#tax_id GeneID Symbol LocusTag Synonyms dbXrefs chromosome map_location description type_of_gene Symbol_from_nomenclature_authority Full_name_from_nomenclature_authority Nomenclature_status Other_designations Modification_date Feature_type 9606 1 A1BG - A1B|ABG|GAB|HYST2477 MIM:138670|HGNC:HGNC:5|Ensembl:ENSG00000121410 19 19q13.43 alpha-1-B glycoprotein protein-coding A1BG alpha-1-B glycoprotein O alpha-1B-glycoprotein|HEL-S-163pA|epididymis secretory sperm binding protein Li 163pA 20210708 - 9606 2 A2M - A2MD|CPAMD5|FWP007|S863-7 MIM:103950|HGNC:HGNC:7|Ensembl:ENSG00000175899 12 12p13.31 alpha-2-macroglobulin protein-coding A2M alpha-2-macroglobulin O alpha-2-macroglobulin|C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5|alpha-2-M 20211009 - 9606 3 A2MP1 - A2MP HGNC:HGNC:8|Ensembl:ENSG00000256069 12 12p13.31 alpha-2-macroglobulin pseudogene 1 pseudo A2MP1 alpha-2-macroglobulin pseudogene 1 O pregnancy-zone protein pseudogene 20210611 - 9606 9 NAT1 - AAC1|MNAT|NAT-1|NATI MIM:108345|HGNC:HGNC:7645|Ensembl:ENSG00000171428 8 8p22 N-acetyltransferase 1 protein-coding NAT1 N-acetyltransferase 1 O arylamine N-acetyltransferase 1|N-acetyltransferase 1 (arylamine N-acetyltransferase)|N-acetyltransferase type 1|arylamide acetylase 1|monomorphic arylamine N-acetyltransferase 20210926 - 9606 10 NAT2 - AAC2|NAT-2|PNAT MIM:612182|HGNC:HGNC:7646|Ensembl:ENSG00000156006 8 8p22 N-acetyltransferase 2 protein-coding NAT2 N-acetyltransferase 2 O arylamine N-acetyltransferase 2|N-acetyltransferase 2 (arylamine N-acetyltransferase)|N-acetyltransferase type 2|arylamide acetylase 2 20210926 - 9606 11 NATP - AACP|NATP1 HGNC:HGNC:15 8 8p22 N-acetyltransferase pseudogene pseudo NATP N-acetyltransferase pseudogene O arylamide acetylase pseudogene 20210611 - 9606 12 SERPINA3 - AACT|ACT|GIG24|GIG25 MIM:107280|HGNC:HGNC:16|Ensembl:ENSG00000196136 14 14q32.13 serpin family A member 3 protein-coding SERPINA3 serpin family A member 3 O alpha-1-antichymotrypsin|cell growth-inhibiting gene 24/25 protein|growth-inhibiting protein 24|growth-inhibiting protein 25|serine (or cysteine) proteinase inhibitor, clade A, member 3|serpin A3|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 20211031 - 9606 13 AADAC - CES5A1|DAC MIM:600338|HGNC:HGNC:17|Ensembl:ENSG00000114771 3 3q25.1 arylacetamide deacetylase protein-coding AADAC arylacetamide deacetylase O arylacetamide deacetylase|arylacetamide deacetylase (esterase) 20211017 - 9606 14 AAMP - - MIM:603488|HGNC:HGNC:18|Ensembl:ENSG00000127837 2 2q35 angio associated migratory cell protein protein-coding AAMP angio associated migratory cell protein O angio-associated migratory cell protein 20210905 - 9606 15 AANAT - DSPS|SNAT MIM:600950|HGNC:HGNC:19|Ensembl:ENSG00000129673 17 17q25.1 aralkylamine N-acetyltransferase protein-coding AANAT aralkylamine N-acetyltransferase O serotonin N-acetyltransferase|arylalkylamine N-acetyltransferase|serotonin acetylase 20210726 - 9606 16 AARS1 - AARS|CMT2N|DEE29|EIEE29 MIM:601065|HGNC:HGNC:20|Ensembl:ENSG00000090861 16 16q22.1 alanyl-tRNA synthetase 1 protein-coding AARS1 alanyl-tRNA synthetase 1 O alanine--tRNA ligase, cytoplasmic|alaRS|alanine tRNA ligase 1, cytoplasmic|alanyl-tRNA synthetase, cytoplasmic|renal carcinoma antigen NY-REN-42 20211026 - 9606 17 AAVS1 - AAV MIM:102699|HGNC:HGNC:22 19 19q13|19q13-qter adeno-associated virus integration site 1 other AAVS1 adeno-associated virus integration site 1 O - 20190324 - 9606 18 ABAT - GABA-AT|GABAT|NPD009 MIM:137150|HGNC:HGNC:23|Ensembl:ENSG00000183044 16 16p13.2 4-aminobutyrate aminotransferase protein-coding ABAT 4-aminobutyrate aminotransferase O 4-aminobutyrate aminotransferase, mitochondrial|(S)-3-amino-2-methylpropionate transaminase|4-aminobutyrate transaminase|GABA aminotransferase|GABA transaminase|GABA transferase|gamma-amino-N-butyrate transaminase|gamma-aminobutyrate aminotransferase 20210822 - 9606 19 ABCA1 - ABC-1|ABC1|CERP|HDLCQTL13|HDLDT1|HPALP1|TGD MIM:600046|HGNC:HGNC:29|Ensembl:ENSG00000165029 9 9q31.1 ATP binding cassette subfamily A member 1 protein-coding ABCA1 ATP binding cassette subfamily A member 1 O phospholipid-transporting ATPase ABCA1|ATP-binding cassette sub-family A member 1|ATP-binding cassette transporter A1|ATP-binding cassette, sub-family A (ABC1), member 1|cholesterol efflux regulatory protein|membrane-bound 20211030 - 9606 20 ABCA2 - ABC2|IDPOGSA MIM:600047|HGNC:HGNC:32|Ensembl:ENSG00000107331 9 9q34.3 ATP binding cassette subfamily A member 2 protein-coding ABCA2 ATP binding cassette subfamily A member 2 O ATP-binding cassette sub-family A member 2|ATP-binding cassette 2|ATP-binding cassette transporter 2|ATP-binding cassette, sub-family A (ABC1), member 2|ATP-binding cassette, sub-family A, member 2 20210822 - 9606 21 ABCA3 - ABC-C|ABC3|EST111653|LBM180|SMDP3 MIM:601615|HGNC:HGNC:33|Ensembl:ENSG00000167972 16 16p13.3 ATP binding cassette subfamily A member 3 protein-coding ABCA3 ATP binding cassette subfamily A member 3 O phospholipid-transporting ATPase ABCA3|ABC transporter 3|ABC-C transporter|ATP-binding cassette sub-family A member 3|ATP-binding cassette transporter 3|ATP-binding cassette, sub-family A (ABC1), member 3|xenobiotic-transporting ATPase ABCA3 20211031 - 9606 22 ABCB7 - ABC7|ASAT|Atm1p|EST140535 MIM:300135|HGNC:HGNC:48|Ensembl:ENSG00000131269 X Xq13.3 ATP binding cassette subfamily B member 7 protein-coding ABCB7 ATP binding cassette subfamily B member 7 O iron-sulfur clusters transporter ABCB7, mitochondrial|ABC transporter 7 protein|ATP-binding cassette sub-family B member 7, mitochondrial|ATP-binding cassette transporter 7|ATP-binding cassette, sub-family B (MDR/TAP), member 7 20210708 - 9606 23 ABCF1 - ABC27|ABC50 MIM:603429|HGNC:HGNC:70|Ensembl:ENSG00000204574 6 6p21.33 ATP binding cassette subfamily F member 1 protein-coding ABCF1 ATP binding cassette subfamily F member 1 O ATP-binding cassette sub-family F member 1|ATP-binding cassette 50 (TNF-alpha stimulated)|ATP-binding cassette, sub-family F (GCN20), member 1|TNF-alpha-stimulated ABC protein|TNFalpha-inducible ATP-binding protein 20210905 - 9606 24 ABCA4 - ABC10|ABCR|ARMD2|CORD3|FFM|RMP|RP19|STGD|STGD1 MIM:601691|HGNC:HGNC:34|Ensembl:ENSG00000198691 1 1p22.1 ATP binding cassette subfamily A member 4 protein-coding ABCA4 ATP binding cassette subfamily A member 4 O retinal-specific phospholipid-transporting ATPase ABCA4|ATP binding cassette transporter|ATP-binding cassette sub-family A member 4|ATP-binding cassette transporter, retinal-specific|ATP-binding cassette, sub-family A (ABC1), member 4|ATP-binding transporter, retina-specific|RIM ABC transporter|RIM protein|photoreceptor rim protein|retina-specific ABC transporter|retinal-specific ATP-binding cassette transporter|stargardt disease protein 20211017 - 9606 25 ABL1 - ABL|BCR-ABL|CHDSKM|JTK7|bcr/abl|c-ABL|c-ABL1|p150|v-abl MIM:189980|HGNC:HGNC:76|Ensembl:ENSG00000097007 9 9q34.12 ABL proto-oncogene 1, non-receptor tyrosine kinase protein-coding ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase O tyrosine-protein kinase ABL1|ABL protooncogene 1 nonreceptor tyrosine kinase|Abelson tyrosine-protein kinase 1|bcr/c-abl oncogene protein|c-abl oncogene 1, receptor tyrosine kinase|proto-oncogene c-Abl|proto-oncogene tyrosine-protein kinase ABL1|truncated ABL protooncogene 1 nonreceptor tyrosine kinase|v-abl Abelson murine leukemia viral oncogene homolog 1 20211017 - 9606 26 AOC1 - ABP|ABP1|DAO|DAO1|KAO MIM:104610|HGNC:HGNC:80|Ensembl:ENSG00000002726 7 7q36.1 amine oxidase copper containing 1 protein-coding AOC1 amine oxidase copper containing 1 O amiloride-sensitive amine oxidase [copper-containing]|amiloride binding protein 1 (amine oxidase (copper-containing))|amiloride-binding protein 1|amiloride-sensitive amine oxidase|amine oxidase copper domain-containing protein 1|diamine oxidase|histaminase|kidney amine oxidase 20210708 - 9606 27 ABL2 - ABLL|ARG MIM:164690|HGNC:HGNC:77|Ensembl:ENSG00000143322 1 1q25.2 ABL proto-oncogene 2, non-receptor tyrosine kinase protein-coding ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase O tyrosine-protein kinase ABL2|Abelson tyrosine-protein kinase 2|abelson-related gene protein|c-abl oncogene 2, non-receptor tyrosine kinase|tyrosine-protein kinase ARG|v-abl Abelson murine leukemia viral oncogene homolog 2 20211017 - 9606 28 ABO - A3GALNT|A3GALT1|GTB|NAGAT MIM:110300|HGNC:HGNC:79|Ensembl:ENSG00000175164 9 9q34.2 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase protein-coding ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase O histo-blood group ABO system transferase|ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)|B(A) alpha-1,3-galactosyltransferase|histo-blood group A2 transferase 20211030 - 9606 29 ABR - MDB MIM:600365|HGNC:HGNC:81|Ensembl:ENSG00000159842 17 17p13.3 ABR activator of RhoGEF and GTPase protein-coding ABR ABR activator of RhoGEF and GTPase O active breakpoint cluster region-related protein|ABR, RhoGEF and GTPase activating protein|active BCR-related 20211016 - 9606 30 ACAA1 - ACAA|PTHIO|THIO MIM:604054|HGNC:HGNC:82|Ensembl:ENSG00000060971 3 3p22.2 acetyl-CoA acyltransferase 1 protein-coding ACAA1 acetyl-CoA acyltransferase 1 O 3-ketoacyl-CoA thiolase, peroxisomal|acetyl-CoA C-myristoyltransferase|acetyl-Coenzyme A acyltransferase 1|beta-ketothiolase|epididymis secretory sperm binding protein|peroxisomal 3-oxoacyl-CoA thiolase|peroxisomal 3-oxoacyl-Coenzyme A thiolase|testicular tissue protein Li 197 20210708 - 9606 31 ACACA - ACAC|ACACAD|ACACalpha|ACC|ACC1|ACCA|ACCalpha|Acac1|hACC1 MIM:200350|HGNC:HGNC:84|Ensembl:ENSG00000278540 17 17q12 acetyl-CoA carboxylase alpha protein-coding ACACA acetyl-CoA carboxylase alpha O acetyl-CoA carboxylase 1|ACC-alpha|acetyl-Coenzyme A carboxylase alpha 20211028 - 9606 32 ACACB - ACACbeta|ACC-beta|ACC2|ACCB|ACCbeta|HACC275 MIM:601557|HGNC:HGNC:85|Ensembl:ENSG00000076555 12 12q24.11 acetyl-CoA carboxylase beta protein-coding ACACB acetyl-CoA carboxylase beta O acetyl-CoA carboxylase 2|acetyl-Coenzyme A carboxylase beta 20211028 - 9606 33 ACADL - ACAD4|LCAD MIM:609576|HGNC:HGNC:88|Ensembl:ENSG00000115361 2 2q34 acyl-CoA dehydrogenase long chain protein-coding ACADL acyl-CoA dehydrogenase long chain O long-chain specific acyl-CoA dehydrogenase, mitochondrial|acyl-Coenzyme A dehydrogenase, long chain|long-chain acyl-CoA dehydrogenase 20211026 - 9606 34 ACADM - ACAD1|MCAD|MCADH MIM:607008|HGNC:HGNC:89|Ensembl:ENSG00000117054 1 1p31.1 acyl-CoA dehydrogenase medium chain protein-coding ACADM acyl-CoA dehydrogenase medium chain O medium-chain specific acyl-CoA dehydrogenase, mitochondrial|acyl-CoA dehydrogenase, C-4 to C-12 straight chain|acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain|medium-chain acyl-CoA dehydrogenase|testicular tissue protein Li 7 20210708 - 9606 35 ACADS - ACAD3|SCAD MIM:606885|HGNC:HGNC:90|Ensembl:ENSG00000122971 12 12q24.31 acyl-CoA dehydrogenase short chain protein-coding ACADS acyl-CoA dehydrogenase short chain O short-chain specific acyl-CoA dehydrogenase, mitochondrial|acyl-CoA dehydrogenase, C-2 to C-3 short chain|acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain|butyryl-CoA dehydrogenase|epididymis secretory sperm binding protein|mitochondrial short-chain specific acyl-CoA dehydrogenase|unsaturated acyl-CoA reductase 20210822 - 9606 36 ACADSB - 2-MEBCAD|ACAD7|SBCAD MIM:600301|HGNC:HGNC:91|Ensembl:ENSG00000196177 10 10q26.13 acyl-CoA dehydrogenase short/branched chain protein-coding ACADSB acyl-CoA dehydrogenase short/branched chain O short/branched chain specific acyl-CoA dehydrogenase, mitochondrial|2-methyl branched chain acyl-CoA dehydrogenase|2-methylbutyryl-coenzyme A dehydrogenase|acyl-Coenzyme A dehydrogenase, short/branched chain 20210905 - 9606 37 ACADVL - ACAD6|LCACD|VLCAD MIM:609575|HGNC:HGNC:92|Ensembl:ENSG00000072778 17 17p13.1 acyl-CoA dehydrogenase very long chain protein-coding ACADVL acyl-CoA dehydrogenase very long chain O very long-chain specific acyl-CoA dehydrogenase, mitochondrial|acyl-Coenzyme A dehydrogenase, very long chain 20210906 - 9606 38 ACAT1 - ACAT|MAT|T2|THIL MIM:607809|HGNC:HGNC:93|Ensembl:ENSG00000075239 11 11q22.3 acetyl-CoA acetyltransferase 1 protein-coding ACAT1 acetyl-CoA acetyltransferase 1 O acetyl-CoA acetyltransferase, mitochondrial|acetoacetyl Coenzyme A thiolase|acetoacetyl-CoA thiolase|acetyl-Coenzyme A acetyltransferase 1|mitochondrial acetoacetyl-CoA thiolase|testicular tissue protein Li 198 20211017 - 9606 39 ACAT2 - - MIM:100678|HGNC:HGNC:94|Ensembl:ENSG00000120437 6 6q25.3 acetyl-CoA acetyltransferase 2 protein-coding ACAT2 acetyl-CoA acetyltransferase 2 O acetyl-CoA acetyltransferase, cytosolic|acetoacetyl Coenzyme A thiolase|acetyl-CoA transferase-like protein|cytosolic acetoacetyl-CoA thiolase 20210708 - 9606 40 ASIC2 - ACCN|ACCN1|ASIC2a|BNC1|BNaC1|MDEG|hBNaC1 MIM:601784|HGNC:HGNC:99|Ensembl:ENSG00000108684 17 17q11.2-q12 acid sensing ion channel subunit 2 protein-coding ASIC2 acid sensing ion channel subunit 2 O acid-sensing ion channel 2|acid sensing (proton gated) ion channel 2|amiloride-sensitive cation channel 1, neuronal|brain sodium channel 1|mammalian degenerin homolog|neuronal amiloride-sensitive cation channel 1 20211017 - 9606 41 ASIC1 - ACCN2|ASIC|BNaC2 MIM:602866|HGNC:HGNC:100|Ensembl:ENSG00000110881 12 12q13.12 acid sensing ion channel subunit 1 protein-coding ASIC1 acid sensing ion channel subunit 1 O acid-sensing ion channel 1|Cation channel, amiloride-sensitive, neuronal, 2|acid sensing (proton gated) ion channel 1|acid-sensing ion channel 1a protein|amiloride-sensitive cation channel 2, neuronal|brain sodium channel 2 20211026 - 9606 43 ACHE - ACEE|ARACHE|N-ACHE|YT MIM:100740|HGNC:HGNC:108|Ensembl:ENSG00000087085 7 7q22.1 acetylcholinesterase (Cartwright blood group) protein-coding ACHE acetylcholinesterase (Cartwright blood group) O acetylcholinesterase|Yt blood group|acetylcholinesterase (Yt blood group)|apoptosis-related acetylcholinesterase 20211026 - 9606 46 ACLS - - MIM:200990 12 12p13.3-p11.2 acrocallosal syndrome unknown - - - - 20191002 - 9606 47 ACLY - ACL|ATPCL|CLATP MIM:108728|HGNC:HGNC:115|Ensembl:ENSG00000131473 17 17q21.2 ATP citrate lyase protein-coding ACLY ATP citrate lyase O ATP-citrate synthase|ATP-citrate (pro-S-)-lyase|citrate cleavage enzyme 20211026 - 9606 48 ACO1 - ACONS|HEL60|IREB1|IREBP|IREBP1|IRP1 MIM:100880|HGNC:HGNC:117|Ensembl:ENSG00000122729 9 9p21.1 aconitase 1 protein-coding ACO1 aconitase 1 O cytoplasmic aconitate hydratase|aconitase 1, soluble|aconitate hydratase, cytoplasmic|citrate hydro-lyase|cytoplasmic aconitase|cytosplasmic aconitase|epididymis luminal protein 60|epididymis secretory sperm binding protein|ferritin repressor protein|iron regulatory protein 1|iron-responsive element-binding protein 1|soluble aconitase 20210708 - 9606 49 ACR - - MIM:102480|HGNC:HGNC:126|Ensembl:ENSG00000100312 22 22q13.33 acrosin protein-coding ACR acrosin O acrosin|acrosin light and heavy chain prepropeptide|preproacrosin|proacrosin 20210708 - 9606 50 ACO2 - ACONM|HEL-S-284|ICRD|OCA8|OPA9 MIM:100850|HGNC:HGNC:118|Ensembl:ENSG00000100412 22 22q13.2 aconitase 2 protein-coding ACO2 aconitase 2 O aconitate hydratase, mitochondrial|aconitase 2, mitochondrial|citrate hydro-lyase|epididymis secretory sperm binding protein Li 284|mitochondrial aconitase 20210905 - 9606 51 ACOX1 - ACOX|MITCH|PALMCOX|SCOX MIM:609751|HGNC:HGNC:119|Ensembl:ENSG00000161533 17 17q25.1 acyl-CoA oxidase 1 protein-coding ACOX1 acyl-CoA oxidase 1 O peroxisomal acyl-coenzyme A oxidase 1|AOX|acyl-CoA oxidase 1, palmitoyl|acyl-CoA oxidase, straight-chain|acyl-Coenzyme A oxidase 1, palmitoyl|palmitoyl-CoA oxidase|peroxisomal fatty acyl-CoA oxidase|straight-chain acyl-CoA oxidase 20211017 - 9606 52 ACP1 - HAAP|LMW-PTP|LMWPTP MIM:171500|HGNC:HGNC:122|Ensembl:ENSG00000143727 2 2p25.3 acid phosphatase 1 protein-coding ACP1 acid phosphatase 1 O low molecular weight phosphotyrosine protein phosphatase|LMW-PTPase|acid phosphatase 1, soluble|acid phosphatase of erythrocyte|adipocyte acid phosphatase|cytoplasmic phosphotyrosyl protein phosphatase|low molecular weight cytosolic acid phosphatase|protein tyrosine phosphatase|red cell acid phosphatase 1|testicular secretory protein Li 37 20210808 - 9606 53 ACP2 - LAP MIM:171650|HGNC:HGNC:123|Ensembl:ENSG00000134575 11 11p11.2|11p12-p11 acid phosphatase 2, lysosomal protein-coding ACP2 acid phosphatase 2, lysosomal O lysosomal acid phosphatase 20210809 - 9606 54 ACP5 - HPAP|TRACP5a|TRACP5b|TRAP|TrATPase MIM:171640|HGNC:HGNC:124|Ensembl:ENSG00000102575 19 19p13.2 acid phosphatase 5, tartrate resistant protein-coding ACP5 acid phosphatase 5, tartrate resistant O tartrate-resistant acid phosphatase type 5|human purple acid phosphatase|tartrate-resistant acid ATPase|tartrate-resistant acid phosphatase 5a|tartrate-resistant acid phosphatase 5b 20210822 - 9606 55 ACP3 - 5'-NT|ACP-3|ACPP|TM-PAP MIM:171790|HGNC:HGNC:125|Ensembl:ENSG00000014257 3 3q22.1 acid phosphatase 3 protein-coding ACP3 acid phosphatase 3 O prostatic acid phosphatase|TMPase|acid phosphatase, prostate|ecto-5'-nucleotidase|prostatic acid phosphotase|protein tyrosine phosphatase ACP3|thiamine monophosphatase 20210708 - 9606 56 ACRV1 - D11S4365|SP-10|SPACA2 MIM:102525|HGNC:HGNC:127|Ensembl:ENSG00000134940 11 11q24.2 acrosomal vesicle protein 1 protein-coding ACRV1 acrosomal vesicle protein 1 O acrosomal protein SP-10|sperm protein 10 20210905 - 9606 58 ACTA1 - ACTA|ASMA|CFTD|CFTD1|CFTDM|MPFD|NEM1|NEM2|NEM3|SHPM MIM:102610|HGNC:HGNC:129|Ensembl:ENSG00000143632 1 1q42.13 actin alpha 1, skeletal muscle protein-coding ACTA1 actin alpha 1, skeletal muscle O actin, alpha skeletal muscle|nemaline myopathy type 3 20210808 - 9606 59 ACTA2 - ACTSA MIM:102620|HGNC:HGNC:130|Ensembl:ENSG00000107796 10 10q23.31 actin alpha 2, smooth muscle protein-coding ACTA2 actin alpha 2, smooth muscle O actin, aortic smooth muscle|actin, alpha 2, smooth muscle, aorta|alpha-cardiac actin|cell growth-inhibiting gene 46 protein 20211031 - 9606 60 ACTB - BRWS1|PS1TP5BP1 MIM:102630|HGNC:HGNC:132|Ensembl:ENSG00000075624 7 7p22.1 actin beta protein-coding ACTB actin beta O actin, cytoplasmic 1|I(2)-actin|PS1TP5-binding protein 1|beta cytoskeletal actin 20210905 - 9606 62 ACTBP2 - - HGNC:HGNC:135 5 5q14.1 ACTB pseudogene 2 pseudo ACTBP2 ACTB pseudogene 2 O actin, beta pseudogene 2 20210611 - 9606 63 ACTBP3 - - HGNC:HGNC:136 18 18q21.32 ACTB pseudogene 3 pseudo ACTBP3 ACTB pseudogene 3 O actin, beta pseudogene 3 20210611 - 9606 64 ACTBP4 - - HGNC:HGNC:137 5 5q31.1 ACTB pseudogene 4 pseudo ACTBP4 ACTB pseudogene 4 O actin, beta pseudogene 4 20210611 - 9606 66 ACTBP6 - H8-PSI-BETA-AC3 HGNC:HGNC:139 8 8q21.2 ACTB pseudogene 6 pseudo ACTBP6 ACTB pseudogene 6 O actin, beta pseudogene 6|actin, gamma 1 pseudogene 20210611 - 9606 67 ACTBP7 - - HGNC:HGNC:140 15 15q15.3 ACTB pseudogene 7 pseudo ACTBP7 ACTB pseudogene 7 O actin, beta pseudogene 7 20210611 - 9606 68 ACTBP8 - ACTBP2 HGNC:HGNC:141 6 6q15 ACTB pseudogene 8 pseudo ACTBP8 ACTB pseudogene 8 O actin, beta pseudogene 8 20210611 - 9606 69 ACTBP9 - - HGNC:HGNC:142 18 18q21.33 ACTB pseudogene 9 pseudo ACTBP9 ACTB pseudogene 9 O actin, beta pseudogene 9 20210611 - 9606 70 ACTC1 - ACTC|ASD5|CMD1R|CMH11|LVNC4 MIM:102540|HGNC:HGNC:143|Ensembl:ENSG00000159251 15 15q14 actin alpha cardiac muscle 1 protein-coding ACTC1 actin alpha cardiac muscle 1 O actin, alpha cardiac muscle 1 20210905 - 9606 71 ACTG1 - ACT|ACTG|DFNA20|DFNA26|HEL-176 MIM:102560|HGNC:HGNC:144|Ensembl:ENSG00000184009 17 17q25.3 actin gamma 1 protein-coding ACTG1 actin gamma 1 O actin, cytoplasmic 2|cytoskeletal gamma-actin|epididymis luminal protein 176 20210905 - 9606 72 ACTG2 - ACT|ACTA3|ACTE|ACTL3|ACTSG|MMIHS5|VSCM|VSCM1 MIM:102545|HGNC:HGNC:145|Ensembl:ENSG00000163017 2 2p13.1 actin gamma 2, smooth muscle protein-coding ACTG2 actin gamma 2, smooth muscle O actin, gamma-enteric smooth muscle|actin, gamma 2, smooth muscle, enteric|actin-like protein|alpha-actin-3 20211106 - 9606 73 ACTG1P1 - ACT1GP1|ACTGP1|HY-psi-gamma-AC6 HGNC:HGNC:146 3 3q23 actin gamma 1 pseudogene 1 pseudo ACTG1P1 actin gamma 1 pseudogene 1 O actin, gamma pseudogene 1 20210611 - 9606 74 ACTG1P2 - ACTGP2|ACTL2 HGNC:HGNC:147 Y Yq11.222 actin gamma 1 pseudogene 2 pseudo ACTG1P2 actin gamma 1 pseudogene 2 O - 20210611 - 9606 75 ACTG1P3 - ACTGP3|dJ545L17.4 HGNC:HGNC:148 20 20p13 actin gamma 1 pseudogene 3 pseudo ACTG1P3 actin gamma 1 pseudogene 3 O actin, gamma pseudogene 3 20210611 - 9606 78 ACTG1P6 - ACTGP6 HGNC:HGNC:151 1 1p21 actin gamma 1 pseudogene 6 pseudo ACTG1P6 actin gamma 1 pseudogene 6 O actin, gamma pseudogene 6 20190324 - 9606 79 ACTG1P7 - ACTGP7 HGNC:HGNC:152 1 1p21 actin gamma 1 pseudogene 7 pseudo ACTG1P7 actin gamma 1 pseudogene 7 O actin, gamma pseudogene 7 20190324 - 9606 80 ACTG1P8 - ACTGP8 HGNC:HGNC:153 1 1p21 actin gamma 1 pseudogene 8 pseudo ACTG1P8 actin gamma 1 pseudogene 8 O actin, gamma pseudogene 8 20190324 - 9606 81 ACTN4 - ACTININ-4|FSGS|FSGS1 MIM:604638|HGNC:HGNC:166|Ensembl:ENSG00000130402 19 19q13.2 actinin alpha 4 protein-coding ACTN4 actinin alpha 4 O alpha-actinin-4|focal segmental glomerulosclerosis 1|non-muscle alpha-actinin 4 20210906 - 9606 82 ACTG1P9 - ACTGP9 HGNC:HGNC:154 6 6p12.3 actin gamma 1 pseudogene 9 pseudo ACTG1P9 actin gamma 1 pseudogene 9 O actin, gamma pseudogene 9 20210611 - 9606 83 ACTG1P10 - ACTGP10|ACTL1|ACTP1 HGNC:HGNC:155 X Xp11.22 actin gamma 1 pseudogene 10 pseudo ACTG1P10 actin gamma 1 pseudogene 10 O actin, gamma pseudogene 10|actin-like 1|actin-like sequence-1 20210611 - 9606 86 ACTL6A - ACTL6|ARPN-BETA|Arp4|BAF53A|INO80K|SMARCN1 MIM:604958|HGNC:HGNC:24124|Ensembl:ENSG00000136518 3 3q26.33 actin like 6A protein-coding ACTL6A actin like 6A O actin-like protein 6A|53 kDa BRG1-associated factor A|BAF complex 53 kDa subunit|BAF53|BRG1-associated factor 53A|INO80 complex subunit K|actin-related protein 4|actin-related protein Baf53a|arpNbeta|hArpN beta 20211028 - 9606 87 ACTN1 - BDPLT15 MIM:102575|HGNC:HGNC:163|Ensembl:ENSG00000072110 14 14q24.1|14q22-q24 actinin alpha 1 protein-coding ACTN1 actinin alpha 1 O alpha-actinin-1|F-actin cross-linking protein|actinin 1 smooth muscle|epididymis secretory sperm binding protein|non-muscle alpha-actinin-1 20210906 - 9606 88 ACTN2 - CMD1AA|CMH23|MPD6|MYOCOZ MIM:102573|HGNC:HGNC:164|Ensembl:ENSG00000077522 1 1q43 actinin alpha 2 protein-coding ACTN2 actinin alpha 2 O alpha-actinin-2|F-actin cross-linking protein|alpha-actinin skeletal muscle|truncated actinin alpha 2 20210905 - 9606 89 ACTN3 - ACTN3D MIM:102574|HGNC:HGNC:165|Ensembl:ENSG00000248746 11 11q13.2 actinin alpha 3 protein-coding ACTN3 actinin alpha 3 O alpha-actinin-3|F-actin cross-linking protein|alpha-actinin skeletal muscle 20211031 - 9606 90 ACVR1 - ACTRI|ACVR1A|ACVRLK2|ALK2|FOP|SKR1|TSRI MIM:102576|HGNC:HGNC:171|Ensembl:ENSG00000115170 2 2q24.1 activin A receptor type 1 protein-coding ACVR1 activin A receptor type 1 O activin receptor type-1|TGF-B superfamily receptor type I|activin A receptor, type I|activin A receptor, type II-like kinase 2|activin receptor type I|activin receptor-like kinase 2|hydroxyalkyl-protein kinase|serine/threonine-protein kinase receptor R1 20211031 - 9606 91 ACVR1B - ACTRIB|ACVRLK4|ALK4|SKR2 MIM:601300|HGNC:HGNC:172|Ensembl:ENSG00000135503 12 12q13.13 activin A receptor type 1B protein-coding ACVR1B activin A receptor type 1B O activin receptor type-1B|activin A receptor, type IB|activin A receptor, type II-like kinase 4|activin receptor-like kinase 4|serine/threonine-protein kinase receptor R2 20210708 - 9606 92 ACVR2A - ACTRII|ACVR2 MIM:102581|HGNC:HGNC:173|Ensembl:ENSG00000121989 2 2q22.3-q23.1 activin A receptor type 2A protein-coding ACVR2A activin A receptor type 2A O activin receptor type-2A|activin A receptor, type IIA 20211026 - 9606 93 ACVR2B - ACTRIIB|ActR-IIB|HTX4 MIM:602730|HGNC:HGNC:174|Ensembl:ENSG00000114739 3 3p22.2 activin A receptor type 2B protein-coding ACVR2B activin A receptor type 2B O activin receptor type-2B|activin A receptor, type IIB 20211031 - 9606 94 ACVRL1 - ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I MIM:601284|HGNC:HGNC:175|Ensembl:ENSG00000139567 12 12q13.13 activin A receptor like type 1 protein-coding ACVRL1 activin A receptor like type 1 O serine/threonine-protein kinase receptor R3|TGF-B superfamily receptor type I|activin A receptor type II-like 1|activin A receptor type IL|activin A receptor, type II-like kinase 1 20210919 - 9606 95 ACY1 - ACY-1|ACY1D|HEL-S-5 MIM:104620|HGNC:HGNC:177|Ensembl:ENSG00000243989 3 3p21.2 aminoacylase 1 protein-coding ACY1 aminoacylase 1 O aminoacylase-1|N-acyl-L-amino-acid amidohydrolase|acylase|epididymis secretory protein Li 5 20210708 - 9606 97 ACYP1 - ACYPE MIM:600875|HGNC:HGNC:179|Ensembl:ENSG00000119640 14 14q24.3 acylphosphatase 1 protein-coding ACYP1 acylphosphatase 1 O acylphosphatase-1|acylphosphatase 1, erythrocyte (common) type|acylphosphatase, erythrocyte isozyme|acylphosphatase, organ-common type isozyme|acylphosphate phosphohydrolase 1 20210611 - 9606 98 ACYP2 - ACYM|ACYP MIM:102595|HGNC:HGNC:180|Ensembl:ENSG00000170634 2 2p16.2 acylphosphatase 2 protein-coding ACYP2 acylphosphatase 2 O acylphosphatase-2|acylphosphatase 2, muscle type|acylphosphatase, muscle type isozyme|acylphosphate phosphohydrolase 2|testicular tissue protein Li 11 20211016 - 9606 100 ADA - ADA1 MIM:608958|HGNC:HGNC:186|Ensembl:ENSG00000196839 20 20q13.12 adenosine deaminase protein-coding ADA adenosine deaminase O adenosine deaminase|adenosine aminohydrolase 20210822 - 9606 101 ADAM8 - CD156|CD156a|MS2 MIM:602267|HGNC:HGNC:215|Ensembl:ENSG00000151651 10 10q26.3 ADAM metallopeptidase domain 8 protein-coding ADAM8 ADAM metallopeptidase domain 8 O disintegrin and metalloproteinase domain-containing protein 8|a disintegrin and metalloproteinase domain 8|cell surface antigen MS2|human leukocyte differentiation antigen 20211026 - 9606 102 ADAM10 - AD10|AD18|CD156c|CDw156|HsT18717|MADM|RAK|kuz MIM:602192|HGNC:HGNC:188|Ensembl:ENSG00000137845 15 15q21.3 ADAM metallopeptidase domain 10 protein-coding ADAM10 ADAM metallopeptidase domain 10 O disintegrin and metalloproteinase domain-containing protein 10|a disintegrin and metalloprotease domain 10|kuzbanian protein homolog|mammalian disintegrin-metalloprotease 20211017 - 9606 103 ADAR - ADAR1|AGS6|DRADA|DSH|DSRAD|G1P1|IFI-4|IFI4|K88DSRBP|P136 MIM:146920|HGNC:HGNC:225|Ensembl:ENSG00000160710 1 1q21.3 adenosine deaminase RNA specific protein-coding ADAR adenosine deaminase RNA specific O double-stranded RNA-specific adenosine deaminase|136 kDa double-stranded RNA-binding protein|adenosine deaminase acting on RNA 1-A|dsRNA adenosine deaminase|dsRNA adeonosine deaminase|interferon-induced protein 4|interferon-inducible protein 4 20211026 - 9606 104 ADARB1 - ADAR2|DRABA2|DRADA2|NEDHYMS|RED1 MIM:601218|HGNC:HGNC:226|Ensembl:ENSG00000197381 21 21q22.3 adenosine deaminase RNA specific B1 protein-coding ADARB1 adenosine deaminase RNA specific B1 O double-stranded RNA-specific editase 1|RNA editing deaminase 1|RNA-editing enzyme 1|adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)|dsRNA adenosine deaminase DRADA2 20211026 - 9606 105 ADARB2 - ADAR3|RED2 MIM:602065|HGNC:HGNC:227|Ensembl:ENSG00000185736 10 10p15.3 adenosine deaminase RNA specific B2 (inactive) protein-coding ADARB2 adenosine deaminase RNA specific B2 (inactive) O double-stranded RNA-specific editase B2|RED2 homolog|RNA-dependent adenosine deaminase 3|RNA-editing deaminase 2|RNA-editing enzyme 2|adenosine deaminase, RNA-specific, B2 (RED1 homolog rat)|adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)|adenosine deaminase, RNA-specific, B2 (non-functional)|dsRNA adenosine deaminase B2|homolog of rat BLUE 20210704 - 9606 106 ADCP1 - - HGNC:HGNC:229 6 - adenosine deaminase complexing protein 1 unknown ADCP1 adenosine deaminase complexing protein 1 O - 20190324 - 9606 107 ADCY1 - AC1|DFNB44 MIM:103072|HGNC:HGNC:232|Ensembl:ENSG00000164742 7 7p12.3 adenylate cyclase 1 protein-coding ADCY1 adenylate cyclase 1 O adenylate cyclase type 1|3',5'-cyclic AMP synthetase|ATP pyrophosphate-lyase 1|Ca(2+)/calmodulin-activated adenylyl cyclase|adenyl cyclase|adenylate cyclase 1 (brain)|adenylate cyclase type I|adenylyl cyclase 1|adenylyl cyclase subtype 1 20210822 - 9606 108 ADCY2 - AC2|HBAC2 MIM:103071|HGNC:HGNC:233|Ensembl:ENSG00000078295 5 5p15.31 adenylate cyclase 2 protein-coding ADCY2 adenylate cyclase 2 O adenylate cyclase type 2|3',5'-cyclic AMP synthetase|ATP pyrophosphate-lyase 2|adenylate cyclase 2 (brain)|adenylate cyclase II|adenylate cyclase type II|adenylyl cyclase 2|type II adenylate cyclase 20210906 - 9606 109 ADCY3 - AC-III|AC3|BMIQ19 MIM:600291|HGNC:HGNC:234|Ensembl:ENSG00000138031 2 2p23.3 adenylate cyclase 3 protein-coding ADCY3 adenylate cyclase 3 O adenylate cyclase type 3|ATP pyrophosphate-lyase 3|adenylate cyclase type III|adenylate cyclase, olfactive type|adenylyl cyclase 3|adenylyl cyclase, type III 20211026 - 9606 111 ADCY5 - AC5|FDFM MIM:600293|HGNC:HGNC:236|Ensembl:ENSG00000173175 3 3q21.1 adenylate cyclase 5 protein-coding ADCY5 adenylate cyclase 5 O adenylate cyclase type 5|ATP pyrophosphate-lyase 5|adenylate cyclase type V|adenylyl cyclase 5|epididymis secretory sperm binding protein 20211031 - 9606 112 ADCY6 - AC6|LCCS8 MIM:600294|HGNC:HGNC:237|Ensembl:ENSG00000174233 12 12q13.12 adenylate cyclase 6 protein-coding ADCY6 adenylate cyclase 6 O adenylate cyclase type 6|ATP pyrophosphate-lyase 6|adenylate cyclase type VI|ca(2+)-inhibitable adenylyl cyclase 20210809 - 9606 113 ADCY7 - AC7 MIM:600385|HGNC:HGNC:238|Ensembl:ENSG00000121281 16 16q12.1 adenylate cyclase 7 protein-coding ADCY7 adenylate cyclase 7 O adenylate cyclase type 7|ATP pyrophosphate-lyase 7|adenylate cyclase type VII|adenylyl cyclase 7 20210708 - 9606 114 ADCY8 - AC8|ADCY3|HBAC1 MIM:103070|HGNC:HGNC:239|Ensembl:ENSG00000155897 8 8q24.22 adenylate cyclase 8 protein-coding ADCY8 adenylate cyclase 8 O adenylate cyclase type 8|ATP pyrophosphate-lyase 8|HEL-S-172mP|adenylate cyclase 8 (brain)|adenylate cyclase type VIII|adenylyl cyclase 8|adenylyl cyclase-8, brain|ca(2+)/calmodulin-activated adenylyl cyclase|epididymis secretory sperm binding protein Li 172mP 20210708 - 9606 115 ADCY9 - AC9|ACIX MIM:603302|HGNC:HGNC:240|Ensembl:ENSG00000162104 16 16p13.3 adenylate cyclase 9 protein-coding ADCY9 adenylate cyclase 9 O adenylate cyclase type 9|ATP pyrophosphate-lyase 9|adenylate cyclase type IX|adenylyl cyclase 9|type IX ATP pyrophosphate-lyase 20210719 - 9606 116 ADCYAP1 - PACAP MIM:102980|HGNC:HGNC:241|Ensembl:ENSG00000141433 18 18p11.32 adenylate cyclase activating polypeptide 1 protein-coding ADCYAP1 adenylate cyclase activating polypeptide 1 O pituitary adenylate cyclase-activating polypeptide|adenylate cyclase activating polypeptide 1 (pituitary)|prepro-PACAP 20210708 - 9606 117 ADCYAP1R1 - PAC1|PAC1R|PACAPR|PACAPRI MIM:102981|HGNC:HGNC:242|Ensembl:ENSG00000078549 7 7p14.3 ADCYAP receptor type I protein-coding ADCYAP1R1 ADCYAP receptor type I O pituitary adenylate cyclase-activating polypeptide type I receptor|PACAP receptor 1|PACAP type I receptor|PACAP-R1|adenylate cyclase activating polypeptide 1 (pituitary) receptor type I|pituitary adenylate cyclase activating polypeptide 1 receptor type I Hiphop|pituitary adenylate cyclase-activating polypeptide type 1 receptor 20210906 - 9606 118 ADD1 - ADDA MIM:102680|HGNC:HGNC:243|Ensembl:ENSG00000087274 4 4p16.3 adducin 1 protein-coding ADD1 adducin 1 O alpha-adducin|adducin 1 (alpha)|erythrocyte adducin alpha subunit 20211031 - 9606 119 ADD2 - ADDB MIM:102681|HGNC:HGNC:244|Ensembl:ENSG00000075340 2 2p13.3 adducin 2 protein-coding ADD2 adducin 2 O beta-adducin|adducin 2 (beta)|erythrocyte adducin subunit beta 20210708 - 9606 120 ADD3 - ADDL|CPSQ3 MIM:601568|HGNC:HGNC:245|Ensembl:ENSG00000148700 10 10q25.1-q25.2 adducin 3 protein-coding ADD3 adducin 3 O gamma-adducin|adducin 3 (gamma)|adducin-like protein 70 20210708 - 9606 122 ADFN - ALDS MIM:300700 X Xq25-q26|Xq26.3-q27.1 albinism-deafness syndrome unknown - - - - 20191002 - 9606 123 PLIN2 - ADFP|ADRP MIM:103195|HGNC:HGNC:248|Ensembl:ENSG00000147872 9 9p22.1 perilipin 2 protein-coding PLIN2 perilipin 2 O perilipin-2|adipophilin|adipose differentiation-related protein 20211031 - 9606 124 ADH1A - ADH1 MIM:103700|HGNC:HGNC:249|Ensembl:ENSG00000187758 4 4q23 alcohol dehydrogenase 1A (class I), alpha polypeptide protein-coding ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide O alcohol dehydrogenase 1A|ADH, alpha subunit|alcohol dehydrogenase 1 (class I), alpha polypeptide|alcohol dehydrogenase subunit alpha|aldehyde reductase 20210708 - 9606 125 ADH1B - ADH2|HEL-S-117 MIM:103720|HGNC:HGNC:250|Ensembl:ENSG00000196616 4 4q23 alcohol dehydrogenase 1B (class I), beta polypeptide protein-coding ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide O all-trans-retinol dehydrogenase [NAD(+)] ADH1B|ADH, beta subunit|alcohol dehydrogenase 2 (class I), beta polypeptide|alcohol dehydrogenase subunit beta|aldehyde reductase|epididymis secretory protein Li 117 20210926 - 9606 126 ADH1C - ADH3 MIM:103730|HGNC:HGNC:251|Ensembl:ENSG00000248144 4 4q23 alcohol dehydrogenase 1C (class I), gamma polypeptide protein-coding ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide O alcohol dehydrogenase 1C|ADH, gamma subunit|alcohol dehydrogenase 3 (class I), gamma polypeptide|aldehyde reductase 20210708 - 9606 127 ADH4 - ADH-2|HEL-S-4 MIM:103740|HGNC:HGNC:252|Ensembl:ENSG00000198099 4 4q23 alcohol dehydrogenase 4 (class II), pi polypeptide protein-coding ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide O all-trans-retinol dehydrogenase [NAD(+)] ADH4|alcohol dehydrogenase class II pi chain|aldehyde reductase|epididymis secretory protein Li 4 20210919 - 9606 128 ADH5 - ADH-3|ADHX|AMEDS|BMFS7|FALDH|FDH|GSH-FDH|GSNOR|HEL-S-60p MIM:103710|HGNC:HGNC:253|Ensembl:ENSG00000197894 4 4q23 alcohol dehydrogenase 5 (class III), chi polypeptide protein-coding ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide O alcohol dehydrogenase class-3|S-(hydroxymethyl)glutathione dehydrogenase|S-nitrosoglutathione reductase|alcohol dehydrogenase (class III), chi polypeptide|alcohol dehydrogenase class chi chain|alcohol dehydrogenase class-III|epididymis secretory sperm binding protein Li 60p|formaldehyde dehydrogenase|glutathione-dependent formaldehyde dehydrogenase 20210719 - 9606 130 ADH6 - ADH-5 MIM:103735|HGNC:HGNC:255|Ensembl:ENSG00000172955 4 4q23 alcohol dehydrogenase 6 (class V) protein-coding ADH6 alcohol dehydrogenase 6 (class V) O alcohol dehydrogenase 6|aldehyde reductase 20210708 - 9606 131 ADH7 - ADH4 MIM:600086|HGNC:HGNC:256|Ensembl:ENSG00000196344 4 4q23 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide protein-coding ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide O all-trans-retinol dehydrogenase [NAD(+)] ADH7|alcohol dehydrogenase VII|alcohol dehydrogenase class 4 mu/sigma chain|alcohol dehydrogenase class IV mu/sigma chain|alcohol dehydrogenase-7|class IV sigma-1 alcohol dehydrogenase|class IV sigmasigma alcohol dehydrogenase|gastric alcohol dehydrogenase|omega-hydroxydecanoate dehydrogenase ADH7|retinol dehydrogenase 20210802 - 9606 132 ADK - AK MIM:102750|HGNC:HGNC:257|Ensembl:ENSG00000156110 10 10q22.2|10q11-q24 adenosine kinase protein-coding ADK adenosine kinase O adenosine kinase|adenosine 5'-phosphotransferase|testicular tissue protein Li 14 20210809 - 9606 133 ADM - AM|PAMP MIM:103275|HGNC:HGNC:259|Ensembl:ENSG00000148926 11 11p15.4 adrenomedullin protein-coding ADM adrenomedullin O pro-adrenomedullin|preproadrenomedullin|proadrenomedullin N-20 terminal peptide 20210926 - 9606 134 ADORA1 - RDC7 MIM:102775|HGNC:HGNC:262|Ensembl:ENSG00000163485 1 1q32.1 adenosine A1 receptor protein-coding ADORA1 adenosine A1 receptor O adenosine receptor A1|adenosine A1 receptor variant 1|adenosine A1 receptor variant 2 20210719 - 9606 135 ADORA2A - A2aR|ADORA2|RDC8 MIM:102776|HGNC:HGNC:263|Ensembl:ENSG00000128271 22 22q11.23 adenosine A2a receptor protein-coding ADORA2A adenosine A2a receptor O adenosine receptor A2a|adenosine receptor subtype A2a 20211031 - 9606 136 ADORA2B - ADORA2 MIM:600446|HGNC:HGNC:264|Ensembl:ENSG00000170425 17 17p12 adenosine A2b receptor protein-coding ADORA2B adenosine A2b receptor O adenosine receptor A2b 20211016 - 9606 137 ADORA2BP1 - ADORA2BP HGNC:HGNC:265 1 1q32.2 adenosine A2b receptor pseudogene 1 pseudo ADORA2BP1 adenosine A2b receptor pseudogene 1 O - 20210611 - 9606 140 ADORA3 - A3AR MIM:600445|HGNC:HGNC:268|Ensembl:ENSG00000282608 1 1p13.2 adenosine A3 receptor protein-coding ADORA3 adenosine A3 receptor O adenosine receptor A3 20210912 - 9606 141 ADPRH - ARH1|hARH1 MIM:603081|HGNC:HGNC:269|Ensembl:ENSG00000144843 3 3q13.33 ADP-ribosylarginine hydrolase protein-coding ADPRH ADP-ribosylarginine hydrolase O ADP-ribosylarginine hydrolase|ADP-ribose-L-arginine cleaving enzyme|[Protein ADP-ribosylarginine] hydrolase 20210611 - 9606 142 PARP1 - ADPRT|ADPRT 1|ADPRT1|ARTD1|PARP|PARP-1|PPOL|pADPRT-1 MIM:173870|HGNC:HGNC:270|Ensembl:ENSG00000143799 1 1q42.12 poly(ADP-ribose) polymerase 1 protein-coding PARP1 poly(ADP-ribose) polymerase 1 O poly [ADP-ribose] polymerase 1|ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)|ADP-ribosyltransferase NAD(+)|ADP-ribosyltransferase diphtheria toxin-like 1|DNA ADP-ribosyltransferase PARP1|NAD(+) ADP-ribosyltransferase 1|poly (ADP-ribose) polymerase family, member 1|poly(ADP-ribose) synthetase|poly(ADP-ribosyl)transferase|poly[ADP-ribose] synthase 1|protein poly-ADP-ribosyltransferase PARP1 20211031 - 9606 143 PARP4 - ADPRTL1|ARTD4|PARP-4|PARPL|PH5P|VAULT3|VPARP|VWA5C|p193 MIM:607519|HGNC:HGNC:271|Ensembl:ENSG00000102699 13 13q12.12 poly(ADP-ribose) polymerase family member 4 protein-coding PARP4 poly(ADP-ribose) polymerase family member 4 O protein mono-ADP-ribosyltransferase PARP4|193 kDa vault protein|ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1|ADP-ribosyltransferase diphtheria toxin-like 4|H5 proline-rich|I-alpha-I-related|PARP-related|PARP-related/IalphaI-related H5/proline-rich|poly [ADP-ribose] polymerase 4|poly(ADP-ribose) synthetase|poly(ADP-ribosyl)transferase-like 1|vault poly(ADP-ribose) polymerase|vault protein, 193-kDa|von Willebrand factor A domain containing 5C 20210905 - 9606 144 PARP1P1 - ADPRTP1|PPOLP1 HGNC:HGNC:275|Ensembl:ENSG00000227105 13 13q34 poly(ADP-ribose) polymerase 1 pseudogene 1 pseudo PARP1P1 poly(ADP-ribose) polymerase 1 pseudogene 1 O ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 1|poly (ADP-ribose) polymerase 1 pseudogene|poly(ADP-ribose) polymerase family member 1 pseudogene 1 20210611 - 9606 145 PARP1P2 - ADPRTP2|PPOLP2 HGNC:HGNC:276 14 14q23.2 poly(ADP-ribose) polymerase 1 pseudogene 2 pseudo PARP1P2 poly(ADP-ribose) polymerase 1 pseudogene 2 O ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 2|poly (ADP-ribose) polymerase family, member 1 pseudogene 2 20210611 - 9606 146 ADRA1D - ADRA1|ADRA1A|ADRA1R|ALPHA1|DAR|dJ779E11.2 MIM:104219|HGNC:HGNC:280|Ensembl:ENSG00000171873 20 20p13 adrenoceptor alpha 1D protein-coding ADRA1D adrenoceptor alpha 1D O alpha-1D adrenergic receptor|adrenergic, alpha -1D-, receptor|adrenergic, alpha-1A-, receptor|alpha-1A adrenergic receptor|alpha-1D adrenoceptor|alpha-1D adrenoreceptor|alpha-adrenergic receptor 1a 20210708 - 9606 147 ADRA1B - ADRA1|ALPHA1BAR MIM:104220|HGNC:HGNC:278|Ensembl:ENSG00000170214 5 5q33.3 adrenoceptor alpha 1B protein-coding ADRA1B adrenoceptor alpha 1B O alpha-1B adrenergic receptor|adrenergic, alpha-1B-, receptor|alpha-1B adrenoceptor|alpha-1B adrenoreceptor 20210708 - 9606 148 ADRA1A - ADRA1C|ADRA1L1|ALPHA1AAR MIM:104221|HGNC:HGNC:277|Ensembl:ENSG00000120907 8 8p21.2 adrenoceptor alpha 1A protein-coding ADRA1A adrenoceptor alpha 1A O alpha-1A adrenergic receptor|G protein coupled receptor|alpha-1A adrenoceptor|alpha-1A adrenoreceptor|alpha-1C adrenergic receptor 20210822 - 9606 150 ADRA2A - ADRA2|ADRA2R|ADRAR|ALPHA2AAR|ZNF32 MIM:104210|HGNC:HGNC:281|Ensembl:ENSG00000150594 10 10q25.2 adrenoceptor alpha 2A protein-coding ADRA2A adrenoceptor alpha 2A O alpha-2A adrenergic receptor|adrenergic, alpha-2A-, receptor|alpha-2 adrenergic receptor subtype C10|alpha-2-adrenergic receptor, platelet type|alpha-2A adrenoceptor|alpha-2A adrenoreceptor|alpha-2AAR subtype C10 20210708 - 9606 151 ADRA2B - ADRA2L1|ADRA2RL1|ADRARL1|ALPHA2BAR|FAME2|alpha-2BAR MIM:104260|HGNC:HGNC:282|Ensembl:ENSG00000274286 2 2q11.2 adrenoceptor alpha 2B protein-coding ADRA2B adrenoceptor alpha 2B O alpha-2B adrenergic receptor|ADRA2B adrenergic, alpha-2B-, receptor|G-protein coupled receptor|alpha-2 adrenergic receptor subtype C2|alpha-2-adrenergic receptor-like 1|alpha-2B adrenoreceptor 20210708 - 9606 152 ADRA2C - ADRA2L2|ADRA2RL2|ADRARL2|ALPHA2CAR MIM:104250|HGNC:HGNC:283|Ensembl:ENSG00000184160 4 4p16.3 adrenoceptor alpha 2C protein-coding ADRA2C adrenoceptor alpha 2C O alpha-2C adrenergic receptor|adrenergic, alpha-2C-, receptor|alpha-2 adrenergic receptor subtype C4|alpha-2C adrenoceptor|alpha-2C adrenoreceptor|alpha-2CAR|alpha2-AR-C4 20210708 - 9606 153 ADRB1 - ADRB1R|B1AR|BETA1AR|FNSS2|RHR MIM:109630|HGNC:HGNC:285|Ensembl:ENSG00000043591 10 10q25.3 adrenoceptor beta 1 protein-coding ADRB1 adrenoceptor beta 1 O beta-1 adrenergic receptor|adrenergic, beta-1-, receptor|beta-1 adrenoceptor|beta-1 adrenoreceptor 20211031 - 9606 154 ADRB2 - ADRB2R|ADRBR|B2AR|BAR|BETA2AR MIM:109690|HGNC:HGNC:286|Ensembl:ENSG00000169252 5 5q32 adrenoceptor beta 2 protein-coding ADRB2 adrenoceptor beta 2 O beta-2 adrenergic receptor|adrenergic, beta-2-, receptor, surface|adrenoceptor beta 2 surface|beta-2 adrenoceptor|beta-2 adrenoreceptor|catecholamine receptor 20211031 - 9606 155 ADRB3 - BETA3AR MIM:109691|HGNC:HGNC:288|Ensembl:ENSG00000188778 8 8p11.23 adrenoceptor beta 3 protein-coding ADRB3 adrenoceptor beta 3 O beta-3 adrenergic receptor|adrenergic, beta-3-, receptor|beta-3 adrenoceptor|beta-3 adrenoreceptor 20210708 - 9606 156 GRK2 - ADRBK1|BARK1|BETA-ARK1 MIM:109635|HGNC:HGNC:289|Ensembl:ENSG00000173020 11 11q13.2 G protein-coupled receptor kinase 2 protein-coding GRK2 G protein-coupled receptor kinase 2 O beta-adrenergic receptor kinase 1|adrenergic beta receptor kinase 1|beta-ARK-1 20211026 - 9606 157 GRK3 - ADRBK2|BARK2 MIM:109636|HGNC:HGNC:290|Ensembl:ENSG00000100077 22 22q12.1 G protein-coupled receptor kinase 3 protein-coding GRK3 G protein-coupled receptor kinase 3 O beta-adrenergic receptor kinase 2|adrenergic, beta, receptor kinase 2|beta-ARK-2 20211002 - 9606 158 ADSL - AMPS|ASASE|ASL MIM:608222|HGNC:HGNC:291|Ensembl:ENSG00000239900 22 22q13.1 adenylosuccinate lyase protein-coding ADSL adenylosuccinate lyase O adenylosuccinate lyase|adenylosuccinase 20211028 - 9606 159 ADSS2 - ADEH|ADSS|ADSS 2 MIM:103060|HGNC:HGNC:292|Ensembl:ENSG00000035687 1 1q44 adenylosuccinate synthase 2 protein-coding ADSS2 adenylosuccinate synthase 2 O adenylosuccinate synthetase isozyme 2|AMPSase 2|IMP--aspartate ligase 2|L-type adenylosuccinate synthetase|adenylosuccinate synthetase (Ade(-)H-complementing)|adenylosuccinate synthetase, acidic isozyme|adenylosuccinate synthetase, liver isozyme|epididymis secretory sperm binding protein 20210708 - 9606 160 AP2A1 - ADTAA|AP2-ALPHA|CLAPA1 MIM:601026|HGNC:HGNC:561|Ensembl:ENSG00000196961 19 19q13.33 adaptor related protein complex 2 subunit alpha 1 protein-coding AP2A1 adaptor related protein complex 2 subunit alpha 1 O AP-2 complex subunit alpha-1|100 kDa coated vesicle protein A|adapter-related protein complex 2 alpha-1 subunit|adapter-related protein complex 2 subunit alpha-1|adaptin, alpha A|adaptor protein complex AP-2 subunit alpha-1|adaptor related protein complex 2 alpha 1 subunit|alpha-adaptin A|alpha1-adaptin|clathrin assembly protein complex 2 alpha-A large chain|clathrin-associated/assembly/adaptor protein, large, alpha 1|plasma membrane adaptor HA2/AP2 adaptin alpha A subunit 20210808 - 9606 161 AP2A2 - ADTAB|CLAPA2|HIP-9|HIP9|HYPJ MIM:607242|HGNC:HGNC:562|Ensembl:ENSG00000183020 11 11p15.5 adaptor related protein complex 2 subunit alpha 2 protein-coding AP2A2 adaptor related protein complex 2 subunit alpha 2 O AP-2 complex subunit alpha-2|100 kDa coated vesicle protein C|adapter-related protein complex 2 subunit alpha-2|adaptin, alpha B|adaptor related protein complex 2 alpha 2 subunit|alpha-adaptin C; Huntingtin interacting protein J|alpha2-adaptin|clathrin assembly protein complex 2 alpha-C large chain|clathrin-associated/assembly/adaptor protein, large, alpha 2|huntingtin yeast partner J|huntingtin-interacting protein 9|plasma membrane adaptor HA2/AP2 adaptin alpha C subunit 20211016 - 9606 162 AP1B1 - ADTB1|AP105A|BAM22|CLAPB2|KIDAR MIM:600157|HGNC:HGNC:554|Ensembl:ENSG00000100280 22 22q12.2 adaptor related protein complex 1 subunit beta 1 protein-coding AP1B1 adaptor related protein complex 1 subunit beta 1 O AP-1 complex subunit beta-1|ADTB1, CLAPB2|Golgi adaptor HA1/AP1 adaptin beta subunit|adapter-related protein complex 1 subunit beta-1|adaptor protein complex AP-1 subunit beta-1|adaptor related protein complex 1 beta 1 subunit|beta-1-adaptin|beta-adaptin 1|beta-prime-adaptin|beta1-adaptin|clathrin assembly protein complex 1 beta large chain|plasma membrane adaptor HA2/AP2 adaptor beta subunit 20210708 - 9606 163 AP2B1 - ADTB2|AP105B|AP2-BETA|CLAPB1 MIM:601025|HGNC:HGNC:563|Ensembl:ENSG00000006125 17 17q12 adaptor related protein complex 2 subunit beta 1 protein-coding AP2B1 adaptor related protein complex 2 subunit beta 1 O AP-2 complex subunit beta|adapter-related protein complex 2 beta subunit|adapter-related protein complex 2 subunit beta|adaptin, beta 2 (beta)|adaptor protein complex AP-2 subunit beta|adaptor related protein complex 2 beta 1 subunit|adaptor-related protein complex 2 subunit beta|beta-2-adaptin|beta-adaptin|beta2-adaptin|clathrin assembly protein complex 2 beta large chain|clathrin-associated/assembly/adaptor protein, large, beta 1|plasma membrane adaptor HA2/AP2 adaptin beta subunit|testicular tissue protein Li 22 20210708 - 9606 164 AP1G1 - ADTG|CLAPG1|USRISD MIM:603533|HGNC:HGNC:555|Ensembl:ENSG00000166747 16 16q22.2 adaptor related protein complex 1 subunit gamma 1 protein-coding AP1G1 adaptor related protein complex 1 subunit gamma 1 O AP-1 complex subunit gamma-1|adapter-related protein complex 1 subunit gamma-1|adaptor protein complex AP-1 subunit gamma-1|adaptor related protein complex 1 gamma 1 subunit|clathrin assembly protein complex 1 gamma large chain|clathrin assembly protein complex 1 gamma-1 large chain|clathrin-associated/assembly/adaptor protein, large, gamma 1|gamma adaptin|gamma1-adaptin|golgi adaptor HA1/AP1 adaptin gamma subunit|golgi adaptor HA1/AP1 adaptin subunit gamma-1|testicular tissue protein Li 21 20211030 - 9606 165 AEBP1 - ACLP MIM:602981|HGNC:HGNC:303|Ensembl:ENSG00000106624 7 7p13 AE binding protein 1 protein-coding AEBP1 AE binding protein 1 O adipocyte enhancer-binding protein 1|aortic carboxypeptidase-like protein 20211003 - 9606 166 TLE5 - AES|AES-1|AES-2|ESP1|GRG|GRG5|Grg-5 MIM:600188|HGNC:HGNC:307|Ensembl:ENSG00000104964 19 19p13.3 TLE family member 5, transcriptional modulator protein-coding TLE5 TLE family member 5, transcriptional modulator O TLE family member 5|amino-terminal enhancer of split|gp130-associated protein GAM|groucho-related protein 5 20210905 - 9606 167 CRISP1 - AEGL1|ARP|CRISP-1|HEL-S-57|HSCRISP1D|HSCRISP1G|HUMARP MIM:601193|HGNC:HGNC:304|Ensembl:ENSG00000124812 6 6p12.3 cysteine rich secretory protein 1 protein-coding CRISP1 cysteine rich secretory protein 1 O cysteine-rich secretory protein 1|AEG-like protein|AEG-related protein|acidic epididymal glycoprotein homolog|acidic epididymal glycoprotein-like 1|cysteine-rich secretory protein-1 delta|epididymis secretory protein Li 57 20210611 - 9606 169 AF8T - - MIM:116950 3 - AF8 temperature sensitivity complementing unknown - - - cell cycle controller G1|tsAF8 complementing 20200625 - 9606 170 AFA - - MIM:106250 - - ankyloblepharon filiforme adnatum unknown - - - - 20191002 - 9606 171 AFD1 - AFDN MIM:154400 9 9q32 acrofacial dysostosis 1, Nager type unknown - - - - 20191208 - 9606 172 AFG3L1P - AFG3|AFG3L1 MIM:603020|HGNC:HGNC:314|Ensembl:ENSG00000223959 16 16q24.3 AFG3 like matrix AAA peptidase subunit 1, pseudogene pseudo AFG3L1P AFG3 like matrix AAA peptidase subunit 1, pseudogene O AFG3 (ATPase family gene 3, yeast)-like 1|AFG3 ATPase family gene 3-like 1, pseudogene|AFG3 ATPase family member 3-like 1, pseudogene|AFG3 like AAA ATPase 1, pseudogene 20210704 - 9606 173 AFM - ALB2|ALBA|ALF MIM:104145|HGNC:HGNC:316|Ensembl:ENSG00000079557 4 4q13.3 afamin protein-coding AFM afamin O afamin|alpha-Alb|alpha-albumin 20210611 - 9606 174 AFP - AFPD|FETA|HPAFP MIM:104150|HGNC:HGNC:317|Ensembl:ENSG00000081051 4 4q13.3 alpha fetoprotein protein-coding AFP alpha fetoprotein O alpha-fetoprotein|alpha-1-fetoprotein|alpha-fetoglobulin 20211031 - 9606 175 AGA - AGU|ASRG|GA MIM:613228|HGNC:HGNC:318|Ensembl:ENSG00000038002 4 4q34.3 aspartylglucosaminidase protein-coding AGA aspartylglucosaminidase O N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase|N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase|aspartylglucosylamine deaspartylase|glycosylasparaginase 20210708 - 9606 176 ACAN - AGC1|AGCAN|CSPG1|CSPGCP|MSK16|SEDK|SSOAOD MIM:155760|HGNC:HGNC:319|Ensembl:ENSG00000157766 15 15q26.1 aggrecan protein-coding ACAN aggrecan O aggrecan core protein|cartilage-specific proteoglycan core protein|chondroitin sulfate proteoglycan core protein 1|large aggregating proteoglycan 20211031 - 9606 177 AGER - RAGE|SCARJ1|sRAGE MIM:600214|HGNC:HGNC:320|Ensembl:ENSG00000204305 6 6p21.32 advanced glycosylation end-product specific receptor protein-coding AGER advanced glycosylation end-product specific receptor O advanced glycosylation end product-specific receptor|receptor for advanced glycation end-products variant 20 20211031 - 9606 178 AGL - GDE MIM:610860|HGNC:HGNC:321|Ensembl:ENSG00000162688 1 1p21.2 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase protein-coding AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase O glycogen debranching enzyme|amylo-1, 6-glucosidase, 4-alpha-glucanotransferase|amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided|glycogen debrancher|glycogen debranching protein 20210708 - 9606 179 AGMX2 - IMD6|XLA2 MIM:300310 X Xp22 agammaglobulinemia, X-linked 2 (with growth hormone deficiency) unknown - - - - 20191002 - 9606 181 AGRP - AGRT|ART|ASIP2 MIM:602311|HGNC:HGNC:330|Ensembl:ENSG00000159723 16 16q22.1 agouti related neuropeptide protein-coding AGRP agouti related neuropeptide O agouti-related protein|agouti related protein homolog 20210705 - 9606 182 JAG1 - AGS|AGS1|AHD|AWS|CD339|CMT2HH|DCHE|HJ1|JAGL1 MIM:601920|HGNC:HGNC:6188|Ensembl:ENSG00000101384 20 20p12.2 jagged canonical Notch ligand 1 protein-coding JAG1 jagged canonical Notch ligand 1 O protein jagged-1 20211031 - 9606 183 AGT - ANHU|SERPINA8|hFLT1 MIM:106150|HGNC:HGNC:333|Ensembl:ENSG00000135744 1 1q42.2 angiotensinogen protein-coding AGT angiotensinogen O angiotensinogen|alpha-1 antiproteinase, antitrypsin|angiotensin I|angiotensin II|fetal-liver predominant transporter 1|pre-angiotensinogen|serine (or cysteine) proteinase inhibitor|serpin A8|serpin peptidase inhibitor, clade A, member 8 20211026 - 9606 185 AGTR1 - AG2S|AGTR1B|AT1|AT1AR|AT1B|AT1BR|AT1R|AT2R1|HAT1R MIM:106165|HGNC:HGNC:336|Ensembl:ENSG00000144891 3 3q24 angiotensin II receptor type 1 protein-coding AGTR1 angiotensin II receptor type 1 O type-1 angiotensin II receptor|type-1B angiotensin II receptor 20211026 - 9606 186 AGTR2 - AT2|ATGR2|MRX88 MIM:300034|HGNC:HGNC:338|Ensembl:ENSG00000180772 X Xq23 angiotensin II receptor type 2 protein-coding AGTR2 angiotensin II receptor type 2 O type-2 angiotensin II receptor|angiotensin II type-2 receptor 20211017 - 9606 187 APLNR - AGTRL1|APJ|APJR|HG11 MIM:600052|HGNC:HGNC:339|Ensembl:ENSG00000134817 11 11q12.1 apelin receptor protein-coding APLNR apelin receptor O apelin receptor|APJ (apelin) receptor|APJ receptor|G protein-coupled receptor APJ|G-protein coupled receptor HG11|HG11 orphan receptor|angiotensin II receptor-like 1|angiotensin receptor-like 1 20210906 - 9606 189 AGXT - AGT|AGT1|AGXT1|PH1|SPAT|SPT|TLH6 MIM:604285|HGNC:HGNC:341|Ensembl:ENSG00000172482 2 2q37.3 alanine--glyoxylate and serine--pyruvate aminotransferase protein-coding AGXT alanine--glyoxylate and serine--pyruvate aminotransferase O serine--pyruvate aminotransferase|L-alanine: glyoxylate aminotransferase 1|alanine-glyoxylate aminotransferase|hepatic peroxisomal alanine:glyoxylate aminotransferase 20210926 - 9606 190 NR0B1 - AHC|AHCH|AHX|DAX-1|DAX1|DSS|GTD|HHG|NROB1|SRXY2 MIM:300473|HGNC:HGNC:7960|Ensembl:ENSG00000169297 X Xp21.2 nuclear receptor subfamily 0 group B member 1 protein-coding NR0B1 nuclear receptor subfamily 0 group B member 1 O nuclear receptor subfamily 0 group B member 1|DSS-AHC critical region on the X chromosome protein 1|nuclear hormone receptor|nuclear receptor DAX-1|truncated nuclear receptor subfamily 0 group B member 1 20210708 - 9606 191 AHCY - SAHH|adoHcyase MIM:180960|HGNC:HGNC:343|Ensembl:ENSG00000101444 20 20q11.22 adenosylhomocysteinase protein-coding AHCY adenosylhomocysteinase O adenosylhomocysteinase|S-adenosyl-L-homocysteine hydrolase|S-adenosylhomocysteine hydrolase|epididymis secretory sperm binding protein 20211017 - 9606 192 AIC - - MIM:304050 X Xp22 Aicardi syndrome unknown - - - - 20191002 - 9606 196 AHR - RP85|bHLHe76 MIM:600253|HGNC:HGNC:348|Ensembl:ENSG00000106546 7 7p21.1 aryl hydrocarbon receptor protein-coding AHR aryl hydrocarbon receptor O aryl hydrocarbon receptor|AH-receptor|ah receptor|aromatic hydrocarbon receptor|class E basic helix-loop-helix protein 76 20211031 - 9606 197 AHSG - A2HS|AHS|APMR1|FETUA|HSGA MIM:138680|HGNC:HGNC:349|Ensembl:ENSG00000145192 3 3q27.3 alpha 2-HS glycoprotein protein-coding AHSG alpha 2-HS glycoprotein O alpha-2-HS-glycoprotein|alpha-2-Z-globulin|ba-alpha-2-glycoprotein|fetuin-A 20211031 - 9606 199 AIF1 - AIF-1|IBA1|IRT-1|IRT1 MIM:601833|HGNC:HGNC:352|Ensembl:ENSG00000204472 6 6p21.33 allograft inflammatory factor 1 protein-coding AIF1 allograft inflammatory factor 1 O allograft inflammatory factor 1|interferon gamma responsive transcript|ionized calcium-binding adapter molecule 1|protein G1 20211026 - 9606 201 AIH3 - - MIM:301201 X Xq22-q28 amelogenesis imperfecta 3, hypomaturation or hypoplastic type unknown - - - - 20191002 - 9606 202 CRYBG1 - AIM1|ST4 MIM:601797|HGNC:HGNC:356|Ensembl:ENSG00000112297 6 6q21 crystallin beta-gamma domain containing 1 protein-coding CRYBG1 crystallin beta-gamma domain containing 1 O beta/gamma crystallin domain-containing protein 1|absent in melanoma 1 protein|beta-gamma crystallin domain containing 1|suppression of tumorigenicity 4 (malignant melanoma) 20211009 - 9606 203 AK1 - HTL-S-58j MIM:103000|HGNC:HGNC:361|Ensembl:ENSG00000106992 9 9q34.11 adenylate kinase 1 protein-coding AK1 adenylate kinase 1 O adenylate kinase isoenzyme 1|ATP-AMP transphosphorylase 1|ATP:AMP phosphotransferase|adenylate monophosphate kinase|epididymis secretory sperm binding protein|myokinase|testis secretory sperm binding protein Li 58j 20210808 - 9606 204 AK2 - ADK2 MIM:103020|HGNC:HGNC:362|Ensembl:ENSG00000004455 1 1p35.1 adenylate kinase 2 protein-coding AK2 adenylate kinase 2 O adenylate kinase 2, mitochondrial|ATP-AMP transphosphorylase 2|ATP:AMP phosphotransferase|adenylate kinase isoenzyme 2, mitochondrial|adenylate monophosphate kinase|testis secretory sperm-binding protein Li 220n 20211016 - 9606 205 AK4 - AK 4|AK3|AK3L1|AK3L2 MIM:103030|HGNC:HGNC:363|Ensembl:ENSG00000162433 1 1p31.3 adenylate kinase 4 protein-coding AK4 adenylate kinase 4 O adenylate kinase 4, mitochondrial|ATP-AMP transphosphorylase|GTP:AMP phosphotransferase AK4, mitochondrial|adenylate kinase 3-like 1|adenylate kinase isoenzyme 4, mitochondrial|epididymis secretory sperm binding protein|mitochondrial adenylate kinase-3|nucleoside-triphosphate-adenylate kinase 20211031 - 9606 206 AK4P1 - AK3P1 HGNC:HGNC:364 17 17q11.2 adenylate kinase 4 pseudogene 1 pseudo AK4P1 adenylate kinase 4 pseudogene 1 O adenylate kinase 3 pseudogene 1 20211028 - 9606 207 AKT1 - AKT|PKB|PKB-ALPHA|PRKBA|RAC|RAC-ALPHA MIM:164730|HGNC:HGNC:391|Ensembl:ENSG00000142208 14 14q32.33 AKT serine/threonine kinase 1 protein-coding AKT1 AKT serine/threonine kinase 1 O RAC-alpha serine/threonine-protein kinase|AKT1m|PKB alpha|RAC-PK-alpha|protein kinase B alpha|proto-oncogene c-Akt|rac protein kinase alpha|serine-threonine protein kinase|v-akt murine thymoma viral oncogene homolog 1|v-akt murine thymoma viral oncogene-like protein 1 20211031 - 9606 208 AKT2 - HIHGHH|PKBB|PKBBETA|PRKBB|RAC-BETA MIM:164731|HGNC:HGNC:392|Ensembl:ENSG00000105221 19 19q13.2 AKT serine/threonine kinase 2 protein-coding AKT2 AKT serine/threonine kinase 2 O RAC-beta serine/threonine-protein kinase|PKB beta|RAC-PK-beta|murine thymoma viral (v-akt) homolog-2|protein kinase Akt-2|protein kinase B beta|putative v-akt murine thymoma viral oncoprotein 2|rac protein kinase beta|v-akt murine thymoma viral oncogene homolog 2 20211028 - 9606 210 ALAD - ALADH|PBGS MIM:125270|HGNC:HGNC:395|Ensembl:ENSG00000148218 9 9q32 aminolevulinate dehydratase protein-coding ALAD aminolevulinate dehydratase O delta-aminolevulinic acid dehydratase|aminolevulinate, delta-, dehydratase|porphobilinogen synthase|testicular tissue protein Li 95 20211031 - 9606 211 ALAS1 - ALAS|ALAS-H|ALAS3|ALASH|MIG4 MIM:125290|HGNC:HGNC:396|Ensembl:ENSG00000023330 3 3p21.2 5'-aminolevulinate synthase 1 protein-coding ALAS1 5'-aminolevulinate synthase 1 O 5-aminolevulinate synthase, nonspecific, mitochondrial|5-aminolevulinic acid synthase 1|aminolevulinate, delta-, synthase 1|delta-ALA synthase 1|delta-aminolevulinate synthase 1|migration-inducing protein 4 20210905 - 9606 212 ALAS2 - ALAS-E|ALASE|ANH1|ASB|SIDBA1|XLDPP|XLEPP|XLSA MIM:301300|HGNC:HGNC:397|Ensembl:ENSG00000158578 X Xp11.21 5'-aminolevulinate synthase 2 protein-coding ALAS2 5'-aminolevulinate synthase 2 O 5-aminolevulinate synthase, erythroid-specific, mitochondrial|5-aminolevulinic acid synthase 2|aminolevulinate, delta-, synthase 2|delta-ALA synthase 2|delta-ALA synthetase|delta-aminolevulinate synthase 2 20210809 - 9606 213 ALB - FDAHT|HSA|PRO0883|PRO0903|PRO1341 MIM:103600|HGNC:HGNC:399|Ensembl:ENSG00000163631 4 4q13.3 albumin protein-coding ALB albumin O albumin|serum albumin 20211106 - 9606 214 ALCAM - CD166|MEMD MIM:601662|HGNC:HGNC:400|Ensembl:ENSG00000170017 3 3q13.11 activated leukocyte cell adhesion molecule protein-coding ALCAM activated leukocyte cell adhesion molecule O CD166 antigen 20211029 - 9606 215 ABCD1 - ABC42|ALD|ALDP|AMN MIM:300371|HGNC:HGNC:61|Ensembl:ENSG00000101986 X Xq28 ATP binding cassette subfamily D member 1 protein-coding ABCD1 ATP binding cassette subfamily D member 1 O ATP-binding cassette sub-family D member 1|ATP-binding cassette, sub-family D (ALD), member 1|adrenoleukodystrophy protein 20210918 - 9606 216 ALDH1A1 - ALDC|ALDH-E1|ALDH1|ALDH11|HEL-9|HEL-S-53e|HEL12|PUMB1|RALDH1 MIM:100640|HGNC:HGNC:402|Ensembl:ENSG00000165092 9 9q21.13 aldehyde dehydrogenase 1 family member A1 protein-coding ALDH1A1 aldehyde dehydrogenase 1 family member A1 O retinal dehydrogenase 1|ALDH class 1|ALHDII|RALDH 1|acetaldehyde dehydrogenase 1|aldehyde dehydrogenase 1, soluble|aldehyde dehydrogenase, liver cytosolic|epididymis luminal protein 12|epididymis luminal protein 9|epididymis secretory sperm binding protein Li 53e|retinaldehyde dehydrogenase 1 20211031 - 9606 217 ALDH2 - ALDH-E2|ALDHI|ALDM MIM:100650|HGNC:HGNC:404|Ensembl:ENSG00000111275 12 12q24.12 aldehyde dehydrogenase 2 family member protein-coding ALDH2 aldehyde dehydrogenase 2 family member O aldehyde dehydrogenase, mitochondrial|ALDH class 2|acetaldehyde dehydrogenase 2|aldehyde dehydrogenase 2 family (mitochondrial)|epididymis secretory sperm binding protein|liver mitochondrial ALDH|nucleus-encoded mitochondrial aldehyde dehydrogenase 2 20211031 - 9606 218 ALDH3A1 - ALDH3|ALDHIII MIM:100660|HGNC:HGNC:405|Ensembl:ENSG00000108602 17 17p11.2 aldehyde dehydrogenase 3 family member A1 protein-coding ALDH3A1 aldehyde dehydrogenase 3 family member A1 O aldehyde dehydrogenase, dimeric NADP-preferring|aldehyde dehydrogenase isozyme 3|aldehyde dehydrogenase type III|stomach aldehyde dehydrogenase 20210822 - 9606 219 ALDH1B1 - ALDH5|ALDHX MIM:100670|HGNC:HGNC:407|Ensembl:ENSG00000137124 9 9p13.1 aldehyde dehydrogenase 1 family member B1 protein-coding ALDH1B1 aldehyde dehydrogenase 1 family member B1 O aldehyde dehydrogenase X, mitochondrial|ALDH class 2|acetaldehyde dehydrogenase 5|aldehyde dehydrogenase 5|epididymis secretory sperm binding protein 20210905 - 9606 220 ALDH1A3 - ALDH1A6|ALDH6|MCOP8|RALDH3 MIM:600463|HGNC:HGNC:409|Ensembl:ENSG00000184254 15 15q26.3 aldehyde dehydrogenase 1 family member A3 protein-coding ALDH1A3 aldehyde dehydrogenase 1 family member A3 O aldehyde dehydrogenase family 1 member A3|acetaldehyde dehydrogenase 6|aldehyde dehydrogenase 6|retinaldehyde dehydrogenase 3 20210809 - 9606 221 ALDH3B1 - ALDH4|ALDH7 MIM:600466|HGNC:HGNC:410|Ensembl:ENSG00000006534 11 11q13.2 aldehyde dehydrogenase 3 family member B1 protein-coding ALDH3B1 aldehyde dehydrogenase 3 family member B1 O aldehyde dehydrogenase family 3 member B1|aldehyde dehydrogenase 3B1|aldehyde dehydrogenase 7 20210822 - 9606 222 ALDH3B2 - ALDH8 MIM:601917|HGNC:HGNC:411|Ensembl:ENSG00000132746 11 11q13.2 aldehyde dehydrogenase 3 family member B2 protein-coding ALDH3B2 aldehyde dehydrogenase 3 family member B2 O aldehyde dehydrogenase family 3 member B2|acetaldehyde dehydrogenase 8|aldehyde dehydrogenase 8 20210822 - 9606 223 ALDH9A1 - ALDH4|ALDH7|ALDH9|E3|TMABA-DH|TMABADH|TMABALDH MIM:602733|HGNC:HGNC:412|Ensembl:ENSG00000143149 1 1q24.1 aldehyde dehydrogenase 9 family member A1 protein-coding ALDH9A1 aldehyde dehydrogenase 9 family member A1 O 4-trimethylaminobutyraldehyde dehydrogenase|R-aminobutyraldehyde dehydrogenase|aldehyde dehydrogenase (NAD+)|aldehyde dehydrogenase E3 isozyme|aldehyde dehydrogenase family 9 member A1|gamma-aminobutyraldehyde dehydrogenase 20210708 - 9606 224 ALDH3A2 - ALDH10|FALDH|SLS MIM:609523|HGNC:HGNC:403|Ensembl:ENSG00000072210 17 17p11.2 aldehyde dehydrogenase 3 family member A2 protein-coding ALDH3A2 aldehyde dehydrogenase 3 family member A2 O aldehyde dehydrogenase family 3 member A2|aldehyde dehydrogenase 10|fatty aldehyde dehydrogenase|microsomal aldehyde dehydrogenase 20210905 - 9606 225 ABCD2 - ABC39|ALDL1|ALDR|ALDRP|hALDR MIM:601081|HGNC:HGNC:66|Ensembl:ENSG00000173208 12 12q12 ATP binding cassette subfamily D member 2 protein-coding ABCD2 ATP binding cassette subfamily D member 2 O ATP-binding cassette sub-family D member 2|ATP-binding cassette, sub-family D (ALD), member 2|adrenoleukodystrophy-like 1|adrenoleukodystrophy-related protein 20210719 - 9606 226 ALDOA - ALDA|GSD12|HEL-S-87p MIM:103850|HGNC:HGNC:414|Ensembl:ENSG00000149925 16 16p11.2 aldolase, fructose-bisphosphate A protein-coding ALDOA aldolase, fructose-bisphosphate A O fructose-bisphosphate aldolase A|aldolase A, fructose-bisphosphate|epididymis secretory sperm binding protein Li 87p|fructose-1,6-bisphosphate triosephosphate-lyase|lung cancer antigen NY-LU-1|muscle-type aldolase 20210905 - 9606 228 ALDOAP2 - - HGNC:HGNC:416 10 10q26.13 ALDOA pseudogene 2 pseudo ALDOAP2 ALDOA pseudogene 2 O aldolase A, fructose-bisphosphate pseudogene 2|aldolase, fructose-bisphosphate A pseudogene 2 20210724 - 9606 229 ALDOB - ALDB|ALDO2 MIM:612724|HGNC:HGNC:417|Ensembl:ENSG00000136872 9 9q31.1 aldolase, fructose-bisphosphate B protein-coding ALDOB aldolase, fructose-bisphosphate B O fructose-bisphosphate aldolase B|aldolase 2|aldolase B, fructose-bisphosphatase|aldolase B, fructose-bisphosphate|liver-type aldolase 20210708 - 9606 230 ALDOC - ALDC MIM:103870|HGNC:HGNC:418|Ensembl:ENSG00000109107 17 17q11.2 aldolase, fructose-bisphosphate C protein-coding ALDOC aldolase, fructose-bisphosphate C O fructose-bisphosphate aldolase C|aldolase 3|aldolase C, fructose-bisphosphate|brain-type aldolase|epididymis secretory sperm binding protein|fructoaldolase C|fructose-1,6-biphosphate triosephosphate lyase 20211026 - 9606 231 AKR1B1 - ADR|ALDR1|ALR2|AR MIM:103880|HGNC:HGNC:381|Ensembl:ENSG00000085662 7 7q33 aldo-keto reductase family 1 member B protein-coding AKR1B1 aldo-keto reductase family 1 member B O aldo-keto reductase family 1 member B1|Lii5-2 CTCL tumor antigen|aldehyde reductase 1|aldose reductase|low Km aldose reductase 20211017 - 9606 236 AKR1B1P2 - ALDRP HGNC:HGNC:425 3 3p12.3 aldo-keto reductase family 1 member B1 pseudogene 2 pseudo AKR1B1P2 aldo-keto reductase family 1 member B1 pseudogene 2 O aldehyde reductase (aldose reductase) pseudogene|aldo-keto reductase family 1, member B1 (aldose reductase) pseudogene 20210611 - 9606 238 ALK - ALK1|CD246|NBLST3 MIM:105590|HGNC:HGNC:427|Ensembl:ENSG00000171094 2 2p23.2-p23.1 ALK receptor tyrosine kinase protein-coding ALK ALK receptor tyrosine kinase O ALK tyrosine kinase receptor|CD246 antigen|anaplastic lymphoma receptor tyrosine kinase|mutant anaplastic lymphoma kinase 20211031 - 9606 239 ALOX12 - 12-LOX|12S-LOX|LOG12 MIM:152391|HGNC:HGNC:429|Ensembl:ENSG00000108839 17 17p13.1 arachidonate 12-lipoxygenase, 12S type protein-coding ALOX12 arachidonate 12-lipoxygenase, 12S type O polyunsaturated fatty acid lipoxygenase ALOX12|12S-lipoxygenase|Arachidonate 12-lipoxygenase, 12S-type|arachidonate (12S)-lipoxygenase|arachidonate (15S)-lipoxygenase|arachidonate 15-lipoxygenase,15S-type|linoleate 13S-lipoxygenase|lipoxin synthase 12-LO|platelet 12-LOX|platelet-type 12-lipoxygenase|platelet-type lipoxygenase 12 20211017 - 9606 240 ALOX5 - 5-LO|5-LOX|5LPG|LOG5 MIM:152390|HGNC:HGNC:435|Ensembl:ENSG00000012779 10 10q11.21 arachidonate 5-lipoxygenase protein-coding ALOX5 arachidonate 5-lipoxygenase O polyunsaturated fatty acid 5-lipoxygenase|LOX-5|arachidonic acid 5-lipoxygenase|leukotriene A4 synthase 20211017 - 9606 241 ALOX5AP - FLAP MIM:603700|HGNC:HGNC:436|Ensembl:ENSG00000132965 13 13q12.3 arachidonate 5-lipoxygenase activating protein protein-coding ALOX5AP arachidonate 5-lipoxygenase activating protein O arachidonate 5-lipoxygenase-activating protein|MK-886-binding protein 20210708 - 9606 242 ALOX12B - 12R-LOX|ARCI2 MIM:603741|HGNC:HGNC:430|Ensembl:ENSG00000179477 17 17p13.1 arachidonate 12-lipoxygenase, 12R type protein-coding ALOX12B arachidonate 12-lipoxygenase, 12R type O arachidonate 12-lipoxygenase, 12R-type|12R-lipoxygenase|epidermis-type lipoxygenase 12 20210726 - 9606 243 ALOX12P1 - ALOX12P HGNC:HGNC:431 17 17q11.2 arachidonate 12-lipoxygenase pseudogene 1 pseudo ALOX12P1 arachidonate 12-lipoxygenase pseudogene 1 O - 20210611 - 9606 245 ALOX12P2 - ALOX12E HGNC:HGNC:432|Ensembl:ENSG00000262943 17 17p13.1 arachidonate 12-lipoxygenase pseudogene 2 pseudo ALOX12P2 arachidonate 12-lipoxygenase pseudogene 2 O 12-lipoxygenase-related protein|hair and skin epidermal-type 12-lipoxygenase-related pseudogene 20210611 - 9606 246 ALOX15 - 12-LOX|15-LOX|15-LOX-1|LOG15 MIM:152392|HGNC:HGNC:433|Ensembl:ENSG00000161905 17 17p13.2 arachidonate 15-lipoxygenase protein-coding ALOX15 arachidonate 15-lipoxygenase O polyunsaturated fatty acid lipoxygenase ALOX15|12/15-lipoxygenase|15-LOX type 1|15-lipooxygenase-1|15-lipoxygenase type 1|arachidonate 12-lipoxygenase, leukocyte-type|arachidonate omega-6 lipoxygenase|hepoxilin A3 synthase Alox15|linoleate 13S-lipoxygenase 20211017 - 9606 247 ALOX15B - 15-LOX-2 MIM:603697|HGNC:HGNC:434|Ensembl:ENSG00000179593 17 17p13.1 arachidonate 15-lipoxygenase type B protein-coding ALOX15B arachidonate 15-lipoxygenase type B O polyunsaturated fatty acid lipoxygenase ALOX15B|15-LOX-B|15S-lipoxygenase|arachidonate 15-lipoxygenase 2|arachidonate 15-lipoxygenase type II|arachidonate 15-lipoxygenase, second type|arachidonate omega(6) lipoxygenase|linoleate 13-lipoxygenase 15-LOb 20210708 - 9606 248 ALPI - IAP MIM:171740|HGNC:HGNC:437|Ensembl:ENSG00000163295 2 2q37.1 alkaline phosphatase, intestinal protein-coding ALPI alkaline phosphatase, intestinal O intestinal-type alkaline phosphatase|Kasahara isozyme|alkaline phosphomonoesterase|glycerophosphatase|intestinal alkaline phosphatase 20211009 - 9606 249 ALPL - AP-TNAP|APTNAP|HOPS|HPPA|HPPC|HPPI|HPPO|TNALP|TNAP|TNSALP MIM:171760|HGNC:HGNC:438|Ensembl:ENSG00000162551 1 1p36.12 alkaline phosphatase, biomineralization associated protein-coding ALPL alkaline phosphatase, biomineralization associated O alkaline phosphatase, tissue-nonspecific isozyme|alkaline phosphatase liver/bone/kidney isozyme|alkaline phosphatase, liver/bone/kidney|liver/bone/kidney-type alkaline phosphatase|tissue non-specific alkaline phosphatase|tissue-nonspecific ALP 20211031 - 9606 250 ALPP - ALP|ALPI|IAP|PALP|PLAP|PLAP-1 MIM:171800|HGNC:HGNC:439|Ensembl:ENSG00000163283 2 2q37.1 alkaline phosphatase, placental protein-coding ALPP alkaline phosphatase, placental O alkaline phosphatase, placental type|Intestinal alkaline phosphatase|Intestinal-type alkaline phosphatase|alkaline phosphatase Regan isozyme|alkaline phosphomonoesterase|glycerophosphatase|placental alkaline phosphatase 1 20211031 - 9606 251 ALPG - ALPPL|ALPPL2|GCAP MIM:171810|HGNC:HGNC:441|Ensembl:ENSG00000163286 2 2q37.1 alkaline phosphatase, germ cell protein-coding ALPG alkaline phosphatase, germ cell O alkaline phosphatase, germ cell type|ALP-1|Nagao isozyme|alkaline phosphatase Nagao isozyme|alkaline phosphatase, placental like 2|alkaline phosphatase, placental-like|germ cell alkaline phosphatase|placental-like alkaline phosphatase|testicular and thymus alkaline phosphatase 20211009 - 9606 253 ALS3 - ALS6 MIM:606640 18 18q21 amyotrophic lateral sclerosis 3 (autosomal dominant) unknown - - - - 20191002 - 9606 257 ALX3 - FND|FND1 MIM:606014|HGNC:HGNC:449|Ensembl:ENSG00000156150 1 1p13.3 ALX homeobox 3 protein-coding ALX3 ALX homeobox 3 O homeobox protein aristaless-like 3|aristaless-like homeobox 3|frontonasal dysplasia|proline-rich transcription factor ALX3 20211017 - 9606 258 AMBN - AI1F MIM:601259|HGNC:HGNC:452|Ensembl:ENSG00000178522 4 4q13.3 ameloblastin protein-coding AMBN ameloblastin O ameloblastin|enamel matrix protein 20210708 - 9606 259 AMBP - A1M|EDC1|HCP|HI30|IATIL|ITI|ITIL|ITILC|UTI MIM:176870|HGNC:HGNC:453|Ensembl:ENSG00000106927 9 9q32 alpha-1-microglobulin/bikunin precursor protein-coding AMBP alpha-1-microglobulin/bikunin precursor O protein AMBP|bikunin|complex-forming glycoprotein heterogeneous in charge|growth-inhibiting protein 19|inter-alpha-trypsin inhibitor light chain|protein HC|trypstatin|uristatin|uronic-acid-rich protein 20210822 - 9606 261 AMCN - AMC|AMC1|AMCN1 MIM:208100 5 5q35 arthrogryposis multiplex congenita, neurogenic unknown - - - Arthrogryposis multiplex congenital, neurogenic 20191002 - 9606 262 AMD1 - ADOMETDC|AMD|SAMDC MIM:180980|HGNC:HGNC:457|Ensembl:ENSG00000123505 6 6q21 adenosylmethionine decarboxylase 1 protein-coding AMD1 adenosylmethionine decarboxylase 1 O S-adenosylmethionine decarboxylase proenzyme|S-adenosylmethionine decarboxylase 1 20210802 - 9606 263 AMD1P2 - AMD|AMD2|AMDP1|AMDPX|AMDPY HGNC:HGNC:460 X|Y Xq28 and Yq12 adenosylmethionine decarboxylase 1 pseudogene 2 pseudo AMD1P2 adenosylmethionine decarboxylase 1 pseudogene 2 O S-adenosylmethionine decarboxylase 2 (pseudogene)|S-adenosylmethionine decarboxylase pseudogene 1|adenosylmethionine decarboxylase pseudogene 1 20210611 - 9606 265 AMELX - AI1E|AIH1|ALGN|AMG|AMGL|AMGX MIM:300391|HGNC:HGNC:461|Ensembl:ENSG00000125363 X Xp22.2 amelogenin X-linked protein-coding AMELX amelogenin X-linked O amelogenin, X isoform|amelogenin (X chromosome, amelogenesis imperfecta 1)|amelogenin (amelogenesis imperfecta 1, X-linked) 20210822 - 9606 266 AMELY - AMGL|AMGY MIM:410000|HGNC:HGNC:462|Ensembl:ENSG00000099721 Y Yp11.2 amelogenin Y-linked protein-coding AMELY amelogenin Y-linked O amelogenin, Y isoform|amelogenin (Y chromosome) 20210611 - 9606 267 AMFR - GP78|RNF45 MIM:603243|HGNC:HGNC:463|Ensembl:ENSG00000159461 16 16q13 autocrine motility factor receptor protein-coding AMFR autocrine motility factor receptor O E3 ubiquitin-protein ligase AMFR|RING finger protein 45|RING-type E3 ubiquitin transferase AMFR 20210808 - 9606 268 AMH - MIF|MIS MIM:600957|HGNC:HGNC:464|Ensembl:ENSG00000104899 19 19p13.3 anti-Mullerian hormone protein-coding AMH anti-Mullerian hormone O muellerian-inhibiting factor|Mullerian inhibiting factor|Mullerian inhibiting substance|anti-Muellerian hormone|muellerian-inhibiting substance 20211031 - 9606 269 AMHR2 - AMHR|MISR2|MISRII|MRII MIM:600956|HGNC:HGNC:465|Ensembl:ENSG00000135409 12 12q13.13 anti-Mullerian hormone receptor type 2 protein-coding AMHR2 anti-Mullerian hormone receptor type 2 O anti-Muellerian hormone type-2 receptor|AMH type II receptor|MIS type II receptor|Muellerian inhibiting substance type II receptor|Mullerian inhibiting substance type II receptor|anti-Muellerian hormone type II receptor|anti-Mullerian hormone receptor, type II 20210822 - 9606 270 AMPD1 - MAD|MADA|MMDD MIM:102770|HGNC:HGNC:468|Ensembl:ENSG00000116748 1 1p13.2 adenosine monophosphate deaminase 1 protein-coding AMPD1 adenosine monophosphate deaminase 1 O AMP deaminase 1|AMPD|adenosine monophosphate deaminase 1 (isoform M)|adenosine monophosphate deaminase-1 (muscle)|myoadenylate deaminase|skeletal muscle AMPD 20210708 - 9606 271 AMPD2 - PCH9|SPG63 MIM:102771|HGNC:HGNC:469|Ensembl:ENSG00000116337 1 1p13.3 adenosine monophosphate deaminase 2 protein-coding AMPD2 adenosine monophosphate deaminase 2 O AMP deaminase 2|AMPD|adenosine monophosphate deaminase 2 (isoform L) 20210708 - 9606 272 AMPD3 - - MIM:102772|HGNC:HGNC:470|Ensembl:ENSG00000133805 11 11p15.4 adenosine monophosphate deaminase 3 protein-coding AMPD3 adenosine monophosphate deaminase 3 O AMP deaminase 3|AMP aminohydrolase|adenosine monophosphate deaminase (isoform E)|erythrocyte AMP deaminase|erythrocyte type AMP deaminase|erythrocyte-specific AMP deaminase|myoadenylate deaminase 20210708 - 9606 273 AMPH - AMPH1 MIM:600418|HGNC:HGNC:471|Ensembl:ENSG00000078053 7 7p14.1 amphiphysin protein-coding AMPH amphiphysin O amphiphysin|amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)|amphiphysin I 20211026 - 9606 274 BIN1 - AMPH2|AMPHL|CNM2|SH3P9 MIM:601248|HGNC:HGNC:1052|Ensembl:ENSG00000136717 2 2q14.3 bridging integrator 1 protein-coding BIN1 bridging integrator 1 O myc box-dependent-interacting protein 1|amphiphysin II|amphiphysin-like protein|box dependant MYC interacting protein 1|box-dependent myc-interacting protein 1 20211016 - 9606 275 AMT - GCE|GCST|GCVT|NKH MIM:238310|HGNC:HGNC:473|Ensembl:ENSG00000145020 3 3p21.31 aminomethyltransferase protein-coding AMT aminomethyltransferase O aminomethyltransferase, mitochondrial|glycine cleavage system T protein|nonketotic hyperglycinemia 20210708 - 9606 276 AMY1A - AMY1 MIM:104700|HGNC:HGNC:474|Ensembl:ENSG00000237763 1 1p21.1 amylase alpha 1A protein-coding AMY1A amylase alpha 1A O alpha-amylase 1A|1,4-alpha-D-glucan glucanohydrolase 1|alpha-amylase 1|amylase alpha 1A (salivary)|amylase, salivary, alpha-1A|glycogenase|salivary alpha-amylase|salivary amylase alpha 1A 20211026 - 9606 277 AMY1B - AMY1 MIM:104701|HGNC:HGNC:475|Ensembl:ENSG00000174876 1 1p21.1 amylase alpha 1B protein-coding AMY1B amylase alpha 1B O alpha-amylase 1B|1,4-alpha-D-glucan glucanohydrolase 1|alpha-amylase 1|alpha-amylase 1A|amylase alpha 1B (salivary)|amylase, salivary, alpha-1B|glycogenase|salivary alpha-amylase|salivary amylase alpha 1B 20210611 - 9606 278 AMY1C - AMY1 MIM:104702|HGNC:HGNC:476|Ensembl:ENSG00000187733 1 1p21.1 amylase alpha 1C protein-coding AMY1C amylase alpha 1C O alpha-amylase 1C|1,4-alpha-D-glucan glucanohydrolase 1|alpha-amylase 1|alpha-amylase 1A|amylase alpha 1C (salivary)|amylase, salivary, alpha-1C|glycogenase|salivary alpha-amylase|salivary amylase alpha 1C 20210611 - 9606 279 AMY2A - AMY2|PA MIM:104650|HGNC:HGNC:477|Ensembl:ENSG00000243480 1 1p21.1 amylase alpha 2A protein-coding AMY2A amylase alpha 2A O pancreatic alpha-amylase|1,4-alpha-D-glucan glucanohydrolase|amylase alpha 2A (pancreatic)|glycogenase|pancreatic amylase alpha 2A 20211017 - 9606 280 AMY2B - AMY2|AMY3|HXA MIM:104660|HGNC:HGNC:478|Ensembl:ENSG00000240038 1 1p21.1 amylase alpha 2B protein-coding AMY2B amylase alpha 2B O alpha-amylase 2B|1,4-alpha-D-glucan glucanohydrolase 2B|amylase alpha 2B (pancreatic)|carcinoid alpha-amylase|glycogenase 20210611 - 9606 281 AMYP1 - AMY2P HGNC:HGNC:479|Ensembl:ENSG00000227408 1 1p21.1 amylase alpha pseudogene 1 pseudo AMYP1 amylase alpha pseudogene 1 O - 20210611 - 9606 282 ANCR - - HGNC:HGNC:482 15 15q11-q12 Angelman syndrome chromosome region other ANCR Angelman syndrome chromosome region O - 20211017 - 9606 283 ANG - ALS9|HEL168|RAA1|RNASE4|RNASE5 MIM:105850|HGNC:HGNC:483|Ensembl:ENSG00000214274 14 14q11.2 angiogenin protein-coding ANG angiogenin O angiogenin|RNase 5|angiogenin, ribonuclease, RNase A family, 5|epididymis luminal protein 168|ribonuclease 5|ribonuclease A A1|ribonuclease A family member 5 20211017 - 9606 284 ANGPT1 - AGP1|AGPT|ANG1|HAE5 MIM:601667|HGNC:HGNC:484|Ensembl:ENSG00000154188 8 8q23.1 angiopoietin 1 protein-coding ANGPT1 angiopoietin 1 O angiopoietin-1|ANG-1 20211106 - 9606 285 ANGPT2 - AGPT2|ANG2|LMPHM10 MIM:601922|HGNC:HGNC:485|Ensembl:ENSG00000091879 8 8p23.1 angiopoietin 2 protein-coding ANGPT2 angiopoietin 2 O angiopoietin-2|Tie2-ligand|angiopoietin-2B|angiopoietin-2a 20211106 - 9606 286 ANK1 - ANK|SPH1|SPH2 MIM:612641|HGNC:HGNC:492|Ensembl:ENSG00000029534 8 8p11.21 ankyrin 1 protein-coding ANK1 ankyrin 1 O ankyrin-1|ANK-1|ankyrin 1, erythrocytic|ankyrin-R|erythrocyte ankyrin 20211003 - 9606 287 ANK2 - ANK-2|CFAP87|FAP87|LQT4|brank-2 MIM:106410|HGNC:HGNC:493|Ensembl:ENSG00000145362 4 4q25-q26 ankyrin 2 protein-coding ANK2 ankyrin 2 O ankyrin-2|ankyrin 2, neuronal|ankyrin B|ankyrin, brain|ankyrin-2, nonerythrocytic|non-erythroid ankyrin 20211016 - 9606 288 ANK3 - ANKYRIN-G|MRT37 MIM:600465|HGNC:HGNC:494|Ensembl:ENSG00000151150 10 10q21.2 ankyrin 3 protein-coding ANK3 ankyrin 3 O ankyrin-3|ankyrin 3, node of Ranvier (ankyrin G) 20211003 - 9606 289 ANOP1 - MCOPS4 MIM:301590 X - anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) unknown - - - Anophthalmos-1 (with mental retardation but without anomalies) 20200712 - 9606 290 ANPEP - APN|CD13|GP150|LAP1|P150|PEPN MIM:151530|HGNC:HGNC:500|Ensembl:ENSG00000166825 15 15q26.1 alanyl aminopeptidase, membrane protein-coding ANPEP alanyl aminopeptidase, membrane O aminopeptidase N|AP-M|AP-N|alanyl (membrane) aminopeptidase|aminopeptidase M|hAPN|membrane alanyl aminopeptidase|microsomal aminopeptidase|myeloid plasma membrane glycoprotein CD13 20210822 - 9606 291 SLC25A4 - AAC1|ANT|ANT 1|ANT1|MTDPS12|MTDPS12A|PEO2|PEO3|PEOA2|T1 MIM:103220|HGNC:HGNC:10990|Ensembl:ENSG00000151729 4 4q35.1 solute carrier family 25 member 4 protein-coding SLC25A4 solute carrier family 25 member 4 O ADP/ATP translocase 1|ADP,ATP carrier protein 1|ADP,ATP carrier protein, heart/skeletal muscle|adenine nucleotide translocator 1 (skeletal muscle)|heart/skeletal muscle ATP/ADP translocator|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 20210905 - 9606 292 SLC25A5 - 2F1|AAC2|ANT2|T2|T3 MIM:300150|HGNC:HGNC:10991|Ensembl:ENSG00000005022 X Xq24 solute carrier family 25 member 5 protein-coding SLC25A5 solute carrier family 25 member 5 O ADP/ATP translocase 2|adenine nucleotide translocator 2 (fibroblast)|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 20210905 - 9606 293 SLC25A6 - AAC3|ANT|ANT 2|ANT 3|ANT3|ANT3Y MIM:300151|MIM:403000|HGNC:HGNC:10992|Ensembl:ENSG00000169100 X|Y X;Y solute carrier family 25 member 6 protein-coding SLC25A6 solute carrier family 25 member 6 O ADP/ATP translocase 3|ADP,ATP carrier protein 3|ADP,ATP carrier protein, liver|ADP/ATP translocator of liver|adenine nucleotide translocator 3|epididymis secretory sperm binding protein|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 20210905 - 9606 301 ANXA1 - ANX1|LPC1 MIM:151690|HGNC:HGNC:533|Ensembl:ENSG00000135046 9 9q21.13 annexin A1 protein-coding ANXA1 annexin A1 O annexin A1|annexin I (lipocortin I)|annexin-1|calpactin II|calpactin-2|chromobindin-9|epididymis secretory sperm binding protein|phospholipase A2 inhibitory protein 20211028 - 9606 302 ANXA2 - ANX2|ANX2L4|CAL1H|HEL-S-270|LIP2|LPC2|LPC2D|P36|PAP-IV MIM:151740|HGNC:HGNC:537|Ensembl:ENSG00000182718 15 15q22.2 annexin A2 protein-coding ANXA2 annexin A2 O annexin A2|annexin II|annexin-2|calpactin I heavy chain|calpactin I heavy polypeptide|calpactin-1 heavy chain|chromobindin 8|epididymis secretory protein Li 270|epididymis secretory sperm binding protein|lipocortin II|placental anticoagulant protein IV|protein I 20211031 - 9606 303 ANXA2P1 - ANX2L1|ANX2P1|LPC2A HGNC:HGNC:538 4 4q31.3 annexin A2 pseudogene 1 pseudo ANXA2P1 annexin A2 pseudogene 1 O annexin II (lipocortin II) pseudogene 1 20210724 - 9606 304 ANXA2P2 - ANX2L2|ANX2P2|LPC2B HGNC:HGNC:539 9 9p13.3 annexin A2 pseudogene 2 pseudo ANXA2P2 annexin A2 pseudogene 2 O annexin II (lipocortin II) pseudogene 2 20211026 - 9606 305 ANXA2P3 - ANX2L3|ANX2P3|LIP2|LPC2C HGNC:HGNC:540 10 10q21.3 annexin A2 pseudogene 3 pseudo ANXA2P3 annexin A2 pseudogene 3 O annexin II (lipocortin II) pseudogene 3 20210724 - 9606 306 ANXA3 - ANX3 MIM:106490|HGNC:HGNC:541|Ensembl:ENSG00000138772 4 4q21.21 annexin A3 protein-coding ANXA3 annexin A3 O annexin A3|35-alpha calcimedin|Annexin III (lipocortin III)|PAP-III|annexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha)|annexin-3|calcimedin 35-alpha|inositol 1,2-cyclic phosphate 2-phosphohydrolase|lipocortin III|placental anticoagulant protein III 20211031 - 9606 307 ANXA4 - ANX4|HEL-S-274|P32.5|PAP-II|PIG28|PP4-X|ZAP36 MIM:106491|HGNC:HGNC:542|Ensembl:ENSG00000196975 2 2p13.3 annexin A4 protein-coding ANXA4 annexin A4 O annexin A4|35-beta calcimedin|annexin IV (placental anticoagulant protein II)|annexin-4|carbohydrate-binding protein p33/p41|chromobindin-4|endonexin I|epididymis secretory protein Li 274|lipocortin IV|placental anticoagulant protein II|proliferation-inducing gene 28|proliferation-inducing protein 28|protein II 20210822 - 9606 308 ANXA5 - ANX5|CPB-I|ENX2|HEL-S-7|PP4|RPRGL3|VAC-alph MIM:131230|HGNC:HGNC:543|Ensembl:ENSG00000164111 4 4q27 annexin A5 protein-coding ANXA5 annexin A5 O annexin A5|CBP-I|PAP-I|VAC-alpha|anchorin CII|annexin V|annexin-5|calphobindin I|endonexin II|epididymis secretory protein Li 7|lipocortin V|placental anticoagulant protein 4|placental anticoagulant protein I|thromboplastin inhibitor|vascular anticoagulant-alpha 20211028 - 9606 309 ANXA6 - ANX6|CBP68|CPB-II|p68|p70 MIM:114070|HGNC:HGNC:544|Ensembl:ENSG00000197043 5 5q33.1 annexin A6 protein-coding ANXA6 annexin A6 O annexin A6|67 kDa calelectrin|annexin VI (p68)|annexin-6|calcium-binding protein p68|calelectrin|calphobindin II|chromobindin-20|lipocortin VI|testis secretory sperm-binding protein Li 198a 20210704 - 9606 310 ANXA7 - ANX7|SNX|SYNEXIN MIM:186360|HGNC:HGNC:545|Ensembl:ENSG00000138279 10 10q22.2 annexin A7 protein-coding ANXA7 annexin A7 O annexin A7|annexin VII|annexin-7 20210808 - 9606 311 ANXA11 - ALS23|ANX11|CAP-50|CAP50 MIM:602572|HGNC:HGNC:535|Ensembl:ENSG00000122359 10 10q22.3 annexin A11 protein-coding ANXA11 annexin A11 O annexin A11|56 kDa autoantigen|annexin XI|annexin-11|calcyclin-associated annexin 50|epididymis secretory sperm binding protein 20211016 - 9606 312 ANXA13 - ANX13|ISA MIM:602573|HGNC:HGNC:536|Ensembl:ENSG00000104537 8 8q24.13 annexin A13 protein-coding ANXA13 annexin A13 O annexin A13|annexin XIII|annexin, intestine-specific|annexin-13|intestine-specific annexin 20210611 - 9606 313 AOAH - - MIM:102593|HGNC:HGNC:548|Ensembl:ENSG00000136250 7 7p14.2 acyloxyacyl hydrolase protein-coding AOAH acyloxyacyl hydrolase O acyloxyacyl hydrolase|acyloxyacyl hydrolase (neutrophil) 20210611 - 9606 314 AOC2 - DAO2|RAO|SSAO MIM:602268|HGNC:HGNC:549|Ensembl:ENSG00000131480 17 17q21.31 amine oxidase copper containing 2 protein-coding AOC2 amine oxidase copper containing 2 O retina-specific copper amine oxidase|amine oxidase, copper containing 2 (retina-specific)|semicarbazide-sensitive amine oxidase 20210708 - 9606 316 AOX1 - AO|AOH1 MIM:602841|HGNC:HGNC:553|Ensembl:ENSG00000138356 2 2q33.1 aldehyde oxidase 1 protein-coding AOX1 aldehyde oxidase 1 O aldehyde oxidase|azaheterocycle hydroxylase 20210822 - 9606 317 APAF1 - APAF-1|CED4 MIM:602233|HGNC:HGNC:576|Ensembl:ENSG00000120868 12 12q23.1 apoptotic peptidase activating factor 1 protein-coding APAF1 apoptotic peptidase activating factor 1 O apoptotic protease-activating factor 1 20210905 - 9606 318 NUDT2 - APAH1 MIM:602852|HGNC:HGNC:8049|Ensembl:ENSG00000164978 9 9p13.3 nudix hydrolase 2 protein-coding NUDT2 nudix hydrolase 2 O bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]|Ap4A hydrolase 1|Ap4Aase|bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)|diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase|diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase|diadenosine tetraphosphatase|nucleoside diphosphate-linked moiety X motif 2|nudix (nucleoside diphosphate linked moiety X)-type motif 2|nudix motif 2 20210708 - 9606 319 APOF - Apo-F|LTIP MIM:107760|HGNC:HGNC:615|Ensembl:ENSG00000175336 12 12q13.3 apolipoprotein F protein-coding APOF apolipoprotein F O apolipoprotein F|lipid transfer inhibitor protein 20210611 - 9606 320 APBA1 - D9S411E|LIN10|MINT1|X11|X11A|X11ALPHA MIM:602414|HGNC:HGNC:578|Ensembl:ENSG00000107282 9 9q21.12 amyloid beta precursor protein binding family A member 1 protein-coding APBA1 amyloid beta precursor protein binding family A member 1 O amyloid-beta A4 precursor protein-binding family A member 1|adapter protein X11alpha|adaptor protein X11alpha|amyloid beta (A4) precursor protein-binding, family A, member 1 (X11)|mint-1|neuron-specific X11 protein|neuronal munc18-1-interacting protein 1|phosphotyrosine-binding/-interacting domain (PTB)-bearing protein 20210708 - 9606 321 APBA2 - D15S1518E|HsT16821|LIN-10|MGC:14091|MINT2|X11-BETA|X11L MIM:602712|HGNC:HGNC:579|Ensembl:ENSG00000034053 15 15q13.1 amyloid beta precursor protein binding family A member 2 protein-coding APBA2 amyloid beta precursor protein binding family A member 2 O amyloid-beta A4 precursor protein-binding family A member 2|X11-like protein|adapter protein X11beta|amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)|mint-2|neuron-specific X11L protein|neuronal munc18-1-interacting protein 2|phosphotyrosine-binding/-interacting domain (PTB)-bearing protein 20210611 - 9606 322 APBB1 - FE65|MGC:9072|RIR MIM:602709|HGNC:HGNC:581|Ensembl:ENSG00000166313 11 11p15.4 amyloid beta precursor protein binding family B member 1 protein-coding APBB1 amyloid beta precursor protein binding family B member 1 O amyloid-beta A4 precursor protein-binding family B member 1|adaptor protein FE65a2|amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)|stat-like protein 20210802 - 9606 323 APBB2 - FE65L|FE65L1 MIM:602710|HGNC:HGNC:582|Ensembl:ENSG00000163697 4 4p14-p13 amyloid beta precursor protein binding family B member 2 protein-coding APBB2 amyloid beta precursor protein binding family B member 2 O amyloid-beta A4 precursor protein-binding family B member 2|Fe65-like 1|protein Fe65-like 1 20210726 - 9606 324 APC - BTPS2|DESMD|DP2|DP2.5|DP3|GS|PPP1R46 MIM:611731|HGNC:HGNC:583|Ensembl:ENSG00000134982 5 5q22.2 APC regulator of WNT signaling pathway protein-coding APC APC regulator of WNT signaling pathway O adenomatous polyposis coli protein|APC, WNT signaling pathway regulator|WNT signaling pathway regulator|adenomatosis polyposis coli tumor suppressor|adenomatous polyposis coli (APC)|deleted in polyposis 2.5|epididymis secretory sperm binding protein|protein phosphatase 1, regulatory subunit 46|truncated adenomatosis polyposis coli 20211027 - 9606 325 APCS - HEL-S-92n|PTX2|SAP MIM:104770|HGNC:HGNC:584|Ensembl:ENSG00000132703 1 1q23.2 amyloid P component, serum protein-coding APCS amyloid P component, serum O serum amyloid P-component|9.5S alpha-1-glycoprotein|epididymis secretory sperm binding protein Li 92n|pentaxin-related|pentraxin-2|pentraxin-related 20210708 - 9606 326 AIRE - AIRE1|APECED|APS1|APSI|PGA1 MIM:607358|HGNC:HGNC:360|Ensembl:ENSG00000160224 21 21q22.3 autoimmune regulator protein-coding AIRE autoimmune regulator O autoimmune regulator|autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein 20210822 - 9606 327 APEH - AARE|ACPH|APH|D3F15S2|D3S48E|DNF15S2|OPH MIM:102645|HGNC:HGNC:586|Ensembl:ENSG00000164062 3 3p21.31 acylaminoacyl-peptide hydrolase protein-coding APEH acylaminoacyl-peptide hydrolase O acylamino-acid-releasing enzyme|N-acylaminoacyl-peptide hydrolase|acyl-peptide hydrolase|acylaminoacyl-peptidase|oxidized protein hydrolase 20210708 - 9606 328 APEX1 - APE|APE1|APEN|APEX|APX|HAP1|REF1 MIM:107748|HGNC:HGNC:587|Ensembl:ENSG00000100823 14 14q11.2 apurinic/apyrimidinic endodeoxyribonuclease 1 protein-coding APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 O DNA-(apurinic or apyrimidinic site) endonuclease|AP endonuclease class I|AP lyase|APEX nuclease (multifunctional DNA repair enzyme) 1|DNA-(apurinic or apyrimidinic site) lyase|apurinic-apyrimidinic endonuclease 1|apurinic/apyrimidinic (abasic) endonuclease|deoxyribonuclease (apurinic or apyrimidinic)|protein REF-1|redox factor-1 20211031 - 9606 329 BIRC2 - API1|HIAP2|Hiap-2|MIHB|RNF48|c-IAP1|cIAP1 MIM:601712|HGNC:HGNC:590|Ensembl:ENSG00000110330 11 11q22.2 baculoviral IAP repeat containing 2 protein-coding BIRC2 baculoviral IAP repeat containing 2 O baculoviral IAP repeat-containing protein 2|IAP homolog B|IAP-2|NFR2-TRAF signalling complex protein|RING finger protein 48|RING-type E3 ubiquitin transferase BIRC2|TNFR2-TRAF-signaling complex protein 2|apoptosis inhibitor 1|cellular inhibitor of apoptosis 1|inhibitor of apoptosis protein 2 20211003 - 9606 330 BIRC3 - AIP1|API2|CIAP2|HAIP1|HIAP1|IAP-1|MALT2|MIHC|RNF49|c-IAP2 MIM:601721|HGNC:HGNC:591|Ensembl:ENSG00000023445 11 11q22.2 baculoviral IAP repeat containing 3 protein-coding BIRC3 baculoviral IAP repeat containing 3 O baculoviral IAP repeat-containing protein 3|IAP homolog C|RING finger protein 49|RING-type E3 ubiquitin transferase BIRC3|TNFR2-TRAF signaling complex protein|TNFR2-TRAF-signaling complex protein 1|apoptosis inhibitor 2|cellular inhibitor of apoptosis 2|inhibitor of apoptosis protein 1|mammalian IAP homolog C 20211017 - 9606 331 XIAP - API3|BIRC4|IAP-3|ILP1|MIHA|XLP2|hIAP-3|hIAP3 MIM:300079|HGNC:HGNC:592|Ensembl:ENSG00000101966 X Xq25 X-linked inhibitor of apoptosis protein-coding XIAP X-linked inhibitor of apoptosis O E3 ubiquitin-protein ligase XIAP|IAP-like protein 1|RING-type E3 ubiquitin transferase XIAP|X-linked IAP|X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase|baculoviral IAP repeat-containing protein 4|inhibitor of apoptosis protein 3 20211003 - 9606 332 BIRC5 - API4|EPR-1 MIM:603352|HGNC:HGNC:593|Ensembl:ENSG00000089685 17 17q25.3 baculoviral IAP repeat containing 5 protein-coding BIRC5 baculoviral IAP repeat containing 5 O baculoviral IAP repeat-containing protein 5|apoptosis inhibitor 4|apoptosis inhibitor survivin|survivin variant 3 alpha 20211031 - 9606 333 APLP1 - APLP MIM:104775|HGNC:HGNC:597|Ensembl:ENSG00000105290 19 19q13.12 amyloid beta precursor like protein 1 protein-coding APLP1 amyloid beta precursor like protein 1 O amyloid-like protein 1|amyloid beta (A4) precursor-like protein 1|amyloid precursor-like protein 1 20210905 - 9606 334 APLP2 - APLP-2|APPH|APPL2|CDEBP MIM:104776|HGNC:HGNC:598|Ensembl:ENSG00000084234 11 11q24.3 amyloid beta precursor like protein 2 protein-coding APLP2 amyloid beta precursor like protein 2 O amyloid-like protein 2|CDEI box-binding protein|amyloid beta (A4) precursor-like protein 2|amyloid precursor protein homolog HSD-2|testicular tissue protein Li 23 20211016 - 9606 335 APOA1 - HPALP2|apo(a) MIM:107680|HGNC:HGNC:600|Ensembl:ENSG00000118137 11 11q23.3 apolipoprotein A1 protein-coding APOA1 apolipoprotein A1 O apolipoprotein A-I|apo-AI|epididymis secretory sperm binding protein 20211031 - 9606 336 APOA2 - Apo-AII|ApoA-II|apoAII MIM:107670|HGNC:HGNC:601|Ensembl:ENSG00000158874 1 1q23.3 apolipoprotein A2 protein-coding APOA2 apolipoprotein A2 O apolipoprotein A-II 20210919 - 9606 337 APOA4 - - MIM:107690|HGNC:HGNC:602|Ensembl:ENSG00000110244 11 11q23.3 apolipoprotein A4 protein-coding APOA4 apolipoprotein A4 O apolipoprotein A-IV|apo-AIV|apoA-IV 20210719 - 9606 338 APOB - FCHL2|FLDB|LDLCQ4|apoB-100|apoB-48 MIM:107730|HGNC:HGNC:603|Ensembl:ENSG00000084674 2 2p24.1 apolipoprotein B protein-coding APOB apolipoprotein B O apolipoprotein B-100|apolipoprotein B (including Ag(x) antigen)|apolipoprotein B48 20211031 - 9606 339 APOBEC1 - APOBEC-1|BEDP|CDAR1|HEPR MIM:600130|HGNC:HGNC:604|Ensembl:ENSG00000111701 12 12p13.31 apolipoprotein B mRNA editing enzyme catalytic subunit 1 protein-coding APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 O C->U-editing enzyme APOBEC-1|apolipoprotein B mRNA editing enzyme complex-1|apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1|apolipoprotein B mRNA-editing enzyme 1|mRNA(cytosine(6666)) deaminase 1 20211003 - 9606 341 APOC1 - Apo-CI|ApoC-I|apo-CIB|apoC-IB MIM:107710|HGNC:HGNC:607|Ensembl:ENSG00000130208 19 19q13.32 apolipoprotein C1 protein-coding APOC1 apolipoprotein C1 O apolipoprotein C-I 20210731 - 9606 342 APOC1P1 - - HGNC:HGNC:608|Ensembl:ENSG00000214855 19 19q13.32 apolipoprotein C1 pseudogene 1 pseudo APOC1P1 apolipoprotein C1 pseudogene 1 O apolipoprotein C-I pseudogene 1|lincRNA-APOC1P1-3 20210611 - 9606 343 AQP8 - AQP-8 MIM:603750|HGNC:HGNC:642|Ensembl:ENSG00000103375 16 16p12.1 aquaporin 8 protein-coding AQP8 aquaporin 8 O aquaporin-8 20210906 - 9606 344 APOC2 - APO-CII|APOC-II MIM:608083|HGNC:HGNC:609|Ensembl:ENSG00000234906 19 19q13.32 apolipoprotein C2 protein-coding APOC2 apolipoprotein C2 O apolipoprotein C-II 20210906 - 9606 345 APOC3 - APOCIII MIM:107720|HGNC:HGNC:610|Ensembl:ENSG00000110245 11 11q23.3 apolipoprotein C3 protein-coding APOC3 apolipoprotein C3 O apolipoprotein C-III 20211031 - 9606 346 APOC4 - APO-CIV|APOC-IV MIM:600745|HGNC:HGNC:611|Ensembl:ENSG00000267467 19 19q13.32 apolipoprotein C4 protein-coding APOC4 apolipoprotein C4 O apolipoprotein C-IV 20211009 - 9606 347 APOD - - MIM:107740|HGNC:HGNC:612|Ensembl:ENSG00000189058 3 3q29 apolipoprotein D protein-coding APOD apolipoprotein D O apolipoprotein D|apo-D 20210926 - 9606 348 APOE - AD2|APO-E|ApoE4|LDLCQ5|LPG MIM:107741|HGNC:HGNC:613|Ensembl:ENSG00000130203 19 19q13.32 apolipoprotein E protein-coding APOE apolipoprotein E O apolipoprotein E|apolipoprotein E3 20211031 - 9606 350 APOH - B2G1|B2GP1|BG MIM:138700|HGNC:HGNC:616|Ensembl:ENSG00000091583 17 17q24.2 apolipoprotein H protein-coding APOH apolipoprotein H O beta-2-glycoprotein 1|APC inhibitor|B2GPI|activated protein C-binding protein|anticardiolipin cofactor|apo-H|apolipoprotein H (beta-2-glycoprotein I)|beta(2)GPI|epididymis secretory sperm binding protein 20210906 - 9606 351 APP - AAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN-II|PN2|alpha-sAPP|preA4 MIM:104760|HGNC:HGNC:620|Ensembl:ENSG00000142192 21 21q21.3 amyloid beta precursor protein protein-coding APP amyloid beta precursor protein O amyloid-beta precursor protein|alzheimer disease amyloid protein|amyloid beta (A4) precursor protein|amyloid beta A4 protein|amyloid precursor protein|beta-amyloid peptide|beta-amyloid peptide(1-40)|beta-amyloid peptide(1-42)|beta-amyloid precursor protein|cerebral vascular amyloid peptide|peptidase nexin-II|protease nexin-II|testicular tissue protein Li 2 20211031 - 9606 353 APRT - AMP|APRTD MIM:102600|HGNC:HGNC:626|Ensembl:ENSG00000198931 16 16q24.3 adenine phosphoribosyltransferase protein-coding APRT adenine phosphoribosyltransferase O adenine phosphoribosyltransferase|AMP diphosphorylase|AMP pyrophosphorylase|transphosphoribosidase 20210905 - 9606 354 KLK3 - APS|KLK2A1|PSA|hK3 MIM:176820|HGNC:HGNC:6364|Ensembl:ENSG00000142515 19 19q13.33 kallikrein related peptidase 3 protein-coding KLK3 kallikrein related peptidase 3 O prostate-specific antigen|P-30 antigen|gamma-seminoprotein|kallikrein-3|semenogelase|seminin 20211031 - 9606 355 FAS - ALPS1A|APO-1|APT1|CD95|FAS1|FASTM|TNFRSF6 MIM:134637|HGNC:HGNC:11920|Ensembl:ENSG00000026103 10 10q23.31 Fas cell surface death receptor protein-coding FAS Fas cell surface death receptor O tumor necrosis factor receptor superfamily member 6|APO-1 cell surface antigen|CD95 antigen|FASLG receptor|Fas (TNF receptor superfamily, member 6)|Fas AMA|TNF receptor superfamily member 6|apoptosis antigen 1|apoptosis signaling receptor FAS|apoptosis-mediating surface antigen FAS|mutant tumor necrosis receptor superfamily member 6|tumor necrosis factor receptor superfamily, member 6 20211017 - 9606 356 FASLG - ALPS1B|APT1LG1|APTL|CD178|CD95-L|CD95L|FASL|TNFSF6|TNLG1A MIM:134638|HGNC:HGNC:11936|Ensembl:ENSG00000117560 1 1q24.3 Fas ligand protein-coding FASLG Fas ligand O tumor necrosis factor ligand superfamily member 6|CD95 ligand|Fas ligand (TNF superfamily, member 6)|apoptosis (APO-1) antigen ligand 1|apoptosis antigen ligand|fas antigen ligand|mutant tumor necrosis factor family member 6|tumor necrosis factor ligand 1A 20211003 - 9606 357 SHROOM2 - APXL|HSAPXL MIM:300103|HGNC:HGNC:630|Ensembl:ENSG00000146950 X Xp22.2 shroom family member 2 protein-coding SHROOM2 shroom family member 2 O protein Shroom2|APX homolog of Xenopus|apical-like protein 20210905 - 9606 358 AQP1 - AQP-CHIP|CHIP28|CO MIM:107776|HGNC:HGNC:633|Ensembl:ENSG00000240583 7 7p14.3 aquaporin 1 (Colton blood group) protein-coding AQP1 aquaporin 1 (Colton blood group) O aquaporin-1|Colton blood group antigen|aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)|aquaporin 1, Colton blood group antigen|aquaporin-CHIP|channel-like integral membrane protein, 28-kDa|urine water channel|water channel protein for red blood cells and kidney proximal tubule 20211031 - 9606 359 AQP2 - AQP-CD|NDI2|WCH-CD MIM:107777|HGNC:HGNC:634|Ensembl:ENSG00000167580 12 12q13.12 aquaporin 2 protein-coding AQP2 aquaporin 2 O aquaporin-2|ADH water channel|AQP-2|aquaporin 2 (collecting duct)|aquaporin-CD|collecting duct water channel protein|water channel protein for renal collecting duct|water-channel aquaporin 2 20211017 - 9606 360 AQP3 - AQP-3|GIL MIM:600170|HGNC:HGNC:636|Ensembl:ENSG00000165272 9 9p13.3 aquaporin 3 (Gill blood group) protein-coding AQP3 aquaporin 3 (Gill blood group) O aquaporin-3|aquaglyceroporin-3|aquaporin 3 (GIL blood group) 20211031 - 9606 361 AQP4 - MIWC|WCH4 MIM:600308|HGNC:HGNC:637|Ensembl:ENSG00000171885 18 18q11.2 aquaporin 4 protein-coding AQP4 aquaporin 4 O aquaporin-4|aquaporin type4|mercurial-insensitive water channel 20211017 - 9606 362 AQP5 - AQP-5|PPKB MIM:600442|HGNC:HGNC:638|Ensembl:ENSG00000161798 12 12q13.12 aquaporin 5 protein-coding AQP5 aquaporin 5 O aquaporin-5 20211026 - 9606 363 AQP6 - AQP2L|KID MIM:601383|HGNC:HGNC:639|Ensembl:ENSG00000086159 12 12q13.12 aquaporin 6 protein-coding AQP6 aquaporin 6 O aquaporin-6|AQP-6|aquaporin 2-like, kidney specific|aquaporin-6, kidney specific|hKID|kidney-specific aquaporin 20210611 - 9606 364 AQP7 - AQP7L|AQPap|GLYCQTL MIM:602974|HGNC:HGNC:640|Ensembl:ENSG00000165269 9 9p13.3 aquaporin 7 protein-coding AQP7 aquaporin 7 O aquaporin-7|aquaglyceroporin-7|aquaporin adipose 20210822 - 9606 366 AQP9 - AQP-9|HsT17287|SSC1|T17287 MIM:602914|HGNC:HGNC:643|Ensembl:ENSG00000103569 15 15q21.3 aquaporin 9 protein-coding AQP9 aquaporin 9 O aquaporin-9|aquaglyceroporin-9|small solute channel 1 20210822 - 9606 367 AR - AIS|AR8|DHTR|HUMARA|HYSP1|KD|NR3C4|SBMA|SMAX1|TFM MIM:313700|HGNC:HGNC:644|Ensembl:ENSG00000169083 X Xq12 androgen receptor protein-coding AR androgen receptor O androgen receptor|dihydrotestosterone receptor|nuclear receptor subfamily 3 group C member 4 20211031 - 9606 368 ABCC6 - ABC34|ARA|EST349056|GACI2|MLP1|MOAT-E|MOATE|MRP6|PXE|PXE1|URG7 MIM:603234|HGNC:HGNC:57|Ensembl:ENSG00000091262 16 16p13.11 ATP binding cassette subfamily C member 6 protein-coding ABCC6 ATP binding cassette subfamily C member 6 O ATP-binding cassette sub-family C member 6|URG7 protein|ATP-binding cassette, sub-family C (CFTR/MRP), member 6|anthracycline resistance-associated protein|multi-specific organic anion transporter E|multidrug resistance-associated protein 6 20211016 - 9606 369 ARAF - A-RAF|ARAF1|PKS2|RAFA1 MIM:311010|HGNC:HGNC:646|Ensembl:ENSG00000078061 X Xp11.3 A-Raf proto-oncogene, serine/threonine kinase protein-coding ARAF A-Raf proto-oncogene, serine/threonine kinase O serine/threonine-protein kinase A-Raf|A-Raf proto-oncogene serine/threonine-protein kinase|Oncogene ARAF1|Ras-binding protein DA-Raf|proto-oncogene A-Raf-1|proto-oncogene Pks|v-raf murine sarcoma 3611 viral oncogene homolog 1|v-raf murine sarcoma 3611 viral oncogene-like protein 20211028 - 9606 372 ARCN1 - COPD|SRMMD MIM:600820|HGNC:HGNC:649|Ensembl:ENSG00000095139 11 11q23.3 archain 1 protein-coding ARCN1 archain 1 O coatomer subunit delta|COPI coat complex subunit delta|archain vesicle transport protein 1|coatomer delta subunit|coatomer protein complex, subunit delta|coatomer protein delta-COP|delta-COP|delta-coat protein 20211028 - 9606 373 TRIM23 - ARD1|ARFD1|RNF46 MIM:601747|HGNC:HGNC:660|Ensembl:ENSG00000113595 5 5q12.3 tripartite motif containing 23 protein-coding TRIM23 tripartite motif containing 23 O E3 ubiquitin-protein ligase TRIM23|ADP-ribosylation factor domain protein 1, 64kDa|ADP-ribosylation factor domain-containing protein 1|ARF domain protein 1|GTP-binding protein ARD-1|RING finger protein 46|RING-type E3 ubiquitin transferase TRIM23|tripartite motif protein TRIM23|tripartite motif-containing protein 23 20210912 - 9606 374 AREG - AR|AREGB|CRDGF|SDGF MIM:104640|HGNC:HGNC:651|Ensembl:ENSG00000109321 4 4q13.3 amphiregulin protein-coding AREG amphiregulin O amphiregulin|amphiregulin B|colorectum cell-derived growth factor|schwannoma-derived growth factor 20211009 - 9606 375 ARF1 - PVNH8 MIM:103180|HGNC:HGNC:652|Ensembl:ENSG00000143761 1 1q42.13 ADP ribosylation factor 1 protein-coding ARF1 ADP ribosylation factor 1 O ADP-ribosylation factor 1 20210906 - 9606 377 ARF3 - - MIM:103190|HGNC:HGNC:654|Ensembl:ENSG00000134287 12 12q13.12 ADP ribosylation factor 3 protein-coding ARF3 ADP ribosylation factor 3 O ADP-ribosylation factor 3|small GTP binding protein 20211016 - 9606 378 ARF4 - ARF2 MIM:601177|HGNC:HGNC:655|Ensembl:ENSG00000168374 3 3p14.3 ADP ribosylation factor 4 protein-coding ARF4 ADP ribosylation factor 4 O ADP-ribosylation factor 4|ADP-ribosylation factor 2 20210905 - 9606 379 ARL4D - ARF4L MIM:600732|HGNC:HGNC:656|Ensembl:ENSG00000175906 17 17q21.31 ADP ribosylation factor like GTPase 4D protein-coding ARL4D ADP ribosylation factor like GTPase 4D O ADP-ribosylation factor-like protein 4D|ADP-ribosylation factor-like 4D|ADP-ribosylation factor-like protein 4L 20210709 - 9606 380 ARF4P1 - ARF4P HGNC:HGNC:657 9 9q34.2 ADP ribosylation factor 4 pseudogene 1 pseudo ARF4P1 ADP ribosylation factor 4 pseudogene 1 O ADP-ribosylation factor 4 pseudogene 20210611 - 9606 381 ARF5 - - MIM:103188|HGNC:HGNC:658|Ensembl:ENSG00000004059 7 7q32.1 ADP ribosylation factor 5 protein-coding ARF5 ADP ribosylation factor 5 O ADP-ribosylation factor 5 20210911 - 9606 382 ARF6 - - MIM:600464|HGNC:HGNC:659|Ensembl:ENSG00000165527 14 14q21.3 ADP ribosylation factor 6 protein-coding ARF6 ADP ribosylation factor 6 O ADP-ribosylation factor 6 20210719 - 9606 383 ARG1 - - MIM:608313|HGNC:HGNC:663|Ensembl:ENSG00000118520 6 6q23.2 arginase 1 protein-coding ARG1 arginase 1 O arginase-1|arginase, liver|liver-type arginase|type I arginase 20211031 - 9606 384 ARG2 - - MIM:107830|HGNC:HGNC:664|Ensembl:ENSG00000081181 14 14q24.1 arginase 2 protein-coding ARG2 arginase 2 O arginase-2, mitochondrial|L-arginine amidinohydrolase|L-arginine ureahydrolase|arginase II|arginase, type II|kidney arginase|kidney-type arginase|non-hepatic arginase|nonhepatic arginase|type II arginase 20211017 - 9606 387 RHOA - ARH12|ARHA|EDFAOB|RHO12|RHOH12 MIM:165390|HGNC:HGNC:667|Ensembl:ENSG00000067560 3 3p21.31 ras homolog family member A protein-coding RHOA ras homolog family member A O transforming protein RhoA|Aplysia ras-related homolog 12|epididymis secretory sperm binding protein|oncogene RHO H12|small GTP binding protein RhoA 20211031 - 9606 388 RHOB - ARH6|ARHB|MST081|MSTP081|RHOH6 MIM:165370|HGNC:HGNC:668|Ensembl:ENSG00000143878 2 2p24.1 ras homolog family member B protein-coding RHOB ras homolog family member B O rho-related GTP-binding protein RhoB|Aplysia RAS-related homolog 6|h6|oncogene RHO H6|ras homolog gene family, member B|rho cDNA clone 6 20210809 - 9606 389 RHOC - ARH9|ARHC|H9|RHOH9 MIM:165380|HGNC:HGNC:669|Ensembl:ENSG00000155366 1 1p13.2 ras homolog family member C protein-coding RHOC ras homolog family member C O rho-related GTP-binding protein RhoC|RAS-related homolog 9|epididymis secretory sperm binding protein|oncogene RHO H9|ras homolog gene family, member C|rho cDNA clone 9|rhoC GTPase|small GTP binding protein RhoC 20210905 - 9606 390 RND3 - ARHE|Rho8|RhoE|memB MIM:602924|HGNC:HGNC:671|Ensembl:ENSG00000115963 2 2q23.3 Rho family GTPase 3 protein-coding RND3 Rho family GTPase 3 O rho-related GTP-binding protein RhoE|protein MemB|ras homolog gene family, member E|rho-related GTP-binding protein Rho8|small GTP binding protein Rho8 20211017 - 9606 391 RHOG - ARHG MIM:179505|HGNC:HGNC:672|Ensembl:ENSG00000177105 11 11p15.4 ras homolog family member G protein-coding RHOG ras homolog family member G O rho-related GTP-binding protein RhoG|ras homolog gene family, member G (rho G) 20210808 - 9606 392 ARHGAP1 - CDC42GAP|RHOGAP|RHOGAP1|p50rhoGAP MIM:602732|HGNC:HGNC:673|Ensembl:ENSG00000175220 11 11p11.2 Rho GTPase activating protein 1 protein-coding ARHGAP1 Rho GTPase activating protein 1 O rho GTPase-activating protein 1|CDC42 GTPase-activating protein|GTPase-activating protein rhoGAP|GTPase-activating protein rhoOGAP|GTPase-activating protein, Rho, 1|rho-related small GTPase protein activator|rho-type GTPase-activating protein 1 20211009 - 9606 393 ARHGAP4 - C1|RGC1|RhoGAP4|SrGAP4|p115 MIM:300023|HGNC:HGNC:674|Ensembl:ENSG00000089820 X Xq28 Rho GTPase activating protein 4 protein-coding ARHGAP4 Rho GTPase activating protein 4 O rho GTPase-activating protein 4|Rho-GAP hematopoietic protein C1|rho-type GTPase-activating protein 4 20210708 - 9606 394 ARHGAP5 - GFI2|RhoGAP5|p190-B|p190BRhoGAP MIM:602680|HGNC:HGNC:675|Ensembl:ENSG00000100852 14 14q12 Rho GTPase activating protein 5 protein-coding ARHGAP5 Rho GTPase activating protein 5 O rho GTPase-activating protein 5|growth factor independent 2|p100 RasGAP-associated p105 protein|p105 RhoGAP|rho-type GTPase-activating protein 5 20210802 - 9606 395 ARHGAP6 - RHOGAP6|RHOGAPX-1 MIM:300118|HGNC:HGNC:676|Ensembl:ENSG00000047648 X Xp22.2 Rho GTPase activating protein 6 protein-coding ARHGAP6 Rho GTPase activating protein 6 O rho GTPase-activating protein 6|Rho-type GTPase-activating protein RhoGAPX-1|rho-type GTPase-activating protein 6 20210708 - 9606 396 ARHGDIA - GDIA1|HEL-S-47e|NPHS8|RHOGDI|RHOGDI-1 MIM:601925|HGNC:HGNC:678|Ensembl:ENSG00000141522 17 17q25.3 Rho GDP dissociation inhibitor alpha protein-coding ARHGDIA Rho GDP dissociation inhibitor alpha O rho GDP-dissociation inhibitor 1|GDP-dissociation inhibitor, aplysia RAS-related 1|Rho GDP dissociation inhibitor (GDI) alpha|epididymis secretory sperm binding protein Li 47e 20210808 - 9606 397 ARHGDIB - D4|GDIA2|GDID4|LYGDI|Ly-GDI|RAP1GN1|RhoGDI2 MIM:602843|HGNC:HGNC:679|Ensembl:ENSG00000111348 12 12p12.3 Rho GDP dissociation inhibitor beta protein-coding ARHGDIB Rho GDP dissociation inhibitor beta O rho GDP-dissociation inhibitor 2|Rho GDI 2|Rho GDP dissociation inhibitor (GDI) beta|rho-GDI beta 20210708 - 9606 398 ARHGDIG - RHOGDI-3 MIM:602844|HGNC:HGNC:680|Ensembl:ENSG00000242173 16 16p13.3 Rho GDP dissociation inhibitor gamma protein-coding ARHGDIG Rho GDP dissociation inhibitor gamma O rho GDP-dissociation inhibitor 3|Rho GDP dissociation inhibitor (GDI) gamma|RhoGDI gamma|rho GDI 3|rho-GDI gamma 20210708 - 9606 399 RHOH - ARHH|TTF MIM:602037|HGNC:HGNC:686|Ensembl:ENSG00000168421 4 4p14 ras homolog family member H protein-coding RHOH ras homolog family member H O rho-related GTP-binding protein RhoH|GTP-binding protein TTF|TTF, translocation three four|ras homolog gene family, member H 20210708 - 9606 400 ARL1 - ARFL1 MIM:603425|HGNC:HGNC:692|Ensembl:ENSG00000120805 12 12q23.2 ADP ribosylation factor like GTPase 1 protein-coding ARL1 ADP ribosylation factor like GTPase 1 O ADP-ribosylation factor-like protein 1|ADP-ribosylation factor-like 1 20210905 - 9606 401 PHOX2A - ARIX|CFEOM2|FEOM2|NCAM2|PMX2A MIM:602753|HGNC:HGNC:691|Ensembl:ENSG00000165462 11 11q13.4 paired like homeobox 2A protein-coding PHOX2A paired like homeobox 2A O paired mesoderm homeobox protein 2A|ARIX1 homeodomain protein|aristaless homeobox homolog|aristaless homeobox protein homolog|arix homeodomain protein 20210814 - 9606 402 ARL2 - ARFL2|MRCS1 MIM:601175|HGNC:HGNC:693|Ensembl:ENSG00000213465 11 11q13.1 ADP ribosylation factor like GTPase 2 protein-coding ARL2 ADP ribosylation factor like GTPase 2 O ADP-ribosylation factor-like protein 2|ADP-ribosylation factor-like 2 20210708 - 9606 403 ARL3 - ARFL3|JBTS35|RP83 MIM:604695|HGNC:HGNC:694|Ensembl:ENSG00000138175 10 10q24.32 ADP ribosylation factor like GTPase 3 protein-coding ARL3 ADP ribosylation factor like GTPase 3 O ADP-ribosylation factor-like protein 3|ADP-ribosylation factor-like 3|ARF-like 3 20211003 - 9606 405 ARNT - HIF-1-beta|HIF-1beta|HIF1-beta|HIF1B|HIF1BETA|TANGO|bHLHe2 MIM:126110|HGNC:HGNC:700|Ensembl:ENSG00000143437 1 1q21.3 aryl hydrocarbon receptor nuclear translocator protein-coding ARNT aryl hydrocarbon receptor nuclear translocator O aryl hydrocarbon receptor nuclear translocator|class E basic helix-loop-helix protein 2|dioxin receptor, nuclear translocator|hypoxia-inducible factor 1, beta subunit 20210809 - 9606 406 ARNTL - BMAL1|BMAL1c|JAP3|MOP3|PASD3|TIC|bHLHe5 MIM:602550|HGNC:HGNC:701|Ensembl:ENSG00000133794 11 11p15.3 aryl hydrocarbon receptor nuclear translocator like protein-coding ARNTL aryl hydrocarbon receptor nuclear translocator like O aryl hydrocarbon receptor nuclear translocator-like protein 1|ARNT-like protein 1, brain and muscle|PAS domain containing 3|PAS domain-containing protein 3|bHLH-PAS protein JAP3|basic helix-loop-helix family member e5|basic-helix-loop-helix-PAS orphan MOP3|basic-helix-loop-helix-PAS protein MOP3|brain and muscle ARNT-like 1|class E basic helix-loop-helix protein 5|member of PAS protein 3|member of PAS superfamily 3|testis tissue sperm-binding protein Li 50e 20211026 - 9606 407 ARR3 - ARRX|MYP26|cArr MIM:301770|HGNC:HGNC:710|Ensembl:ENSG00000120500 X Xq13.1 arrestin 3 protein-coding ARR3 arrestin 3 O arrestin-C|C-arrestin|arrestin 3 retinal (X-arrestin)|arrestin 4|retinal cone arrestin-3 20210611 - 9606 408 ARRB1 - ARB1|ARR1 MIM:107940|HGNC:HGNC:711|Ensembl:ENSG00000137486 11 11q13.4 arrestin beta 1 protein-coding ARRB1 arrestin beta 1 O beta-arrestin-1|arrestin 2|non-visual arrestin-2 20211017 - 9606 409 ARRB2 - ARB2|ARR2|BARR2 MIM:107941|HGNC:HGNC:712|Ensembl:ENSG00000141480 17 17p13.2 arrestin beta 2 protein-coding ARRB2 arrestin beta 2 O beta-arrestin-2|arrestin 3|non-visual arrestin-3 20211017 - 9606 410 ARSA - ASA|MLD MIM:607574|HGNC:HGNC:713|Ensembl:ENSG00000100299 22 22q13.33 arylsulfatase A protein-coding ARSA arylsulfatase A O arylsulfatase A|cerebroside-sulfatase|epididymis secretory sperm binding protein 20211017 - 9606 411 ARSB - ASB|G4S|MPS6 MIM:611542|HGNC:HGNC:714|Ensembl:ENSG00000113273 5 5q14.1 arylsulfatase B protein-coding ARSB arylsulfatase B O arylsulfatase B|N-acetylgalactosamine-4-sulfatase 20210708 - 9606 412 STS - ARSC|ARSC1|ASC|ES|SSDD|XLI MIM:300747|HGNC:HGNC:11425|Ensembl:ENSG00000101846 X Xp22.31 steroid sulfatase protein-coding STS steroid sulfatase O steryl-sulfatase|arylsulfatase C|estrone sulfatase|steroid sulfatase (microsomal), isozyme S|steryl-sulfate sulfohydrolase 20211017 - 9606 413 ARSC2 - ARSC MIM:301780|HGNC:HGNC:716 X - arylsulfatase C, isozyme F unknown ARSC2 arylsulfatase C, isozyme F O Arylsulfatase C, f form 20190815 - 9606 414 ARSD - ASD MIM:300002|HGNC:HGNC:717|Ensembl:ENSG00000006756 X Xp22.33 arylsulfatase D protein-coding ARSD arylsulfatase D O arylsulfatase D|testis tissue sperm-binding protein Li 39a 20210726 - 9606 415 ARSL - ARSE|ASE|CDPX|CDPX1|CDPXR MIM:300180|HGNC:HGNC:719|Ensembl:ENSG00000157399 X Xp22.33 arylsulfatase L protein-coding ARSL arylsulfatase L O arylsulfatase L|arylsulfatase E (chondrodysplasia punctata 1) 20210918 - 9606 416 ARSF - ASF MIM:300003|HGNC:HGNC:721|Ensembl:ENSG00000062096 X Xp22.33 arylsulfatase F protein-coding ARSF arylsulfatase F O arylsulfatase F 20210708 - 9606 417 ART1 - ART2|ARTC1|CD296|RT6 MIM:601625|HGNC:HGNC:723|Ensembl:ENSG00000129744 11 11p15.4 ADP-ribosyltransferase 1 protein-coding ART1 ADP-ribosyltransferase 1 O GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1|ADP-ribosyltransferase 2|ADP-ribosyltransferase C2 and C3 toxin-like 1|mono(ADP-ribosyl)transferase 1 20210708 - 9606 418 ART2P - ART1P|RT6 HGNC:HGNC:724 11 11q13.4 ADP-ribosyltransferase 2, pseudogene pseudo ART2P ADP-ribosyltransferase 2, pseudogene O ADP-ribosyltransferase 2 (RT6 antigen homolog, rat), pseudogene|ADP-ribosyltransferase 2 pseudogene (RT6 antigen homolog, rat)|RT6 antigen homolog 20210611 - 9606 419 ART3 - ARTC3 MIM:603086|HGNC:HGNC:725|Ensembl:ENSG00000156219 4 4q21.1|4p15.1-p14 ADP-ribosyltransferase 3 (inactive) protein-coding ART3 ADP-ribosyltransferase 3 (inactive) O ecto-ADP-ribosyltransferase 3|ADP-ribosyltransferase C2 and C3 toxin-like 3|NAD(P)(+)--arginine ADP-ribosyltransferase 3|mono(ADP-ribosyl)transferase 3|mono-ADP-ribosyltransferase 20210611 - 9606 420 ART4 - ARTC4|CD297|DO|DO/ART4|DOK1 MIM:110600|HGNC:HGNC:726|Ensembl:ENSG00000111339 12 12p12.3 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) protein-coding ART4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) O ecto-ADP-ribosyltransferase 4|ADP-ribosyltransferase 4 (DO blood group)|ADP-ribosyltransferase 4 (Dombrock blood group)|ADP-ribosyltransferase C2 and C3 toxin-like 4|Do glycoprotein|Dombrock blood group carrier molecule|Dombrock glycoprotein|NAD(+)--protein-arginine ADP-ribosyltransferase 4|NAD(P)(+)--arginine ADP-ribosyltransferase 4|mono-ADP-ribosyltransferase 4|truncated Dombrock blood group protein 20211026 - 9606 421 ARVCF - - MIM:602269|HGNC:HGNC:728|Ensembl:ENSG00000099889 22 22q11.21 ARVCF delta catenin family member protein-coding ARVCF ARVCF delta catenin family member O armadillo repeat protein deleted in velo-cardio-facial syndrome|armadillo repeat gene deleted in velocardiofacial syndrome 20210708 - 9606 424 ARVD3 - ARVD2 MIM:602086 14 14q12-q22 arrhythmogenic right ventricular dysplasia 3 unknown - - - - 20191002 - 9606 425 ARVD4 - - MIM:602087 2 2q32.1-q32.3 arrhythmogenic right ventricular dysplasia 4 unknown - - - - 20191002 - 9606 427 ASAH1 - AC|ACDase|ASAH|PHP|PHP32|SMAPME MIM:613468|HGNC:HGNC:735|Ensembl:ENSG00000104763 8 8p22 N-acylsphingosine amidohydrolase 1 protein-coding ASAH1 N-acylsphingosine amidohydrolase 1 O acid ceramidase|N-acylethanolamine hydrolase ASAH1|N-acylsphingosine amidohydrolase (acid ceramidase) 1|acid CDase|acylsphingosine deacylase|putative 32 kDa heart protein 20211030 - 9606 429 ASCL1 - ASH1|HASH1|MASH1|bHLHa46 MIM:100790|HGNC:HGNC:738|Ensembl:ENSG00000139352 12 12q23.2 achaete-scute family bHLH transcription factor 1 protein-coding ASCL1 achaete-scute family bHLH transcription factor 1 O achaete-scute homolog 1|ASH-1|achaete scute protein|achaete-scute complex homolog 1|achaete-scute complex-like 1|class A basic helix-loop-helix protein 46 20211003 - 9606 430 ASCL2 - ASH2|HASH2|MASH2|bHLHa45 MIM:601886|HGNC:HGNC:739|Ensembl:ENSG00000183734 11 11p15.5 achaete-scute family bHLH transcription factor 2 protein-coding ASCL2 achaete-scute family bHLH transcription factor 2 O achaete-scute homolog 2|achaete-scute complex homolog 2|achaete-scute complex-like 2|class A basic helix-loop-helix protein 45|mammalian achaete/scute homologue 2 20211017 - 9606 431 ASD1 - - MIM:108800 5 5p15.31 atrial septal defect 1 unknown - - - - 20191002 - 9606 432 ASGR1 - ASGPR|ASGPR1|CLEC4H1|HL-1 MIM:108360|HGNC:HGNC:742|Ensembl:ENSG00000141505 17 17p13.1 asialoglycoprotein receptor 1 protein-coding ASGR1 asialoglycoprotein receptor 1 O asialoglycoprotein receptor 1|C-type lectin domain family 4 member H1|hepatic lectin H1 20211029 - 9606 433 ASGR2 - ASGP-R2|ASGPR2|CLEC4H2|HBXBP|HL-2 MIM:108361|HGNC:HGNC:743|Ensembl:ENSG00000161944 17 17p13.1 asialoglycoprotein receptor 2 protein-coding ASGR2 asialoglycoprotein receptor 2 O asialoglycoprotein receptor 2|C-type lectin domain family 4 member H2|HBxAg-binding protein|hepatic lectin H2 20211029 - 9606 434 ASIP - AGSW|AGTI|AGTIL|ASP|SHEP9 MIM:600201|HGNC:HGNC:745|Ensembl:ENSG00000101440 20 20q11.22 agouti signaling protein protein-coding ASIP agouti signaling protein O agouti-signaling protein|agouti signaling protein, nonagouti homolog|agouti switch protein|nonagouti homolog 20210611 - 9606 435 ASL - ASAL MIM:608310|HGNC:HGNC:746|Ensembl:ENSG00000126522 7 7q11.21 argininosuccinate lyase protein-coding ASL argininosuccinate lyase O argininosuccinate lyase|argininosuccinase|arginosuccinase 20210912 - 9606 436 ASLP1 - ASLL HGNC:HGNC:747 22 22q11.23 argininosuccinate lyase pseudogene 1 pseudo ASLP1 argininosuccinate lyase pseudogene 1 O - 20210611 - 9606 438 ASMT - ASMTY|HIOMT|HIOMTY MIM:300015|MIM:402500|HGNC:HGNC:750|Ensembl:ENSG00000196433 X|Y X;Y acetylserotonin O-methyltransferase protein-coding ASMT acetylserotonin O-methyltransferase O acetylserotonin O-methyltransferase|acetylserotonin N-methyltransferase|acetylserotonin methyltransferase (Y chromosome)|hydroxyindole O-methyltransferase 20210919 - 9606 439 GET3 - ARSA-I|ARSA1|ASNA-I|ASNA1|TRC40 MIM:601913|HGNC:HGNC:752|Ensembl:ENSG00000198356 19 19p13.13 guided entry of tail-anchored proteins factor 3, ATPase protein-coding GET3 guided entry of tail-anchored proteins factor 3, ATPase O ATPase GET3|arsA arsenite transporter, ATP-binding, homolog 1|golgi to ER traffic 3 homolog|transmembrane domain recognition complex 40 kDa ATPase subunit 20210704 - 9606 440 ASNS - ASNSD|TS11 MIM:108370|HGNC:HGNC:753|Ensembl:ENSG00000070669 7 7q21.3 asparagine synthetase (glutamine-hydrolyzing) protein-coding ASNS asparagine synthetase (glutamine-hydrolyzing) O asparagine synthetase [glutamine-hydrolyzing]|TS11 cell cycle control protein|glutamine-dependent asparagine synthetase 20210724 - 9606 442 ASNSP2 - ASNSL2 HGNC:HGNC:755 21 21p11.2 ASNS pseudogene 2 pseudo ASNSP2 ASNS pseudogene 2 O asparagine synthetase pseudogene 2|asparagine synthetase-like 2 20210612 - 9606 443 ASPA - ACY2|ASP MIM:608034|HGNC:HGNC:756|Ensembl:ENSG00000108381 17 17p13.2 aspartoacylase protein-coding ASPA aspartoacylase O aspartoacylase|ACY-2|aminoacylase 2 20210906 - 9606 444 ASPH - AAH|BAH|CASQ2BP1|FDLAB|HAAH|JCTN|junctin MIM:600582|HGNC:HGNC:757|Ensembl:ENSG00000198363 8 8q12.3 aspartate beta-hydroxylase protein-coding ASPH aspartate beta-hydroxylase O aspartyl/asparaginyl beta-hydroxylase|A beta H-J-J|ASP beta-hydroxylase|cardiac junctin|humbug|junctate|peptide-aspartate beta-dioxygenase 20210906 - 9606 445 ASS1 - ASS|CTLN1 MIM:603470|HGNC:HGNC:758|Ensembl:ENSG00000130707 9 9q34.11 argininosuccinate synthase 1 protein-coding ASS1 argininosuccinate synthase 1 O argininosuccinate synthase|argininosuccinate synthetase 1|citrulline-aspartate ligase|epididymis secretory sperm binding protein 20211031 - 9606 447 ASS1P2 - ASSP2 HGNC:HGNC:765|Ensembl:ENSG00000223922 2 2p22.1 argininosuccinate synthetase 1 pseudogene 2 pseudo ASS1P2 argininosuccinate synthetase 1 pseudogene 2 O argininosuccinate synthetase pseudogene 2 20210611 - 9606 449 ASS1P4 - ASSP4 HGNC:HGNC:767|Ensembl:ENSG00000213487 X Xp22.33 argininosuccinate synthetase 1 pseudogene 4 pseudo ASS1P4 argininosuccinate synthetase 1 pseudogene 4 O argininosuccinate synthetase pseudogene 4 20210611 - 9606 450 ASS1P5 - ASSP5 HGNC:HGNC:768|Ensembl:ENSG00000227881 X Xq23 argininosuccinate synthetase 1 pseudogene 5 pseudo ASS1P5 argininosuccinate synthetase 1 pseudogene 5 O argininosuccinate synthetase pseudogene 5 20210611 - 9606 451 ASS1P6 - ASSP6 HGNC:HGNC:769|Ensembl:ENSG00000215583 Y Yq11.21 argininosuccinate synthetase 1 pseudogene 6 pseudo ASS1P6 argininosuccinate synthetase 1 pseudogene 6 O argininosuccinate synthetase pseudogene 6 20210611 - 9606 453 ASS1P8 - ASSP8 HGNC:HGNC:771 4 4q31.23 argininosuccinate synthetase 1 pseudogene 8 pseudo ASS1P8 argininosuccinate synthetase 1 pseudogene 8 O argininosuccinate synthetase pseudogene 8 20210611 - 9606 454 ASS1P9 - ASSP9 HGNC:HGNC:772|Ensembl:ENSG00000217791 5 5q11.2 argininosuccinate synthetase 1 pseudogene 9 pseudo ASS1P9 argininosuccinate synthetase 1 pseudogene 9 O argininosuccinate synthetase pseudogene 9 20210611 - 9606 455 ASS1P10 - ASSP10 HGNC:HGNC:760|Ensembl:ENSG00000215325 5 5q32 argininosuccinate synthetase 1 pseudogene 10 pseudo ASS1P10 argininosuccinate synthetase 1 pseudogene 10 O argininosuccinate synthetase pseudogene 10 20210611 - 9606 459 ASS1P14 - ASSP14 HGNC:HGNC:764|Ensembl:ENSG00000257316 12 12p11.21 argininosuccinate synthetase 1 pseudogene 14 pseudo ASS1P14 argininosuccinate synthetase 1 pseudogene 14 O argininosuccinate synthetase pseudogene 14 20210611 - 9606 460 ASTN1 - ASTN MIM:600904|HGNC:HGNC:773|Ensembl:ENSG00000152092 1 1q25.2 astrotactin 1 protein-coding ASTN1 astrotactin 1 O astrotactin-1 20210711 - 9606 462 SERPINC1 - AT3|AT3D|ATIII|ATIII-R2|ATIII-T1|ATIII-T2|THPH7 MIM:107300|HGNC:HGNC:775|Ensembl:ENSG00000117601 1 1q25.1 serpin family C member 1 protein-coding SERPINC1 serpin family C member 1 O antithrombin-III|serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1|serpin peptidase inhibitor clade C member 1|serpin peptidase inhibitor, clade C (antithrombin), member 1 20211026 - 9606 463 ZFHX3 - ATBF1|ATBT|C16orf47|ZFH-3|ZNF927 MIM:104155|HGNC:HGNC:777|Ensembl:ENSG00000140836 16 16q22.2-q22.3 zinc finger homeobox 3 protein-coding ZFHX3 zinc finger homeobox 3 O zinc finger homeobox protein 3|AT motif-binding factor 1|AT-binding transcription factor 1|alpha-fetoprotein enhancer binding protein|zinc finger homeodomain protein 3 20210906 - 9606 465 ATD - ATD1 MIM:208500 15 15q13 asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) unknown - - - - 20191002 - 9606 466 ATF1 - EWS-ATF1|FUS/ATF-1|TREB36 MIM:123803|HGNC:HGNC:783|Ensembl:ENSG00000123268 12 12q13.12 activating transcription factor 1 protein-coding ATF1 activating transcription factor 1 O cyclic AMP-dependent transcription factor ATF-1|cAMP-dependent transcription factor ATF-1 20211026 - 9606 467 ATF3 - - MIM:603148|HGNC:HGNC:785|Ensembl:ENSG00000162772 1 1q32.3 activating transcription factor 3 protein-coding ATF3 activating transcription factor 3 O cyclic AMP-dependent transcription factor ATF-3|cAMP-dependent transcription factor ATF-3 20211026 - 9606 468 ATF4 - CREB-2|CREB2|TAXREB67|TXREB MIM:604064|HGNC:HGNC:786|Ensembl:ENSG00000128272 22 22q13.1 activating transcription factor 4 protein-coding ATF4 activating transcription factor 4 O cyclic AMP-dependent transcription factor ATF-4|DNA-binding protein TAXREB67|cAMP response element-binding protein 2|cAMP-dependent transcription factor ATF-4|cAMP-responsive element-binding protein 2|cyclic AMP-responsive element-binding protein 2|tax-responsive enhancer element B67|tax-responsive enhancer element-binding protein 67 20211026 - 9606 469 ATF4P1 - ATF4P|TAXREB67P|TXREBP HGNC:HGNC:789 X Xq28 activating transcription factor 4 pseudogene 1 pseudo ATF4P1 activating transcription factor 4 pseudogene 1 O activating transcription factor 4 (tax-responsive enhancer element B67) pseudogene|activating transcription factor 4 pseudogene (tax-responsive enhancer element B67 pseudogene)|cyclic-AMP-dependent transcription factor ATF-4 pseudogene 20210611 - 9606 470 ATHS - ALP MIM:108725 19 19p13.3-p13.2 atherosclerosis susceptibility (lipoprotein associated) unknown - - - - 20191002 - 9606 471 ATIC - AICAR|AICARFT|HEL-S-70p|IMPCHASE|PURH MIM:601731|HGNC:HGNC:794|Ensembl:ENSG00000138363 2 2q35 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase protein-coding ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase O bifunctional purine biosynthesis protein ATIC|5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase|AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme|AICAR transformylase/inosine monophosphate cyclohydrolase|AICARFT/IMPCHASE|bifunctional purine biosynthesis protein PURH|epididymis secretory sperm binding protein Li 70p|phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase 20211017 - 9606 472 ATM - AT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1 MIM:607585|HGNC:HGNC:795|Ensembl:ENSG00000149311 11 11q22.3 ATM serine/threonine kinase protein-coding ATM ATM serine/threonine kinase O serine-protein kinase ATM|A-T mutated|AT mutated|TEL1, telomere maintenance 1, homolog|ataxia telangiectasia mutated 20211028 - 9606 473 RERE - ARG|ARP|ATN1L|DNB1|NEDBEH MIM:605226|HGNC:HGNC:9965|Ensembl:ENSG00000142599 1 1p36.23 arginine-glutamic acid dipeptide repeats protein-coding RERE arginine-glutamic acid dipeptide repeats O arginine-glutamic acid dipeptide repeats protein|arginine-glutamic acid dipeptide (RE) repeats|atrophin 2|atrophin-1 like protein|atrophin-1 related protein 20210622 - 9606 474 ATOH1 - ATH1|HATH1|MATH-1|bHLHa14 MIM:601461|HGNC:HGNC:797|Ensembl:ENSG00000172238 4 4q22.2 atonal bHLH transcription factor 1 protein-coding ATOH1 atonal bHLH transcription factor 1 O protein atonal homolog 1|atonal homolog 1|atonal homolog bHLH transcription factor 1|basic helix-loop-helix family member a14|class A basic helix-loop-helix protein 14|helix-loop-helix protein hATH-1 20211030 - 9606 475 ATOX1 - ATX1|HAH1 MIM:602270|HGNC:HGNC:798|Ensembl:ENSG00000177556 5 5q33.1 antioxidant 1 copper chaperone protein-coding ATOX1 antioxidant 1 copper chaperone O copper transport protein ATOX1|ATX1 antioxidant protein 1 homolog|metal transport protein ATX1 20210905 - 9606 476 ATP1A1 - CMT2DD|HOMGSMR2 MIM:182310|HGNC:HGNC:799|Ensembl:ENSG00000163399 1 1p13.1 ATPase Na+/K+ transporting subunit alpha 1 protein-coding ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 O sodium/potassium-transporting ATPase subunit alpha-1|ATPase, Na+/K+ transporting, alpha 1 polypeptide|Na(+)/K(+) ATPase alpha-1 subunit|Na+/K+ ATPase 1|Na, K-ATPase, alpha-A catalytic polypeptide|Na,K-ATPase alpha-1 subunit|Na,K-ATPase catalytic subunit alpha-A protein|sodium pump subunit alpha-1|sodium-potassium ATPase catalytic subunit alpha-1|sodium-potassium-ATPase, alpha 1 polypeptide 20211031 - 9606 477 ATP1A2 - FHM2|MHP2 MIM:182340|HGNC:HGNC:800|Ensembl:ENSG00000018625 1 1q23.2 ATPase Na+/K+ transporting subunit alpha 2 protein-coding ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 O sodium/potassium-transporting ATPase subunit alpha-2|ATPase Na+/K+ transporting alpha 2 polypeptide|Na(+)/K(+) ATPase alpha-2 subunit|Na+/K+ ATPase, alpha-A(+) catalytic polypeptide|Na+/K+ ATPase, alpha-B polypeptide|sodium pump subunit alpha-2|sodium-potassium ATPase catalytic subunit alpha-2|sodium/potassium-transporting ATPase alpha-2 chain 20211031 - 9606 478 ATP1A3 - AHC2|ATP1A1|CAPOS|DYT12|RDP MIM:182350|HGNC:HGNC:801|Ensembl:ENSG00000105409 19 19q13.2 ATPase Na+/K+ transporting subunit alpha 3 protein-coding ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 O sodium/potassium-transporting ATPase subunit alpha-3|ATPase, Na+/K+ transporting, alpha 3 polypeptide|Na(+)/K(+) ATPase alpha(III) subunit|Na(+)/K(+) ATPase alpha-3 subunit|Na+, K+ activated adenosine triphosphatase alpha subunit|Na+/K+ ATPase 3|sodium pump subunit alpha-3|sodium-potassium ATPase catalytic subunit alpha-3|sodium-potassium-ATPase, alpha 3 polypeptide|sodium/potassium-transporting ATPase alpha-3 chain 20210926 - 9606 479 ATP12A - ATP1AL1|H-K-ATPase|HK MIM:182360|HGNC:HGNC:13816|Ensembl:ENSG00000075673 13 13q12.12|13q12.1-q12.3 ATPase H+/K+ transporting non-gastric alpha2 subunit protein-coding ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit O potassium-transporting ATPase alpha chain 2|ATPase, H+/K+ transporting, nongastric, alpha polypeptide|ATPase, Na+/K+ transporting, alpha polypeptide-like 1|HK alpha 2|non-gastric Na(+)/K(+) ATPase subunit alpha|sodium pump 20210708 - 9606 480 ATP1A4 - ATP1A1|ATP1AL2 MIM:607321|HGNC:HGNC:14073|Ensembl:ENSG00000132681 1 1q23.2 ATPase Na+/K+ transporting subunit alpha 4 protein-coding ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 O sodium/potassium-transporting ATPase subunit alpha-4|ATPase, Na+/K+ transporting, alpha 4 polypeptide|ATPase, Na+/K+ transporting, alpha polypeptide-like 2|Na(+)/K(+) ATPase alpha-4 subunit|Na+/K+ ATPase 4|Na+/K+ ATPase, alpha-D polypeptide|Na,K-ATPase subunit alpha-C|sodium pump 4|sodium pump subunit alpha-4|sodium-potassium ATPase catalytic subunit alpha-4|sodium/potassium-transporting ATPase alpha-4 chain 20210918 - 9606 481 ATP1B1 - ATP1B MIM:182330|HGNC:HGNC:804|Ensembl:ENSG00000143153 1 1q24.2 ATPase Na+/K+ transporting subunit beta 1 protein-coding ATP1B1 ATPase Na+/K+ transporting subunit beta 1 O sodium/potassium-transporting ATPase subunit beta-1|ATPase, Na+/K+ transporting, beta 1 polypeptide|Beta 1-subunit of Na(+),K(+)-ATPase|Na, K-ATPase beta-1 polypeptide|adenosinetriphosphatase|sodium pump subunit beta-1|sodium-potassium ATPase subunit beta 1 (non-catalytic)|sodium/potassium-dependent ATPase beta-1 subunit|sodium/potassium-transporting ATPase beta-1 chain 20211017 - 9606 482 ATP1B2 - AMOG MIM:182331|HGNC:HGNC:805|Ensembl:ENSG00000129244 17 17p13.1 ATPase Na+/K+ transporting subunit beta 2 protein-coding ATP1B2 ATPase Na+/K+ transporting subunit beta 2 O sodium/potassium-transporting ATPase subunit beta-2|ATPase, Na+/K+ transporting, beta 2 polypeptide|Na, K-ATPase beta-2 polypeptide|adhesion molecule in glia|adhesion molecule on glia|sodium pump subunit beta-2|sodium-potassium ATPase subunit beta 2 (non-catalytic)|sodium/potassium-dependent ATPase beta-2 subunit|sodium/potassium-dependent ATPase subunit beta-2|sodium/potassium-transporting ATPase beta-2 chain 20210708 - 9606 483 ATP1B3 - ATPB-3|CD298 MIM:601867|HGNC:HGNC:806|Ensembl:ENSG00000069849 3 3q23 ATPase Na+/K+ transporting subunit beta 3 protein-coding ATP1B3 ATPase Na+/K+ transporting subunit beta 3 O sodium/potassium-transporting ATPase subunit beta-3|ATPase, Na+/K+ transporting, beta 3 polypeptide|Na, K-ATPase beta-3 polypeptide|sodium pump subunit beta-3|sodium-potassium ATPase subunit beta 3 (non-catalytic)|sodium/potassium-dependent ATPase subunit beta-3|sodium/potassium-transporting ATPase beta-3 chain 20211031 - 9606 484 ATP1B3P1 - - HGNC:HGNC:807 2 2p16.1 ATPase Na+/K+ transporting subunit beta 3 pseudogene 1 pseudo ATP1B3P1 ATPase Na+/K+ transporting subunit beta 3 pseudogene 1 O ATPase, Na+/K+ transporting, beta 3 polypeptide pseudogene|ATPase, Na+/K+ transporting, beta 3 pseudogene 1 20210611 - 9606 485 ATP1B1P1 - ATP1BL1 HGNC:HGNC:809 4 4p13 ATPase Na+/K+ transporting subunit beta 1 pseudogene 1 pseudo ATP1B1P1 ATPase Na+/K+ transporting subunit beta 1 pseudogene 1 O ATPase, Na+/K+ transporting, beta 1 polypeptide pseudogene 1|ATPase, Na+/K+ transporting, beta polypeptide-like 1 20210611 - 9606 486 FXYD2 - ATP1G1|HOMG2 MIM:601814|HGNC:HGNC:4026|Ensembl:ENSG00000137731 11 11q23.3 FXYD domain containing ion transport regulator 2 protein-coding FXYD2 FXYD domain containing ion transport regulator 2 O sodium/potassium-transporting ATPase subunit gamma|ATPase, Na+/K+ transporting, gamma 1 polypeptide|Na(+)/K(+) ATPase subunit gamma|sodium pump gamma chain 20210708 - 9606 487 ATP2A1 - ATP2A|SERCA1 MIM:108730|HGNC:HGNC:811|Ensembl:ENSG00000196296 16 16p11.2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 protein-coding ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 O sarcoplasmic/endoplasmic reticulum calcium ATPase 1|ATPase, Ca++ transporting, cardiac muscle, fast twitch 1|SR Ca(2+)-ATPase 1|calcium pump 1|endoplasmic reticulum class 1/2 Ca(2+) ATPase 20210905 - 9606 488 ATP2A2 - ATP2B|DAR|DD|SERCA2 MIM:108740|HGNC:HGNC:812|Ensembl:ENSG00000174437 12 12q24.11 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 protein-coding ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 O sarcoplasmic/endoplasmic reticulum calcium ATPase 2|ATPase Ca++ transporting cardiac muscle slow twitch 2|ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2|SR Ca(2+)-ATPase 2|calcium pump 2|cardiac Ca2+ ATPase|endoplasmic reticulum class 1/2 Ca(2+) ATPase 20211031 - 9606 489 ATP2A3 - SERCA3 MIM:601929|HGNC:HGNC:813|Ensembl:ENSG00000074370 17 17p13.2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 protein-coding ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 O sarcoplasmic/endoplasmic reticulum calcium ATPase 3|ATPase, Ca(2+)-transporting, ubiquitous|ATPase, Ca++ transporting, ubiquitous|SR Ca(2+)-ATPase 3|adenosine triphosphatase, calcium|calcium pump 3|calcium-translocating P-type ATPase|sarco/endoplasmic reticulum Ca2+ -ATPase 20210905 - 9606 490 ATP2B1 - PMCA1|PMCA1kb MIM:108731|HGNC:HGNC:814|Ensembl:ENSG00000070961 12 12q21.33 ATPase plasma membrane Ca2+ transporting 1 protein-coding ATP2B1 ATPase plasma membrane Ca2+ transporting 1 O plasma membrane calcium-transporting ATPase 1|ATPase, Ca++ transporting, plasma membrane 1|plasma membrane calcium pump 20210905 - 9606 491 ATP2B2 - PMCA2|PMCA2a|PMCA2i MIM:108733|HGNC:HGNC:815|Ensembl:ENSG00000157087 3 3p25.3 ATPase plasma membrane Ca2+ transporting 2 protein-coding ATP2B2 ATPase plasma membrane Ca2+ transporting 2 O plasma membrane calcium-transporting ATPase 2|ATPase, Ca++ transporting, plasma membrane 2|plasma membrane Ca(2+)-ATPase|plasma membrane Ca2+ pump 2|plasma membrane calcium ATPase|plasma membrane calcium pump 20211009 - 9606 492 ATP2B3 - CFAP39|CLA2|OPCA|PMCA3|PMCA3a|SCAX1 MIM:300014|HGNC:HGNC:816|Ensembl:ENSG00000067842 X Xq28 ATPase plasma membrane Ca2+ transporting 3 protein-coding ATP2B3 ATPase plasma membrane Ca2+ transporting 3 O plasma membrane calcium-transporting ATPase 3|ATPase, Ca++ transporting, plasma membrane 3|cilia and flagella associated protein 39|plasma membrane calcium ATPase|plasma membrane calcium pump 20210708 - 9606 493 ATP2B4 - ATP2B2|MXRA1|PMCA4|PMCA4b|PMCA4x MIM:108732|HGNC:HGNC:817|Ensembl:ENSG00000058668 1 1q32.1 ATPase plasma membrane Ca2+ transporting 4 protein-coding ATP2B4 ATPase plasma membrane Ca2+ transporting 4 O plasma membrane calcium-transporting ATPase 4|ATPase, Ca++ transporting, plasma membrane 4|matrix-remodeling-associated protein 1|sarcolemmal calcium pump 20211031 - 9606 495 ATP4A - ATP6A MIM:137216|HGNC:HGNC:819|Ensembl:ENSG00000105675 19 19q13.12 ATPase H+/K+ transporting subunit alpha protein-coding ATP4A ATPase H+/K+ transporting subunit alpha O potassium-transporting ATPase alpha chain 1|ATPase H+/K+ transporting alpha subunit|ATPase, H+/K+ exchanging, alpha polypeptide|ATPase, H+/K+ transporting, alpha polypeptide|epididymis secretory sperm binding protein|gastric H+/K+ ATPase alpha subunit|gastric H,K-ATPase catalytic subunit|gastric hydrogen-potassium ATPase|proton pump 20210919 - 9606 496 ATP4B - ATP6B MIM:137217|HGNC:HGNC:820|Ensembl:ENSG00000186009 13 13q34 ATPase H+/K+ transporting subunit beta protein-coding ATP4B ATPase H+/K+ transporting subunit beta O potassium-transporting ATPase subunit beta|ATPase H+/K+ transporting beta subunit|ATPase, H+/K+ exchanging, beta polypeptide|ATPase, H+/K+ transporting, beta polypeptide|gastric H(+)/K(+) ATPase subunit beta|gastric H+/K+ ATPase beta subunit|gastric hydrogen-potassium ATPase, beta|potassium-transporting ATPase beta chain|proton pump beta chain 20210708 - 9606 498 ATP5F1A - ATP5A|ATP5A1|ATP5AL2|ATPM|COXPD22|HEL-S-123m|MC5DN4|MOM2|OMR|ORM|hATP1 MIM:164360|HGNC:HGNC:823|Ensembl:ENSG00000152234 18 18q21.1 ATP synthase F1 subunit alpha protein-coding ATP5F1A ATP synthase F1 subunit alpha O ATP synthase subunit alpha, mitochondrial|ATP synthase alpha chain, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle|ATP sythase (F1-ATPase) alpha subunit|epididymis secretory sperm binding protein Li 123m|mitochondrial ATP synthetase, oligomycin-resistant 20210906 - 9606 501 ALDH7A1 - ATQ1|EPD|PDE MIM:107323|HGNC:HGNC:877|Ensembl:ENSG00000164904 5 5q23.2 aldehyde dehydrogenase 7 family member A1 protein-coding ALDH7A1 aldehyde dehydrogenase 7 family member A1 O alpha-aminoadipic semialdehyde dehydrogenase|26g turgor protein homolog|P6c dehydrogenase|alpha-AASA dehydrogenase|antiquitin-1|betaine aldehyde dehydrogenase|delta1-piperideine-6-carboxylate dehydrogenase|epididymis secretory sperm binding protein 20210906 - 9606 504 ATP5F1AP2 - ATP5A1P2|ATP5AP2 HGNC:HGNC:828|Ensembl:ENSG00000227682 2 2q24.1 ATP synthase F1 subunit alpha pseudogene 2 pseudo ATP5F1AP2 ATP synthase F1 subunit alpha pseudogene 2 O ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 2 20210611 - 9606 506 ATP5F1B - ATP5B|ATPMB|ATPSB|HEL-S-271 MIM:102910|HGNC:HGNC:830|Ensembl:ENSG00000110955 12 12q13.3 ATP synthase F1 subunit beta protein-coding ATP5F1B ATP synthase F1 subunit beta O ATP synthase subunit beta, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide|epididymis secretory protein Li 271|mitochondrial ATP synthase beta subunit|mitochondrial ATP synthetase, beta subunit 20210905 - 9606 507 ATP5F1BP1 - ATP5BL1|ATP5BP1|ATPMBL1|ATPSBL1 HGNC:HGNC:831|Ensembl:ENSG00000231635 2 2q11.2 ATP synthase F1 subunit beta pseudogene 1 pseudo ATP5F1BP1 ATP synthase F1 subunit beta pseudogene 1 O ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide pseudogene 1|ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 1 20210611 - 9606 509 ATP5F1C - ATP5C|ATP5C1|ATP5CL1 MIM:108729|HGNC:HGNC:833|Ensembl:ENSG00000165629 10 10p14 ATP synthase F1 subunit gamma protein-coding ATP5F1C ATP synthase F1 subunit gamma O ATP synthase subunit gamma, mitochondrial|ATP synthase gamma chain, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1|F-ATPase gamma subunit|mitochondrial ATP synthase, gamma subunit 1 20210905 - 9606 513 ATP5F1D - ATP5D|MC5DN5 MIM:603150|HGNC:HGNC:837|Ensembl:ENSG00000099624 19 19p13.3 ATP synthase F1 subunit delta protein-coding ATP5F1D ATP synthase F1 subunit delta O ATP synthase subunit delta, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit|F-ATPase delta subunit|mitochondrial ATP synthase complex delta-subunit precusor|mitochondrial ATP synthase, delta subunit 20210905 - 9606 514 ATP5F1E - ATP5E|ATPE|MC5DN3 MIM:606153|HGNC:HGNC:838|Ensembl:ENSG00000124172 20 20q13.32 ATP synthase F1 subunit epsilon protein-coding ATP5F1E ATP synthase F1 subunit epsilon O ATP synthase subunit epsilon, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit|F(0)F(1)-ATPase|H(+)-transporting two-sector ATPase|mitochondrial ATP synthase epsilon chain|mitochondrial ATPase 20210708 - 9606 515 ATP5PB - ATP5F1|PIG47 MIM:603270|HGNC:HGNC:840|Ensembl:ENSG00000116459 1 1p13.2 ATP synthase peripheral stalk-membrane subunit b protein-coding ATP5PB ATP synthase peripheral stalk-membrane subunit b O ATP synthase F(0) complex subunit B1, mitochondrial|ATP synthase B chain, mitochondrial|ATP synthase proton-transporting mitochondrial F(0) complex subunit B1|ATP synthase subunit b, mitochondrial|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b|ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1|ATPase subunit b|H+-ATP synthase subunit b|cell proliferation-inducing protein 47 20210716 - 9606 516 ATP5MC1 - ATP5A|ATP5G|ATP5G1 MIM:603192|HGNC:HGNC:841|Ensembl:ENSG00000159199 17 17q21.32 ATP synthase membrane subunit c locus 1 protein-coding ATP5MC1 ATP synthase membrane subunit c locus 1 O ATP synthase F(0) complex subunit C1, mitochondrial|ATP synthase lipid-binding protein, mitochondrial|ATP synthase proteolipid P1|ATP synthase proton-transporting mitochondrial F(0) complex subunit C1|ATP synthase subunit 9|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9)|ATPase protein 9|ATPase subunit 9|ATPase subunit C|dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit|mitochondrial ATP synthase, subunit 9|mitochondrial ATP synthase, subunit C 20210708 - 9606 517 ATP5MC2 - ATP5A|ATP5G2 MIM:603193|HGNC:HGNC:842|Ensembl:ENSG00000135390 12 12q13.13 ATP synthase membrane subunit c locus 2 protein-coding ATP5MC2 ATP synthase membrane subunit c locus 2 O ATP synthase F(0) complex subunit C2, mitochondrial|ATP synthase c subunit|ATP synthase lipid-binding protein, mitochondrial|ATP synthase proteolipid P2|ATP synthase proton-transporting mitochondrial F(0) complex subunit C2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9)|ATPase protein 9|ATPase subunit C|dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit 20210708 - 9606 518 ATP5MC3 - ATP5G3|P3 MIM:602736|HGNC:HGNC:843|Ensembl:ENSG00000154518 2 2q31.1 ATP synthase membrane subunit c locus 3 protein-coding ATP5MC3 ATP synthase membrane subunit c locus 3 O ATP synthase F(0) complex subunit C3, mitochondrial|ATP synthase lipid-binding protein, mitochondrial|ATP synthase proteolipid P3|ATP synthase proton-transporting mitochondrial F(0) complex subunit C3|ATP synthase subunit 9|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)|ATP synthase, mitochondrial, C subunit-3|ATPase protein 9|ATPase subunit C|dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit 20210716 - 9606 520 ATP5MC2P1 - ATP5G2P1|ATP5GP1 HGNC:HGNC:844 1 1q32.2 ATP synthase membrane subunit c locus 2 pseudogene 1 pseudo ATP5MC2P1 ATP synthase membrane subunit c locus 2 pseudogene 1 O ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) pseudogene 1|pseudogene 1 for mitochondrial ATP synthase c subunit (P2 form) 20210611 - 9606 521 ATP5ME - ATP5I|ATP5K MIM:601519|HGNC:HGNC:846|Ensembl:ENSG00000169020 4 4p16.3 ATP synthase membrane subunit e protein-coding ATP5ME ATP synthase membrane subunit e O ATP synthase subunit e, mitochondrial|ATP synthase e chain, mitochondrial|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E|ATP synthase, H+ transporting, mitochondrial Fo complex subunit E|ATPase subunit e|F1F0-ATP synthase, murine e subunit 20210708 - 9606 522 ATP5PF - ATP5|ATP5A|ATP5J|ATPM|CF6|F6 MIM:603152|HGNC:HGNC:847|Ensembl:ENSG00000154723 21 21q21.3 ATP synthase peripheral stalk subunit F6 protein-coding ATP5PF ATP synthase peripheral stalk subunit F6 O ATP synthase-coupling factor 6, mitochondrial|ATP synthase subunit h|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6|ATPase subunit F6|coupling factor 6|mitochondrial ATP synthase, coupling factor 6|mitochondrial ATP synthase, subunit F6|mitochondrial ATPase coupling factor 6|proliferation-inducing protein 36 20210708 - 9606 523 ATP6V1A - ARCL2D|ATP6A1|ATP6V1A1|DEE93|HO68|IECEE3|VA68|VPP2|Vma1 MIM:607027|HGNC:HGNC:851|Ensembl:ENSG00000114573 3 3q13.31 ATPase H+ transporting V1 subunit A protein-coding ATP6V1A ATPase H+ transporting V1 subunit A O V-type proton ATPase catalytic subunit A|ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A|ATPase, H+ transporting, lysosomal, subunit A1|H(+)-transporting two-sector ATPase, subunit A|H+-transporting ATPase chain A, vacuolar (VA68 type)|V-ATPase 69 kDa subunit 1|V-ATPase A subunit 1|V-ATPase subunit A|V-type proton ATPase (V-ATPase) catalytic subunit A|vacuolar proton pump alpha subunit 1|vacuolar proton pump subunit alpha 20210808 - 9606 525 ATP6V1B1 - ATP6B1|DRTA2|RTA1B|VATB|VMA2|VPP3 MIM:192132|HGNC:HGNC:853|Ensembl:ENSG00000116039 2 2p13.3 ATPase H+ transporting V1 subunit B1 protein-coding ATP6V1B1 ATPase H+ transporting V1 subunit B1 O V-type proton ATPase subunit B, kidney isoform|ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1|H(+)-transporting two-sector ATPase, 58kD subunit|H+-ATPase beta 1 subunit|V-ATPase B1 subunit|V-ATPase subunit B 1|endomembrane proton pump 58 kDa subunit|vacuolar proton pump 3|vacuolar proton pump subunit B 1|vacuolar proton pump, subunit 3 20210708 - 9606 526 ATP6V1B2 - ATP6B1B2|ATP6B2|DOOD|HO57|VATB|VPP3|Vma2|ZLS2 MIM:606939|HGNC:HGNC:854|Ensembl:ENSG00000147416 8 8p21.3 ATPase H+ transporting V1 subunit B2 protein-coding ATP6V1B2 ATPase H+ transporting V1 subunit B2 O V-type proton ATPase subunit B, brain isoform|ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2|H+ transporting two-sector ATPase|V-ATPase B2 subunit|V-ATPase subunit B 2|endomembrane proton pump 58 kDa subunit|testicular secretory protein Li 65|vacuolar H+-ATPase 56,000 subunit|vacuolar proton pump subunit B 2 20210905 - 9606 527 ATP6V0C - ATP6C|ATP6L|ATPL|VATL|VPPC|Vma3 MIM:108745|HGNC:HGNC:855|Ensembl:ENSG00000185883 16 16p13.3 ATPase H+ transporting V0 subunit c protein-coding ATP6V0C ATPase H+ transporting V0 subunit c O V-type proton ATPase 16 kDa proteolipid subunit|ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c|H(+)-transporting two-sector ATPase, 16 kDa subunit|V-ATPase 16 kDa proteolipid subunit|vacuolar ATP synthase 16 kDa proteolipid subunit|vacuolar H+ ATPase proton channel subunit|vacuolar proton pump 16 kDa proteolipid subunit 20210731 - 9606 528 ATP6V1C1 - ATP6C|ATP6D|VATC|Vma5 MIM:603097|HGNC:HGNC:856|Ensembl:ENSG00000155097 8 8q22.3 ATPase H+ transporting V1 subunit C1 protein-coding ATP6V1C1 ATPase H+ transporting V1 subunit C1 O V-type proton ATPase subunit C 1|ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1|H(+)-transporting two-sector ATPase, subunit C|H+ -ATPase C subunit|H+-transporting ATPase chain C, vacuolar|V-ATPase C subunit|V-ATPase subunit C 1|subunit C of vacuolar proton-ATPase V1 domain|testicular tissue protein Li 223|vacuolar ATP synthase subunit C|vacuolar proton pump C subunit|vacuolar proton pump subunit C 1|vacuolar proton pump, 42-kD subunit|vacuolar proton-ATPase, subunit C, VI domain 20210808 - 9606 529 ATP6V1E1 - ARCL2C|ATP6E|ATP6E2|ATP6V1E|P31|Vma4 MIM:108746|HGNC:HGNC:857|Ensembl:ENSG00000131100 22 22q11.21 ATPase H+ transporting V1 subunit E1 protein-coding ATP6V1E1 ATPase H+ transporting V1 subunit E1 O V-type proton ATPase subunit E 1|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1|H(+)-transporting two-sector ATPase, 31kDa subunit|H+-transporting ATP synthase chain E, vacuolar|V-ATPase 31 kDa subunit|V-ATPase subunit E 1|V-ATPase, subunit E|vacuolar proton pump subunit E 1 20211017 - 9606 533 ATP6V0B - ATP6F|HATPL|VMA16 MIM:603717|HGNC:HGNC:861|Ensembl:ENSG00000117410 1 1p34.1 ATPase H+ transporting V0 subunit b protein-coding ATP6V0B ATPase H+ transporting V0 subunit b O V-type proton ATPase 21 kDa proteolipid subunit|ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b|ATPase, H+ transporting, lysosomal, 21-KD, V0 subunit C-prime, prime|ATPase, H+ transporting, lysosomal, subunit F|H(+)-transporting two-sector ATPase, subunit F|V-ATPase 21 kDa proteolipid subunit|V-ATPase subunit b|V-ATPase subunit c''|vacuolar ATP synthase 21 kDa proteolipid subunit|vacuolar proton pump 21 kDa proteolipid subunit 20210708 - 9606 534 ATP6V1G2 - ATP6G|ATP6G2|NG38|VMA10 MIM:606853|HGNC:HGNC:862|Ensembl:ENSG00000213760 6 6p21.33 ATPase H+ transporting V1 subunit G2 protein-coding ATP6V1G2 ATPase H+ transporting V1 subunit G2 O V-type proton ATPase subunit G 2|ATPase, H+ transporting, lysosomal (vacuolar proton pump)|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2|H(+)-transporting two-sector ATPase, subunit G2|V-ATPase 13 kDa subunit 2|vacuolar ATP synthase subunit G 2|vacuolar proton pump G subunit 2 20210708 - 9606 535 ATP6V0A1 - ATP6N1|ATP6N1A|Stv1|VPP1|Vph1|a1 MIM:192130|HGNC:HGNC:865|Ensembl:ENSG00000033627 17 17q21.2 ATPase H+ transporting V0 subunit a1 protein-coding ATP6V0A1 ATPase H+ transporting V0 subunit a1 O V-type proton ATPase 116 kDa subunit a1|ATPase, H+ transporting, lysosomal V0 subunit a1|ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD)|H(+)-transporting two-sector ATPase, 116 kDa accessory protein A1|V-ATPase 116 kDa subunit a1|V-ATPase subunit a1|V-type proton ATPase 116 kDa subunit a|clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit|vacuolar adenosine triphosphatase subunit Ac116|vacuolar proton pump subunit 1|vacuolar proton translocating ATPase 116 kDa subunit A|vacuolar-type H(+)-ATPase 115 kDa subunit 20211016 - 9606 537 ATP6AP1 - 16A|ATP6IP1|ATP6S1|Ac45|CF2|VATPS1|XAP-3|XAP3 MIM:300197|HGNC:HGNC:868|Ensembl:ENSG00000071553 X Xq28 ATPase H+ transporting accessory protein 1 protein-coding ATP6AP1 ATPase H+ transporting accessory protein 1 O V-type proton ATPase subunit S1|ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1|ATPase, H+ transporting, lysosomal accessory protein 1|ATPase, H+ transporting, lysosomal interacting protein 1|H-ATPase subunit|V-ATPase Ac45 subunit|V-ATPase S1 accessory protein|V-ATPase subunit S1|X-associated protein 3|epididymis secretory sperm binding protein|protein XAP-3|vacuolar ATPase subunit S1|vacuolar proton pump subunit S1 20210906 - 9606 538 ATP7A - DSMAX|MK|MNK|SMAX3 MIM:300011|HGNC:HGNC:869|Ensembl:ENSG00000165240 X Xq21.1 ATPase copper transporting alpha protein-coding ATP7A ATPase copper transporting alpha O copper-transporting ATPase 1|ATPase, Cu++ transporting, alpha polypeptide|Cu++-transporting P-type ATPase|Menkes disease-associated protein|copper pump 1 20210905 - 9606 539 ATP5PO - ATP5O|ATPO|HMC08D05|OSCP MIM:600828|HGNC:HGNC:850|Ensembl:ENSG00000241837 21 21q22.11 ATP synthase peripheral stalk subunit OSCP protein-coding ATP5PO ATP synthase peripheral stalk subunit OSCP O ATP synthase subunit O, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit|human ATP synthase OSCP subunit|oligomycin sensitivity conferral protein oscp-like protein|oligomycin sensitivity conferring protein 20210905 - 9606 540 ATP7B - PWD|WC1|WD|WND MIM:606882|HGNC:HGNC:870|Ensembl:ENSG00000123191 13 13q14.3 ATPase copper transporting beta protein-coding ATP7B ATPase copper transporting beta O copper-transporting ATPase 2|ATPase, Cu(2+)- transporting, beta polypeptide|ATPase, Cu++ transporting, beta polypeptide|Wilson disease-associated protein|copper pump 2|copper-transporting protein ATP7B 20210926 - 9606 541 ALDH7A1P1 - ATQL1 HGNC:HGNC:878|Ensembl:ENSG00000251400 5 5q13.3 aldehyde dehydrogenase 7 family member A1 pseudogene 1 pseudo ALDH7A1P1 aldehyde dehydrogenase 7 family member A1 pseudogene 1 O antiquitin-like 1 20210611 - 9606 542 ALDH7A1P2 - ATQL2 HGNC:HGNC:879|Ensembl:ENSG00000232292 2 2q31.1 aldehyde dehydrogenase 7 family member A1 pseudogene 2 pseudo ALDH7A1P2 aldehyde dehydrogenase 7 family member A1 pseudogene 2 O aldehyde dehydrogenase 7 family, member A1 pseudogene 2|antiquitin-like 2 20210611 - 9606 543 ALDH7A1P3 - ATQL3 HGNC:HGNC:880 7 7q36.1 aldehyde dehydrogenase 7 family member A1 pseudogene 3 pseudo ALDH7A1P3 aldehyde dehydrogenase 7 family member A1 pseudogene 3 O antiquitin-like 3 20210611 - 9606 544 ALDH7A1P4 - ATQL4 HGNC:HGNC:881 10 10q21.2 aldehyde dehydrogenase 7 family member A1 pseudogene 4 pseudo ALDH7A1P4 aldehyde dehydrogenase 7 family member A1 pseudogene 4 O antiquitin-like 4 20210611 - 9606 545 ATR - FCTCS|FRP1|MEC1|SCKL|SCKL1 MIM:601215|HGNC:HGNC:882|Ensembl:ENSG00000175054 3 3q23 ATR serine/threonine kinase protein-coding ATR ATR serine/threonine kinase O serine/threonine-protein kinase ATR|FRAP-related protein-1|MEC1, mitosis entry checkpoint 1, homolog|ataxia telangiectasia and Rad3-related protein 20211031 - 9606 546 ATRX - JMS|MRX52|RAD54|RAD54L|XH2|XNP|ZNF-HX MIM:300032|HGNC:HGNC:886|Ensembl:ENSG00000085224 X Xq21.1 ATRX chromatin remodeler protein-coding ATRX ATRX chromatin remodeler O transcriptional regulator ATRX|ATP-dependent helicase ATRX|X-linked helicase II|X-linked nuclear protein|alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) 20211028 - 9606 547 KIF1A - ATSV|C2orf20|HSN2C|MRD9|NESCAVS|SPG30|UNC104 MIM:601255|HGNC:HGNC:888|Ensembl:ENSG00000130294 2 2q37.3 kinesin family member 1A protein-coding KIF1A kinesin family member 1A O kinesin-like protein KIF1A|axonal transporter of synaptic vesicles|kinesin, heavy chain, member 1A, homolog of mouse|microtubule-based motor KIF1A|unc-104- and KIF1A-related protein 20211016 - 9606 549 AUH - - MIM:600529|HGNC:HGNC:890|Ensembl:ENSG00000148090 9 9q22.31 AU RNA binding methylglutaconyl-CoA hydratase protein-coding AUH AU RNA binding methylglutaconyl-CoA hydratase O methylglutaconyl-CoA hydratase, mitochondrial|3-methylglutaconyl-CoA hydratase|AU RNA binding protein/enoyl-CoA hydratase|AU RNA-binding protein/enoyl-Coenzyme A hydratase|AU-binding protein/Enoyl-CoA hydratase|AU-specific RNA-binding enoyl-CoA hydratase|itaconyl-CoA hydratase 20210905 - 9606 550 AUP1 - - MIM:602434|HGNC:HGNC:891|Ensembl:ENSG00000115307 2 2p13.1 AUP1 lipid droplet regulating VLDL assembly factor protein-coding AUP1 AUP1 lipid droplet regulating VLDL assembly factor O lipid droplet-regulating VLDL assembly factor AUP1|ancient ubiquitous protein 1 20210905 - 9606 551 AVP - ADH|ARVP|AVP-NPII|AVRP|VP MIM:192340|HGNC:HGNC:894|Ensembl:ENSG00000101200 20 20p13 arginine vasopressin protein-coding AVP arginine vasopressin O vasopressin-neurophysin 2-copeptin|antidiuretic hormone|copeptin|neurohypophyseal|prepro-AVP-NP II|prepro-arginine-vasopressin-neurophysin II|vasopressin-neurophysin II-copeptin 20211031 - 9606 552 AVPR1A - AVPR V1a|AVPR1|V1aR MIM:600821|HGNC:HGNC:895|Ensembl:ENSG00000166148 12 12q14.2 arginine vasopressin receptor 1A protein-coding AVPR1A arginine vasopressin receptor 1A O vasopressin V1a receptor|SCCL vasopressin subtype 1a receptor|V1-vascular vasopressin receptor AVPR1A|V1a vasopressin receptor|antidiuretic hormone receptor 1A|vascular/hepatic-type arginine vasopressin receptor 20210919 - 9606 553 AVPR1B - AVPR3|V1bR|VPR3 MIM:600264|HGNC:HGNC:896|Ensembl:ENSG00000198049 1 1q32.1 arginine vasopressin receptor 1B protein-coding AVPR1B arginine vasopressin receptor 1B O vasopressin V1b receptor|AVPR V1b|AVPR V3|V1B receptor|antidiuretic hormone receptor 1B|arginine vasopressin receptor 3|pituitary vasopressin receptor 3|vasopressin V3 receptor 20210919 - 9606 554 AVPR2 - ADHR|DI1|DIR|DIR3|NDI|NDI1|V2R MIM:300538|HGNC:HGNC:897|Ensembl:ENSG00000126895 X Xq28 arginine vasopressin receptor 2 protein-coding AVPR2 arginine vasopressin receptor 2 O vasopressin V2 receptor|AVPR V2|antidiuretic hormone receptor|renal-type arginine vasopressin receptor 20210708 - 9606 558 AXL - ARK|JTK11|Tyro7|UFO MIM:109135|HGNC:HGNC:905|Ensembl:ENSG00000167601 19 19q13.2 AXL receptor tyrosine kinase protein-coding AXL AXL receptor tyrosine kinase O tyrosine-protein kinase receptor UFO|AXL oncogene|AXL transforming sequence/gene 20211031 - 9606 560 AZF1 - AZF|AZFA|SP3 MIM:415000 Y Yq11 azoospermia factor 1 unknown - - - - 20191002 - 9606 563 AZGP1 - ZA2G|ZAG MIM:194460|HGNC:HGNC:910|Ensembl:ENSG00000160862 7 7q22.1 alpha-2-glycoprotein 1, zinc-binding protein-coding AZGP1 alpha-2-glycoprotein 1, zinc-binding O zinc-alpha-2-glycoprotein|Alpha-2-glycoprotein, zinc|Zn-alpha2-glycoprotein|testicular tissue protein Li 227|zn-alpha-2-GP|zn-alpha-2-glycoprotein 20211031 - 9606 566 AZU1 - AZAMP|AZU|CAP37|HBP|HUMAZUR|NAZC|hHBP MIM:162815|HGNC:HGNC:913|Ensembl:ENSG00000172232 19 19p13.3 azurocidin 1 protein-coding AZU1 azurocidin 1 O azurocidin|cationic antimicrobial protein 37|cationic antimicrobial protein CAP37|heparin-binding protein|neutrophil azurocidin 20211031 - 9606 567 B2M - IMD43 MIM:109700|HGNC:HGNC:914|Ensembl:ENSG00000166710 15 15q21.1 beta-2-microglobulin protein-coding B2M beta-2-microglobulin O beta-2-microglobulin|beta chain of MHC class I molecules|beta-2-microglobin 20210926 - 9606 568 B2MR - - MIM:109710|HGNC:HGNC:915 15 15q13-q15 beta-2-microglobulin regulator unknown B2MR beta-2-microglobulin regulator O - 20190324 - 9606 570 BAAT - BACAT|BACD1|BAT|HCHO MIM:602938|HGNC:HGNC:932|Ensembl:ENSG00000136881 9 9q31.1 bile acid-CoA:amino acid N-acyltransferase protein-coding BAAT bile acid-CoA:amino acid N-acyltransferase O bile acid-CoA:amino acid N-acyltransferase|bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)|bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase)|bile acid-CoA thioesterase|choloyl-CoA hydrolase|long-chain fatty-acyl-CoA hydrolase 20210708 - 9606 571 BACH1 - BACH-1|BTBD24 MIM:602751|HGNC:HGNC:935|Ensembl:ENSG00000156273 21 21q21.3 BTB domain and CNC homolog 1 protein-coding BACH1 BTB domain and CNC homolog 1 O transcription regulator protein BACH1|BTB and CNC homology 1, basic leucine zipper transcription factor 1|basic region leucine zipper transcriptional regulator BACH1 20211031 - 9606 572 BAD - BBC2|BCL2L8 MIM:603167|HGNC:HGNC:936|Ensembl:ENSG00000002330 11 11q13.1 BCL2 associated agonist of cell death protein-coding BAD BCL2 associated agonist of cell death O bcl2-associated agonist of cell death|BCL-X/BCL-2 binding protein|BCL2-antagonist of cell death protein|BCL2-binding component 6|BCL2-binding protein|bcl-2-binding component 6|bcl-2-like protein 8|bcl-XL/Bcl-2-associated death promoter|bcl2 antagonist of cell death|bcl2-L-8 20210822 - 9606 573 BAG1 - BAG-1|HAP|RAP46 MIM:601497|HGNC:HGNC:937|Ensembl:ENSG00000107262 9 9p13.3 BAG cochaperone 1 protein-coding BAG1 BAG cochaperone 1 O BAG family molecular chaperone regulator 1|BCL2 associated athanogene 1|BCL2-associated athanogene|Bcl-2 associating athanogene-1 protein|Bcl-2-binding protein|glucocortoid receptor-associated protein RAP46|receptor-associated protein, 46-KD 20211028 - 9606 574 BAGE - BAGE1|CT2.1 MIM:605167|HGNC:HGNC:942 21 21p11.1 B melanoma antigen protein-coding BAGE B melanoma antigen O B melanoma antigen 1|antigen MZ2-BA|cancer/testis antigen 2.1|cancer/testis antigen family 2, member 1 20210724 - 9606 575 ADGRB1 - BAI1|GDAIF MIM:602682|HGNC:HGNC:943|Ensembl:ENSG00000181790 8 8q24.3 adhesion G protein-coupled receptor B1 protein-coding ADGRB1 adhesion G protein-coupled receptor B1 O adhesion G protein-coupled receptor B1|brain-specific angiogenesis inhibitor 1 20210912 - 9606 576 ADGRB2 - BAI2 MIM:602683|HGNC:HGNC:944|Ensembl:ENSG00000121753 1 1p35.2 adhesion G protein-coupled receptor B2 protein-coding ADGRB2 adhesion G protein-coupled receptor B2 O adhesion G protein-coupled receptor B2|brain-specific angiogenesis inhibitor 2 20210905 - 9606 577 ADGRB3 - BAI3 MIM:602684|HGNC:HGNC:945|Ensembl:ENSG00000135298 6 6q12-q13 adhesion G protein-coupled receptor B3 protein-coding ADGRB3 adhesion G protein-coupled receptor B3 O adhesion G protein-coupled receptor B3|brain-specific angiogenesis inhibitor 3|dJ91B17.1 (brain-specific angiogenesis inhibitor 3) 20210726 - 9606 578 BAK1 - BAK|BAK-LIKE|BCL2L7|CDN1 MIM:600516|HGNC:HGNC:949|Ensembl:ENSG00000030110 6 6p21.31 BCL2 antagonist/killer 1 protein-coding BAK1 BCL2 antagonist/killer 1 O bcl-2 homologous antagonist/killer|BCL2-like 7 protein|apoptosis regulator BAK|bcl-2-like protein 7|bcl2-L-7|pro-apoptotic protein BAK 20210906 - 9606 579 NKX3-2 - BAPX1|NKX3.2|NKX3B|SMMD MIM:602183|HGNC:HGNC:951|Ensembl:ENSG00000109705 4 4p15.33 NK3 homeobox 2 protein-coding NKX3-2 NK3 homeobox 2 O homeobox protein Nkx-3.2|bagpipe homeobox protein homolog 1|homeobox protein NK-3 homolog B 20210905 - 9606 580 BARD1 - - MIM:601593|HGNC:HGNC:952|Ensembl:ENSG00000138376 2 2q35 BRCA1 associated RING domain 1 protein-coding BARD1 BRCA1 associated RING domain 1 O BRCA1-associated RING domain protein 1|BRCA1-associated RING domain gene 1|RING-type E3 ubiquitin transferase BARD1 20211017 - 9606 581 BAX - BCL2L4 MIM:600040|HGNC:HGNC:959|Ensembl:ENSG00000087088 19 19q13.33 BCL2 associated X, apoptosis regulator protein-coding BAX BCL2 associated X, apoptosis regulator O apoptosis regulator BAX|BCL2 associated X protein|BCL2-associated X protein omega|Baxdelta2G9|Baxdelta2G9omega|Baxdelta2omega|bcl-2-like protein 4|bcl2-L-4 20211031 - 9606 582 BBS1 - BBS2L2 MIM:209901|HGNC:HGNC:966|Ensembl:ENSG00000174483 11 11q13.2 Bardet-Biedl syndrome 1 protein-coding BBS1 Bardet-Biedl syndrome 1 O Bardet-Biedl syndrome 1 protein|BBS2-like protein 2 20211031 - 9606 583 BBS2 - BBS|RP74 MIM:606151|HGNC:HGNC:967|Ensembl:ENSG00000125124 16 16q13 Bardet-Biedl syndrome 2 protein-coding BBS2 Bardet-Biedl syndrome 2 O Bardet-Biedl syndrome 2 protein 20211016 - 9606 585 BBS4 - - MIM:600374|HGNC:HGNC:969|Ensembl:ENSG00000140463 15 15q24.1 Bardet-Biedl syndrome 4 protein-coding BBS4 Bardet-Biedl syndrome 4 O Bardet-Biedl syndrome 4 protein 20211029 - 9606 586 BCAT1 - BCATC|BCT1|ECA39|MECA39|PNAS121|PP18 MIM:113520|HGNC:HGNC:976|Ensembl:ENSG00000060982 12 12p12.1 branched chain amino acid transaminase 1 protein-coding BCAT1 branched chain amino acid transaminase 1 O branched-chain-amino-acid aminotransferase, cytosolic|branched chain amino-acid transaminase 1, cytosolic|branched chain aminotransferase 1, cytosolic|placental protein 18 20210822 - 9606 587 BCAT2 - BCAM|BCATM|BCT2|HVLI|PP18 MIM:113530|HGNC:HGNC:977|Ensembl:ENSG00000105552 19 19q13.33 branched chain amino acid transaminase 2 protein-coding BCAT2 branched chain amino acid transaminase 2 O branched-chain-amino-acid aminotransferase, mitochondrial|branched chain amino-acid transaminase 2, mitochondrial|branched chain aminotransferase 2, mitochondrial|placental protein 18 20211017 - 9606 590 BCHE - BCHED|CHE1|CHE2|E1 MIM:177400|HGNC:HGNC:983|Ensembl:ENSG00000114200 3 3q26.1 butyrylcholinesterase protein-coding BCHE butyrylcholinesterase O cholinesterase|acylcholine acylhydrolase|butyrylcholine esterase|choline esterase II|cholinesterase (serum) 2|cholinesterase 1|pseudocholinesterase 20211026 - 9606 593 BCKDHA - BCKDE1A|MSU|MSUD1|OVD1A MIM:608348|HGNC:HGNC:986|Ensembl:ENSG00000248098 19 19q13.2 branched chain keto acid dehydrogenase E1 subunit alpha protein-coding BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha O 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial|2-oxoisovalerate dehydrogenase (lipoamide)|BCKDH E1-alpha|branched chain keto acid dehydrogenase E1 alpha protein|branched chain keto acid dehydrogenase E1, alpha polypeptide|branched-chain alpha-keto acid dehydrogenase E1 component alpha chain 20210708 - 9606 594 BCKDHB - BCKDE1B|BCKDH E1-beta|E1B MIM:248611|HGNC:HGNC:987|Ensembl:ENSG00000083123 6 6q14.1 branched chain keto acid dehydrogenase E1 subunit beta protein-coding BCKDHB branched chain keto acid dehydrogenase E1 subunit beta O 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial|E1b-beta subunit of the branched-chain complex|branched chain alpha-ketoacid dehydrogenase E1-beta subunit|branched chain keto acid dehydrogenase E1 beta|branched chain keto acid dehydrogenase E1, beta polypeptide|branched-chain alpha-keto acid dehydrogenase E1 component beta chain|testis secretory sperm-binding protein Li 240mP 20210708 - 9606 595 CCND1 - BCL1|D11S287E|PRAD1|U21B31 MIM:168461|HGNC:HGNC:1582|Ensembl:ENSG00000110092 11 11q13.3 cyclin D1 protein-coding CCND1 cyclin D1 O G1/S-specific cyclin-D1|B-cell CLL/lymphoma 1|B-cell lymphoma 1 protein|BCL-1 oncogene|PRAD1 oncogene 20211017 - 9606 596 BCL2 - Bcl-2|PPP1R50 MIM:151430|HGNC:HGNC:990|Ensembl:ENSG00000171791 18 18q21.33 BCL2 apoptosis regulator protein-coding BCL2 BCL2 apoptosis regulator O apoptosis regulator Bcl-2|B-cell CLL/lymphoma 2|protein phosphatase 1, regulatory subunit 50 20211031 - 9606 597 BCL2A1 - ACC-1|ACC-2|ACC1|ACC2|BCL2L5|BFL1|GRS|HBPA1 MIM:601056|HGNC:HGNC:991|Ensembl:ENSG00000140379 15 15q25.1 BCL2 related protein A1 protein-coding BCL2A1 BCL2 related protein A1 O bcl-2-related protein A1|bcl-2-like protein 5|bcl2-L-5|hematopoietic BCL2-related protein A1|hemopoietic-specific early response protein|protein BFL-1 20210912 - 9606 598 BCL2L1 - BCL-XL/S|BCL2L|BCLX|Bcl-X|PPP1R52 MIM:600039|HGNC:HGNC:992|Ensembl:ENSG00000171552 20 20q11.21 BCL2 like 1 protein-coding BCL2L1 BCL2 like 1 O bcl-2-like protein 1|apoptosis regulator Bcl-X|protein phosphatase 1, regulatory subunit 52 20211031 - 9606 599 BCL2L2 - BCL-W|BCL2-L-2|BCLW|PPP1R51 MIM:601931|HGNC:HGNC:995|Ensembl:ENSG00000129473 14 14q11.2 BCL2 like 2 protein-coding BCL2L2 BCL2 like 2 O bcl-2-like protein 2|apoptosis regulator BCL-W|protein phosphatase 1, regulatory subunit 51 20211026 - 9606 600 BAK1P1 - BAK2|BCL2L7P1|Bak-2 HGNC:HGNC:996 20 20q11.21 BCL2 antagonist/killer 1 pseudogene 1 pseudo BAK1P1 BCL2 antagonist/killer 1 pseudogene 1 O BCL2-like 7 pseudogene 1 20210611 - 9606 601 BAK1P2 - BAK3|BAK3P|BCL2L7P2 HGNC:HGNC:997 11 11q24.3 BCL2 antagonist/killer 1 pseudogene 2 pseudo BAK1P2 BCL2 antagonist/killer 1 pseudogene 2 O BCL2-like 7 pseudogene 2 20210611 - 9606 602 BCL3 - BCL4|D19S37 MIM:109560|HGNC:HGNC:998|Ensembl:ENSG00000069399 19 19q13.32 BCL3 transcription coactivator protein-coding BCL3 BCL3 transcription coactivator O B-cell lymphoma 3 protein|B cell CLL/lymphoma 3|B-cell leukemia/lymphoma 3|B-cell lymphoma 3-encoded protein|BCL-3|chronic lymphatic leukemia protein|proto-oncogene BCL3 20211031 - 9606 603 BCL5 - - MIM:151441 17 17q22 B cell CLL/lymphoma 5 unknown - - - - 20191002 - 9606 604 BCL6 - BCL5|BCL6A|LAZ3|ZBTB27|ZNF51 MIM:109565|HGNC:HGNC:1001|Ensembl:ENSG00000113916 3 3q27.3 BCL6 transcription repressor protein-coding BCL6 BCL6 transcription repressor O B-cell lymphoma 6 protein|B cell CLL/lymphoma 6|B-cell lymphoma 5 protein|B-cell lymphoma 6 protein transcript|BCL-5|BCL-6|cys-his2 zinc finger transcription factor|lymphoma-associated zinc finger gene on chromosome 3|protein LAZ-3|zinc finger and BTB domain-containing protein 27|zinc finger protein 51|zinc finger transcription factor BCL6S 20211031 - 9606 605 BCL7A - BCL7|SMARCJ1 MIM:601406|HGNC:HGNC:1004|Ensembl:ENSG00000110987 12 12q24.31 BAF chromatin remodeling complex subunit BCL7A protein-coding BCL7A BAF chromatin remodeling complex subunit BCL7A O B-cell CLL/lymphoma 7 protein family member A|B-cell CLL/lymphoma 7A|B-cell CLL/lymphoma-7|BCL tumor suppressor 7A|BCL7A, BAF complex component 20210912 - 9606 606 NBEAP1 - BCL8|BCL8A MIM:601889|HGNC:HGNC:1007 15 15q11.2 neurobeachin pseudogene 1 pseudo NBEAP1 neurobeachin pseudogene 1 O B-cell CLL/lymphoma 8 20210724 - 9606 607 BCL9 - LGS MIM:602597|HGNC:HGNC:1008|Ensembl:ENSG00000116128 1 1q21.2 BCL9 transcription coactivator protein-coding BCL9 BCL9 transcription coactivator O B-cell CLL/lymphoma 9 protein|B cell CLL/lymphoma 9|B-cell lymphoma 9 protein|bcl-9|protein legless homolog 20210822 - 9606 608 TNFRSF17 - BCM|BCMA|CD269|TNFRSF13A MIM:109545|HGNC:HGNC:11913|Ensembl:ENSG00000048462 16 16p13.13 TNF receptor superfamily member 17 protein-coding TNFRSF17 TNF receptor superfamily member 17 O tumor necrosis factor receptor superfamily member 17|B cell maturation antigen|B-cell maturation factor|B-cell maturation protein 20211003 - 9606 610 HCN2 - BCNG-2|BCNG2|EIG17|FEB2|GEFSP11|HAC-1 MIM:602781|HGNC:HGNC:4846|Ensembl:ENSG00000099822 19 19p13.3 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 protein-coding HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 O potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2|brain cyclic nucleotide-gated channel 2|hyperpolarization activated cyclic nucleotide gated potassium channel 2 20210918 - 9606 611 OPN1SW - BCP|BOP|CBT MIM:613522|HGNC:HGNC:1012|Ensembl:ENSG00000128617 7 7q32.1 opsin 1, short wave sensitive protein-coding OPN1SW opsin 1, short wave sensitive O short-wave-sensitive opsin 1|blue cone photoreceptor pigment|blue-sensitive opsin|opsin 1 (cone pigments), short-wave-sensitive 20211016 - 9606 613 BCR - ALL|BCR1|CML|D22S11|D22S662|PHL MIM:151410|HGNC:HGNC:1014|Ensembl:ENSG00000186716 22 22q11.23 BCR activator of RhoGEF and GTPase protein-coding BCR BCR activator of RhoGEF and GTPase O breakpoint cluster region protein|BCR, RhoGEF and GTPase activating protein|BCR/FGFR1 chimera protein|FGFR1/BCR chimera protein|breakpoint cluster region|renal carcinoma antigen NY-REN-26 20211028 - 9606 616 BCRP4 - BCR-4|BCR4|BCRL4 HGNC:HGNC:1017|Ensembl:ENSG00000215456 22 22q11.22 BCR pseudogene 4 pseudo BCRP4 BCR pseudogene 4 O breakpoint cluster region pseudogene 4|breakpoint cluster region-like 4 20210611 - 9606 617 BCS1L - BCS|BCS1|BJS|FLNMS|GRACILE|Hs.6719|MC3DN1|PTD|h-BCS|h-BCS1 MIM:603647|HGNC:HGNC:1020|Ensembl:ENSG00000074582 2 2q35 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone protein-coding BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone O mitochondrial chaperone BCS1|BC1 (ubiquinol-cytochrome c reductase) synthesis-like|BCS1-like protein|mitochondrial complex III assembly 20210708 - 9606 618 BCYRN1 - BC200|BC200a|LINC00004|NCRNA00004 MIM:606089|HGNC:HGNC:1022|Ensembl:ENSG00000236824 2 2p21 brain cytoplasmic RNA 1 ncRNA BCYRN1 brain cytoplasmic RNA 1 O BC200-alpha|brain cytoplasmic RNA 1 (analog of mouse Bc1)|brain cytoplasmic RNA 1 (non-protein coding)|brain cytoplasmic RNA 1, Bc1 analog|brain cytoplasmic RNA 200-alpha|long intergenic non-protein coding RNA 4|non-protein coding RNA 4 20210906 - 9606 619 BCYRN1P1 - BC200b HGNC:HGNC:1023 X Xq27.1 brain cytoplasmic RNA 1, pseudogene 1 pseudo BCYRN1P1 brain cytoplasmic RNA 1, pseudogene 1 O - 20210611 - 9606 620 BCYRN1P2 - BC200g HGNC:HGNC:1024 1 1q42 brain cytoplasmic RNA 1, pseudogene 2 pseudo BCYRN1P2 brain cytoplasmic RNA 1, pseudogene 2 O - 20190213 - 9606 622 BDH1 - BDH|SDR9C1 MIM:603063|HGNC:HGNC:1027|Ensembl:ENSG00000161267 3 3q29 3-hydroxybutyrate dehydrogenase 1 protein-coding BDH1 3-hydroxybutyrate dehydrogenase 1 O D-beta-hydroxybutyrate dehydrogenase, mitochondrial|(R)-3-hydroxybutyrate dehydrogenase|3-hydroxybutyrate dehydrogenase (heart, mitochondrial)|3-hydroxybutyrate dehydrogenase, type 1|epididymis secretory sperm binding protein|short chain dehydrogenase/reductase family 9C member 1 20210708 - 9606 623 BDKRB1 - B1BKR|B1R|BKB1R|BKR1|BRADYB1 MIM:600337|HGNC:HGNC:1029|Ensembl:ENSG00000100739 14 14q32.2 bradykinin receptor B1 protein-coding BDKRB1 bradykinin receptor B1 O B1 bradykinin receptor|BK-1 receptor|bradykinin B1 receptor|bradykinin receptor 1 20210719 - 9606 624 BDKRB2 - B2R|BK-2|BK2|BKR2|BRB2 MIM:113503|HGNC:HGNC:1030|Ensembl:ENSG00000168398 14 14q32.2 bradykinin receptor B2 protein-coding BDKRB2 bradykinin receptor B2 O B2 bradykinin receptor|BK-2 receptor 20210906 - 9606 627 BDNF - ANON2|BULN2 MIM:113505|HGNC:HGNC:1033|Ensembl:ENSG00000176697 11 11p14.1 brain derived neurotrophic factor protein-coding BDNF brain derived neurotrophic factor O brain-derived neurotrophic factor|abrineurin|neurotrophin 20211031 - 9606 628 BEVI - - MIM:109180 6 - baboon M7 virus integration site unknown - - - Baboon M7 virus replication 20200625 - 9606 629 CFB - AHUS4|ARMD14|BF|BFD|CFAB|CFBD|FB|FBI12|GBG|H2-Bf|PBF2 MIM:138470|HGNC:HGNC:1037|Ensembl:ENSG00000243649 6 6p21.33 complement factor B protein-coding CFB complement factor B O complement factor B|B-factor, properdin|C3 proaccelerator|C3 proactivator|C3/C5 convertase|glycine-rich beta-glycoprotein|properdin factor B 20210808 - 9606 631 BFSP1 - CP115|CP94|CTRCT33|LIFL-H MIM:603307|HGNC:HGNC:1040|Ensembl:ENSG00000125864 20 20p12.1 beaded filament structural protein 1 protein-coding BFSP1 beaded filament structural protein 1 O filensin|beaded filament structural protein 1, filensin|cytoskeletal protein, 115 KD|lens fiber cell beaded-filament structural protein CP 115|lens intermediate filament-like heavy 20210704 - 9606 632 BGLAP - BGP|OC|OCN MIM:112260|HGNC:HGNC:1043|Ensembl:ENSG00000242252 1 1q22 bone gamma-carboxyglutamate protein protein-coding BGLAP bone gamma-carboxyglutamate protein O osteocalcin|bone gamma-carboxyglutamate (gla) protein (osteocalcin)|gamma-carboxyglutamic acid-containing protein 20211026 - 9606 633 BGN - DSPG1|MRLS|PG-S1|PGI|SEMDX|SLRR1A MIM:301870|HGNC:HGNC:1044|Ensembl:ENSG00000182492 X Xq28 biglycan protein-coding BGN biglycan O biglycan|bone/cartilage proteoglycan-I|dermatan sulphate proteoglycan I|small leucine-rich protein 1A 20210912 - 9606 634 CEACAM1 - BGP|BGP1|BGPI MIM:109770|HGNC:HGNC:1814|Ensembl:ENSG00000079385 19 19q13.2 CEA cell adhesion molecule 1 protein-coding CEACAM1 CEA cell adhesion molecule 1 O carcinoembryonic antigen-related cell adhesion molecule 1|CD66a antigen|antigen CD66|carcinoembryonic antigen related cell adhesion molecule 1|carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 20211026 - 9606 635 BHMT - BHMT1|HEL-S-61p MIM:602888|HGNC:HGNC:1047|Ensembl:ENSG00000145692 5 5q14.1 betaine--homocysteine S-methyltransferase protein-coding BHMT betaine--homocysteine S-methyltransferase O betaine--homocysteine S-methyltransferase 1|epididymis secretory sperm binding protein Li 61p 20211017 - 9606 636 BICD1 - BICD|bic-D 1 MIM:602204|HGNC:HGNC:1049|Ensembl:ENSG00000151746 12 12p11.21 BICD cargo adaptor 1 protein-coding BICD1 BICD cargo adaptor 1 O protein bicaudal D homolog 1|bicaudal D homolog 1|cytoskeleton-like bicaudal D protein homolog 1 20210905 - 9606 637 BID - FP497 MIM:601997|HGNC:HGNC:1050|Ensembl:ENSG00000015475 22 22q11.21 BH3 interacting domain death agonist protein-coding BID BH3 interacting domain death agonist O BH3-interacting domain death agonist|Human BID coding sequence|apoptic death agonist|desmocollin type 4|p22 BID 20210709 - 9606 638 BIK - BIP1|BP4|NBK MIM:603392|HGNC:HGNC:1051|Ensembl:ENSG00000100290 22 22q13.2 BCL2 interacting killer protein-coding BIK BCL2 interacting killer O bcl-2-interacting killer|BCL2-interacting killer (apoptosis-inducing)|apoptosis inducer NBK|apoptosis-inducing NBK|natural born killer 20210611 - 9606 639 PRDM1 - BLIMP1|PRDI-BF1 MIM:603423|HGNC:HGNC:9346|Ensembl:ENSG00000057657 6 6q21 PR/SET domain 1 protein-coding PRDM1 PR/SET domain 1 O PR domain zinc finger protein 1|B-lymphocyte-induced maturation protein 1|BLIMP-1|PR domain 1|PR domain containing 1, with ZNF domain|PRDI-binding factor-1|beta-interferon gene positive-regulatory domain I binding factor 20211031 - 9606 640 BLK - MODY11 MIM:191305|HGNC:HGNC:1057|Ensembl:ENSG00000136573 8 8p23.1 BLK proto-oncogene, Src family tyrosine kinase protein-coding BLK BLK proto-oncogene, Src family tyrosine kinase O tyrosine-protein kinase Blk|B lymphoid tyrosine kinase|BLK nonreceptor tyrosine kinase|b lymphocyte kinase|p55-Blk 20210912 - 9606 641 BLM - BS|MGRISCE1|RECQ2|RECQL2|RECQL3 MIM:604610|HGNC:HGNC:1058|Ensembl:ENSG00000197299 15 15q26.1 BLM RecQ like helicase protein-coding BLM BLM RecQ like helicase O Bloom syndrome protein|Bloom syndrome RecQ like helicase|Bloom syndrome, RecQ helicase-like|DNA helicase, RecQ-like type 2|recQ protein-like 3 20211016 - 9606 642 BLMH - BH|BMH MIM:602403|HGNC:HGNC:1059|Ensembl:ENSG00000108578 17 17q11.2 bleomycin hydrolase protein-coding BLMH bleomycin hydrolase O bleomycin hydrolase|BLM hydrolase 20210822 - 9606 643 CXCR5 - BLR1|CD185|MDR15 MIM:601613|HGNC:HGNC:1060|Ensembl:ENSG00000160683 11 11q23.3 C-X-C motif chemokine receptor 5 protein-coding CXCR5 C-X-C motif chemokine receptor 5 O C-X-C chemokine receptor type 5|Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)|Burkitt lymphoma receptor 1, GTP-binding protein|CXC-R5|CXCR-5|MDR-15|chemokine (C-X-C motif) receptor 5|monocyte-derived receptor 15 20211017 - 9606 644 BLVRA - BLVR|BVR|BVRA MIM:109750|HGNC:HGNC:1062|Ensembl:ENSG00000106605 7 7p13 biliverdin reductase A protein-coding BLVRA biliverdin reductase A O biliverdin reductase A|BVR A|biliverdin-IX alpha-reductase|testis tissue sperm-binding protein Li 61n 20211017 - 9606 645 BLVRB - BVRB|FLR|HEL-S-10|SDR43U1 MIM:600941|HGNC:HGNC:1063|Ensembl:ENSG00000090013 19 19q13.2 biliverdin reductase B protein-coding BLVRB biliverdin reductase B O flavin reductase (NADPH)|BVR-B|FR|GHBP|NADPH-dependent diaphorase|NADPH-flavin reductase|biliverdin-IX beta-reductase|epididymis secretory protein Li 10|green heme-binding protein|short chain dehydrogenase/reductase family 43U, member 1 20210708 - 9606 646 BNC1 - BNC|BSN1|HsT19447|POF16 MIM:601930|HGNC:HGNC:1081|Ensembl:ENSG00000169594 15 15q25.2 basonuclin 1 protein-coding BNC1 basonuclin 1 O zinc finger protein basonuclin-1 20211028 - 9606 648 BMI1 - FLVI2/BMI1|PCGF4|RNF51|flvi-2/bmi-1 MIM:164831|HGNC:HGNC:1066|Ensembl:ENSG00000168283 10 10p12.2 BMI1 proto-oncogene, polycomb ring finger protein-coding BMI1 BMI1 proto-oncogene, polycomb ring finger O polycomb complex protein BMI-1|B lymphoma Mo-MLV insertion region 1 homolog|BMI1 polycomb ring finger oncogene|BMI1 polycomb ring finger proto-oncogene|murine leukemia viral (bmi-1) oncogene homolog|polycomb group RING finger protein 4|polycomb group protein Bmi1|ring finger protein 51 20211028 - 9606 649 BMP1 - OI13|PCOLC|PCP|PCP2|TLD MIM:112264|HGNC:HGNC:1067|Ensembl:ENSG00000168487 8 8p21.3 bone morphogenetic protein 1 protein-coding BMP1 bone morphogenetic protein 1 O bone morphogenetic protein 1|mammalian tolloid protein|procollagen C-endopeptidase|procollagen C-proteinase 3|tolloid-like 20210919 - 9606 650 BMP2 - BDA2|BMP2A|SSFSC|SSFSC1 MIM:112261|HGNC:HGNC:1069|Ensembl:ENSG00000125845 20 20p12.3 bone morphogenetic protein 2 protein-coding BMP2 bone morphogenetic protein 2 O bone morphogenetic protein 2|bone morphogenetic protein 2A 20211031 - 9606 651 BMP3 - BMP-3A MIM:112263|HGNC:HGNC:1070|Ensembl:ENSG00000152785 4 4q21.21 bone morphogenetic protein 3 protein-coding BMP3 bone morphogenetic protein 3 O bone morphogenetic protein 3|bone morphogenetic protein 3 (osteogenic)|bone morphogenetic protein 3A|osteogenin 20210704 - 9606 652 BMP4 - BMP2B|BMP2B1|MCOPS6|OFC11|ZYME MIM:112262|HGNC:HGNC:1071|Ensembl:ENSG00000125378 14 14q22.2 bone morphogenetic protein 4 protein-coding BMP4 bone morphogenetic protein 4 O bone morphogenetic protein 4|bone morphogenetic protein 2B 20211031 - 9606 653 BMP5 - - MIM:112265|HGNC:HGNC:1072|Ensembl:ENSG00000112175 6 6p12.1 bone morphogenetic protein 5 protein-coding BMP5 bone morphogenetic protein 5 O bone morphogenetic protein 5 20210611 - 9606 654 BMP6 - VGR|VGR1 MIM:112266|HGNC:HGNC:1073|Ensembl:ENSG00000153162 6 6p24.3 bone morphogenetic protein 6 protein-coding BMP6 bone morphogenetic protein 6 O bone morphogenetic protein 6|VG-1-R|VG-1-related protein|vegetal related growth factor (TGFB-related) 20210905 - 9606 655 BMP7 - OP-1 MIM:112267|HGNC:HGNC:1074|Ensembl:ENSG00000101144 20 20q13.31 bone morphogenetic protein 7 protein-coding BMP7 bone morphogenetic protein 7 O bone morphogenetic protein 7|osteogenic protein 1 20210926 - 9606 656 BMP8B - BMP8|OP2 MIM:602284|HGNC:HGNC:1075|Ensembl:ENSG00000116985 1 1p34.2 bone morphogenetic protein 8b protein-coding BMP8B bone morphogenetic protein 8b O bone morphogenetic protein 8B|bone morphogenetic protein 8 (osteogenic protein 2)|osteogenic protein 2 20210926 - 9606 657 BMPR1A - 10q23del|ACVRLK3|ALK3|CD292|SKR5 MIM:601299|HGNC:HGNC:1076|Ensembl:ENSG00000107779 10 10q23.2 bone morphogenetic protein receptor type 1A protein-coding BMPR1A bone morphogenetic protein receptor type 1A O bone morphogenetic protein receptor type-1A|ALK-3|BMP type-1A receptor|BMPR-1A|activin A receptor, type II-like kinase 3|activin receptor-like kinase 3|bone morphogenetic protein receptor, type IA|serine/threonine-protein kinase receptor R5 20210926 - 9606 658 BMPR1B - ALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293 MIM:603248|HGNC:HGNC:1077|Ensembl:ENSG00000138696 4 4q22.3 bone morphogenetic protein receptor type 1B protein-coding BMPR1B bone morphogenetic protein receptor type 1B O bone morphogenetic protein receptor type-1B|BMP type-1B receptor|BMPR-1B|activin receptor-like kinase 6|bone morphogenetic protein receptor, type IB|serine/threonine receptor kinase 20211009 - 9606 659 BMPR2 - BMPR-II|BMPR3|BMR2|BRK-3|POVD1|PPH1|T-ALK MIM:600799|HGNC:HGNC:1078|Ensembl:ENSG00000204217 2 2q33.1-q33.2 bone morphogenetic protein receptor type 2 protein-coding BMPR2 bone morphogenetic protein receptor type 2 O bone morphogenetic protein receptor type-2|BMP type II receptor|BMP type-2 receptor|bone morphogenetic protein receptor type II|bone morphogenetic protein receptor, type II (serine/threonine kinase)|type II activin receptor-like kinase|type II receptor for bone morphogenetic protein-4 20211031 - 9606 660 BMX - ETK|PSCTK2|PSCTK3 MIM:300101|HGNC:HGNC:1079|Ensembl:ENSG00000102010 X Xp22.2 BMX non-receptor tyrosine kinase protein-coding BMX BMX non-receptor tyrosine kinase O cytoplasmic tyrosine-protein kinase BMX|BTK-like on X chromosome|Etk/Bmx cytosolic tyrosine kinase|NTK38 tyrosine kinase|bone marrow tyrosine kinase gene in chromosome X protein|epithelial and endothelial tyrosine kinase 20210802 - 9606 661 POLR3D - BN51T|C53|RPC4|RPC53|TSBN51 MIM:187280|HGNC:HGNC:1080|Ensembl:ENSG00000168495 8 8p21.3 RNA polymerase III subunit D protein-coding POLR3D RNA polymerase III subunit D O DNA-directed RNA polymerase III subunit RPC4|BN51 (BHK21) temperature sensitivity complementing|DNA-directed RNA polymerase III 47 kDa polypeptide|DNA-directed RNA polymerase III subunit D|RNA polymerase III 47 kDa subunit|RNA polymerase III subunit C4|RPC53 homolog|polymerase (RNA) III (DNA directed) polypeptide D, 44kDa|polymerase (RNA) III subunit D|temperature sensitive complementation, cell cycle specific, tsBN51 20210708 - 9606 662 BNIP1 - NIP1|SEC20|TRG-8 MIM:603291|HGNC:HGNC:1082|Ensembl:ENSG00000113734 5 5q35.1 BCL2 interacting protein 1 protein-coding BNIP1 BCL2 interacting protein 1 O vesicle transport protein SEC20|BCL2/adenovirus E1B 19 kDa protein-interacting protein 1|BCL2/adenovirus E1B 19kDa interacting protein 1|transformation-related gene 8 protein 20210708 - 9606 663 BNIP2 - BNIP-2|NIP2 MIM:603292|HGNC:HGNC:1083|Ensembl:ENSG00000140299 15 15q22.2 BCL2 interacting protein 2 protein-coding BNIP2 BCL2 interacting protein 2 O BCL2/adenovirus E1B 19 kDa protein-interacting protein 2|BCL2/adenovirus E1B 19kDa interacting protein 2 20210822 - 9606 664 BNIP3 - NIP3 MIM:603293|HGNC:HGNC:1084 10 10q26.3 BCL2 interacting protein 3 protein-coding BNIP3 BCL2 interacting protein 3 O BCL2/adenovirus E1B 19 kDa protein-interacting protein 3|BCL2/adenovirus E1B 19kDa interacting protein 3|BCL2/adenovirus E1B interacting protein 3|nineteen kD interacting protein-3 20210919 - 9606 665 BNIP3L - BNIP3a|NIX MIM:605368|HGNC:HGNC:1085|Ensembl:ENSG00000104765 8 8p21.2 BCL2 interacting protein 3 like protein-coding BNIP3L BCL2 interacting protein 3 like O BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like|BCL2/adenovirus E1B 19 kDa protein-interacting protein 3A|BCL2/adenovirus E1B 19-kd protein-interacting protein 3a|BCL2/adenovirus E1B 19kDa interacting protein 3 like|NIP-3-like protein X|NIP3-like protein X|NIP3L|adenovirus E1B19k-binding protein B5 20210711 - 9606 666 BOK - BCL2L9|BOKL MIM:605404|HGNC:HGNC:1087|Ensembl:ENSG00000176720 2 2q37.3 BCL2 family apoptosis regulator BOK protein-coding BOK BCL2 family apoptosis regulator BOK O bcl-2-related ovarian killer protein|BCL2 related ovarian killer|BOK, BCL2 family apoptosis regulator|bcl-2-like protein 9|bcl2-L-9|hBOK 20210711 - 9606 667 DST - BP240|BPA|BPAG1|CATX-15|CATX15|D6S1101|DMH|DT|EBS3|EBSB2|HSAN6|MACF2 MIM:113810|HGNC:HGNC:1090|Ensembl:ENSG00000151914 6 6p12.1 dystonin protein-coding DST dystonin O dystonin|bullous pemphigoid antigen|bullous pemphigoid antigen 1|dystonia musculorum protein|hemidesmosomal plaque protein|trabeculin-beta 20211031 - 9606 668 FOXL2 - BPES|BPES1|PFRK|PINTO|POF3 MIM:605597|HGNC:HGNC:1092|Ensembl:ENSG00000183770 3 3q22.3 forkhead box L2 protein-coding FOXL2 forkhead box L2 O forkhead box protein L2|forkhead transcription factor FOXL2 20211017 - 9606 669 BPGM - DPGM|ECYT8 MIM:613896|HGNC:HGNC:1093|Ensembl:ENSG00000172331 7 7q33 bisphosphoglycerate mutase protein-coding BPGM bisphosphoglycerate mutase O bisphosphoglycerate mutase|2,3-bisphosphoglycerate mutase, erythrocyte|2,3-bisphosphoglycerate synthase|2,3-diphosphoglycerate mutase|BPG-dependent PGAM|erythrocyte 2,3-bisphosphoglycerate mutase|testis secretory sperm-binding protein Li 202a 20210708 - 9606 670 BPHL - BPH-RP|MCNAA|VACVASE MIM:603156|HGNC:HGNC:1094|Ensembl:ENSG00000137274 6 6p25.2 biphenyl hydrolase like protein-coding BPHL biphenyl hydrolase like O valacyclovir hydrolase|biphenyl hydrolase-like (serine hydrolase)|biphenyl hydrolase-related protein|breast epithelial mucin-associated antigen|valacyclovirase 20210708 - 9606 671 BPI - BPIFD1|rBPI MIM:109195|HGNC:HGNC:1095|Ensembl:ENSG00000101425 20 20q11.23 bactericidal permeability increasing protein protein-coding BPI bactericidal permeability increasing protein O bactericidal permeability-increasing protein|BPI fold containing family D, member 1|CAP 57|recombinant BPI holoprotein, rBPI 20210708 - 9606 672 BRCA1 - BRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53 MIM:113705|HGNC:HGNC:1100|Ensembl:ENSG00000012048 17 17q21.31 BRCA1 DNA repair associated protein-coding BRCA1 BRCA1 DNA repair associated O breast cancer type 1 susceptibility protein|BRCA1/BRCA2-containing complex, subunit 1|Fanconi anemia, complementation group S|RING finger protein 53|breast and ovarian cancer susceptibility protein 1|breast cancer 1, early onset|early onset breast cancer 1|protein phosphatase 1, regulatory subunit 53 20211031 - 9606 673 BRAF - B-RAF1|B-raf|BRAF1|NS7|RAFB1 MIM:164757|HGNC:HGNC:1097|Ensembl:ENSG00000157764 7 7q34 B-Raf proto-oncogene, serine/threonine kinase protein-coding BRAF B-Raf proto-oncogene, serine/threonine kinase O serine/threonine-protein kinase B-raf|94 kDa B-raf protein|B-Raf proto-oncogene serine/threonine-protein kinase (p94)|B-Raf serine/threonine-protein|murine sarcoma viral (v-raf) oncogene homolog B1|proto-oncogene B-Raf|v-raf murine sarcoma viral oncogene homolog B|v-raf murine sarcoma viral oncogene homolog B1 20211031 - 9606 675 BRCA2 - BRCC2|BROVCA2|FACD|FAD|FAD1|FANCD|FANCD1|GLM3|PNCA2|XRCC11 MIM:600185|HGNC:HGNC:1101|Ensembl:ENSG00000139618 13 13q13.1 BRCA2 DNA repair associated protein-coding BRCA2 BRCA2 DNA repair associated O breast cancer type 2 susceptibility protein|BRCA1/BRCA2-containing complex, subunit 2|Fanconi anemia group D1 protein|breast and ovarian cancer susceptibility gene, early onset|breast and ovarian cancer susceptibility protein 2|breast cancer 2 tumor suppressor|breast cancer 2, early onset|mutant BRCA2|truncated BRCA2 DNA repair associated|truncated BRCA2 DNA repair-associated protein|truncated DNA repair-associated BRCA2|truncated DNA repair-associated protein|truncated breast cancer 2 20211101 - 9606 676 BRDT - BRD6|CT9|SPGF21 MIM:602144|HGNC:HGNC:1105|Ensembl:ENSG00000137948 1 1p22.1 bromodomain testis associated protein-coding BRDT bromodomain testis associated O bromodomain testis-specific protein|RING3-like protein|bromodomain, testis-specific|cancer/testis antigen 9 20211029 - 9606 677 ZFP36L1 - BRF1|Berg36|ERF-1|ERF1|RNF162B|TIS11B|cMG1 MIM:601064|HGNC:HGNC:1107|Ensembl:ENSG00000185650 14 14q24.1 ZFP36 ring finger protein like 1 protein-coding ZFP36L1 ZFP36 ring finger protein like 1 O mRNA decay activator protein ZFP36L1|EGF-response factor 1|TPA-induced sequence 11b|ZFP36-like 1|butyrate response factor 1|early response factor Berg36|zinc finger protein 36, C3H type-like 1|zinc finger protein 36, C3H1 type-like 1|zinc finger protein, C3H type, 36-like 1 20211017 - 9606 678 ZFP36L2 - BRF2|ERF-2|ERF2|RNF162C|TIS11D MIM:612053|HGNC:HGNC:1108|Ensembl:ENSG00000152518 2 2p21 ZFP36 ring finger protein like 2 protein-coding ZFP36L2 ZFP36 ring finger protein like 2 O mRNA decay activator protein ZFP36L2|EGF-response factor 2|TPA-induced sequence 11d|ZFP36-like 2|butyrate response factor 2 (EGF-response factor 2)|zinc finger protein 36, C3H type-like 1|zinc finger protein 36, C3H type-like 2|zinc finger protein 36, C3H1 type-like 2|zinc finger protein, C3H type, 36-like 2 20210704 - 9606 680 BRS3 - BB3|BB3R|BBR3 MIM:300107|HGNC:HGNC:1113|Ensembl:ENSG00000102239 X Xq26.3 bombesin receptor subtype 3 protein-coding BRS3 bombesin receptor subtype 3 O bombesin receptor subtype-3|BRS-3|G-protein coupled receptor|bombesin like receptor 3 20210611 - 9606 682 BSG - 5F7|CD147|EMMPRIN|EMPRIN|HAb18G|OK|TCSF MIM:109480|HGNC:HGNC:1116|Ensembl:ENSG00000172270 19 19p13.3 basigin (Ok blood group) protein-coding BSG basigin (Ok blood group) O basigin|OK blood group antigen|collagenase stimulatory factor|extracellular matrix metalloproteinase inducer|hepatoma-associated antigen|leukocyte activation antigen M6|tumor cell-derived collagenase stimulatory factor 20211104 - 9606 683 BST1 - CD157 MIM:600387|HGNC:HGNC:1118|Ensembl:ENSG00000109743 4 4p15.32 bone marrow stromal cell antigen 1 protein-coding BST1 bone marrow stromal cell antigen 1 O ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2|ADP-ribosyl cyclase 2|NAD(+) nucleosidase|bone marrow stromal antigen 1|bone marrow stromal cell antigen 1 variant 2|cADPr hydrolase 2|cyclic ADP-ribose hydrolase 2 20210708 - 9606 684 BST2 - CD317|HM1.24|TETHERIN MIM:600534|HGNC:HGNC:1119|Ensembl:ENSG00000130303 19 19p13.11 bone marrow stromal cell antigen 2 protein-coding BST2 bone marrow stromal cell antigen 2 O bone marrow stromal antigen 2|BST-2|HM1.24 antigen|NPC-A-7|antiviral factor tetherin 20211026 - 9606 685 BTC - - MIM:600345|HGNC:HGNC:1121|Ensembl:ENSG00000174808 4 4q13.3 betacellulin protein-coding BTC betacellulin O probetacellulin 20210708 - 9606 686 BTD - - MIM:609019|HGNC:HGNC:1122|Ensembl:ENSG00000169814 3 3p25.1 biotinidase protein-coding BTD biotinidase O biotinidase|biotinase 20210912 - 9606 687 KLF9 - BTEB|BTEB1 MIM:602902|HGNC:HGNC:1123|Ensembl:ENSG00000119138 9 9q21.12 Kruppel like factor 9 protein-coding KLF9 Kruppel like factor 9 O Krueppel-like factor 9|BTE-binding protein 1|GC-box-binding protein 1|basic transcription element-binding protein 1|transcription factor BTEB1 20211017 - 9606 688 KLF5 - BTEB2|CKLF|IKLF MIM:602903|HGNC:HGNC:6349|Ensembl:ENSG00000102554 13 13q22.1 Kruppel like factor 5 protein-coding KLF5 Kruppel like factor 5 O Krueppel-like factor 5|(intestinal Kruppel-like factor|BTE-binding protein 2|GC box binding protein 2|Kruppel-like factor 5 (intestinal)|basic transcription element binding protein 2|colon krueppel-like factor|colon kruppel-like factor|epididymis secretory sperm binding protein|intestinal-enriched krueppel-like factor|intestinal-enriched kruppel-like factor|transcription factor BTEB2 20211003 - 9606 689 BTF3 - BETA-NAC|BTF3a|BTF3b|NACB MIM:602542|HGNC:HGNC:1125|Ensembl:ENSG00000145741 5 5q13.2 basic transcription factor 3 protein-coding BTF3 basic transcription factor 3 O transcription factor BTF3|NAC-beta|RNA polymerase B transcription factor 3|nascent polypeptide-associated complex subunit beta|nascent-polypeptide-associated complex beta polypeptide 20211003 - 9606 690 BTF3P11 - BRF3L1|BTF3L1|HUMBTFB|OCIF|OPG|TNFRSF11B MIM:602543|HGNC:HGNC:1126 13 13q22.3 basic transcription factor 3 pseudogene 11 pseudo BTF3P11 basic transcription factor 3 pseudogene 11 O BTF3 homologue|basic transcription factor 3, like 1|basic transcription factor 3-like 1, pseudogene|lambda h27A 20210724 - 9606 693 BTF3P1 - HUMBTFA HGNC:HGNC:1129 8 8q11.23 BTF3 pseudogene 1 pseudo BTF3P1 BTF3 pseudogene 1 O basic transcription factor 3, pseudogene 1|lambda h16 20210611 - 9606 694 BTG1 - APRO2 MIM:109580|HGNC:HGNC:1130|Ensembl:ENSG00000133639 12 12q21.33 BTG anti-proliferation factor 1 protein-coding BTG1 BTG anti-proliferation factor 1 O protein BTG1|B-cell translocation gene 1 protein|B-cell translocation gene 1, anti-proliferative 20210611 - 9606 695 BTK - AGMX1|AT|ATK|BPK|IGHD3|IMD1|PSCTK1|XLA MIM:300300|HGNC:HGNC:1133|Ensembl:ENSG00000010671 X Xq22.1 Bruton tyrosine kinase protein-coding BTK Bruton tyrosine kinase O tyrosine-protein kinase BTK|B-cell progenitor kinase|Bruton agammaglobulinemia tyrosine kinase|Bruton's tyrosine kinase|agammaglobulinaemia tyrosine kinase|dominant-negative kinase-deficient Brutons tyrosine kinase|truncated Bruton agammaglobulinemia tyrosine kinase 20210919 - 9606 696 BTN1A1 - BT|BTN|BTN1 MIM:601610|HGNC:HGNC:1135|Ensembl:ENSG00000124557 6 6p22.2 butyrophilin subfamily 1 member A1 protein-coding BTN1A1 butyrophilin subfamily 1 member A1 O butyrophilin subfamily 1 member A1|bK14H9.2 (butyrophilin, subfamily 1, member A1) 20210708 - 9606 699 BUB1 - BUB1A|BUB1L|hBUB1 MIM:602452|HGNC:HGNC:1148|Ensembl:ENSG00000169679 2 2q13 BUB1 mitotic checkpoint serine/threonine kinase protein-coding BUB1 BUB1 mitotic checkpoint serine/threonine kinase O mitotic checkpoint serine/threonine-protein kinase BUB1|BUB1 budding uninhibited by benzimidazoles 1 homolog|budding uninhibited by benzimidazoles 1 homolog|mitotic spindle checkpoint kinase|putative serine/threonine-protein kinase 20211028 - 9606 700 BVR1 - - HGNC:HGNC:1153 8 8q24 Burkitt lymphoma variant rearranging region 1 other BVR1 Burkitt lymphoma variant rearranging region 1 O - 20191011 - 9606 701 BUB1B - BUB1beta|BUBR1|Bub1A|MAD3L|MVA1|SSK1|hBUBR1 MIM:602860|HGNC:HGNC:1149|Ensembl:ENSG00000156970 15 15q15.1 BUB1 mitotic checkpoint serine/threonine kinase B protein-coding BUB1B BUB1 mitotic checkpoint serine/threonine kinase B O mitotic checkpoint serine/threonine-protein kinase BUB1 beta|BUB1B, mitotic checkpoint serine/threonine kinase|MAD3/BUB1-related protein kinase|budding uninhibited by benzimidazoles 1 homolog beta|mitotic checkpoint kinase MAD3L 20211028 - 9606 705 BYSL - BYSTIN|Enp1 MIM:603871|HGNC:HGNC:1157|Ensembl:ENSG00000112578 6 6p21.1 bystin like protein-coding BYSL bystin like O bystin|by the ribosomal protein s6 gene, drosophila, homolog-like 20210905 - 9606 706 TSPO - BPBS|BZRP|DBI|IBP|MBR|PBR|PBS|PKBS|PTBR|mDRC|pk18 MIM:109610|HGNC:HGNC:1158|Ensembl:ENSG00000100300 22 22q13.2 translocator protein protein-coding TSPO translocator protein O translocator protein|benzodiazepine peripheral binding site|mitochondrial benzodiazepine receptor|peripheral-type benzodiazepine receptor 20211003 - 9606 708 C1QBP - COXPD33|GC1QBP|HABP1|SF2AP32|SF2p32|gC1Q-R|gC1qR|p32 MIM:601269|HGNC:HGNC:1243|Ensembl:ENSG00000108561 17 17p13.2 complement C1q binding protein protein-coding C1QBP complement C1q binding protein O complement component 1 Q subcomponent-binding protein, mitochondrial|ASF/SF2-associated protein p32|C1q globular domain-binding protein|complement component 1, q subcomponent binding protein|glycoprotein gC1qBP|hyaluronan-binding protein 1|mitochondrial matrix protein p32|p33|splicing factor SF2-associated protein 20210905 - 9606 710 SERPING1 - C1IN|C1INH|C1NH|HAE1|HAE2 MIM:606860|HGNC:HGNC:1228|Ensembl:ENSG00000149131 11 11q12.1 serpin family G member 1 protein-coding SERPING1 serpin family G member 1 O plasma protease C1 inhibitor|C1 esterase inhibitor|C1-inhibiting factor|C1-inhibitor|complement component 1 inhibitor|epididymis secretory sperm binding protein|serine/cysteine proteinase inhibitor clade G member 1|serpin G1|serpin peptidase inhibitor clade G member 1|serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 20211031 - 9606 711 ERC2-IT1 - C1orf1|C3orf51|Po42 HGNC:HGNC:1229|Ensembl:ENSG00000281708 3 3p14.3 ERC2 intronic transcript 1 ncRNA ERC2-IT1 ERC2 intronic transcript 1 O ERC2 intronic transcript 1 (non-protein coding) 20210716 - 9606 712 C1QA - - MIM:120550|HGNC:HGNC:1241|Ensembl:ENSG00000173372 1 1p36.12 complement C1q A chain protein-coding C1QA complement C1q A chain O complement C1q subcomponent subunit A|complement C1q chain A|complement component 1, q subcomponent, A chain|complement component 1, q subcomponent, alpha polypeptide|complement component C1q, A chain 20210802 - 9606 713 C1QB - - MIM:120570|HGNC:HGNC:1242|Ensembl:ENSG00000173369 1 1p36.12 complement C1q B chain protein-coding C1QB complement C1q B chain O complement C1q subcomponent subunit B|complement C1q chain B|complement component 1, q subcomponent, B chain|complement component 1, q subcomponent, beta polypeptide|complement component C1q, B chain|complement subcomponent C1q chain B 20210708 - 9606 714 C1QC - C1Q-C|C1QG MIM:120575|HGNC:HGNC:1245|Ensembl:ENSG00000159189 1 1p36.12 complement C1q C chain protein-coding C1QC complement C1q C chain O complement C1q subcomponent subunit C|complement component 1, q subcomponent, C chain|complement component 1, q subcomponent, gamma polypeptide 20210708 - 9606 715 C1R - EDSPD1 MIM:613785|HGNC:HGNC:1246|Ensembl:ENSG00000159403 12 12p13.31 complement C1r protein-coding C1R complement C1r O complement C1r subcomponent|complement component 1, r subcomponent 20210807 - 9606 716 C1S - EDSPD2 MIM:120580|HGNC:HGNC:1247|Ensembl:ENSG00000182326 12 12p13.31 complement C1s protein-coding C1S complement C1s O complement C1s subcomponent|C1 esterase|basic proline-rich peptide IB-1|complement component 1 subcomponent s|complement component 1, s subcomponent 20210807 - 9606 717 C2 - ARMD14|CO2 MIM:613927|HGNC:HGNC:1248|Ensembl:ENSG00000166278 6 6p21.33 complement C2 protein-coding C2 complement C2 O complement C2|C3/C5 convertase|complement component 2|complement component C2 20210708 - 9606 718 C3 - AHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62p MIM:120700|HGNC:HGNC:1318|Ensembl:ENSG00000125730 19 19p13.3 complement C3 protein-coding C3 complement C3 O complement C3|C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1|C3a anaphylatoxin|acylation-stimulating protein cleavage product|complement component 3|complement component C3a|complement component C3b|epididymis secretory sperm binding protein Li 62p|prepro-C3 20211003 - 9606 719 C3AR1 - AZ3B|C3AR|HNFAG09 MIM:605246|HGNC:HGNC:1319|Ensembl:ENSG00000171860 12 12p13.31 complement C3a receptor 1 protein-coding C3AR1 complement C3a receptor 1 O C3a anaphylatoxin chemotactic receptor|complement component 3 receptor 1|complement component 3a receptor 1 20210919 - 9606 720 C4A - C4|C4A2|C4A3|C4A4|C4A6|C4AD|C4S|CO4|CPAMD2|RG MIM:120810|HGNC:HGNC:1323|Ensembl:ENSG00000244731 6 6p21.33 complement C4A (Rodgers blood group) protein-coding C4A complement C4A (Rodgers blood group) O complement C4-A|C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2|C4A anaphylatoxin|MHC class III region complement|Rodgers form of C4|acidic C4|acidic complement C4|complement component 4A (Rodgers blood group) 20211017 - 9606 721 C4B - C4B1|C4B12|C4B2|C4B3|C4B5|C4BD|C4B_2|C4F|CH|CO4|CPAMD3 MIM:120820|HGNC:HGNC:1324|Ensembl:ENSG00000224389 6 6p21.33 complement C4B (Chido blood group) protein-coding C4B complement C4B (Chido blood group) O complement C4-B|C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3|Chido form of C4|basic complement C4|complement C4B1a|complement component 4B (Chido blood group) 20211021 - 9606 722 C4BPA - C4BP|PRP MIM:120830|HGNC:HGNC:1325|Ensembl:ENSG00000123838 1 1q32.2 complement component 4 binding protein alpha protein-coding C4BPA complement component 4 binding protein alpha O C4b-binding protein alpha chain|proline-rich protein 20210708 - 9606 724 C4BPAP2 - C4BPAL2 HGNC:HGNC:1327|Ensembl:ENSG00000232621 1 1q32.2 C4BPA pseudogene 2 pseudo C4BPAP2 C4BPA pseudogene 2 O complement component 4 binding protein, alpha pseudogene 2|complement component 4 binding protein, alpha-like 2 20210611 - 9606 725 C4BPB - C4BP MIM:120831|HGNC:HGNC:1328|Ensembl:ENSG00000123843 1 1q32.1 complement component 4 binding protein beta protein-coding C4BPB complement component 4 binding protein beta O C4b-binding protein beta chain 20210708 - 9606 726 CAPN5 - ADNIV|HTRA3|VRNI|nCL-3 MIM:602537|HGNC:HGNC:1482|Ensembl:ENSG00000149260 11 11q13.5 calpain 5 protein-coding CAPN5 calpain 5 O calpain-5|calpain htra-3|new calpain 3|testis tissue sperm-binding protein Li 91mP 20211003 - 9606 727 C5 - C5D|C5a|C5b|CPAMD4|ECLZB MIM:120900|HGNC:HGNC:1331|Ensembl:ENSG00000106804 9 9q33.2 complement C5 protein-coding C5 complement C5 O complement C5|C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4|C5a anaphylatoxin|anaphylatoxin C5a analog|complement component 5|prepro-C5 20211003 - 9606 728 C5AR1 - C5A|C5AR|C5R1|CD88 MIM:113995|HGNC:HGNC:1338|Ensembl:ENSG00000197405 19 19q13.32 complement C5a receptor 1 protein-coding C5AR1 complement C5a receptor 1 O C5a anaphylatoxin chemotactic receptor 1|C5a anaphylatoxin receptor|C5a ligand|C5a-R|complement component 5a receptor 1 20211003 - 9606 729 C6 - - MIM:217050|HGNC:HGNC:1339|Ensembl:ENSG00000039537 5 5p13.1 complement C6 protein-coding C6 complement C6 O complement component C6|complement component 6 20211016 - 9606 730 C7 - - MIM:217070|HGNC:HGNC:1346|Ensembl:ENSG00000112936 5 5p13.1 complement C7 protein-coding C7 complement C7 O complement component C7|complement component 7 20210708 - 9606 731 C8A - - MIM:120950|HGNC:HGNC:1352|Ensembl:ENSG00000157131 1 1p32.2 complement C8 alpha chain protein-coding C8A complement C8 alpha chain O complement component C8 alpha chain|complement component 8 alpha subunit|complement component 8 subunit alpha|complement component 8, alpha polypeptide 20210708 - 9606 732 C8B - C82 MIM:120960|HGNC:HGNC:1353|Ensembl:ENSG00000021852 1 1p32.2 complement C8 beta chain protein-coding C8B complement C8 beta chain O complement component C8 beta chain|complement component 8 subunit beta|complement component 8, beta polypeptide 20210708 - 9606 733 C8G - C8C MIM:120930|HGNC:HGNC:1354|Ensembl:ENSG00000176919 9 9q34.3 complement C8 gamma chain protein-coding C8G complement C8 gamma chain O complement component C8 gamma chain|complement component 8, gamma polypeptide 20210708 - 9606 734 OSGIN2 - C8orf1|hT41 MIM:604598|HGNC:HGNC:1355|Ensembl:ENSG00000164823 8 8q21.3 oxidative stress induced growth inhibitor family member 2 protein-coding OSGIN2 oxidative stress induced growth inhibitor family member 2 O oxidative stress-induced growth inhibitor 2 20210611 - 9606 735 C9 - ARMD15|C9D MIM:120940|HGNC:HGNC:1358|Ensembl:ENSG00000113600 5 5p13.1 complement C9 protein-coding C9 complement C9 O complement component C9|complement component 9 20210905 - 9606 738 VPS51 - ANG2|ANG3|C11orf2|C11orf3|FFR|PCH13 MIM:615738|HGNC:HGNC:1172|Ensembl:ENSG00000149823 11 11q13.1 VPS51 subunit of GARP complex protein-coding VPS51 VPS51 subunit of GARP complex O vacuolar protein sorting-associated protein 51 homolog|VPS51, GARP complex subunit|another new gene 2 protein|protein fat-free homolog|vacuolar protein sorting 51 homolog 20210905 - 9606 740 MRPL49 - C11orf4|L49mt|MRP-L49|NOF|NOF1 MIM:606866|HGNC:HGNC:1176|Ensembl:ENSG00000149792 11 11q13.1 mitochondrial ribosomal protein L49 protein-coding MRPL49 mitochondrial ribosomal protein L49 O 39S ribosomal protein L49, mitochondrial|mitochondrial large ribosomal subunit protein mL49|neighbor of FAU|next to FAU 20210808 - 9606 741 ZNHIT2 - C11orf5|FON MIM:604575|HGNC:HGNC:1177|Ensembl:ENSG00000174276 11 11q13.1 zinc finger HIT-type containing 2 protein-coding ZNHIT2 zinc finger HIT-type containing 2 O zinc finger HIT domain-containing protein 2|zinc finger, HIT domain containing 2|zinc finger, HIT type 2 20210704 - 9606 744 MPPED2 - 239FB|C11orf8 MIM:600911|HGNC:HGNC:1180|Ensembl:ENSG00000066382 11 11p14.1 metallophosphoesterase domain containing 2 protein-coding MPPED2 metallophosphoesterase domain containing 2 O metallophosphoesterase MPPED2|fetal brain protein 239|metallophosphoesterase domain-containing protein 2 20210611 - 9606 745 MYRF - 11orf9|C11orf9|CUGS|MMERV|MRF|Ndt80|pqn-47 MIM:608329|HGNC:HGNC:1181|Ensembl:ENSG00000124920 11 11q12.2 myelin regulatory factor protein-coding MYRF myelin regulatory factor O myelin regulatory factor|myelin gene regulatory factor 20211017 - 9606 746 TMEM258 - C11orf10|Kud|Kuduk MIM:617615|HGNC:HGNC:1164|Ensembl:ENSG00000134825 11 11q12.2 transmembrane protein 258 protein-coding TMEM258 transmembrane protein 258 O transmembrane protein 258|UPF0197 transmembrane protein C11orf10|dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TMEM258|oligosaccharyl transferase subunit TMEM258 20210704 - 9606 747 DAGLA - C11orf11|DAGL(ALPHA)|DAGLALPHA|NSDDR MIM:614015|HGNC:HGNC:1165|Ensembl:ENSG00000134780 11 11q12.2 diacylglycerol lipase alpha protein-coding DAGLA diacylglycerol lipase alpha O diacylglycerol lipase-alpha|DAGL-alpha|DGL-alpha|neural stem cell-derived dendrite regulator|sn1-specific diacylglycerol lipase alpha 20210905 - 9606 750 GAS8-AS1 - C16orf3 MIM:605179|HGNC:HGNC:1197|Ensembl:ENSG00000221819 16 16q24.3 GAS8 antisense RNA 1 ncRNA GAS8-AS1 GAS8 antisense RNA 1 O uncharacterized protein C16orf3 20210802 - 9606 752 FMNL1 - C17orf1|C17orf1B|FHOD4|FMNL|KW-13 MIM:604656|HGNC:HGNC:1212|Ensembl:ENSG00000184922 17 17q21.31 formin like 1 protein-coding FMNL1 formin like 1 O formin-like protein 1|CLL-associated antigen KW-13|leukocyte formin 20210611 - 9606 753 LDLRAD4 - C18orf1 MIM:606571|HGNC:HGNC:1224|Ensembl:ENSG00000168675 18 18p11.21 low density lipoprotein receptor class A domain containing 4 protein-coding LDLRAD4 low density lipoprotein receptor class A domain containing 4 O low-density lipoprotein receptor class A domain-containing protein 4|clone 22 20210906 - 9606 754 PTTG1IP - C21orf1|C21orf3|PBF MIM:603784|HGNC:HGNC:13524|Ensembl:ENSG00000183255 21 21q22.3 PTTG1 interacting protein protein-coding PTTG1IP PTTG1 interacting protein O pituitary tumor-transforming gene 1 protein-interacting protein|PTTG-binding factor|pituitary tumor-transforming 1 interacting protein|pituitary tumor-transforming gene protein-binding factor 20210611 - 9606 755 CFAP410 - C21orf2|LRRC76|RDMS|SMDAX|YF5/A2 MIM:603191|HGNC:HGNC:1260|Ensembl:ENSG00000160226 21 21q22.3 cilia and flagella associated protein 410 protein-coding CFAP410 cilia and flagella associated protein 410 O cilia- and flagella-associated protein 410|nuclear encoded mitochondrial protein C21orf2|C21orf-HUMF09G8.5|leucine rich repeat containing 76|leucine-rich repeat-containing protein 76|protein C21orf2 20211028 - 9606 757 TMEM50B - C21orf4|HCVP7TP3 MIM:617894|HGNC:HGNC:1280|Ensembl:ENSG00000142188 21 21q22.11 transmembrane protein 50B protein-coding TMEM50B transmembrane protein 50B O transmembrane protein 50B|HCV p7-trans-regulated protein 3|HCV p7-transregulated protein 3 20210611 - 9606 758 MPPED1 - 239AB|C22orf1|FAM1A MIM:602112|HGNC:HGNC:1306|Ensembl:ENSG00000186732 22 22q13.2 metallophosphoesterase domain containing 1 protein-coding MPPED1 metallophosphoesterase domain containing 1 O metallophosphoesterase domain-containing protein 1|adult brain protein 239 20210611 - 9606 759 CA1 - CA-I|CAB|Car1|HEL-S-11 MIM:114800|HGNC:HGNC:1368|Ensembl:ENSG00000133742 8 8q21.2 carbonic anhydrase 1 protein-coding CA1 carbonic anhydrase 1 O carbonic anhydrase 1|carbonate dehydratase I|carbonic anhydrase B|carbonic anhydrase I|epididymis secretory protein Li 11|epididymis secretory sperm binding protein 20210731 - 9606 760 CA2 - CA-II|CAC|CAII|Car2|HEL-76|HEL-S-282 MIM:611492|HGNC:HGNC:1373|Ensembl:ENSG00000104267 8 8q21.2 carbonic anhydrase 2 protein-coding CA2 carbonic anhydrase 2 O carbonic anhydrase 2|carbonate dehydratase II|carbonic anhydrase B|carbonic anhydrase C|carbonic anhydrase II|carbonic dehydratase|epididymis luminal protein 76|epididymis secretory protein Li 282 20211031 - 9606 761 CA3 - CAIII|Car3 MIM:114750|HGNC:HGNC:1374|Ensembl:ENSG00000164879 8 8q21.2 carbonic anhydrase 3 protein-coding CA3 carbonic anhydrase 3 O carbonic anhydrase 3|CA-III|HEL-S-167mP|carbonate dehydratase III|carbonic anhydrase III, muscle specific|carbonic anhydrase IIII|epididymis secretory sperm binding protein Li 167mP 20210708 - 9606 762 CA4 - CAIV|Car4|RP17 MIM:114760|HGNC:HGNC:1375|Ensembl:ENSG00000167434 17 17q23.1 carbonic anhydrase 4 protein-coding CA4 carbonic anhydrase 4 O carbonic anhydrase 4|CA-IV|carbonate dehydratase IV|carbonic anhydrase IV|carbonic dehydratase IV 20210708 - 9606 763 CA5A - CA5|CA5AD|CAV|CAVA|GS1-21A4.1 MIM:114761|HGNC:HGNC:1377|Ensembl:ENSG00000174990 16 16q24.2 carbonic anhydrase 5A protein-coding CA5A carbonic anhydrase 5A O carbonic anhydrase 5A, mitochondrial|CA-VA|carbonate dehydratase VA|carbonic anhydrase V, mitochondrial|carbonic anhydrase VA, mitochondrial|carbonic dehydratase 20210708 - 9606 764 CA5AP1 - CA5P HGNC:HGNC:1379|Ensembl:ENSG00000260133 16 16p11.2 carbonic anhydrase 5A pseudogene 1 pseudo CA5AP1 carbonic anhydrase 5A pseudogene 1 O carbonic anhydrase V pseudogene|carbonic anhydrase VA pseudogene 1 20210611 - 9606 765 CA6 - CA-VI|GUSTIN MIM:114780|HGNC:HGNC:1380|Ensembl:ENSG00000131686 1 1p36.23 carbonic anhydrase 6 protein-coding CA6 carbonic anhydrase 6 O carbonic anhydrase 6|carbonate dehydratase VI|carbonic anhydrase VI nirs variant 2|salivary carbonic anhydrase|secreted carbonic anhydrase 20210708 - 9606 766 CA7 - CA-VII|CAVII MIM:114770|HGNC:HGNC:1381|Ensembl:ENSG00000168748 16 16q22.1 carbonic anhydrase 7 protein-coding CA7 carbonic anhydrase 7 O carbonic anhydrase 7|carbonate dehydratase VII|carbonic anhydrase VII|carbonic dehydratase VII 20210708 - 9606 767 CA8 - CA-RP|CA-VIII|CALS|CAMRQ3|CARP MIM:114815|HGNC:HGNC:1382|Ensembl:ENSG00000178538 8 8q12.1 carbonic anhydrase 8 protein-coding CA8 carbonic anhydrase 8 O carbonic anhydrase-related protein|CA-related protein|carbonate dehydratase|carbonic anhydrase VIII|carbonic anhydrase-like sequence 20210822 - 9606 768 CA9 - CAIX|MN MIM:603179|HGNC:HGNC:1383|Ensembl:ENSG00000107159 9 9p13.3 carbonic anhydrase 9 protein-coding CA9 carbonic anhydrase 9 O carbonic anhydrase 9|CA-IX|P54/58N|RCC-associated antigen G250|RCC-associated protein G250|carbonate dehydratase IX|carbonic anhydrase IX|carbonic dehydratase|membrane antigen MN|pMW1|renal cell carcinoma-associated antigen G250 20211003 - 9606 770 CA11 - CA-RP|CA-RP II|CA-XI|CARP-2|CARPX1 MIM:604644|HGNC:HGNC:1370|Ensembl:ENSG00000063180 19 19q13.33 carbonic anhydrase 11 protein-coding CA11 carbonic anhydrase 11 O carbonic anhydrase-related protein 11|carbonic anhydrase XI|carbonic anhydrase-related protein 2|carbonic anhydrase-related protein XI 20210704 - 9606 771 CA12 - CA-XII|CAXII|HsT18816|T18816 MIM:603263|HGNC:HGNC:1371|Ensembl:ENSG00000074410 15 15q22.2 carbonic anhydrase 12 protein-coding CA12 carbonic anhydrase 12 O carbonic anhydrase 12|carbonate dehydratase XII|carbonic anhydrase XII|carbonic dehydratase|tumor antigen HOM-RCC-3.1.3 20210708 - 9606 772 CACD - - MIM:215500 17 17p13 central areolar choroidal dystrophy unknown - - - - 20191002 - 9606 773 CACNA1A - APCA|BI|CACNL1A4|CAV2.1|DEE42|EA2|EIEE42|FHM|HPCA|MHP|MHP1|SCA6 MIM:601011|HGNC:HGNC:1388|Ensembl:ENSG00000141837 19 19p13.13 calcium voltage-gated channel subunit alpha1 A protein-coding CACNA1A calcium voltage-gated channel subunit alpha1 A O voltage-dependent P/Q-type calcium channel subunit alpha-1A|brain calcium channel 1|brain calcium channel I|calcium channel, L type, alpha-1 polypeptide|calcium channel, voltage-dependent, P/Q type, alpha 1A subunit|fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit|voltage-gated calcium channel subunit alpha Cav2.1 20211017 - 9606 774 CACNA1B - BIII|CACNL1A5|CACNN|Cav2.2|DYT23|NEDNEH MIM:601012|HGNC:HGNC:1389|Ensembl:ENSG00000148408 9 9q34.3 calcium voltage-gated channel subunit alpha1 B protein-coding CACNA1B calcium voltage-gated channel subunit alpha1 B O voltage-dependent N-type calcium channel subunit alpha-1B|Cav2.2 voltage-gated Ca2+ channel|brain calcium channel III|calcium channel alpha12.2 subunit|calcium channel, L type, alpha-1 polypeptide|calcium channel, voltage-dependent, L type, alpha 1B subunit|calcium channel, voltage-dependent, N type, alpha 1B subunit|voltage-gated calcium channel alpha subunit Cav2.2|voltage-gated calcium channel subunit alpha Cav2.2 20211009 - 9606 775 CACNA1C - CACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|LQT8|TS|TS. LQT8 MIM:114205|HGNC:HGNC:1390|Ensembl:ENSG00000151067 12 12p13.33 calcium voltage-gated channel subunit alpha1 C protein-coding CACNA1C calcium voltage-gated channel subunit alpha1 C O voltage-dependent L-type calcium channel subunit alpha-1C|DHPR, alpha-1 subunit|calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit|calcium channel, voltage-dependent, L type, alpha 1C subunit|voltage-dependent L-type Ca2+ channel alpha 1 subunit|voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10* 20211031 - 9606 776 CACNA1D - CACH3|CACN4|CACNL1A2|CCHL1A2|Cav1.3|PASNA|SANDD MIM:114206|HGNC:HGNC:1391|Ensembl:ENSG00000157388 3 3p21.1 calcium voltage-gated channel subunit alpha1 D protein-coding CACNA1D calcium voltage-gated channel subunit alpha1 D O voltage-dependent L-type calcium channel subunit alpha-1D|calcium channel, L type, alpha-1 polypeptide|calcium channel, neuroendocrine/brain-type, alpha 1 subunit|calcium channel, voltage-dependent, L type, alpha 1D subunit|voltage-gated calcium channel alpha 1 subunit|voltage-gated calcium channel alpha subunit Cav1.3 20210906 - 9606 777 CACNA1E - BII|CACH6|CACNL1A6|Cav2.3|DEE69|EIEE69|gm139 MIM:601013|HGNC:HGNC:1392|Ensembl:ENSG00000198216 1 1q25.3 calcium voltage-gated channel subunit alpha1 E protein-coding CACNA1E calcium voltage-gated channel subunit alpha1 E O voltage-dependent R-type calcium channel subunit alpha-1E|brain calcium channel II|calcium channel, L type, alpha-1 polypeptide|calcium channel, R type, alpha-1 polypeptide|voltage-dependent calcium channel alpha 1E subunit|voltage-gated calcium channel alpha subunit Cav2.3 20210822 - 9606 778 CACNA1F - AIED|COD3|COD4|CORDX|CORDX3|CSNB2|CSNB2A|CSNBX2|Cav1.4|Cav1.4alpha1|JM8|JMC8|OA2 MIM:300110|HGNC:HGNC:1393|Ensembl:ENSG00000102001 X Xp11.23 calcium voltage-gated channel subunit alpha1 F protein-coding CACNA1F calcium voltage-gated channel subunit alpha1 F O voltage-dependent L-type calcium channel subunit alpha-1F|calcium channel, voltage-dependent, L type, alpha 1F subunit|voltage-gated calcium channel subunit alpha Cav1.4 20211002 - 9606 779 CACNA1S - CACNL1A3|CCHL1A3|Cav1.1|HOKPP|HOKPP1|MHS5|TTPP1|hypoPP MIM:114208|HGNC:HGNC:1397|Ensembl:ENSG00000081248 1 1q32.1 calcium voltage-gated channel subunit alpha1 S protein-coding CACNA1S calcium voltage-gated channel subunit alpha1 S O voltage-dependent L-type calcium channel subunit alpha-1S|calcium channel, voltage-dependent, L type, alpha 1S subunit|dihydropyridine receptor alpha 1 subunit|dihydropyridine-sensitive L-type calcium channel alpha-1 subunit|voltage-gated calcium channel subunit alpha Cav1.1 20211031 - 9606 780 DDR1 - CAK|CD167|DDR|EDDR1|HGK2|MCK10|NEP|NTRK4|PTK3|PTK3A|RTK6|TRKE MIM:600408|HGNC:HGNC:2730|Ensembl:ENSG00000204580 6 6p21.33 discoidin domain receptor tyrosine kinase 1 protein-coding DDR1 discoidin domain receptor tyrosine kinase 1 O epithelial discoidin domain-containing receptor 1|CD167 antigen-like family member A|PTK3A protein tyrosine kinase 3A|cell adhesion kinase|mammary carcinoma kinase 10|neuroepithelial tyrosine kinase|neurotrophic tyrosine kinase, receptor, type 4|protein-tyrosine kinase RTK-6|tyrosine kinase DDR|tyrosine-protein kinase CAK 20211017 - 9606 781 CACNA2D1 - CACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3 MIM:114204|HGNC:HGNC:1399|Ensembl:ENSG00000153956 7 7q21.11 calcium voltage-gated channel auxiliary subunit alpha2delta 1 protein-coding CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 O voltage-dependent calcium channel subunit alpha-2/delta-1|calcium channel, L type, alpha 2 polypeptide|calcium channel, voltage-dependent, alpha 2/delta subunit 1|dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit|voltage-gated calcium channel subunit alpha-2/delta-1 20211023 - 9606 782 CACNB1 - CAB1|CACNLB1|CCHLB1 MIM:114207|HGNC:HGNC:1401|Ensembl:ENSG00000067191 17 17q12 calcium voltage-gated channel auxiliary subunit beta 1 protein-coding CACNB1 calcium voltage-gated channel auxiliary subunit beta 1 O voltage-dependent L-type calcium channel subunit beta-1|calcium channel voltage-dependent subunit beta 1|calcium channel, L type, beta 1 polypeptide|calcium channel, voltage-dependent, beta 1 subunit|dihydropyridine-sensitive L-type, calcium channel beta-1 subunit 20210708 - 9606 783 CACNB2 - CAB2|CACNLB2|CAVB2|MYSB MIM:600003|HGNC:HGNC:1402|Ensembl:ENSG00000165995 10 10p12.33-p12.31 calcium voltage-gated channel auxiliary subunit beta 2 protein-coding CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 O voltage-dependent L-type calcium channel subunit beta-2|calcium channel voltage-dependent subunit beta 2|calcium channel, voltage-dependent, beta 2 subunit|lambert-Eaton myasthenic syndrome antigen B|myasthenic (Lambert-Eaton) syndrome antigen B 20210708 - 9606 784 CACNB3 - CAB3|CACNLB3 MIM:601958|HGNC:HGNC:1403|Ensembl:ENSG00000167535 12 12q13.12 calcium voltage-gated channel auxiliary subunit beta 3 protein-coding CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 O voltage-dependent L-type calcium channel subunit beta-3|calcium channel, voltage-dependent, beta 3 subunit 20211009 - 9606 785 CACNB4 - CAB4|CACNLB4|EA5|EIG9|EJM|EJM4|EJM6 MIM:601949|HGNC:HGNC:1404|Ensembl:ENSG00000182389 2 2q23.3 calcium voltage-gated channel auxiliary subunit beta 4 protein-coding CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 O voltage-dependent L-type calcium channel subunit beta-4|calcium channel voltage-dependent subunit beta 4|dihydropyridine-sensitive L-type, calcium channel beta-4 subunit 20210708 - 9606 786 CACNG1 - CACNLG MIM:114209|HGNC:HGNC:1405|Ensembl:ENSG00000108878 17 17q24.2 calcium voltage-gated channel auxiliary subunit gamma 1 protein-coding CACNG1 calcium voltage-gated channel auxiliary subunit gamma 1 O voltage-dependent calcium channel gamma-1 subunit|L-type calcium channel gamma polypeptide|calcium channel, voltage-dependent, gamma subunit 1|dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma|neuronal dihydropyridine-sensitive calcium channel gamma subunit 20210611 - 9606 788 SLC25A20 - CAC|CACT MIM:613698|HGNC:HGNC:1421|Ensembl:ENSG00000178537 3 3p21.31 solute carrier family 25 member 20 protein-coding SLC25A20 solute carrier family 25 member 20 O mitochondrial carnitine/acylcarnitine carrier protein|solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 20211003 - 9606 789 SLC25A20P1 - CACTP|SLC25A20P HGNC:HGNC:1422 6 6p12.2 solute carrier family 25 member 20 pseudogene 1 pseudo SLC25A20P1 solute carrier family 25 member 20 pseudogene 1 O solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene 1 20210611 - 9606 790 CAD - CDG1Z|DEE50|EIEE50|GATD4 MIM:114010|HGNC:HGNC:1424|Ensembl:ENSG00000084774 2 2p23.3 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase protein-coding CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase O CAD protein|CAD trifunctional protein|multifunctional protein CAD 20210905 - 9606 793 CALB1 - CALB|D-28K MIM:114050|HGNC:HGNC:1434|Ensembl:ENSG00000104327 8 8q21.3 calbindin 1 protein-coding CALB1 calbindin 1 O calbindin|RTVL-H protein|calbindin 1, (28kD)|calbindin 1, 28kDa|calbindin 27|calbindin D28|vitamin D-dependent calcium-binding protein, avian-type 20211026 - 9606 794 CALB2 - CAB29|CAL2|CR MIM:114051|HGNC:HGNC:1435|Ensembl:ENSG00000172137 16 16q22.2 calbindin 2 protein-coding CALB2 calbindin 2 O calretinin|29 kDa calbindin|calbindin 2, (29kD, calretinin)|calbindin D29K|testicular secretory protein Li 8 20211031 - 9606 795 S100G - CABP|CABP1|CABP9K|CALB3 MIM:302020|HGNC:HGNC:1436|Ensembl:ENSG00000169906 X Xp22.2 S100 calcium binding protein G protein-coding S100G S100 calcium binding protein G O protein S100-G|calbindin 3, (vitamin D-dependent calcium-binding protein)|calbindin D9K|calbindin-D9k|vitamin D-dependent calcium-binding protein, intestinal 20210611 - 9606 796 CALCA - CALC1|CGRP|CGRP-I|CGRP-alpha|CGRP1|CT|KC|PCT MIM:114130|HGNC:HGNC:1437|Ensembl:ENSG00000110680 11 11p15.2 calcitonin related polypeptide alpha protein-coding CALCA calcitonin related polypeptide alpha O calcitonin|calcitonin gene-related peptide 1|alpha-type CGRP|calcitonin 1|calcitonin gene-related peptide I|calcitonin/calcitonin-related polypeptide, alpha|katacalcin 20210926 - 9606 797 CALCB - CALC2|CGRP-II|CGRP2 MIM:114160|HGNC:HGNC:1438|Ensembl:ENSG00000175868 11 11p15.2 calcitonin related polypeptide beta protein-coding CALCB calcitonin related polypeptide beta O calcitonin gene-related peptide 2|beta-CGRP|beta-type CGRP|calcitonin 2|calcitonin gene-related peptide II 20211009 - 9606 798 CALCP - CALC3 HGNC:HGNC:1439|Ensembl:ENSG00000253179 11 11p15.2 calcitonin pseudogene pseudo CALCP calcitonin pseudogene O - 20210611 - 9606 799 CALCR - CRT|CT-R|CTR|CTR1 MIM:114131|HGNC:HGNC:1440|Ensembl:ENSG00000004948 7 7q21.3 calcitonin receptor protein-coding CALCR calcitonin receptor O calcitonin receptor 20210708 - 9606 800 CALD1 - CDM|H-CAD|HCAD|L-CAD|LCAD|NAG22 MIM:114213|HGNC:HGNC:1441|Ensembl:ENSG00000122786 7 7q33 caldesmon 1 protein-coding CALD1 caldesmon 1 O caldesmon|testis secretory sperm-binding protein Li 227n 20210708 - 9606 801 CALM1 - CALML2|CAM2|CAM3|CAMB|CAMC|CAMI|CAMIII|CPVT4|DD132|LQT14|PHKD|caM MIM:114180|HGNC:HGNC:1442|Ensembl:ENSG00000198668 14 14q32.11 calmodulin 1 protein-coding CALM1 calmodulin 1 O calmodulin-1|Calmodulin-2|Calmodulin-3|calmodulin 1 (phosphorylase kinase, delta)|phosphorylase kinase subunit delta|phosphorylase kinase, delta subunit|prepro-calmodulin 1 20211031 - 9606 802 CALM1P1 - CALML1 HGNC:HGNC:1443|Ensembl:ENSG00000223467 X Xq21.33 calmodulin 1 pseudogene 1 pseudo CALM1P1 calmodulin 1 pseudogene 1 O calmodulin 1 (phosphorylase kinase, delta) pseudogene 1 20210611 - 9606 804 CALM1P2 - - HGNC:HGNC:1444 7 7p11.2 calmodulin 1 pseudogene 2 pseudo CALM1P2 calmodulin 1 pseudogene 2 O TCAG_1643085|calmodulin 1 (phosphorylase kinase, delta) pseudogene 2 20210611 - 9606 805 CALM2 - CALM|CALML2|CAM1|CAM3|CAMC|CAMII|CAMIII|LQT15|PHKD|PHKD2|caM MIM:114182|HGNC:HGNC:1445|Ensembl:ENSG00000143933 2 2p21 calmodulin 2 protein-coding CALM2 calmodulin 2 O calmodulin-2|Calmodulin-1|Calmodulin-3|LP7057 protein|calmodulin 2 (phosphorylase kinase, delta)|phosphorylase kinase delta|phosphorylase kinase subunit delta|prepro-calmodulin 2 20211031 - 9606 806 CALM2P2 - - HGNC:HGNC:1447 10 10q22.1 calmodulin 2 pseudogene 2 pseudo CALM2P2 calmodulin 2 pseudogene 2 O - 20210611 - 9606 807 CALM2P3 - - HGNC:HGNC:1448 13 13q14.11 calmodulin 2 pseudogene 3 pseudo CALM2P3 calmodulin 2 pseudogene 3 O - 20210611 - 9606 808 CALM3 - CALM|CAM1|CAM2|CAMB|CPVT6|CaM|CaMIII|HEL-S-72|LQT16|PHKD|PHKD3 MIM:114183|HGNC:HGNC:1449|Ensembl:ENSG00000160014 19 19q13.32 calmodulin 3 protein-coding CALM3 calmodulin 3 O calmodulin-3|Calmodulin-1|Calmodulin-2|epididymis secretory protein Li 72|phosphorylase kinase subunit delta|prepro-calmodulin 3 20211031 - 9606 810 CALML3 - CLP MIM:114184|HGNC:HGNC:1452|Ensembl:ENSG00000178363 10 10p15.1 calmodulin like 3 protein-coding CALML3 calmodulin like 3 O calmodulin-like protein 3|caM-like protein|calmodulin-related protein NB-1 20210611 - 9606 811 CALR - CRT|HEL-S-99n|RO|SSA|cC1qR MIM:109091|HGNC:HGNC:1455|Ensembl:ENSG00000179218 19 19p13.13 calreticulin protein-coding CALR calreticulin O calreticulin|CRP55|ERp60|HACBP|Sicca syndrome antigen A (autoantigen Ro; calreticulin)|calregulin|endoplasmic reticulum resident protein 60|epididymis secretory sperm binding protein Li 99n|grp60 20211031 - 9606 813 CALU - - MIM:603420|HGNC:HGNC:1458|Ensembl:ENSG00000128595 7 7q32.1 calumenin protein-coding CALU calumenin O calumenin|IEF SSP 9302|crocalbin-like protein|multiple EF-hand protein 20210724 - 9606 814 CAMK4 - CaMK IV|CaMK-GR|CaMKIV|caMK MIM:114080|HGNC:HGNC:1464|Ensembl:ENSG00000152495 5 5q22.1 calcium/calmodulin dependent protein kinase IV protein-coding CAMK4 calcium/calmodulin dependent protein kinase IV O calcium/calmodulin-dependent protein kinase type IV|CAM kinase IV|CAM kinase- GR|brain Ca(2+)-calmodulin-dependent protein kinase type IV|brain Ca++-calmodulin-dependent protein kinase type IV|calcium/calmodulin-dependent protein kinase type IV catalytic chain 20211028 - 9606 815 CAMK2A - CAMKA|CaMKIINalpha|CaMKIIalpha|MRD53|MRT63 MIM:114078|HGNC:HGNC:1460|Ensembl:ENSG00000070808 5 5q32 calcium/calmodulin dependent protein kinase II alpha protein-coding CAMK2A calcium/calmodulin dependent protein kinase II alpha O calcium/calmodulin-dependent protein kinase type II subunit alpha|CaM kinase II alpha subunit|CaM-kinase II alpha chain|CaMK-II alpha subunit|caM kinase II subunit alpha|caMK-II subunit alpha|calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha|calcium/calmodulin-dependent protein kinase II alpha-B subunit|calcium/calmodulin-dependent protein kinase type II alpha chain 20211028 - 9606 816 CAMK2B - CAM2|CAMK2|CAMKB|CaMKIIbeta|MRD54 MIM:607707|HGNC:HGNC:1461|Ensembl:ENSG00000058404 7 7p13 calcium/calmodulin dependent protein kinase II beta protein-coding CAMK2B calcium/calmodulin dependent protein kinase II beta O calcium/calmodulin-dependent protein kinase type II subunit beta|CaM kinase II beta subunit|CaM-kinase II beta chain|caMK-II subunit beta|proline rich calmodulin-dependent protein kinase 20211028 - 9606 817 CAMK2D - CAMKD MIM:607708|HGNC:HGNC:1462|Ensembl:ENSG00000145349 4 4q26 calcium/calmodulin dependent protein kinase II delta protein-coding CAMK2D calcium/calmodulin dependent protein kinase II delta O calcium/calmodulin-dependent protein kinase type II subunit delta|CaM kinase II delta subunit|CaM-kinase II delta chain|CaMK-II delta subunit|calcium/calmodulin-dependent protein kinase (CaM kinase) II delta|calcium/calmodulin-dependent protein kinase type II delta chain 20211106 - 9606 818 CAMK2G - CAMK|CAMK-II|CAMKG|MRD59 MIM:602123|HGNC:HGNC:1463|Ensembl:ENSG00000148660 10 10q22.2 calcium/calmodulin dependent protein kinase II gamma protein-coding CAMK2G calcium/calmodulin dependent protein kinase II gamma O calcium/calmodulin-dependent protein kinase type II subunit gamma|caMK-II subunit gamma|calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma 20211028 - 9606 819 CAMLG - CAML|GET2 MIM:601118|HGNC:HGNC:1471|Ensembl:ENSG00000164615 5 5q31.1 calcium modulating ligand protein-coding CAMLG calcium modulating ligand O guided entry of tail-anchored proteins factor CAMLG|calcium signal-modulating cyclophilin ligand|calcium-modulating cyclophilin ligand|cyclophilin B-binding protein 20210822 - 9606 820 CAMP - CAP-18|CAP18|CRAMP|FALL-39|FALL39|HSD26|LL37 MIM:600474|HGNC:HGNC:1472|Ensembl:ENSG00000164047 3 3p21.31 cathelicidin antimicrobial peptide protein-coding CAMP cathelicidin antimicrobial peptide O cathelicidin antimicrobial peptide|18 kDa cationic antimicrobial protein|epididymis secretory sperm binding protein 20211031 - 9606 821 CANX - CNX|IP90|P90 MIM:114217|HGNC:HGNC:1473|Ensembl:ENSG00000127022 5 5q35.3 calnexin protein-coding CANX calnexin O calnexin|epididymis secretory sperm binding protein|major histocompatibility complex class I antigen-binding protein p88 20210905 - 9606 822 CAPG - AFCP|HEL-S-66|MCP MIM:153615|HGNC:HGNC:1474|Ensembl:ENSG00000042493 2 2p11.2 capping actin protein, gelsolin like protein-coding CAPG capping actin protein, gelsolin like O macrophage-capping protein|actin-regulatory protein CAP-G|capping protein (actin filament), gelsolin-like|epididymis secretory protein Li 66|gelsolin-like capping protein 20211003 - 9606 823 CAPN1 - CANP|CANP1|CANPL1|SPG76|muCANP|muCL MIM:114220|HGNC:HGNC:1476|Ensembl:ENSG00000014216 11 11q13.1 calpain 1 protein-coding CAPN1 calpain 1 O calpain-1 catalytic subunit|CANP 1|calcium-activated neutral proteinase 1|calpain 1, (mu/I) large subunit|calpain mu-type|calpain, large polypeptide L1|calpain-1 large subunit|cell proliferation-inducing gene 30 protein|cell proliferation-inducing protein 30|micromolar-calpain 20211026 - 9606 824 CAPN2 - CANP2|CANPL2|CANPml|mCANP MIM:114230|HGNC:HGNC:1479|Ensembl:ENSG00000162909 1 1q41 calpain 2 protein-coding CAPN2 calpain 2 O calpain-2 catalytic subunit|CANP 2|M-calpain|calcium-activated neutral proteinase 2|calpain 2, (m/II) large subunit|calpain 2, large [catalytic] subunit|calpain 2, large subunit|calpain M-type|calpain, large polypeptide L2|millimolar-calpain 20210808 - 9606 825 CAPN3 - CANP3|CANPL3|LGMD2|LGMD2A|LGMDD4|LGMDR1|nCL-1|p94 MIM:114240|HGNC:HGNC:1480|Ensembl:ENSG00000092529 15 15q15.1 calpain 3 protein-coding CAPN3 calpain 3 O calpain-3|calpain p94, large [catalytic] subunit|calpain, large polypeptide L3|muscle-specific calcium-activated neutral protease 3 large subunit|new calpain 1 20211031 - 9606 826 CAPNS1 - CALPAIN4|CANP|CANPS|CAPN4|CDPS|CSS1 MIM:114170|HGNC:HGNC:1481|Ensembl:ENSG00000126247 19 19q13.12 calpain small subunit 1 protein-coding CAPNS1 calpain small subunit 1 O calpain small subunit 1|CANP small subunit|calcium-activated neutral proteinase small subunit|calcium-dependent protease small subunit 1|calcium-dependent protease, small subunit|calpain 4, small subunit (30K)|calpain regulatory subunit|calpain, small polypeptide|epididymis secretory sperm binding protein 20210710 - 9606 827 CAPN6 - CANPX|CAPNX|CalpM|DJ914P14.1 MIM:300146|HGNC:HGNC:1483|Ensembl:ENSG00000077274 X Xq23 calpain 6 protein-coding CAPN6 calpain 6 O calpain-6|calpain-like protease X-linked|calpamodulin 20211017 - 9606 828 CAPS - CAPS1 MIM:114212|HGNC:HGNC:1487|Ensembl:ENSG00000105519 19 19p13.3 calcyphosine protein-coding CAPS calcyphosine O calcyphosin|calcyphosine 1|epididymis secretory sperm binding protein|thyroid protein p24 20210905 - 9606 829 CAPZA1 - CAPPA1|CAPZ|CAZ1 MIM:601580|HGNC:HGNC:1488|Ensembl:ENSG00000116489 1 1p13.2 capping actin protein of muscle Z-line subunit alpha 1 protein-coding CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 O F-actin-capping protein subunit alpha-1|Cap Z|capZ alpha-1|capping actin protein of muscle Z-line alpha subunit 1|capping protein (actin filament) muscle Z-line, alpha 1 20211017 - 9606 830 CAPZA2 - CAPPA2|CAPZ MIM:601571|HGNC:HGNC:1490|Ensembl:ENSG00000198898 7 7q31.2 capping actin protein of muscle Z-line subunit alpha 2 protein-coding CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 O F-actin-capping protein subunit alpha-2|F-actin capping protein alpha-2 subunit|capZ alpha-2|capping actin protein of muscle Z-line alpha subunit 2|capping protein (actin filament) muscle Z-line, alpha 2|epididymis secretory sperm binding protein 20210905 - 9606 831 CAST - BS-17|PLACK MIM:114090|HGNC:HGNC:1515|Ensembl:ENSG00000153113 5 5q15 calpastatin protein-coding CAST calpastatin O calpastatin|calpain inhibitor|sperm BS-17 component 20210905 - 9606 832 CAPZB - CAPB|CAPPB|CAPZ MIM:601572|HGNC:HGNC:1491|Ensembl:ENSG00000077549 1 1p36.13 capping actin protein of muscle Z-line subunit beta protein-coding CAPZB capping actin protein of muscle Z-line subunit beta O F-actin-capping protein subunit beta|capZ beta|capping actin protein of muscle Z-line beta subunit|capping protein (actin filament) muscle Z-line, beta|epididymis secretory sperm binding protein 20211017 - 9606 833 CARS1 - CARS|CYSRS|MCDDBH|MDBH|MGC:11246 MIM:123859|HGNC:HGNC:1493|Ensembl:ENSG00000110619 11 11p15.4 cysteinyl-tRNA synthetase 1 protein-coding CARS1 cysteinyl-tRNA synthetase 1 O cysteine--tRNA ligase, cytoplasmic|cysteine tRNA ligase 1, cytoplasmic|cysteine translase 20210808 - 9606 834 CASP1 - ICE|IL1BC|P45 MIM:147678|HGNC:HGNC:1499|Ensembl:ENSG00000137752 11 11q22.3 caspase 1 protein-coding CASP1 caspase 1 O caspase-1|CASP1 nirs variant 1|IL-1 beta-converting enzyme|IL1B-convertase|caspase 1, apoptosis-related cysteine peptidase|caspase-1 isoform alpha|interleukin 1, beta, convertase|interleukin 1-B converting enzyme 20211026 - 9606 835 CASP2 - CASP-2|ICH1|NEDD-2|NEDD2|PPP1R57 MIM:600639|HGNC:HGNC:1503|Ensembl:ENSG00000106144 7 7q34 caspase 2 protein-coding CASP2 caspase 2 O caspase-2|caspase 2 apoptosis-related cysteine peptidase|neural precursor cell expressed developmentally down-regulated protein 2|protease ICH-1|protein phosphatase 1, regulatory subunit 57 20210912 - 9606 836 CASP3 - CPP32|CPP32B|SCA-1 MIM:600636|HGNC:HGNC:1504|Ensembl:ENSG00000164305 4 4q35.1 caspase 3 protein-coding CASP3 caspase 3 O caspase-3|CASP-3|CPP-32|PARP cleavage protease|SREBP cleavage activity 1|apopain|caspase 3, apoptosis-related cysteine peptidase|caspase 3, apoptosis-related cysteine protease|cysteine protease CPP32|procaspase3|protein Yama 20211017 - 9606 837 CASP4 - ICE(rel)II|ICEREL-II|ICH-2|Mih1|Mih1/TX|TX MIM:602664|HGNC:HGNC:1505|Ensembl:ENSG00000196954 11 11q22.3 caspase 4 protein-coding CASP4 caspase 4 O caspase-4|CASP-4|ICE and Ced-3 homolog 2|ICE(rel)-II|apoptotic cysteine protease Mih1/TX|caspase 4, apoptosis-related cysteine peptidase|caspase 4, apoptosis-related cysteine protease|caspase-4 isoform alpha|protease ICH-2|protease TX 20210708 - 9606 838 CASP5 - ICE(rel)III|ICEREL-III|ICH-3 MIM:602665|HGNC:HGNC:1506|Ensembl:ENSG00000137757 11 11q22.3 caspase 5 protein-coding CASP5 caspase 5 O caspase-5|TY protease|caspase 5 variant X1|caspase 5, apoptosis-related cysteine peptidase|caspase 5, apoptosis-related cysteine protease|protease ICH-3|protease TY 20210708 - 9606 839 CASP6 - MCH2 MIM:601532|HGNC:HGNC:1507|Ensembl:ENSG00000138794 4 4q25 caspase 6 protein-coding CASP6 caspase 6 O caspase-6|apoptotic protease MCH-2|caspase 6, apoptosis-related cysteine peptidase|caspase 6, apoptosis-related cysteine protease 20211031 - 9606 840 CASP7 - CASP-7|CMH-1|ICE-LAP3|LICE2|MCH3 MIM:601761|HGNC:HGNC:1508|Ensembl:ENSG00000165806 10 10q25.3 caspase 7 protein-coding CASP7 caspase 7 O caspase-7|ICE-like apoptotic protease 3|apoptotic protease MCH-3|caspase 7, apoptosis-related cysteine peptidase|caspase 7, apoptosis-related cysteine protease 20210912 - 9606 841 CASP8 - ALPS2B|CAP4|Casp-8|FLICE|MACH|MCH5 MIM:601763|HGNC:HGNC:1509|Ensembl:ENSG00000064012 2 2q33.1 caspase 8 protein-coding CASP8 caspase 8 O caspase-8|FADD-homologous ICE/CED-3-like protease|FADD-like ICE|ICE-like apoptotic protease 5|MACH-alpha-1/2/3 protein|MACH-beta-1/2/3/4 protein|MORT1-associated ced-3 homolog|apoptotic cysteine protease|apoptotic protease Mch-5|caspase 8, apoptosis-related cysteine peptidase|caspase 8, apoptosis-related cysteine protease 20211031 - 9606 842 CASP9 - APAF-3|APAF3|ICE-LAP6|MCH6|PPP1R56 MIM:602234|HGNC:HGNC:1511|Ensembl:ENSG00000132906 1 1p36.21 caspase 9 protein-coding CASP9 caspase 9 O caspase-9|ICE-like apoptotic protease 6|apoptotic protease MCH-6|apoptotic protease activating factor 3|caspase 9, apoptosis-related cysteine peptidase|protein phosphatase 1, regulatory subunit 56 20210905 - 9606 843 CASP10 - ALPS2|FLICE-2|FLICE2|MCH4 MIM:601762|HGNC:HGNC:1500|Ensembl:ENSG00000003400 2 2q33.1 caspase 10 protein-coding CASP10 caspase 10 O caspase-10|CASP-10|FADD-like ICE2|FAS-associated death domain protein interleukin-1B-converting enzyme 2|ICE-like apoptotic protease 4|apoptotic protease MCH-4|caspase 10 apoptosis-related cysteine peptidase|caspase 10, apoptosis-related cysteine protease|interleukin-1B-converting enzyme 2 20210919 - 9606 844 CASQ1 - CASQ|PDIB1|VMCQA MIM:114250|HGNC:HGNC:1512|Ensembl:ENSG00000143318 1 1q23.2 calsequestrin 1 protein-coding CASQ1 calsequestrin 1 O calsequestrin-1|calmitin|calmitine|calsequestrin 1 (fast-twitch, skeletal muscle) 20210708 - 9606 845 CASQ2 - PDIB2 MIM:114251|HGNC:HGNC:1513|Ensembl:ENSG00000118729 1 1p13.1 calsequestrin 2 protein-coding CASQ2 calsequestrin 2 O calsequestrin-2|calsequestrin 2 (cardiac muscle)|calsequestrin 2, fast-twitch, cardiac muscle 20210906 - 9606 846 CASR - CAR|EIG8|FHH|FIH|GPRC2A|HHC|HHC1|HYPOC1|NSHPT|PCAR1|hCasR MIM:601199|HGNC:HGNC:1514|Ensembl:ENSG00000036828 3 3q13.33-q21.1 calcium sensing receptor protein-coding CASR calcium sensing receptor O extracellular calcium-sensing receptor|parathyroid Ca(2+)-sensing receptor 1|parathyroid cell calcium-sensing receptor 1 20211031 - 9606 847 CAT - - MIM:115500|HGNC:HGNC:1516|Ensembl:ENSG00000121691 11 11p13 catalase protein-coding CAT catalase O catalase|epididymis secretory sperm binding protein 20211017 - 9606 856 CATR1 - - MIM:600676|HGNC:HGNC:1525 7 7q32 CATR tumorigenicity conversion 1 ncRNA CATR1 CATR tumorigenicity conversion 1 O CATR tumorigenic conversion 1 20210506 - 9606 857 CAV1 - BSCL3|CGL3|LCCNS|MSTP085|PPH3|VIP21 MIM:601047|HGNC:HGNC:1527|Ensembl:ENSG00000105974 7 7q31.2 caveolin 1 protein-coding CAV1 caveolin 1 O caveolin-1|caveolin 1, caveolae protein, 22kDa|cell growth-inhibiting protein 32 20211031 - 9606 858 CAV2 - CAV MIM:601048|HGNC:HGNC:1528|Ensembl:ENSG00000105971 7 7q31.2 caveolin 2 protein-coding CAV2 caveolin 2 O caveolin-2|caveolae protein, 20-kD 20211028 - 9606 859 CAV3 - LGMD1C|LQT9|MPDT|RMD2|VIP-21|VIP21 MIM:601253|HGNC:HGNC:1529|Ensembl:ENSG00000182533 3 3p25.3 caveolin 3 protein-coding CAV3 caveolin 3 O caveolin-3|M-caveolin|cavolin 3 20211017 - 9606 860 RUNX2 - AML3|CBF-alpha-1|CBFA1|CCD|CCD1|CLCD|OSF-2|OSF2|PEA2aA|PEBP2aA MIM:600211|HGNC:HGNC:10472|Ensembl:ENSG00000124813 6 6p21.1 RUNX family transcription factor 2 protein-coding RUNX2 RUNX family transcription factor 2 O runt-related transcription factor 2|PEA2-alpha A|PEBP2-alpha A|SL3-3 enhancer factor 1 alpha A subunit|SL3/AKV core-binding factor alpha A subunit|acute myeloid leukemia 3 protein|core-binding factor, runt domain, alpha subunit 1|oncogene AML-3|osteoblast-specific transcription factor 2|polyomavirus enhancer-binding protein 2 alpha A subunit|runt related transcription factor 2 20211017 - 9606 861 RUNX1 - AML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alpha MIM:151385|HGNC:HGNC:10471|Ensembl:ENSG00000159216 21 21q22.12 RUNX family transcription factor 1 protein-coding RUNX1 RUNX family transcription factor 1 O runt-related transcription factor 1|AML1-ETO fusion|AML1-ETO fusion protein|AML1-EVI-1 fusion protein|PEA2-alpha B|PEBP2-alpha B|SL3-3 enhancer factor 1 alpha B subunit|SL3/AKV core-binding factor alpha B subunit|acute myeloid leukemia 1 protein|core-binding factor, runt domain, alpha subunit 2|mutant RUNX1|oncogene AML-1|polyomavirus enhancer-binding protein 2 alpha B subunit|runt related transcription factor 1 20211017 - 9606 862 RUNX1T1 - AML1-MTG8|AML1T1|CBFA2T1|CDR|ETO|MTG8|ZMYND2 MIM:133435|HGNC:HGNC:1535|Ensembl:ENSG00000079102 8 8q21.3 RUNX1 partner transcriptional co-repressor 1 protein-coding RUNX1T1 RUNX1 partner transcriptional co-repressor 1 O protein CBFA2T1|RUNX1 translocation partner 1|acute myelogenous leukemia 1 translocation 1, cyclin-D related|core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related|eight twenty one protein|myeloid translocation gene on 8q22|runt related transcription factor 1; translocated to, 1 (cyclin D related)|zinc finger MYND domain-containing protein 2 20211017 - 9606 863 CBFA2T3 - ETO2|MTG16|MTGR2|RUNX1T3|ZMYND4 MIM:603870|HGNC:HGNC:1537|Ensembl:ENSG00000129993 16 16q24.3 CBFA2/RUNX1 partner transcriptional co-repressor 3 protein-coding CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 O protein CBFA2T3|CBFA2/RUNX1 translocation partner 3|MTG8-related gene 2|MTG8-related protein 2|core-binding factor, runt domain, alpha subunit 2; translocated to, 3|myeloid translocation gene 8 and 16b|myeloid translocation gene on chromosome 16 protein|zinc finger MYND domain-containing protein 4 20210611 - 9606 864 RUNX3 - AML2|CBFA3|PEBP2aC MIM:600210|HGNC:HGNC:10473|Ensembl:ENSG00000020633 1 1p36.11 RUNX family transcription factor 3 protein-coding RUNX3 RUNX family transcription factor 3 O runt-related transcription factor 3|CBF-alpha-3|PEA2 alpha C|PEBP2 alpha C|SL3-3 enhancer factor 1 alpha C subunit|SL3/AKV core-binding factor alpha C subunit|acute myeloid leukemia 2 protein|acute myeloid leukemia gene 2|core-binding factor subunit alpha-3|core-binding factor, runt domain, alpha subunit 3|oncogene AML-2|polyomavirus enhancer-binding protein 2 alpha C subunit|runt related transcription factor 3|transcription factor AML2 20211017 - 9606 865 CBFB - PEBP2B MIM:121360|HGNC:HGNC:1539|Ensembl:ENSG00000067955 16 16q22.1 core-binding factor subunit beta protein-coding CBFB core-binding factor subunit beta O core-binding factor subunit beta|CBF-beta|PEA2-beta|PEBP2-beta|SL3-3 enhancer factor 1 beta subunit|SL3-3 enhancer factor 1 subunit beta|SL3/AKV core-binding factor beta subunit|core-binding factor beta subunit|polyomavirus enhancer binding protein 2, beta subunit 20210926 - 9606 866 SERPINA6 - CBG MIM:122500|HGNC:HGNC:1540|Ensembl:ENSG00000170099 14 14q32.13 serpin family A member 6 protein-coding SERPINA6 serpin family A member 6 O corticosteroid-binding globulin|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6|serpin A6|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6|transcortin 20210906 - 9606 867 CBL - C-CBL|CBL2|FRA11B|NSLL|RNF55 MIM:165360|HGNC:HGNC:1541|Ensembl:ENSG00000110395 11 11q23.3 Cbl proto-oncogene protein-coding CBL Cbl proto-oncogene O E3 ubiquitin-protein ligase CBL|Cas-Br-M (murine) ecotropic retroviral transforming sequence|Cbl proto-oncogene, E3 ubiquitin protein ligase|RING finger protein 55|RING-type E3 ubiquitin transferase CBL|casitas B-lineage lymphoma proto-oncogene|fragile site, folic acid type, rare, fra(11)(q23.3)|oncogene CBL2|proto-oncogene c-Cbl|signal transduction protein CBL 20211026 - 9606 868 CBLB - Cbl-b|Nbla00127|RNF56 MIM:604491|HGNC:HGNC:1542|Ensembl:ENSG00000114423 3 3q13.11 Cbl proto-oncogene B protein-coding CBLB Cbl proto-oncogene B O E3 ubiquitin-protein ligase CBL-B|Cas-Br-M (murine) ecotropic retroviral transforming sequence b|Cbl proto-oncogene B, E3 ubiquitin protein ligase|Cbl proto-oncogene, E3 ubiquitin protein ligase B|RING finger protein 56|RING-type E3 ubiquitin transferase CBL-B|SH3-binding protein CBL-B|casitas B-lineage lymphoma proto-oncogene b|signal transduction protein CBL-B 20211016 - 9606 869 CBLN1 - - MIM:600432|HGNC:HGNC:1543|Ensembl:ENSG00000102924 16 16q12.1 cerebellin 1 precursor protein-coding CBLN1 cerebellin 1 precursor O cerebellin-1|precerebellin 20211029 - 9606 871 SERPINH1 - AsTP3|CBP1|CBP2|HSP47|OI10|PIG14|PPROM|RA-A47|SERPINH2|gp46 MIM:600943|HGNC:HGNC:1546|Ensembl:ENSG00000149257 11 11q13.5 serpin family H member 1 protein-coding SERPINH1 serpin family H member 1 O serpin H1|47 kDa heat shock protein|arsenic-transactivated protein 3|cell proliferation-inducing gene 14 protein|collagen binding protein 1|colligin-1|colligin-2|rheumatoid arthritis antigen A-47|rheumatoid arthritis-related antigen RA-A47|serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)|serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2, (collagen-binding protein 2)|serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 20211017 - 9606 873 CBR1 - CBR|PG-9-KR|SDR21C1|hCBR1 MIM:114830|HGNC:HGNC:1548|Ensembl:ENSG00000159228 21 21q22.12 carbonyl reductase 1 protein-coding CBR1 carbonyl reductase 1 O carbonyl reductase [NADPH] 1|15-hydroxyprostaglandin dehydrogenase|20-beta-hydroxysteroid dehydrogenase|NADPH-dependent carbonyl reductase 1|carbonyl reductase (NADPH) 1|epididymis secretory sperm binding protein|prostaglandin 9-ketoreductase|prostaglandin-E(2) 9-reductase|short chain dehydrogenase/reductase family 21C member 1 20210905 - 9606 874 CBR3 - HEL-S-25|SDR21C2|hCBR3 MIM:603608|HGNC:HGNC:1549|Ensembl:ENSG00000159231 21 21q22.12 carbonyl reductase 3 protein-coding CBR3 carbonyl reductase 3 O carbonyl reductase [NADPH] 3|NADPH-dependent carbonyl reductase 3|carbonyl reductase (NADPH) 3|epididymis secretory protein Li 25|short chain dehydrogenase/reductase family 21C member 2 20210822 - 9606 875 CBS - CBSL|HIP4 MIM:613381|HGNC:HGNC:1550|Ensembl:ENSG00000160200 21 21q22.3 cystathionine beta-synthase protein-coding CBS cystathionine beta-synthase O cystathionine beta-synthase|Cystathionine beta-synthase-like protein|beta-thionase|methylcysteine synthase|serine sulfhydrase 20211107 - 9606 878 CCA1 - CTRCT7 MIM:115660 17 17q24 cataract, congenital, cerulean type, 1 unknown - - - - 20191002 - 9606 881 CCIN - BTBD20|KBTBD14 MIM:603960|HGNC:HGNC:1568|Ensembl:ENSG00000185972 9 9p13.3 calicin protein-coding CCIN calicin O calicin|testis tissue sperm-binding protein Li 65n 20210611 - 9606 882 CCAL1 - CPDD MIM:600668 8 8q chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis) unknown - - - - 20191002 - 9606 883 KYAT1 - CCBL1|GTK|KAT1|KATI MIM:600547|HGNC:HGNC:1564|Ensembl:ENSG00000171097|Ensembl:ENSG00000286112 9 9q34.11 kynurenine aminotransferase 1 protein-coding KYAT1 kynurenine aminotransferase 1 O kynurenine--oxoglutarate transaminase 1|beta-lysase, kidney|cysteine conjugate beta lyase 1|cysteine conjugate-beta lyase, cytoplasmic|cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)|cysteine-S-conjugate beta-lyase|glutamine transaminase K|glutamine--phenylpyruvate transaminase|glutamine-phenylpyruvate aminotransferase|kyneurenine aminotransferase|kynurenine aminotransferase I|kynurenine--oxoglutarate transaminase I 20210807 - 9606 885 CCK - - MIM:118440|HGNC:HGNC:1569|Ensembl:ENSG00000187094 3 3p22.1 cholecystokinin protein-coding CCK cholecystokinin O cholecystokinin|cholecystokinin triacontatriapeptide|prepro-cholecystokinin 20210708 - 9606 886 CCKAR - CCK-A|CCK1-R|CCK1R|CCKRA MIM:118444|HGNC:HGNC:1570|Ensembl:ENSG00000163394 4 4p15.2 cholecystokinin A receptor protein-coding CCKAR cholecystokinin A receptor O cholecystokinin receptor type A|CCK-A receptor|CCK-AR|cholecystokinin type-A receptor|cholecystokinin-1 receptor 20211030 - 9606 887 CCKBR - CCK-B|CCK2R|GASR MIM:118445|HGNC:HGNC:1571|Ensembl:ENSG00000110148 11 11p15.4 cholecystokinin B receptor protein-coding CCKBR cholecystokinin B receptor O gastrin/cholecystokinin type B receptor|CCK-B receptor|CCK2 receptor|cholecystokinin-2 receptor|gastrin receptor 20211016 - 9606 889 KRIT1 - CAM|CCM1 MIM:604214|HGNC:HGNC:1573|Ensembl:ENSG00000001631 7 7q21.2 KRIT1 ankyrin repeat containing protein-coding KRIT1 KRIT1 ankyrin repeat containing O krev interaction trapped protein 1|ankyrin repeat-containing protein Krit1|cerebral cavernous malformations 1 protein|krev interaction trapped 1 20211017 - 9606 890 CCNA2 - CCN1|CCNA MIM:123835|HGNC:HGNC:1578|Ensembl:ENSG00000145386 4 4q27 cyclin A2 protein-coding CCNA2 cyclin A2 O cyclin-A2|cyclin-A 20211017 - 9606 891 CCNB1 - CCNB MIM:123836|HGNC:HGNC:1579|Ensembl:ENSG00000134057 5 5q13.2 cyclin B1 protein-coding CCNB1 cyclin B1 O G2/mitotic-specific cyclin-B1 20211031 - 9606 892 CCNC - CycC|SRB11|hSRB11 MIM:123838|HGNC:HGNC:1581|Ensembl:ENSG00000112237 6 6q16.2 cyclin C protein-coding CCNC cyclin C O cyclin-C|SRB11 homolog 20210816 - 9606 894 CCND2 - KIAK0002|MPPH3 MIM:123833|HGNC:HGNC:1583|Ensembl:ENSG00000118971 12 12p13.32 cyclin D2 protein-coding CCND2 cyclin D2 O G1/S-specific cyclin-D2 20211017 - 9606 895 CCND2P1 - CCND2P HGNC:HGNC:1584 11 11q12.3 cyclin D2 pseudogene 1 pseudo CCND2P1 cyclin D2 pseudogene 1 O - 20210611 - 9606 896 CCND3 - - MIM:123834|HGNC:HGNC:1585|Ensembl:ENSG00000112576 6 6p21.1 cyclin D3 protein-coding CCND3 cyclin D3 O G1/S-specific cyclin-D3|D3-type cyclin 20210704 - 9606 897 CCND3P1 - CCND3P HGNC:HGNC:1586|Ensembl:ENSG00000224473 10 10p11.23 cyclin D3 pseudogene 1 pseudo CCND3P1 cyclin D3 pseudogene 1 O - 20210611 - 9606 898 CCNE1 - CCNE|pCCNE1 MIM:123837|HGNC:HGNC:1589|Ensembl:ENSG00000105173 19 19q12 cyclin E1 protein-coding CCNE1 cyclin E1 O G1/S-specific cyclin-E1 20211028 - 9606 899 CCNF - FBX1|FBXO1|FTDALS5 MIM:600227|HGNC:HGNC:1591|Ensembl:ENSG00000162063 16 16p13.3 cyclin F protein-coding CCNF cyclin F O cyclin-F|F-box only protein 1|G2/mitotic-specific cyclin-F 20210906 - 9606 900 CCNG1 - CCNG MIM:601578|HGNC:HGNC:1592|Ensembl:ENSG00000113328 5 5q34 cyclin G1 protein-coding CCNG1 cyclin G1 O cyclin-G1|cyclin-G 20210708 - 9606 901 CCNG2 - - MIM:603203|HGNC:HGNC:1593|Ensembl:ENSG00000138764 4 4q21.1 cyclin G2 protein-coding CCNG2 cyclin G2 O cyclin-G2 20211026 - 9606 902 CCNH - CAK|CycH|p34|p37 MIM:601953|HGNC:HGNC:1594|Ensembl:ENSG00000134480 5 5q14.3 cyclin H protein-coding CCNH cyclin H O cyclin-H|CAK complex subunit|CDK-activating kinase complex subunit|MO15-associated protein|cyclin-dependent kinase-activating kinase complex subunit 20210926 - 9606 904 CCNT1 - CCNT|CYCT1|HIVE1 MIM:143055|HGNC:HGNC:1599|Ensembl:ENSG00000129315 12 12q13.11-q13.12 cyclin T1 protein-coding CCNT1 cyclin T1 O cyclin-T1|CDK9-associated C-type protein|MLLT10/CCNT1 fusion|cyclin C-related protein|human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1 20211009 - 9606 905 CCNT2 - CYCT2 MIM:603862|HGNC:HGNC:1600|Ensembl:ENSG00000082258 2 2q21.3 cyclin T2 protein-coding CCNT2 cyclin T2 O cyclin-T2|SDS-stable vimentin-bound DNA fragment HEF42VIM22|cyclin T2a|cyclin T2b|subunit of positive elongation transcription factor b 20210808 - 9606 907 CCT - - MIM:302200 X - cataract, congenital, total unknown - - - - 20200625 - 9606 908 CCT6A - CCT-zeta|CCT-zeta-1|CCT6|Cctz|HTR3|MoDP-2|TCP-1-zeta|TCP20|TCPZ|TTCP20 MIM:104613|HGNC:HGNC:1620|Ensembl:ENSG00000146731 7 7p11.2 chaperonin containing TCP1 subunit 6A protein-coding CCT6A chaperonin containing TCP1 subunit 6A O T-complex protein 1 subunit zeta|T-complex protein 1, zeta subunit|acute morphine dependence related protein 2|amino acid transport defect-complementing|chaperonin containing T-complex subunit 6|chaperonin containing TCP1, subunit 6A (zeta 1)|histidine transport regulator 3 20210905 - 9606 909 CD1A - CD1|FCB6|HTA1|R4|T6 MIM:188370|HGNC:HGNC:1634|Ensembl:ENSG00000158477 1 1q23.1 CD1a molecule protein-coding CD1A CD1a molecule O T-cell surface glycoprotein CD1a|CD1A antigen, a polypeptide|T-cell surface antigen T6/Leu-6|cluster of differentiation 1 A|cortical thymocyte antigen CD1A|differentiation antigen CD1-alpha-3|epidermal dendritic cell marker CD1a|hTa1 thymocyte antigen 20210912 - 9606 910 CD1B - CD1|CD1A|R1 MIM:188360|HGNC:HGNC:1635|Ensembl:ENSG00000158485 1 1q23.1 CD1b molecule protein-coding CD1B CD1b molecule O T-cell surface glycoprotein CD1b|CD1B antigen, b polypeptide|cortical thymocyte antigen CD1B|differentiation antigen CD1-alpha-3 20210926 - 9606 911 CD1C - BDCA1|CD1|CD1A|R7 MIM:188340|HGNC:HGNC:1636|Ensembl:ENSG00000158481 1 1q23.1 CD1c molecule protein-coding CD1C CD1c molecule O T-cell surface glycoprotein CD1c|CD1C antigen, c polypeptide|cortical thymocyte antigen CD1C|differentiation antigen CD1-alpha-3 20210708 - 9606 912 CD1D - CD1A|R3|R3G1 MIM:188410|HGNC:HGNC:1637|Ensembl:ENSG00000158473|IMGT/GENE-DB:CD1D 1 1q23.1 CD1d molecule protein-coding CD1D CD1d molecule O antigen-presenting glycoprotein CD1d|CD1D antigen, d polypeptide|HMC class I antigen-like glycoprotein CD1D|T-cell surface glycoprotein CD1d|differentiation antigen CD1-alpha-3|thymocyte antigen CD1D 20211016 - 9606 913 CD1E - CD1A|R2 MIM:188411|HGNC:HGNC:1638|Ensembl:ENSG00000158488 1 1q23.1 CD1e molecule protein-coding CD1E CD1e molecule O T-cell surface glycoprotein CD1e, membrane-associated|CD1E antigen, e polypeptide|R2G1|differentiation antigen CD1-alpha-3|hCD1e|leukocyte differentiation antigen|thymocyte antigen CD1E 20210611 - 9606 914 CD2 - LFA-2|SRBC|T11 MIM:186990|HGNC:HGNC:1639|Ensembl:ENSG00000116824 1 1p13.1 CD2 molecule protein-coding CD2 CD2 molecule O T-cell surface antigen CD2|CD2 antigen (p50), sheep red blood cell receptor|LFA-3 receptor|T-cell surface antigen T11/Leu-5|erythrocyte receptor|lymphocyte-function antigen-2|rosette receptor 20211026 - 9606 915 CD3D - CD3-DELTA|IMD19|T3D MIM:186790|HGNC:HGNC:1673|Ensembl:ENSG00000167286 11 11q23.3 CD3d molecule protein-coding CD3D CD3d molecule O T-cell surface glycoprotein CD3 delta chain|CD3 antigen, delta subunit|CD3 delta|CD3d antigen, delta polypeptide (TiT3 complex)|CD3d molecule, delta (CD3-TCR complex)|OKT3, delta chain|T-cell receptor T3 delta chain 20210814 - 9606 916 CD3E - IMD18|T3E|TCRE MIM:186830|HGNC:HGNC:1674|Ensembl:ENSG00000198851 11 11q23.3 CD3e molecule protein-coding CD3E CD3e molecule O T-cell surface glycoprotein CD3 epsilon chain|CD3-epsilon|CD3e antigen, epsilon polypeptide (TiT3 complex)|CD3e molecule, epsilon (CD3-TCR complex)|T-cell antigen receptor complex, epsilon subunit of T3|T-cell surface antigen T3/Leu-4 epsilon chain 20210814 - 9606 917 CD3G - CD3-GAMMA|IMD17|T3G MIM:186740|HGNC:HGNC:1675|Ensembl:ENSG00000160654 11 11q23.3 CD3g molecule protein-coding CD3G CD3g molecule O T-cell surface glycoprotein CD3 gamma chain|CD3g antigen, gamma polypeptide (TiT3 complex)|CD3g molecule, epsilon (CD3-TCR complex)|CD3g molecule, gamma (CD3-TCR complex)|T-cell antigen receptor complex, gamma subunit of T3|T-cell receptor T3 gamma chain 20210708 - 9606 919 CD247 - CD3-ZETA|CD3H|CD3Q|CD3Z|IMD25|T3Z|TCRZ MIM:186780|HGNC:HGNC:1677|Ensembl:ENSG00000198821 1 1q24.2 CD247 molecule protein-coding CD247 CD247 molecule O T-cell surface glycoprotein CD3 zeta chain|CD247 antigen, zeta subunit|CD3Z antigen, zeta polypeptide (TiT3 complex)|CD3zeta chain|T-cell antigen receptor complex, zeta subunit of CD3|T-cell receptor T3 zeta chain|TCR zeta chain 20210919 - 9606 920 CD4 - CD4mut|IMD79|OKT4D MIM:186940|HGNC:HGNC:1678|Ensembl:ENSG00000010610 12 12p13.31 CD4 molecule protein-coding CD4 CD4 molecule O T-cell surface glycoprotein CD4|CD4 antigen (p55)|CD4 receptor|T-cell surface antigen T4/Leu-3 20211026 - 9606 921 CD5 - LEU1|T1 MIM:153340|HGNC:HGNC:1685|Ensembl:ENSG00000110448 11 11q12.2 CD5 molecule protein-coding CD5 CD5 molecule O T-cell surface glycoprotein CD5|CD5 antigen (p56-62)|epididymis secretory sperm binding protein|lymphocyte antigen T1/Leu-1 20210926 - 9606 922 CD5L - AIM|API6|CT-2|PRO229|SP-ALPHA|Spalpha|hAIM MIM:602592|HGNC:HGNC:1690|Ensembl:ENSG00000073754 1 1q23.1 CD5 molecule like protein-coding CD5L CD5 molecule like O CD5 antigen-like|CD5 antigen-like (scavenger receptor cysteine rich family)|apoptosis inhibitor 6|apoptosis inhibitor expressed by macrophages|apoptosis inhibitor of macrophage|igM-associated peptide 20211003 - 9606 923 CD6 - TP120 MIM:186720|HGNC:HGNC:1691|Ensembl:ENSG00000013725 11 11q12.2 CD6 molecule protein-coding CD6 CD6 molecule O T-cell differentiation antigen CD6|CD6 antigen|T12 20210620 - 9606 924 CD7 - GP40|LEU-9|TP41|Tp40 MIM:186820|HGNC:HGNC:1695|Ensembl:ENSG00000173762 17 17q25.3 CD7 molecule protein-coding CD7 CD7 molecule O T-cell antigen CD7|CD7 antigen (p41)|T-cell leukemia antigen|T-cell surface antigen Leu-9|p41 protein 20210926 - 9606 925 CD8A - CD8|Leu2|p32 MIM:186910|HGNC:HGNC:1706|Ensembl:ENSG00000153563 2 2p11.2 CD8a molecule protein-coding CD8A CD8a molecule O T-cell surface glycoprotein CD8 alpha chain|CD8 antigen, alpha polypeptide (p32)|Leu2 T-lymphocyte antigen|OKT8 T-cell antigen|T cell co-receptor|T-cell antigen Leu2|T-lymphocyte differentiation antigen T8/Leu-2|T8 T-cell antigen 20211031 - 9606 926 CD8B - CD8B1|LEU2|LY3|LYT3|P37 MIM:186730|HGNC:HGNC:1707|Ensembl:ENSG00000172116 2 2p11.2 CD8b molecule protein-coding CD8B CD8b molecule O T-cell surface glycoprotein CD8 beta chain|CD8 antigen, beta polypeptide 1 (p37)|T lymphocyte surface glycoprotein beta chain 20210716 - 9606 927 CD8B2 - CD8BP HGNC:HGNC:1708|Ensembl:ENSG00000254126 2 2q12.2 CD8b2 molecule protein-coding CD8B2 CD8b2 molecule O T-cell surface glycoprotein CD8 beta-2 chain|CD8 antigen, beta polypeptide pseudogene|CD8b molecule pseudogene|CD8b pseudogene|putative T-cell surface glycoprotein CD8 beta-2 chain 20210611 - 9606 928 CD9 - BTCC-1|DRAP-27|MIC3|MRP-1|TSPAN-29|TSPAN29 MIM:143030|HGNC:HGNC:1709|Ensembl:ENSG00000010278 12 12p13.31 CD9 molecule protein-coding CD9 CD9 molecule O CD9 antigen|5H9 antigen|BA-2/p24 antigen|CD9 antigen (p24)|antigen CD9|cell growth-inhibiting gene 2 protein|leukocyte antigen MIC3|motility related protein-1|tetraspanin-29 20210926 - 9606 929 CD14 - - MIM:158120|HGNC:HGNC:1628|Ensembl:ENSG00000170458 5 5q31.3 CD14 molecule protein-coding CD14 CD14 molecule O monocyte differentiation antigen CD14|myeloid cell-specific leucine-rich glycoprotein 20211017 - 9606 930 CD19 - B4|CVID3 MIM:107265|HGNC:HGNC:1633|Ensembl:ENSG00000177455 16 16p11.2 CD19 molecule protein-coding CD19 CD19 molecule O B-lymphocyte antigen CD19|B-lymphocyte surface antigen B4|T-cell surface antigen Leu-12|differentiation antigen CD19 20211017 - 9606 931 MS4A1 - B1|Bp35|CD20|CVID5|FMC7|LEU-16|S7 MIM:112210|HGNC:HGNC:7315|Ensembl:ENSG00000156738 11 11q12.2 membrane spanning 4-domains A1 protein-coding MS4A1 membrane spanning 4-domains A1 O B-lymphocyte antigen CD20|B-lymphocyte cell-surface antigen B1|CD20 antigen|CD20 receptor|leukocyte surface antigen Leu-16|membrane-spanning 4-domains, subfamily A, member 1 20211009 - 9606 932 MS4A3 - CD20L|HTM4 MIM:606498|HGNC:HGNC:7317|Ensembl:ENSG00000149516 11 11q12.1 membrane spanning 4-domains A3 protein-coding MS4A3 membrane spanning 4-domains A3 O membrane-spanning 4-domains subfamily A member 3|CD20 antigen homolog|CD20 antigen-like protein|IgE receptor beta chain|IgE receptor beta subunit|hematopoietic cell 4 transmembrane protein|hematopoietic-specific transmembrane protein 4|membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 20210708 - 9606 933 CD22 - SIGLEC-2|SIGLEC2 MIM:107266|HGNC:HGNC:1643|Ensembl:ENSG00000012124 19 19q13.12 CD22 molecule protein-coding CD22 CD22 molecule O B-cell receptor CD22|B-lymphocyte cell adhesion molecule|BL-CAM|CD22 antigen|T-cell surface antigen Leu-14|sialic acid-binding Ig-like lectin 2 20211031 - 9606 935 CD24P1 - CD24L1 HGNC:HGNC:1646 1 1p36.21 CD24 molecule pseudogene 1 pseudo CD24P1 CD24 molecule pseudogene 1 O CD24 antigen-like 1|CD24 molecule-like 1 20210611 - 9606 936 CD24P2 - CD24L2 HGNC:HGNC:1647 15 15q21.3 CD24 molecule pseudogene 2 pseudo CD24P2 CD24 molecule pseudogene 2 O CD24 antigen-like 2|CD24 molecule-like 2 20210611 - 9606 937 CD24P3 - CD24L3 HGNC:HGNC:1648 20 20q11.21 CD24 molecule pseudogene 3 pseudo CD24P3 CD24 molecule pseudogene 3 O CD24 antigen-like 3|CD24 molecule-like 3 20210518 - 9606 938 CD24P4 - CD24L4 HGNC:HGNC:1649 Y Yq11.222 CD24 molecule pseudogene 4 pseudo CD24P4 CD24 molecule pseudogene 4 O CD24 antigen pseudogene|CD24 antigen-like 4|CD24 molecule-like 4 pseudogene 20210724 - 9606 939 CD27 - S152|S152. LPFS2|T14|TNFRSF7|Tp55 MIM:186711|HGNC:HGNC:11922|Ensembl:ENSG00000139193 12 12p13.31 CD27 molecule protein-coding CD27 CD27 molecule O CD27 antigen|CD27L receptor|T cell activation antigen S152|T-cell activation antigen CD27|tumor necrosis factor receptor superfamily, member 7 20210708 - 9606 940 CD28 - Tp44 MIM:186760|HGNC:HGNC:1653|Ensembl:ENSG00000178562 2 2q33.2 CD28 molecule protein-coding CD28 CD28 molecule O T-cell-specific surface glycoprotein CD28 20211026 - 9606 941 CD80 - B7|B7-1|B7.1|BB1|CD28LG|CD28LG1|LAB7 MIM:112203|HGNC:HGNC:1700|Ensembl:ENSG00000121594 3 3q13.33 CD80 molecule protein-coding CD80 CD80 molecule O T-lymphocyte activation antigen CD80|B-lymphocyte activation antigen B7|CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)|CTLA-4 counter-receptor B7.1|activation B7-1 antigen|costimulatory factor CD80|costimulatory molecule variant IgV-CD80 20211017 - 9606 942 CD86 - B7-2|B7.2|B70|CD28LG2|LAB72 MIM:601020|HGNC:HGNC:1705|Ensembl:ENSG00000114013 3 3q13.33 CD86 molecule protein-coding CD86 CD86 molecule O T-lymphocyte activation antigen CD86|B-lymphocyte activation antigen B7-2|BU63|CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)|CTLA-4 counter-receptor B7.2|FUN-1 20211003 - 9606 943 TNFRSF8 - CD30|D1S166E|Ki-1 MIM:153243|HGNC:HGNC:11923|Ensembl:ENSG00000120949 1 1p36.22 TNF receptor superfamily member 8 protein-coding TNFRSF8 TNF receptor superfamily member 8 O tumor necrosis factor receptor superfamily member 8|CD30L receptor|Ki-1 antigen|cytokine receptor CD30|lymphocyte activation antigen CD30 20210912 - 9606 944 TNFSF8 - CD153|CD30L|CD30LG|TNLG3A MIM:603875|HGNC:HGNC:11938|Ensembl:ENSG00000106952 9 9q32-q33.1 TNF superfamily member 8 protein-coding TNFSF8 TNF superfamily member 8 O tumor necrosis factor ligand superfamily member 8|CD153 antigen|CD30 antigen ligand|CD30 ligand|CD30-L|tumor necrosis factor (ligand) superfamily, member 8|tumor necrosis factor ligand 3A|tumor necrosis factor superfamily member 8 20210708 - 9606 945 CD33 - SIGLEC-3|SIGLEC3|p67 MIM:159590|HGNC:HGNC:1659|Ensembl:ENSG00000105383 19 19q13.41 CD33 molecule protein-coding CD33 CD33 molecule O myeloid cell surface antigen CD33|CD33 antigen (gp67)|CD33 molecule transcript|gp67|sialic acid-binding Ig-like lectin 3 20211017 - 9606 946 SIGLEC6 - CD327|CD33L|CD33L1|CD33L2|CDW327|OBBP1 MIM:604405|HGNC:HGNC:10875|Ensembl:ENSG00000105492 19 19q13.41 sialic acid binding Ig like lectin 6 protein-coding SIGLEC6 sialic acid binding Ig like lectin 6 O sialic acid-binding Ig-like lectin 6|CD33 antigen-like 1|obesity-binding protein 1 20210611 - 9606 947 CD34 - - MIM:142230|HGNC:HGNC:1662|Ensembl:ENSG00000174059 1 1q32.2 CD34 molecule protein-coding CD34 CD34 molecule O hematopoietic progenitor cell antigen CD34|CD34 antigen 20211017 - 9606 948 CD36 - BDPLT10|CHDS7|FAT|GP3B|GP4|GPIV|PASIV|SCARB3 MIM:173510|HGNC:HGNC:1663|Ensembl:ENSG00000135218 7 7q21.11 CD36 molecule protein-coding CD36 CD36 molecule O platelet glycoprotein 4|CD36 antigen (collagen type I receptor, thrombospondin receptor)|CD36 molecule (thrombospondin receptor)|GPIIIB|PAS IV|PAS-4 protein|cluster determinant 36|fatty acid translocase|glycoprotein IIIb|leukocyte differentiation antigen CD36|platelet glycoprotein IV|scavenger receptor class B, member 3 20211031 - 9606 949 SCARB1 - CD36L1|CLA-1|CLA1|HDLQTL6|SR-BI|SRB1 MIM:601040|HGNC:HGNC:1664|Ensembl:ENSG00000073060 12 12q24.31 scavenger receptor class B member 1 protein-coding SCARB1 scavenger receptor class B member 1 O scavenger receptor class B member 1|CD36 and LIMPII analogous 1|CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1|scavenger receptor class B type III 20211031 - 9606 950 SCARB2 - AMRF|CD36L2|EPM4|HLGP85|LGP85|LIMP-2|LIMPII|SR-BII MIM:602257|HGNC:HGNC:1665|Ensembl:ENSG00000138760 4 4q21.1 scavenger receptor class B member 2 protein-coding SCARB2 scavenger receptor class B member 2 O lysosome membrane protein 2|85 kDa lysosomal membrane sialoglycoprotein|85 kDa lysosomal sialoglycoprotein scavenger receptor class B, member 2|CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)|CD36 antigen-like 2|LIMP II|lysosome membrane protein II 20210906 - 9606 951 CD37 - GP52-40|TSPAN26 MIM:151523|HGNC:HGNC:1666|Ensembl:ENSG00000104894 19 19q13.33 CD37 molecule protein-coding CD37 CD37 molecule O leukocyte antigen CD37|cell differentiation antigen 37|leukocyte surface antigen CD37|tetraspanin-26|tspan-26 20210704 - 9606 952 CD38 - ADPRC 1|ADPRC1 MIM:107270|HGNC:HGNC:1667|Ensembl:ENSG00000004468 4 4p15.32 CD38 molecule protein-coding CD38 CD38 molecule O ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1|2'-phospho-ADP-ribosyl cyclase|2'-phospho-cyclic-ADP-ribose transferase|ADP-ribosyl cyclase 1|CD38 antigen (p45)|NAD(+) nucleosidase|cluster of differentiation 38|cyclic ADP-ribose hydrolase 1|ecto-nicotinamide adenine dinucleotide glycohydrolase 20211031 - 9606 953 ENTPD1 - ATPDase|CD39|NTPDase-1|SPG64 MIM:601752|HGNC:HGNC:3363|Ensembl:ENSG00000138185 10 10q24.1 ectonucleoside triphosphate diphosphohydrolase 1 protein-coding ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 O ectonucleoside triphosphate diphosphohydrolase 1|CD39 antigen|ecto-ATP diphosphohydrolase 1|ecto-ATPDase 1|ecto-ATPase 1|ecto-apyrase|lymphoid cell activation antigen 20211017 - 9606 954 ENTPD2 - CD39L1|NTPDase-2 MIM:602012|HGNC:HGNC:3364|Ensembl:ENSG00000054179 9 9q34.3 ectonucleoside triphosphate diphosphohydrolase 2 protein-coding ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 O ectonucleoside triphosphate diphosphohydrolase 2|CD39 antigen-like 1|NTPDase 2|ecto-ATP diphosphohydrolase 2|ecto-ATPDase 2|ecto-ATPase 2 20210708 - 9606 955 ENTPD6 - CD39L2|IL-6SAG|IL6ST2|NTPDase-6|dJ738P15.3 MIM:603160|HGNC:HGNC:3368|Ensembl:ENSG00000197586 20 20p11.21 ectonucleoside triphosphate diphosphohydrolase 6 protein-coding ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 O ectonucleoside triphosphate diphosphohydrolase 6|CD39 antigen-like 2|NTPDase 6|ectonucleoside triphosphate diphosphohydrolase 6 (putative)|interleukin 6 signal transducer-2 20210708 - 9606 956 ENTPD3 - CD39L3|HB6|NTPDase-3 MIM:603161|HGNC:HGNC:3365|Ensembl:ENSG00000168032 3 3p22.1 ectonucleoside triphosphate diphosphohydrolase 3 protein-coding ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 O ectonucleoside triphosphate diphosphohydrolase 3|CD39 antigen-like 3|NTPDase 3|ecto-ATP diphosphohydrolase 3|ecto-ATPDase 3|ecto-ATPase 3|ecto-apyrase 3 20210708 - 9606 957 ENTPD5 - CD39L4|NTPDase-5|PCPH MIM:603162|HGNC:HGNC:3367|Ensembl:ENSG00000187097 14 14q24.3 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) protein-coding ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) O ectonucleoside triphosphate diphosphohydrolase 5|CD39 antigen-like 4|CD39-like 4|ER-UDPase|GDPase ENTPD5|NTPDase 5|Pcph proto-oncogene protein|UDPase ENTPD5|guanosine-diphosphatase ENTPD5|nucleoside diphosphatase|proto-oncogene CPH|uridine-diphosphatase ENTPD5 20210708 - 9606 958 CD40 - Bp50|CDW40|TNFRSF5|p50 MIM:109535|HGNC:HGNC:11919|Ensembl:ENSG00000101017 20 20q13.12 CD40 molecule protein-coding CD40 CD40 molecule O tumor necrosis factor receptor superfamily member 5|B cell surface antigen CD40|B cell-associated molecule|CD40 molecule, TNF receptor superfamily member 5|CD40L receptor 20211017 - 9606 959 CD40LG - CD154|CD40L|HIGM1|IGM|IMD3|T-BAM|TNFSF5|TRAP|gp39|hCD40L MIM:300386|HGNC:HGNC:11935|Ensembl:ENSG00000102245 X Xq26.3 CD40 ligand protein-coding CD40LG CD40 ligand O CD40 ligand|CD40 antigen ligand|CD40-L|T-B cell-activating molecule|T-cell antigen Gp39|TNF-related activation protein|tumor necrosis factor (ligand) superfamily member 5 20210906 - 9606 960 CD44 - CDW44|CSPG8|ECMR-III|HCELL|HUTCH-I|IN|LHR|MC56|MDU2|MDU3|MIC4|Pgp1 MIM:107269|HGNC:HGNC:1681|Ensembl:ENSG00000026508 11 11p13 CD44 molecule (Indian blood group) protein-coding CD44 CD44 molecule (Indian blood group) O CD44 antigen|GP90 lymphocyte homing/adhesion receptor|Hermes antigen|Indian blood group antigen|cell surface glycoprotein CD44|chondroitin sulfate proteoglycan 8|epican|extracellular matrix receptor III|hematopoietic cell E- and L-selectin ligand|heparan sulfate proteoglycan|homing function and Indian blood group system|hyaluronate receptor|phagocytic glycoprotein 1|soluble CD44 20211031 - 9606 961 CD47 - IAP|MER6|OA3 MIM:601028|HGNC:HGNC:1682|Ensembl:ENSG00000196776 3 3q13.12 CD47 molecule protein-coding CD47 CD47 molecule O leukocyte surface antigen CD47|CD47 antigen (Rh-related antigen, integrin-associated signal transducer)|CD47 glycoprotein|Rh-related antigen|antigen identified by monoclonal antibody 1D8|antigenic surface determinant protein OA3|integrin associated protein|integrin-associated signal transducer 20211031 - 9606 962 CD48 - BCM1|BLAST|BLAST1|MEM-102|SLAMF2|hCD48|mCD48 MIM:109530|HGNC:HGNC:1683|Ensembl:ENSG00000117091 1 1q23.3 CD48 molecule protein-coding CD48 CD48 molecule O CD48 antigen|B-lymphocyte activation marker BLAST-1|BCM1 surface antigen|CD48 antigen (B-cell membrane protein)|SLAM family member 2|TCT.1|leukocyte antigen MEM-102|signaling lymphocytic activation molecule 2 20211003 - 9606 963 CD53 - MOX44|TSPAN25 MIM:151525|HGNC:HGNC:1686|Ensembl:ENSG00000143119 1 1p13.3 CD53 molecule protein-coding CD53 CD53 molecule O leukocyte surface antigen CD53|CD53 antigen|CD53 glycoprotein|CD53 tetraspan antigen|antigen MOX44 identified by monoclonal antibody MRC-OX44|cell surface antigen|cell surface glycoprotein CD53|tetraspanin-25|transmembrane glycoprotein|tspan-25 20210708 - 9606 965 CD58 - LFA-3|LFA3|ag3 MIM:153420|HGNC:HGNC:1688|Ensembl:ENSG00000116815 1 1p13.1 CD58 molecule protein-coding CD58 CD58 molecule O lymphocyte function-associated antigen 3|CD58 antigen, (lymphocyte function-associated antigen 3)|surface glycoprotein LFA-3 20210708 - 9606 966 CD59 - 16.3A5|1F5|EJ16|EJ30|EL32|G344|HRF-20|HRF20|MAC-IP|MACIF|MEM43|MIC11|MIN1|MIN2|MIN3|MIRL|MSK21|p18-20 MIM:107271|HGNC:HGNC:1689|Ensembl:ENSG00000085063 11 11p13 CD59 molecule (CD59 blood group) protein-coding CD59 CD59 molecule (CD59 blood group) O CD59 glycoprotein|1F5 antigen|20 kDa homologous restriction factor|CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)|CD59 blood group antigen|CD59 molecule, complement regulatory protein|Ly-6-like protein|MEM43 antigen|T cell-activating protein|human leukocyte antigen MIC11|lymphocytic antigen CD59/MEM43|membrane attack complex (MAC) inhibition factor|membrane attack complex inhibition factor|membrane inhibitor of reactive lysis|protectin|surface anitgen recognized by monoclonal antibody 16.3A5 20211017 - 9606 967 CD63 - LAMP-3|ME491|MLA1|OMA81H|TSPAN30 MIM:155740|HGNC:HGNC:1692|Ensembl:ENSG00000135404 12 12q13.2 CD63 molecule protein-coding CD63 CD63 molecule O CD63 antigen|CD63 antigen (melanoma 1 antigen)|granulophysin|lysosomal-associated membrane protein 3|lysosome-associated membrane glycoprotein 3|melanoma-associated antigen ME491|melanoma-associated antigen MLA1|ocular melanoma-associated antigen|tetraspanin-30|tspan-30 20210919 - 9606 968 CD68 - GP110|LAMP4|SCARD1 MIM:153634|HGNC:HGNC:1693|Ensembl:ENSG00000129226 17 17p13.1 CD68 molecule protein-coding CD68 CD68 molecule O macrosialin|CD68 antigen|macrophage antigen CD68|scavenger receptor class D, member 1 20210919 - 9606 969 CD69 - AIM|BL-AC/P26|CLEC2C|EA1|GP32/28|MLR-3 MIM:107273|HGNC:HGNC:1694|Ensembl:ENSG00000110848 12 12p13.31 CD69 molecule protein-coding CD69 CD69 molecule O early activation antigen CD69|C-type lectin domain family 2, member C|CD69 antigen (p60, early T-cell activation antigen)|activation inducer molecule (AIM/CD69)|early T-cell activation antigen p60|early lymphocyte activation antigen|leukocyte surface antigen Leu-23 20211003 - 9606 970 CD70 - CD27-L|CD27L|CD27LG|LPFS3|TNFSF7|TNLG8A MIM:602840|HGNC:HGNC:11937|Ensembl:ENSG00000125726 19 19p13.3 CD70 molecule protein-coding CD70 CD70 molecule O CD70 antigen|CD27 ligand|Ki-24 antigen|surface antigen CD70|tumor necrosis factor ligand 8A|tumor necrosis factor ligand superfamily member 7 20210708 - 9606 971 CD72 - CD72b|LYB2 MIM:107272|HGNC:HGNC:1696|Ensembl:ENSG00000137101 9 9p13.3 CD72 molecule protein-coding CD72 CD72 molecule O B-cell differentiation antigen CD72|CD72 antigen|lyb-2 20210613 - 9606 972 CD74 - CLIP|DHLAG|HLADG|II|Ia-GAMMA|p33 MIM:142790|HGNC:HGNC:1697|Ensembl:ENSG00000019582 5 5q33.1 CD74 molecule protein-coding CD74 CD74 molecule O HLA class II histocompatibility antigen gamma chain|CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)|CD74 molecule, major histocompatibility complex, class II invariant chain|HLA-DR antigens-associated invariant chain|HLA-DR-gamma|Ia-associated invariant chain|MHC HLA-DR gamma chain|class II MHC-associated invariant chain peptide|gamma chain of class II antigens 20211031 - 9606 973 CD79A - IGA|MB-1 MIM:112205|HGNC:HGNC:1698|Ensembl:ENSG00000105369 19 19q13.2 CD79a molecule protein-coding CD79A CD79a molecule O B-cell antigen receptor complex-associated protein alpha chain|CD79a antigen (immunoglobulin-associated alpha)|CD79a molecule, immunoglobulin-associated alpha|MB-1 membrane glycoprotein|ig-alpha|membrane-bound immunoglobulin-associated protein|surface IgM-associated protein 20210705 - 9606 974 CD79B - AGM6|B29|IGB MIM:147245|HGNC:HGNC:1699|Ensembl:ENSG00000007312 17 17q23.3 CD79b molecule protein-coding CD79B CD79b molecule O B-cell antigen receptor complex-associated protein beta chain|B-cell-specific glycoprotein B29|CD79b antigen (immunoglobulin-associated beta)|CD79b molecule, immunoglobulin-associated beta|Ig-beta|immunoglobulin-associated B29 protein 20210611 - 9606 975 CD81 - CVID6|S5.7|TAPA1|TSPAN28 MIM:186845|HGNC:HGNC:1701|Ensembl:ENSG00000110651 11 11p15.5 CD81 molecule protein-coding CD81 CD81 molecule O CD81 antigen|26 kDa cell surface protein TAPA-1|CD81 antigen (target of antiproliferative antibody 1)|tetraspanin-28|tspan-28 20210926 - 9606 976 ADGRE5 - CD97|TM7LN1 MIM:601211|HGNC:HGNC:1711|Ensembl:ENSG00000123146 19 19p13.12 adhesion G protein-coupled receptor E5 protein-coding ADGRE5 adhesion G protein-coupled receptor E5 O adhesion G protein-coupled receptor E5|CD97 molecule|leukocyte antigen CD97|seven transmembrane helix receptor|seven-span transmembrane protein|seven-transmembrane, heterodimeric receptor associated with inflammation 20210906 - 9606 977 CD151 - EBS7|GP27|MER2|PETA-3|RAPH|SFA1|TSPAN24 MIM:602243|HGNC:HGNC:1630|Ensembl:ENSG00000177697 11 11p15.5 CD151 molecule (Raph blood group) protein-coding CD151 CD151 molecule (Raph blood group) O CD151 antigen|CD151 antigen (Raph blood group)|hemidesmosomal tetraspanin CD151|membrane glycoprotein SFA-1|platelet surface glycoprotein gp27|platelet-endothelial cell tetraspan antigen 3|platelet-endothelial tetraspan antigen 3|tetraspanin-24|tspan-24 20211031 - 9606 978 CDA - CDD MIM:123920|HGNC:HGNC:1712|Ensembl:ENSG00000158825 1 1p36.12 cytidine deaminase protein-coding CDA cytidine deaminase O cytidine deaminase|cytidine aminohydrolase|cytosine nucleoside deaminase|small cytidine deaminase 20210708 - 9606 981 CDAN3 - CDA3|CDAIII MIM:105600 15 15q21-q25 congenital dyserythropoietic anemia, type III unknown - - - - 20191002 - 9606 982 CDB2 - CDBII|CDTB MIM:602082 10 10q23-q24 corneal dystrophy of Bowman layer type II (Thiel-Behnke) unknown - - - corneal dystrophy of Bowman's layer type II (Thiel-Behnke) 20191002 - 9606 983 CDK1 - CDC2|CDC28A|P34CDC2 MIM:116940|HGNC:HGNC:1722|Ensembl:ENSG00000170312 10 10q21.2 cyclin dependent kinase 1 protein-coding CDK1 cyclin dependent kinase 1 O cyclin-dependent kinase 1|cell cycle controller CDC2|cell division control protein 2 homolog|cell division cycle 2, G1 to S and G2 to M|cell division protein kinase 1|p34 protein kinase 20211031 - 9606 984 CDK11B - CDC2L1|CDK11|CDK11-p110|CDK11-p46|CDK11-p58|CLK-1|PITSLREA|PK58|p58|p58CDC2L1|p58CLK-1 MIM:176873|HGNC:HGNC:1729|Ensembl:ENSG00000248333 1 1p36.33 cyclin dependent kinase 11B protein-coding CDK11B cyclin dependent kinase 11B O cyclin-dependent kinase 11B|CDC-related protein kinase p58|PITSLRE serine/threonine-protein kinase CDC2L1|cell division cycle 2-like 1 (PITSLRE proteins)|cell division protein kinase 11B|galactosyltransferase-associated protein kinase p58/GTA|p58 CLK-1 20211028 - 9606 987 LRBA - BGL|CDC4L|CVID8|LAB300|LBA MIM:606453|HGNC:HGNC:1742|Ensembl:ENSG00000198589 4 4q31.3 LPS responsive beige-like anchor protein protein-coding LRBA LPS responsive beige-like anchor protein O lipopolysaccharide-responsive and beige-like anchor protein|CDC4-like protein|LPS-responsive vesicle trafficking, beach and anchor containing|vesicle trafficking, beach and anchor containing 20211009 - 9606 988 CDC5L - CDC5|CDC5-LIKE|CEF1|PCDC5RP|dJ319D22.1 MIM:602868|HGNC:HGNC:1743|Ensembl:ENSG00000096401 6 6p21.1 cell division cycle 5 like protein-coding CDC5L cell division cycle 5 like O cell division cycle 5-like protein|CDC5 cell division cycle 5-like|Cdc5-related protein|dJ319D22.1 (CDC5-like protein)|pombe cdc5-related protein 20210905 - 9606 989 SEPTIN7 - CDC10|CDC3|NBLA02942|SEPT7|SEPT7A MIM:603151|HGNC:HGNC:1717|Ensembl:ENSG00000122545 7 7p14.2 septin 7 protein-coding SEPTIN7 septin 7 O septin-7|CDC10 (cell division cycle 10, S. cerevisiae, homolog)|CDC10 protein homolog|septin 7 variant 4 20211017 - 9606 990 CDC6 - CDC18L|HsCDC18|HsCDC6|MGORS5 MIM:602627|HGNC:HGNC:1744|Ensembl:ENSG00000094804 17 17q21.2 cell division cycle 6 protein-coding CDC6 cell division cycle 6 O cell division control protein 6 homolog|CDC6 cell division cycle 6 homolog|CDC6-related protein|cdc18-related protein|cell division cycle 6 homolog|p62(cdc6) 20210919 - 9606 991 CDC20 - CDC20A|bA276H19.3|p55CDC MIM:603618|HGNC:HGNC:1723|Ensembl:ENSG00000117399 1 1p34.2 cell division cycle 20 protein-coding CDC20 cell division cycle 20 O cell division cycle protein 20 homolog|CDC20 cell division cycle 20 homolog|cell division cycle 20 homolog|fizzy homolog 20211017 - 9606 993 CDC25A - CDC25A2 MIM:116947|HGNC:HGNC:1725|Ensembl:ENSG00000164045 3 3p21.31 cell division cycle 25A protein-coding CDC25A cell division cycle 25A O M-phase inducer phosphatase 1|CDC25 homolog A|dual specificity phosphatase CDC25A 20211003 - 9606 994 CDC25B - - MIM:116949|HGNC:HGNC:1726|Ensembl:ENSG00000101224 20 20p13 cell division cycle 25B protein-coding CDC25B cell division cycle 25B O M-phase inducer phosphatase 2|CDC25 homolog B|dual specificity phosphatase Cdc25B 20211017 - 9606 995 CDC25C - CDC25|PPP1R60 MIM:157680|HGNC:HGNC:1727|Ensembl:ENSG00000158402 5 5q31.2 cell division cycle 25C protein-coding CDC25C cell division cycle 25C O M-phase inducer phosphatase 3|CDC25 homolog C|dual specificity phosphatase CDC25C|mitosis inducer CDC25|phosphotyrosine phosphatase|protein phosphatase 1, regulatory subunit 60 20210711 - 9606 996 CDC27 - ANAPC3|APC3|CDC27Hs|D0S1430E|D17S978E|H-NUC|HNUC|NUC2 MIM:116946|HGNC:HGNC:1728|Ensembl:ENSG00000004897 17 17q21.32 cell division cycle 27 protein-coding CDC27 cell division cycle 27 O cell division cycle protein 27 homolog|D0S1430E, D17S978E|anaphase promoting complex subunit 3|anaphase-promoting complex, protein 3|cell division cycle 27 homolog|nuc2 homolog 20210905 - 9606 997 CDC34 - E2-CDC34|UBC3|UBCH3|UBE2R1 MIM:116948|HGNC:HGNC:1734|Ensembl:ENSG00000099804 19 19p13.3 cell division cycle 34, ubiqiutin conjugating enzyme protein-coding CDC34 cell division cycle 34, ubiqiutin conjugating enzyme O ubiquitin-conjugating enzyme E2 R1|(E3-independent) E2 ubiquitin-conjugating enzyme R1|E2 ubiquitin-conjugating enzyme R1|cell division cycle 34 homolog|ubiquitin carrier protein|ubiquitin-conjugating enzyme E2-32 KDA complementing|ubiquitin-conjugating enzyme E2-CDC34|ubiquitin-protein ligase R1 20210905 - 9606 998 CDC42 - CDC42Hs|G25K|TKS MIM:116952|HGNC:HGNC:1736|Ensembl:ENSG00000070831 1 1p36.12 cell division cycle 42 protein-coding CDC42 cell division cycle 42 O cell division control protein 42 homolog|G25K GTP-binding protein|GTP binding protein, 25kDa|dJ224A6.1.1 (cell division cycle 42 (GTP-binding protein, 25kD))|dJ224A6.1.2 (cell division cycle 42 (GTP-binding protein, 25kD))|growth-regulating protein|small GTP binding protein CDC42 20211031 - 9606 999 CDH1 - Arc-1|BCDS1|CD324|CDHE|ECAD|LCAM|UVO MIM:192090|HGNC:HGNC:1748|Ensembl:ENSG00000039068 16 16q22.1 cadherin 1 protein-coding CDH1 cadherin 1 O cadherin-1|CAM 120/80|E-cadherin 1|cadherin 1, E-cadherin (epithelial)|cadherin 1, type 1, E-cadherin (epithelial)|calcium-dependent adhesion protein, epithelial|cell-CAM 120/80|epididymis secretory sperm binding protein|epithelial cadherin|uvomorulin 20211031 - 9606 1000 CDH2 - ACOGS|ARVD14|CD325|CDHN|CDw325|NCAD MIM:114020|HGNC:HGNC:1759|Ensembl:ENSG00000170558 18 18q12.1 cadherin 2 protein-coding CDH2 cadherin 2 O cadherin-2|N-cadherin 1|cadherin 2, type 1, N-cadherin (neuronal)|calcium-dependent adhesion protein, neuronal|neural cadherin 20211003 - 9606 1001 CDH3 - CDHP|HJMD|PCAD MIM:114021|HGNC:HGNC:1762|Ensembl:ENSG00000062038 16 16q22.1 cadherin 3 protein-coding CDH3 cadherin 3 O cadherin-3|cadherin 3, type 1, P-cadherin (placental)|calcium-dependent adhesion protein, placental 20211017 - 9606 1002 CDH4 - CAD4|R-CAD|RCAD MIM:603006|HGNC:HGNC:1763|Ensembl:ENSG00000179242 20 20q13.33 cadherin 4 protein-coding CDH4 cadherin 4 O cadherin-4|R-cadherin|cadherin 4, type 1, R-cadherin (retinal)|cadherin 4, type 1, preproprotein|retinal cadherin 20210905 - 9606 1003 CDH5 - 7B4|CD144 MIM:601120|HGNC:HGNC:1764|Ensembl:ENSG00000179776 16 16q21 cadherin 5 protein-coding CDH5 cadherin 5 O cadherin-5|7B4 antigen|VE-cadherin|cadherin 5, type 2 (vascular endothelium)|cadherin 5, type 2, VE-cadherin (vascular epithelium)|cd144 antigen|endothelial-specific cadherin|vascular endothelial cadherin 20211031 - 9606 1004 CDH6 - CAD6|KCAD MIM:603007|HGNC:HGNC:1765|Ensembl:ENSG00000113361 5 5p13.3 cadherin 6 protein-coding CDH6 cadherin 6 O cadherin-6|cadherin 6, type 2, K-cadherin (fetal kidney) 20210708 - 9606 1005 CDH7 - CDH7L1 MIM:605806|HGNC:HGNC:1766|Ensembl:ENSG00000081138 18 18q22.1 cadherin 7 protein-coding CDH7 cadherin 7 O cadherin-7|cadherin 7, type 2 20210708 - 9606 1006 CDH8 - Nbla04261 MIM:603008|HGNC:HGNC:1767|Ensembl:ENSG00000150394 16 16q21 cadherin 8 protein-coding CDH8 cadherin 8 O cadherin-8|cadherin 8, type 2 20210708 - 9606 1007 CDH9 - - MIM:609974|HGNC:HGNC:1768|Ensembl:ENSG00000113100 5 5p14.1 cadherin 9 protein-coding CDH9 cadherin 9 O cadherin-9|T1-cadherin 20210708 - 9606 1008 CDH10 - - MIM:604555|HGNC:HGNC:1749|Ensembl:ENSG00000040731 5 5p14.2-p14.1 cadherin 10 protein-coding CDH10 cadherin 10 O cadherin-10|T2-cadherin|cadherin 10 type 2 20210708 - 9606 1009 CDH11 - CAD11|CDHOB|ESWS|OB|OSF-4 MIM:600023|HGNC:HGNC:1750|Ensembl:ENSG00000140937 16 16q21 cadherin 11 protein-coding CDH11 cadherin 11 O cadherin-11|cadherin 11, type 2, OB-cadherin (osteoblast) 20210809 - 9606 1010 CDH12 - CDHB MIM:600562|HGNC:HGNC:1751|Ensembl:ENSG00000154162 5 5p14.3 cadherin 12 protein-coding CDH12 cadherin 12 O cadherin-12|Br-cadherin|N-cadherin 2|brain-cadherin|cadherin, neural type, 2|neural type cadherin 2|neuronal cadherin 2 20210906 - 9606 1011 CDH12P2 - C41-CAD|CDH12P HGNC:HGNC:1752|Ensembl:ENSG00000249230 5 5q13.2 cadherin 12 pseudogene 2 pseudo CDH12P2 cadherin 12 pseudogene 2 O Br-cadherin pseudogene|cadherin 12 (N-cadherin 2) pseudogene 2 20210611 - 9606 1012 CDH13 - CDHH|P105 MIM:601364|HGNC:HGNC:1753|Ensembl:ENSG00000140945 16 16q23.3 cadherin 13 protein-coding CDH13 cadherin 13 O cadherin-13|H-cadherin (heart)|T-cad|T-cadherin|cadherin 13, H-cadherin (heart)|heart cadherin 20211017 - 9606 1013 CDH15 - CDH14|CDH3|CDHM|MCAD|MRD3 MIM:114019|HGNC:HGNC:1754|Ensembl:ENSG00000129910 16 16q24.3 cadherin 15 protein-coding CDH15 cadherin 15 O cadherin-15|cadherin 15, type 1, M-cadherin (myotubule)|cadherin-14|cadherin-3|muscle-cadherin 20210708 - 9606 1014 CDH16 - - MIM:603118|HGNC:HGNC:1755|Ensembl:ENSG00000166589 16 16q22.1 cadherin 16 protein-coding CDH16 cadherin 16 O cadherin-16|KSP-cadherin|cadherin 16, KSP-cadherin|kidney-specific cadherin 20210611 - 9606 1015 CDH17 - CDH16|HPT-1|HPT1 MIM:603017|HGNC:HGNC:1756|Ensembl:ENSG00000079112 8 8q22.1 cadherin 17 protein-coding CDH17 cadherin 17 O cadherin-17|HPT-1 cadherin|LI cadherin|cadherin 17, LI cadherin (liver-intestine)|cadherin-16|human intestinal peptide-associated transporter HPT-1|human peptide transporter 1|intestinal peptide-associated transporter HPT-1|liver-intestine cadherin 20211016 - 9606 1016 CDH18 - CDH14|CDH14L|CDH24 MIM:603019|HGNC:HGNC:1757|Ensembl:ENSG00000145526 5 5p14.3 cadherin 18 protein-coding CDH18 cadherin 18 O cadherin-18|cadherin 18, type 2|cadherin-14|cadherin-like 24|ey-cadherin 20210905 - 9606 1017 CDK2 - CDKN2|p33(CDK2) MIM:116953|HGNC:HGNC:1771|Ensembl:ENSG00000123374 12 12q13.2 cyclin dependent kinase 2 protein-coding CDK2 cyclin dependent kinase 2 O cyclin-dependent kinase 2|cdc2-related protein kinase|cell division protein kinase 2|p33 protein kinase 20211028 - 9606 1018 CDK3 - - MIM:123828|HGNC:HGNC:1772|Ensembl:ENSG00000250506 17 17q25.1 cyclin dependent kinase 3 protein-coding CDK3 cyclin dependent kinase 3 O cyclin-dependent kinase 3|cell division protein kinase 3 20211028 - 9606 1019 CDK4 - CMM3|PSK-J3 MIM:123829|HGNC:HGNC:1773|Ensembl:ENSG00000135446 12 12q14.1 cyclin dependent kinase 4 protein-coding CDK4 cyclin dependent kinase 4 O cyclin-dependent kinase 4|cell division protein kinase 4 20211028 - 9606 1020 CDK5 - LIS7|PSSALRE MIM:123831|HGNC:HGNC:1774|Ensembl:ENSG00000164885 7 7q36.1 cyclin dependent kinase 5 protein-coding CDK5 cyclin dependent kinase 5 O cyclin-dependent-like kinase 5|TPKII catalytic subunit|cell division protein kinase 5|epididymis secretory sperm binding protein|protein kinase CDK5 splicing|serine/threonine-protein kinase PSSALRE|tau protein kinase II catalytic subunit 20211028 - 9606 1021 CDK6 - MCPH12|PLSTIRE MIM:603368|HGNC:HGNC:1777|Ensembl:ENSG00000105810 7 7q21.2 cyclin dependent kinase 6 protein-coding CDK6 cyclin dependent kinase 6 O cyclin-dependent kinase 6|cell division protein kinase 6|serine/threonine-protein kinase PLSTIRE 20211028 - 9606 1022 CDK7 - CAK|CAK1|CDKN7|HCAK|MO15|STK1|p39MO15 MIM:601955|HGNC:HGNC:1778|Ensembl:ENSG00000134058 5 5q13.2 cyclin dependent kinase 7 protein-coding CDK7 cyclin dependent kinase 7 O cyclin-dependent kinase 7|39 KDa protein kinase|CDK-activating kinase 1|TFIIH basal transcription factor complex kinase subunit|cell division protein kinase 7|cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)|homolog of Xenopus MO15 Cdk-activating kinase|kinase subunit of CAK|serine/threonine kinase stk1|serine/threonine protein kinase 1|serine/threonine protein kinase MO15 20211031 - 9606 1024 CDK8 - IDDHBA|K35 MIM:603184|HGNC:HGNC:1779|Ensembl:ENSG00000132964 13 13q12.13 cyclin dependent kinase 8 protein-coding CDK8 cyclin dependent kinase 8 O cyclin-dependent kinase 8|CDK8 protein kinase|cell division protein kinase 8|mediator complex subunit CDK8|mediator of RNA polymerase II transcription subunit CDK8|protein kinase K35 20211028 - 9606 1025 CDK9 - C-2k|CDC2L4|CTK1|PITALRE|TAK MIM:603251|HGNC:HGNC:1780|Ensembl:ENSG00000136807 9 9q34.11 cyclin dependent kinase 9 protein-coding CDK9 cyclin dependent kinase 9 O cyclin-dependent kinase 9|CDC2-related kinase|cell division cycle 2-like protein kinase 4|cell division protein kinase 9|serine/threonine protein kinase PITALRE|tat-associated kinase complex catalytic subunit 20211028 - 9606 1026 CDKN1A - CAP20|CDKN1|CIP1|MDA-6|P21|SDI1|WAF1|p21CIP1 MIM:116899|HGNC:HGNC:1784|Ensembl:ENSG00000124762 6 6p21.2 cyclin dependent kinase inhibitor 1A protein-coding CDKN1A cyclin dependent kinase inhibitor 1A O cyclin-dependent kinase inhibitor 1|CDK-interacting protein 1|CDK-interaction protein 1|DNA synthesis inhibitor|cyclin-dependent kinase inhibitor 1A (p21, Cip1)|melanoma differentiation associated protein 6|wild-type p53-activated fragment 1 20211031 - 9606 1027 CDKN1B - CDKN4|KIP1|MEN1B|MEN4|P27KIP1 MIM:600778|HGNC:HGNC:1785|Ensembl:ENSG00000111276 12 12p13.1 cyclin dependent kinase inhibitor 1B protein-coding CDKN1B cyclin dependent kinase inhibitor 1B O cyclin-dependent kinase inhibitor 1B|cyclin-dependent kinase inhibitor 1B (p27, Kip1) 20211031 - 9606 1028 CDKN1C - BWCR|BWS|KIP2|WBS|p57|p57Kip2 MIM:600856|HGNC:HGNC:1786|Ensembl:ENSG00000129757 11 11p15.4 cyclin dependent kinase inhibitor 1C protein-coding CDKN1C cyclin dependent kinase inhibitor 1C O cyclin-dependent kinase inhibitor 1C|cyclin-dependent kinase inhibitor 1C (p57, Kip2)|cyclin-dependent kinase inhibitor p57 20211031 - 9606 1029 CDKN2A - ARF|CDK4I|CDKN2|CMM2|INK4|INK4A|MLM|MTS-1|MTS1|P14|P14ARF|P16|P16-INK4A|P16INK4|P16INK4A|P19|P19ARF|TP16 MIM:600160|HGNC:HGNC:1787|Ensembl:ENSG00000147889 9 9p21.3 cyclin dependent kinase inhibitor 2A protein-coding CDKN2A cyclin dependent kinase inhibitor 2A O cyclin-dependent kinase inhibitor 2A|CDK4 inhibitor p16-INK4|alternative reading frame|cell cycle negative regulator beta|cyclin-dependent kinase 4 inhibitor A|cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)|multiple tumor suppressor 1 20211031 - 9606 1030 CDKN2B - CDK4I|INK4B|MTS2|P15|TP15|p15INK4b MIM:600431|HGNC:HGNC:1788|Ensembl:ENSG00000147883 9 9p21.3 cyclin dependent kinase inhibitor 2B protein-coding CDKN2B cyclin dependent kinase inhibitor 2B O cyclin-dependent kinase 4 inhibitor B|CDK inhibitory protein|CDK4B inhibitor|MTS-2|cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)|cyclin-dependent kinases 4 and 6 binding protein|multiple tumor suppressor 2|p14-INK4b|p14_CDK inhibitor|p14_INK4B|p15 CDK inhibitor|p15-INK4b|p15_INK4B 20211026 - 9606 1031 CDKN2C - INK4C|p18|p18-INK4C MIM:603369|HGNC:HGNC:1789|Ensembl:ENSG00000123080 1 1p32.3 cyclin dependent kinase inhibitor 2C protein-coding CDKN2C cyclin dependent kinase inhibitor 2C O cyclin-dependent kinase 4 inhibitor C|CDK6 inhibitor p18|cyclin-dependent inhibitor|cyclin-dependent kinase 6 inhibitor p18|cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)|p18-INK6 20210711 - 9606 1032 CDKN2D - INK4D|p19|p19-INK4D MIM:600927|HGNC:HGNC:1790|Ensembl:ENSG00000129355 19 19p13.2 cyclin dependent kinase inhibitor 2D protein-coding CDKN2D cyclin dependent kinase inhibitor 2D O cyclin-dependent kinase 4 inhibitor D|CDK inhibitor p19INK4d|cell cycle inhibitor, Nur77 associating protein|cyclin-dependent kinase 4 inhibitor D p19|cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)|inhibitor of cyclin-dependent kinase 4d 20210708 - 9606 1033 CDKN3 - CDI1|CIP2|KAP|KAP1 MIM:123832|HGNC:HGNC:1791|Ensembl:ENSG00000100526 14 14q22.2 cyclin dependent kinase inhibitor 3 protein-coding CDKN3 cyclin dependent kinase inhibitor 3 O cyclin-dependent kinase inhibitor 3|CDK2-associated dual specificity phosphatase|Cdk-associated protein phosphatase|cyclin-dependent kinase inhibitor|cyclin-dependent kinase interacting protein 2|cyclin-dependent kinase interactor 1|kinase-associated phosphatase 20210711 - 9606 1036 CDO1 - CDO-I MIM:603943|HGNC:HGNC:1795|Ensembl:ENSG00000129596 5 5q22.3 cysteine dioxygenase type 1 protein-coding CDO1 cysteine dioxygenase type 1 O cysteine dioxygenase type 1|cysteine dioxygenase, type I 20211031 - 9606 1038 CDR1 - CDR|CDR34|CDR62A MIM:302650|HGNC:HGNC:1798|Ensembl:ENSG00000288642 X Xq27.1 cerebellar degeneration related protein 1 unknown CDR1 cerebellar degeneration related protein 1 O cerebellar degeneration-related antigen 1|cerebellar degeneration-related protein 1, 34kDa 20210915 - 9606 1039 CDR2 - CDR62|Yo MIM:117340|HGNC:HGNC:1799|Ensembl:ENSG00000140743 16 16p12.2 cerebellar degeneration related protein 2 protein-coding CDR2 cerebellar degeneration related protein 2 O cerebellar degeneration-related protein 2|Yo paraneoplastic antigen|cerebellar degeneration-related protein 2, 62kDa|major Yo paraneoplastic antigen|paraneoplastic cerebellar degeneration-associated antigen 20210906 - 9606 1040 CDS1 - CDS 1 MIM:603548|HGNC:HGNC:1800|Ensembl:ENSG00000163624 4 4q21.23 CDP-diacylglycerol synthase 1 protein-coding CDS1 CDP-diacylglycerol synthase 1 O phosphatidate cytidylyltransferase 1|CDP-DAG synthase 1|CDP-DG synthase 1|CDP-DG synthetase 1|CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1|CDP-diglyceride pyrophosphorylase 1|CDP-diglyceride synthase 1|CDP-diglyceride synthetase 1|CTP:phosphatidate cytidylyltransferase 1 20210905 - 9606 1041 CDSN - HTSS|HTSS1|HYPT2|PSS|PSS1 MIM:602593|HGNC:HGNC:1802|Ensembl:ENSG00000204539 6 6p21.33 corneodesmosin protein-coding CDSN corneodesmosin O corneodesmosin|S protein|differentiated keratinocyte S protein 20211003 - 9606 1043 CD52 - CDW52|EDDM5|HE5 MIM:114280|HGNC:HGNC:1804|Ensembl:ENSG00000169442 1 1p36.11 CD52 molecule protein-coding CD52 CD52 molecule O CAMPATH-1 antigen|CD52 antigen (CAMPATH-1 antigen)|CDW52 antigen (CAMPATH-1 antigen)|HEL-S-171mP|cambridge pathology 1 antigen|epididymal secretory protein E5|epididymis secretory sperm binding protein Li 171mP|human epididymis-specific protein 5 20210926 - 9606 1044 CDX1 - - MIM:600746|HGNC:HGNC:1805|Ensembl:ENSG00000113722 5 5q32 caudal type homeobox 1 protein-coding CDX1 caudal type homeobox 1 O homeobox protein CDX-1|caudal type homeo box transcription factor 1|caudal type homeobox transcription factor 1|caudal-type homeobox protein 1|caudal-type homeobox protein CDX1 20210611 - 9606 1045 CDX2 - CDX-3|CDX2/AS|CDX3 MIM:600297|HGNC:HGNC:1806|Ensembl:ENSG00000165556 13 13q12.2 caudal type homeobox 2 protein-coding CDX2 caudal type homeobox 2 O homeobox protein CDX-2|caudal type homeobox transcription factor 2|caudal-type homeobox protein 2|homeobox protein miniCDX2 20211031 - 9606 1046 CDX4 - - MIM:300025|HGNC:HGNC:1808|Ensembl:ENSG00000131264 X Xq13.2 caudal type homeobox 4 protein-coding CDX4 caudal type homeobox 4 O homeobox protein CDX-4|caudal type homeobox transcription factor 4|caudal-type homeobox protein 4 20210611 - 9606 1047 CLGN - - MIM:601858|HGNC:HGNC:2060|Ensembl:ENSG00000153132 4 4q31.1 calmegin protein-coding CLGN calmegin O calmegin|testis tissue sperm-binding protein Li 79P 20210704 - 9606 1048 CEACAM5 - CD66e|CEA MIM:114890|HGNC:HGNC:1817|Ensembl:ENSG00000105388 19 19q13.2 CEA cell adhesion molecule 5 protein-coding CEACAM5 CEA cell adhesion molecule 5 O carcinoembryonic antigen-related cell adhesion molecule 5|carcinoembryonic antigen related cell adhesion molecule 5|meconium antigen 100 20211031 - 9606 1050 CEBPA - C/EBP-alpha|CEBP MIM:116897|HGNC:HGNC:1833|Ensembl:ENSG00000245848 19 19q13.11 CCAAT enhancer binding protein alpha protein-coding CEBPA CCAAT enhancer binding protein alpha O CCAAT/enhancer-binding protein alpha|CCAAT/enhancer binding protein (C/EBP), alpha 20211026 - 9606 1051 CEBPB - C/EBP-beta|IL6DBP|NF-IL6|TCF5 MIM:189965|HGNC:HGNC:1834|Ensembl:ENSG00000172216 20 20q13.13 CCAAT enhancer binding protein beta protein-coding CEBPB CCAAT enhancer binding protein beta O CCAAT/enhancer-binding protein beta|CCAAT/enhancer binding protein (C/EBP), beta|interleukin 6-dependent DNA-binding protein|nuclear factor NF-IL6|nuclear factor of interleukin 6|transcription factor 5|transcription factor C/EBP beta 20211026 - 9606 1052 CEBPD - C/EBP-delta|CELF|CRP3|NF-IL6-beta MIM:116898|HGNC:HGNC:1835|Ensembl:ENSG00000221869 8 8q11.21 CCAAT enhancer binding protein delta protein-coding CEBPD CCAAT enhancer binding protein delta O CCAAT/enhancer-binding protein delta|CCAAT/enhancer binding protein (C/EBP), delta|c/EBP delta|nuclear factor NF-IL6-beta 20211031 - 9606 1053 CEBPE - C/EBP-epsilon|CRP1|c/EBP epsilon MIM:600749|HGNC:HGNC:1836|Ensembl:ENSG00000092067 14 14q11.2 CCAAT enhancer binding protein epsilon protein-coding CEBPE CCAAT enhancer binding protein epsilon O CCAAT/enhancer-binding protein epsilon|CCAAT/enhancer binding protein (C/EBP), epsilon 20210809 - 9606 1054 CEBPG - GPE1BP|IG/EBP-1 MIM:138972|HGNC:HGNC:1837|Ensembl:ENSG00000153879 19 19q13.11 CCAAT enhancer binding protein gamma protein-coding CEBPG CCAAT enhancer binding protein gamma O CCAAT/enhancer-binding protein gamma|CCAAT/enhancer binding protein (C/EBP), gamma|c/EBP gamma 20210808 - 9606 1055 CECR - CES MIM:115470|HGNC:HGNC:1838 22 22pter-q11 cat eye syndrome chromosome region other CECR cat eye syndrome chromosome region O - 20190324 - 9606 1056 CEL - BAL|BSDL|BSSL|CELL|CEase|FAP|FAPP|LIPA|MODY8 MIM:114840|HGNC:HGNC:1848|Ensembl:ENSG00000170835 9 9q34.13 carboxyl ester lipase protein-coding CEL carboxyl ester lipase O bile salt-activated lipase|bucelipase|carboxyl ester hydrolase|carboxyl ester lipase (bile salt-stimulated lipase)|cholesterol esterase|fetoacinar pancreatic protein|lysophospholipase, pancreatic|sterol esterase 20211003 - 9606 1057 CELP - CELL|cell1|cell2|cell3 HGNC:HGNC:1849|Ensembl:ENSG00000170827 9 9q34.13 carboxyl ester lipase pseudogene pseudo CELP carboxyl ester lipase pseudogene O carboxyl ester lipase-like (bile salt-stimulated lipase-like) 20210716 - 9606 1058 CENPA - CENP-A|CenH3 MIM:117139|HGNC:HGNC:1851|Ensembl:ENSG00000115163 2 2p23.3 centromere protein A protein-coding CENPA centromere protein A O histone H3-like centromeric protein A|centromere autoantigen A|centromere protein A, 17kDa|centromere-specific histone 20210926 - 9606 1059 CENPB - - MIM:117140|HGNC:HGNC:1852|Ensembl:ENSG00000125817 20 20p13 centromere protein B protein-coding CENPB centromere protein B O major centromere autoantigen B|CENP-B|centromere autoantigen B|centromere protein B, 80kDa 20211017 - 9606 1060 CENPC - CENP-C|CENPC1|MIF2|hcp-4 MIM:117141|HGNC:HGNC:1854|Ensembl:ENSG00000145241 4 4q13.2 centromere protein C protein-coding CENPC centromere protein C O centromere protein C|CENP-C 1|centromere autoantigen C|centromere autoantigen C1|centromere protein C 1|interphase centromere complex protein 7 20210708 - 9606 1061 CENPCP1 - CENPC|CENPC1P1|CENPC2 HGNC:HGNC:1855|Ensembl:ENSG00000226982 12 12q21.33 centromere protein C pseudogene 1 pseudo CENPCP1 centromere protein C pseudogene 1 O centromere protein C 1 pseudogene 1|centromere protein C2, 140kDa pseudogene 20210611 - 9606 1062 CENPE - CENP-E|KIF10|MCPH13|PPP1R61 MIM:117143|HGNC:HGNC:1856|Ensembl:ENSG00000138778 4 4q24 centromere protein E protein-coding CENPE centromere protein E O centromere-associated protein E|Centromere autoantigen E (312kD)|centromere protein E, 312kDa|kinesin family member 10|kinesin-7|kinesin-related protein CENPE|protein phosphatase 1, regulatory subunit 61 20210926 - 9606 1063 CENPF - CENF|CILD31|PRO1779|STROMS|hcp-1 MIM:600236|HGNC:HGNC:1857|Ensembl:ENSG00000117724 1 1q41 centromere protein F protein-coding CENPF centromere protein F O centromere protein F|AH antigen|CENP-F kinetochore protein|cell-cycle-dependent 350K nuclear protein|centromere protein F, 350/400kDa|kinetochore protein CENPF|mitosin 20210919 - 9606 1066 CES1 - ACAT|CE-1|CEH|CES2|HMSE|HMSE1|PCE-1|REH|SES1|TGH|hCE-1 MIM:114835|HGNC:HGNC:1863|Ensembl:ENSG00000198848 16 16q12.2 carboxylesterase 1 protein-coding CES1 carboxylesterase 1 O liver carboxylesterase 1|acyl coenzyme A:cholesterol acyltransferase|brain carboxylesterase hBr1|carboxylesterase 1 (monocyte/macrophage serine esterase 1)|carboxylesterase 2 (liver)|cholesteryl ester hydrolase|cocaine carboxylesterase|egasyn|human monocyte/macrophage serine esterase 1|methylumbelliferyl-acetate deacetylase 1|monocyte/macrophage serine esterase|retinyl ester hydrolase|serine esterase 1|triacylglycerol hydrolase 20211017 - 9606 1068 CETN1 - CEN1|CETN MIM:603187|HGNC:HGNC:1866|Ensembl:ENSG00000177143 18 18p11.32 centrin 1 protein-coding CETN1 centrin 1 O centrin-1|EF-hand protein|calcium binding protein|caltractin|centrin, EF-hand protein, 1|testicular tissue protein Li 37 20210708 - 9606 1069 CETN2 - CALT|CEN2 MIM:300006|HGNC:HGNC:1867|Ensembl:ENSG00000147400 X Xq28 centrin 2 protein-coding CETN2 centrin 2 O centrin-2|caltractin (20kD calcium-binding protein)|centrin, EF-hand protein, 2 20210708 - 9606 1070 CETN3 - CDC31|CEN3 MIM:602907|HGNC:HGNC:1868|Ensembl:ENSG00000153140 5 5q14.3 centrin 3 protein-coding CETN3 centrin 3 O centrin-3|CDC31 yeast homolog|EF-hand superfamily member|centrin, EF-hand protein, 3 (CDC31 homolog, yeast) 20210708 - 9606 1071 CETP - BPIFF|HDLCQ10 MIM:118470|HGNC:HGNC:1869|Ensembl:ENSG00000087237 16 16q13 cholesteryl ester transfer protein protein-coding CETP cholesteryl ester transfer protein O cholesteryl ester transfer protein|BPI fold containing family F|cholesteryl ester transfer protein plasma|lipid transfer protein I 20211031 - 9606 1072 CFL1 - CFL|HEL-S-15|cofilin MIM:601442|HGNC:HGNC:1874|Ensembl:ENSG00000172757 11 11q13.1 cofilin 1 protein-coding CFL1 cofilin 1 O cofilin-1|18 kDa phosphoprotein|cofilin 1 (non-muscle)|epididymis secretory protein Li 15|p18 20211017 - 9606 1073 CFL2 - NEM7 MIM:601443|HGNC:HGNC:1875|Ensembl:ENSG00000165410 14 14q13.1 cofilin 2 protein-coding CFL2 cofilin 2 O cofilin-2|cofilin 2 (muscle)|nemaline myopathy type 7 20210906 - 9606 1074 CFL1P5 - CFLL1|CFLP5 HGNC:HGNC:1877 5 5q13.2 cofilin 1 pseudogene 5 pseudo CFL1P5 cofilin 1 pseudogene 5 O cofilin 1 (non-muscle) pseudogene 5|cofilin pseudogene 5|cofilin-like 1 20210611 - 9606 1075 CTSC - CPPI|DPP-I|DPP1|DPPI|HMS|JP|JPD|PALS|PDON1|PLS MIM:602365|HGNC:HGNC:2528|Ensembl:ENSG00000109861 11 11q14.2 cathepsin C protein-coding CTSC cathepsin C O dipeptidyl peptidase 1|cathepsin J|dipeptidyl transferase|dipeptidyl-peptidase I 20211003 - 9606 1080 CFTR - ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1 MIM:602421|HGNC:HGNC:1884|Ensembl:ENSG00000001626 7 7q31.2 CF transmembrane conductance regulator protein-coding CFTR CF transmembrane conductance regulator O cystic fibrosis transmembrane conductance regulator|cAMP-dependent chloride channel|channel conductance-controlling ATPase|cystic fibrosis transmembrane conductance regulating|cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 20211031 - 9606 1081 CGA - CG-ALPHA|FSHA|GPA1|GPHA1|GPHa|HCG|LHA|TSHA MIM:118850|HGNC:HGNC:1885|Ensembl:ENSG00000135346 6 6q14.3 glycoprotein hormones, alpha polypeptide protein-coding CGA glycoprotein hormones, alpha polypeptide O glycoprotein hormones alpha chain|FSH-alpha|LSH-alpha|TSH-alpha|anterior pituitary glycoprotein hormones common subunit alpha|choriogonadotropin alpha chain|chorionic gonadotrophin subunit alpha|chorionic gonadotropin, alpha polypeptide|follicle-stimulating hormone alpha chain|follicle-stimulating hormone alpha subunit|follitropin alpha chain|luteinizing hormone alpha chain|lutropin alpha chain|thyroid-stimulating hormone alpha chain|thyrotropin alpha chain 20211106 - 9606 1082 CGB3 - CGB|CGB5|CGB7|CGB8|LHB|hCGB MIM:118860|HGNC:HGNC:1886|Ensembl:ENSG00000104827 19 19q13.33 chorionic gonadotropin subunit beta 3 protein-coding CGB3 chorionic gonadotropin subunit beta 3 O choriogonadotropin subunit beta 3|CG-beta|chorionic gonadotrophin chain beta|chorionic gonadotropin beta 3 subunit|chorionic gonadotropin beta chain|chorionic gonadotropin beta subunit 3|chorionic gonadotropin chain beta|chorionic gonadotropin, beta polypeptide|luteinizing hormone beta subunit 20211028 - 9606 1083 CGF1 - - MIM:300082 X Xp11.22-qter cognitive function 1, social unknown - - - - 20191002 - 9606 1084 CEACAM3 - CD66D|CEA|CGM1|W264|W282 MIM:609142|HGNC:HGNC:1815|Ensembl:ENSG00000170956 19 19q13.2 CEA cell adhesion molecule 3 protein-coding CEACAM3 CEA cell adhesion molecule 3 O carcinoembryonic antigen-related cell adhesion molecule 3|CD66d antigen|carcinoembryonic antigen CGM1|carcinoembryonic antigen gene family member 1|carcinoembryonic antigen related cell adhesion molecule 3|nonspecific cross-reacting antigen 20210708 - 9606 1085 CEACAMP5 - CEACAM26P|CGM12 HGNC:HGNC:1827 19 19q13.2 CEA cell adhesion molecule pseudogene 5 pseudo CEACAMP5 CEA cell adhesion molecule pseudogene 5 O carcinoembryonic antigen gene family member 12|carcinoembryonic antigen related cell adhesion molecule pseudogene 5|carcinoembryonic antigen-related cell adhesion molecule 26, pseudogene 20210611 - 9606 1086 CEACAMP11 - CEACAM32P|CGM18 HGNC:HGNC:1823 19 19q13.31 CEA cell adhesion molecule pseudogene 11 pseudo CEACAMP11 CEA cell adhesion molecule pseudogene 11 O carcinoembryonic antigen gene family member 18|carcinoembryonic antigen related cell adhesion molecule pseudogene 11|carcinoembryonic antigen-related cell adhesion molecule 32, pseudogene 20210611 - 9606 1087 CEACAM7 - CGM2 MIM:619160|HGNC:HGNC:1819|Ensembl:ENSG00000007306 19 19q13.2 CEA cell adhesion molecule 7 protein-coding CEACAM7 CEA cell adhesion molecule 7 O carcinoembryonic antigen-related cell adhesion molecule 7|carcinoembryonic antigen CGM2|carcinoembryonic antigen gene family member 2|carcinoembryonic antigen related cell adhesion molecule 7 20210611 - 9606 1088 CEACAM8 - CD66b|CD67|CGM6|NCA-95 MIM:615747|HGNC:HGNC:1820|Ensembl:ENSG00000124469 19 19q13.2 CEA cell adhesion molecule 8 protein-coding CEACAM8 CEA cell adhesion molecule 8 O carcinoembryonic antigen-related cell adhesion molecule 8|CD67 antigen|carcinoembryonic antigen CGM6|carcinoembryonic antigen gene family member 6|carcinoembryonic antigen related cell adhesion molecule 8|non-specific cross-reacting antigen NCA-95 20210708 - 9606 1089 CEACAM4 - CGM7|CGM7_HUMAN|NCA MIM:619159|HGNC:HGNC:1816|Ensembl:ENSG00000105352 19 19q13.2 CEA cell adhesion molecule 4 protein-coding CEACAM4 CEA cell adhesion molecule 4 O carcinoembryonic antigen-related cell adhesion molecule 4|Nonspecific cross-reacting antigen (NCA)|carcinoembryonic antigen CGM7|carcinoembryonic antigen gene family member 7|carcinoembryonic antigen related cell adhesion molecule 4|carcinoembryonic antigen-related cell adhesion molecule 4-sv1|carcinoembryonic antigen-related cell adhesion molecule 4-sv2|non-specific cross-reacting antigen W236|nonspecific cross-reacting antigen W236 20211016 - 9606 1090 CEACAMP1 - CEACAM22P|CGM8 HGNC:HGNC:1821|Ensembl:ENSG00000233681 19 19q13.2 CEA cell adhesion molecule pseudogene 1 pseudo CEACAMP1 CEA cell adhesion molecule pseudogene 1 O carcinoembryonic antigen gene family member 8 (pseudogene)|carcinoembryonic antigen related cell adhesion molecule pseudogene 1|carcinoembryonic antigen-related cell adhesion molecule 22, pseudogene 20210611 - 9606 1091 CEACAMP2 - CEACAM23P|CGM9 HGNC:HGNC:1824 19 19q13.2 CEA cell adhesion molecule pseudogene 2 pseudo CEACAMP2 CEA cell adhesion molecule pseudogene 2 O carcinoembryonic antigen gene family member 9 (pseudogene)|carcinoembryonic antigen related cell adhesion molecule pseudogene 2|carcinoembryonic antigen-related cell adhesion molecule 23, pseudogene 20210611 - 9606 1092 CEACAMP3 - CEACAM24P|CGM10 HGNC:HGNC:1825 19 19q13.2 CEA cell adhesion molecule pseudogene 3 pseudo CEACAMP3 CEA cell adhesion molecule pseudogene 3 O carcinoembryonic antigen gene family member 10 (pseudogene)|carcinoembryonic antigen related cell adhesion molecule pseudogene 3|carcinoembryonic antigen-related cell adhesion molecule 24, pseudogene 20210611 - 9606 1093 CEACAMP4 - CEACAM25P|CGM11 HGNC:HGNC:1826 19 19q13.31 CEA cell adhesion molecule pseudogene 4 pseudo CEACAMP4 CEA cell adhesion molecule pseudogene 4 O carcinoembryonic antigen gene family member 11 (pseudogene)|carcinoembryonic antigen related cell adhesion molecule pseudogene 4|carcinoembryonic antigen-related cell adhesion molecule 25, pseudogene 20210611 - 9606 1094 CEACAMP6 - CEACAM27P|CGM13 HGNC:HGNC:1828 19 19q13.2 CEA cell adhesion molecule pseudogene 6 pseudo CEACAMP6 CEA cell adhesion molecule pseudogene 6 O carcinoembryonic antigen gene family member 13|carcinoembryonic antigen related cell adhesion molecule pseudogene 6|carcinoembryonic antigen-related cell adhesion molecule 27, pseudogene 20210611 - 9606 1095 CEACAMP7 - CEACAM28P|CGM14 HGNC:HGNC:1829|Ensembl:ENSG00000227349 19 19q13.31 CEA cell adhesion molecule pseudogene 7 pseudo CEACAMP7 CEA cell adhesion molecule pseudogene 7 O carcinoembryonic antigen gene family member 14|carcinoembryonic antigen related cell adhesion molecule pseudogene 7|carcinoembryonic antigen-related cell adhesion molecule 28, pseudogene 20210611 - 9606 1096 CEACAMP8 - CEACAM29P|CGM15 HGNC:HGNC:1830 19 19q13.31 CEA cell adhesion molecule pseudogene 8 pseudo CEACAMP8 CEA cell adhesion molecule pseudogene 8 O carcinoembryonic antigen gene family member 15|carcinoembryonic antigen related cell adhesion molecule pseudogene 8|carcinoembryonic antigen-related cell adhesion molecule 29, pseudogene 20210611 - 9606 1097 CEACAMP9 - CEACAM30P|CGM16 HGNC:HGNC:1831|Ensembl:ENSG00000230529 19 19q13.31 CEA cell adhesion molecule pseudogene 9 pseudo CEACAMP9 CEA cell adhesion molecule pseudogene 9 O carcinoembryonic antigen gene family member 16|carcinoembryonic antigen related cell adhesion molecule pseudogene 9|carcinoembryonic antigen-related cell adhesion molecule 30, pseudogene|pregnancy specific beta-1-glycoprotein 9 pseudogene 20210611 - 9606 1098 CEACAMP10 - CEACAM31P|CGM17 HGNC:HGNC:1822 19 19q13.31 CEA cell adhesion molecule pseudogene 10 pseudo CEACAMP10 CEA cell adhesion molecule pseudogene 10 O carcinoembryonic antigen gene family member 17|carcinoembryonic antigen related cell adhesion molecule pseudogene 10|carcinoembryonic antigen-related cell adhesion molecule 31, pseudogene|pregnancy specific beta-1-glycoprotein pseudogene 20210611 - 9606 1101 CHAD - SLRR4A MIM:602178|HGNC:HGNC:1909|Ensembl:ENSG00000136457 17 17q21.33 chondroadherin protein-coding CHAD chondroadherin O chondroadherin|cartilage leucine-rich protein|chondroadherin proteoglycan 20210905 - 9606 1102 RCBTB2 - CHC1L|RLG MIM:603524|HGNC:HGNC:1914|Ensembl:ENSG00000136161 13 13q14.2 RCC1 and BTB domain containing protein 2 protein-coding RCBTB2 RCC1 and BTB domain containing protein 2 O RCC1 and BTB domain-containing protein 2|RCC1-like G exchanging factor RLG|regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 20211029 - 9606 1103 CHAT - CHOACTASE|CMS1A|CMS1A2|CMS6 MIM:118490|HGNC:HGNC:1912|Ensembl:ENSG00000070748 10 10q11.23 choline O-acetyltransferase protein-coding CHAT choline O-acetyltransferase O choline O-acetyltransferase|acetyl CoA:choline O-acetyltransferase|choline acetylase 20211031 - 9606 1104 RCC1 - CHC1|RCC1-I MIM:179710|HGNC:HGNC:1913|Ensembl:ENSG00000180198 1 1p35.3 regulator of chromosome condensation 1 protein-coding RCC1 regulator of chromosome condensation 1 O regulator of chromosome condensation|cell cycle regulatory protein|guanine nucleotide-releasing protein 20211016 - 9606 1105 CHD1 - CHD-1|PILBOS MIM:602118|HGNC:HGNC:1915|Ensembl:ENSG00000153922 5 5q15-q21.1 chromodomain helicase DNA binding protein 1 protein-coding CHD1 chromodomain helicase DNA binding protein 1 O chromodomain-helicase-DNA-binding protein 1|ATP-dependent helicase CHD1 20210905 - 9606 1106 CHD2 - DEE94|EEOC MIM:602119|HGNC:HGNC:1917|Ensembl:ENSG00000173575 15 15q26.1 chromodomain helicase DNA binding protein 2 protein-coding CHD2 chromodomain helicase DNA binding protein 2 O chromodomain-helicase-DNA-binding protein 2|ATP-dependent helicase CHD2|CHD-2 20211009 - 9606 1107 CHD3 - Mi-2a|Mi2-ALPHA|SNIBCPS|ZFH MIM:602120|HGNC:HGNC:1918|Ensembl:ENSG00000170004 17 17p13.1 chromodomain helicase DNA binding protein 3 protein-coding CHD3 chromodomain helicase DNA binding protein 3 O chromodomain-helicase-DNA-binding protein 3|ATP-dependent helicase CHD3|CHD-3|hZFH|mi-2 autoantigen 240 kDa protein|zinc finger helicase|zinc-finger helicase (Snf2-like) 20210822 - 9606 1108 CHD4 - CHD-4|Mi-2b|Mi2-BETA|SIHIWES MIM:603277|HGNC:HGNC:1919|Ensembl:ENSG00000111642 12 12p13.31 chromodomain helicase DNA binding protein 4 protein-coding CHD4 chromodomain helicase DNA binding protein 4 O chromodomain-helicase-DNA-binding protein 4|ATP-dependent helicase CHD4|Mi-2 autoantigen 218 kDa protein 20211031 - 9606 1109 AKR1C4 - 3-alpha-HSD|C11|CDR|CHDR|DD-4|DD4|HAKRA MIM:600451|HGNC:HGNC:387|Ensembl:ENSG00000198610 10 10p15.1 aldo-keto reductase family 1 member C4 protein-coding AKR1C4 aldo-keto reductase family 1 member C4 O aldo-keto reductase family 1 member C4|3-alpha-HSD1|3alpha-hydroxysteroid 3-dehydrogenase|chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4|dihydrodiol dehydrogenase isozyme DD4|type I 3-alpha-hydroxysteroid dehydrogenase 20210708 - 9606 1111 CHEK1 - CHK1 MIM:603078|HGNC:HGNC:1925|Ensembl:ENSG00000149554 11 11q24.2 checkpoint kinase 1 protein-coding CHEK1 checkpoint kinase 1 O serine/threonine-protein kinase Chk1|CHK1 checkpoint homolog|Checkpoint, S. pombe, homolog of, 1|Chk1-S|cell cycle checkpoint kinase 20211031 - 9606 1112 FOXN3 - C14orf116|CHES1|PRO1635 MIM:602628|HGNC:HGNC:1928|Ensembl:ENSG00000053254 14 14q31.3-q32.11 forkhead box N3 protein-coding FOXN3 forkhead box N3 O forkhead box protein N3|checkpoint suppressor 1 20210613 - 9606 1113 CHGA - CGA MIM:118910|HGNC:HGNC:1929|Ensembl:ENSG00000100604 14 14q32.12 chromogranin A protein-coding CHGA chromogranin A O chromogranin-A|SP-I|betagranin (N-terminal fragment of chromogranin A)|catestatin|chromofungin|parathyroid secretory protein 1|pituitary secretory protein I 20211017 - 9606 1114 CHGB - SCG1 MIM:118920|HGNC:HGNC:1930|Ensembl:ENSG00000089199 20 20p12.3 chromogranin B protein-coding CHGB chromogranin B O secretogranin-1|cgB|secretogranin B|secretogranin I|sgI 20210708 - 9606 1116 CHI3L1 - ASRT7|CGP-39|GP-39|GP39|HC-gp39|HCGP-3P|YK-40|YKL-40|YKL40|YYL-40|hCGP-39 MIM:601525|HGNC:HGNC:1932|Ensembl:ENSG00000133048 1 1q32.1 chitinase 3 like 1 protein-coding CHI3L1 chitinase 3 like 1 O chitinase-3-like protein 1|39 kDa synovial protein|cartilage glycoprotein 39|chitinase 3-like 1 (cartilage glycoprotein-39) 20211031 - 9606 1117 CHI3L2 - CHIL2|YKL-39|YKL39 MIM:601526|HGNC:HGNC:1933|Ensembl:ENSG00000064886 1 1p13.2 chitinase 3 like 2 protein-coding CHI3L2 chitinase 3 like 2 O chitinase-3-like protein 2|chondrocyte protein 39 20211031 - 9606 1118 CHIT1 - CHI3|CHIT|CHITD MIM:600031|HGNC:HGNC:1936|Ensembl:ENSG00000133063 1 1q32.1 chitinase 1 protein-coding CHIT1 chitinase 1 O chitotriosidase-1|chitinase 1 (chitotriosidase)|plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase 20210919 - 9606 1119 CHKA - CHK|CK|CKI|EK MIM:118491|HGNC:HGNC:1937|Ensembl:ENSG00000110721 11 11q13.2 choline kinase alpha protein-coding CHKA choline kinase alpha O choline kinase alpha|CHETK-alpha|ethanolamine kinase 20210926 - 9606 1120 CHKB - CHETK|CHKL|CK|CKB|CKEKB|EK|EKB|MDCMC MIM:612395|HGNC:HGNC:1938|Ensembl:ENSG00000100288 22 22q13.33 choline kinase beta protein-coding CHKB choline kinase beta O choline/ethanolamine kinase|choline kinase-like protein|ethanolamine kinase beta 20210822 - 9606 1121 CHM - DXS540|GGTA|HSD-32|REP-1|TCD MIM:300390|HGNC:HGNC:1940|Ensembl:ENSG00000188419 X Xq21.2 CHM Rab escort protein protein-coding CHM CHM Rab escort protein O rab proteins geranylgeranyltransferase component A 1|CHM, Rab escort protein 1|choroideremia (Rab escort protein 1) 20211016 - 9606 1122 CHML - REP2 MIM:118825|HGNC:HGNC:1941|Ensembl:ENSG00000203668 1 1q43 CHM like Rab escort protein protein-coding CHML CHM like Rab escort protein O rab proteins geranylgeranyltransferase component A 2|CHM like Rab escort protein 2|choroideraemia-like protein|choroideremia-like (Rab escort protein 2)|choroideremia-like protein 20210708 - 9606 1123 CHN1 - ARHGAP2|CHN|DURS2|NC|RHOGAP2 MIM:118423|HGNC:HGNC:1943|Ensembl:ENSG00000128656 2 2q31.1 chimerin 1 protein-coding CHN1 chimerin 1 O N-chimaerin|A-chimaerin|Rho GTPase-activating protein 2|a2-chimaerin|alpha-chimerin|chimaerin 1|chimerin (chimaerin) 1|n-chimerin 20210919 - 9606 1124 CHN2 - ARHGAP3|BCH|CHN2-3|RHOGAP3 MIM:602857|HGNC:HGNC:1944|Ensembl:ENSG00000106069|Ensembl:ENSG00000285162 7 7p14.3 chimerin 2 protein-coding CHN2 chimerin 2 O beta-chimaerin|beta-chimerin|beta3-chimaerin|chimerin (chimaerin) 2|chimerin, beta-2|chimerin, testis-specific|rho-GTPase-activating protein 3 20210726 - 9606 1128 CHRM1 - HM1|M1|M1R MIM:118510|HGNC:HGNC:1950|Ensembl:ENSG00000168539 11 11q12.3 cholinergic receptor muscarinic 1 protein-coding CHRM1 cholinergic receptor muscarinic 1 O muscarinic acetylcholine receptor M1|acetylcholine receptor, muscarinic 1 20210708 - 9606 1129 CHRM2 - HM2 MIM:118493|HGNC:HGNC:1951|Ensembl:ENSG00000181072 7 7q33 cholinergic receptor muscarinic 2 protein-coding CHRM2 cholinergic receptor muscarinic 2 O muscarinic acetylcholine receptor M2|7TM receptor|acetylcholine receptor, muscarinic 2|muscarinic M2 receptor 20211031 - 9606 1130 LYST - CHS|CHS1|Mauve MIM:606897|HGNC:HGNC:1968|Ensembl:ENSG00000143669 1 1q42.3 lysosomal trafficking regulator protein-coding LYST lysosomal trafficking regulator O lysosomal-trafficking regulator|Chediak-Higashi syndrome 1|beige homolog 20211016 - 9606 1131 CHRM3 - EGBRS|HM3|PBS MIM:118494|HGNC:HGNC:1952|Ensembl:ENSG00000133019 1 1q43 cholinergic receptor muscarinic 3 protein-coding CHRM3 cholinergic receptor muscarinic 3 O muscarinic acetylcholine receptor M3|acetylcholine receptor, muscarinic 3|m3 muscarinic receptor 20210708 - 9606 1132 CHRM4 - HM4|M4R MIM:118495|HGNC:HGNC:1953|Ensembl:ENSG00000180720 11 11p11.2 cholinergic receptor muscarinic 4 protein-coding CHRM4 cholinergic receptor muscarinic 4 O muscarinic acetylcholine receptor M4|acetylcholine receptor, muscarinic 4 20210708 - 9606 1133 CHRM5 - HM5 MIM:118496|HGNC:HGNC:1954|Ensembl:ENSG00000184984 15 15q14 cholinergic receptor muscarinic 5 protein-coding CHRM5 cholinergic receptor muscarinic 5 O muscarinic acetylcholine receptor M5|acetylcholine receptor, muscarinic 5 20210708 - 9606 1134 CHRNA1 - ACHRA|ACHRD|CHRNA|CMS1A|CMS1B|CMS2A|FCCMS|SCCMS MIM:100690|HGNC:HGNC:1955|Ensembl:ENSG00000138435 2 2q31.1 cholinergic receptor nicotinic alpha 1 subunit protein-coding CHRNA1 cholinergic receptor nicotinic alpha 1 subunit O acetylcholine receptor subunit alpha|acetylcholine receptor, nicotinic, alpha 1 (muscle)|cholinergic receptor, nicotinic alpha 1|cholinergic receptor, nicotinic, alpha 1 (muscle)|cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)|muscle nicotinic acetylcholine receptor|nicotinic acetylcholine receptor alpha subunit|nicotinic cholinergic receptor alpha 1 20211031 - 9606 1135 CHRNA2 - - MIM:118502|HGNC:HGNC:1956|Ensembl:ENSG00000120903 8 8p21.2 cholinergic receptor nicotinic alpha 2 subunit protein-coding CHRNA2 cholinergic receptor nicotinic alpha 2 subunit O neuronal acetylcholine receptor subunit alpha-2|acetylcholine receptor, nicotinic, alpha 2 (neuronal)|cholinergic receptor, nicotinic alpha 2|cholinergic receptor, nicotinic, alpha 2 (neuronal)|cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal) 20210611 - 9606 1136 CHRNA3 - BAIPRCK|LNCR2|NACHRA3|PAOD2 MIM:118503|HGNC:HGNC:1957|Ensembl:ENSG00000080644 15 15q25.1 cholinergic receptor nicotinic alpha 3 subunit protein-coding CHRNA3 cholinergic receptor nicotinic alpha 3 subunit O neuronal acetylcholine receptor subunit alpha-3|cholinergic receptor, nicotinic alpha 3|cholinergic receptor, nicotinic, alpha 3 (neuronal)|cholinergic receptor, nicotinic, alpha polypeptide 3|neuronal nicotinic acetylcholine receptor, alpha3 subunit 20211002 - 9606 1137 CHRNA4 - BFNC|EBN|EBN1|NACHR|NACHRA4|NACRA4 MIM:118504|HGNC:HGNC:1958|Ensembl:ENSG00000101204 20 20q13.33 cholinergic receptor nicotinic alpha 4 subunit protein-coding CHRNA4 cholinergic receptor nicotinic alpha 4 subunit O neuronal acetylcholine receptor subunit alpha-4|cholinergic receptor, nicotinic alpha 4|cholinergic receptor, nicotinic, alpha 4 (neuronal)|cholinergic receptor, nicotinic, alpha polypeptide 4|neuronal nicotinic acetylcholine receptor alpha-4 subunit 20211017 - 9606 1138 CHRNA5 - LNCR2 MIM:118505|HGNC:HGNC:1959|Ensembl:ENSG00000169684 15 15q25.1 cholinergic receptor nicotinic alpha 5 subunit protein-coding CHRNA5 cholinergic receptor nicotinic alpha 5 subunit O neuronal acetylcholine receptor subunit alpha-5|Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5|acetylcholine receptor, nicotinic, alpha 5 (neuronal)|cholinergic receptor, nicotinic alpha 5|cholinergic receptor, nicotinic, alpha 5 (neuronal)|neuronal nicotinic acetylcholine receptor, alpha5 subunit 20211017 - 9606 1139 CHRNA7 - CHRNA7-2|NACHRA7 MIM:118511|HGNC:HGNC:1960|Ensembl:ENSG00000175344 15 15q13.3 cholinergic receptor nicotinic alpha 7 subunit protein-coding CHRNA7 cholinergic receptor nicotinic alpha 7 subunit O neuronal acetylcholine receptor subunit alpha-7|a7 nicotinic acetylcholine receptor|alpha 7 neuronal nicotinic acetylcholine receptor|alpha-7 nicotinic cholinergic receptor subunit|cholinergic receptor, nicotinic alpha 7|cholinergic receptor, nicotinic, alpha 7 (neuronal)|cholinergic receptor, nicotinic, alpha polypeptide 7|neuronal acetylcholine receptor protein, alpha-7 chain 20211031 - 9606 1140 CHRNB1 - ACHRB|CHRNB|CMS1D|CMS2A|CMS2C|SCCMS MIM:100710|HGNC:HGNC:1961|Ensembl:ENSG00000170175 17 17p13.1 cholinergic receptor nicotinic beta 1 subunit protein-coding CHRNB1 cholinergic receptor nicotinic beta 1 subunit O acetylcholine receptor subunit beta|acetylcholine receptor, nicotinic, beta 1 (muscle)|cholinergic receptor, nicotinic beta 1|cholinergic receptor, nicotinic, beta 1 (muscle)|cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) 20210809 - 9606 1141 CHRNB2 - EFNL3|nAChRB2 MIM:118507|HGNC:HGNC:1962|Ensembl:ENSG00000160716 1 1q21.3 cholinergic receptor nicotinic beta 2 subunit protein-coding CHRNB2 cholinergic receptor nicotinic beta 2 subunit O neuronal acetylcholine receptor subunit beta-2|acetylcholine receptor, nicotinic, beta 2 (neuronal)|beta2 human neuronal nicotinic acetylcholine receptor|cholinergic receptor, nicotinic beta 2|cholinergic receptor, nicotinic, beta 2 (neuronal)|cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)|neuronal nicotinic acetylcholine receptor beta 2 20211017 - 9606 1142 CHRNB3 - - MIM:118508|HGNC:HGNC:1963|Ensembl:ENSG00000147432 8 8p11.21 cholinergic receptor nicotinic beta 3 subunit protein-coding CHRNB3 cholinergic receptor nicotinic beta 3 subunit O neuronal acetylcholine receptor subunit beta-3|acetylcholine receptor, neuronal nicotinic, beta-3 subunit|acetylcholine receptor, nicotinic, beta 3 (neuronal)|cholinergic receptor, nicotinic beta 3|cholinergic receptor, nicotinic, beta 3 (neuronal)|cholinergic receptor, nicotinic, beta polypeptide 3 20210611 - 9606 1143 CHRNB4 - - MIM:118509|HGNC:HGNC:1964|Ensembl:ENSG00000117971 15 15q25.1 cholinergic receptor nicotinic beta 4 subunit protein-coding CHRNB4 cholinergic receptor nicotinic beta 4 subunit O neuronal acetylcholine receptor subunit beta-4|acetylcholine receptor, nicotinic, beta 4 (neuronal)|cholinergic receptor, nicotinic, beta 4 (neuronal)|cholinergic receptor, nicotinic, beta polypeptide 4|neuronal nicotinic receptor beta 4 subunit 20210708 - 9606 1144 CHRND - ACHRD|CMS2A|CMS3A|CMS3B|CMS3C|FCCMS|SCCMS MIM:100720|HGNC:HGNC:1965|Ensembl:ENSG00000135902 2 2q37.1 cholinergic receptor nicotinic delta subunit protein-coding CHRND cholinergic receptor nicotinic delta subunit O acetylcholine receptor subunit delta|acetylcholine receptor, nicotinic, delta (muscle)|cholinergic receptor, nicotinic delta|cholinergic receptor, nicotinic, delta (muscle)|cholinergic receptor, nicotinic, delta polypeptide 20210708 - 9606 1145 CHRNE - ACHRE|CMS1D|CMS1E|CMS2A|CMS4A|CMS4B|CMS4C|FCCMS|SCCMS MIM:100725|HGNC:HGNC:1966|Ensembl:ENSG00000108556 17 17p13.2 cholinergic receptor nicotinic epsilon subunit protein-coding CHRNE cholinergic receptor nicotinic epsilon subunit O acetylcholine receptor subunit epsilon|AchR epsilon subunit|acetylcholine receptor, nicotinic, epsilon (muscle)|cholinergic receptor, nicotinic epsilon|cholinergic receptor, nicotinic, epsilon (muscle)|cholinergic receptor, nicotinic, epsilon polypeptide 20210708 - 9606 1146 CHRNG - ACHRG MIM:100730|HGNC:HGNC:1967|Ensembl:ENSG00000196811 2 2q37.1 cholinergic receptor nicotinic gamma subunit protein-coding CHRNG cholinergic receptor nicotinic gamma subunit O acetylcholine receptor subunit gamma|acetylcholine receptor, muscle, gamma subunit|acetylcholine receptor, nicotinic, gamma (muscle)|cholinergic receptor, nicotinic gamma|cholinergic receptor, nicotinic, gamma (muscle)|cholinergic receptor, nicotinic, gamma polypeptide 20210611 - 9606 1147 CHUK - BPS2|IKBKA|IKK-alpha|IKK1|IKKA|NFKBIKA|TCF16 MIM:600664|HGNC:HGNC:1974|Ensembl:ENSG00000213341 10 10q24.31 component of inhibitor of nuclear factor kappa B kinase complex protein-coding CHUK component of inhibitor of nuclear factor kappa B kinase complex O inhibitor of nuclear factor kappa-B kinase subunit alpha|I-kappa-B kinase 1|I-kappa-B kinase-alpha|IKK-a kinase|IkB kinase alpha subunit|Nuclear factor NFkappaB inhibitor kinase alpha|TCF-16|conserved helix-loop-helix ubiquitous kinase|transcription factor 16 20210905 - 9606 1149 CIDEA - CIDE-A MIM:604440|HGNC:HGNC:1976|Ensembl:ENSG00000176194 18 18p11.21|18 cell death inducing DFFA like effector a protein-coding CIDEA cell death inducing DFFA like effector a O cell death activator CIDE-A 20210708 - 9606 1152 CKB - B-CK|BCK|CKBB|CPK-B|HEL-211|HEL-S-29 MIM:123280|HGNC:HGNC:1991|Ensembl:ENSG00000166165 14 14q32.33 creatine kinase B protein-coding CKB creatine kinase B O creatine kinase B-type|brain creatine kinase|creatine kinase B chain|creatine kinase brain|creatine kinase brain-type|creatine phosphokinase B-type|epididymis luminal protein 211|epididymis secretory protein Li 29 20210905 - 9606 1153 CIRBP - CIRP MIM:602649|HGNC:HGNC:1982|Ensembl:ENSG00000099622 19 19p13.3 cold inducible RNA binding protein protein-coding CIRBP cold inducible RNA binding protein O cold-inducible RNA-binding protein|A18 hnRNP|glycine-rich RNA binding protein|testicular tissue protein Li 39 20210905 - 9606 1154 CISH - BACTS2|CIS|CIS-1|G18|SOCS MIM:602441|HGNC:HGNC:1984|Ensembl:ENSG00000114737 3 3p21.2 cytokine inducible SH2 containing protein protein-coding CISH cytokine inducible SH2 containing protein O cytokine-inducible SH2-containing protein|cytokine-inducible inhibitor of signaling type 1B|suppressor of cytokine signaling 20210802 - 9606 1155 TBCB - CG22|CKAP1|CKAPI MIM:601303|HGNC:HGNC:1989|Ensembl:ENSG00000105254 19 19q13.12 tubulin folding cofactor B protein-coding TBCB tubulin folding cofactor B O tubulin-folding cofactor B|cytoskeleton associated protein 1|cytoskeleton-associated protein CKAPI|tubulin-specific chaperone B 20210611 - 9606 1156 CKBE - - MIM:123270 14 14q32 creatine kinase, ectopic expression unknown - - - - 20191002 - 9606 1157 CKBP1 - - HGNC:HGNC:1993 16 16q11.2 creatine kinase B pseudogene 1 pseudo CKBP1 creatine kinase B pseudogene 1 O brain creatine kinase pseudogene 20210611 - 9606 1158 CKM - CKMM|CPK-M|M-CK MIM:123310|HGNC:HGNC:1994|Ensembl:ENSG00000104879 19 19q13.32 creatine kinase, M-type protein-coding CKM creatine kinase, M-type O creatine kinase M-type|creatine kinase M chain|creatine kinase, muscle|creatine phosphokinase M-type 20210905 - 9606 1159 CKMT1B - CKMT|CKMT1|UMTCK MIM:123290|HGNC:HGNC:1995|Ensembl:ENSG00000237289 15 15q15.3 creatine kinase, mitochondrial 1B protein-coding CKMT1B creatine kinase, mitochondrial 1B O creatine kinase U-type, mitochondrial|U-MtCK|acidic-type mitochondrial creatine kinase|creatine kinase, mitochondrial 1 (ubiquitous)|mia-CK|ubiquitous mitochondrial creatine kinase 20210708 - 9606 1160 CKMT2 - SMTCK MIM:123295|HGNC:HGNC:1996|Ensembl:ENSG00000131730 5 5q14.1 creatine kinase, mitochondrial 2 protein-coding CKMT2 creatine kinase, mitochondrial 2 O creatine kinase S-type, mitochondrial|S-MtCK|basic-type mitochondrial creatine kinase|creatine kinase, mitochondrial 2 (sarcomeric)|mib-CK|sarcomeric mitochondrial creatine kinase 20211009 - 9606 1161 ERCC8 - CKN1|CSA|UVSS2 MIM:609412|HGNC:HGNC:3439|Ensembl:ENSG00000049167 5 5q12.1 ERCC excision repair 8, CSA ubiquitin ligase complex subunit protein-coding ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit O DNA excision repair protein ERCC-8|Cockayne syndrome WD-repeat protein CSA|cockayne syndrome WD repeat protein CSA|excision repair cross-complementation group 8|excision repair cross-complementing rodent repair deficiency, complementation group 8 20211031 - 9606 1163 CKS1B - CKS1|PNAS-16|PNAS-18|ckshs1 MIM:116900|HGNC:HGNC:19083|Ensembl:ENSG00000173207 1 1q21.3 CDC28 protein kinase regulatory subunit 1B protein-coding CKS1B CDC28 protein kinase regulatory subunit 1B O cyclin-dependent kinases regulatory subunit 1|CDC2-associated protein CKS1|CDC28 protein kinase 1B|NB4 apoptosis/differentiation related protein|cell division control protein CKS1 20211026 - 9606 1164 CKS2 - CKSHS2 MIM:116901|HGNC:HGNC:2000|Ensembl:ENSG00000123975 9 9q22.2 CDC28 protein kinase regulatory subunit 2 protein-coding CKS2 CDC28 protein kinase regulatory subunit 2 O cyclin-dependent kinases regulatory subunit 2|CDC28 protein kinase 2|CKS-2|CKS1(S. cerevisiae Cdc28/Cdc2 kinase subunit) homolog-2 20210905 - 9606 1167 CLA3 - CPD1|SCAR6 MIM:608029 20 20q11-q13 cerebellar ataxia 3 (cerebellar parenchyma disorder 1) unknown - - - cerebellar ataxia, infantile nonprogressive, autosomal recessive|cerebellar parenchyma disorder 1 20191002 - 9606 1173 AP2M1 - AP50|CLAPM1|MRD60|mu2 MIM:601024|HGNC:HGNC:564|Ensembl:ENSG00000161203 3 3q27.1 adaptor related protein complex 2 subunit mu 1 protein-coding AP2M1 adaptor related protein complex 2 subunit mu 1 O AP-2 complex subunit mu|AP-2 mu 2 chain|HA2 50 kDA subunit|adaptin-mu2|adaptor protein complex AP-2 subunit mu|adaptor related protein complex 2 mu 1 subunit|adaptor-related protein complex 2 subunit mu|clathrin adaptor complex AP2, mu subunit|clathrin assembly protein complex 2 medium chain|clathrin assembly protein complex 2 mu medium chain|clathrin coat adaptor protein AP50|clathrin coat assembly protein AP50|clathrin coat-associated protein AP50|clathrin-associated/assembly/adaptor protein, medium 1|plasma membrane adaptor AP-2 50 kDa protein|plasma membrane adaptor AP-2 50kDA protein 20211017 - 9606 1174 AP1S1 - AP19|CLAPS1|EKV3|MEDNIK|SIGMA1A MIM:603531|HGNC:HGNC:559|Ensembl:ENSG00000106367 7 7q22.1 adaptor related protein complex 1 subunit sigma 1 protein-coding AP1S1 adaptor related protein complex 1 subunit sigma 1 O AP-1 complex subunit sigma-1A|HA1 19 kDa subunit|adapter-related protein complex 1 sigma-1A subunit|adaptor protein complex AP-1 subunit sigma-1A|adaptor related protein complex 1 sigma 1 subunit|adaptor-related protein complex 1 subunit sigma-1A|clathrin assembly protein complex 1 sigma-1A small chain|clathrin coat assembly protein AP19|clathrin-associated/assembly/adaptor protein, small 1 (19kD)|golgi adaptor HA1/AP1 adaptin sigma-1A subunit|sigma1A subunit of AP-1 clathrin adaptor complex|sigma1A-adaptin 20210708 - 9606 1175 AP2S1 - AP17|CLAPS2|FBH3|FBHOk|HHC3 MIM:602242|HGNC:HGNC:565|Ensembl:ENSG00000042753 19 19q13.32 adaptor related protein complex 2 subunit sigma 1 protein-coding AP2S1 adaptor related protein complex 2 subunit sigma 1 O AP-2 complex subunit sigma|HA2 17 kDa subunit|adaptor protein complex AP-2 subunit sigma|adaptor related protein complex 2 sigma 1 subunit|clathrin assembly protein 2 sigma small chain|clathrin coat assembly protein AP17|clathrin coat-associated protein AP17|clathrin-associated/assembly/adaptor protein, small 2 (17kD)|plasma membrane adaptor AP-2 17 kDa protein|sigma-2|sigma2-adaptin 20211017 - 9606 1176 AP3S1 - CLAPS3|Sigma3A MIM:601507|HGNC:HGNC:2013|Ensembl:ENSG00000177879 5 5q22.3-q23.1 adaptor related protein complex 3 subunit sigma 1 protein-coding AP3S1 adaptor related protein complex 3 subunit sigma 1 O AP-3 complex subunit sigma-1|adapter-related protein complex 3 subunit sigma-1|adaptor related protein complex 3 sigma 1 subunit|clathrin adaptor complex AP3, sigma-3A subunit|clathrin-associated/assembly/adapter protein, small 3|clathrin-associated/assembly/adaptor protein, small 3 (22kD)|sigma-adaptin 3a 20210704 - 9606 1178 CLC - GAL10|Gal-10|LGALS10|LGALS10A|LPPL_HUMAN MIM:153310|HGNC:HGNC:2014|Ensembl:ENSG00000105205 19 19q13.2 Charcot-Leyden crystal galectin protein-coding CLC Charcot-Leyden crystal galectin O galectin-10|Charcot-Leyden crystal protein|eosinophil lysophospholipase|lectin, galactoside-binding, soluble, 10|lysolecithin acylhydrolase 20210611 - 9606 1179 CLCA1 - CACC|CACC1|CLCRG1|CaCC-1|GOB5|hCLCA1|hCaCC-1 MIM:603906|HGNC:HGNC:2015|Ensembl:ENSG00000016490 1 1p22.3 chloride channel accessory 1 protein-coding CLCA1 chloride channel accessory 1 O calcium-activated chloride channel regulator 1|CLCA family member 1, chloride channel regulator|calcium-activated chloride channel family member 1|calcium-activated chloride channel protein 1|calcium-dependent chloride channel-1|chloride channel regulator 1|chloride channel, calcium activated, family member 1 20210708 - 9606 1180 CLCN1 - CLC1 MIM:118425|HGNC:HGNC:2019|Ensembl:ENSG00000188037 7 7q34 chloride voltage-gated channel 1 protein-coding CLCN1 chloride voltage-gated channel 1 O chloride channel protein 1|chloride channel 1, skeletal muscle|chloride channel protein, skeletal muscle|chloride channel, voltage-sensitive 1|clC-1 20211017 - 9606 1181 CLCN2 - CIC-2|CLC2|ECA2|ECA3|EGI11|EGI3|EGMA|EJM6|EJM8|HALD2|LKPAT|clC-2 MIM:600570|HGNC:HGNC:2020|Ensembl:ENSG00000114859 3 3q27.1 chloride voltage-gated channel 2 protein-coding CLCN2 chloride voltage-gated channel 2 O chloride channel protein 2|chloride channel 2|chloride channel, voltage-sensitive 2 20211016 - 9606 1182 CLCN3 - CLC3|ClC-3|NEDHYBA|NEDSBA MIM:600580|HGNC:HGNC:2021|Ensembl:ENSG00000109572 4 4q33 chloride voltage-gated channel 3 protein-coding CLCN3 chloride voltage-gated channel 3 O H(+)/Cl(-) exchange transporter 3|chloride channel 3|chloride channel protein 3|chloride channel, voltage-sensitive 3|chloride transporter ClC-3 20210910 - 9606 1183 CLCN4 - CLC4|ClC-4|ClC-4A|MRX15|MRX49|MRXSRC MIM:302910|HGNC:HGNC:2022|Ensembl:ENSG00000073464 X Xp22.2 chloride voltage-gated channel 4 protein-coding CLCN4 chloride voltage-gated channel 4 O H(+)/Cl(-) exchange transporter 4|chloride channel 4|chloride channel protein 4|chloride channel, voltage-sensitive 4|chloride transporter ClC-4 20211017 - 9606 1184 CLCN5 - CLC5|CLCK2|ClC-5|DENT1|DENTS|NPHL1|NPHL2|XLRH|XRN|hCIC-K2 MIM:300008|HGNC:HGNC:2023|Ensembl:ENSG00000171365 X Xp11.23 chloride voltage-gated channel 5 protein-coding CLCN5 chloride voltage-gated channel 5 O H(+)/Cl(-) exchange transporter 5|chloride channel, voltage-sensitive 5|chloride transporter ClC-5|voltage-gated chloride ion channel CLCN5 20211016 - 9606 1185 CLCN6 - CLC-6|CONRIBA MIM:602726|HGNC:HGNC:2024|Ensembl:ENSG00000011021 1 1p36.22 chloride voltage-gated channel 6 protein-coding CLCN6 chloride voltage-gated channel 6 O chloride transport protein 6|chloride channel, voltage-sensitive 6 20211017 - 9606 1186 CLCN7 - CLC-7|CLC7|HOD|OPTA2|OPTB4|PPP1R63 MIM:602727|HGNC:HGNC:2025|Ensembl:ENSG00000103249 16 16p13.3 chloride voltage-gated channel 7 protein-coding CLCN7 chloride voltage-gated channel 7 O H(+)/Cl(-) exchange transporter 7|chloride channel 7 alpha subunit|chloride channel protein 7|chloride channel, voltage-sensitive 7|protein phosphatase 1, regulatory subunit 63 20210919 - 9606 1187 CLCNKA - CLCK1|ClC-K1|hClC-Ka MIM:602024|HGNC:HGNC:2026|Ensembl:ENSG00000186510 1 1p36.13 chloride voltage-gated channel Ka protein-coding CLCNKA chloride voltage-gated channel Ka O chloride channel protein ClC-Ka|chloride channel Ka|chloride channel, kidney, A|chloride channel, voltage-sensitive Ka 20210708 - 9606 1188 CLCNKB - CLCKB|ClC-K2|ClC-Kb MIM:602023|HGNC:HGNC:2027|Ensembl:ENSG00000184908 1 1p36.13 chloride voltage-gated channel Kb protein-coding CLCNKB chloride voltage-gated channel Kb O chloride channel protein ClC-Kb|chloride channel, kidney, B|chloride channel, voltage-sensitive Kb 20210809 - 9606 1191 CLU - AAG4|APO-J|APOJ|CLI|CLU1|CLU2|KUB1|NA1/NA2|SGP-2|SGP2|SP-40|TRPM-2|TRPM2 MIM:185430|HGNC:HGNC:2095|Ensembl:ENSG00000120885 8 8p21.1 clusterin protein-coding CLU clusterin O clusterin|aging-associated protein 4|apolipoprotein J|complement cytolysis inhibitor|complement lysis inhibitor|complement-associated protein SP-40,40|epididymis secretory sperm binding protein|ku70-binding protein 1|sulfated glycoprotein 2|testosterone-repressed prostate message 2 20211031 - 9606 1192 CLIC1 - CL1C1|CLCNL1|G6|NCC27 MIM:602872|HGNC:HGNC:2062|Ensembl:ENSG00000213719 6 6p21.33 chloride intracellular channel 1 protein-coding CLIC1 chloride intracellular channel 1 O chloride intracellular channel protein 1|RNCC protein|chloride channel ABP|hRNCC|nuclear chloride ion channel 27|nuclear chloride ion channel protein|p64CLCP|regulatory nuclear chloride ion channel protein 20210919 - 9606 1193 CLIC2 - CLCNL2|CLIC2b|MRXS32|XAP121 MIM:300138|HGNC:HGNC:2063|Ensembl:ENSG00000155962 X Xq28 chloride intracellular channel 2 protein-coding CLIC2 chloride intracellular channel 2 O chloride intracellular channel protein 2 20210822 - 9606 1195 CLK1 - CLK|CLK/STY|STY MIM:601951|HGNC:HGNC:2068|Ensembl:ENSG00000013441 2 2q33.1 CDC like kinase 1 protein-coding CLK1 CDC like kinase 1 O dual specificity protein kinase CLK1|CDC28/CDC2-like kinase|protein tyrosine kinase STY 20211028 - 9606 1196 CLK2 - - MIM:602989|HGNC:HGNC:2069|Ensembl:ENSG00000176444 1 1q22 CDC like kinase 2 protein-coding CLK2 CDC like kinase 2 O dual specificity protein kinase CLK2|CLK kinase 20211028 - 9606 1197 CLK2P1 - CLK2P HGNC:HGNC:2070 7 7p15.3 CDC like kinase 2, pseudogene 1 pseudo CLK2P1 CDC like kinase 2, pseudogene 1 O CDC-like kinase 2, pseudogene 20210724 - 9606 1198 CLK3 - PHCLK3|PHCLK3/152 MIM:602990|HGNC:HGNC:2071|Ensembl:ENSG00000179335 15 15q24.1 CDC like kinase 3 protein-coding CLK3 CDC like kinase 3 O dual specificity protein kinase CLK3 20211028 - 9606 1200 TPP1 - CLN2|GIG1|LPIC|SCAR7|TPP-1 MIM:607998|HGNC:HGNC:2073|Ensembl:ENSG00000166340 11 11p15.4 tripeptidyl peptidase 1 protein-coding TPP1 tripeptidyl peptidase 1 O tripeptidyl-peptidase 1|cell growth-inhibiting gene 1 protein|growth-inhibiting protein 1|lysosomal pepstatin insensitive protease|lysosomal pepstatin-insensitive carboxypeptidase|tripeptidyl aminopeptidase|tripeptidyl peptidase I 20211017 - 9606 1201 CLN3 - BTN1|BTS|JNCL MIM:607042|HGNC:HGNC:2074|Ensembl:ENSG00000188603|Ensembl:ENSG00000261832 16 16p12.1 CLN3 lysosomal/endosomal transmembrane protein, battenin protein-coding CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin O battenin|CLN3, battenin|batten disease protein|ceroid-lipofuscinosis, neuronal 3 20211028 - 9606 1203 CLN5 - - MIM:608102|HGNC:HGNC:2076|Ensembl:ENSG00000102805 13 13q22.3 CLN5 intracellular trafficking protein protein-coding CLN5 CLN5 intracellular trafficking protein O ceroid-lipofuscinosis neuronal protein 5|ceroid-lipofuscinosis, neuronal 5 20210802 - 9606 1204 CLNS1AP1 - CLNS1B|ICln HGNC:HGNC:2081|Ensembl:ENSG00000213335 6 6p12.1 chloride nucleotide-sensitive channel 1A pseudogene 1 pseudo CLNS1AP1 chloride nucleotide-sensitive channel 1A pseudogene 1 O chloride channel, nucleotide-sensitive, 1A pseudogene 1|chloride channel, nucleotide-sensitive, 1B 20210611 - 9606 1207 CLNS1A - CLCI|CLNS1B|ICln MIM:602158|HGNC:HGNC:2080|Ensembl:ENSG00000074201 11 11q14.1 chloride nucleotide-sensitive channel 1A protein-coding CLNS1A chloride nucleotide-sensitive channel 1A O methylosome subunit pICln|chloride channel regulatory protein|chloride channel, nucleotide sensitive 1A|chloride conductance regulatory protein ICln|chloride ion current inducer protein|i(Cln)|reticulocyte pICln|reticulocyte protein ICln 20210905 - 9606 1208 CLPS - - MIM:120105|HGNC:HGNC:2085|Ensembl:ENSG00000137392 6 6p21.31 colipase protein-coding CLPS colipase O colipase|colipase, pancreatic|pancreatic colipase preproprotein 20210708 - 9606 1209 CLPTM1 - - MIM:604783|HGNC:HGNC:2087|Ensembl:ENSG00000104853 19 19q13.32 CLPTM1 regulator of GABA type A receptor forward trafficking protein-coding CLPTM1 CLPTM1 regulator of GABA type A receptor forward trafficking O cleft lip and palate transmembrane protein 1|CLPTM1, transmembrane protein|cleft lip and palate associated transmembrane protein 1 20211028 - 9606 1211 CLTA - LCA MIM:118960|HGNC:HGNC:2090|Ensembl:ENSG00000122705 9 9p13.3 clathrin light chain A protein-coding CLTA clathrin light chain A O clathrin light chain A|clathrin, light polypeptide (Lca) 20211016 - 9606 1212 CLTB - LCB MIM:118970|HGNC:HGNC:2091|Ensembl:ENSG00000175416 5 5q35.2 clathrin light chain B protein-coding CLTB clathrin light chain B O clathrin light chain B|clathrin, light chain (Lcb)|clathrin, light polypeptide (Lcb) 20210906 - 9606 1213 CLTC - CHC|CHC17|CLH-17|CLTCL2|Hc|MRD56 MIM:118955|HGNC:HGNC:2092|Ensembl:ENSG00000141367 17 17q23.1 clathrin heavy chain protein-coding CLTC clathrin heavy chain O clathrin heavy chain 1|clathrin heavy chain on chromosome 17|clathrin, heavy polypeptide (Hc)|clathrin, heavy polypeptide-like 2 20210905 - 9606 1215 CMA1 - CYH|MCT1|chymase MIM:118938|HGNC:HGNC:2097|Ensembl:ENSG00000092009 14 14q12 chymase 1 protein-coding CMA1 chymase 1 O chymase|alpha-chymase|chymase 1 preproprotein transcript E|chymase 1 preproprotein transcript I|chymase 1, mast cell|chymase, heart|chymase, mast cell|mast cell protease I 20210708 - 9606 1218 CMD1B - CMPD1|FDC MIM:600884 9 9q13-q22 cardiomyopathy, dilated 1B (autosomal dominant) unknown - - - - 20191002 - 9606 1230 CCR1 - CD191|CKR-1|CKR1|CMKBR1|HM145|MIP1aR|SCYAR1 MIM:601159|HGNC:HGNC:1602|Ensembl:ENSG00000163823 3 3p21.31 C-C motif chemokine receptor 1 protein-coding CCR1 C-C motif chemokine receptor 1 O C-C chemokine receptor type 1|C-C CKR-1|CC-CKR-1|CCR-1|LD78 receptor|MIP-1alpha-R|RANTES receptor|RANTES-R|chemokine (C-C motif) receptor 1|macrophage inflammatory protein 1-alpha receptor 20210816 - 9606 1232 CCR3 - C C CKR3|CC-CKR-3|CD193|CKR 3|CKR3|CMKBR3 MIM:601268|HGNC:HGNC:1604|Ensembl:ENSG00000183625 3 3p21.31 C-C motif chemokine receptor 3 protein-coding CCR3 C-C motif chemokine receptor 3 O C-C chemokine receptor type 3|C-C CKR-3|CC chemokine receptor 3|CCR-3|b-chemokine receptor|chemokine (C-C motif) receptor 3|eosinophil CC chemokine receptor 3|eosinophil eotaxin receptor 20210802 - 9606 1233 CCR4 - CC-CKR-4|CD194|CKR4|CMKBR4|ChemR13|HGCN:14099|K5-5 MIM:604836|HGNC:HGNC:1605|Ensembl:ENSG00000183813 3 3p22.3 C-C motif chemokine receptor 4 protein-coding CCR4 C-C motif chemokine receptor 4 O C-C chemokine receptor type 4|C-C CKR-4|CCR-4|chemokine (C-C motif) receptor 4|chemokine (C-C) receptor 4 20210919 - 9606 1234 CCR5 - CC-CKR-5|CCCKR5|CCR-5|CD195|CKR-5|CKR5|CMKBR5|IDDM22 MIM:601373|HGNC:HGNC:1606|Ensembl:ENSG00000160791 3 3p21.31 C-C motif chemokine receptor 5 protein-coding CCR5 C-C motif chemokine receptor 5 O C-C chemokine receptor type 5|C-C motif chemokine receptor 5 A159A|HIV-1 fusion coreceptor|chemokine (C-C motif) receptor 5|chemokine receptor CCR5|chemokine recptor CCR5 Delta32|chemr13|mutant C-C motif chemokine receptor 20211031 - 9606 1235 CCR6 - BN-1|C-C CKR-6|CC-CKR-6|CCR-6|CD196|CKR-L3|CKRL3|CMKBR6|DCR2|DRY6|GPR29|GPRCY4|STRL22 MIM:601835|HGNC:HGNC:1607|Ensembl:ENSG00000112486 6 6q27 C-C motif chemokine receptor 6 protein-coding CCR6 C-C motif chemokine receptor 6 O C-C chemokine receptor type 6|G protein-coupled receptor 29|LARC receptor|chemokine (C-C motif) receptor 6|chemokine (C-C) receptor 6|chemokine receptor-like 3|seven-transmembrane receptor, lymphocyte, 22 20211017 - 9606 1236 CCR7 - BLR2|CC-CKR-7|CCR-7|CD197|CDw197|CMKBR7|EBI1 MIM:600242|HGNC:HGNC:1608|Ensembl:ENSG00000126353 17 17q21.2 C-C motif chemokine receptor 7 protein-coding CCR7 C-C motif chemokine receptor 7 O C-C chemokine receptor type 7|Bukitt's lymphoma receptor 2|CC chemokine receptor 7|EBV-induced G protein-coupled receptor 1|Epstein-Barr virus induced gene 1|Epstein-Barr virus-induced G-protein coupled receptor 1|MIP-3 beta receptor|chemokine (C-C motif) receptor 7|lymphocyte-specific G protein-coupled peptide receptor 20211003 - 9606 1237 CCR8 - CC-CKR-8|CCR-8|CDw198|CKRL1|CMKBR8|CMKBRL2|CY6|GPRCY6|TER1 MIM:601834|HGNC:HGNC:1609|Ensembl:ENSG00000179934 3 3p22.1 C-C motif chemokine receptor 8 protein-coding CCR8 C-C motif chemokine receptor 8 O C-C chemokine receptor type 8|CC chemokine receptor 8|CC chemokine receptor CHEMR1|CC-chemokine receptor chemr1|chemokine (C-C motif) receptor 8|chemokine (C-C) receptor 8|chemokine (C-C) receptor-like 2|chemokine receptor-like 1 20210926 - 9606 1238 ACKR2 - CCBP2|CCR10|CCR9|CMKBR9|D6|hD6 MIM:602648|HGNC:HGNC:1565|Ensembl:ENSG00000144648 3 3p22.1 atypical chemokine receptor 2 protein-coding ACKR2 atypical chemokine receptor 2 O atypical chemokine receptor 2|C-C chemokine receptor D6|CC-chemokine-binding receptor JAB61|chemokine (C-C motif) receptor 9|chemokine (C-C) receptor 9|chemokine receptor CCR-10|chemokine receptor CCR-9|chemokine receptor D6|chemokine-binding protein 2|chemokine-binding protein D6 20210628 - 9606 1240 CMKLR1 - CHEMERINR|ChemR23|DEZ|RVER1 MIM:602351|HGNC:HGNC:2121|Ensembl:ENSG00000174600 12 12q23.3 chemerin chemokine-like receptor 1 protein-coding CMKLR1 chemerin chemokine-like receptor 1 O chemokine-like receptor 1|G-protein coupled receptor ChemR23|G-protein coupled receptor DEZ|chemerin receptor|chemokine receptor-like 1|orphan G-protein coupled receptor, Dez|resolvin E1 receptor 20211026 - 9606 1241 LTB4R - BLT1|BLTR|CMKRL1|GPR16|LTB4R1|LTBR1|P2RY7|P2Y7 MIM:601531|HGNC:HGNC:6713|Ensembl:ENSG00000213903 14 14q12 leukotriene B4 receptor protein-coding LTB4R leukotriene B4 receptor O leukotriene B4 receptor 1|G protein-coupled receptor 16|LTB4-R 1|LTB4-R1|P2Y purinoceptor 7|chemoattractant receptor-like 1|chemokine receptor-like 1|purinergic receptor P2Y, G-protein coupled, 7 20211026 - 9606 1243 CMM - CMM1|DNS|FAMMM|MLM MIM:155600 1 1p36 cutaneous malignant melanoma/dysplastic nevus unknown - - - dysplastic nevus syndrome 20191002 - 9606 1244 ABCC2 - ABC30|CMOAT|DJS|MRP2|cMRP MIM:601107|HGNC:HGNC:53|Ensembl:ENSG00000023839 10 10q24.2 ATP binding cassette subfamily C member 2 protein-coding ABCC2 ATP binding cassette subfamily C member 2 O ATP-binding cassette sub-family C member 2|ATP-binding cassette, sub-family C (CFTR/MRP), member 2|canalicular multidrug resistance protein|canalicular multispecific organic anion transporter 1|multidrug resistance-associated protein 2 20211031 - 9606 1253 CMTX2 - - MIM:302801 X Xp22 Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive) unknown - - - Charcot-Marie-Tooth disease, X-linked-2, recessive 20191002 - 9606 1254 CMTX3 - - MIM:302802 X Xq26 Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) unknown - - - - 20200624 - 9606 1255 CNA1 - - MIM:121400 12 12q cornea plana 1 (autosomal dominant) unknown - - - - 20191002 - 9606 1257 CNC2 - CNC MIM:605244 2 2p16 Carney complex type 2, multiple neoplasia and lentiginosis unknown - - - Carney complex, multiple neoplasia and lentiginosis 20191002 - 9606 1258 CNGB1 - CNCG2|CNCG3L|CNCG4|CNG4|CNGB1B|GAR1|GARP|GARP2|RCNC2|RCNCb|RCNCbeta|RP45 MIM:600724|HGNC:HGNC:2151|Ensembl:ENSG00000070729 16 16q21 cyclic nucleotide gated channel subunit beta 1 protein-coding CNGB1 cyclic nucleotide gated channel subunit beta 1 O cyclic nucleotide-gated cation channel beta-1|CNG channel beta-1|CNG-4|cyclic nucleotide gated channel beta 1|cyclic nucleotide-gated cation channel 4|cyclic nucleotide-gated cation channel gamma|cyclic nucleotide-gated cation channel modulatory subunit|glutamic-acid-rich protein 20210906 - 9606 1259 CNGA1 - CNCG|CNCG1|CNG-1|CNG1|RCNC1|RCNCa|RCNCalpha|RP49 MIM:123825|HGNC:HGNC:2148|Ensembl:ENSG00000198515 4 4p12 cyclic nucleotide gated channel subunit alpha 1 protein-coding CNGA1 cyclic nucleotide gated channel subunit alpha 1 O cGMP-gated cation channel alpha-1|CNG channel alpha-1|cyclic nucleotide gated channel alpha 1|cyclic nucleotide-gated cation channel 1|cyclic nucleotide-gated channel, photoreceptor|interleukin-1 homologue|rod photoreceptor cGMP-gated channel subunit alpha 20211016 - 9606 1260 CNGA2 - CNCA|CNCA1|CNG2|OCNC1|OCNCALPHA|OCNCa MIM:300338|HGNC:HGNC:2149|Ensembl:ENSG00000183862 X Xq28 cyclic nucleotide gated channel subunit alpha 2 protein-coding CNGA2 cyclic nucleotide gated channel subunit alpha 2 O cyclic nucleotide-gated olfactory channel|CNG channel alpha-2|cyclic nucleotide gated channel alpha 2|cyclic-nucleotide-gated cation channel 2 20210708 - 9606 1261 CNGA3 - ACHM2|CCNC1|CCNCa|CCNCalpha|CNCG3|CNG3 MIM:600053|HGNC:HGNC:2150|Ensembl:ENSG00000144191 2 2q11.2 cyclic nucleotide gated channel subunit alpha 3 protein-coding CNGA3 cyclic nucleotide gated channel subunit alpha 3 O cyclic nucleotide-gated cation channel alpha-3|CNG channel alpha-3|CNG-3|cone photoreceptor cGMP-gated channel alpha subunit|cone photoreceptor cGMP-gated channel subunit alpha|cyclic nucleotide gated channel alpha 3 20211014 - 9606 1262 CNGA4 - CNCA2|CNG-4|CNG4|CNG5|CNGB2|OCNC2|OCNCBETA|OCNCb MIM:609472|HGNC:HGNC:2152|Ensembl:ENSG00000132259 11 11p15.4 cyclic nucleotide gated channel subunit alpha 4 protein-coding CNGA4 cyclic nucleotide gated channel subunit alpha 4 O cyclic nucleotide-gated cation channel alpha-4|CNG channel alpha-4|cyclic nucleotide gated channel alpha 4|cyclic nucleotide gated channel beta 2 20210708 - 9606 1263 PLK3 - CNK|FNK|PLK-3|PRK MIM:602913|HGNC:HGNC:2154|Ensembl:ENSG00000173846 1 1p34.1 polo like kinase 3 protein-coding PLK3 polo like kinase 3 O serine/threonine-protein kinase PLK3|FGF-inducible kinase|cytokine-inducible serine/threonine-protein kinase|proliferation-related kinase 20211028 - 9606 1264 CNN1 - HEL-S-14|SMCC|Sm-Calp MIM:600806|HGNC:HGNC:2155|Ensembl:ENSG00000130176 19 19p13.2 calponin 1 protein-coding CNN1 calponin 1 O calponin-1|basic calponin|calponin 1, basic, smooth muscle|calponin H1, smooth muscle|calponins, basic|epididymis secretory protein Li 14 20210708 - 9606 1265 CNN2 - - MIM:602373|HGNC:HGNC:2156|Ensembl:ENSG00000064666 19 19p13.3 calponin 2 protein-coding CNN2 calponin 2 O calponin-2|calponin H2, smooth muscle|neutral calponin 20210926 - 9606 1266 CNN3 - - MIM:602374|HGNC:HGNC:2157|Ensembl:ENSG00000117519 1 1p21.3 calponin 3 protein-coding CNN3 calponin 3 O calponin-3|calponin 3, acidic|dJ639P13.2.2 (acidic calponin 3) 20210704 - 9606 1267 CNP - CNP1|HLD20 MIM:123830|HGNC:HGNC:2158|Ensembl:ENSG00000173786 17 17q21.2 2',3'-cyclic nucleotide 3' phosphodiesterase protein-coding CNP 2',3'-cyclic nucleotide 3' phosphodiesterase O 2',3'-cyclic-nucleotide 3'-phosphodiesterase|2', 3' cyclic nucleotide 3' phosphohydrolase|CNPase 20210912 - 9606 1268 CNR1 - CANN6|CB-R|CB1|CB1A|CB1K5|CB1R|CNR MIM:114610|HGNC:HGNC:2159|Ensembl:ENSG00000118432 6 6q15 cannabinoid receptor 1 protein-coding CNR1 cannabinoid receptor 1 O cannabinoid receptor 1|cannabinoid receptor 1 (brain)|central cannabinoid receptor 20211017 - 9606 1269 CNR2 - CB-2|CB2|CX5 MIM:605051|HGNC:HGNC:2160|Ensembl:ENSG00000188822 1 1p36.11 cannabinoid receptor 2 protein-coding CNR2 cannabinoid receptor 2 O cannabinoid receptor 2|cannabinoid receptor 2 (macrophage) 20211017 - 9606 1270 CNTF - HCNTF MIM:118945|HGNC:HGNC:2169|Ensembl:ENSG00000242689 11 11q12.1 ciliary neurotrophic factor protein-coding CNTF ciliary neurotrophic factor O ciliary neurotrophic factor|Ciliary Neuronotrophic Factor 20210711 - 9606 1271 CNTFR - - MIM:118946|HGNC:HGNC:2170|Ensembl:ENSG00000122756 9 9p13.3 ciliary neurotrophic factor receptor protein-coding CNTFR ciliary neurotrophic factor receptor O ciliary neurotrophic factor receptor subunit alpha|CNTF receptor subunit alpha|CNTFR-alpha 20210711 - 9606 1272 CNTN1 - F3|GP135|MYPCN MIM:600016|HGNC:HGNC:2171|Ensembl:ENSG00000018236 12 12q12 contactin 1 protein-coding CNTN1 contactin 1 O contactin-1|glycoprotein gP135|neural cell surface protein F3 20211029 - 9606 1275 COD2 - CORDX2 MIM:300085 X Xq27 cone dystrophy 2 (X-linked) unknown - - - - 20191002 - 9606 1277 COL1A1 - CAFYD|EDSARTH1|EDSC|OI1|OI2|OI3|OI4 MIM:120150|HGNC:HGNC:2197|Ensembl:ENSG00000108821 17 17q21.33 collagen type I alpha 1 chain protein-coding COL1A1 collagen type I alpha 1 chain O collagen alpha-1(I) chain|alpha-1 type I collagen|alpha1(I) procollagen|collagen alpha 1 chain type I|collagen alpha-1(I) chain preproprotein|collagen of skin, tendon and bone, alpha-1 chain|collagen, type I, alpha 1|pro-alpha-1 collagen type 1|type I proalpha 1|type I procollagen alpha 1 chain 20211026 - 9606 1278 COL1A2 - EDSARTH2|EDSCV|OI4 MIM:120160|HGNC:HGNC:2198|Ensembl:ENSG00000164692 7 7q21.3 collagen type I alpha 2 chain protein-coding COL1A2 collagen type I alpha 2 chain O collagen alpha-2(I) chain|alpha 2 type I procollagen|alpha 2(I) procollagen|alpha 2(I)-collagen|alpha-2 type I collagen|collagen I, alpha-2 polypeptide|collagen of skin, tendon and bone, alpha-2 chain|collagen, type I, alpha 2|epididymis secretory sperm binding protein|type I procollagen 20211031 - 9606 1279 COL1AR - COLR MIM:120340|HGNC:HGNC:2199 15 - collagen type I alpha receptor unknown COL1AR collagen type I alpha receptor O Collagen I, alpha, receptor 20190324 - 9606 1280 COL2A1 - ANFH|AOM|COL11A3|SEDC|STL1 MIM:120140|HGNC:HGNC:2200|Ensembl:ENSG00000139219 12 12q13.11 collagen type II alpha 1 chain protein-coding COL2A1 collagen type II alpha 1 chain O collagen alpha-1(II) chain|alpha-1 type II collagen|arthroophthalmopathy, progressive (Stickler syndrome)|cartilage collagen|chondrocalcin|collagen II, alpha-1 polypeptide|collagen, type II, alpha 1 20211031 - 9606 1281 COL3A1 - EDS4A|EDSVASC|PMGEDSV MIM:120180|HGNC:HGNC:2201|Ensembl:ENSG00000168542 2 2q32.2 collagen type III alpha 1 chain protein-coding COL3A1 collagen type III alpha 1 chain O collagen alpha-1(III) chain|Ehlers-Danlos syndrome type IV, autosomal dominant|alpha-1 type III collagen|alpha1 (III) collagen|collagen, fetal|collagen, type III, alpha 1 20211026 - 9606 1282 COL4A1 - BSVD|BSVD1|COL4A1s|PADMAL|RATOR MIM:120130|HGNC:HGNC:2202|Ensembl:ENSG00000187498 13 13q34 collagen type IV alpha 1 chain protein-coding COL4A1 collagen type IV alpha 1 chain O collagen alpha-1(IV) chain|COL4A1 NC1 domain|arresten|collagen IV, alpha-1 polypeptide|collagen of basement membrane, alpha-1 chain 20211003 - 9606 1283 CTD - - MIM:300216 - - Coats disease unknown - - - - 20191002 - 9606 1284 COL4A2 - BSVD2|ICH|POREN2 MIM:120090|HGNC:HGNC:2203|Ensembl:ENSG00000134871 13 13q34 collagen type IV alpha 2 chain protein-coding COL4A2 collagen type IV alpha 2 chain O collagen alpha-2(IV) chain|canstatin 20211017 - 9606 1285 COL4A3 - ATS2|ATS3 MIM:120070|HGNC:HGNC:2204|Ensembl:ENSG00000169031 2 2q36.3 collagen type IV alpha 3 chain protein-coding COL4A3 collagen type IV alpha 3 chain O collagen alpha-3(IV) chain|collagen IV, alpha-3 polypeptide|collagen, type IV, alpha 3 (Goodpasture antigen)|tumstatin 20210816 - 9606 1286 COL4A4 - ATS2|BFH|CA44 MIM:120131|HGNC:HGNC:2206|Ensembl:ENSG00000081052 2 2q36.3 collagen type IV alpha 4 chain protein-coding COL4A4 collagen type IV alpha 4 chain O collagen alpha-4(IV) chain|Collagen IV, alpha-4 polypeptide|collagen of basement membrane, alpha-4 chain|collagen, type IV, alpha 4 20210719 - 9606 1287 COL4A5 - ASLN|ATS|ATS1|CA54 MIM:303630|HGNC:HGNC:2207|Ensembl:ENSG00000188153 X Xq22.3 collagen type IV alpha 5 chain protein-coding COL4A5 collagen type IV alpha 5 chain O collagen alpha-5(IV) chain|collagen IV, alpha-5 polypeptide|collagen of basement membrane, alpha-5 chain|collagen, type IV, alpha 5|dA149D17.3|dA24A23.1 20211003 - 9606 1288 COL4A6 - CXDELq22.3|DELXq22.3|DFNX6 MIM:303631|HGNC:HGNC:2208|Ensembl:ENSG00000197565 X Xq22.3 collagen type IV alpha 6 chain protein-coding COL4A6 collagen type IV alpha 6 chain O collagen alpha-6(IV) chain|collagen IV, alpha-6 polypeptide|collagen of basement membrane, alpha-6|collagen, type IV, alpha 6|dJ889N15.4 (Collagen Alpha 6(IV)) 20210708 - 9606 1289 COL5A1 - EDSC|EDSCL1|FMDMF MIM:120215|HGNC:HGNC:2209|Ensembl:ENSG00000130635 9 9q34.3 collagen type V alpha 1 chain protein-coding COL5A1 collagen type V alpha 1 chain O collagen alpha-1(V) chain|collagen, type V, alpha 1 20211031 - 9606 1290 COL5A2 - EDSC|EDSCL2 MIM:120190|HGNC:HGNC:2210|Ensembl:ENSG00000204262 2 2q32.2 collagen type V alpha 2 chain protein-coding COL5A2 collagen type V alpha 2 chain O collagen alpha-2(V) chain|AB collagen|collagen, fetal membrane, A polypeptide|type V preprocollagen alpha 2 chain 20211031 - 9606 1291 COL6A1 - BTHLM1|OPLL|UCHMD1 MIM:120220|HGNC:HGNC:2211|Ensembl:ENSG00000142156 21 21q22.3 collagen type VI alpha 1 chain protein-coding COL6A1 collagen type VI alpha 1 chain O collagen alpha-1(VI) chain|alpha 1 (VI) chain (61 AA)|collagen VI, alpha-1 polypeptide|collagen, type VI, alpha 1|epididymis secretory sperm binding protein 20211031 - 9606 1292 COL6A2 - BTHLM1|PP3610|UCMD1 MIM:120240|HGNC:HGNC:2212|Ensembl:ENSG00000142173 21 21q22.3 collagen type VI alpha 2 chain protein-coding COL6A2 collagen type VI alpha 2 chain O collagen alpha-2(VI) chain|collagen VI, alpha-2 polypeptide|collagen, type VI, alpha 2|epididymis secretory sperm binding protein|human mRNA for collagen VI alpha-2 C-terminal globular domain 20210904 - 9606 1293 COL6A3 - BTHLM1|DYT27|UCMD1 MIM:120250|HGNC:HGNC:2213|Ensembl:ENSG00000163359 2 2q37.3 collagen type VI alpha 3 chain protein-coding COL6A3 collagen type VI alpha 3 chain O collagen alpha-3(VI) chain|collagen VI, alpha-3 polypeptide|collagen, type VI, alpha 3|epididymis secretory sperm binding protein 20210926 - 9606 1294 COL7A1 - EBD1|EBDCT|EBR1|NDNC8 MIM:120120|HGNC:HGNC:2214|Ensembl:ENSG00000114270 3 3p21.31 collagen type VII alpha 1 chain protein-coding COL7A1 collagen type VII alpha 1 chain O collagen alpha-1(VII) chain|LC collagen|collagen VII, alpha-1 polypeptide|collagen, type VII, alpha 1|long-chain collagen 20211031 - 9606 1295 COL8A1 - C3orf7 MIM:120251|HGNC:HGNC:2215|Ensembl:ENSG00000144810 3 3q12.1 collagen type VIII alpha 1 chain protein-coding COL8A1 collagen type VIII alpha 1 chain O collagen alpha-1(VIII) chain|cell proliferation-inducing protein 41|collagen VIII, alpha-1 polypeptide|collagen, type VIII, alpha 1|endothelial collagen|smag-64|smooth muscle cell-expressed and macrophage conditioned medium-induced protein smag-64 20210708 - 9606 1296 COL8A2 - FECD|FECD1|PPCD|PPCD2 MIM:120252|HGNC:HGNC:2216|Ensembl:ENSG00000171812 1 1p34.3 collagen type VIII alpha 2 chain protein-coding COL8A2 collagen type VIII alpha 2 chain O collagen alpha-2(VIII) chain|collagen VIII, alpha-2 polypeptide|collagen, type VIII, alpha 2|endothelial collagen 20210708 - 9606 1297 COL9A1 - DJ149L1.1.2|EDM6|MED|STL4 MIM:120210|HGNC:HGNC:2217|Ensembl:ENSG00000112280 6 6q13 collagen type IX alpha 1 chain protein-coding COL9A1 collagen type IX alpha 1 chain O collagen alpha-1(IX) chain|alpha-1(IX) collagen chain|cartilage-specific short collagen|collagen IX, alpha-1 polypeptide|collagen, type IX, alpha 1 20210708 - 9606 1298 COL9A2 - DJ39G22.4|EDM2|MED|STL5 MIM:120260|HGNC:HGNC:2218|Ensembl:ENSG00000049089 1 1p34.2 collagen type IX alpha 2 chain protein-coding COL9A2 collagen type IX alpha 2 chain O collagen alpha-2(IX) chain|alpha 2 type IX collagen|collagen IX, alpha-2 polypeptide|collagen, type IX, alpha 2 20211016 - 9606 1299 COL9A3 - DJ885L7.4.1|EDM3|IDD|MED MIM:120270|HGNC:HGNC:2219|Ensembl:ENSG00000092758 20 20q13.33 collagen type IX alpha 3 chain protein-coding COL9A3 collagen type IX alpha 3 chain O collagen alpha-3(IX) chain|collagen IX, alpha-3 polypeptide|collagen type IX proteoglycan|collagen, type IX, alpha 3 20211003 - 9606 1300 COL10A1 - - MIM:120110|HGNC:HGNC:2185|Ensembl:ENSG00000123500 6 6q22.1 collagen type X alpha 1 chain protein-coding COL10A1 collagen type X alpha 1 chain O collagen alpha-1(X) chain|Schmid metaphyseal chondrodysplasia|collagen X, alpha-1 polypeptide|collagen, type X, alpha 1 20210912 - 9606 1301 COL11A1 - CO11A1|COLL6|DFNA37|STL2 MIM:120280|HGNC:HGNC:2186|Ensembl:ENSG00000060718 1 1p21.1 collagen type XI alpha 1 chain protein-coding COL11A1 collagen type XI alpha 1 chain O collagen alpha-1(XI) chain|collagen XI, alpha-1 polypeptide|collagen, type XI, alpha 1|deafness, autosomal dominant 37 20211031 - 9606 1302 COL11A2 - DFNA13|DFNB53|FBCG2|HKE5|OSMEDA|OSMEDB|PARP|STL3 MIM:120290|HGNC:HGNC:2187|Ensembl:ENSG00000204248 6 6p21.32 collagen type XI alpha 2 chain protein-coding COL11A2 collagen type XI alpha 2 chain O collagen alpha-2(XI) chain|collagen, type XI, alpha 2|pro-a2 chain of collagen type XI 20210726 - 9606 1303 COL12A1 - BA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2 MIM:120320|HGNC:HGNC:2188|Ensembl:ENSG00000111799 6 6q13-q14.1 collagen type XII alpha 1 chain protein-coding COL12A1 collagen type XII alpha 1 chain O collagen alpha-1(XII) chain|collagen type XII proteoglycan|collagen, type XII, alpha 1 20211031 - 9606 1305 COL13A1 - CMS19|COLXIIIA1 MIM:120350|HGNC:HGNC:2190|Ensembl:ENSG00000197467 10 10q22.1 collagen type XIII alpha 1 chain protein-coding COL13A1 collagen type XIII alpha 1 chain O collagen alpha-1(XIII) chain|collagen, type XIII, alpha 1 20210708 - 9606 1306 COL15A1 - - MIM:120325|HGNC:HGNC:2192|Ensembl:ENSG00000204291 9 9q22.33 collagen type XV alpha 1 chain protein-coding COL15A1 collagen type XV alpha 1 chain O collagen alpha-1(XV) chain|collagen XV, alpha-1 polypeptide|collagen type XV proteoglycan|collagen, type XV, alpha 1|endostatin-XV|restin 20210708 - 9606 1307 COL16A1 - 447AA|FP1572 MIM:120326|HGNC:HGNC:2193|Ensembl:ENSG00000084636 1 1p35.2 collagen type XVI alpha 1 chain protein-coding COL16A1 collagen type XVI alpha 1 chain O collagen alpha-1(XVI) chain|alpha 1 type XVI collagen|collagen XVI, alpha-1 polypeptide|collagen, type XVI, alpha 1 20210708 - 9606 1308 COL17A1 - BA16H23.2|BP180|BPA-2|BPAG2|ERED|LAD-1 MIM:113811|HGNC:HGNC:2194|Ensembl:ENSG00000065618 10 10q25.1 collagen type XVII alpha 1 chain protein-coding COL17A1 collagen type XVII alpha 1 chain O collagen alpha-1(XVII) chain|180 kDa bullous pemphigoid antigen 2|alpha 1 type XVII collagen|bA16H23.2 (collagen, type XVII, alpha 1 (BP180))|bullous pemphigoid antigen 2 (180kD)|collagen XVII, alpha-1 polypeptide|collagen, type XVII, alpha 1|type XVII collagen alpha-1 20210912 - 9606 1310 COL19A1 - COL9A1L|D6S228E MIM:120165|HGNC:HGNC:2196|Ensembl:ENSG00000082293 6 6q13 collagen type XIX alpha 1 chain protein-coding COL19A1 collagen type XIX alpha 1 chain O collagen alpha-1(XIX) chain|a1 chain of type XIX collagen|collagen XIX, alpha-1 polypeptide|collagen alpha 1 (Y) chain|collagen, type XIX, alpha 1 20210708 - 9606 1311 COMP - CTS2|EDM1|EPD1|MED|PSACH|THBS5|TSP5 MIM:600310|HGNC:HGNC:2227|Ensembl:ENSG00000105664 19 19p13.11 cartilage oligomeric matrix protein protein-coding COMP cartilage oligomeric matrix protein O cartilage oligomeric matrix protein|cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)|pseudoachondroplasia (epiphyseal dysplasia 1, multiple)|thrombospondin-5 20211031 - 9606 1312 COMT - HEL-S-98n MIM:116790|HGNC:HGNC:2228|Ensembl:ENSG00000093010 22 22q11.21 catechol-O-methyltransferase protein-coding COMT catechol-O-methyltransferase O catechol O-methyltransferase|epididymis secretory sperm binding protein Li 98n|testicular tissue protein Li 42 20211031 - 9606 1314 COPA - AILJK|HEP-COP|alpha-COP MIM:601924|HGNC:HGNC:2230|Ensembl:ENSG00000122218 1 1q23.2 COPI coat complex subunit alpha protein-coding COPA COPI coat complex subunit alpha O coatomer subunit alpha|alpha coat protein|coatomer protein complex subunit alpha|proxenin|xenin 20210905 - 9606 1315 COPB1 - BARMACS|COPB MIM:600959|HGNC:HGNC:2231|Ensembl:ENSG00000129083 11 11p15.2 COPI coat complex subunit beta 1 protein-coding COPB1 COPI coat complex subunit beta 1 O coatomer subunit beta|beta coat protein|beta-cop|coatomer protein complex subunit beta 1 20211026 - 9606 1316 KLF6 - BCD1|CBA1|COPEB|CPBP|GBF|PAC1|ST12|ZF9 MIM:602053|HGNC:HGNC:2235|Ensembl:ENSG00000067082 10 10p15.2 Kruppel like factor 6 protein-coding KLF6 Kruppel like factor 6 O Krueppel-like factor 6|B-cell-derived protein 1|GC-rich binding factor|GC-rich sites-binding factor GBF|Kruppel-like zinc finger protein Zf9|core promoter element binding protein|proto-oncogene BCD1|protooncogene B-cell derived 1|suppression of tumorigenicity 12 (prostate)|suppressor of tumorigenicity 12 protein|transcription factor Zf9 20211003 - 9606 1317 SLC31A1 - COPT1|CTR1 MIM:603085|HGNC:HGNC:11016|Ensembl:ENSG00000136868 9 9q32 solute carrier family 31 member 1 protein-coding SLC31A1 solute carrier family 31 member 1 O high affinity copper uptake protein 1|copper transport 1 homolog|copper transporter 1|solute carrier family 31 (copper transporter), member 1|solute carrier family 31 (copper transporters), member 1 20210919 - 9606 1318 SLC31A2 - COPT2|CTR2|hCTR2 MIM:603088|HGNC:HGNC:11017|Ensembl:ENSG00000136867 9 9q32 solute carrier family 31 member 2 protein-coding SLC31A2 solute carrier family 31 member 2 O probable low affinity copper uptake protein 2|copper transporter 2|solute carrier family 31 (copper transporter), member 2|solute carrier family 31 (copper transporters), member 2 20210611 - 9606 1319 CORD1 - CORD|CRD1 MIM:600624 18 18q21.1-q21.3 cone rod dystrophy 1 (autosomal dominant) unknown - - - - 20191002 - 9606 1325 CORT - CST-14|CST-17|CST-29|SST2 MIM:602784|HGNC:HGNC:2257|Ensembl:ENSG00000241563 1 1p36.22 cortistatin protein-coding CORT cortistatin O cortistatin|cortistatin-14|cortistatin-17|cortistatin-29|prepro-cortistatin|preprocortistatin|somatostatin 2 20210719 - 9606 1326 MAP3K8 - AURA2|COT|EST|ESTF|MEKK8|TPL2|Tpl-2|c-COT MIM:191195|HGNC:HGNC:6860|Ensembl:ENSG00000107968 10 10p11.23 mitogen-activated protein kinase kinase kinase 8 protein-coding MAP3K8 mitogen-activated protein kinase kinase kinase 8 O mitogen-activated protein kinase kinase kinase 8|Ewing sarcoma transformant|augmented in rheumatoid arthritis 2|cot (cancer Osaka thyroid) oncogene|proto-oncogene c-Cot|proto-oncogene serine/threoine protein kinase|tumor progression locus 2 20211028 - 9606 1327 COX4I1 - COX IV-1|COX4|COX4-1|COXIV|COXIV-1|MC4DN16 MIM:123864|HGNC:HGNC:2265|Ensembl:ENSG00000131143 16 16q24.1 cytochrome c oxidase subunit 4I1 protein-coding COX4I1 cytochrome c oxidase subunit 4I1 O cytochrome c oxidase subunit 4 isoform 1, mitochondrial|cytochrome c oxidase polypeptide IV|cytochrome c oxidase subunit IV 20211030 - 9606 1329 COX5B - COXVB MIM:123866|HGNC:HGNC:2269|Ensembl:ENSG00000135940 2 2q11.2 cytochrome c oxidase subunit 5B protein-coding COX5B cytochrome c oxidase subunit 5B O cytochrome c oxidase subunit 5B, mitochondrial|cytochrome c oxidase polypeptide VB, mitochondrial|cytochrome c oxidase subunit Vb|epididymis secretory sperm binding protein 20210708 - 9606 1330 COX5BP1 - COX5BL1 HGNC:HGNC:2270 4 4q21.22 cytochrome c oxidase subunit 5B pseudogene 1 pseudo COX5BP1 cytochrome c oxidase subunit 5B pseudogene 1 O cytochrome c oxidase subunit Vb pseudogene 1|cytochrome c oxidase subunit Vb-like 1 20210611 - 9606 1331 COX5BP2 - COX5BL2 HGNC:HGNC:2271|Ensembl:ENSG00000213111 6 6q23.3 cytochrome c oxidase subunit 5B pseudogene 2 pseudo COX5BP2 cytochrome c oxidase subunit 5B pseudogene 2 O cytochrome c oxidase subunit Vb pseudogene 2|cytochrome c oxidase subunit Vb-like 2 20210611 - 9606 1332 COX5BP3 - COX5BL3 HGNC:HGNC:2272 7 7q33 cytochrome c oxidase subunit 5B pseudogene 3 pseudo COX5BP3 cytochrome c oxidase subunit 5B pseudogene 3 O cytochrome c oxidase subunit Vb pseudogene 3|cytochrome c oxidase subunit Vb-like 3 20210611 - 9606 1333 COX5BP4 - COX5BL4 HGNC:HGNC:2273 11 11q14.1 cytochrome c oxidase subunit 5B pseudogene 4 pseudo COX5BP4 cytochrome c oxidase subunit 5B pseudogene 4 O cytochrome c oxidase subunit Vb pseudogene 4|cytochrome c oxidase subunit Vb-like 4 20210611 - 9606 1336 COX5BP7 - COX5BL7 HGNC:HGNC:2276 22 22q13.1 cytochrome c oxidase subunit 5B pseudogene 7 pseudo COX5BP7 cytochrome c oxidase subunit 5B pseudogene 7 O cytochrome c oxidase subunit Vb pseudogene 7|cytochrome c oxidase subunit Vb-like 7 20210611 - 9606 1337 COX6A1 - CMTRID|COX6A|COX6AL MIM:602072|HGNC:HGNC:2277|Ensembl:ENSG00000111775 12 12q24.31|12q24.2 cytochrome c oxidase subunit 6A1 protein-coding COX6A1 cytochrome c oxidase subunit 6A1 O cytochrome c oxidase subunit 6A1, mitochondrial|COX VIa-L|cytochrome C oxidase subunit VIa homolog|cytochrome c oxidase polypeptide VIa-liver|cytochrome c oxidase subunit VIA-liver|cytochrome c oxidase subunit VIa liver isoform|cytochrome c oxidase subunit VIa polypeptide 1 20211021 - 9606 1338 COX6A1P1 - COX6A1P HGNC:HGNC:2278 1 1p31.1 cytochrome c oxidase subunit 6A1 pseudogene 1 pseudo COX6A1P1 cytochrome c oxidase subunit 6A1 pseudogene 1 O cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 1 20210611 - 9606 1339 COX6A2 - COX6AH|COXVIAH|COXVIa-M|MC4DN18 MIM:602009|HGNC:HGNC:2279|Ensembl:ENSG00000156885 16 16p11.2 cytochrome c oxidase subunit 6A2 protein-coding COX6A2 cytochrome c oxidase subunit 6A2 O cytochrome c oxidase subunit 6A2, mitochondrial|COX VIa-M|cytochrome c oxidase polypeptide VIa-heart|cytochrome c oxidase subunit VIA-muscle|cytochrome c oxidase subunit VIa polypeptide 2 20211026 - 9606 1340 COX6B1 - COX6B|COXG|COXVIb1|MC4DN7 MIM:124089|HGNC:HGNC:2280|Ensembl:ENSG00000126267 19 19q13.12 cytochrome c oxidase subunit 6B1 protein-coding COX6B1 cytochrome c oxidase subunit 6B1 O cytochrome c oxidase subunit 6B1|COX VIb-1|cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) 20210808 - 9606 1342 COX6B1P2 - COX6BP-2|COX6BP2 HGNC:HGNC:2282 17 17q21.32 cytochrome c oxidase subunit 6B1 pseudogene 2 pseudo COX6B1P2 cytochrome c oxidase subunit 6B1 pseudogene 2 O cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 2|cytochrome c oxidase subunit VIb pseudogene 2 20210611 - 9606 1343 COX6B1P3 - COX6BP-3|COX6BP3 HGNC:HGNC:2283 22 22q13.1 cytochrome c oxidase subunit 6B1 pseudogene 3 pseudo COX6B1P3 cytochrome c oxidase subunit 6B1 pseudogene 3 O cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 3|cytochrome c oxidase subunit VIb pseudogene 3 20210611 - 9606 1345 COX6C - - MIM:124090|HGNC:HGNC:2285|Ensembl:ENSG00000164919 8 8q22.2 cytochrome c oxidase subunit 6C protein-coding COX6C cytochrome c oxidase subunit 6C O cytochrome c oxidase subunit 6C|cytochrome c oxidase polypeptide VIc|cytochrome c oxidase subunit VIc preprotein|epididymis secretory sperm binding protein 20210708 - 9606 1346 COX7A1 - COX7A|COX7AH|COX7AM MIM:123995|HGNC:HGNC:2287|Ensembl:ENSG00000161281 19 19q13.12 cytochrome c oxidase subunit 7A1 protein-coding COX7A1 cytochrome c oxidase subunit 7A1 O cytochrome c oxidase subunit 7A1, mitochondrial|cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)|cytochrome c oxidase subunit VIIa-H|cytochrome c oxidase subunit VIIa-M|cytochrome c oxidase subunit VIIa-heart|cytochrome c oxidase subunit VIIa-muscle 20210611 - 9606 1347 COX7A2 - COX7AL|COX7AL1|COXVIIAL|COXVIIa-L|VIIAL MIM:123996|HGNC:HGNC:2288|Ensembl:ENSG00000112695 6 6q14.1 cytochrome c oxidase subunit 7A2 protein-coding COX7A2 cytochrome c oxidase subunit 7A2 O cytochrome c oxidase subunit 7A2, mitochondrial|cytochrome c oxidase polypeptide 7A2, mitochondrial|cytochrome c oxidase polypeptide VIIa-liver/heart|cytochrome c oxidase subunit VIIa polypeptide 2 (liver)|cytochrome c oxidase subunit VIIa-L|cytochrome c oxidase subunit VIIa-liver/heart|cytochrome c oxidase subunit VIIaL|hepatic cytochrome-c oxidase chain VIIa 20210704 - 9606 1348 COX7A2P2 - COX7A3|COX7AL|COX7AL2|COX7AP2 MIM:123997|HGNC:HGNC:2290 4 4q22.3 cytochrome c oxidase subunit 7A2 pseudogene 2 pseudo COX7A2P2 cytochrome c oxidase subunit 7A2 pseudogene 2 O H_RG162B04.1|WUGSC:H_RG162B04.1|cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 2|cytochrome c oxidase subunit VIIa polypeptide 3 (liver)|cytochrome c oxidase subunit VIIa pseudogene 2 20210716 - 9606 1349 COX7B - APLCC|LSDMCA2 MIM:300885|HGNC:HGNC:2291|Ensembl:ENSG00000131174 X Xq21.1 cytochrome c oxidase subunit 7B protein-coding COX7B cytochrome c oxidase subunit 7B O cytochrome c oxidase subunit 7B, mitochondrial|cytochrome c oxidase polypeptide VIIb|cytochrome c oxidase subunit VIIb|cytochrome-c oxidase chain VIIb 20210708 - 9606 1350 COX7C - - MIM:603774|HGNC:HGNC:2292|Ensembl:ENSG00000127184 5 5q14.3 cytochrome c oxidase subunit 7C protein-coding COX7C cytochrome c oxidase subunit 7C O cytochrome c oxidase subunit 7C, mitochondrial|cytochrome c oxidase polypeptide VIIc|cytochrome c oxidase subunit VIIc|cytochrome-c oxidase chain VIIc 20210816 - 9606 1351 COX8A - COX|COX8|COX8-2|COX8L|MC4DN15|VIII|VIII-L MIM:123870|HGNC:HGNC:2294|Ensembl:ENSG00000176340 11 11q13.1 cytochrome c oxidase subunit 8A protein-coding COX8A cytochrome c oxidase subunit 8A O cytochrome c oxidase subunit 8A, mitochondrial|cytochrome c oxidase polypeptide VIII-liver/heart|cytochrome c oxidase subunit 8-2|cytochrome c oxidase subunit 8A (ubiquitous)|cytochrome c oxidase subunit VIII|cytochrome c oxidase subunit VIIIA (ubiquitous) 20210708 - 9606 1352 COX10 - MC4DN3 MIM:602125|HGNC:HGNC:2260|Ensembl:ENSG00000006695 17 17p12 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 protein-coding COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 O protoheme IX farnesyltransferase, mitochondrial|COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase|COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor|cytochrome c oxidase assembly homolog 10|cytochrome c oxidase assembly protein|cytochrome c oxidase subunit X|heme A: farnesyltransferase|heme O synthase 20210708 - 9606 1353 COX11 - COX11P MIM:603648|HGNC:HGNC:2261|Ensembl:ENSG00000166260 17 17q22 cytochrome c oxidase copper chaperone COX11 protein-coding COX11 cytochrome c oxidase copper chaperone COX11 O cytochrome c oxidase assembly protein COX11, mitochondrial|COX11 homolog, cytochrome c oxidase assembly protein|COX11, cytochrome c oxidase copper chaperone|cytochrome c oxidase subunit 11 20210704 - 9606 1355 COX15 - CEMCOX2|MC4DN6 MIM:603646|HGNC:HGNC:2263|Ensembl:ENSG00000014919 10 10q24.2 cytochrome c oxidase assembly homolog COX15 protein-coding COX15 cytochrome c oxidase assembly homolog COX15 O cytochrome c oxidase assembly protein COX15 homolog|COX15 homolog, cytochrome c oxidase assembly protein|COX15, cytochrome c oxidase assembly homolog|cytochrome c oxidase assembly homolog 15|cytochrome c oxidase subunit 15 20210708 - 9606 1356 CP - CP-2 MIM:117700|HGNC:HGNC:2295|Ensembl:ENSG00000047457 3 3q24-q25.1 ceruloplasmin protein-coding CP ceruloplasmin O ceruloplasmin|ceruloplasmin (ferroxidase) 20210926 - 9606 1357 CPA1 - CPA MIM:114850|HGNC:HGNC:2296|Ensembl:ENSG00000091704 7 7q32.2 carboxypeptidase A1 protein-coding CPA1 carboxypeptidase A1 O carboxypeptidase A1|carboxypeptidase A1 (pancreatic)|pancreatic carboxypeptidase A 20210814 - 9606 1358 CPA2 - - MIM:600688|HGNC:HGNC:2297|Ensembl:ENSG00000158516 7 7q32.2 carboxypeptidase A2 protein-coding CPA2 carboxypeptidase A2 O carboxypeptidase A2|carboxypeptidase A2 (pancreatic) 20210611 - 9606 1359 CPA3 - MC-CPA MIM:114851|HGNC:HGNC:2298|Ensembl:ENSG00000163751 3 3q24 carboxypeptidase A3 protein-coding CPA3 carboxypeptidase A3 O mast cell carboxypeptidase A|carboxypeptidase A3 (mast cell)|tissue carboxypeptidase A 20210919 - 9606 1360 CPB1 - CPB|PASP|PCPB MIM:114852|HGNC:HGNC:2299|Ensembl:ENSG00000153002 3 3q24 carboxypeptidase B1 protein-coding CPB1 carboxypeptidase B1 O carboxypeptidase B|carboxypeptidase B1 (tissue)|pancreas-specific protein|pancreatic carboxypeptidase B|procarboxypeptidase B|protaminase|tissue carboxypeptidase B 20210708 - 9606 1361 CPB2 - CPU|PCPB|TAFI MIM:603101|HGNC:HGNC:2300|Ensembl:ENSG00000080618 13 13q14.13 carboxypeptidase B2 protein-coding CPB2 carboxypeptidase B2 O carboxypeptidase B2|carboxypeptidase B-like protein|carboxypeptidase B2 (plasma)|carboxypeptidase B2 (plasma, carboxypeptidase U)|carboxypeptidase R|thrombin-activable fibrinolysis inhibitor|thrombin-activatable fibrinolysis inhibitor 20210822 - 9606 1362 CPD - GP180 MIM:603102|HGNC:HGNC:2301|Ensembl:ENSG00000108582 17 17q11.2 carboxypeptidase D protein-coding CPD carboxypeptidase D O carboxypeptidase D|metallocarboxypeptidase D 20210704 - 9606 1363 CPE - BDVS|CPH|IDDHH MIM:114855|HGNC:HGNC:2303|Ensembl:ENSG00000109472 4 4q32.3 carboxypeptidase E protein-coding CPE carboxypeptidase E O carboxypeptidase E|carbocypeptidase E|carboxypeptidase H|cobalt-stimulated chromaffin granule carboxypeptidase|enkephalin convertase|epididymis secretory sperm binding protein|insulin granule-associated carboxypeptidase|prohormone-processing carboxypeptidase 20211106 - 9606 1364 CLDN4 - CPE-R|CPER|CPETR|CPETR1|WBSCR8|hCPE-R MIM:602909|HGNC:HGNC:2046|Ensembl:ENSG00000189143 7 7q11.23 claudin 4 protein-coding CLDN4 claudin 4 O claudin-4|CPE-receptor|Clostridium perfringens enterotoxin receptor 1|Williams-Beuren syndrome chromosomal region 8 protein 20211003 - 9606 1365 CLDN3 - C7orf1|CPE-R2|CPETR2|HRVP1|RVP1 MIM:602910|HGNC:HGNC:2045|Ensembl:ENSG00000165215 7 7q11.23 claudin 3 protein-coding CLDN3 claudin 3 O claudin-3|CPE-R 2|CPE-receptor 2|Clostridium perfringens enterotoxin receptor 2|ventral prostate.1 protein homolog|ventral prostate.1-like protein 20210822 - 9606 1366 CLDN7 - CEPTRL2|CLDN-7|CPETRL2|Hs.84359|claudin-1 MIM:609131|HGNC:HGNC:2049|Ensembl:ENSG00000181885 17 17p13.1 claudin 7 protein-coding CLDN7 claudin 7 O claudin-7|clostridium perfringens enterotoxin receptor-like 2|epididymis secretory sperm binding protein 20211009 - 9606 1368 CPM - - MIM:114860|HGNC:HGNC:2311|Ensembl:ENSG00000135678 12 12q15 carboxypeptidase M protein-coding CPM carboxypeptidase M O carboxypeptidase M|renal carboxypeptidase|urinary carboxypeptidase B 20210611 - 9606 1369 CPN1 - CPN|SCPN MIM:603103|HGNC:HGNC:2312|Ensembl:ENSG00000120054 10 10q24.2 carboxypeptidase N subunit 1 protein-coding CPN1 carboxypeptidase N subunit 1 O carboxypeptidase N catalytic chain|anaphylatoxin inactivator|arginine carboxypeptidase|carboxypeptidase K|carboxypeptidase N catalytic subunit|carboxypeptidase N polypeptide 1 50 kD|carboxypeptidase N small subunit|carboxypeptidase N, polypeptide 1|kininase I|kininase-1|lysine carboxypeptidase|plasma carboxypeptidase B|serum carboxypeptidase N 20210708 - 9606 1370 CPN2 - ACBP MIM:603104|HGNC:HGNC:2313|Ensembl:ENSG00000178772 3 3q29 carboxypeptidase N subunit 2 protein-coding CPN2 carboxypeptidase N subunit 2 O carboxypeptidase N subunit 2|carboxypeptidase N 83 kDa chain|carboxypeptidase N large subunit|carboxypeptidase N regulatory subunit|carboxypeptidase N, polypeptide 2, 83kD 20210708 - 9606 1371 CPOX - COX|CPO|CPX|HARPO|HCP MIM:612732|HGNC:HGNC:2321|Ensembl:ENSG00000080819 3 3q11.2 coproporphyrinogen oxidase protein-coding CPOX coproporphyrinogen oxidase O oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial|coprogen oxidase|coproporphyrinogenase|homozygous coproporphyria 20210808 - 9606 1373 CPS1 - CPSASE1|GATD6|PHN MIM:608307|HGNC:HGNC:2323|Ensembl:ENSG00000021826 2 2q34 carbamoyl-phosphate synthase 1 protein-coding CPS1 carbamoyl-phosphate synthase 1 O carbamoyl-phosphate synthase [ammonia], mitochondrial|carbamoyl-phosphate synthase (ammonia)|carbamoyl-phosphate synthase 1, mitochondrial|carbamoylphosphate synthetase I 20210906 - 9606 1374 CPT1A - CPT1|CPT1-L|L-CPT1 MIM:600528|HGNC:HGNC:2328|Ensembl:ENSG00000110090 11 11q13.3 carnitine palmitoyltransferase 1A protein-coding CPT1A carnitine palmitoyltransferase 1A O carnitine O-palmitoyltransferase 1, liver isoform|CPT I|CPTI-L|carnitine palmitoyltransferase 1A (liver)|carnitine palmitoyltransferase I, liver 20210822 - 9606 1375 CPT1B - CPT1-M|CPT1M|CPTI|CPTI-M|M-CPT1|MCCPT1|MCPT1 MIM:601987|HGNC:HGNC:2329|Ensembl:ENSG00000205560 22 22q13.33 carnitine palmitoyltransferase 1B protein-coding CPT1B carnitine palmitoyltransferase 1B O carnitine O-palmitoyltransferase 1, muscle isoform|carnitine O-palmitoyltransferase 1B|carnitine palmitoyltransferase 1B (muscle)|carnitine palmitoyltransferase I-like protein 20211003 - 9606 1376 CPT2 - CPT1|CPTASE|IIAE4 MIM:600650|HGNC:HGNC:2330|Ensembl:ENSG00000157184 1 1p32.3 carnitine palmitoyltransferase 2 protein-coding CPT2 carnitine palmitoyltransferase 2 O carnitine O-palmitoyltransferase 2, mitochondrial|CPT II|carnitine palmitoyltransferase II|testicular secretory protein Li 13 20210912 - 9606 1378 CR1 - C3BR|C4BR|CD35|KN MIM:120620|HGNC:HGNC:2334|Ensembl:ENSG00000203710 1 1q32.2 complement C3b/C4b receptor 1 (Knops blood group) protein-coding CR1 complement C3b/C4b receptor 1 (Knops blood group) O complement receptor type 1|C3-binding protein|C3b/C4b receptor|CD35 antigen|Knops blood group antigen|complement component (3b/4b) receptor 1 (Knops blood group)|complement receptor 1 20211003 - 9606 1379 CR1L - - MIM:605886|HGNC:HGNC:2335|Ensembl:ENSG00000197721 1 1q32.2 complement C3b/C4b receptor 1 like protein-coding CR1L complement C3b/C4b receptor 1 like O complement component receptor 1-like protein|complement C4b-binding protein CR-1-like protein|complement component (3b/4b) receptor 1-like 20210611 - 9606 1380 CR2 - C3DR|CD21|CR|CVID7|SLEB9 MIM:120650|HGNC:HGNC:2336|Ensembl:ENSG00000117322 1 1q32.2 complement C3d receptor 2 protein-coding CR2 complement C3d receptor 2 O complement receptor type 2|EBV receptor|complement component (3d/Epstein Barr virus) receptor 2|complement component 3d receptor 2 20210905 - 9606 1381 CRABP1 - CRABP|CRABP-I|CRABPI|RBP5 MIM:180230|HGNC:HGNC:2338|Ensembl:ENSG00000166426 15 15q25.1 cellular retinoic acid binding protein 1 protein-coding CRABP1 cellular retinoic acid binding protein 1 O cellular retinoic acid-binding protein 1|cellular retinoic acid-binding protein I 20211029 - 9606 1382 CRABP2 - CRABP-II|RBP6 MIM:180231|HGNC:HGNC:2339|Ensembl:ENSG00000143320 1 1q23.1 cellular retinoic acid binding protein 2 protein-coding CRABP2 cellular retinoic acid binding protein 2 O cellular retinoic acid-binding protein 2|cellular retinoic acid-binding protein II 20211029 - 9606 1384 CRAT - CAT|CAT1|NBIA8 MIM:600184|HGNC:HGNC:2342|Ensembl:ENSG00000095321 9 9q34.11 carnitine O-acetyltransferase protein-coding CRAT carnitine O-acetyltransferase O carnitine O-acetyltransferase|carnitine acetylase 20210708 - 9606 1385 CREB1 - CREB|CREB-1 MIM:123810|HGNC:HGNC:2345|Ensembl:ENSG00000118260 2 2q33.3 cAMP responsive element binding protein 1 protein-coding CREB1 cAMP responsive element binding protein 1 O cyclic AMP-responsive element-binding protein 1|active transcription factor CREB|cAMP-response element-binding protein-1|cyclic adenosine 3',5'-monophosphate response element binding protein|cyclic adenosine 3',5'-monophosphate response element-binding protein CREB|transactivator protein 20211017 - 9606 1386 ATF2 - CRE-BP1|CREB-2|CREB2|HB16|TREB7 MIM:123811|HGNC:HGNC:784|Ensembl:ENSG00000115966 2 2q31.1 activating transcription factor 2 protein-coding ATF2 activating transcription factor 2 O cyclic AMP-dependent transcription factor ATF-2|activating transcription factor 2 splice variant ATF2-var2|cAMP response element-binding protein CRE-BP1|cAMP responsive element binding protein 2, formerly|cAMP-dependent transcription factor ATF-2|cyclic AMP-responsive element-binding protein 2|histone acetyltransferase ATF2 20211031 - 9606 1387 CREBBP - CBP|KAT3A|MKHK1|RSTS|RSTS1 MIM:600140|HGNC:HGNC:2348|Ensembl:ENSG00000005339 16 16p13.3 CREB binding protein protein-coding CREBBP CREB binding protein O CREB-binding protein|histone lysine acetyltransferase CREBBP|protein-lysine acetyltransferase CREBBP 20211026 - 9606 1388 ATF6B - CREB-RP|CREBL1|G13 MIM:600984|HGNC:HGNC:2349|Ensembl:ENSG00000213676 6 6p21.32 activating transcription factor 6 beta protein-coding ATF6B activating transcription factor 6 beta O cyclic AMP-dependent transcription factor ATF-6 beta|Creb-related protein|cAMP response element-binding protein-related protein|cAMP-dependent transcription factor ATF-6 beta|cAMP-responsive element-binding protein-like 1|protein G13 20210906 - 9606 1389 CREBL2 - - MIM:603476|HGNC:HGNC:2350|Ensembl:ENSG00000111269 12 12p13.1 cAMP responsive element binding protein like 2 protein-coding CREBL2 cAMP responsive element binding protein like 2 O cAMP-responsive element-binding protein-like 2|MHBs-binding protein 1 20210808 - 9606 1390 CREM - CREM-2|ICER|hCREM-2 MIM:123812|HGNC:HGNC:2352|Ensembl:ENSG00000095794 10 10p11.21 cAMP responsive element modulator protein-coding CREM cAMP responsive element modulator O cAMP-responsive element modulator|CREM 2alpha-b protein|CREM 2beta-a protein|cAMP response element modulator|inducible cAMP early repressor ICER 20211026 - 9606 1392 CRH - CRF|CRH1 MIM:122560|HGNC:HGNC:2355|Ensembl:ENSG00000147571 8 8q13.1 corticotropin releasing hormone protein-coding CRH corticotropin releasing hormone O corticoliberin|corticotropin-releasing factor 20211031 - 9606 1393 CRHBP - CRF-BP|CRFBP MIM:122559|HGNC:HGNC:2356|Ensembl:ENSG00000145708 5 5q13.3 corticotropin releasing hormone binding protein protein-coding CRHBP corticotropin releasing hormone binding protein O corticotropin-releasing factor-binding protein|CRF-binding protein|CRH-BP 20210822 - 9606 1394 CRHR1 - CRF-R|CRF-R-1|CRF-R1|CRF1|CRFR-1|CRFR1|CRH-R-1|CRH-R1|CRHR|CRHR1L MIM:122561|HGNC:HGNC:2357|Ensembl:ENSG00000120088 17 17q21.31 corticotropin releasing hormone receptor 1 protein-coding CRHR1 corticotropin releasing hormone receptor 1 O corticotropin-releasing factor receptor 1|corticotropin-releasing factor type 1 receptor|seven transmembrane helix receptor 20210708 - 9606 1395 CRHR2 - CRF-RB|CRF2|CRFR2|HM-CRF MIM:602034|HGNC:HGNC:2358|Ensembl:ENSG00000106113 7 7p14.3 corticotropin releasing hormone receptor 2 protein-coding CRHR2 corticotropin releasing hormone receptor 2 O corticotropin-releasing factor receptor 2|CRH receptor 2 variant B|CRH-R2 20210708 - 9606 1396 CRIP1 - CRHP|CRIP|CRP-1|CRP1 MIM:123875|HGNC:HGNC:2360|Ensembl:ENSG00000213145 14 14q32.33 cysteine rich protein 1 protein-coding CRIP1 cysteine rich protein 1 O cysteine-rich protein 1|cysteine-rich heart protein|cysteine-rich intestinal protein|cysteine-rich protein 1 (intestinal) 20210611 - 9606 1397 CRIP2 - CRIP|CRP2|ESP1 MIM:601183|HGNC:HGNC:2361|Ensembl:ENSG00000182809 14 14q32.33 cysteine rich protein 2 protein-coding CRIP2 cysteine rich protein 2 O cysteine-rich protein 2|Cysteine-rich intestinal protein|LIM domain protein ESP1/CRP2 20210905 - 9606 1398 CRK - CRKII|p38 MIM:164762|HGNC:HGNC:2362|Ensembl:ENSG00000167193 17 17p13.3 CRK proto-oncogene, adaptor protein protein-coding CRK CRK proto-oncogene, adaptor protein O adapter molecule crk|proto-oncogene c-Crk|v-crk avian sarcoma virus CT10 oncogene homolog|v-crk sarcoma virus CT10 oncogene-like protein 20210912 - 9606 1399 CRKL - - MIM:602007|HGNC:HGNC:2363|Ensembl:ENSG00000099942 22 22q11.21 CRK like proto-oncogene, adaptor protein protein-coding CRKL CRK like proto-oncogene, adaptor protein O crk-like protein|v-crk avian sarcoma virus CT10 oncogene homolog-like 20211017 - 9606 1400 CRMP1 - CRMP-1|DPYSL1|DRP-1|DRP1|ULIP-3 MIM:602462|HGNC:HGNC:2365|Ensembl:ENSG00000072832 4 4p16.2 collapsin response mediator protein 1 protein-coding CRMP1 collapsin response mediator protein 1 O dihydropyrimidinase-related protein 1|dihydropyrimidinase-like 1|inactive dihydropyrimidinase|unc-33-like phosphoprotein 3 20210704 - 9606 1401 CRP - PTX1 MIM:123260|HGNC:HGNC:2367|Ensembl:ENSG00000132693 1 1q23.2 C-reactive protein protein-coding CRP C-reactive protein O C-reactive protein|C-reactive protein, pentraxin-related|pentraxin 1 20211031 - 9606 1404 HAPLN1 - CRT1|CRTL1 MIM:115435|HGNC:HGNC:2380|Ensembl:ENSG00000145681 5 5q14.3 hyaluronan and proteoglycan link protein 1 protein-coding HAPLN1 hyaluronan and proteoglycan link protein 1 O hyaluronan and proteoglycan link protein 1|Cartilage link protein|cartilage-link protein|cartilage-linking protein 1|proteoglycan link protein 20210708 - 9606 1406 CRX - CORD2|CRD|LCA7|OTX3 MIM:602225|HGNC:HGNC:2383|Ensembl:ENSG00000105392 19 19q13.33 cone-rod homeobox protein-coding CRX cone-rod homeobox O cone-rod homeobox protein|orthodenticle homeobox 3 20211016 - 9606 1407 CRY1 - DSPD|PHLL1 MIM:601933|HGNC:HGNC:2384|Ensembl:ENSG00000008405 12 12q23.3 cryptochrome circadian regulator 1 protein-coding CRY1 cryptochrome circadian regulator 1 O cryptochrome-1|cryptochrome 1 (photolyase-like)|cryptochrome circadian clock 1 20211026 - 9606 1408 CRY2 - HCRY2|PHLL2 MIM:603732|HGNC:HGNC:2385|Ensembl:ENSG00000121671 11 11p11.2 cryptochrome circadian regulator 2 protein-coding CRY2 cryptochrome circadian regulator 2 O cryptochrome-2|cryptochrome 2 (photolyase-like)|cryptochrome circadian clock 2|growth-inhibiting protein 37 20211003 - 9606 1409 CRYAA - CRYA1|CTRCT9|HSPB4 MIM:123580|HGNC:HGNC:2388|Ensembl:ENSG00000160202 21 21q22.3 crystallin alpha A protein-coding CRYAA crystallin alpha A O alpha-crystallin A chain|crystallin, alpha-1|heat shock protein beta-4|human alphaA-crystallin (CRYA1) 20211030 - 9606 1410 CRYAB - CMD1II|CRYA2|CTPP2|CTRCT16|HEL-S-101|HSPB5|MFM2 MIM:123590|HGNC:HGNC:2389|Ensembl:ENSG00000109846 11 11q23.1 crystallin alpha B protein-coding CRYAB crystallin alpha B O alpha-crystallin B chain|epididymis secretory protein Li 101|heat shock protein beta-5|heat-shock 20 kD like-protein|renal carcinoma antigen NY-REN-27|rosenthal fiber component 20210906 - 9606 1411 CRYBA1 - CRYB1|CTRCT10 MIM:123610|HGNC:HGNC:2394|Ensembl:ENSG00000108255 17 17q11.2 crystallin beta A1 protein-coding CRYBA1 crystallin beta A1 O beta-crystallin A3|beta crystallin A3 chain transcript CN|beta crystallin A3 chain transcript LAM|beta crystallin A3 chain transcript PS|beta crystallin A3 chain transcript TC|crystallin beta A3/A1|crystallin, beta A3|eye lens structural protein|truncated beta crystallin A3/A1 chain|truncated beta-crystallin A3 20210611 - 9606 1412 CRYBA2 - CTRCT42 MIM:600836|HGNC:HGNC:2395|Ensembl:ENSG00000163499 2 2q35 crystallin beta A2 protein-coding CRYBA2 crystallin beta A2 O beta-crystallin A2|eye lens structural protein 20210611 - 9606 1413 CRYBA4 - CTRCT23|CYRBA4|MCOPCT4 MIM:123631|HGNC:HGNC:2396|Ensembl:ENSG00000196431 22 22q12.1 crystallin beta A4 protein-coding CRYBA4 crystallin beta A4 O beta-crystallin A4|beta crystallin A4 chain transcript PS|beta crystallin alpha 4 chain|beta-A4 crystallin|crystallin, beta polypeptide A4|eye lens structural protein 20210611 - 9606 1414 CRYBB1 - CATCN3|CTRCT17 MIM:600929|HGNC:HGNC:2397|Ensembl:ENSG00000100122 22 22q12.1 crystallin beta B1 protein-coding CRYBB1 crystallin beta B1 O beta-crystallin B1|beta-B1 crystallin|eye lens structural protein 20210926 - 9606 1415 CRYBB2 - CCA2|CRYB2|CRYB2A|CTRCT3|D22S665 MIM:123620|HGNC:HGNC:2398|Ensembl:ENSG00000244752 22 22q11.23 crystallin beta B2 protein-coding CRYBB2 crystallin beta B2 O beta-crystallin B2|CTA-221G9.7|beta-B2 crystallin|beta-crystallin Bp|eye lens structural protein 20210802 - 9606 1416 CRYBB2P1 - CRYB2B HGNC:HGNC:2399|Ensembl:ENSG00000100058 22 22q11.23 crystallin beta B2 pseudogene 1 pseudo CRYBB2P1 crystallin beta B2 pseudogene 1 O - 20210611 - 9606 1417 CRYBB3 - CATCN2|CRYB3|CTRCT22 MIM:123630|HGNC:HGNC:2400|Ensembl:ENSG00000100053 22 22q11.23 crystallin beta B3 protein-coding CRYBB3 crystallin beta B3 O beta-crystallin B3|eye lens structural protein 20210611 - 9606 1418 CRYGA - CRY-g-A|CRYG1|CRYG5 MIM:123660|HGNC:HGNC:2408|Ensembl:ENSG00000168582 2 2q33.3 crystallin gamma A protein-coding CRYGA crystallin gamma A O gamma-crystallin A|crystallin, gamma 1|gamma-crystallin 5 20210611 - 9606 1419 CRYGB - CRYG2|CTRCT39 MIM:123670|HGNC:HGNC:2409|Ensembl:ENSG00000182187 2 2q33.3 crystallin gamma B protein-coding CRYGB crystallin gamma B O gamma-crystallin B|crystallin, gamma 1-2 20210611 - 9606 1420 CRYGC - CCL|CRYG3|CTRCT2 MIM:123680|HGNC:HGNC:2410|Ensembl:ENSG00000163254 2 2q33.3 crystallin gamma C protein-coding CRYGC crystallin gamma C O gamma-crystallin C|gamma-crystallin 2-1|gamma-crystallin 3 20210628 - 9606 1421 CRYGD - CACA|CCA3|CCP|CRYG4|CTRCT4|PCC|cry-g-D MIM:123690|HGNC:HGNC:2411|Ensembl:ENSG00000118231 2 2q33.3 crystallin gamma D protein-coding CRYGD crystallin gamma D O gamma-crystallin D|gamma crystallin 4|gamma-D-crystallin 20210628 - 9606 1423 CRYGFP - CRYG6|CRYGFP1|p1 HGNC:HGNC:2413 2 2q34 crystallin gamma F, pseudogene pseudo CRYGFP crystallin gamma F, pseudogene O crystallin, gamma D pseudogene|crystallin, gamma F pseudogene 1 20210611 - 9606 1424 CRYGGP - CRYGGP1 HGNC:HGNC:2414|Ensembl:ENSG00000223710 2 2p16.3 crystallin gamma G, pseudogene pseudo CRYGGP crystallin gamma G, pseudogene O crystallin, gamma G pseudogene 1 20210611 - 9606 1427 CRYGS - CRYG8|CTRCT20 MIM:123730|HGNC:HGNC:2417|Ensembl:ENSG00000213139 3 3q27.3 crystallin gamma S protein-coding CRYGS crystallin gamma S O gamma-crystallin S|beta-crystallin S|crystallin, gamma 8 20210807 - 9606 1428 CRYM - DFNA40|THBP MIM:123740|HGNC:HGNC:2418|Ensembl:ENSG00000103316 16 16p12.2 crystallin mu protein-coding CRYM crystallin mu O ketimine reductase mu-crystallin|NADP-regulated thyroid-hormone binding protein|mu-crystallin homolog|thiomorpholine-carboxylate dehydrogenase 20210708 - 9606 1429 CRYZ - - MIM:123691|HGNC:HGNC:2419|Ensembl:ENSG00000116791 1 1p31.1 crystallin zeta protein-coding CRYZ crystallin zeta O quinone oxidoreductase|NADPH:quinone reductase|crystallin, zeta (quinone reductase)|epididymis secretory sperm binding protein 20210611 - 9606 1430 CRYZP1 - - HGNC:HGNC:2421 7 7q22.1 crystallin zeta pseudogene 1 pseudo CRYZP1 crystallin zeta pseudogene 1 O crystallin, zeta (quinone reductase) pseudogene 1 20210611 - 9606 1431 CS - - MIM:118950|HGNC:HGNC:2422|Ensembl:ENSG00000062485 12 12q13.3 citrate synthase protein-coding CS citrate synthase O citrate synthase, mitochondrial|citrate (Si)-synthase 20210912 - 9606 1432 MAPK14 - CSBP|CSBP1|CSBP2|CSPB1|EXIP|Mxi2|PRKM14|PRKM15|RK|SAPK2A|p38|p38ALPHA MIM:600289|HGNC:HGNC:6876|Ensembl:ENSG00000112062 6 6p21.31 mitogen-activated protein kinase 14 protein-coding MAPK14 mitogen-activated protein kinase 14 O mitogen-activated protein kinase 14|CSAID-binding protein|MAP kinase 14|MAP kinase Mxi2|MAP kinase p38 alpha|MAX-interacting protein 2|cytokine suppressive anti-inflammatory drug binding protein|mitogen-activated protein kinase p38 alpha|p38 MAP kinase|p38 mitogen activated protein kinase|p38alpha Exip|stress-activated protein kinase 2A 20211028 - 9606 1434 CSE1L - CAS|CSE1|XPO2 MIM:601342|HGNC:HGNC:2431|Ensembl:ENSG00000124207 20 20q13.13 chromosome segregation 1 like protein-coding CSE1L chromosome segregation 1 like O exportin-2|CSE1 chromosome segregation 1-like|cellular apoptosis susceptibility protein|chromosome segregation 1-like protein|epididymis secretory sperm binding protein|exp2|importin-alpha re-exporter 20210906 - 9606 1435 CSF1 - CSF-1|MCSF MIM:120420|HGNC:HGNC:2432|Ensembl:ENSG00000184371 1 1p13.3 colony stimulating factor 1 protein-coding CSF1 colony stimulating factor 1 O macrophage colony-stimulating factor 1|colony stimulating factor 1 (macrophage)|lanimostim|macrophage colony stimulating factor 1 20211026 - 9606 1436 CSF1R - BANDDOS|C-FMS|CD115|CSF-1R|CSFR|FIM2|FMS|HDLS|M-CSF-R MIM:164770|HGNC:HGNC:2433|Ensembl:ENSG00000182578 5 5q32 colony stimulating factor 1 receptor protein-coding CSF1R colony stimulating factor 1 receptor O macrophage colony-stimulating factor 1 receptor|CD115 antigen|CSF-1 receptor|FMS proto-oncogene|McDonough feline sarcoma viral (v-fms) oncogene homolog|macrophage colony stimulating factor I receptor|proto-oncogene c-Fms 20211031 - 9606 1437 CSF2 - CSF|GMCSF MIM:138960|HGNC:HGNC:2434|Ensembl:ENSG00000164400 5 5q31.1 colony stimulating factor 2 protein-coding CSF2 colony stimulating factor 2 O granulocyte-macrophage colony-stimulating factor|colony stimulating factor 2 (granulocyte-macrophage)|granulocyte macrophage-colony stimulating factor|molgramostim|molgramostin|sargramostim 20211026 - 9606 1438 CSF2RA - CD116|CDw116|CSF2R|CSF2RAX|CSF2RAY|CSF2RX|CSF2RY|GM-CSF-R-alpha|GMCSFR|GMCSFR-alpha|GMR|GMR-alpha|SMDP4|alphaGMR MIM:306250|MIM:425000|HGNC:HGNC:2435|Ensembl:ENSG00000198223 X|Y X;Y colony stimulating factor 2 receptor subunit alpha protein-coding CSF2RA colony stimulating factor 2 receptor subunit alpha O granulocyte-macrophage colony-stimulating factor receptor subunit alpha|CD116 antigen|GM-CSF receptor alpha subunit|alpha-GM-CSF receptor|colony stimulating factor 2 receptor alpha subunit|colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)|granulocyte-macrophage colony-stimulating factor receptor alpha chain 20210708 - 9606 1439 CSF2RB - CD131|CDw131|IL3RB|IL5RB|SMDP5|betaGMR MIM:138981|HGNC:HGNC:2436|Ensembl:ENSG00000100368 22 22q12.3 colony stimulating factor 2 receptor subunit beta protein-coding CSF2RB colony stimulating factor 2 receptor subunit beta O cytokine receptor common subunit beta|GM-CSF/IL-3/IL-5 receptor common beta subunit|GM-CSF/IL-3/IL-5 receptor common beta-chain|beta common cytokine receptor|beta-GM-CSF receptor|colony stimulating factor 2 receptor beta common subunit|colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)|colony-stimulating factor-2 receptor, beta, low-affinity|interleukin 3 receptor/granulocyte-macrophage colony stimulating factor 3 receptor, beta (high affinity) 20210708 - 9606 1440 CSF3 - C17orf33|CSF3OS|GCSF MIM:138970|HGNC:HGNC:2438|Ensembl:ENSG00000108342 17 17q21.1 colony stimulating factor 3 protein-coding CSF3 colony stimulating factor 3 O granulocyte colony-stimulating factor|filgrastim|granulocyte-colony stimulating factor|lenograstim|pluripoietin 20210926 - 9606 1441 CSF3R - CD114|GCSFR|SCN7 MIM:138971|HGNC:HGNC:2439|Ensembl:ENSG00000119535 1 1p34.3 colony stimulating factor 3 receptor protein-coding CSF3R colony stimulating factor 3 receptor O granulocyte colony-stimulating factor receptor|CD114 antigen|G-CSF receptor|G-CSF-R|colony stimulating factor 3 receptor (granulocyte) 20210906 - 9606 1442 CSH1 - CS-1|CSA|CSMT|GHB3|PL|hCS-1|hCS-A MIM:150200|HGNC:HGNC:2440|Ensembl:ENSG00000136488 17 17q23.3 chorionic somatomammotropin hormone 1 protein-coding CSH1 chorionic somatomammotropin hormone 1 O chorionic somatomammotropin hormone 1|Chorionic somatomammotropin hormone 2|choriomammotropin|chorionic somatomammotropin A|chorionic somatomammotropin-1|growth hormone B3|placental lactogen 20211031 - 9606 1443 CSH2 - CS-2|CSB|GHB1|PL|hCS-B MIM:118820|HGNC:HGNC:2441|Ensembl:ENSG00000213218 17 17q23.3 chorionic somatomammotropin hormone 2 protein-coding CSH2 chorionic somatomammotropin hormone 2 O chorionic somatomammotropin hormone 2|choriomammotropin|chorionic somatomammotropin B|growth hormone B1|lactogen|placental lactogen 20210716 - 9606 1444 CSHL1 - CS-5|CSHP1|CSL|GHB4|hCS-L MIM:603515|HGNC:HGNC:2442|Ensembl:ENSG00000204414 17 17q23.3 chorionic somatomammotropin hormone like 1 protein-coding CSHL1 chorionic somatomammotropin hormone like 1 O chorionic somatomammotropin hormone-like 1|chorionic somatomammotropin CS-5|epididymis secretory sperm binding protein|growth hormone B4|growth hormone cluster 20210611 - 9606 1445 CSK - - MIM:124095|HGNC:HGNC:2444|Ensembl:ENSG00000103653 15 15q24.1 C-terminal Src kinase protein-coding CSK C-terminal Src kinase O tyrosine-protein kinase CSK|C-Src kinase|CSK, non-receptor tyrosine kinase|c-src tyrosine kinase|protein-tyrosine kinase CYL 20210816 - 9606 1446 CSN1S1 - CASA|CSN1 MIM:115450|HGNC:HGNC:2445|Ensembl:ENSG00000126545 4 4q13.3 casein alpha s1 protein-coding CSN1S1 casein alpha s1 O alpha-S1-casein|casein, alpha 20210708 - 9606 1447 CSN2 - CASB|PDC213 MIM:115460|HGNC:HGNC:2447|Ensembl:ENSG00000135222 4 4q13.3 casein beta protein-coding CSN2 casein beta O beta-casein 20210611 - 9606 1448 CSN3 - CNS10|CSN10|CSNK|KCA MIM:601695|HGNC:HGNC:2446|Ensembl:ENSG00000171209 4 4q13.3 casein kappa protein-coding CSN3 casein kappa O kappa-casein 20211009 - 9606 1452 CSNK1A1 - CK1|CK1a|CKIa|HEL-S-77p|HLCDGP1|PRO2975 MIM:600505|HGNC:HGNC:2451|Ensembl:ENSG00000113712 5 5q32 casein kinase 1 alpha 1 protein-coding CSNK1A1 casein kinase 1 alpha 1 O casein kinase I isoform alpha|CKI-alpha|clock regulator kinase|down-regulated in lung cancer|epididymis secretory sperm binding protein Li 77p 20211028 - 9606 1453 CSNK1D - ASPS|CKI-delta|CKId|CKIdelta|FASPS2|HCKID MIM:600864|HGNC:HGNC:2452|Ensembl:ENSG00000141551 17 17q25.3 casein kinase 1 delta protein-coding CSNK1D casein kinase 1 delta O casein kinase I isoform delta|casein kinase I|tau-protein kinase CSNK1D 20211028 - 9606 1454 CSNK1E - CKIe|CKIepsilon|HCKIE MIM:600863|HGNC:HGNC:2453|Ensembl:ENSG00000213923 22 22q13.1 casein kinase 1 epsilon protein-coding CSNK1E casein kinase 1 epsilon O casein kinase I isoform epsilon 20211028 - 9606 1455 CSNK1G2 - CK1g2 MIM:602214|HGNC:HGNC:2455|Ensembl:ENSG00000133275 19 19p13.3 casein kinase 1 gamma 2 protein-coding CSNK1G2 casein kinase 1 gamma 2 O casein kinase I isoform gamma-2|casein kinase I|CKI-gamma 2 20211028 - 9606 1456 CSNK1G3 - CKI-gamma 3|CSNK1G3L MIM:604253|HGNC:HGNC:2456|Ensembl:ENSG00000151292 5 5q23.2 casein kinase 1 gamma 3 protein-coding CSNK1G3 casein kinase 1 gamma 3 O casein kinase I isoform gamma-3|casein kinase I 20211028 - 9606 1457 CSNK2A1 - CK2A1|CKII|Cka1|Cka2|OCNDS MIM:115440|HGNC:HGNC:2457|Ensembl:ENSG00000101266 20 20p13 casein kinase 2 alpha 1 protein-coding CSNK2A1 casein kinase 2 alpha 1 O casein kinase II subunit alpha|CK2 catalytic subunit alpha|casein kinase 2, alpha 1 polypeptide|casein kinase II alpha 1 polypeptide pseudogene|casein kinase II alpha 1 subunit|protein kinase CK2 20211031 - 9606 1459 CSNK2A2 - CK2A2|CK2alpha'|CSNK2A1 MIM:115442|HGNC:HGNC:2459|Ensembl:ENSG00000070770 16 16q21 casein kinase 2 alpha 2 protein-coding CSNK2A2 casein kinase 2 alpha 2 O casein kinase II subunit alpha'|CK II alpha'|casein kinase 2 alpha'|casein kinase 2, alpha prime polypeptide 20211028 - 9606 1460 CSNK2B - CK2B|CK2N|CSK2B|Ckb1|Ckb2|G5A|POBINDS MIM:115441|HGNC:HGNC:2460|Ensembl:ENSG00000204435 6 6p21.33 casein kinase 2 beta protein-coding CSNK2B casein kinase 2 beta O casein kinase II subunit beta|CK II beta|CSNK2B-LY6G5B-1072|CSNK2B-LY6G5B-1103|CSNK2B-LY6G5B-532|CSNK2B-LY6G5B-560|CSNK2B-LY6G5B-562|Casein kinase II beta subunit|alternative name: G5a, phosvitin|casein kinase 2, beta polypeptide|phosvitin|protein G5a 20211017 - 9606 1462 VCAN - CSPG2|ERVR|GHAP|PG-M|WGN|WGN1 MIM:118661|HGNC:HGNC:2464|Ensembl:ENSG00000038427 5 5q14.2-q14.3 versican protein-coding VCAN versican O versican core protein|chondroitin sulfate proteoglycan core protein 2|glial hyaluronate-binding protein|large fibroblast proteoglycan|versican proteoglycan 20211026 - 9606 1463 NCAN - CSPG3 MIM:600826|HGNC:HGNC:2465|Ensembl:ENSG00000130287 19 19p13.11 neurocan protein-coding NCAN neurocan O neurocan core protein|chondroitin sulfate proteoglycan 3 (neurocan)|neurocan proteoglycan 20210822 - 9606 1464 CSPG4 - CSPG4A|HMW-MAA|MCSP|MCSPG|MEL-CSPG|MSK16|NG2 MIM:601172|HGNC:HGNC:2466|Ensembl:ENSG00000173546 15 15q24.2 chondroitin sulfate proteoglycan 4 protein-coding CSPG4 chondroitin sulfate proteoglycan 4 O chondroitin sulfate proteoglycan 4|chondroitin sulfate proteoglycan 4 (melanoma-associated)|chondroitin sulfate proteoglycan NG2|melanoma chondroitin sulfate proteoglycan|melanoma-associated chondroitin sulfate proteoglycan 20211031 - 9606 1465 CSRP1 - CRP|CRP1|CSRP|CYRP|D1S181E|HEL-141|HEL-S-286 MIM:123876|HGNC:HGNC:2469|Ensembl:ENSG00000159176 1 1q32.1 cysteine and glycine rich protein 1 protein-coding CSRP1 cysteine and glycine rich protein 1 O cysteine and glycine-rich protein 1|LIM-domain protein|cysteine-rich protein 1|epididymis luminal protein 141|epididymis secretory protein Li 286|epididymis secretory sperm binding protein 20210808 - 9606 1466 CSRP2 - CRP2|LMO5|SmLIM MIM:601871|HGNC:HGNC:2470|Ensembl:ENSG00000175183 12 12q21.2 cysteine and glycine rich protein 2 protein-coding CSRP2 cysteine and glycine rich protein 2 O cysteine and glycine-rich protein 2|LIM domain only 5, smooth muscle|LIM domain only protein 5|LMO-5|cysteine-rich protein 2|epididymis secretory sperm binding protein|smooth muscle cell LIM protein 20210808 - 9606 1467 CSRP2P1 - CSRP2P HGNC:HGNC:2471 3 3q13.33 cysteine and glycine rich protein 2 pseudogene 1 pseudo CSRP2P1 cysteine and glycine rich protein 2 pseudogene 1 O cysteine and glycine-rich protein 2 pseudogene 20210611 - 9606 1468 SLC25A10 - DIC|MTDPS19 MIM:606794|HGNC:HGNC:10980|Ensembl:ENSG00000183048 17 17q25.3 solute carrier family 25 member 10 protein-coding SLC25A10 solute carrier family 25 member 10 O mitochondrial dicarboxylate carrier|dicarboxylate ion carrier|solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 20210704 - 9606 1469 CST1 - - MIM:123855|HGNC:HGNC:2473|Ensembl:ENSG00000170373 20 20p11.21 cystatin SN protein-coding CST1 cystatin SN O cystatin-SN|cystain-SA-I|cystatin 1|cystatin SA-I|cysteine proteinase inhibitor, type 2 family|salivary cystatin-SA-1 20211026 - 9606 1470 CST2 - - MIM:123856|HGNC:HGNC:2474|Ensembl:ENSG00000170369 20 20p11.21 cystatin SA protein-coding CST2 cystatin SA O cystatin-SA|cystatin 2|cystatin S5|cysteine-proteinase inhibitor|salivary cysteine (thiol) protease inhibitor 20210611 - 9606 1471 CST3 - ARMD11|HEL-S-2 MIM:604312|HGNC:HGNC:2475|Ensembl:ENSG00000101439 20 20p11.21 cystatin C protein-coding CST3 cystatin C O cystatin-C|bA218C14.4 (cystatin C)|cystatin 3|epididymis secretory protein Li 2|gamma-trace|neuroendocrine basic polypeptide|post-gamma-globulin 20211031 - 9606 1472 CST4 - - MIM:123857|HGNC:HGNC:2476|Ensembl:ENSG00000101441 20 20p11.21 cystatin S protein-coding CST4 cystatin S O cystatin-S|cystatin 4|cystatin-SA-III|salivary acidic protein 1 20210628 - 9606 1473 CST5 - - MIM:123858|HGNC:HGNC:2477|Ensembl:ENSG00000170367 20 20p11.21 cystatin D protein-coding CST5 cystatin D O cystatin-D|cystatin 5|cysteine-proteinase inhibitor 20210611 - 9606 1474 CST6 - ECTD15 MIM:601891|HGNC:HGNC:2478|Ensembl:ENSG00000175315 11 11q13.1 cystatin E/M protein-coding CST6 cystatin E/M O cystatin-M|cystatin 6|cystatin M/E|cystatin-E|cysteine proteinase inhibitor 20210704 - 9606 1475 CSTA - AREI|PSS4|STF1|STFA MIM:184600|HGNC:HGNC:2481|Ensembl:ENSG00000121552 3 3q21.1 cystatin A protein-coding CSTA cystatin A O cystatin-A|cystatin A (stefin A)|cystatin AS 20210808 - 9606 1476 CSTB - CPI-B|CST6|EPM1|EPM1A|PME|STFB|ULD MIM:601145|HGNC:HGNC:2482|Ensembl:ENSG00000160213 21 21q22.3 cystatin B protein-coding CSTB cystatin B O cystatin-B|cystatin B (stefin B)|epididymis secretory sperm binding protein|liver thiol proteinase inhibitor 20210919 - 9606 1477 CSTF1 - CstF-50|CstFp50 MIM:600369|HGNC:HGNC:2483|Ensembl:ENSG00000101138 20 20q13.2-q13.31 cleavage stimulation factor subunit 1 protein-coding CSTF1 cleavage stimulation factor subunit 1 O cleavage stimulation factor subunit 1|CF-1 50 kDa subunit|CSTF 50 kDa subunit|cleavage stimulation factor 50 kDa subunit|cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD|cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 20210905 - 9606 1478 CSTF2 - CstF-64 MIM:300907|HGNC:HGNC:2484|Ensembl:ENSG00000101811 X Xq22.1 cleavage stimulation factor subunit 2 protein-coding CSTF2 cleavage stimulation factor subunit 2 O cleavage stimulation factor subunit 2|CF-1 64 kDa subunit|CSTF 64 kDa subunit|betaCstF-64 variant 2|cleavage stimulation factor 64 kDa subunit|cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD|cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 20210808 - 9606 1479 CSTF3 - CSTF-77 MIM:600367|HGNC:HGNC:2485|Ensembl:ENSG00000176102 11 11p13 cleavage stimulation factor subunit 3 protein-coding CSTF3 cleavage stimulation factor subunit 3 O cleavage stimulation factor subunit 3|CF-1 77 kDa subunit|CSTF 77 kDa subunit|cleavage stimulation factor 77 kDa subunit|cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD|cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 20210905 - 9606 1480 CSTP1 - dJ850N15.1 HGNC:HGNC:2486 20 20p11.21 cystatin pseudogene 1 pseudo CSTP1 cystatin pseudogene 1 O cystatin S pseudogene 20210611 - 9606 1481 CSTP2 - - HGNC:HGNC:2487|Ensembl:ENSG00000277975 20 20p11.21 cystatin pseudogene 2 pseudo CSTP2 cystatin pseudogene 2 O type 2 cystatin pseudogene 20210611 - 9606 1482 NKX2-5 - CHNG5|CSX|CSX1|HLHS2|NKX2.5|NKX2E|NKX4-1|VSD3 MIM:600584|HGNC:HGNC:2488|Ensembl:ENSG00000183072 5 5q35.1 NK2 homeobox 5 protein-coding NKX2-5 NK2 homeobox 5 O homeobox protein Nkx-2.5|NK2 transcription factor related, locus 5|NKX 2-5|cardiac-specific homeobox 1|homeobox protein CSX|homeobox protein NK-2 homolog E|homeobox protein NKX 2-5|tinman homolog|tinman paralog 20211017 - 9606 1483 CTAA1 - CAP|CTPP5 MIM:115650 14 14q24-qter cataract, anterior polar 1 unknown - - - - 20191002 - 9606 1484 CTAA2 - - MIM:601202 17 17p13 cataract, anterior polar 2 unknown - - - - 20191002 - 9606 1485 CTAG1B - CT6.1|CTAG|CTAG1|ESO1|LAGE-2|LAGE2B|NY-ESO-1 MIM:300156|HGNC:HGNC:2491|Ensembl:ENSG00000184033 X Xq28 cancer/testis antigen 1B protein-coding CTAG1B cancer/testis antigen 1B O cancer/testis antigen 1|New York esophageal squamous cell carcinoma 1|autoimmunogenic cancer/testis antigen NY-ESO-1|cancer antigen 3|cancer/testis antigen 6.1|l antigen family member 2 20210628 - 9606 1486 CTBS - CTB MIM:600873|HGNC:HGNC:2496|Ensembl:ENSG00000117151 1 1p22.3 chitobiase protein-coding CTBS chitobiase O di-N-acetylchitobiase|chitobiase, di-N-acetyl- 20210704 - 9606 1487 CTBP1 - BARS|HADDTS MIM:602618|HGNC:HGNC:2494|Ensembl:ENSG00000159692 4 4p16.3 C-terminal binding protein 1 protein-coding CTBP1 C-terminal binding protein 1 O C-terminal-binding protein 1|brefeldin A-ribosylated substrate 20211028 - 9606 1488 CTBP2 - - MIM:602619|HGNC:HGNC:2495|Ensembl:ENSG00000175029 10 10q26.13 C-terminal binding protein 2 protein-coding CTBP2 C-terminal binding protein 2 O C-terminal-binding protein 2|ribeye 20211031 - 9606 1489 CTF1 - CT-1|CT1 MIM:600435|HGNC:HGNC:2499|Ensembl:ENSG00000150281 16 16p11.2 cardiotrophin 1 protein-coding CTF1 cardiotrophin 1 O cardiotrophin-1|cardiophin 1 20210708 - 9606 1490 CCN2 - CTGF|HCS24|IGFBP8|NOV2 MIM:121009|HGNC:HGNC:2500|Ensembl:ENSG00000118523 6 6q23.2 cellular communication network factor 2 protein-coding CCN2 cellular communication network factor 2 O CCN family member 2|IBP-8|IGF-binding protein 8|IGFBP-8|connective tissue growth factor|hypertrophic chondrocyte-specific protein 24|insulin-like growth factor-binding protein 8 20211026 - 9606 1491 CTH - CSE MIM:607657|HGNC:HGNC:2501|Ensembl:ENSG00000116761 1 1p31.1 cystathionine gamma-lyase protein-coding CTH cystathionine gamma-lyase O cystathionine gamma-lyase|cystathionase (cystathionine gamma-lyase)|cysteine desulfhydrase|cysteine-protein sulfhydrase|gamma-cystathionase|homoserine deaminase|homoserine dehydratase 20211016 - 9606 1493 CTLA4 - ALPS5|CD|CD152|CELIAC3|CTLA-4|GRD4|GSE|IDDM12 MIM:123890|HGNC:HGNC:2505|Ensembl:ENSG00000163599 2 2q33.2 cytotoxic T-lymphocyte associated protein 4 protein-coding CTLA4 cytotoxic T-lymphocyte associated protein 4 O cytotoxic T-lymphocyte protein 4|celiac disease 3|cytotoxic T lymphocyte associated antigen 4 short spliced form|cytotoxic T-lymphocyte-associated serine esterase-4|insulin-dependent diabetes mellitus 12|ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4 20211031 - 9606 1495 CTNNA1 - CAP102|MDPT2 MIM:116805|HGNC:HGNC:2509|Ensembl:ENSG00000044115 5 5q31.2 catenin alpha 1 protein-coding CTNNA1 catenin alpha 1 O catenin alpha-1|alpha-E-catenin|catenin (cadherin-associated protein), alpha 1, 102kDa|epididymis secretory sperm binding protein|renal carcinoma antigen NY-REN-13 20211003 - 9606 1496 CTNNA2 - CAP-R|CAPR|CDCBM9|CT114|CTNR MIM:114025|HGNC:HGNC:2510|Ensembl:ENSG00000066032 2 2p12 catenin alpha 2 protein-coding CTNNA2 catenin alpha 2 O catenin alpha-2|alpha-N-catenin|alpha-catenin-related protein|cadherin-associated protein, related|cancer/testis antigen 114|catenin (cadherin-associated protein), alpha 2 20210905 - 9606 1497 CTNS - CTNS-LSB|PQLC4|SLC66A4 MIM:606272|HGNC:HGNC:2518|Ensembl:ENSG00000040531 17 17p13.2 cystinosin, lysosomal cystine transporter protein-coding CTNS cystinosin, lysosomal cystine transporter O cystinosin|cystinosis nephropathic 20210726 - 9606 1498 CTNNA1P1 - CTNNAP1 HGNC:HGNC:2513 5 5q22.3 catenin alpha 1 pseudogene 1 pseudo CTNNA1P1 catenin alpha 1 pseudogene 1 O catenin (cadherin-associated protein), alpha 1 pseudogene 1|catenin (cadherin-associated protein), alpha pseudogene 1 20210611 - 9606 1499 CTNNB1 - CTNNB|EVR7|MRD19|NEDSDV|armadillo MIM:116806|HGNC:HGNC:2514|Ensembl:ENSG00000168036 3 3p22.1 catenin beta 1 protein-coding CTNNB1 catenin beta 1 O catenin beta-1|catenin (cadherin-associated protein), beta 1, 88kDa 20211031 - 9606 1500 CTNND1 - BCDS2|CAS|CTNND|P120CAS|P120CTN|p120|p120(CAS)|p120(CTN) MIM:601045|HGNC:HGNC:2515|Ensembl:ENSG00000198561 11 11q12.1 catenin delta 1 protein-coding CTNND1 catenin delta 1 O catenin delta-1|cadherin-associated Src substrate|catenin (cadherin-associated protein), delta 1|p120 catenin 20210912 - 9606 1501 CTNND2 - GT24|NPRAP MIM:604275|HGNC:HGNC:2516|Ensembl:ENSG00000169862 5 5p15.2 catenin delta 2 protein-coding CTNND2 catenin delta 2 O catenin delta-2|T-cell delta-catenin|catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)|neurojungin 20211030 - 9606 1503 CTPS1 - CTPS|GATD5|GATD5A|IMD24 MIM:123860|HGNC:HGNC:2519|Ensembl:ENSG00000171793 1 1p34.2 CTP synthase 1 protein-coding CTPS1 CTP synthase 1 O CTP synthase 1|CTP synthetase 1|UTP--ammonia ligase 1|cytidine 5'-triphosphate synthetase|cytidine 5-prime triphosphate synthetase 20210822 - 9606 1504 CTRB1 - CTRB MIM:118890|HGNC:HGNC:2521|Ensembl:ENSG00000168925 16 16q23.1 chymotrypsinogen B1 protein-coding CTRB1 chymotrypsinogen B1 O chymotrypsinogen B 20211009 - 9606 1506 CTRL - CTRL1 MIM:118888|HGNC:HGNC:2524|Ensembl:ENSG00000141086 16 16q22.1 chymotrypsin like protein-coding CTRL chymotrypsin like O chymotrypsin-like protease CTRL-1 20210611 - 9606 1508 CTSB - APPS|CPSB|RECEUP MIM:116810|HGNC:HGNC:2527|Ensembl:ENSG00000164733 8 8p23.1 cathepsin B protein-coding CTSB cathepsin B O cathepsin B|APP secretase|amyloid precursor protein secretase|cathepsin B1|cysteine protease|epididymis secretory sperm binding protein 20211026 - 9606 1509 CTSD - CLN10|CPSD|HEL-S-130P MIM:116840|HGNC:HGNC:2529|Ensembl:ENSG00000117984 11 11p15.5 cathepsin D protein-coding CTSD cathepsin D O cathepsin D|ceroid-lipofuscinosis, neuronal 10|epididymis secretory sperm binding protein Li 130P|lysosomal aspartyl peptidase|lysosomal aspartyl protease 20211031 - 9606 1510 CTSE - CATE MIM:116890|HGNC:HGNC:2530|Ensembl:ENSG00000196188 1 1q32.1 cathepsin E protein-coding CTSE cathepsin E O cathepsin E|erythrocyte membrane aspartic proteinase|slow-moving proteinase 20210611 - 9606 1511 CTSG - CATG|CG MIM:116830|HGNC:HGNC:2532|Ensembl:ENSG00000100448 14 14q12 cathepsin G protein-coding CTSG cathepsin G O cathepsin G 20210906 - 9606 1512 CTSH - ACC-4|ACC-5|ACC4|ACC5|CPSB MIM:116820|HGNC:HGNC:2535|Ensembl:ENSG00000103811 15 15q25.1 cathepsin H protein-coding CTSH cathepsin H O pro-cathepsin H|N-benzoylarginine-beta-naphthylamide hydrolase|aleurain|cathepsin B3|cathepsin BA 20211016 - 9606 1513 CTSK - CTS02|CTSO|CTSO1|CTSO2|PKND|PYCD MIM:601105|HGNC:HGNC:2536|Ensembl:ENSG00000143387 1 1q21.3 cathepsin K protein-coding CTSK cathepsin K O cathepsin K|cathepsin O|cathepsin O1|cathepsin O2|cathepsin X 20211026 - 9606 1514 CTSL - CATL|CTSL1|MEP MIM:116880|HGNC:HGNC:2537|Ensembl:ENSG00000135047 9 9q21.33 cathepsin L protein-coding CTSL cathepsin L O procathepsin L|cathepsin L1|major excreted protein 20211031 - 9606 1515 CTSV - CATL2|CTSL2|CTSU MIM:603308|HGNC:HGNC:2538|Ensembl:ENSG00000136943 9 9q22.33 cathepsin V protein-coding CTSV cathepsin V O cathepsin L2|cathepsin L2, preproprotein|cathepsin U 20210708 - 9606 1517 CTSLP2 - CTSL1P2|CTSL1P5|CTSL1P7|CTSLL2|CTSLL5|CTSLL7|CTSLP5|CTSLP7|bA144G6.6|bA342C24.4 HGNC:HGNC:2540 10 10q11.22 cathepsin L pseudogene 2 pseudo CTSLP2 cathepsin L pseudogene 2 O cathepsin L pseudogene 5|cathepsin L pseudogene 7|cathepsin L-like 2|cathepsin L1 pseudogene 2|cathepsin L1 pseudogene 5|cathepsin L1 pseudogene 7 20210724 - 9606 1518 CTSLP8 - CTSL1P8 HGNC:HGNC:39084 9 9q22.1 cathepsin L pseudogene 8 pseudo CTSLP8 cathepsin L pseudogene 8 O cathepsin L1 pseudogene 8 20210724 - 9606 1519 CTSO - CTSO1 MIM:600550|HGNC:HGNC:2542|Ensembl:ENSG00000256043 4 4q32.1 cathepsin O protein-coding CTSO cathepsin O O cathepsin O 20210611 - 9606 1520 CTSS - - MIM:116845|HGNC:HGNC:2545|Ensembl:ENSG00000163131 1 1q21.3 cathepsin S protein-coding CTSS cathepsin S O cathepsin S 20210912 - 9606 1521 CTSW - LYPN MIM:602364|HGNC:HGNC:2546|Ensembl:ENSG00000172543 11 11q13.1 cathepsin W protein-coding CTSW cathepsin W O cathepsin W|lymphopain 20210708 - 9606 1522 CTSZ - CTSX MIM:603169|HGNC:HGNC:2547|Ensembl:ENSG00000101160 20 20q13.32 cathepsin Z protein-coding CTSZ cathepsin Z O cathepsin Z|carboxypeptidase LB|cathepsin B2|cathepsin IV|cathepsin P|cathepsin X|cathepsin Y|cathepsin Z1|cysteine-type carboxypeptidase|lysosomal carboxypeptidase B|preprocathepsin P 20210816 - 9606 1523 CUX1 - CASP|CDP|CDP/Cut|CDP1|COY1|CUTL1|CUX|Clox|Cux/CDP|GDDI|GOLIM6|Nbla10317|p100|p110|p200|p75 MIM:116896|HGNC:HGNC:2557|Ensembl:ENSG00000257923 7 7q22.1 cut like homeobox 1 protein-coding CUX1 cut like homeobox 1 O protein CASP|Homeobox protein cut-like 1|CCAAT displacement protein|CDP/Cux p200|CUX1 gene Alternatively Spliced Product|cut homolog|golgi integral membrane protein 6|homeobox protein cux-1|mutant CUX1|putative protein product of Nbla10317 20211017 - 9606 1524 CX3CR1 - CCRL1|CMKBRL1|CMKDR1|GPR13|GPRV28|V28 MIM:601470|HGNC:HGNC:2558|Ensembl:ENSG00000168329 3 3p22.2 C-X3-C motif chemokine receptor 1 protein-coding CX3CR1 C-X3-C motif chemokine receptor 1 O CX3C chemokine receptor 1|C-X3-C CKR-1|CMK-BRL-1|CMK-BRL1|G-protein coupled receptor 13|beta chemokine receptor-like 1|chemokine (C-C) receptor-like 1|chemokine (C-X3-C motif) receptor 1|chemokine (C-X3-C) receptor 1|fractalkine receptor 20211031 - 9606 1525 CXADR - CAR|CAR4/6|HCAR MIM:602621|HGNC:HGNC:2559|Ensembl:ENSG00000154639 21 21q21.1 CXADR Ig-like cell adhesion molecule protein-coding CXADR CXADR Ig-like cell adhesion molecule O coxsackievirus and adenovirus receptor|46 kD coxsackievirus and adenovirus receptor (CAR) protein|CVB3-binding protein|HCVADR|coxsackie virus and adenovirus receptor|coxsackievirus B-adenovirus receptor 20210708 - 9606 1526 CXB3S - CB3S MIM:120050 19 19pter-q13 coxsackie virus B3 sensitivity unknown - - - - 20191002 - 9606 1527 TEX28 - CXorf2|MRX99|TEX28P1|TEX28P2|fTEX MIM:300092|HGNC:HGNC:2563|Ensembl:ENSG00000278057 X Xq28 testis expressed 28 protein-coding TEX28 testis expressed 28 O testis-specific protein TEX28 20210627 - 9606 1528 CYB5A - CYB5|MCB5|METAG MIM:613218|HGNC:HGNC:2570|Ensembl:ENSG00000166347 18 18q22.3 cytochrome b5 type A protein-coding CYB5A cytochrome b5 type A O cytochrome b5|cytochrome b5 type A (microsomal)|epididymis secretory sperm binding protein|type 1 cyt-b5 20210822 - 9606 1531 CYB5AP3 - CYB5P3|Psgb-5-1 HGNC:HGNC:2574 14 14q32.12 cytochrome b5 type A pseudogene 3 pseudo CYB5AP3 cytochrome b5 type A pseudogene 3 O cytochrome b-5 pseudogene 1|cytochrome b-5 pseudogene 3|cytochrome b5 type A (microsomal) pseudogene 3 20210611 - 9606 1532 CYB5AP4 - CYB5P4|Psgb-5-2|bA189G24.1 HGNC:HGNC:2575 20 20p11.21 cytochrome b5 type A pseudogene 4 pseudo CYB5AP4 cytochrome b5 type A pseudogene 4 O cytochrome b-5 pseudogene 4|cytochrome b5 type A (microsomal) pseudogene 4 20210611 - 9606 1534 CYB561 - CYB561A1|FRRS2|ORTHYP2 MIM:600019|HGNC:HGNC:2571|Ensembl:ENSG00000008283 17 17q23.3 cytochrome b561 protein-coding CYB561 cytochrome b561 O transmembrane ascorbate-dependent reductase CYB561|cytochrome b-561|cytochrome b561 family, member A1|ferric-chelate reductase 2 20210611 - 9606 1535 CYBA - CGD4|p22-PHOX MIM:608508|HGNC:HGNC:2577|Ensembl:ENSG00000051523 16 16q24.2 cytochrome b-245 alpha chain protein-coding CYBA cytochrome b-245 alpha chain O cytochrome b-245 light chain|cytochrome b light chain|cytochrome b(558) alpha chain|cytochrome b(558) alpha-subunit|cytochrome b, alpha polypeptide|cytochrome b-245, alpha polypeptide|cytochrome b558 subunit alpha|flavocytochrome b-558 alpha polypeptide|neutrophil cytochrome b 22 kDa polypeptide|p22 phagocyte B-cytochrome|p22phox|superoxide-generating NADPH oxidase light chain subunit 20210919 - 9606 1536 CYBB - AMCBX2|CGD|CGDX|GP91-1|GP91-PHOX|GP91PHOX|IMD34|NOX2|p91-PHOX MIM:300481|HGNC:HGNC:2578|Ensembl:ENSG00000165168 X Xp21.1-p11.4 cytochrome b-245 beta chain protein-coding CYBB cytochrome b-245 beta chain O cytochrome b-245 heavy chain|CGD91-phox|NADPH oxidase 2|cytochrome b(558) subunit beta|cytochrome b-245 beta polypeptide|cytochrome b558 subunit beta|heme-binding membrane glycoprotein gp91phox|neutrophil cytochrome b 91 kDa polypeptide|p22 phagocyte B-cytochrome|superoxide-generating NADPH oxidase heavy chain subunit 20211031 - 9606 1537 CYC1 - MC3DN6|UQCR4 MIM:123980|HGNC:HGNC:2579|Ensembl:ENSG00000179091 8 8q24.3 cytochrome c1 protein-coding CYC1 cytochrome c1 O cytochrome c1, heme protein, mitochondrial|complex III subunit 4|complex III subunit IV|cytochrome b-c1 complex subunit 4|cytochrome c-1|ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit 20210708 - 9606 1538 CYLC1 - CYCL1 MIM:300768|HGNC:HGNC:2582|Ensembl:ENSG00000183035 X Xq21.1 cylicin 1 protein-coding CYLC1 cylicin 1 O cylicin-1|cylicin I|cylicin, basic protein of sperm head cytoskeleton 1|multiple-band polypeptide I 20210708 - 9606 1539 CYLC2 - - MIM:604035|HGNC:HGNC:2583|Ensembl:ENSG00000155833 9 9q31.1 cylicin 2 protein-coding CYLC2 cylicin 2 O cylicin-2|cylicin II|cylicin, basic protein of sperm head cytoskeleton 2|multiple-band polypeptide II 20210708 - 9606 1540 CYLD - BRSS|CDMT|CYLD1|CYLDI|EAC|FTDALS8|MFT|MFT1|SBS|TEM|USPL2 MIM:605018|HGNC:HGNC:2584|Ensembl:ENSG00000083799 16 16q12.1 CYLD lysine 63 deubiquitinase protein-coding CYLD CYLD lysine 63 deubiquitinase O ubiquitin carboxyl-terminal hydrolase CYLD|cylindromatosis (turban tumor syndrome)|deubiquitinating enzyme CYLD|probable ubiquitin carboxyl-terminal hydrolase CYLD|ubiquitin specific peptidase like 2|ubiquitin thioesterase CYLD|ubiquitin thiolesterase CYLD|ubiquitin-specific-processing protease CYLD 20211026 - 9606 1541 CYMD - DCMD|MDDC MIM:153880 7 7p21-p15 cystoid macular dystrophy unknown - - - - 20191002 - 9606 1543 CYP1A1 - AHH|AHRR|CP11|CYP1|CYPIA1|P1-450|P450-C|P450DX MIM:108330|HGNC:HGNC:2595|Ensembl:ENSG00000140465 15 15q24.1 cytochrome P450 family 1 subfamily A member 1 protein-coding CYP1A1 cytochrome P450 family 1 subfamily A member 1 O cytochrome P450 1A1|aryl hydrocarbon hydroxylase|cytochrome P1-450, dioxin-inducible|cytochrome P450 form 6|cytochrome P450, family 1, subfamily A, polypeptide 1|cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1|cytochrome P450-C|cytochrome P450-P1|flavoprotein-linked monooxygenase|hydroperoxy icosatetraenoate dehydratase|xenobiotic monooxygenase 20210919 - 9606 1544 CYP1A2 - CP12|CYPIA2|P3-450|P450(PA) MIM:124060|HGNC:HGNC:2596|Ensembl:ENSG00000140505 15 15q24.1 cytochrome P450 family 1 subfamily A member 2 protein-coding CYP1A2 cytochrome P450 family 1 subfamily A member 2 O cytochrome P450 1A2|P450 form 4|aryl hydrocarbon hydroxylase|cholesterol 25-hydroxylase|cytochrome P(3)450|cytochrome P450 4|cytochrome P450, family 1, subfamily A, polypeptide 2|cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2|cytochrome P450-P3|dioxin-inducible P3-450|flavoprotein-linked monooxygenase|hydroperoxy icosatetraenoate dehydratase|microsomal monooxygenase|xenobiotic monooxygenase 20211026 - 9606 1545 CYP1B1 - ASGD6|CP1B|CYPIB1|GLC3A|P4501B1 MIM:601771|HGNC:HGNC:2597|Ensembl:ENSG00000138061 2 2p22.2 cytochrome P450 family 1 subfamily B member 1 protein-coding CYP1B1 cytochrome P450 family 1 subfamily B member 1 O cytochrome P450 1B1|aryl hydrocarbon hydroxylase|cytochrome P450, family 1, subfamily B, polypeptide 1|cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)|dioxin-inducible cytochrome p450|flavoprotein-linked monooxygenase|hydroperoxy icosatetraenoate dehydratase|microsomal monooxygenase|xenobiotic monooxygenase 20210926 - 9606 1548 CYP2A6 - CPA6|CYP2A|CYP2A3|CYPIIA6|P450C2A|P450PB MIM:122720|HGNC:HGNC:2610|Ensembl:ENSG00000255974 19 19q13.2 cytochrome P450 family 2 subfamily A member 6 protein-coding CYP2A6 cytochrome P450 family 2 subfamily A member 6 O cytochrome P450 2A6|1,4-cineole 2-exo-monooxygenase|coumarin 7-hydroxylase|cytochrome P450 IIA3|cytochrome P450(I)|cytochrome P450, family 2, subfamily A, polypeptide 6|cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6|flavoprotein-linked monooxygenase|xenobiotic monooxygenase 20211031 - 9606 1549 CYP2A7 - CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 MIM:608054|HGNC:HGNC:2611|Ensembl:ENSG00000198077 19 19q13.2 cytochrome P450 family 2 subfamily A member 7 protein-coding CYP2A7 cytochrome P450 family 2 subfamily A member 7 O cytochrome P450 2A7|cytochrome P450 IIA4|cytochrome P450, family 2, subfamily A, polypeptide 7|cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7|cytochrome P450IIA4 20211028 - 9606 1550 CYP2A7P1 - CYP2A18PC|CYP2A18PN|CYP2A7P2|CYP2A7PT HGNC:HGNC:2612|Ensembl:ENSG00000213908 19 19q13.2 cytochrome P450 family 2 subfamily A member 7 pseudogene 1 pseudo CYP2A7P1 cytochrome P450 family 2 subfamily A member 7 pseudogene 1 O cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 1|cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 2|cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7, pseudogene 1|cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7, pseudogene 2 20210611 - 9606 1551 CYP3A7 - CP37|CYPIIIA7|P-450(HFL33)|P-450111A7|P450-HFLA|P450HLp2 MIM:605340|HGNC:HGNC:2640|Ensembl:ENSG00000160870 7 7q22.1 cytochrome P450 family 3 subfamily A member 7 protein-coding CYP3A7 cytochrome P450 family 3 subfamily A member 7 O cytochrome P450 3A7|aryl hydrocarbon hydroxylase|cytochrome P450, family 3, subfamily A, polypeptide 7|cytochrome P450, subfamily IIIA, polypeptide 7|cytochrome P450-HFLA|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase 20211017 - 9606 1553 CYP2A13 - CPAD|CYP2A|CYPIIA13 MIM:608055|HGNC:HGNC:2608|Ensembl:ENSG00000197838 19 19q13.2 cytochrome P450 family 2 subfamily A member 13 protein-coding CYP2A13 cytochrome P450 family 2 subfamily A member 13 O cytochrome P450 2A13|cytochrome P450, family 2, subfamily A, polypeptide 13|cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13 20211028 - 9606 1555 CYP2B6 - CPB6|CYP2B|CYP2B7|CYP2B7P|CYPIIB6|EFVM|IIB1|P450 MIM:123930|HGNC:HGNC:2615|Ensembl:ENSG00000197408 19 19q13.2 cytochrome P450 family 2 subfamily B member 6 protein-coding CYP2B6 cytochrome P450 family 2 subfamily B member 6 O cytochrome P450 2B6|1,4-cineole 2-exo-monooxygenase|cytochrome P450 IIB1|cytochrome P450, family 2, subfamily B, polypeptide 6|cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6 20211028 - 9606 1556 CYP2B7P - CYP2B|CYP2B7|CYP2B7P1 HGNC:HGNC:2616|Ensembl:ENSG00000256612 19 19q13.2 cytochrome P450 family 2 subfamily B member 7, pseudogene pseudo CYP2B7P cytochrome P450 family 2 subfamily B member 7, pseudogene O cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1|cytochrome P450, family 2, subfamily B, polypeptide 7, pseudogene|cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 7 20210611 - 9606 1557 CYP2C19 - CPCJ|CYP2C|CYPIIC17|CYPIIC19|P450C2C|P450IIC19 MIM:124020|HGNC:HGNC:2621|Ensembl:ENSG00000165841 10 10q23.33 cytochrome P450 family 2 subfamily C member 19 protein-coding CYP2C19 cytochrome P450 family 2 subfamily C member 19 O cytochrome P450 2C19|(R)-limonene 6-monooxygenase|(S)-limonene 6-monooxygenase|(S)-limonene 7-monooxygenase|S-mephenytoin 4-hydroxylase|cytochrome P-450 II C|cytochrome P450, family 2, subfamily C, polypeptide 19|cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19|cytochrome P450-11A|cytochrome P450-254C|fenbendazole monooxygenase (4'-hydroxylating)|flavoprotein-linked monooxygenase|mephenytoin 4'-hydroxylase|mephenytoin 4-hydroxylase|microsomal monooxygenase|xenobiotic monooxygenase 20211031 - 9606 1558 CYP2C8 - CPC8|CYP2C8DM|CYPIIC8|MP-12/MP-20 MIM:601129|HGNC:HGNC:2622|Ensembl:ENSG00000138115 10 10q23.33 cytochrome P450 family 2 subfamily C member 8 protein-coding CYP2C8 cytochrome P450 family 2 subfamily C member 8 O cytochrome P450 2C8|P450 form 1|cytochrome P450 IIC2|cytochrome P450 MP-12|cytochrome P450 MP-20|cytochrome P450 form 1|cytochrome P450, family 2, subfamily C, polypeptide 8|cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8|flavoprotein-linked monooxygenase|microsomal monooxygenase|s-mephenytoin 4-hydroxylase|xenobiotic monooxygenase 20211028 - 9606 1559 CYP2C9 - CPC9|CYP2C|CYP2C10|CYPIIC9|P450IIC9 MIM:601130|HGNC:HGNC:2623|Ensembl:ENSG00000138109 10 10q23.33 cytochrome P450 family 2 subfamily C member 9 protein-coding CYP2C9 cytochrome P450 family 2 subfamily C member 9 O cytochrome P450 2C9|cytochrome P-450 S-mephenytoin 4-hydroxylase|cytochrome P-450MP|cytochrome P450 PB-1|cytochrome P450, family 2, subfamily C, polypeptide 9|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase 20211031 - 9606 1562 CYP2C18 - CPCI|CYP2C|CYP2C17|P450-6B/29C|P450IIC17 MIM:601131|HGNC:HGNC:2620|Ensembl:ENSG00000108242 10 10q23.33 cytochrome P450 family 2 subfamily C member 18 protein-coding CYP2C18 cytochrome P450 family 2 subfamily C member 18 O cytochrome P450 2C18|(S)-mephenytoin hydroxylase associated cytochrome P450|CYPIIC18|cytochrome P450, family 2, subfamily C, polypeptide 18|cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 17|cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18|cytochrome P450-6B/29C|flavoprotein-linked monooxygenase|microsomal monooxygenase|unspecific monooxygenase 20211028 - 9606 1564 CYP2D7 - CYP2D|CYP2D6|CYP2D7AP|CYP2D7P|CYP2D7P1|CYP2D@|P450C2D|P450DB1|RNA40057 HGNC:HGNC:2624 22 22q13.2 cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene) protein-coding CYP2D7 cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene) O putative cytochrome P450 2D7|Putative cytochrome P450 2D7|cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1|cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 1|cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing) cluster|cytochrome P4502D6|nonfunctional cytochrome P450 family 2 subfamily D polypeptide 6 20211028 - 9606 1565 CYP2D6 - CPD6|CYP2D|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|CYP2DL1|CYPIID6|P450-DB1|P450C2D|P450DB1 MIM:124030|HGNC:HGNC:2625|Ensembl:ENSG00000100197 22 22q13.2 cytochrome P450 family 2 subfamily D member 6 protein-coding CYP2D6 cytochrome P450 family 2 subfamily D member 6 O cytochrome P450 2D6|cholesterol 25-hydroxylase|cytochrome P450, family 2, subfamily D, polypeptide 6|cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2|cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2|cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2|cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2|cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6|cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing)-like 1|cytochrome P450-DB1|debrisoquine 4-hydroxylase|flavoprotein-linked monooxygenase|microsomal monooxygenase|nonfunctional cytochrome P450 2D6|xenobiotic monooxygenase 20211031 - 9606 1566 CYP2D7BP - - - 22 22q13.2 cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 7b (pseudogene) pseudo - - - - 20210611 - 9606 1568 CYP2D8P - CYP2D8P1|CYP2DP1 HGNC:HGNC:2628|Ensembl:ENSG00000226450 22 22q13.2 ccytochrome P450 family 2 subfamily D member 8, pseudogene pseudo CYP2D8P ccytochrome P450 family 2 subfamily D member 8, pseudogene O cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 1|cytochrome P450, family 2, subfamily D, polypeptide 8, pseudogene|cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 8 pseudogene 1 20210611 - 9606 1571 CYP2E1 - CPE1|CYP2E|P450-J|P450C2E MIM:124040|HGNC:HGNC:2631|Ensembl:ENSG00000130649 10 10q26.3 cytochrome P450 family 2 subfamily E member 1 protein-coding CYP2E1 cytochrome P450 family 2 subfamily E member 1 O cytochrome P450 2E1|4-nitrophenol 2-hydroxylase|CYPIIE1|cytochrome P450, family 2, subfamily E, polypeptide 1|cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1|cytochrome P450-J|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase 20211028 - 9606 1572 CYP2F1 - C2F1|CYP2F|CYPIIF1 MIM:124070|HGNC:HGNC:2632|Ensembl:ENSG00000197446 19 19q13.2 cytochrome P450 family 2 subfamily F member 1 protein-coding CYP2F1 cytochrome P450 family 2 subfamily F member 1 O cytochrome P450 2F1|cytochrome P450, family 2, subfamily F, polypeptide 1|cytochrome P450, subfamily IIF, polypeptide 1|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase 20211028 - 9606 1573 CYP2J2 - CPJ2|CYPIIJ2 MIM:601258|HGNC:HGNC:2634|Ensembl:ENSG00000134716 1 1p32.1 cytochrome P450 family 2 subfamily J member 2 protein-coding CYP2J2 cytochrome P450 family 2 subfamily J member 2 O cytochrome P450 2J2|albendazole monooxygenase (hydroxylating)|albendazole monooxygenase (sulfoxide-forming)|arachidonic acid epoxygenase|cytochrome P450, family 2, subfamily J, polypeptide 2|cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2|flavoprotein-linked monooxygenase|hydroperoxy icosatetraenoate isomerase|microsomal monooxygenase 20211028 - 9606 1576 CYP3A4 - CP33|CP34|CYP3A|CYP3A3|CYPIIIA3|CYPIIIA4|HLP|NF-25|P450C3|P450PCN1|VDDR3 MIM:124010|HGNC:HGNC:2637|Ensembl:ENSG00000160868 7 7q22.1 cytochrome P450 family 3 subfamily A member 4 protein-coding CYP3A4 cytochrome P450 family 3 subfamily A member 4 O cytochrome P450 3A4|1,4-cineole 2-exo-monooxygenase|1,8-cineole 2-exo-monooxygenase|P450-III, steroid inducible|albendazole monooxygenase (sulfoxide-forming)|albendazole sulfoxidase|cholesterol 25-hydroxylase|cytochrome P450 3A3|cytochrome P450 HLp|cytochrome P450 NF-25|cytochrome P450, family 3, subfamily A, polypeptide 4|cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 3|cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4|cytochrome P450-PCN1|glucocorticoid-inducible P450|nifedipine oxidase|quinine 3-monooxygenase|taurochenodeoxycholate 6-alpha-hydroxylase 20211031 - 9606 1577 CYP3A5 - CP35|CYPIIIA5|P450PCN3|PCN3 MIM:605325|HGNC:HGNC:2638|Ensembl:ENSG00000106258 7 7q22.1 cytochrome P450 family 3 subfamily A member 5 protein-coding CYP3A5 cytochrome P450 family 3 subfamily A member 5 O cytochrome P450 3A5|aryl hydrocarbon hydroxylase|cytochrome P450 HLp2|cytochrome P450, family 3, subfamily A, polypeptide 5|cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5|cytochrome P450-PCN3|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase 20211003 - 9606 1578 CYP3A51P - CYP3A5-de13c|CYP3A5-de1b2b|CYP3A5P1|CYP3AP1 HGNC:HGNC:42418|Ensembl:ENSG00000282277 7 7q22.1 cytochrome P450 family 3 subfamily A member 51, pseudogene pseudo CYP3A51P cytochrome P450 family 3 subfamily A member 51, pseudogene O cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 1|cytochrome P450, family 3, subfamily A, polypeptide 51, pseudogene|cytochrome P450, subfamily IIIA (niphedipine oxidase), pseudogene 1 20210611 - 9606 1579 CYP4A11 - CP4Y|CYP4A2|CYP4AII|CYPIVA11 MIM:601310|HGNC:HGNC:2642|Ensembl:ENSG00000187048 1 1p33 cytochrome P450 family 4 subfamily A member 11 protein-coding CYP4A11 cytochrome P450 family 4 subfamily A member 11 O cytochrome P450 4A11|20-HETE synthase|20-hydroxyeicosatetraenoic acid synthase|P450HL-omega|alkane-1 monooxygenase|cytochrome P-450HK-omega|cytochrome P450, family 4, subfamily A, polypeptide 11|cytochrome P450, subfamily IVA, polypeptide 11|cytochrome P450HL-omega|fatty acid omega-hydroxylase|lauric acid omega-hydroxylase|long-chain fatty acid omega-monooxygenase 20210708 - 9606 1580 CYP4B1 - CYPIVB1|P-450HP MIM:124075|HGNC:HGNC:2644|Ensembl:ENSG00000142973 1 1p33 cytochrome P450 family 4 subfamily B member 1 protein-coding CYP4B1 cytochrome P450 family 4 subfamily B member 1 O cytochrome P450 4B1|cytochrome P450, family 4, subfamily B, polypeptide 1|cytochrome P450, subfamily IVB, polypeptide 1|cytochrome P450-HP|microsomal monooxygenase 20210809 - 9606 1581 CYP7A1 - CP7A|CYP7|CYPVII MIM:118455|HGNC:HGNC:2651|Ensembl:ENSG00000167910 8 8q12.1 cytochrome P450 family 7 subfamily A member 1 protein-coding CYP7A1 cytochrome P450 family 7 subfamily A member 1 O cytochrome P450 7A1|24-hydroxycholesterol 7-alpha-hydroxylase|cholesterol 7-alpha-hydroxylase|cholesterol 7-alpha-monooxygenase|cholesterol 7alpha-hydroxylase|cytochrome P450, family 7, subfamily A, polypeptide 1|cytochrome P450, subfamily VIIA polypeptide 1 20210708 - 9606 1582 CYP8B1 - CP8B|CYP12 MIM:602172|HGNC:HGNC:2653|Ensembl:ENSG00000180432 3 3p22.1 cytochrome P450 family 8 subfamily B member 1 protein-coding CYP8B1 cytochrome P450 family 8 subfamily B member 1 O 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase|7 alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase|CYPVIIIB1|cytochrome P450 8B1|cytochrome P450, family 8, subfamily B, polypeptide 1|cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1|sterol 12-alpha-hydroxylase 20210708 - 9606 1583 CYP11A1 - CYP11A|CYPXIA1|P450SCC MIM:118485|HGNC:HGNC:2590|Ensembl:ENSG00000140459 15 15q24.1 cytochrome P450 family 11 subfamily A member 1 protein-coding CYP11A1 cytochrome P450 family 11 subfamily A member 1 O cholesterol side-chain cleavage enzyme, mitochondrial|cholesterol 20-22 desmolase|cholesterol monooxygenase (side-chain cleaving)|cytochrome P450 11A1|cytochrome P450 family 11 subfamily A polypeptide 1|cytochrome P450(scc)|cytochrome P450, subfamily XIA (cholesterol side chain cleavage)|steroid 20-22-lyase 20210708 - 9606 1584 CYP11B1 - CPN1|CYP11B|FHI|P450C11 MIM:610613|HGNC:HGNC:2591|Ensembl:ENSG00000160882 8 8q24.3 cytochrome P450 family 11 subfamily B member 1 protein-coding CYP11B1 cytochrome P450 family 11 subfamily B member 1 O cytochrome P450 11B1, mitochondrial|cytochrome P-450c11|cytochrome P450, family 11, subfamily B, polypeptide 1|cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1|cytochrome P450C11|cytochrome p450 XIB1|steroid 11-beta-hydroxylase, CYP11B1|steroid 11-beta-monooxygenase 20211031 - 9606 1585 CYP11B2 - ALDOS|CPN2|CYP11B|CYP11BL|CYPXIB2|P-450C18|P450C18|P450aldo MIM:124080|HGNC:HGNC:2592|Ensembl:ENSG00000179142 8 8q24.3 cytochrome P450 family 11 subfamily B member 2 protein-coding CYP11B2 cytochrome P450 family 11 subfamily B member 2 O cytochrome P450 11B2, mitochondrial|aldosterone synthase|aldosterone-synthesizing enzyme|corticosterone 18-monooxygenase, CYP11B2|cytochrome P-450Aldo|cytochrome P-450C18|cytochrome P450, family 11, subfamily B, polypeptide 2|cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2|mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2|steroid 11-beta-hydroxylase, CYP11B2|steroid 11-beta-monooxygenase|steroid 11-beta/18-hydroxylase|steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo 20210906 - 9606 1586 CYP17A1 - CPT7|CYP17|P450C17|S17AH MIM:609300|HGNC:HGNC:2593|Ensembl:ENSG00000148795 10 10q24.32 cytochrome P450 family 17 subfamily A member 1 protein-coding CYP17A1 cytochrome P450 family 17 subfamily A member 1 O steroid 17-alpha-hydroxylase/17,20 lyase|17-alpha-hydroxyprogesterone aldolase|CYPXVII|cytochrome P450 17A1|cytochrome P450, family 17, subfamily A, polypeptide 1|cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia|cytochrome P450-C17|cytochrome P450c17|cytochrome p450 XVIIA1|steroid 17-alpha-monooxygenase 20211026 - 9606 1587 ADAM3A - ADAM3|CYRN1|tMDCI HGNC:HGNC:209|Ensembl:ENSG00000197475 8 8p11.22 ADAM metallopeptidase domain 3A (pseudogene) pseudo ADAM3A ADAM metallopeptidase domain 3A (pseudogene) O a disintegrin and metalloproteinase domain 3a (cyritestin 1)|cyritestin 1 20210611 - 9606 1588 CYP19A1 - ARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM MIM:107910|HGNC:HGNC:2594|Ensembl:ENSG00000137869 15 15q21.2 cytochrome P450 family 19 subfamily A member 1 protein-coding CYP19A1 cytochrome P450 family 19 subfamily A member 1 O aromatase|cytochrome P-450AROM|cytochrome P450 19A1|cytochrome P450, family 19, subfamily A, polypeptide 1|cytochrome P450, subfamily XIX (aromatization of androgens)|estrogen synthase|estrogen synthetase|flavoprotein-linked monooxygenase|microsomal monooxygenase 20211031 - 9606 1589 CYP21A2 - CA21H|CAH1|CPS1|CYP21|CYP21B|P450c21B MIM:613815|HGNC:HGNC:2600|Ensembl:ENSG00000231852 6 6p21.33 cytochrome P450 family 21 subfamily A member 2 protein-coding CYP21A2 cytochrome P450 family 21 subfamily A member 2 O steroid 21-hydroxylase|21-OHase|cytochrome P450 XXI|cytochrome P450, family 21, subfamily A, polypeptide 2|cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2|cytochrome P450-C21B|steroid 21 hydroxylase|steroid 21-monooxygenase 20211031 - 9606 1590 CYP21A1P - CYP21A|CYP21P|P450c21A HGNC:HGNC:2599|Ensembl:ENSG00000204338 6 6p21.33 cytochrome P450 family 21 subfamily A member 1, pseudogene pseudo CYP21A1P cytochrome P450 family 21 subfamily A member 1, pseudogene O cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene|cytochrome P450, subfamily XXI (steroid 21-hydroxylase) pseudogene|cytochrome P450, subfamily XXIA (steroid 21-hydroxylase), polypeptide 1 pseudogene 20210611 - 9606 1591 CYP24A1 - CP24|CYP24|HCAI|HCINF1|P450-CC24 MIM:126065|HGNC:HGNC:2602|Ensembl:ENSG00000019186 20 20q13.2 cytochrome P450 family 24 subfamily A member 1 protein-coding CYP24A1 cytochrome P450 family 24 subfamily A member 1 O 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial|1,25-@dihydroxyvitamin D3 24-hydroxylase|24-OHase|cytochrome P450 24A1|cytochrome P450, family 24, subfamily A, polypeptide 1|cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)|cytochrome P450-CC24|exo-mitochondrial protein|vitamin D 24-hydroxylase|vitamin D(3) 24-hydroxylase 20211031 - 9606 1592 CYP26A1 - CP26|CYP26|P450RAI|P450RAI1 MIM:602239|HGNC:HGNC:2603|Ensembl:ENSG00000095596 10 10q23.33 cytochrome P450 family 26 subfamily A member 1 protein-coding CYP26A1 cytochrome P450 family 26 subfamily A member 1 O cytochrome P450 26A1|P450, retinoic acid-inactivating, 1|cytochrome P450 retinoic acid-inactivating 1|cytochrome P450, family 26, subfamily A, polypeptide 1|cytochrome P450, subfamily XXVIA, polypeptide 1|cytochrome P450RAI|hP450RAI|retinoic acid 4-hydroxylase|retinoic acid-metabolizing cytochrome 20210926 - 9606 1593 CYP27A1 - CP27|CTX|CYP27 MIM:606530|HGNC:HGNC:2605|Ensembl:ENSG00000135929 2 2q35 cytochrome P450 family 27 subfamily A member 1 protein-coding CYP27A1 cytochrome P450 family 27 subfamily A member 1 O sterol 26-hydroxylase, mitochondrial|5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase|5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase|cholestanetriol 26-monooxygenase|cytochrome P-450C27/25|cytochrome P450 27|cytochrome P450, family 27, subfamily A, polypeptide 1|cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1|sterol 27-hydroxylase|vitamin D(3) 25-hydroxylase 20211031 - 9606 1594 CYP27B1 - CP2B|CYP1|CYP1alpha|CYP27B|P450c1|PDDR|VDD1|VDDR|VDDRI|VDR MIM:609506|HGNC:HGNC:2606|Ensembl:ENSG00000111012 12 12q14.1 cytochrome P450 family 27 subfamily B member 1 protein-coding CYP27B1 cytochrome P450 family 27 subfamily B member 1 O 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial|1alpha(OH)ase|25 hydroxyvitamin D3-1-alpha hydroxylase|25-OHD-1 alpha-hydroxylase|VD3 1A hydroxylase|calcidiol 1-monooxygenase|cytochrome P450 subfamily XXVIIB polypeptide 1|cytochrome P450, family 27, subfamily B, polypeptide 1|cytochrome P450C1 alpha|cytochrome P450VD1-alpha|cytochrome p450 27B1 20211031 - 9606 1595 CYP51A1 - CP51|CYP51|CYPL1|LDM|P450-14DM|P450L1 MIM:601637|HGNC:HGNC:2649|Ensembl:ENSG00000001630 7 7q21.2 cytochrome P450 family 51 subfamily A member 1 protein-coding CYP51A1 cytochrome P450 family 51 subfamily A member 1 O lanosterol 14-alpha demethylase|CYPLI|cytochrome P450 51A1|cytochrome P450, 51 (lanosterol 14-alpha-demethylase)|cytochrome P450, family 51, subfamily A, polypeptide 1|cytochrome P450-14DM|cytochrome P45014DM|cytochrome P450LI|sterol 14-alpha demethylase 20210905 - 9606 1596 ADAM3B - CYRN2 HGNC:HGNC:210|Ensembl:ENSG00000260089 16 16q12.1 ADAM metallopeptidase domain 3B (pseudogene) pseudo ADAM3B ADAM metallopeptidase domain 3B (pseudogene) O ADAM metallopeptidase domain 3B (cyritestin 2)|ADAM metallopeptidase domain 3B (non-functional)|a disintegrin and metalloproteinase domain 3b (cyritestin 2)|cyritestin 2 20210611 - 9606 1600 DAB1 - SCA37 MIM:603448|HGNC:HGNC:2661|Ensembl:ENSG00000173406 1 1p32.2-p32.1 DAB adaptor protein 1 protein-coding DAB1 DAB adaptor protein 1 O disabled homolog 1|DAB1, reelin adaptor protein|Dab reelin signal transducer 1|Dab, reelin signal transducer, homolog 1 20210912 - 9606 1601 DAB2 - DOC-2|DOC2 MIM:601236|HGNC:HGNC:2662|Ensembl:ENSG00000153071 5 5p13.1 DAB adaptor protein 2 protein-coding DAB2 DAB adaptor protein 2 O disabled homolog 2|DAB2, clathrin adaptor protein|Dab, mitogen-responsive phosphoprotein, homolog 2|adaptor molecule disabled-2|differentially expressed in ovarian carcinoma 2|differentially-expressed protein 2|disabled homolog 2, mitogen-responsive phosphoprotein 20210912 - 9606 1602 DACH1 - DACH MIM:603803|HGNC:HGNC:2663|Ensembl:ENSG00000276644 13 13q21.33 dachshund family transcription factor 1 protein-coding DACH1 dachshund family transcription factor 1 O dachshund homolog 1|dac homolog 20211017 - 9606 1603 DAD1 - OST2 MIM:600243|HGNC:HGNC:2664|Ensembl:ENSG00000129562 14 14q11.2 defender against cell death 1 protein-coding DAD1 defender against cell death 1 O dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1|DAD-1|oligosaccharyl transferase subunit DAD1|oligosaccharyltransferase 2 homolog|oligosaccharyltransferase subunit 2 (non-catalytic) 20210822 - 9606 1604 CD55 - CHAPLE|CR|CROM|DAF|TC MIM:125240|HGNC:HGNC:2665|Ensembl:ENSG00000196352 1 1q32.2 CD55 molecule (Cromer blood group) protein-coding CD55 CD55 molecule (Cromer blood group) O complement decay-accelerating factor|CD55 antigen|CD55 molecule, decay accelerating factor for complement (Cromer blood group)|Cromer blood group antigen|Rh blood group D antigen 20211026 - 9606 1605 DAG1 - 156DAG|A3a|AGRNR|DAG|LGMDR16|MDDGA9|MDDGC7|MDDGC9 MIM:128239|HGNC:HGNC:2666|Ensembl:ENSG00000173402 3 3p21.31 dystroglycan 1 protein-coding DAG1 dystroglycan 1 O dystroglycan|dystroglycan 1 (dystrophin-associated glycoprotein 1) 20210708 - 9606 1606 DGKA - DAGK|DAGK1|DGK-alpha MIM:125855|HGNC:HGNC:2849|Ensembl:ENSG00000065357 12 12q13.2 diacylglycerol kinase alpha protein-coding DGKA diacylglycerol kinase alpha O diacylglycerol kinase alpha|80 kDa diacylglycerol kinase|DAG kinase alpha|diacylglycerol kinase, alpha 80kDa|diglyceride kinase alpha 20210708 - 9606 1607 DGKB - DAGK2|DGK|DGK-BETA MIM:604070|HGNC:HGNC:2850|Ensembl:ENSG00000136267 7 7p21.2 diacylglycerol kinase beta protein-coding DGKB diacylglycerol kinase beta O diacylglycerol kinase beta|90 kDa diacylglycerol kinase|DAG kinase beta|diacylglycerol kinase, beta 90kDa|diglyceride kinase beta 20210708 - 9606 1608 DGKG - DAGK3|DGK-GAMMA MIM:601854|HGNC:HGNC:2853|Ensembl:ENSG00000058866 3 3q27.2-q27.3 diacylglycerol kinase gamma protein-coding DGKG diacylglycerol kinase gamma O diacylglycerol kinase gamma|DAG kinase gamma|diacylglycerol kinase, gamma 90kDa|diacylglyerol kinase gamma|diglyceride kinase gamma 20210708 - 9606 1609 DGKQ - DAGK|DAGK4|DAGK7 MIM:601207|HGNC:HGNC:2856|Ensembl:ENSG00000145214 4 4p16.3 diacylglycerol kinase theta protein-coding DGKQ diacylglycerol kinase theta O diacylglycerol kinase theta|DAG kinase theta|DGK-theta|DGKtheta|diacylglycerol kinase, theta 110kDa|diglyceride kinase theta|testis tissue sperm-binding protein Li 38a 20210926 - 9606 1610 DAO - DAAO|DAMOX|OXDA MIM:124050|HGNC:HGNC:2671|Ensembl:ENSG00000110887 12 12q24.11 D-amino acid oxidase protein-coding DAO D-amino acid oxidase O D-amino-acid oxidase 20210731 - 9606 1611 DAP - - MIM:600954|HGNC:HGNC:2672|Ensembl:ENSG00000112977 5 5p15.2 death associated protein protein-coding DAP death associated protein O death-associated protein 1|DAP-1 20210808 - 9606 1612 DAPK1 - DAPK|ROCO3 MIM:600831|HGNC:HGNC:2674|Ensembl:ENSG00000196730 9 9q21.33 death associated protein kinase 1 protein-coding DAPK1 death associated protein kinase 1 O death-associated protein kinase 1|DAP kinase 1 20211028 - 9606 1613 DAPK3 - DLK|ZIP|ZIPK MIM:603289|HGNC:HGNC:2676|Ensembl:ENSG00000167657 19 19p13.3 death associated protein kinase 3 protein-coding DAPK3 death associated protein kinase 3 O death-associated protein kinase 3|DAP kinase 3|DAP-like kinase|MYPT1 kinase|ZIP-kinase|zipper-interacting protein kinase 20211028 - 9606 1615 DARS1 - DARS|HBSL|aspRS MIM:603084|HGNC:HGNC:2678|Ensembl:ENSG00000115866 2 2q21.3 aspartyl-tRNA synthetase 1 protein-coding DARS1 aspartyl-tRNA synthetase 1 O aspartate--tRNA ligase, cytoplasmic|aspartate tRNA ligase 1, cytoplasmic|aspartyl-tRNA synthetase, cytoplasmic|cell proliferation-inducing gene 40 protein|testicular tissue protein Li 192 20210905 - 9606 1616 DAXX - BING2|DAP6|EAP1|SMIM40 MIM:603186|HGNC:HGNC:2681|Ensembl:ENSG00000204209 6 6p21.32 death domain associated protein protein-coding DAXX death domain associated protein O death domain-associated protein 6|CENP-C binding protein|ETS1-associated protein 1|Fas-binding protein|death-associated protein 6|fas death domain-associated protein 20210926 - 9606 1617 DAZ1 - DAZ|SPGY MIM:400003|HGNC:HGNC:2682|Ensembl:ENSG00000188120 Y Yq11.223 deleted in azoospermia 1 protein-coding DAZ1 deleted in azoospermia 1 O deleted in azoospermia protein 1|testicular tissue protein Li 49 20211009 - 9606 1618 DAZL - DAZH|DAZL1|DAZLA|SPGYLA MIM:601486|HGNC:HGNC:2685|Ensembl:ENSG00000092345 3 3p24.3 deleted in azoospermia like protein-coding DAZL deleted in azoospermia like O deleted in azoospermia-like|DAZ homolog|DAZ-like autosomal|SPGY-like-autosomal|deleted in azoospermia-like 1|germline specific RNA binding protein|spermatogenesis gene on the Y-like autosomal|testis secretory sperm-binding protein Li 204a 20210708 - 9606 1620 BRINP1 - DBC1|DBCCR1|FAM5A MIM:602865|HGNC:HGNC:2687|Ensembl:ENSG00000078725 9 9q33.1 BMP/retinoic acid inducible neural specific 1 protein-coding BRINP1 BMP/retinoic acid inducible neural specific 1 O BMP/retinoic acid-inducible neural-specific protein 1|bA574M5.1 (deleted in bladder cancer chromosome region candidate 1 (IB3089A))|bone morphogenetic protein/retinoic acid inducible neural-specific 1|bone morphogenic protein/retinoic acid inducible neural-specific 1|deleted in bladder cancer 1|deleted in bladder cancer chromosome region candidate 1|deleted in bladder cancer protein 1 20210611 - 9606 1621 DBH - DBM|ORTHYP1 MIM:609312|HGNC:HGNC:2689|Ensembl:ENSG00000123454 9 9q34.2 dopamine beta-hydroxylase protein-coding DBH dopamine beta-hydroxylase O dopamine beta-hydroxylase|dopamine beta-hydroxylase (dopamine beta-monooxygenase) 20210919 - 9606 1622 DBI - ACBD1|ACBP|CCK-RP|EP MIM:125950|HGNC:HGNC:2690|Ensembl:ENSG00000155368 2 2q14.2 diazepam binding inhibitor, acyl-CoA binding protein protein-coding DBI diazepam binding inhibitor, acyl-CoA binding protein O acyl-CoA-binding protein|GABA receptor modulator|acyl coenzyme A binding protein|acyl-Coenzyme A binding domain containing 1|cholecystokinin-releasing peptide, trypsin-sensitive|diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)|diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)|diazepam-binding inhibitor|endozepine|epididymis secretory sperm binding protein 20210708 - 9606 1623 DBIP2 - DBIL1 HGNC:HGNC:2691 5 5q14.1 DBI pseudogene 2 pseudo DBIP2 DBI pseudogene 2 O diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 2|diazepam binding inhibitor, acyl-CoA binding protein pseudogene 2|diazepam binding inhibitor-like 1 20210611 - 9606 1624 DBIP1 - DBIL2 HGNC:HGNC:2692 6 6q14.1 DBI pseudogene 1 pseudo DBIP1 DBI pseudogene 1 O diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 1|diazepam binding inhibitor, acyl-CoA binding protein pseudogene 1|diazepam binding inhibitor-like 2 (a pseudogene)|diazepam binding inhibitor-like 2 (pseudogene) 20210611 - 9606 1627 DBN1 - D0S117E MIM:126660|HGNC:HGNC:2695|Ensembl:ENSG00000113758 5 5q35.3 drebrin 1 protein-coding DBN1 drebrin 1 O drebrin|developmentally-regulated brain protein|drebrin A|drebrin E|drebrin E2 20210904 - 9606 1628 DBP - DABP|taxREB302 MIM:124097|HGNC:HGNC:2697|Ensembl:ENSG00000105516 19 19q13.33 D-box binding PAR bZIP transcription factor protein-coding DBP D-box binding PAR bZIP transcription factor O D site-binding protein|D site of albumin promoter (albumin D-box) binding protein|albumin D box-binding protein|albumin D-element-binding protein|tax-responsive enhancer element-binding protein 302 20210905 - 9606 1629 DBT - BCATE2|BCKAD-E2|BCKADE2|BCKDH-E2|BCOADC-E2|E2|E2B MIM:248610|HGNC:HGNC:2698|Ensembl:ENSG00000137992 1 1p21.2 dihydrolipoamide branched chain transacylase E2 protein-coding DBT dihydrolipoamide branched chain transacylase E2 O lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial|52 kDa mitochondrial autoantigen of primary biliary cirrhosis|BCKAD E2 subunit|E2 component of branched chain alpha-keto acid dehydrogenase complex|branched chain 2-oxo-acid dehydrogenase complex component E2|branched chain acyltransferase, E2 component|branched-chain alpha-keto acid dehydrogenase complex component E2|dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex|dihydrolipoyl transacylase|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase|lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex|mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b) 20210708 - 9606 1630 DCC - CRC18|CRCR1|HGPPS2|IGDCC1|MRMV1|NTN1R1 MIM:120470|HGNC:HGNC:2701|Ensembl:ENSG00000187323 18 18q21.2 DCC netrin 1 receptor protein-coding DCC DCC netrin 1 receptor O netrin receptor DCC|colorectal cancer suppressor|deleted in colorectal carcinoma|immunoglobulin superfamily DCC subclass member 1|putative colorectal tumor suppressor|tumor suppressor protein DCC 20211031 - 9606 1632 ECI1 - DCI MIM:600305|HGNC:HGNC:2703|Ensembl:ENSG00000167969 16 16p13.3 enoyl-CoA delta isomerase 1 protein-coding ECI1 enoyl-CoA delta isomerase 1 O enoyl-CoA delta isomerase 1, mitochondrial|3,2 trans-enoyl-Coenzyme A isomerase|3,2-trans-enoyl-CoA isomerase, mitochondrial|D3,D2-enoyl-CoA isomerase|acetylene-allene isomerase|delta(3),Delta(2)-enoyl-CoA isomerase|dodecenoyl-CoA delta isomerase (3,2 trans-enoyl-CoA isomerase)|dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)|epididymis secretory sperm binding protein 20210708 - 9606 1633 DCK - - MIM:125450|HGNC:HGNC:2704|Ensembl:ENSG00000156136 4 4q13.3 deoxycytidine kinase protein-coding DCK deoxycytidine kinase O deoxycytidine kinase|deoxyadenosine kinase|deoxyguanosine kinase|deoxynucleoside kinase 20210912 - 9606 1634 DCN - CSCD|DSPG2|PG40|PGII|PGS2|SLRR1B MIM:125255|HGNC:HGNC:2705|Ensembl:ENSG00000011465 12 12q21.33 decorin protein-coding DCN decorin O decorin|bone proteoglycan II|dermatan sulphate proteoglycans II|proteoglycan core protein|small leucine-rich protein 1B 20211031 - 9606 1635 DCTD - - MIM:607638|HGNC:HGNC:2710|Ensembl:ENSG00000129187 4 4q35.1 dCMP deaminase protein-coding DCTD dCMP deaminase O deoxycytidylate deaminase 20210905 - 9606 1636 ACE - ACE1|CD143|DCP|DCP1 MIM:106180|HGNC:HGNC:2707|Ensembl:ENSG00000159640 17 17q23.3 angiotensin I converting enzyme protein-coding ACE angiotensin I converting enzyme O angiotensin-converting enzyme|CD143 antigen|angiotensin I converting enzyme (peptidyl-dipeptidase A) 1|carboxycathepsin|dipeptidyl carboxypeptidase 1|dipeptidyl carboxypeptidase I|kininase II|peptidase P 20211026 - 9606 1637 DCR - DSCR MIM:190685|HGNC:HGNC:2708 21 21q22.3 Down syndrome chromosome region other DCR Down syndrome chromosome region O - 20190324 - 9606 1638 DCT - OCA8|TRP-2|TYRP2 MIM:191275|HGNC:HGNC:2709|Ensembl:ENSG00000080166 13 13q32.1 dopachrome tautomerase protein-coding DCT dopachrome tautomerase O L-dopachrome tautomerase|DT|L-dopachrome Delta-isomerase|L-dopachrome isomerase|TRP2|dopachrome delta-isomerase|dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2)|tyrosinase related protein-2|tyrosine-related protein 2 20210911 - 9606 1639 DCTN1 - DAP-150|DP-150|P135 MIM:601143|HGNC:HGNC:2711|Ensembl:ENSG00000204843 2 2p13.1 dynactin subunit 1 protein-coding DCTN1 dynactin subunit 1 O dynactin subunit 1|150 kDa dynein-associated polypeptide|dynactin 1 (p150, glued homolog, Drosophila) 20211016 - 9606 1641 DCX - DBCN|DC|LISX|SCLH|XLIS MIM:300121|HGNC:HGNC:2714|Ensembl:ENSG00000077279 X Xq23 doublecortin protein-coding DCX doublecortin O neuronal migration protein doublecortin|doublecortex|doublin|lis-X|lissencephalin-X 20210704 - 9606 1642 DDB1 - DDBA|UV-DDB1|WHIKERS|XAP1|XPCE|XPE|XPE-BF MIM:600045|HGNC:HGNC:2717|Ensembl:ENSG00000167986 11 11q12.2 damage specific DNA binding protein 1 protein-coding DDB1 damage specific DNA binding protein 1 O DNA damage-binding protein 1|DDB p127 subunit|DNA damage-binding protein a|HBV X-associated protein 1|UV-DDB 1|UV-damaged DNA-binding factor|UV-damaged DNA-binding protein 1|XAP-1|XPE-binding factor|damage-specific DNA binding protein 1, 127kDa|xeroderma pigmentosum group E-complementing protein 20211028 - 9606 1643 DDB2 - DDBB|UV-DDB2|XPE MIM:600811|HGNC:HGNC:2718|Ensembl:ENSG00000134574 11 11p11.2 damage specific DNA binding protein 2 protein-coding DDB2 damage specific DNA binding protein 2 O DNA damage-binding protein 2|DDB p48 subunit|UV-damaged DNA-binding protein 2|damage-specific DNA binding protein 2, 48kDa|xeroderma pigmentosum group E protein 20211103 - 9606 1644 DDC - AADC MIM:107930|HGNC:HGNC:2719|Ensembl:ENSG00000132437 7 7p12.2-p12.1 dopa decarboxylase protein-coding DDC dopa decarboxylase O aromatic-L-amino-acid decarboxylase|dopa decarboxylase (aromatic L-amino acid decarboxylase) 20210919 - 9606 1645 AKR1C1 - 2-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DD1/DD2|DDH|DDH1|H-37|HAKRC|HBAB|MBAB MIM:600449|HGNC:HGNC:384|Ensembl:ENSG00000187134 10 10p15.1 aldo-keto reductase family 1 member C1 protein-coding AKR1C1 aldo-keto reductase family 1 member C1 O aldo-keto reductase family 1 member C1|20 alpha-hydroxysteroid dehydrogenase|aldo-keto reductase C|chlordecone reductase homolog HAKRC|dihydrodiol dehydrogenase 1|dihydrodiol dehydrogenase 1/2|dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase|hepatic dihydrodiol dehydrogenase|high-affinity hepatic bile acid-binding protein|indanol dehydrogenase|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase|type II 3-alpha-hydroxysteroid dehydrogenase 20210911 - 9606 1646 AKR1C2 - AKR1C-pseudo|BABP|DD|DD-2|DD/BABP|DD2|DDH2|HAKRD|HBAB|MCDR2|SRXY8|TDD MIM:600450|HGNC:HGNC:385|Ensembl:ENSG00000151632 10 10p15.1 aldo-keto reductase family 1 member C2 protein-coding AKR1C2 aldo-keto reductase family 1 member C2 O aldo-keto reductase family 1 member C2|3-alpha-HSD3|chlordecone reductase homolog HAKRD|dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III|pseudo-chlordecone reductase|testicular 17,20-desmolase deficiency|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase|type II dihydrodiol dehydrogenase 20210704 - 9606 1647 GADD45A - DDIT1|GADD45 MIM:126335|HGNC:HGNC:4095|Ensembl:ENSG00000116717 1 1p31.3 growth arrest and DNA damage inducible alpha protein-coding GADD45A growth arrest and DNA damage inducible alpha O growth arrest and DNA damage-inducible protein GADD45 alpha|DDIT-1|DNA damage-inducible transcript 1 protein|DNA damage-inducible transcript-1|growth arrest and DNA-damage-inducible 45 alpha 20210912 - 9606 1648 GADD45AP1 - DDIT1L|GADD45AL HGNC:HGNC:2725 12 12q21.32 growth arrest and DNA damage inducible alpha pseudogene 1 pseudo GADD45AP1 growth arrest and DNA damage inducible alpha pseudogene 1 O - 20210611 - 9606 1649 DDIT3 - AltDDIT3|C/EBPzeta|CEBPZ|CHOP|CHOP-10|CHOP10|GADD153 MIM:126337|HGNC:HGNC:2726|Ensembl:ENSG00000175197 12 12q13.3 DNA damage inducible transcript 3 protein-coding DDIT3 DNA damage inducible transcript 3 O DNA damage-inducible transcript 3 protein|C/EBP zeta|CCAAT/enhancer-binding protein homologous protein|alternative DDIT3 protein|c/EBP-homologous protein 10|growth arrest and DNA damage-inducible protein GADD153 20210926 - 9606 1650 DDOST - AGER1|CDG1R|GATD6|OKSWcl45|OST|OST48|WBP1 MIM:602202|HGNC:HGNC:2728|Ensembl:ENSG00000244038 1 1p36.12 dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit protein-coding DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit O dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit|advanced glycation end-product receptor 1|advanced glycation endproduct receptor 1|dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)|dolichyl-diphosphooligosaccharide-protein glycotransferase|oligosaccharyl transferase 48 kDa subunit|oligosaccharyltransferase 48 kDa subunit|oligosaccharyltransferase subunit 48 20210905 - 9606 1652 DDT - D-DT|DDCT|MIF-2|MIF2 MIM:602750|HGNC:HGNC:2732|Ensembl:ENSG00000099977 22 22q11.23 D-dopachrome tautomerase protein-coding DDT D-dopachrome tautomerase O D-dopachrome decarboxylase|phenylpyruvate tautomerase II 20211029 - 9606 1653 DDX1 - DBP-RB|UKVH5d MIM:601257|HGNC:HGNC:2734|Ensembl:ENSG00000079785 2 2p24.3 DEAD-box helicase 1 protein-coding DDX1 DEAD-box helicase 1 O ATP-dependent RNA helicase DDX1|DEAD (Asp-Glu-Ala-Asp) box helicase 1|DEAD (Asp-Glu-Ala-Asp) box polypeptide 1|DEAD box polypeptide 1|DEAD box protein 1|DEAD box protein retinoblastoma|DEAD box-1|DEAD-box RNA helicase DDX1|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1|DEAD/H-box helicase 1 20210814 - 9606 1654 DDX3X - CAP-Rf|DBX|DDX14|DDX3|HLP2|MRX102|MRXSSB MIM:300160|HGNC:HGNC:2745|Ensembl:ENSG00000215301 X Xp11.4 DEAD-box helicase 3 X-linked protein-coding DDX3X DEAD-box helicase 3 X-linked O ATP-dependent RNA helicase DDX3X|DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked|DEAD box protein 3, X-chromosomal|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3|DEAD/H box-3|helicase-like protein 2 20211031 - 9606 1655 DDX5 - G17P1|HLR1|HUMP68|p68 MIM:180630|HGNC:HGNC:2746|Ensembl:ENSG00000108654 17 17q23.3 DEAD-box helicase 5 protein-coding DDX5 DEAD-box helicase 5 O probable ATP-dependent RNA helicase DDX5|ATP-dependent RNA helicase DDX5|DEAD (Asp-Glu-Ala-Asp) box helicase 5|DEAD (Asp-Glu-Ala-Asp) box polypeptide 5|DEAD box protein 5|DEAD box-5|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)|RNA helicase p68 20211028 - 9606 1656 DDX6 - HLR2|IDDILF|P54|RCK|Rck/p54 MIM:600326|HGNC:HGNC:2747|Ensembl:ENSG00000110367 11 11q23.3 DEAD-box helicase 6 protein-coding DDX6 DEAD-box helicase 6 O probable ATP-dependent RNA helicase DDX6|ATP-dependent RNA helicase p54|DEAD (Asp-Glu-Ala-Asp) box helicase 6|DEAD (Asp-Glu-Ala-Asp) box polypeptide 6|DEAD box protein 6|DEAD box-6|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)|oncogene RCK 20211026 - 9606 1657 DMXL1 - - MIM:605671|HGNC:HGNC:2937|Ensembl:ENSG00000172869 5 5q23.1 Dmx like 1 protein-coding DMXL1 Dmx like 1 O dmX-like protein 1 20211016 - 9606 1659 DHX8 - DDX8|Dhr2|HRH1|PRP22|PRPF22 MIM:600396|HGNC:HGNC:2749|Ensembl:ENSG00000067596 17 17q21.31 DEAH-box helicase 8 protein-coding DHX8 DEAH-box helicase 8 O ATP-dependent RNA helicase DHX8|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)|DEAH (Asp-Glu-Ala-His) box polypeptide 8|DEAH box protein 8|RNA helicase HRH1 20211016 - 9606 1660 DHX9 - DDX9|LKP|NDH2|NDHII|RHA MIM:603115|HGNC:HGNC:2750|Ensembl:ENSG00000135829 1 1q25.3 DExH-box helicase 9 protein-coding DHX9 DExH-box helicase 9 O ATP-dependent RNA helicase A|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9|DEAH (Asp-Glu-Ala-His) box helicase 9|DEAH (Asp-Glu-Ala-His) box polypeptide 9|DEAH box protein 9|DEAH-box helicase 9|RNA helicase A|leukophysin|nuclear DNA helicase II 20210912 - 9606 1661 DHX9P1 - DDX9P|DHX9P HGNC:HGNC:2751 13 13q22.3 DEAH-box helicase 9 pseudogene 1 pseudo DHX9P1 DEAH-box helicase 9 pseudogene 1 O DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A) pseudogene|DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene 1 20210611 - 9606 1662 DDX10 - Dbp4|HRH-J8 MIM:601235|HGNC:HGNC:2735|Ensembl:ENSG00000178105 11 11q22.3 DEAD-box helicase 10 protein-coding DDX10 DEAD-box helicase 10 O probable ATP-dependent RNA helicase DDX10|DDX10-NUP98 fusion protein type 2|DEAD (Asp-Glu-Ala-Asp) box polypeptide 10|DEAD box protein 10|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase) 20211009 - 9606 1663 DDX11 - CHL1|CHLR1|KRG2|WABS MIM:601150|HGNC:HGNC:2736|Ensembl:ENSG00000013573 12 12p11.21 DEAD/H-box helicase 11 protein-coding DDX11 DEAD/H-box helicase 11 O ATP-dependent DNA helicase DDX11|CHL1-like helicase homolog|CHL1-related helicase gene-1|CHL1-related protein 1|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)|DEAD/H box protein 11|KRG-2|hCHLR1|keratinocyte growth factor-regulated gene 2 protein|probable ATP-dependent DNA helicase DDX11|probable ATP-dependent RNA helicase DDX11 20210822 - 9606 1665 DHX15 - DBP1|DDX15|PRP43|PRPF43|PrPp43p MIM:603403|HGNC:HGNC:2738|Ensembl:ENSG00000109606 4 4p15.2 DEAH-box helicase 15 protein-coding DHX15 DEAH-box helicase 15 O pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15|ATP-dependent RNA helicase #46|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15|DEAD/H box-15|DEAH (Asp-Glu-Ala-His) box helicase 15|DEAH (Asp-Glu-Ala-His) box polypeptide 15|DEAH box protein 15|RNA helicase 2|putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15 20210919 - 9606 1666 DECR1 - DECR|NADPH|SDR18C1 MIM:222745|HGNC:HGNC:2753|Ensembl:ENSG00000104325 8 8q21.3 2,4-dienoyl-CoA reductase 1 protein-coding DECR1 2,4-dienoyl-CoA reductase 1 O 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial|2,4-dienoyl-CoA reductase 1, mitochondrial|2,4-dienoyl-CoA reductase, mitochondrial|4-enoyl-CoA reductase|short chain dehydrogenase/reductase family 18C member 1 20210822 - 9606 1667 DEFA1 - DEF1|DEFA2|HNP-1|HP-1|HP1|MRS MIM:125220|HGNC:HGNC:2761|Ensembl:ENSG00000206047 8 8p23.1 defensin alpha 1 protein-coding DEFA1 defensin alpha 1 O neutrophil defensin 1|defensin, alpha 1, myeloid-related sequence|defensin, alpha 2|myeloid-related sequence 20210708 - 9606 1668 DEFA3 - DEF3|HNP-3|HNP3|HP-3|HP3 MIM:604522|HGNC:HGNC:2762|Ensembl:ENSG00000239839 8 8p23.1 defensin alpha 3 protein-coding DEFA3 defensin alpha 3 O neutrophil defensin 3|defensin 3, neutrophil-specific|defensin, alpha 3, neutrophil-specific|neutrophil peptide 3 20210708 - 9606 1669 DEFA4 - DEF4|HNP-4|HP-4|HP4 MIM:601157|HGNC:HGNC:2763|Ensembl:ENSG00000164821 8 8p23.1 defensin alpha 4 protein-coding DEFA4 defensin alpha 4 O neutrophil defensin 4|corticostatin|defensin, alpha 4, corticostatin|defensin, alpha 4, preproprotein 20210708 - 9606 1670 DEFA5 - DEF5|HD-5 MIM:600472|HGNC:HGNC:2764|Ensembl:ENSG00000164816 8 8p23.1 defensin alpha 5 protein-coding DEFA5 defensin alpha 5 O defensin-5|HD5(20-94)|defensin, alpha 5, Paneth cell-specific|defensin, alpha 5, preproprotein 20210906 - 9606 1671 DEFA6 - DEF6|HD-6 MIM:600471|HGNC:HGNC:2765|Ensembl:ENSG00000164822 8 8p23.1 defensin alpha 6 protein-coding DEFA6 defensin alpha 6 O defensin-6|defensin, alpha 6, Paneth cell-specific 20210708 - 9606 1672 DEFB1 - BD1|DEFB-1|DEFB101|HBD1 MIM:602056|HGNC:HGNC:2766|Ensembl:ENSG00000164825 8 8p23.1 defensin beta 1 protein-coding DEFB1 defensin beta 1 O beta-defensin 1|BD-1 20211009 - 9606 1673 DEFB4A - BD-2|DEFB-2|DEFB102|DEFB2|DEFB4|HBD-2|SAP1 MIM:602215|HGNC:HGNC:2767|Ensembl:ENSG00000171711 8 8p23.1 defensin beta 4A protein-coding DEFB4A defensin beta 4A O beta-defensin 4A|beta defensin-2|defensin, beta 2|defensin, beta 4|skin-antimicrobial peptide 1 20211026 - 9606 1674 DES - CDCD3|CSM1|CSM2|LGMD1D|LGMD1E|LGMD2R MIM:125660|HGNC:HGNC:2770|Ensembl:ENSG00000175084 2 2q35 desmin protein-coding DES desmin O desmin|cardiomyopathy, dilated 1F (autosomal dominant)|epididymis secretory sperm binding protein|intermediate filament protein 20210802 - 9606 1675 CFD - ADIPSIN|ADN|DF|PFD MIM:134350|HGNC:HGNC:2771|Ensembl:ENSG00000197766 19 19p13.3 complement factor D protein-coding CFD complement factor D O complement factor D|C3 convertase activator|D component of complement (adipsin)|complement factor D preproprotein|properdin factor D 20211017 - 9606 1676 DFFA - DFF-45|DFF1|ICAD MIM:601882|HGNC:HGNC:2772|Ensembl:ENSG00000160049 1 1p36.22 DNA fragmentation factor subunit alpha protein-coding DFFA DNA fragmentation factor subunit alpha O DNA fragmentation factor subunit alpha|DFF45|DNA fragmentation factor 45 kDa subunit|DNA fragmentation factor, 45kDa, alpha polypeptide|inhibitor of CAD 20210808 - 9606 1677 DFFB - CAD|CPAN|DFF-40|DFF2|DFF40 MIM:601883|HGNC:HGNC:2773|Ensembl:ENSG00000169598 1 1p36.32 DNA fragmentation factor subunit beta protein-coding DFFB DNA fragmentation factor subunit beta O DNA fragmentation factor subunit beta|DNA fragmentation factor 40 kDa subunit|DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)|caspase-activated DNase|caspase-activated deoxyribonuclease|caspase-activated nuclease 20210912 - 9606 1678 TIMM8A - DDP|DDP1|DFN1|MTS|TIM8 MIM:300356|HGNC:HGNC:11817|Ensembl:ENSG00000126953 X Xq22.1 translocase of inner mitochondrial membrane 8A protein-coding TIMM8A translocase of inner mitochondrial membrane 8A O mitochondrial import inner membrane translocase subunit Tim8 A|X-linked deafness dystonia protein|deafness dystonia protein 1|deafness/dystonia peptide|translocase of inner mitochondrial membrane 8 homolog A 20210704 - 9606 1680 DFNX3 - DFN4 MIM:300030 X Xp21.2 deafness, X-linked 3 unknown - - - deafness 4, congenital sensorineural 20191002 - 9606 1687 GSDME - DFNA5|ICERE-1 MIM:608798|HGNC:HGNC:2810|Ensembl:ENSG00000105928 7 7p15.3 gasdermin E protein-coding GSDME gasdermin E O gasdermin-E|DFNA5, deafness associated tumor suppressor|inversely correlated with estrogen receptor expression 1|non-syndromic hearing impairment protein 5|nonsyndromic hearing impairment protein 20211026 - 9606 1689 DFNA7 - - MIM:601412 1 1q21-q23 deafness, autosomal dominant 7 unknown - - - - 20191002 - 9606 1690 COCH - COCH-5B2|COCH5B2|DFNA9|DFNB110 MIM:603196|HGNC:HGNC:2180|Ensembl:ENSG00000100473 14 14q12 cochlin protein-coding COCH cochlin O cochlin|coagulation factor C homolog, cochlin (Limulus polyphemus) 20210705 - 9606 1694 DFNA16 - - MIM:603964 2 2q24 deafness, autosomal dominant 16 unknown - - - - 20191002 - 9606 1697 DFNB5 - - MIM:600792 14 14q12 deafness, autosomal recessive 5 unknown - - - - 20191002 - 9606 1705 DFNB13 - - MIM:603098 7 7q34-q36 deafness, autosomal recessive 13 unknown - - - - 20191002 - 9606 1706 DFNB14 - - MIM:603678 7 7q31 deafness, autosomal recessive 14 unknown - - - - 20191002 - 9606 1709 DFNB17 - - MIM:603010 7 7q31 deafness, autosomal recessive 17 unknown - - - - 20191002 - 9606 1713 DFNB20 - - MIM:604060 11 11q25-qter deafness, autosomal recessive 20 unknown - - - - 20191002 - 9606 1714 DGCR - CATCH22|DGS|VCF MIM:188400|HGNC:HGNC:2844 22 22q11.21-q11.23 DiGeorge syndrome chromosome region other DGCR DiGeorge syndrome chromosome region O DiGeorge syndrome chromosome region (velocardiofacial syndrome) 20190324 - 9606 1716 DGUOK - MTDPS3|NCPH|NCPH1|PEOB4|dGK MIM:601465|HGNC:HGNC:2858|Ensembl:ENSG00000114956 2 2p13.1 deoxyguanosine kinase protein-coding DGUOK deoxyguanosine kinase O deoxyguanosine kinase, mitochondrial|deoxyadenosine kinase, mitochondrial 20210804 - 9606 1717 DHCR7 - SLOS MIM:602858|HGNC:HGNC:2860|Ensembl:ENSG00000172893 11 11q13.4 7-dehydrocholesterol reductase protein-coding DHCR7 7-dehydrocholesterol reductase O 7-dehydrocholesterol reductase|7-DHC reductase|delta-7-dehydrocholesterol reductase|delta7-sterol reductase|putative sterol reductase SR-2|sterol delta-7-reductase|sterol reductase SR-2 20210905 - 9606 1718 DHCR24 - DCE|Nbla03646|SELADIN1|seladin-1 MIM:606418|HGNC:HGNC:2859|Ensembl:ENSG00000116133 1 1p32.3 24-dehydrocholesterol reductase protein-coding DHCR24 24-dehydrocholesterol reductase O delta(24)-sterol reductase|3 beta-hydroxysterol delta 24-reductase|desmosterol-to-cholesterol enzyme|diminuto/dwarf1 homolog|seladin 1|selective AD indicator 1 20211026 - 9606 1719 DHFR - DHFRP1|DYR MIM:126060|HGNC:HGNC:2861|Ensembl:ENSG00000228716 5 5q14.1 dihydrofolate reductase protein-coding DHFR dihydrofolate reductase O dihydrofolate reductase 20210906 - 9606 1720 DHFRP3 - - HGNC:HGNC:52354 2 2p12 dihydrofolate reductase pseudogene 3 pseudo DHFRP3 dihydrofolate reductase pseudogene 3 O hDHFR-psi 3 20210724 - 9606 1723 DHODH - DHOdehase|POADS|URA1 MIM:126064|HGNC:HGNC:2867|Ensembl:ENSG00000102967 16 16q22.2 dihydroorotate dehydrogenase (quinone) protein-coding DHODH dihydroorotate dehydrogenase (quinone) O dihydroorotate dehydrogenase (quinone), mitochondrial|dihydroorotate oxidase|human complement of yeast URA1 20210822 - 9606 1725 DHPS - DHS|DS|MIG13|NEDSSWI MIM:600944|HGNC:HGNC:2869|Ensembl:ENSG00000095059 19 19p13.13 deoxyhypusine synthase protein-coding DHPS deoxyhypusine synthase O deoxyhypusine synthase|migration-inducing gene 13 20210731 - 9606 1727 CYB5R3 - B5R|DIA1 MIM:613213|HGNC:HGNC:2873|Ensembl:ENSG00000100243 22 22q13.2 cytochrome b5 reductase 3 protein-coding CYB5R3 cytochrome b5 reductase 3 O NADH-cytochrome b5 reductase 3|NADH-cytochrome b5 reductase 3 membrane-bound form|NADH-cytochrome b5 reductase 3 soluble form|diaphorase-1|mutant NADH-cytochrome b5 reductase 20210726 - 9606 1728 NQO1 - DHQU|DIA4|DTD|NMOR1|NMORI|QR1 MIM:125860|HGNC:HGNC:2874|Ensembl:ENSG00000181019 16 16q22.1 NAD(P)H quinone dehydrogenase 1 protein-coding NQO1 NAD(P)H quinone dehydrogenase 1 O NAD(P)H dehydrogenase [quinone] 1|DT-diaphorase|NAD(P)H dehydrogenase, quinone 1|NAD(P)H:Quinone acceptor oxidoreductase type 1|NAD(P)H:menadione oxidoreductase 1|NAD(P)H:quinone oxidoreductase 1|NAD(P)H:quinone oxireductase|azoreductase|diaphorase (NADH/NADPH) (cytochrome b-5 reductase)|diaphorase-4|dioxin-inducible 1|menadione reductase|phylloquinone reductase|quinone reductase 1 20211031 - 9606 1729 DIAPH1 - DFNA1|DIA1|DRF1|LFHL1|SCBMS|hDIA1|mDia1 MIM:602121|HGNC:HGNC:2876|Ensembl:ENSG00000131504 5 5q31.3 diaphanous related formin 1 protein-coding DIAPH1 diaphanous related formin 1 O protein diaphanous homolog 1|mammalian diaphanous related formin 1 20211031 - 9606 1730 DIAPH2 - DIA|DIA2|DRF2|POF|POF2|POF2A MIM:300108|HGNC:HGNC:2877|Ensembl:ENSG00000147202 X Xq21.33 diaphanous related formin 2 protein-coding DIAPH2 diaphanous related formin 2 O protein diaphanous homolog 2|Premature ovarian failure 2A|diaphanous homolog 2|diaphorase-2 20210924 - 9606 1731 SEPTIN1 - DIFF6|LARP|PNUTL3|SEP1|SEPT1 MIM:612897|HGNC:HGNC:2879|Ensembl:ENSG00000180096 16 16p11.2 septin 1 protein-coding SEPTIN1 septin 1 O septin-1|differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase)|peanut-like protein 3|serologically defined breast cancer antigen NY-BR-24 20210619 - 9606 1732 DIH1 - HCD MIM:142340 15 15q26.1-q26.2 diaphragmatic hernia 1 unknown - - - - 20191002 - 9606 1733 DIO1 - 5DI|TXDI1 MIM:147892|HGNC:HGNC:2883|Ensembl:ENSG00000211452 1 1p32.3 iodothyronine deiodinase 1 protein-coding DIO1 iodothyronine deiodinase 1 O type I iodothyronine deiodinase|DIOI|deiodinase, iodothyronine type I|iodothyronine deiodinase type 1|selenoprotein DIO1|thyroxine 5'-deiodinase|thyroxine deiodinase type I (selenoprotein)|type 1 DI|type-I 5'-deiodinase 20210708 - 9606 1734 DIO2 - 5DII|D2|DIOII|SELENOY|SelY|TXDI2 MIM:601413|HGNC:HGNC:2884|Ensembl:ENSG00000211448 14 14q31.1 iodothyronine deiodinase 2 protein-coding DIO2 iodothyronine deiodinase 2 O type II iodothyronine deiodinase|deiodinase, iodothyronine type II|deiodinase-2|deiodonase-2|selenoprotein Y|thyroxine deiodinase, type II|type 2 DI|type 2 iodothyronine deiodinase|type-II 5'-deiodinase|type-II 5'deiodinase 20211026 - 9606 1735 DIO3 - 5DIII|D3|DIOIII|TXDI3 MIM:601038|HGNC:HGNC:2885|Ensembl:ENSG00000197406 14 14q32.31 iodothyronine deiodinase 3 protein-coding DIO3 iodothyronine deiodinase 3 O thyroxine 5-deiodinase|deiodinase, iodothyronine type III|iodothyronine deiodinase, placental type|selenoprotein DIO3|thyroxine deiodinase type III (selenoprotein)|type 3 DI|type 3 iodothyronine selenodeiodinase|type-III 5' deiodinase 20211026 - 9606 1736 DKC1 - CBF5|DKC|DKCX|NAP57|NOLA4|XAP101 MIM:300126|HGNC:HGNC:2890|Ensembl:ENSG00000130826 X Xq28 dyskerin pseudouridine synthase 1 protein-coding DKC1 dyskerin pseudouridine synthase 1 O H/ACA ribonucleoprotein complex subunit DKC1|CBF5 homolog|H/ACA ribonucleoprotein complex subunit 4|dyskeratosis congenita 1, dyskerin|nopp140-associated protein of 57 kDa|nucleolar protein NAP57|nucleolar protein family A member 4|snoRNP protein DKC1 20210905 - 9606 1737 DLAT - DLTA|E2|PBC|PDC-E2|PDCE2 MIM:608770|HGNC:HGNC:2896|Ensembl:ENSG00000150768 11 11q23.1 dihydrolipoamide S-acetyltransferase protein-coding DLAT dihydrolipoamide S-acetyltransferase O dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial|70 kDa mitochondrial autoantigen of primary biliary cirrhosis|E2 component of pyruvate dehydrogenase complex|M2 antigen complex 70 kDa subunit|dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex|pyruvate dehydrogenase complex component E2 20210905 - 9606 1738 DLD - DLDD|DLDH|E3|GCSL|LAD|OGDC-E3|PHE3 MIM:238331|HGNC:HGNC:2898|Ensembl:ENSG00000091140 7 7q31.1 dihydrolipoamide dehydrogenase protein-coding DLD dihydrolipoamide dehydrogenase O dihydrolipoyl dehydrogenase, mitochondrial|E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex|diaphorase|epididymis secretory sperm binding protein|glycine cleavage system L protein|glycine cleavage system protein L|lipoamide dehydrogenase|lipoamide reductase|lipoyl dehydrogenase 20210708 - 9606 1739 DLG1 - DLGH1|SAP-97|SAP97|hdlg MIM:601014|HGNC:HGNC:2900|Ensembl:ENSG00000075711 3 3q29 discs large MAGUK scaffold protein 1 protein-coding DLG1 discs large MAGUK scaffold protein 1 O disks large homolog 1|dJ1061C18.1.1|discs large homolog 1, scribble cell polarity complex component|presynaptic protein SAP97|synapse-associated protein 97 20211028 - 9606 1740 DLG2 - PPP1R58|PSD-93|PSD93|chapsyn-110 MIM:603583|HGNC:HGNC:2901|Ensembl:ENSG00000150672 11 11q14.1 discs large MAGUK scaffold protein 2 protein-coding DLG2 discs large MAGUK scaffold protein 2 O disks large homolog 2|channel-associated protein of synapse-110|channel-associated protein of synapses, 110kDa|discs, large homolog 2, chapsyn-110|postsynaptic density protein PSD-93|protein phosphatase 1, regulatory subunit 58 20211016 - 9606 1741 DLG3 - MRX|MRX90|NEDLG|PPP1R82|SAP102|XLID90|XLMR MIM:300189|HGNC:HGNC:2902|Ensembl:ENSG00000082458 X Xq13.1 discs large MAGUK scaffold protein 3 protein-coding DLG3 discs large MAGUK scaffold protein 3 O disks large homolog 3|discs, large homolog 3|neuroendocrine-DLG|protein phosphatase 1, regulatory subunit 82|synapse-associated protein 102 20211031 - 9606 1742 DLG4 - MRD62|PSD95|SAP-90|SAP90 MIM:602887|HGNC:HGNC:2903|Ensembl:ENSG00000132535 17 17p13.1 discs large MAGUK scaffold protein 4 protein-coding DLG4 discs large MAGUK scaffold protein 4 O disks large homolog 4|Tax interaction protein 15|discs large homolog 4|post-synaptic density protein 95|synapse-associated protein 90 20210905 - 9606 1743 DLST - DLTS|KGD2|PGL7 MIM:126063|HGNC:HGNC:2911|Ensembl:ENSG00000119689 14 14q24.3 dihydrolipoamide S-succinyltransferase protein-coding DLST dihydrolipoamide S-succinyltransferase O dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial|E2K|OGDC-E2|dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 20210926 - 9606 1744 DLSTP1 - DLSTP HGNC:HGNC:2912 1 1p31.1 dihydrolipoamide S-succinyltransferase pseudogene 1 pseudo DLSTP1 dihydrolipoamide S-succinyltransferase pseudogene 1 O dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) pseudogene|dihydrolipoamide S-succinyltransferase pseudogene (E2 component of 2-oxo-glutarate complex) 20210724 - 9606 1745 DLX1 - - MIM:600029|HGNC:HGNC:2914|Ensembl:ENSG00000144355 2 2q31.1 distal-less homeobox 1 protein-coding DLX1 distal-less homeobox 1 O homeobox protein DLX-1|distal-less homeo box 1 20211017 - 9606 1746 DLX2 - TES-1|TES1 MIM:126255|HGNC:HGNC:2915|Ensembl:ENSG00000115844 2 2q31.1 distal-less homeobox 2 protein-coding DLX2 distal-less homeobox 2 O homeobox protein DLX-2|distal-less homeo box 2 20210611 - 9606 1747 DLX3 - AI4|TDO MIM:600525|HGNC:HGNC:2916|Ensembl:ENSG00000064195 17 17q21.33 distal-less homeobox 3 protein-coding DLX3 distal-less homeobox 3 O homeobox protein DLX-3 20210611 - 9606 1748 DLX4 - BP1|DLX7|DLX8|DLX9|OFC15 MIM:601911|HGNC:HGNC:2917|Ensembl:ENSG00000108813 17 17q21.33 distal-less homeobox 4 protein-coding DLX4 distal-less homeobox 4 O homeobox protein DLX-4|beta protein 1|distal-less homeo box 7|distal-less homeo box 9|homeobox protein DLX-7|homeobox protein DLX-8 20210708 - 9606 1749 DLX5 - SHFM1|SHFM1D MIM:600028|HGNC:HGNC:2918|Ensembl:ENSG00000105880 7 7q21.3 distal-less homeobox 5 protein-coding DLX5 distal-less homeobox 5 O homeobox protein DLX-5|distal-less homeo box 5|split hand/foot malformation type 1 with sensorineural hearing loss 20211003 - 9606 1750 DLX6 - - MIM:600030|HGNC:HGNC:2919|Ensembl:ENSG00000006377 7 7q21.3 distal-less homeobox 6 protein-coding DLX6 distal-less homeobox 6 O homeobox protein DLX-6|distal-less homeo box 6 20210704 - 9606 1755 DMBT1 - GP340|SAG|SALSA|muclin MIM:601969|HGNC:HGNC:2926|Ensembl:ENSG00000187908 10 10q26.13 deleted in malignant brain tumors 1 protein-coding DMBT1 deleted in malignant brain tumors 1 O deleted in malignant brain tumors 1 protein|glycoprotein 340|hensin|salivary agglutinin|salivary scavenger and agglutinin|surfactant pulmonary-associated D-binding protein|vomeroglandin 20210926 - 9606 1756 DMD - BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85 MIM:300377|HGNC:HGNC:2928|Ensembl:ENSG00000198947 X Xp21.2-p21.1 dystrophin protein-coding DMD dystrophin O dystrophin|truncated dystrophin 20211026 - 9606 1757 SARDH - BPR-2|DMGDHL1|SAR|SARD|SDH MIM:604455|HGNC:HGNC:10536|Ensembl:ENSG00000123453 9 9q34.2 sarcosine dehydrogenase protein-coding SARDH sarcosine dehydrogenase O sarcosine dehydrogenase, mitochondrial|dimethylglycine dehydrogenase-like 1 20210708 - 9606 1758 DMP1 - ARHP|ARHR|DMP-1 MIM:600980|HGNC:HGNC:2932|Ensembl:ENSG00000152592 4 4q22.1 dentin matrix acidic phosphoprotein 1 protein-coding DMP1 dentin matrix acidic phosphoprotein 1 O dentin matrix acidic phosphoprotein 1|dentin matrix protein 1 20210719 - 9606 1759 DNM1 - DEE31|DNM|EIEE31 MIM:602377|HGNC:HGNC:2972|Ensembl:ENSG00000106976 9 9q34.11 dynamin 1 protein-coding DNM1 dynamin 1 O dynamin-1 20211026 - 9606 1760 DMPK - DM|DM1|DM1PK|DMK|MDPK|MT-PK MIM:605377|HGNC:HGNC:2933|Ensembl:ENSG00000104936 19 19q13.32 DM1 protein kinase protein-coding DMPK DM1 protein kinase O myotonin-protein kinase|DM protein kinase|dystrophia myotonica protein kinase|myotonic dystrophy associated protein kinase|myotonin protein kinase A|thymopoietin homolog 20211028 - 9606 1761 DMRT1 - CT154|DMT1 MIM:602424|HGNC:HGNC:2934|Ensembl:ENSG00000137090 9 9p24.3 doublesex and mab-3 related transcription factor 1 protein-coding DMRT1 doublesex and mab-3 related transcription factor 1 O doublesex- and mab-3-related transcription factor 1|DM domain expressed in testis 1|DM domain expressed in testis protein 1 20210703 - 9606 1762 DMWD - D19S593E|DMR-N9|DMRN9|gene59 MIM:609857|HGNC:HGNC:2936|Ensembl:ENSG00000185800 19 19q13.32 DM1 locus, WD repeat containing protein-coding DMWD DM1 locus, WD repeat containing O dystrophia myotonica WD repeat-containing protein|dystrophia myotonica, WD repeat containing|dystrophia myotonica-containing WD repeat motif protein|protein 59 20210611 - 9606 1763 DNA2 - DNA2L|hDNA2 MIM:601810|HGNC:HGNC:2939|Ensembl:ENSG00000138346 10 10q21.3 DNA replication helicase/nuclease 2 protein-coding DNA2 DNA replication helicase/nuclease 2 O DNA replication ATP-dependent helicase/nuclease DNA2|DNA replication ATP-dependent helicase-like homolog|DNA replication helicase 2 homolog|DNA2 DNA replication helicase 2-like|DNA2-like helicase 20211031 - 9606 1767 DNAH5 - CILD3|DNAHC5|HL1|KTGNR|PCD MIM:603335|HGNC:HGNC:2950|Ensembl:ENSG00000039139 5 5p15.2 dynein axonemal heavy chain 5 protein-coding DNAH5 dynein axonemal heavy chain 5 O dynein axonemal heavy chain 5|dynein heavy chain 5, axonemal|axonemal beta dynein heavy chain 5|ciliary dynein heavy chain 5|dynein, axonemal, heavy polypeptide 5 20210704 - 9606 1768 DNAH6 - DNHL1|Dnahc6|HL-2|HL2 MIM:603336|HGNC:HGNC:2951|Ensembl:ENSG00000115423 2 2p11.2 dynein axonemal heavy chain 6 protein-coding DNAH6 dynein axonemal heavy chain 6 O dynein axonemal heavy chain 6|dynein heavy chain 6, axonemal|axonemal beta dynein heavy chain 6|ciliary dynein heavy chain 6|dynein heavy chain-like 1|dynein, axonemal, heavy polypeptide 6 20210905 - 9606 1769 DNAH8 - ATPase|SPGF46|hdhc9 MIM:603337|HGNC:HGNC:2952|Ensembl:ENSG00000124721 6 6p21.2 dynein axonemal heavy chain 8 protein-coding DNAH8 dynein axonemal heavy chain 8 O dynein axonemal heavy chain 8|dynein heavy chain 8, axonemal|axonemal beta dynein heavy chain 8|ciliary dynein heavy chain 8|dynein, axonemal, heavy polypeptide 8 20210719 - 9606 1770 DNAH9 - CILD40|DNAH17L|DNEL1|DYH9|Dnahc9|HL-20|HL20 MIM:603330|HGNC:HGNC:2953|Ensembl:ENSG00000007174 17 17p12 dynein axonemal heavy chain 9 protein-coding DNAH9 dynein axonemal heavy chain 9 O dynein axonemal heavy chain 9|dynein heavy chain 9, axonemal|DNAH9 variant protein|axonemal beta dynein heavy chain 9|ciliary dynein heavy chain 9|dynein, axonemal, heavy polypeptide 9 20211031 - 9606 1773 DNASE1 - DNL1|DRNI MIM:125505|HGNC:HGNC:2956|Ensembl:ENSG00000213918 16 16p13.3 deoxyribonuclease 1 protein-coding DNASE1 deoxyribonuclease 1 O deoxyribonuclease-1|DNase I, lysosomal|Dornase alfa|deoxyribonuclease I|human urine deoxyribonuclease I 20210912 - 9606 1774 DNASE1L1 - DNAS1L1|DNASEX|DNL1L|G4.8|XIB MIM:300081|HGNC:HGNC:2957|Ensembl:ENSG00000013563 X Xq28 deoxyribonuclease 1 like 1 protein-coding DNASE1L1 deoxyribonuclease 1 like 1 O deoxyribonuclease-1-like 1|DNase I, lysosomal-like|DNase I-like 1|DNase I-like, muscle-specific|deoxyribonuclease I-like 1 20210708 - 9606 1775 DNASE1L2 - DNAS1L2 MIM:602622|HGNC:HGNC:2958|Ensembl:ENSG00000167968 16 16p13.3 deoxyribonuclease 1 like 2 protein-coding DNASE1L2 deoxyribonuclease 1 like 2 O deoxyribonuclease-1-like 2|DNase I homolog protein DHP1|DNase I-like 2|deoxyribonuclease I like 2 20211026 - 9606 1776 DNASE1L3 - DHP2|DNAS1L3|LSD|SLEB16 MIM:602244|HGNC:HGNC:2959|Ensembl:ENSG00000163687 3 3p14.3 deoxyribonuclease 1 like 3 protein-coding DNASE1L3 deoxyribonuclease 1 like 3 O deoxyribonuclease gamma|DNase I homolog protein 2|DNase I homolog protein DHP2|DNase I-like 3|DNase gamma|LS-DNase|Liver and spleen DNase|deoxyribonuclease I-like 3|deoxyribonuclease I-like III 20211017 - 9606 1777 DNASE2 - DNASE2A|DNL|DNL2 MIM:126350|HGNC:HGNC:2960|Ensembl:ENSG00000105612 19 19p13.13 deoxyribonuclease 2, lysosomal protein-coding DNASE2 deoxyribonuclease 2, lysosomal O deoxyribonuclease-2-alpha|DNase II alpha|DNase II, lysosomal|R31240_2|acid DNase|deoxyribonuclease II alpha|deoxyribonuclease II, lysosomal|lysosomal DNase II 20210611 - 9606 1778 DYNC1H1 - CMT2O|DHC1|DHC1a|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|SMALED1|p22 MIM:600112|HGNC:HGNC:2961|Ensembl:ENSG00000197102 14 14q32.31 dynein cytoplasmic 1 heavy chain 1 protein-coding DYNC1H1 dynein cytoplasmic 1 heavy chain 1 O cytoplasmic dynein 1 heavy chain 1|dynein heavy chain, cytosolic|dynein, cytoplasmic, heavy polypeptide 1 20210905 - 9606 1780 DYNC1I1 - DNCI1|DNCIC1 MIM:603772|HGNC:HGNC:2963|Ensembl:ENSG00000158560 7 7q21.3 dynein cytoplasmic 1 intermediate chain 1 protein-coding DYNC1I1 dynein cytoplasmic 1 intermediate chain 1 O cytoplasmic dynein 1 intermediate chain 1|DH IC-1|cytoplasmic dynein intermediate chain 1|dynein intermediate chain 1, cytosolic|dynein, cytoplasmic, intermediate polypeptide 1 20210708 - 9606 1781 DYNC1I2 - DIC74|DNCI2|IC2|NEDMIBA MIM:603331|HGNC:HGNC:2964|Ensembl:ENSG00000077380 2 2q31.1 dynein cytoplasmic 1 intermediate chain 2 protein-coding DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 O cytoplasmic dynein 1 intermediate chain 2|DH IC-2|dynein intermediate chain 2, cytosolic|dynein, cytoplasmic, intermediate polypeptide 2|testis tissue sperm-binding protein Li 66n 20210808 - 9606 1783 DYNC1LI2 - DNCLI2|LIC2 MIM:611406|HGNC:HGNC:2966|Ensembl:ENSG00000135720 16 16q22.1 dynein cytoplasmic 1 light intermediate chain 2 protein-coding DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 O cytoplasmic dynein 1 light intermediate chain 2|LIC-2|LIC53/55|dynein light intermediate chain 2, cytosolic|dynein, cytoplasmic, light intermediate polypeptide 2 20210906 - 9606 1784 DNCM - cmDNA MIM:126330 9 9q12 DNA associated with cytoplasmic membrane other - - - Cytoplasmic membrane DNA 20170408 - 9606 1785 DNM2 - CMT2M|CMTDI1|CMTDIB|DI-CMTB|DYN2|DYNII|LCCS5 MIM:602378|HGNC:HGNC:2974|Ensembl:ENSG00000079805 19 19p13.2 dynamin 2 protein-coding DNM2 dynamin 2 O dynamin-2|dynamin II 20210905 - 9606 1786 DNMT1 - ADCADN|AIM|CXXC9|DNMT|HSN1E|MCMT|m.HsaI MIM:126375|HGNC:HGNC:2976|Ensembl:ENSG00000130816 19 19p13.2 DNA methyltransferase 1 protein-coding DNMT1 DNA methyltransferase 1 O DNA (cytosine-5)-methyltransferase 1|CXXC-type zinc finger protein 9|DNA (cytosine-5-)-methyltransferase 1|DNA MTase HsaI|DNA methyltransferase HsaI 20211028 - 9606 1787 TRDMT1 - DMNT2|DNMT2|MHSAIIP|PUMET|RNMT1 MIM:602478|HGNC:HGNC:2977|Ensembl:ENSG00000107614 10 10p13 tRNA aspartic acid methyltransferase 1 protein-coding TRDMT1 tRNA aspartic acid methyltransferase 1 O tRNA (cytosine(38)-C(5))-methyltransferase|DNA (cytosine-5)-methyltransferase-like protein 2|DNA MTase homolog HsaIIP|DNA cytosine-5 methyltransferase 2|DNA methyltransferase-2|tRNA (cytosine-5-)-methyltransferase 20210906 - 9606 1788 DNMT3A - DNMT3A2|HESJAS|M.HsaIIIA|TBRS MIM:602769|HGNC:HGNC:2978|Ensembl:ENSG00000119772 2 2p23.3 DNA methyltransferase 3 alpha protein-coding DNMT3A DNA methyltransferase 3 alpha O DNA (cytosine-5)-methyltransferase 3A|DNA (cytosine-5-)-methyltransferase 3 alpha|DNA MTase HsaIIIA|DNA cytosine methyltransferase 3A2|cysteine methyltransferase DNMT3A 20211026 - 9606 1789 DNMT3B - FSHD4|ICF|ICF1|M.HsaIIIB MIM:602900|HGNC:HGNC:2979|Ensembl:ENSG00000088305 20 20q11.21 DNA methyltransferase 3 beta protein-coding DNMT3B DNA methyltransferase 3 beta O DNA (cytosine-5)-methyltransferase 3B|DNA (cytosine-5-)-methyltransferase 3 beta|DNA MTase HsaIIIB|DNA cytosine-5--methyltransferase 3 beta|DNA methyltransferase HsaIIIB 20211106 - 9606 1791 DNTT - TDT MIM:187410|HGNC:HGNC:2983|Ensembl:ENSG00000107447 10 10q24.1 DNA nucleotidylexotransferase protein-coding DNTT DNA nucleotidylexotransferase O DNA nucleotidylexotransferase|nucleosidetriphosphate:DNA deoxynucleotidylexotransferase|terminal addition enzyme|terminal deoxynucleotidyltransferase|terminal deoxyribonucleotidyltransferase|terminal transferase 20210611 - 9606 1793 DOCK1 - DOCK180|ced5 MIM:601403|HGNC:HGNC:2987|Ensembl:ENSG00000150760 10 10q26.2 dedicator of cytokinesis 1 protein-coding DOCK1 dedicator of cytokinesis 1 O dedicator of cytokinesis protein 1|180 kDa protein downstream of CRK|DOwnstream of CrK 20210906 - 9606 1794 DOCK2 - IMD40 MIM:603122|HGNC:HGNC:2988|Ensembl:ENSG00000134516 5 5q35.1 dedicator of cytokinesis 2 protein-coding DOCK2 dedicator of cytokinesis 2 O dedicator of cytokinesis protein 2|dedicator of cyto-kinesis 2 20210808 - 9606 1795 DOCK3 - MOCA|NEDIDHA|PBP MIM:603123|HGNC:HGNC:2989|Ensembl:ENSG00000088538 3 3p21.2 dedicator of cytokinesis 3 protein-coding DOCK3 dedicator of cytokinesis 3 O dedicator of cytokinesis protein 3|modifier of cell adhesion|presenilin-binding protein 20210906 - 9606 1796 DOK1 - P62DOK|pp62 MIM:602919|HGNC:HGNC:2990|Ensembl:ENSG00000115325 2 2p13.1 docking protein 1 protein-coding DOK1 docking protein 1 O docking protein 1|Downstream of tyrosine kinase 1 20210708 - 9606 1797 DXO - DOM3L|DOM3Z|NG6|RAI1 MIM:605996|HGNC:HGNC:2992|Ensembl:ENSG00000204348 6 6p21.33 decapping exoribonuclease protein-coding DXO decapping exoribonuclease O decapping and exoribonuclease protein|5'-3' exoribonuclease DXO|NAD-capped RNA hydrolase DXO|deNADding enzyme DXO|protein Dom3Z 20210905 - 9606 1798 DPAGT1 - ALG7|CDG-Ij|CDG1J|CMS13|CMSTA2|D11S366|DGPT|DPAGT|DPAGT2|G1PT|GPT|UAGT|UGAT MIM:191350|HGNC:HGNC:2995|Ensembl:ENSG00000172269 11 11q23.3 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 protein-coding DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 O UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase|GlcNAc-1-P transferase 1|N-acetylglucosamine-1-phosphate transferase|UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase|UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1|dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P tra|dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)|dolichyl-phosphate alpha-N-acetylglucosaminyltransferase 20211028 - 9606 1800 DPEP1 - MBD1|MDP|RDP MIM:179780|HGNC:HGNC:3002|Ensembl:ENSG00000015413 16 16q24.3 dipeptidase 1 protein-coding DPEP1 dipeptidase 1 O dipeptidase 1|beta-lactamase|dehydropeptidase-I|dipeptidase 1 (renal)|hRDP|microsomal dipeptidase|renal dipeptidase|testicular tissue protein Li 57 20210906 - 9606 1801 DPH1 - DEDSSH|DPH2L|DPH2L1|OVCA1 MIM:603527|HGNC:HGNC:3003|Ensembl:ENSG00000108963 17 17p13.3 diphthamide biosynthesis 1 protein-coding DPH1 diphthamide biosynthesis 1 O 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1|DPH-like 1|DPH1 homolog|DPH2-like 1|S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1|candidate tumor suppressor in ovarian cancer 1|diphthamide biosynthesis protein 1|diphthamide biosynthesis protein 2 homolog-like 1|diphtheria toxin resistance protein 1|diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1|ovarian cancer-associated gene 1 protein|ovarian tumor suppressor candidate 1 20210906 - 9606 1802 DPH2 - DPH2L2 MIM:603456|HGNC:HGNC:3004|Ensembl:ENSG00000132768 1 1p34.1 diphthamide biosynthesis 2 protein-coding DPH2 diphthamide biosynthesis 2 O 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2|DPH2 homolog|DPH2-like 2|S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2|diphthamide biosynthesis protein 2 homolog-like 2|diphthamide biosynthesis-like protein 2|diphtheria toxin resistance protein 2|diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 20210611 - 9606 1803 DPP4 - ADABP|ADCP2|CD26|DPPIV|TP103 MIM:102720|HGNC:HGNC:3009|Ensembl:ENSG00000197635 2 2q24.2 dipeptidyl peptidase 4 protein-coding DPP4 dipeptidyl peptidase 4 O dipeptidyl peptidase 4|ADCP-2|DPP IV|Gly-Pro naphthylamidase|Post-proline dipeptidyl aminopeptidase IV|T-cell activation antigen CD26|Xaa-Pro-dipeptidylaminopeptidase|adenosine deaminase complexing protein 2|dipeptidyl peptidase IV|dipeptidylpeptidase 4|dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2) 20211017 - 9606 1804 DPP6 - DPL1|DPPX|MRD33|VF2 MIM:126141|HGNC:HGNC:3010|Ensembl:ENSG00000130226 7 7q36.2 dipeptidyl peptidase like 6 protein-coding DPP6 dipeptidyl peptidase like 6 O dipeptidyl aminopeptidase-like protein 6|DPP VI|dipeptidyl aminopeptidase IV-related protein|dipeptidyl peptidase IV-related protein|dipeptidyl peptidase VI|dipeptidyl-peptidase 6 20210906 - 9606 1805 DPT - TRAMP MIM:125597|HGNC:HGNC:3011|Ensembl:ENSG00000143196 1 1q24.2 dermatopontin protein-coding DPT dermatopontin O dermatopontin|tyrosine-rich acidic matrix protein 20210611 - 9606 1806 DPYD - DHP|DHPDHASE|DPD MIM:612779|HGNC:HGNC:3012|Ensembl:ENSG00000188641 1 1p21.3 dihydropyrimidine dehydrogenase protein-coding DPYD dihydropyrimidine dehydrogenase O dihydropyrimidine dehydrogenase [NADP(+)]|dihydrothymine dehydrogenase|dihydrouracil dehydrogenase 20211031 - 9606 1807 DPYS - DHP|DHPase MIM:613326|HGNC:HGNC:3013|Ensembl:ENSG00000147647 8 8q22.3 dihydropyrimidinase protein-coding DPYS dihydropyrimidinase O dihydropyrimidinase|dihydropyrimidine amidohydrolase|hydantoinase 20210708 - 9606 1808 DPYSL2 - CRMP-2|CRMP2|DHPRP2|DRP-2|DRP2|N2A3|ULIP-2|ULIP2 MIM:602463|HGNC:HGNC:3014|Ensembl:ENSG00000092964 8 8p21.2 dihydropyrimidinase like 2 protein-coding DPYSL2 dihydropyrimidinase like 2 O dihydropyrimidinase-related protein 2|collapsin response mediator protein hCRMP-2|unc-33-like phosphoprotein 2 20210905 - 9606 1809 DPYSL3 - CRMP-4|CRMP4|DRP-3|DRP3|LCRMP|ULIP|ULIP-1 MIM:601168|HGNC:HGNC:3015|Ensembl:ENSG00000113657 5 5q32 dihydropyrimidinase like 3 protein-coding DPYSL3 dihydropyrimidinase like 3 O dihydropyrimidinase-related protein 3|collapsin response mediator protein 4 long|testicular secretory protein Li 7|unc-33-like phosphoprotein 1 20211017 - 9606 1810 DR1 - NC2|NC2-BETA|NC2B|NCB2 MIM:601482|HGNC:HGNC:3017|Ensembl:ENSG00000117505 1 1p22.1 down-regulator of transcription 1 protein-coding DR1 down-regulator of transcription 1 O protein Dr1|TATA-binding protein-associated phosphoprotein|negative cofactor 2|negative cofactor 2-beta 20210822 - 9606 1811 SLC26A3 - CLD|DRA MIM:126650|HGNC:HGNC:3018|Ensembl:ENSG00000091138 7 7q22.3-q31.1 solute carrier family 26 member 3 protein-coding SLC26A3 solute carrier family 26 member 3 O chloride anion exchanger|down-regulated in adenoma protein|solute carrier family 26 (anion exchanger), member 3 20210809 - 9606 1812 DRD1 - DADR|DRD1A MIM:126449|HGNC:HGNC:3020|Ensembl:ENSG00000184845 5 5q35.2 dopamine receptor D1 protein-coding DRD1 dopamine receptor D1 O D(1A) dopamine receptor|dopamine D1 receptor 20211031 - 9606 1813 DRD2 - D2DR|D2R MIM:126450|HGNC:HGNC:3023|Ensembl:ENSG00000149295 11 11q23.2 dopamine receptor D2 protein-coding DRD2 dopamine receptor D2 O D(2) dopamine receptor|dopamine D2 receptor|seven transmembrane helix receptor 20211031 - 9606 1814 DRD3 - D3DR|ETM1|FET1 MIM:126451|HGNC:HGNC:3024|Ensembl:ENSG00000151577 3 3q13.31 dopamine receptor D3 protein-coding DRD3 dopamine receptor D3 O D(3) dopamine receptor|essential tremor 1 20211017 - 9606 1815 DRD4 - D4DR MIM:126452|HGNC:HGNC:3025|Ensembl:ENSG00000069696 11 11p15.5 dopamine receptor D4 protein-coding DRD4 dopamine receptor D4 O D(4) dopamine receptor|D(2C) dopamine receptor|dopamine D4 receptor|seven transmembrane helix receptor 20211026 - 9606 1816 DRD5 - DBDR|DRD1B|DRD1L2 MIM:126453|HGNC:HGNC:3026|Ensembl:ENSG00000169676 4 4p16.1 dopamine receptor D5 protein-coding DRD5 dopamine receptor D5 O D(1B) dopamine receptor|D1beta dopamine receptor|d(5) dopamine receptor|dopamine D5 receptor|dopamine receptor D1B 20210708 - 9606 1817 DRD5P1 - - HGNC:HGNC:3027 2 2p11.2 dopamine receptor D5 pseudogene 1 pseudo DRD5P1 dopamine receptor D5 pseudogene 1 O - 20210724 - 9606 1818 DRD5P2 - - HGNC:HGNC:3028 1 1q21.1 dopamine receptor D5 pseudogene 2 pseudo DRD5P2 dopamine receptor D5 pseudogene 2 O psi DRD5-2|seven transmembrane helix receptor 20210724 - 9606 1819 DRG2 - - MIM:602986|HGNC:HGNC:3030|Ensembl:ENSG00000108591 17 17p11.2 developmentally regulated GTP binding protein 2 protein-coding DRG2 developmentally regulated GTP binding protein 2 O developmentally-regulated GTP-binding protein 2|TRAFAC GTPase DRG2|translation factor GTPase DRG2 20210611 - 9606 1820 ARID3A - BRIGHT|DRIL1|DRIL3|E2FBP1 MIM:603265|HGNC:HGNC:3031|Ensembl:ENSG00000116017 19 19p13.3 AT-rich interaction domain 3A protein-coding ARID3A AT-rich interaction domain 3A O AT-rich interactive domain-containing protein 3A|ARID domain-containing 3A|ARID domain-containing protein 3A|AT rich interactive domain 3A (BRIGHT- like) protein|AT rich interactive domain 3A (BRIGHT-like)|B-cell regulator of IgH transcription|E2F-binding protein 1|dead ringer-like 1|dead ringer-like protein 1 20211003 - 9606 1821 DRP2 - DRP-2 MIM:300052|HGNC:HGNC:3032|Ensembl:ENSG00000102385 X Xq22.1 dystrophin related protein 2 protein-coding DRP2 dystrophin related protein 2 O dystrophin-related protein 2 20210611 - 9606 1822 ATN1 - B37|CHEDDA|D12S755E|DRPLA|HRS|NOD MIM:607462|HGNC:HGNC:3033|Ensembl:ENSG00000111676 12 12p13.31 atrophin 1 protein-coding ATN1 atrophin 1 O atrophin-1|dentatorubral-pallidoluysian atrophy protein 20210905 - 9606 1823 DSC1 - CDHF1|DG2/DG3 MIM:125643|HGNC:HGNC:3035|Ensembl:ENSG00000134765 18 18q12.1 desmocollin 1 protein-coding DSC1 desmocollin 1 O desmocollin-1|cadherin family member 1|desmosomal glycoprotein 2/3 20210919 - 9606 1824 DSC2 - ARVD11|CDHF2|DG2|DGII/III|DSC3 MIM:125645|HGNC:HGNC:3036|Ensembl:ENSG00000134755 18 18q12.1 desmocollin 2 protein-coding DSC2 desmocollin 2 O desmocollin-2|cadherin family member 2|desmosomal glycoprotein II/III 20210919 - 9606 1825 DSC3 - CDHF3|DSC|DSC1|DSC2|DSC4|HT-CP MIM:600271|HGNC:HGNC:3037|Ensembl:ENSG00000134762 18 18q12.1 desmocollin 3 protein-coding DSC3 desmocollin 3 O desmocollin-3|cadherin family member 3|desmocollin-4 20210708 - 9606 1826 DSCAM - CHD2|CHD2-42|CHD2-52 MIM:602523|HGNC:HGNC:3039|Ensembl:ENSG00000171587 21 21q22.2 DS cell adhesion molecule protein-coding DSCAM DS cell adhesion molecule O Down syndrome cell adhesion molecule 20211017 - 9606 1827 RCAN1 - ADAPT78|CSP1|DSC1|DSCR1|MCIP1|RCN1 MIM:602917|HGNC:HGNC:3040|Ensembl:ENSG00000159200 21 21q22.12 regulator of calcineurin 1 protein-coding RCAN1 regulator of calcineurin 1 O calcipressin-1|Down syndrome candidate region 1|Down syndrome critical region gene 1|calcium and oxidant-inducible mRNA|modulatory calcineurin-interacting protein 1|myocyte-enriched calcineurin-interacting protein 1|near DSCR proline-rich protein 20211009 - 9606 1828 DSG1 - CDHF4|DG1|DSG|EPKHE|EPKHIA|PPKS1|SPPK1 MIM:125670|HGNC:HGNC:3048|Ensembl:ENSG00000134760 18 18q12.1 desmoglein 1 protein-coding DSG1 desmoglein 1 O desmoglein-1|cadherin family member 4|desmosomal glycoprotein 1|pemphigus foliaceus antigen 20210809 - 9606 1829 DSG2 - CDHF5|HDGC MIM:125671|HGNC:HGNC:3049|Ensembl:ENSG00000046604 18 18q12.1 desmoglein 2 protein-coding DSG2 desmoglein 2 O desmoglein-2|cadherin family member 5 20211003 - 9606 1830 DSG3 - ABOLM|CDHF6|PVA MIM:169615|HGNC:HGNC:3050|Ensembl:ENSG00000134757 18 18q12.1 desmoglein 3 protein-coding DSG3 desmoglein 3 O desmoglein-3|130 kDa pemphigus vulgaris antigen|cadherin family member 6 20210708 - 9606 1831 TSC22D3 - DIP|DSIPI|GILZ|TSC-22R MIM:300506|HGNC:HGNC:3051|Ensembl:ENSG00000157514 X Xq22.3 TSC22 domain family member 3 protein-coding TSC22D3 TSC22 domain family member 3 O TSC22 domain family protein 3|DSIP-immunoreactive leucine zipper protein|DSIP-immunoreactive peptide|TSC-22 related protein|TSC-22-like protein|delta sleep-inducing peptide immunoreactor|glucocorticoid-induced leucine zipper protein 20211017 - 9606 1832 DSP - DCWHKTA|DP MIM:125647|HGNC:HGNC:3052|Ensembl:ENSG00000096696 6 6p24.3 desmoplakin protein-coding DSP desmoplakin O desmoplakin|250/210 kDa paraneoplastic pemphigus antigen 20211031 - 9606 1833 EPYC - DSPG3|PGLB|Pg-Lb|SLRR3B MIM:601657|HGNC:HGNC:3053|Ensembl:ENSG00000083782 12 12q21.33 epiphycan protein-coding EPYC epiphycan O epiphycan|dermatan sulfate proteoglycan 3|epiphycan proteoglycan|proteoglycan-lb|small chondroitin/dermatan sulfate proteoglycan 20210611 - 9606 1834 DSPP - DFNA39|DGI1|DMP3|DPP|DSP MIM:125485|HGNC:HGNC:3054|Ensembl:ENSG00000152591 4 4q22.1 dentin sialophosphoprotein protein-coding DSPP dentin sialophosphoprotein O dentin sialophosphoprotein|deafness, autosomal dominant 39|dentin phosphophoryn|dentin phosphoprotein|dentin phosphoryn|dentin sialoprotein 20210708 - 9606 1836 SLC26A2 - D5S1708|DTD|DTDST|EDM4|MST153|MSTP157 MIM:606718|HGNC:HGNC:10994|Ensembl:ENSG00000155850 5 5q32 solute carrier family 26 member 2 protein-coding SLC26A2 solute carrier family 26 member 2 O sulfate transporter|diastrophic dysplasia protein|solute carrier family 26 (anion exchanger), member 2|solute carrier family 26 (sulfate transporter), member 2|sulfate anion transporter 1 20210708 - 9606 1837 DTNA - D18S892E|DRP3|DTN|DTN-A|LVNC1 MIM:601239|HGNC:HGNC:3057|Ensembl:ENSG00000134769 18 18q12.1 dystrobrevin alpha protein-coding DTNA dystrobrevin alpha O dystrobrevin alpha|dystrophin-related protein 3 20210724 - 9606 1838 DTNB - - MIM:602415|HGNC:HGNC:3058|Ensembl:ENSG00000138101 2 2p23.3 dystrobrevin beta protein-coding DTNB dystrobrevin beta O dystrobrevin beta|DTN-B|beta-dystrobrevin 20211016 - 9606 1839 HBEGF - DTR|DTS|DTSF|HEGFL MIM:126150|HGNC:HGNC:3059|Ensembl:ENSG00000113070 5 5q31.3 heparin binding EGF like growth factor protein-coding HBEGF heparin binding EGF like growth factor O proheparin-binding EGF-like growth factor|diphtheria toxin receptor (heparin-binding EGF-like growth factor)|diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)|heparin-binding epidermal growth factor 20211003 - 9606 1840 DTX1 - RNF140|hDx-1 MIM:602582|HGNC:HGNC:3060|Ensembl:ENSG00000135144 12 12q24.13 deltex E3 ubiquitin ligase 1 protein-coding DTX1 deltex E3 ubiquitin ligase 1 O E3 ubiquitin-protein ligase DTX1|RING-type E3 ubiquitin transferase DTX1|deltex 1, E3 ubiquitin ligase|deltex homolog 1|protein deltex-1 20210708 - 9606 1841 DTYMK - CDC8|PP3731|TMPK|TYMK MIM:188345|HGNC:HGNC:3061|Ensembl:ENSG00000168393 2 2q37.3 deoxythymidylate kinase protein-coding DTYMK deoxythymidylate kinase O thymidylate kinase|dTMP kinase|deoxythymidylate kinase (thymidylate kinase) 20211028 - 9606 1842 ECM2 - - MIM:603479|HGNC:HGNC:3154|Ensembl:ENSG00000106823 9 9q22.31 extracellular matrix protein 2 protein-coding ECM2 extracellular matrix protein 2 O extracellular matrix protein 2|extracellular matrix protein 2, female organ and adipocyte specific|matrix glycoprotein SC1/ECM2 20211009 - 9606 1843 DUSP1 - CL100|HVH1|MKP-1|MKP1|PTPN10 MIM:600714|HGNC:HGNC:3064|Ensembl:ENSG00000120129 5 5q35.1 dual specificity phosphatase 1 protein-coding DUSP1 dual specificity phosphatase 1 O dual specificity protein phosphatase 1|CL 100|MAP kinase phosphatase 1|dual specificity protein phosphatase hVH1|mitogen-activated protein kinase phosphatase 1|protein-tyrosine phosphatase CL100|serine/threonine specific protein phosphatase 20210906 - 9606 1844 DUSP2 - PAC-1|PAC1 MIM:603068|HGNC:HGNC:3068|Ensembl:ENSG00000158050 2 2q11.2 dual specificity phosphatase 2 protein-coding DUSP2 dual specificity phosphatase 2 O dual specificity protein phosphatase 2|dual specificity protein phosphatase PAC-1|serine/threonine specific protein phosphatase 20210822 - 9606 1845 DUSP3 - VHR MIM:600183|HGNC:HGNC:3069|Ensembl:ENSG00000108861 17 17q21.31 dual specificity phosphatase 3 protein-coding DUSP3 dual specificity phosphatase 3 O dual specificity protein phosphatase 3|dual specificity protein phosphatase VHR|serine/threonine specific protein phosphatase|vaccinia H1-related phosphatase|vaccinia virus phosphatase VH1-related 20210906 - 9606 1846 DUSP4 - HVH2|MKP-2|MKP2|TYP MIM:602747|HGNC:HGNC:3070|Ensembl:ENSG00000120875 8 8p12 dual specificity phosphatase 4 protein-coding DUSP4 dual specificity phosphatase 4 O dual specificity protein phosphatase 4|MAP kinase phosphatase 2|VH1 homologous phosphatase 2|dual specificity protein phosphatase hVH2|mitogen-activated protein kinase phosphatase 2|serine/threonine specific protein phosphatase 20211031 - 9606 1847 DUSP5 - DUSP|HVH3 MIM:603069|HGNC:HGNC:3071|Ensembl:ENSG00000138166 10 10q25.2 dual specificity phosphatase 5 protein-coding DUSP5 dual specificity phosphatase 5 O dual specificity protein phosphatase 5|VH1-like phosphatase 3|dual specificity protein phosphatase hVH3|serine/threonine specific protein phosphatase 20211026 - 9606 1848 DUSP6 - HH19|MKP3|PYST1 MIM:602748|HGNC:HGNC:3072|Ensembl:ENSG00000139318 12 12q21.33 dual specificity phosphatase 6 protein-coding DUSP6 dual specificity phosphatase 6 O dual specificity protein phosphatase 6|MAP kinase phosphatase 3|dual specificity protein phosphatase PYST1|mitogen-activated protein kinase phosphatase 3|serine/threonine specific protein phosphatase 20211009 - 9606 1849 DUSP7 - MKPX|PYST2 MIM:602749|HGNC:HGNC:3073|Ensembl:ENSG00000164086 3 3p21.2 dual specificity phosphatase 7 protein-coding DUSP7 dual specificity phosphatase 7 O dual specificity protein phosphatase 7|dual specificity protein phosphatase PYST2 20210822 - 9606 1850 DUSP8 - C11orf81|HB5|HVH-5|HVH8 MIM:602038|HGNC:HGNC:3074|Ensembl:ENSG00000184545 11 11p15.5 dual specificity phosphatase 8 protein-coding DUSP8 dual specificity phosphatase 8 O dual specificity protein phosphatase 8|H1 phosphatase, vaccinia virus homolog|dual specificity protein phosphatase hVH-5|serine/threonine specific protein phosphatase 20210822 - 9606 1852 DUSP9 - MKP-4|MKP4 MIM:300134|HGNC:HGNC:3076|Ensembl:ENSG00000130829 X Xq28 dual specificity phosphatase 9 protein-coding DUSP9 dual specificity phosphatase 9 O dual specificity protein phosphatase 9|map kinase phosphatase 4|mitogen-activated protein kinase phosphatase 4|serine/threonine specific protein phosphatase 20210822 - 9606 1854 DUT - dUTPase MIM:601266|HGNC:HGNC:3078|Ensembl:ENSG00000128951 15 15q21.1 deoxyuridine triphosphatase protein-coding DUT deoxyuridine triphosphatase O deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial|dUTP diphosphatase|dUTP nucleotidohydrolase|dUTP pyrophosphatase 20210708 - 9606 1855 DVL1 - DRS2|DVL|DVL1L1|DVL1P1 MIM:601365|HGNC:HGNC:3084|Ensembl:ENSG00000107404 1 1p36.33 dishevelled segment polarity protein 1 protein-coding DVL1 dishevelled segment polarity protein 1 O segment polarity protein dishevelled homolog DVL-1|DSH homolog 1|dishevelled 1 (homologous to Drosophila dsh)|dishevelled, dsh homolog 1|dishevelled-1 20211028 - 9606 1856 DVL2 - - MIM:602151|HGNC:HGNC:3086|Ensembl:ENSG00000004975 17 17p13.1 dishevelled segment polarity protein 2 protein-coding DVL2 dishevelled segment polarity protein 2 O segment polarity protein dishevelled homolog DVL-2|dishevelled 2 (homologous to Drosophila dsh)|dishevelled, dsh homolog 2 20211017 - 9606 1857 DVL3 - DRS3 MIM:601368|HGNC:HGNC:3087|Ensembl:ENSG00000161202 3 3q27.1 dishevelled segment polarity protein 3 protein-coding DVL3 dishevelled segment polarity protein 3 O segment polarity protein dishevelled homolog DVL-3|dishevelled 3 (homologous to Drosophila dsh)|dishevelled, dsh homolog 3 20211028 - 9606 1858 DWS - C3DELq22q24|DEL3q22q24 MIM:220200 3 3q22-q24 dandy-walker syndrome unknown - - - - 20191002 - 9606 1859 DYRK1A - DYRK|DYRK1|HP86|MNB|MNBH|MRD7 MIM:600855|HGNC:HGNC:3091|Ensembl:ENSG00000157540 21 21q22.13 dual specificity tyrosine phosphorylation regulated kinase 1A protein-coding DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A O dual specificity tyrosine-phosphorylation-regulated kinase 1A|MNB/DYRK protein kinase|dual specificity YAK1-related kinase|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A|mnb protein kinase homolog hp86|protein kinase minibrain homolog|serine/threonine kinase MNB|serine/threonine-specific protein kinase 20211028 - 9606 1861 TOR1A - AMC5|DQ2|DYT1 MIM:605204|HGNC:HGNC:3098|Ensembl:ENSG00000136827 9 9q34.11 torsin family 1 member A protein-coding TOR1A torsin family 1 member A O torsin-1A|dystonia 1 protein|dystonia 1, torsion (autosomal dominant; torsin A)|torsin A|torsin ATPase 1|torsin ATPase-1A 20211017 - 9606 1866 DYT7 - - MIM:602124 18 18p dystonia 7, torsion (autosomal dominant) unknown - - - Dystonia-7 (torsion dystonia, adult-onset, focal) 20191002 - 9606 1867 DYX1 - RD MIM:127700 15 - dyslexia susceptibility 1 unknown - - - - 20200625 - 9606 1869 E2F1 - E2F-1|RBAP1|RBBP3|RBP3 MIM:189971|HGNC:HGNC:3113|Ensembl:ENSG00000101412 20 20q11.22 E2F transcription factor 1 protein-coding E2F1 E2F transcription factor 1 O transcription factor E2F1|PBR3|PRB-binding protein E2F-1|RBAP-1|RBBP-3|retinoblastoma-associated protein 1|retinoblastoma-binding protein 3 20211026 - 9606 1870 E2F2 - E2F-2 MIM:600426|HGNC:HGNC:3114|Ensembl:ENSG00000007968 1 1p36.12 E2F transcription factor 2 protein-coding E2F2 E2F transcription factor 2 O transcription factor E2F2 20211016 - 9606 1871 E2F3 - E2F-3 MIM:600427|HGNC:HGNC:3115|Ensembl:ENSG00000112242 6 6p22.3 E2F transcription factor 3 protein-coding E2F3 E2F transcription factor 3 O transcription factor E2F3 20211031 - 9606 1872 E2F3P1 - - HGNC:HGNC:3116 17 17q12 E2F transcription factor 3 pseudogene 1 pseudo E2F3P1 E2F transcription factor 3 pseudogene 1 O - 20210611 - 9606 1874 E2F4 - E2F-4 MIM:600659|HGNC:HGNC:3118|Ensembl:ENSG00000205250 16 16q22.1 E2F transcription factor 4 protein-coding E2F4 E2F transcription factor 4 O transcription factor E2F4|E2F transcription factor 4, p107/p130-binding|p107/p130-binding protein 20211026 - 9606 1875 E2F5 - E2F-5 MIM:600967|HGNC:HGNC:3119|Ensembl:ENSG00000133740 8 8q21.2 E2F transcription factor 5 protein-coding E2F5 E2F transcription factor 5 O transcription factor E2F5|E2F transcription factor 5, p130-binding 20210906 - 9606 1876 E2F6 - E2F-6 MIM:602944|HGNC:HGNC:3120|Ensembl:ENSG00000169016 2 2p25.1 E2F transcription factor 6 protein-coding E2F6 E2F transcription factor 6 O transcription factor E2F6 20210708 - 9606 1877 E4F1 - E4F MIM:603022|HGNC:HGNC:3121|Ensembl:ENSG00000167967 16 16p13.3 E4F transcription factor 1 protein-coding E4F1 E4F transcription factor 1 O transcription factor E4F1|RING-type E3 ubiquitin transferase E4F1|p120E4F|p50E4F|putative E3 ubiquitin-protein ligase E4F1|transcription factor E4F 20210912 - 9606 1878 E11S - - MIM:129150 19 19q13.1-q13.3 ECHO virus (serotypes 4, 6, 11, 19) sensitivity unknown - - - - 20191002 - 9606 1879 EBF1 - COE1|EBF|O/E-1|OLF1 MIM:164343|HGNC:HGNC:3126|Ensembl:ENSG00000164330 5 5q33.3 EBF transcription factor 1 protein-coding EBF1 EBF transcription factor 1 O transcription factor COE1|Collier, Olf and EBF transcription factor 1|early B cell factor 1|olfactory neuronal transcription factor 1 20211003 - 9606 1880 GPR183 - EBI2|hEBI2 MIM:605741|HGNC:HGNC:3128|Ensembl:ENSG00000169508 13 13q32.3 G protein-coupled receptor 183 protein-coding GPR183 G protein-coupled receptor 183 O G-protein coupled receptor 183|EBV-induced G-protein coupled receptor 2|Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)|epstein-Barr virus-induced G-protein coupled receptor 2 20210926 - 9606 1881 EBM - - MIM:302000 X Xq27.3-qter epidermolysis bullosa, macular type unknown - - - - 20200624 - 9606 1884 EBR3 - ULG4 MIM:226500 - - epidermolysis bullosa 3, progressiva unknown - - - - 20191002 - 9606 1888 EBVS1 - - MIM:132850|HGNC:HGNC:3143 1 1p35 Epstein Barr virus integration site 1 other EBVS1 Epstein Barr virus integration site 1 O Epstein Barr virus insertion site 1|Epstein-Barr virus integration site 20190324 - 9606 1889 ECE1 - ECE MIM:600423|HGNC:HGNC:3146|Ensembl:ENSG00000117298 1 1p36.12 endothelin converting enzyme 1 protein-coding ECE1 endothelin converting enzyme 1 O endothelin-converting enzyme 1|ECE-1 20210708 - 9606 1890 TYMP - ECGF|ECGF1|MEDPS1|MNGIE|MTDPS1|PDECGF|TP|hPD-ECGF MIM:131222|HGNC:HGNC:3148|Ensembl:ENSG00000025708 22 22q13.33 thymidine phosphorylase protein-coding TYMP thymidine phosphorylase O thymidine phosphorylase|gliostatin|tdRPase 20210807 - 9606 1891 ECH1 - HPXEL MIM:600696|HGNC:HGNC:3149|Ensembl:ENSG00000104823 19 19q13.2 enoyl-CoA hydratase 1 protein-coding ECH1 enoyl-CoA hydratase 1 O delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial|delta3,5-delta2,4-dienoyl-CoA isomerase|delta3,5-delta2,4-dienoyl-coenzyme A isomerase|dienoyl-CoA isomerase|enoyl Coenzyme A hydratase 1, peroxisomal|enoyl-CoA hydratase 1, peroxisomal|epididymis secretory sperm binding protein|peroxisomal enoyl-CoA hydratase 1 20210905 - 9606 1892 ECHS1 - ECHS1D|SCEH MIM:602292|HGNC:HGNC:3151|Ensembl:ENSG00000127884 10 10q26.3 enoyl-CoA hydratase, short chain 1 protein-coding ECHS1 enoyl-CoA hydratase, short chain 1 O enoyl-CoA hydratase, mitochondrial|enoyl Coenzyme A hydratase, short chain, 1, mitochondrial|enoyl-CoA hydratase, short chain, 1, mitochondrial|epididymis secretory sperm binding protein|short chain enoyl-CoA hydratase 20210905 - 9606 1893 ECM1 - URBWD MIM:602201|HGNC:HGNC:3153|Ensembl:ENSG00000143369 1 1q21.2 extracellular matrix protein 1 protein-coding ECM1 extracellular matrix protein 1 O extracellular matrix protein 1|secretory component p85|testicular tissue protein Li 61 20210919 - 9606 1894 ECT2 - ARHGEF31 MIM:600586|HGNC:HGNC:3155|Ensembl:ENSG00000114346 3 3q26.31 epithelial cell transforming 2 protein-coding ECT2 epithelial cell transforming 2 O protein ECT2|epithelial cell-transforming sequence 2 oncogene 20211016 - 9606 1896 EDA - ECTD1|ED1|ED1-A1|ED1-A2|EDA-A1|EDA-A2|EDA1|EDA2|HED|HED1|ODT1|STHAGX1|TNLG7C|XHED|XLHED MIM:300451|HGNC:HGNC:3157|Ensembl:ENSG00000158813 X Xq13.1 ectodysplasin A protein-coding EDA ectodysplasin A O ectodysplasin-A|X-linked anhidroitic ectodermal dysplasia protein|oligodontia 1|tumor necrosis factor ligand 7C 20210905 - 9606 1901 S1PR1 - CD363|CHEDG1|D1S3362|ECGF1|EDG-1|EDG1|S1P1 MIM:601974|HGNC:HGNC:3165|Ensembl:ENSG00000170989 1 1p21.2 sphingosine-1-phosphate receptor 1 protein-coding S1PR1 sphingosine-1-phosphate receptor 1 O sphingosine 1-phosphate receptor 1|S1P receptor 1|S1P receptor Edg-1|endothelial differentiation G-protein coupled receptor 1|endothelial differentiation, sphingolipid G-protein-coupled receptor, 1|sphingosine 1-phosphate receptor EDG1|sphingosine 1-phosphate receptor Edg-1 20210809 - 9606 1902 LPAR1 - EDG2|Gpcr26|LPA1|Mrec1.3|VZG1|edg-2|rec.1.3|vzg-1 MIM:602282|HGNC:HGNC:3166|Ensembl:ENSG00000198121 9 9q31.3 lysophosphatidic acid receptor 1 protein-coding LPAR1 lysophosphatidic acid receptor 1 O lysophosphatidic acid receptor 1|LPA receptor 1|LPA-1|endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2|lysophosphatidic acid receptor Edg-2|ventricular zone gene 1 20211026 - 9606 1903 S1PR3 - C9orf108|C9orf47|EDG-3|EDG3|LPB3|S1P3|bA791O21.3 MIM:601965|HGNC:HGNC:3167|Ensembl:ENSG00000213694 9 9q22.1 sphingosine-1-phosphate receptor 3 protein-coding S1PR3 sphingosine-1-phosphate receptor 3 O sphingosine 1-phosphate receptor 3|G protein-coupled receptor, endothelial differentiation gene-3|S1P receptor 3|S1P receptor EDG3|S1P receptor Edg-3|endothelial differentiation G-protein coupled receptor 3|endothelial differentiation, sphingolipid G-protein-coupled receptor, 3|sphingosine 1-phosphate receptor Edg-3|uncharacterized protein C9orf47 20211017 - 9606 1906 EDN1 - ARCND3|ET1|HDLCQ7|PPET1|QME MIM:131240|HGNC:HGNC:3176|Ensembl:ENSG00000078401 6 6p24.1 endothelin 1 protein-coding EDN1 endothelin 1 O endothelin-1|preproendothelin-1 20211031 - 9606 1907 EDN2 - ET-2|ET2|PPET2 MIM:131241|HGNC:HGNC:3177|Ensembl:ENSG00000127129 1 1p34.2 endothelin 2 protein-coding EDN2 endothelin 2 O endothelin-2|preproendothelin 2 20210912 - 9606 1908 EDN3 - ET-3|ET3|HSCR4|PPET3|WS4B MIM:131242|HGNC:HGNC:3178|Ensembl:ENSG00000124205 20 20q13.32 endothelin 3 protein-coding EDN3 endothelin 3 O endothelin-3|preproendothelin-3 20210821 - 9606 1909 EDNRA - ET-A|ETA|ETA-R|ETAR|ETRA|MFDA|hET-AR MIM:131243|HGNC:HGNC:3179|Ensembl:ENSG00000151617 4 4q31.22-q31.23 endothelin receptor type A protein-coding EDNRA endothelin receptor type A O endothelin-1 receptor|G protein-coupled receptor|endothelin receptor subtype A|endothelin-1-specific receptor 20211030 - 9606 1910 EDNRB - ABCDS|ET-B|ET-BR|ETB|ETB1|ETBR|ETRB|HSCR|HSCR2|WS4A MIM:131244|HGNC:HGNC:3180|Ensembl:ENSG00000136160 13 13q22.3 endothelin receptor type B protein-coding EDNRB endothelin receptor type B O endothelin receptor type B|Hirschsprung disease 2|endothelin receptor non-selective type|endothelin receptor subtype B1 20210809 - 9606 1911 PHC1 - EDR1|HPH1|MCPH11|RAE28 MIM:602978|HGNC:HGNC:3182|Ensembl:ENSG00000111752 12 12p13.31 polyhomeotic homolog 1 protein-coding PHC1 polyhomeotic homolog 1 O polyhomeotic-like protein 1|early development regulator 1 (homolog of polyhomeotic 1)|early development regulatory protein 1|polyhomeotic-like 1 20210708 - 9606 1912 PHC2 - EDR2|HPH2|PH2 MIM:602979|HGNC:HGNC:3183|Ensembl:ENSG00000134686 1 1p35.1 polyhomeotic homolog 2 protein-coding PHC2 polyhomeotic homolog 2 O polyhomeotic-like protein 2|early development regulator 2 (homolog of polyhomeotic 2)|early development regulatory protein 2|polyhomeotic 2|polyhomeotic-like 2 20210905 - 9606 1913 EEC1 - EEC MIM:129900 7 7q11.2-q21.3 ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 unknown - - - Ectrodactyly, ectodermal dysplasia, cleft lip/palate, 1 20191002 - 9606 1914 EEC2 - - - 19 - ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2 unknown - - - - 20200625 - 9606 1915 EEF1A1 - CCS-3|CCS3|EE1A1|EEF-1|EEF1A|EF-Tu|EF1A|EF1A1|EF1alpha1|GRAF-1EF|LENG7|PTI1|eEF1A-1 MIM:130590|HGNC:HGNC:3189|Ensembl:ENSG00000156508 6 6q13 eukaryotic translation elongation factor 1 alpha 1 protein-coding EEF1A1 eukaryotic translation elongation factor 1 alpha 1 O elongation factor 1-alpha 1|CTCL tumor antigen|EF-1-alpha-1|EF1a-like protein|cervical cancer suppressor 3|elongation factor 1 alpha subunit|elongation factor Tu|epididymis secretory sperm binding protein|eukaryotic elongation factor 1 A-1|eukaryotic translation elongation factor 1 alpha 1-like 14|glucocorticoid receptor AF-1 specific elongation factor|leukocyte receptor cluster (LRC) member 7|leukocyte receptor cluster member 7|prostate tumor-inducing protein 1|translation elongation factor 1 alpha 1-like 14 20210930 - 9606 1917 EEF1A2 - DEE33|EEF1AL|EF-1-alpha-2|EF1A|EIEE33|HS1|MRD38|STN|STNL MIM:602959|HGNC:HGNC:3192|Ensembl:ENSG00000101210 20 20q13.33 eukaryotic translation elongation factor 1 alpha 2 protein-coding EEF1A2 eukaryotic translation elongation factor 1 alpha 2 O elongation factor 1-alpha 2|eukaryotic elongation factor 1 A-2|statin-S1 20211003 - 9606 1918 EEF1A1P43 - EEF1A3 HGNC:HGNC:3193 17 17p11.2 eukaryotic translation elongation factor 1 alpha 1 pseudogene 43 pseudo EEF1A1P43 eukaryotic translation elongation factor 1 alpha 1 pseudogene 43 O eukaryotic translation elongation factor 1 alpha 3 20210611 - 9606 1932 EEF1B2P1 - EEF1B1|EF1B HGNC:HGNC:3207 15 15q21.2 eukaryotic translation elongation factor 1 beta 2 pseudogene 1 pseudo EEF1B2P1 eukaryotic translation elongation factor 1 beta 2 pseudogene 1 O eukaryotic translation elongation factor 1 beta 1 20211019 - 9606 1933 EEF1B2 - EEF1B|EEF1B1|EF1B MIM:600655|HGNC:HGNC:3208|Ensembl:ENSG00000114942 2 2q33.3 eukaryotic translation elongation factor 1 beta 2 protein-coding EEF1B2 eukaryotic translation elongation factor 1 beta 2 O elongation factor 1-beta|EF-1-beta|eukaryotic translation elongation factor 1 beta 1 20210905 - 9606 1934 EEF1B2P2 - BETA-3|EEF-1|EEF-1BETA5A|EEF1B|EEF1B3 HGNC:HGNC:3209|Ensembl:ENSG00000213864 5 5q13.1 eukaryotic translation elongation factor 1 beta 2 pseudogene 2 pseudo EEF1B2P2 eukaryotic translation elongation factor 1 beta 2 pseudogene 2 O eukaryotic translation elongation factor 1 beta 3 20210611 - 9606 1936 EEF1D - EF-1D|EF1D|FP1047 MIM:130592|HGNC:HGNC:3211|Ensembl:ENSG00000104529 8 8q24.3 eukaryotic translation elongation factor 1 delta protein-coding EEF1D eukaryotic translation elongation factor 1 delta O elongation factor 1-delta|EF-1-delta|antigen NY-CO-4|eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 20211009 - 9606 1937 EEF1G - EF1G|GIG35 MIM:130593|HGNC:HGNC:3213|Ensembl:ENSG00000254772 11 11q12.3 eukaryotic translation elongation factor 1 gamma protein-coding EEF1G eukaryotic translation elongation factor 1 gamma O elongation factor 1-gamma|EF-1-gamma|PRO1608|eEF-1B gamma|pancreatic tumor-related protein|translation elongation factor eEF-1 gamma chain 20210905 - 9606 1938 EEF2 - EEF-2|EF-2|EF2|SCA26 MIM:130610|HGNC:HGNC:3214|Ensembl:ENSG00000167658 19 19p13.3 eukaryotic translation elongation factor 2 protein-coding EEF2 eukaryotic translation elongation factor 2 O elongation factor 2|epididymis secretory sperm binding protein|polypeptidyl-tRNA translocase 20210926 - 9606 1939 EIF2D - HCA56|LGTN MIM:613709|HGNC:HGNC:6583|Ensembl:ENSG00000143486 1 1q32.1 eukaryotic translation initiation factor 2D protein-coding EIF2D eukaryotic translation initiation factor 2D O eukaryotic translation initiation factor 2D|hepatocellular carcinoma-associated antigen 56|ligatin 20210814 - 9606 1940 EEGV1 - EEGL MIM:130180 20 20q electro-encephalographic variant pattern 1 unknown - - - - 20191002 - 9606 1942 EFNA1 - B61|ECKLG|EFL1|EPLG1|GMAN|LERK-1|LERK1|TNFAIP4 MIM:191164|HGNC:HGNC:3221|Ensembl:ENSG00000169242 1 1q22 ephrin A1 protein-coding EFNA1 ephrin A1 O ephrin-A1|TNF alpha-induced protein 4|eph-related receptor tyrosine kinase ligand 1|epididymis secretory sperm binding protein|gastric cancer metastasis associated long noncoding RNA|immediate early response protein B61|ligand of eph-related kinase 1|tumor necrosis factor, alpha-induced protein 4 20210708 - 9606 1943 EFNA2 - ELF-1|EPLG6|HEK7-L|LERK-6|LERK6 MIM:602756|HGNC:HGNC:3222|Ensembl:ENSG00000099617 19 19p13.3 ephrin A2 protein-coding EFNA2 ephrin A2 O ephrin-A2|HEK7 ligand|eph-related receptor tyrosine kinase ligand 6 20210708 - 9606 1944 EFNA3 - EFL2|EPLG3|Ehk1-L|LERK3 MIM:601381|HGNC:HGNC:3223|Ensembl:ENSG00000143590 1 1q21.3 ephrin A3 protein-coding EFNA3 ephrin A3 O ephrin-A3|EFL-2|EHK1 ligand|LERK-3|eph-related receptor tyrosine kinase ligand 3|ligand of eph-related kinase 3 20210708 - 9606 1945 EFNA4 - EFL4|EPLG4|LERK4 MIM:601380|HGNC:HGNC:3224|Ensembl:ENSG00000243364 1 1q21.3 ephrin A4 protein-coding EFNA4 ephrin A4 O ephrin-A4|LERK-4|eph-related receptor tyrosine kinase ligand 4|ligand of eph-related kinase 4 20210816 - 9606 1946 EFNA5 - AF1|EFL5|EPLG7|GLC1M|LERK7|RAGS MIM:601535|HGNC:HGNC:3225|Ensembl:ENSG00000184349 5 5q21.3 ephrin A5 protein-coding EFNA5 ephrin A5 O ephrin-A5|AL-1|LERK-7|eph-related receptor tyrosine kinase ligand 7 20210809 - 9606 1947 EFNB1 - CFND|CFNS|EFB1|EFL3|EPLG2|Elk-L|LERK2 MIM:300035|HGNC:HGNC:3226|Ensembl:ENSG00000090776 X Xq13.1 ephrin B1 protein-coding EFNB1 ephrin B1 O ephrin-B1|ELK ligand|eph-related receptor tyrosine kinase ligand 2 20210809 - 9606 1948 EFNB2 - EPLG5|HTKL|Htk-L|LERK5 MIM:600527|HGNC:HGNC:3227|Ensembl:ENSG00000125266 13 13q33.3 ephrin B2 protein-coding EFNB2 ephrin B2 O ephrin-B2|HTK ligand|eph-related receptor tyrosine kinase ligand 5|ligand of eph-related kinase 5 20210808 - 9606 1949 EFNB3 - EFL6|EPLG8|LERK8 MIM:602297|HGNC:HGNC:3228|Ensembl:ENSG00000108947 17 17p13.1 ephrin B3 protein-coding EFNB3 ephrin B3 O ephrin-B3|EPH-related receptor transmembrane ligand ELK-L3|eph-related receptor tyrosine kinase ligand 8 20210708 - 9606 1950 EGF - HOMG4|URG MIM:131530|HGNC:HGNC:3229|Ensembl:ENSG00000138798 4 4q25 epidermal growth factor protein-coding EGF epidermal growth factor O pro-epidermal growth factor|beta-urogastrone 20211031 - 9606 1951 CELSR3 - ADGRC3|CDHF11|EGFL1|FMI1|HFMI1|MEGF2|RESDA1 MIM:604264|HGNC:HGNC:3230|Ensembl:ENSG00000008300 3 3p21.31 cadherin EGF LAG seven-pass G-type receptor 3 protein-coding CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 O cadherin EGF LAG seven-pass G-type receptor 3|EGF-like protein 1|EGF-like-domain, multiple 1|adhesion G protein-coupled receptor C3|anchor protein|cadherin family member 11|cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila)|epidermal growth factor-like protein 1|flamingo homolog 1|multiple EGF-like domains protein 2|multiple epidermal growth factor-like domains protein 2 20210926 - 9606 1952 CELSR2 - ADGRC2|CDHF10|EGFL2|Flamingo1|MEGF3 MIM:604265|HGNC:HGNC:3231|Ensembl:ENSG00000143126 1 1p13.3 cadherin EGF LAG seven-pass G-type receptor 2 protein-coding CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 O cadherin EGF LAG seven-pass G-type receptor 2|EGF-like protein 2|EGF-like-domain, multiple 2|adhesion G protein-coupled receptor C2|cadherin family member 10|cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila)|epidermal growth factor-like 2|epidermal growth factor-like protein 2|flamingo homolog 3|multiple EGF-like domains protein 3|multiple epidermal growth factor-like domains 3|multiple epidermal growth factor-like domains protein 3 20211031 - 9606 1953 MEGF6 - EGFL3 MIM:604266|HGNC:HGNC:3232|Ensembl:ENSG00000162591 1 1p36.32 multiple EGF like domains 6 protein-coding MEGF6 multiple EGF like domains 6 O multiple epidermal growth factor-like domains protein 6|EGF-like protein 3|EGF-like-domain, multiple 3|epidermal growth factor-like protein 3|multiple EGF-like domains protein 6 20210905 - 9606 1954 MEGF8 - C19orf49|CRPT2|EGFL4|SBP1 MIM:604267|HGNC:HGNC:3233|Ensembl:ENSG00000105429 19 19q13.2 multiple EGF like domains 8 protein-coding MEGF8 multiple EGF like domains 8 O multiple epidermal growth factor-like domains protein 8|EGF-like domain-containing protein 4|EGF-like-domain, multiple 4|HBV pre-S2-binding protein 1|HBV pre-s2 binding protein 1|epidermal growth factor-like protein 4|hepatitis B virus pre-S2-binding protein 1 20210905 - 9606 1955 MEGF9 - EGFL5 MIM:604268|HGNC:HGNC:3234|Ensembl:ENSG00000106780 9 9q33.2 multiple EGF like domains 9 protein-coding MEGF9 multiple EGF like domains 9 O multiple epidermal growth factor-like domains protein 9|EGF-like-domain, multiple 5|epidermal growth factor-like protein 5 20210611 - 9606 1956 EGFR - ERBB|ERBB1|ERRP|HER1|NISBD2|PIG61|mENA MIM:131550|HGNC:HGNC:3236|Ensembl:ENSG00000146648 7 7p11.2 epidermal growth factor receptor protein-coding EGFR epidermal growth factor receptor O epidermal growth factor receptor|EGFR vIII|avian erythroblastic leukemia viral (v-erb-b) oncogene homolog|cell growth inhibiting protein 40|cell proliferation-inducing protein 61|epidermal growth factor receptor tyrosine kinase domain|erb-b2 receptor tyrosine kinase 1|proto-oncogene c-ErbB-1|receptor tyrosine-protein kinase erbB-1 20211031 - 9606 1957 EGI - EIG|EIG1 MIM:600669 8 8q24 epilepsy, generalized, idiopathic unknown - - - epilepsy, idiopathic generalized, susceptibility to 1 20191002 - 9606 1958 EGR1 - AT225|G0S30|KROX-24|NGFI-A|TIS8|ZIF-268|ZNF225 MIM:128990|HGNC:HGNC:3238|Ensembl:ENSG00000120738 5 5q31.2 early growth response 1 protein-coding EGR1 early growth response 1 O early growth response protein 1|EGR-1|nerve growth factor-induced protein A|transcription factor ETR103|transcription factor Zif268|zinc finger gene 225|zinc finger protein 225|zinc finger protein Krox-24 20211031 - 9606 1959 EGR2 - AT591|CHN1|CMT1D|CMT4E|KROX20 MIM:129010|HGNC:HGNC:3239|Ensembl:ENSG00000122877 10 10q21.3 early growth response 2 protein-coding EGR2 early growth response 2 O E3 SUMO-protein ligase EGR2|E3 SUMO-protein transferase ERG2|KROX-20, Drosophila, homolog (early growth response-2)|early growth response protein 2|zinc finger protein Krox-20 20211017 - 9606 1960 EGR3 - EGR-3|PILOT MIM:602419|HGNC:HGNC:3240|Ensembl:ENSG00000179388 8 8p21.3 early growth response 3 protein-coding EGR3 early growth response 3 O early growth response protein 3|zinc finger protein pilot 20210906 - 9606 1961 EGR4 - AT133|NGFI-C|NGFIC|PAT133 MIM:128992|HGNC:HGNC:3241|Ensembl:ENSG00000135625 2 2p13.2 early growth response 4 protein-coding EGR4 early growth response 4 O early growth response protein 4 20210611 - 9606 1962 EHHADH - ECHD|FRTS3|L-PBE|LBFP|LBP|MFE1|PBFE MIM:607037|HGNC:HGNC:3247|Ensembl:ENSG00000113790 3 3q27.2 enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase protein-coding EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase O peroxisomal bifunctional enzyme|3,2-trans-enoyl-CoA isomerase|L-3-hydroxyacyl-CoA dehydrogenase|L-bifunctional protein, peroxisomal|PBE|enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase|enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase|multifunctional enzyme 1|peroxisomal enoyl-CoA hydratase 20210708 - 9606 1964 EIF1AX - EIF1A|EIF1AP1|EIF4C|eIF-1A|eIF-4C MIM:300186|HGNC:HGNC:3250|Ensembl:ENSG00000173674 X Xp22.12 eukaryotic translation initiation factor 1A X-linked protein-coding EIF1AX eukaryotic translation initiation factor 1A X-linked O eukaryotic translation initiation factor 1A, X-chromosomal|Putative eukaryotic translation initiation factor 1A|eukaryotic translation initiation factor 1A, X chromosome|eukaryotic translation initiation factor 4C 20211031 - 9606 1965 EIF2S1 - EIF-2|EIF-2A|EIF-2alpha|EIF2|EIF2A MIM:603907|HGNC:HGNC:3265|Ensembl:ENSG00000134001 14 14q23.3 eukaryotic translation initiation factor 2 subunit alpha protein-coding EIF2S1 eukaryotic translation initiation factor 2 subunit alpha O eukaryotic translation initiation factor 2 subunit 1|eIF-2-alpha|eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 20210905 - 9606 1967 EIF2B1 - EIF2B|EIF2BA MIM:606686|HGNC:HGNC:3257|Ensembl:ENSG00000111361 12 12q24.31 eukaryotic translation initiation factor 2B subunit alpha protein-coding EIF2B1 eukaryotic translation initiation factor 2B subunit alpha O translation initiation factor eIF-2B subunit alpha|eIF-2B GDP-GTP exchange factor subunit alpha|eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 20210731 - 9606 1968 EIF2S3 - EIF2|EIF2G|EIF2gamma|MEHMO|MRXSBRK|eIF-2gA MIM:300161|HGNC:HGNC:3267|Ensembl:ENSG00000130741 X Xp22.11 eukaryotic translation initiation factor 2 subunit gamma protein-coding EIF2S3 eukaryotic translation initiation factor 2 subunit gamma O eukaryotic translation initiation factor 2 subunit 3|eIF-2-gamma X|eIF-2gX|eukaryotic translation initiation factor 2 subunit gamma X|eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa|eukaryotic translation initiation factor 2G 20211028 - 9606 1969 EPHA2 - ARCC2|CTPA|CTPP1|CTRCT6|ECK MIM:176946|HGNC:HGNC:3386|Ensembl:ENSG00000142627 1 1p36.13 EPH receptor A2 protein-coding EPHA2 EPH receptor A2 O ephrin type-A receptor 2|epithelial cell receptor protein tyrosine kinase|soluble EPHA2 variant 1|tyrosine-protein kinase receptor ECK 20211026 - 9606 1973 EIF4A1 - DDX2A|EIF-4A|EIF4A|eIF-4A-I|eIF4A-I MIM:602641|HGNC:HGNC:3282|Ensembl:ENSG00000161960 17 17p13.1 eukaryotic translation initiation factor 4A1 protein-coding EIF4A1 eukaryotic translation initiation factor 4A1 O eukaryotic initiation factor 4A-I|ATP-dependent RNA helicase eIF4A-1|eukaryotic initiation factor 4AI|eukaryotic translation initiation factor 4A 20210919 - 9606 1974 EIF4A2 - BM-010|DDX2B|EIF4A|EIF4F|eIF-4A-II|eIF4A-II MIM:601102|HGNC:HGNC:3284|Ensembl:ENSG00000156976 3 3q27.3 eukaryotic translation initiation factor 4A2 protein-coding EIF4A2 eukaryotic translation initiation factor 4A2 O eukaryotic initiation factor 4A-II|ATP-dependent RNA helicase eIF4A-2 20210708 - 9606 1975 EIF4B - EIF-4B|PRO1843 MIM:603928|HGNC:HGNC:3285|Ensembl:ENSG00000063046 12 12q13.13 eukaryotic translation initiation factor 4B protein-coding EIF4B eukaryotic translation initiation factor 4B O eukaryotic translation initiation factor 4B 20210905 - 9606 1977 EIF4E - AUTS19|CBP|EIF4E1|EIF4EL1|EIF4F|eIF-4E MIM:133440|HGNC:HGNC:3287|Ensembl:ENSG00000151247 4 4q23 eukaryotic translation initiation factor 4E protein-coding EIF4E eukaryotic translation initiation factor 4E O eukaryotic translation initiation factor 4E|eIF-4F 25 kDa subunit|eukaryotic translation initiation factor 4E-like 1|mRNA cap-binding protein 20211031 - 9606 1978 EIF4EBP1 - 4E-BP1|4EBP1|BP-1|PHAS-I MIM:602223|HGNC:HGNC:3288|Ensembl:ENSG00000187840 8 8p11.23 eukaryotic translation initiation factor 4E binding protein 1 protein-coding EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 O eukaryotic translation initiation factor 4E-binding protein 1|eIF4E-binding protein 1|phosphorylated heat- and acid-stable protein regulated by insulin 1 20211017 - 9606 1979 EIF4EBP2 - 4EBP2|PHASII MIM:602224|HGNC:HGNC:3289|Ensembl:ENSG00000148730 10 10q22.1 eukaryotic translation initiation factor 4E binding protein 2 protein-coding EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 O eukaryotic translation initiation factor 4E-binding protein 2|4E-BP2|eIF4E-binding protein 2|phosphorylated, heat and acid stable regulated by insulin protein II 20210611 - 9606 1980 EIF4EP1 - EIF4EL2|dJ1022P6.3 HGNC:HGNC:3292 20 20p12.3 eukaryotic translation initiation factor 4E pseudogene 1 pseudo EIF4EP1 eukaryotic translation initiation factor 4E pseudogene 1 O eukaryotic translation initiation factor 4E-like 2 20210611 - 9606 1981 EIF4G1 - EIF-4G1|EIF4F|EIF4G|EIF4GI|P220|PARK18 MIM:600495|HGNC:HGNC:3296|Ensembl:ENSG00000114867 3 3q27.1 eukaryotic translation initiation factor 4 gamma 1 protein-coding EIF4G1 eukaryotic translation initiation factor 4 gamma 1 O eukaryotic translation initiation factor 4 gamma 1|EIF4-gamma|eIF-4-gamma 1|eucaryotic translation initiation factor 4G 20210926 - 9606 1982 EIF4G2 - AAG1|DAP5|NAT1|P97 MIM:602325|HGNC:HGNC:3297|Ensembl:ENSG00000110321 11 11p15.4 eukaryotic translation initiation factor 4 gamma 2 protein-coding EIF4G2 eukaryotic translation initiation factor 4 gamma 2 O eukaryotic translation initiation factor 4 gamma 2|DAP-5|aging-associated protein 1|death-associated protein 5|eIF-4-gamma 2|eIF-4G 2|eIF4G 2|eukaryotic translation initiation factor 4G-like 1 20210912 - 9606 1983 EIF5 - EIF-5|EIF-5A MIM:601710|HGNC:HGNC:3299|Ensembl:ENSG00000100664 14 14q32.32 eukaryotic translation initiation factor 5 protein-coding EIF5 eukaryotic translation initiation factor 5 O eukaryotic translation initiation factor 5 20210905 - 9606 1984 EIF5A - EIF-5A|EIF5A1|FABAS|eIF-4D|eIF5AI MIM:600187|HGNC:HGNC:3300|Ensembl:ENSG00000132507 17 17p13.1 eukaryotic translation initiation factor 5A protein-coding EIF5A eukaryotic translation initiation factor 5A O eukaryotic translation initiation factor 5A-1|eukaryotic initiation factor 5A|rev-binding factor 20210905 - 9606 1986 EIF5AP2 - - HGNC:HGNC:3303|Ensembl:ENSG00000267679 17 17q25.3 eukaryotic translation initiation factor 5A pseudogene 2 pseudo EIF5AP2 eukaryotic translation initiation factor 5A pseudogene 2 O - 20210611 - 9606 1987 EIF5AP3 - - HGNC:HGNC:3304 19 19q13.32 eukaryotic translation initiation factor 5A pseudogene 3 pseudo EIF5AP3 eukaryotic translation initiation factor 5A pseudogene 3 O - 20210611 - 9606 1990 CELA1 - ELA1 MIM:130120|HGNC:HGNC:3308|Ensembl:ENSG00000139610 12 12q13.13 chymotrypsin like elastase 1 protein-coding CELA1 chymotrypsin like elastase 1 O chymotrypsin-like elastase family member 1|chymotrypsin like elastase family member 1|elastase 1, pancreatic|elastase-1|pancreatic elastase 1 20210704 - 9606 1991 ELANE - ELA2|GE|HLE|HNE|NE|PMN-E|SCN1 MIM:130130|HGNC:HGNC:3309|Ensembl:ENSG00000197561 19 19p13.3 elastase, neutrophil expressed protein-coding ELANE elastase, neutrophil expressed O neutrophil elastase|PMN elastase|bone marrow serine protease|elastase 2, neutrophil|elastase-2|granulocyte-derived elastase|leukocyte elastase|medullasin|polymorphonuclear elastase|polymorphonuclear leukocyte elastase 20211026 - 9606 1992 SERPINB1 - EI|ELANH2|HEL-S-27|HEL57|LEI|M/NEI|MNEI|PI-2|PI2 MIM:130135|HGNC:HGNC:3311|Ensembl:ENSG00000021355 6 6p25.2 serpin family B member 1 protein-coding SERPINB1 serpin family B member 1 O leukocyte elastase inhibitor|epididymis luminal protein 57|epididymis secretory protein Li 27|peptidase inhibitor 2|protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1|serpin peptidase inhibitor, clade B (ovalbumin), member 1 20210708 - 9606 1993 ELAVL2 - HEL-N1|HELN1|HUB MIM:601673|HGNC:HGNC:3313|Ensembl:ENSG00000107105 9 9p21.3 ELAV like RNA binding protein 2 protein-coding ELAVL2 ELAV like RNA binding protein 2 O ELAV-like protein 2|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)|ELAV like neuron-specific RNA binding protein 2|hu-antigen B|nervous system-specific RNA-binding protein Hel-N1 20210708 - 9606 1994 ELAVL1 - ELAV1|HUR|Hua|MelG MIM:603466|HGNC:HGNC:3312|Ensembl:ENSG00000066044 19 19p13.2 ELAV like RNA binding protein 1 protein-coding ELAVL1 ELAV like RNA binding protein 1 O ELAV-like protein 1|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)|Hu antigen R|embryonic lethal, abnormal vision, drosophila, homolog-like 1|hu-antigen R 20211031 - 9606 1995 ELAVL3 - HUC|HUCL|PLE21 MIM:603458|HGNC:HGNC:3314|Ensembl:ENSG00000196361 19 19p13.2 ELAV like RNA binding protein 3 protein-coding ELAVL3 ELAV like RNA binding protein 3 O ELAV-like protein 3|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)|ELAV like neuron-specific RNA binding protein 3|Hu antigen C|hu-antigen C|paraneoplastic cerebellar degeneration-associated antigen|paraneoplastic limbic encephalitis antigen 21 20210611 - 9606 1996 ELAVL4 - HUD|PNEM MIM:168360|HGNC:HGNC:3315|Ensembl:ENSG00000162374 1 1p33-p32.3 ELAV like RNA binding protein 4 protein-coding ELAVL4 ELAV like RNA binding protein 4 O ELAV-like protein 4|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)|ELAV like neuron-specific RNA binding protein 4|Hu antigen D|paraneoplastic encephalomyelitis antigen HuD 20210611 - 9606 1997 ELF1 - EFTUD1|RIA1 MIM:189973|HGNC:HGNC:3316|Ensembl:ENSG00000120690 13 13q14.11 E74 like ETS transcription factor 1 protein-coding ELF1 E74 like ETS transcription factor 1 O ETS-related transcription factor Elf-1|E74-like factor 1 (ets domain transcription factor) 20210906 - 9606 1998 ELF2 - EU32|NERF|NERF-1A|NERF-1B|NERF-1a,b|NERF-2 HGNC:HGNC:3317|Ensembl:ENSG00000109381 4 4q31.1 E74 like ETS transcription factor 2 protein-coding ELF2 E74 like ETS transcription factor 2 O ETS-related transcription factor Elf-2|E74-like factor 2 (ets domain transcription factor)|ets family transcription factor ELF2C|new Ets-related factor 20210708 - 9606 1999 ELF3 - EPR-1|ERT|ESE-1|ESX MIM:602191|HGNC:HGNC:3318|Ensembl:ENSG00000163435 1 1q32.1 E74 like ETS transcription factor 3 protein-coding ELF3 E74 like ETS transcription factor 3 O ETS-related transcription factor Elf-3|E74-like factor 3 (ETS domain transcription factor, serine box, epithelial-specific)|E74-like factor 3 (ets domain transcription factor)|E74-like factor 3 (ets domain transcription factor, epithelial-specific )|epithelial-restricted with serine box|epithelium-restricted Ets protein ESX|epithelium-specific Ets transcription factor 1|ets domain transcription factor, serine box (epithelial-specific) 20211003 - 9606 2000 ELF4 - ELFR|MEF MIM:300775|HGNC:HGNC:3319|Ensembl:ENSG00000102034 X Xq26.1 E74 like ETS transcription factor 4 protein-coding ELF4 E74 like ETS transcription factor 4 O ETS-related transcription factor Elf-4|E74-like factor 4 (ets domain transcription factor)|myeloid Elf-1-like factor 20211026 - 9606 2001 ELF5 - ESE2 MIM:605169|HGNC:HGNC:3320|Ensembl:ENSG00000135374 11 11p13 E74 like ETS transcription factor 5 protein-coding ELF5 E74 like ETS transcription factor 5 O ETS-related transcription factor Elf-5|E74-like factor 5 (ets domain transcription factor)|epithelium-restricted ESE-1-related Ets factor|epithelium-specific Ets transcription factor 2 20210808 - 9606 2002 ELK1 - - MIM:311040|HGNC:HGNC:3321|Ensembl:ENSG00000126767 X Xp11.23 ETS transcription factor ELK1 protein-coding ELK1 ETS transcription factor ELK1 O ETS domain-containing protein Elk-1|ELK1, ETS transcription factor|ELK1, member of ETS oncogene family|ETS-like gene 1|tyrosine kinase (ELK1) oncogene 20210912 - 9606 2003 ELK2AP - ELK2|ELK2.1|ELK2P1 HGNC:HGNC:3323 14 14q32.33 ETS transcription factor ELK2A, pseudogene pseudo ELK2AP ETS transcription factor ELK2A, pseudogene O ELK1, member of ETS oncogene family pseudogene|ELK2, member of ETS oncogene family, pseudogene 1|ELK2A, member of ETS oncogene family, pseudogene 20210724 - 9606 2004 ELK3 - ERP|NET|SAP-2|SAP2 MIM:600247|HGNC:HGNC:3325|Ensembl:ENSG00000111145 12 12q23.1 ETS transcription factor ELK3 protein-coding ELK3 ETS transcription factor ELK3 O ETS domain-containing protein Elk-3|ELK3, ETS transcription factor|ELK3, ETS-domain protein (SRF accessory protein 2)|ETS-related protein ERP|ETS-related protein NET|SRF accessory protein 2|serum response factor accessory protein 2 20211026 - 9606 2005 ELK4 - SAP1 MIM:600246|HGNC:HGNC:3326|Ensembl:ENSG00000158711 1 1q32.1 ETS transcription factor ELK4 protein-coding ELK4 ETS transcription factor ELK4 O ETS domain-containing protein Elk-4|ELK4, ETS transcription factor|ELK4, ETS-domain protein (SRF accessory protein 1)|SAP-1|serum response factor accessory protein 1 20210912 - 9606 2006 ELN - ADCL1|SVAS|WBS|WS MIM:130160|HGNC:HGNC:3327|Ensembl:ENSG00000049540 7 7q11.23 elastin protein-coding ELN elastin O elastin|tropoelastin 20211017 - 9606 2009 EML1 - BH|ELP79|EMAP|EMAP-1|EMAPL MIM:602033|HGNC:HGNC:3330|Ensembl:ENSG00000066629 14 14q32.2 EMAP like 1 protein-coding EML1 EMAP like 1 O echinoderm microtubule-associated protein-like 1|echinoderm microtubule associated protein like 1 20210905 - 9606 2010 EMD - EDMD|LEMD5|STA MIM:300384|HGNC:HGNC:3331|Ensembl:ENSG00000102119 X Xq28 emerin protein-coding EMD emerin O emerin|LEM domain containing 5 20210708 - 9606 2011 MARK2 - EMK-1|EMK1|PAR-1|Par-1b|Par1b MIM:600526|HGNC:HGNC:3332|Ensembl:ENSG00000072518 11 11q13.1 microtubule affinity regulating kinase 2 protein-coding MARK2 microtubule affinity regulating kinase 2 O serine/threonine-protein kinase MARK2|ELKL motif kinase 1|MAP/microtubule affinity-regulating kinase 2|PAR1 homolog b|Ser/Thr protein kinase PAR-1B|serine/threonine protein kinase EMK|testicular tissue protein Li 117 20211028 - 9606 2012 EMP1 - CL-20|EMP-1|TMP MIM:602333|HGNC:HGNC:3333|Ensembl:ENSG00000134531 12 12p13.1 epithelial membrane protein 1 protein-coding EMP1 epithelial membrane protein 1 O epithelial membrane protein 1|tumor-associated membrane protein 20211017 - 9606 2013 EMP2 - XMP MIM:602334|HGNC:HGNC:3334|Ensembl:ENSG00000213853 16 16p13.13 epithelial membrane protein 2 protein-coding EMP2 epithelial membrane protein 2 O epithelial membrane protein 2 20210926 - 9606 2014 EMP3 - YMP MIM:602335|HGNC:HGNC:3335|Ensembl:ENSG00000142227 19 19q13.33 epithelial membrane protein 3 protein-coding EMP3 epithelial membrane protein 3 O epithelial membrane protein 3|EMP-3|HNMP-1|hematopoietic neural membrane protein 1 20210705 - 9606 2015 ADGRE1 - EMR1|TM7LN3 MIM:600493|HGNC:HGNC:3336|Ensembl:ENSG00000174837 19 19p13.3-p13.2 adhesion G protein-coupled receptor E1 protein-coding ADGRE1 adhesion G protein-coupled receptor E1 O adhesion G protein-coupled receptor E1|EGF-like module receptor 1|EGF-like module-containing mucin-like hormone receptor-like 1|EMR1 hormone receptor|egf-like module containing, mucin-like, hormone receptor-like 1|egf-like module containing, mucin-like, hormone receptor-like sequence 1 20210926 - 9606 2016 EMX1 - - MIM:600034|HGNC:HGNC:3340|Ensembl:ENSG00000135638 2 2p13.2 empty spiracles homeobox 1 protein-coding EMX1 empty spiracles homeobox 1 O homeobox protein EMX1|empty spiracles homolog 1|empty spiracles-like protein 1 20211017 - 9606 2017 CTTN - EMS1 MIM:164765|HGNC:HGNC:3338|Ensembl:ENSG00000085733 11 11q13.3 cortactin protein-coding CTTN cortactin O src substrate cortactin|1110020L01Rik|amplaxin|ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)|epididymis secretory sperm binding protein|oncogene EMS1 20210919 - 9606 2018 EMX2 - - MIM:600035|HGNC:HGNC:3341|Ensembl:ENSG00000170370 10 10q26.11 empty spiracles homeobox 2 protein-coding EMX2 empty spiracles homeobox 2 O homeobox protein EMX2|empty spiracles homolog 2|empty spiracles-like protein 2 20211017 - 9606 2019 EN1 - ENDOVESLB MIM:131290|HGNC:HGNC:3342|Ensembl:ENSG00000163064 2 2q14.2 engrailed homeobox 1 protein-coding EN1 engrailed homeobox 1 O homeobox protein engrailed-1|engrailed homolog 1|homeobox protein en-1|hu-En-1 20211031 - 9606 2020 EN2 - - MIM:131310|HGNC:HGNC:3343|Ensembl:ENSG00000164778 7 7q36.3 engrailed homeobox 2 protein-coding EN2 engrailed homeobox 2 O homeobox protein engrailed-2|engrailed homolog 2|engrailed-2|homeobox protein en-2|hu-En-2 20210802 - 9606 2021 ENDOG - - MIM:600440|HGNC:HGNC:3346|Ensembl:ENSG00000167136 9 9q34.11 endonuclease G protein-coding ENDOG endonuclease G O endonuclease G, mitochondrial|endo G|mitochondrial endonuclease G 20210704 - 9606 2022 ENG - END|HHT1|ORW1 MIM:131195|HGNC:HGNC:3349|Ensembl:ENSG00000106991 9 9q34.11 endoglin protein-coding ENG endoglin O endoglin|CD105 antigen 20210919 - 9606 2023 ENO1 - ENO1L1|HEL-S-17|MPB1|NNE|PPH MIM:172430|HGNC:HGNC:3350|Ensembl:ENSG00000074800 1 1p36.23 enolase 1 protein-coding ENO1 enolase 1 O alpha-enolase|c-myc promoter-binding protein-1|2-phospho-D-glycerate hydro-lyase|MYC promoter-binding protein 1|alpha enolase like 1|enolase 1, (alpha)|enolase-alpha|epididymis secretory protein Li 17|non-neural enolase|phosphopyruvate hydratase|plasminogen-binding protein|tau-crystallin 20211026 - 9606 2025 ENO1P1 - ENO1P HGNC:HGNC:3352|Ensembl:ENSG00000244457 1 1q43 enolase 1 pseudogene 1 pseudo ENO1P1 enolase 1 pseudogene 1 O enolase 1, (alpha) pseudogene 1 20210611 - 9606 2026 ENO2 - HEL-S-279|NSE MIM:131360|HGNC:HGNC:3353|Ensembl:ENSG00000111674 12 12p13.31 enolase 2 protein-coding ENO2 enolase 2 O gamma-enolase|2-phospho-D-glycerate hydro-lyase|2-phospho-D-glycerate hydrolyase|enolase 2 (gamma, neuronal)|epididymis secretory protein Li 279|neural enolase|neuron specific gamma enolase|neuron-specific enolase|neuronal enriched enolase|neurone-specific enolase 20211017 - 9606 2027 ENO3 - GSD13|MSE MIM:131370|HGNC:HGNC:3354|Ensembl:ENSG00000108515 17 17p13.2 enolase 3 protein-coding ENO3 enolase 3 O beta-enolase|2-phospho-D-glycerate hydrolyase|enolase 3 (beta, muscle)|muscle enriched enolase|muscle-specific enolase|skeletal muscle enolase 20210822 - 9606 2028 ENPEP - APA|CD249|gp160 MIM:138297|HGNC:HGNC:3355|Ensembl:ENSG00000138792 4 4q25 glutamyl aminopeptidase protein-coding ENPEP glutamyl aminopeptidase O glutamyl aminopeptidase|AP-A|EAP|aminopeptidase A|differentiation antigen gp160 20210906 - 9606 2029 ENSA - ARPP-19e MIM:603061|HGNC:HGNC:3360|Ensembl:ENSG00000143420 1 1q21.3 endosulfine alpha protein-coding ENSA endosulfine alpha O alpha-endosulfine 20210905 - 9606 2030 SLC29A1 - ENT1 MIM:602193|HGNC:HGNC:11003|Ensembl:ENSG00000112759 6 6p21.1 solute carrier family 29 member 1 (Augustine blood group) protein-coding SLC29A1 solute carrier family 29 member 1 (Augustine blood group) O equilibrative nucleoside transporter 1|equilibrative nitrobenzylmercaptopurine riboside (NBMPR)-sensitive nucleoside transporter|nucleoside transporter, es-type|solute carrier family 29 (equilibrative nucleoside transporter), member 1|solute carrier family 29 (nucleoside transporters), member 1 20211003 - 9606 2031 ENUR1 - - MIM:600631 13 13q13-q14.3 enuresis, nocturnal 1 unknown - - - - 20191002 - 9606 2032 ENUR2 - - MIM:600808 12 12q13-q21 enuresis, nocturnal 2 unknown - - - - 20191002 - 9606 2033 EP300 - KAT3B|MKHK2|RSTS2|p300 MIM:602700|HGNC:HGNC:3373|Ensembl:ENSG00000100393 22 22q13.2 E1A binding protein p300 protein-coding EP300 E1A binding protein p300 O histone acetyltransferase p300|E1A-associated protein p300|E1A-binding protein, 300kD|histone butyryltransferase p300|histone crotonyltransferase p300|p300 HAT|protein 2-hydroxyisobutyryltransferase p300|protein lactyltransferas p300|protein propionyltransferase p300 20211031 - 9606 2034 EPAS1 - ECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73 MIM:603349|HGNC:HGNC:3374|Ensembl:ENSG00000116016 2 2p21 endothelial PAS domain protein 1 protein-coding EPAS1 endothelial PAS domain protein 1 O endothelial PAS domain-containing protein 1|EPAS-1|HIF-1-alpha-like factor|HIF-1alpha-like factor|HIF-2-alpha|HIF2-alpha|PAS domain-containing protein 2|basic-helix-loop-helix-PAS protein MOP2|class E basic helix-loop-helix protein 73|hypoxia-inducible factor 2 alpha|member of PAS protein 2 20211026 - 9606 2035 EPB41 - 4.1R|EL1|HE MIM:130500|HGNC:HGNC:3377|Ensembl:ENSG00000159023 1 1p35.3 erythrocyte membrane protein band 4.1 protein-coding EPB41 erythrocyte membrane protein band 4.1 O protein 4.1|EPB4.1|P4.1|band 4.1|elliptocytosis 1, RH-linked|erythrocyte surface protein band 4.1 20211016 - 9606 2036 EPB41L1 - 4.1N|MRD11 MIM:602879|HGNC:HGNC:3378|Ensembl:ENSG00000088367 20 20q11.23 erythrocyte membrane protein band 4.1 like 1 protein-coding EPB41L1 erythrocyte membrane protein band 4.1 like 1 O band 4.1-like protein 1|neuron-type nonerythroid protein 4.1|neuronal protein 4.1 20211016 - 9606 2037 EPB41L2 - 4.1-G|4.1G MIM:603237|HGNC:HGNC:3379|Ensembl:ENSG00000079819 6 6q23.1-q23.2 erythrocyte membrane protein band 4.1 like 2 protein-coding EPB41L2 erythrocyte membrane protein band 4.1 like 2 O band 4.1-like protein 2|erythrocyte membrane protein band 4.1 like-protein 2|generally expressed protein 4.1 20210704 - 9606 2038 EPB42 - PA|SPH5 MIM:177070|HGNC:HGNC:3381|Ensembl:ENSG00000166947 15 15q15.2 erythrocyte membrane protein band 4.2 protein-coding EPB42 erythrocyte membrane protein band 4.2 O protein 4.2|P4.2|erythrocyte protein 4.2|erythrocyte surface protein band 4.2 20210611 - 9606 2039 DMTN - DMT|EPB49 MIM:125305|HGNC:HGNC:3382|Ensembl:ENSG00000158856 8 8p21.3 dematin actin binding protein protein-coding DMTN dematin actin binding protein O dematin|erythrocyte membrane protein band 4.9 (dematin) 20210708 - 9606 2040 STOM - BND7|EPB7|EPB72 MIM:133090|HGNC:HGNC:3383|Ensembl:ENSG00000148175 9 9q33.2 stomatin protein-coding STOM stomatin O stomatin|erythrocyte band 7 integral membrane protein|erythrocyte membrane protein band 7.2 (stomatin)|erythrocyte surface protein band 7.2|protein 7.2b 20211017 - 9606 2041 EPHA1 - EPH|EPHT|EPHT1 MIM:179610|HGNC:HGNC:3385|Ensembl:ENSG00000146904 7 7q34-q35 EPH receptor A1 protein-coding EPHA1 EPH receptor A1 O ephrin type-A receptor 1|eph tyrosine kinase 1|erythropoietin-producing hepatoma amplified sequence|erythropoietin-producing hepatoma receptor|hEpha1|oncogene EPH|soluble EPHA1 variant 1|soluble EPHA1 variant 2|tyrosine-protein kinase receptor EPH 20210708 - 9606 2042 EPHA3 - EK4|ETK|ETK1|HEK|HEK4|TYRO4 MIM:179611|HGNC:HGNC:3387|Ensembl:ENSG00000044524 3 3p11.1 EPH receptor A3 protein-coding EPHA3 EPH receptor A3 O ephrin type-A receptor 3|EPH-like kinase 4|TYRO4 protein tyrosine kinase|eph-like tyrosine kinase 1|human embryo kinase 1|testicular tissue protein Li 64|tyrosine-protein kinase receptor ETK1 20210926 - 9606 2043 EPHA4 - EK8|HEK8|SEK|TYRO1 MIM:602188|HGNC:HGNC:3388|Ensembl:ENSG00000116106 2 2q36.1 EPH receptor A4 protein-coding EPHA4 EPH receptor A4 O ephrin type-A receptor 4|EPH-like kinase 8|TYRO1 protein tyrosine kinase|receptor protein-tyrosine kinase HEK8|tyrosine-protein kinase TYRO1|tyrosine-protein kinase receptor SEK 20210906 - 9606 2044 EPHA5 - CEK7|EHK-1|EHK1|EK7|HEK7|TYRO4 MIM:600004|HGNC:HGNC:3389|Ensembl:ENSG00000145242 4 4q13.1-q13.2 EPH receptor A5 protein-coding EPHA5 EPH receptor A5 O ephrin type-A receptor 5|EPH homology kinase 1|EPH-like kinase 7|brain-specific kinase|epididymis secretory sperm binding protein|receptor protein-tyrosine kinase HEK7|tyrosine-protein kinase receptor EHK-1 20210822 - 9606 2045 EPHA7 - EHK-3|EHK3|EK11|HEK11 MIM:602190|HGNC:HGNC:3390|Ensembl:ENSG00000135333 6 6q16.1 EPH receptor A7 protein-coding EPHA7 EPH receptor A7 O ephrin type-A receptor 7|EPH homology kinase 3|EPH-like kinase 11|Eph homology kinase-3|receptor protein-tyrosine kinase HEK11|tyrosine-protein kinase receptor EHK-3 20210719 - 9606 2046 EPHA8 - EEK|EK3|HEK3 MIM:176945|HGNC:HGNC:3391|Ensembl:ENSG00000070886 1 1p36.12 EPH receptor A8 protein-coding EPHA8 EPH receptor A8 O ephrin type-A receptor 8|EPH- and ELK-related kinase|EPH- and ELK-related tyrosine kinase|EPH-like kinase 3|hydroxyaryl-protein kinase|protein-tyrosine kinase|tyrosine-protein kinase receptor EEK|tyrosylprotein kinase 20210708 - 9606 2047 EPHB1 - ELK|EPHT2|Hek6|NET MIM:600600|HGNC:HGNC:3392|Ensembl:ENSG00000154928 3 3q22.2 EPH receptor B1 protein-coding EPHB1 EPH receptor B1 O ephrin type-B receptor 1|EK6|EPH-like kinase 6|eph tyrosine kinase 2|neuronally-expressed EPH-related tyrosine kinase|soluble EPHB1 variant 1|tyrosine-protein kinase receptor EPH-2 20210905 - 9606 2048 EPHB2 - BDPLT22|CAPB|DRT|EK5|EPHT3|ERK|Hek5|PCBC|Tyro5 MIM:600997|HGNC:HGNC:3393|Ensembl:ENSG00000133216 1 1p36.12 EPH receptor B2 protein-coding EPHB2 EPH receptor B2 O ephrin type-B receptor 2|EPH-like kinase 5|developmentally-regulated Eph-related tyrosine kinase|elk-related tyrosine kinase|eph tyrosine kinase 3|protein-tyrosine kinase HEK5|renal carcinoma antigen NY-REN-47|tyrosine-protein kinase TYRO5|tyrosine-protein kinase receptor EPH-3 20210919 - 9606 2049 EPHB3 - EK2|ETK2|HEK2|TYRO6 MIM:601839|HGNC:HGNC:3394|Ensembl:ENSG00000182580 3 3q27.1 EPH receptor B3 protein-coding EPHB3 EPH receptor B3 O ephrin type-B receptor 3|EPH-like tyrosine kinase 2|embryonic kinase 2|human embryo kinase 2|tyrosine-protein kinase TYRO6 20210919 - 9606 2050 EPHB4 - CMAVM2|HFASD|HTK|LMPHM7|MYK1|TYRO11 MIM:600011|HGNC:HGNC:3395|Ensembl:ENSG00000196411 7 7q22.1 EPH receptor B4 protein-coding EPHB4 EPH receptor B4 O ephrin type-B receptor 4|ephrin receptor EphB4|hepatoma transmembrane kinase|soluble EPHB4 variant 1|soluble EPHB4 variant 2|soluble EPHB4 variant 3|tyrosine-protein kinase TYRO11|tyrosine-protein kinase receptor HTK 20210919 - 9606 2051 EPHB6 - HEP MIM:602757|HGNC:HGNC:3396|Ensembl:ENSG00000106123 7 7q34 EPH receptor B6 protein-coding EPHB6 EPH receptor B6 O ephrin type-B receptor 6|human kinase-defective Eph-family receptor protein|tyrosine-protein kinase-defective receptor EPH-6 20210912 - 9606 2052 EPHX1 - EPHX|EPOX|HYL1|MEH MIM:132810|HGNC:HGNC:3401|Ensembl:ENSG00000143819 1 1q42.12 epoxide hydrolase 1 protein-coding EPHX1 epoxide hydrolase 1 O epoxide hydrolase 1|epoxide hydratase|epoxide hydrolase 1 microsomal|epoxide hydrolase 1, microsomal (xenobiotic) 20210926 - 9606 2053 EPHX2 - ABHD20|CEH|SEH MIM:132811|HGNC:HGNC:3402|Ensembl:ENSG00000120915 8 8p21.2-p21.1 epoxide hydrolase 2 protein-coding EPHX2 epoxide hydrolase 2 O bifunctional epoxide hydrolase 2|epoxide hydratase|epoxide hydrolase 2, cytoplasmic|epoxide hydrolase 2, cytosolic|epoxide hydrolase, soluble 20211031 - 9606 2054 STX2 - EPIM|EPM|STX2A|STX2B|STX2C MIM:132350|HGNC:HGNC:3403|Ensembl:ENSG00000111450 12 12q24.33 syntaxin 2 protein-coding STX2 syntaxin 2 O syntaxin-2|epimorphin 20210611 - 9606 2055 CLN8 - C8orf61|EPMR|TLCD6 MIM:607837|HGNC:HGNC:2079|Ensembl:ENSG00000182372 8 8p23.3 CLN8 transmembrane ER and ERGIC protein protein-coding CLN8 CLN8 transmembrane ER and ERGIC protein O protein CLN8|ceroid-lipofuscinosis, neuronal 8 20210611 - 9606 2056 EPO - DBAL|ECYT5|EP|MVCD2 MIM:133170|HGNC:HGNC:3415|Ensembl:ENSG00000130427 7 7q22.1 erythropoietin protein-coding EPO erythropoietin O erythropoietin|epoetin 20211031 - 9606 2057 EPOR - EPO-R MIM:133171|HGNC:HGNC:3416|Ensembl:ENSG00000187266 19 19p13.2 erythropoietin receptor protein-coding EPOR erythropoietin receptor O erythropoietin receptor|truncated erythropoietin receptor 20210822 - 9606 2058 EPRS1 - EARS|EPRS|GLUPRORS|HLD15|PARS|PIG32|QARS|QPRS MIM:138295|HGNC:HGNC:3418|Ensembl:ENSG00000136628 1 1q41 glutamyl-prolyl-tRNA synthetase 1 protein-coding EPRS1 glutamyl-prolyl-tRNA synthetase 1 O bifunctional glutamate/proline--tRNA ligase|bifunctional aminoacyl-tRNA synthetase|cell proliferation-inducing gene 32 protein|glutamate tRNA ligase|glutamatyl-prolyl-tRNA synthetase|glutaminyl-tRNA synthetase|proliferation-inducing gene 32 protein|proliferation-inducing protein 32|proline-tRNA ligase|prolyl-tRNA synthetase 20210905 - 9606 2059 EPS8 - DFNB102 MIM:600206|HGNC:HGNC:3420|Ensembl:ENSG00000151491 12 12p12.3 epidermal growth factor receptor pathway substrate 8 protein-coding EPS8 epidermal growth factor receptor pathway substrate 8 O epidermal growth factor receptor kinase substrate 8 20211017 - 9606 2060 EPS15 - AF-1P|AF1P|MLLT5 MIM:600051|HGNC:HGNC:3419|Ensembl:ENSG00000085832 1 1p32.3 epidermal growth factor receptor pathway substrate 15 protein-coding EPS15 epidermal growth factor receptor pathway substrate 15 O epidermal growth factor receptor substrate 15|ALL1 fused gene from chromosome 1|protein AF-1p 20210808 - 9606 2063 NR2F6 - EAR-2|EAR2|ERBAL2 MIM:132880|HGNC:HGNC:7977|Ensembl:ENSG00000160113 19 19p13.11 nuclear receptor subfamily 2 group F member 6 protein-coding NR2F6 nuclear receptor subfamily 2 group F member 6 O nuclear receptor subfamily 2 group F member 6|ERBA-related gene-2|V-erbA-related protein 2|nuclear receptor V-erbA-related|v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 2 20210912 - 9606 2064 ERBB2 - CD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1|VSCN2 MIM:164870|HGNC:HGNC:3430|Ensembl:ENSG00000141736 17 17q12 erb-b2 receptor tyrosine kinase 2 protein-coding ERBB2 erb-b2 receptor tyrosine kinase 2 O receptor tyrosine-protein kinase erbB-2|c-erb B2/neu protein|herstatin|human epidermal growth factor receptor 2|metastatic lymph node gene 19 protein|neuro/glioblastoma derived oncogene homolog|neuroblastoma/glioblastoma derived oncogene homolog|proto-oncogene Neu|proto-oncogene c-ErbB-2|tyrosine kinase-type cell surface receptor HER2|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2|v-erb-b2 avian erythroblastic leukemia viral oncoprotein 2|v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog 20211031 - 9606 2065 ERBB3 - ErbB-3|FERLK|HER3|LCCS2|MDA-BF-1|VSCN1|c-erbB-3|c-erbB3|erbB3-S|p180-ErbB3|p45-sErbB3|p85-sErbB3 MIM:190151|HGNC:HGNC:3431|Ensembl:ENSG00000065361 12 12q13.2 erb-b2 receptor tyrosine kinase 3 protein-coding ERBB3 erb-b2 receptor tyrosine kinase 3 O receptor tyrosine-protein kinase erbB-3|human epidermal growth factor receptor 3|proto-oncogene-like protein c-ErbB-3|tyrosine kinase-type cell surface receptor HER3|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 20211031 - 9606 2066 ERBB4 - ALS19|HER4|p180erbB4 MIM:600543|HGNC:HGNC:3432|Ensembl:ENSG00000178568 2 2q34 erb-b2 receptor tyrosine kinase 4 protein-coding ERBB4 erb-b2 receptor tyrosine kinase 4 O receptor tyrosine-protein kinase erbB-4|avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4|human epidermal growth factor receptor 4|proto-oncogene-like protein c-ErbB-4|tyrosine kinase-type cell surface receptor HER4|v-erb-a erythroblastic leukemia viral oncogene homolog 4|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 20210906 - 9606 2067 ERCC1 - COFS4|RAD10|UV20 MIM:126380|HGNC:HGNC:3433|Ensembl:ENSG00000012061 19 19q13.32 ERCC excision repair 1, endonuclease non-catalytic subunit protein-coding ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit O DNA excision repair protein ERCC-1|excision repair cross-complementation group 1|excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) 20211031 - 9606 2068 ERCC2 - COFS2|EM9|TFIIH|TTD|TTD1|XPD MIM:126340|HGNC:HGNC:3434|Ensembl:ENSG00000104884 19 19q13.32 ERCC excision repair 2, TFIIH core complex helicase subunit protein-coding ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit O general transcription and DNA repair factor IIH helicase subunit XPD|BTF2 p80|CXPD|DNA excision repair protein ERCC-2|DNA repair protein complementing XP-D cells|TFIIH 80 kDa subunit|TFIIH basal transcription factor complex 80 kDa subunit|TFIIH basal transcription factor complex helicase XPB subunit|TFIIH basal transcription factor complex helicase XPD subunit|TFIIH basal transcription factor complex helicase subunit|TFIIH p80|TFIIH subunit XPD|basic transcription factor 2 80 kDa subunit|excision repair cross-complementation group 2|excision repair cross-complementing rodent repair deficiency, complementation group 2|xeroderma pigmentosum complementary group D|xeroderma pigmentosum group D-complementing protein 20211003 - 9606 2069 EREG - EPR|ER|Ep MIM:602061|HGNC:HGNC:3443|Ensembl:ENSG00000124882 4 4q13.3 epiregulin protein-coding EREG epiregulin O proepiregulin 20211031 - 9606 2070 EYA4 - CMD1J|DFNA10 MIM:603550|HGNC:HGNC:3522|Ensembl:ENSG00000112319 6 6q23.2 EYA transcriptional coactivator and phosphatase 4 protein-coding EYA4 EYA transcriptional coactivator and phosphatase 4 O eyes absent homolog 4|dJ78N10.1 (eyes absent)|eyes absent-like protein 4 20210912 - 9606 2071 ERCC3 - BTF2|GTF2H|RAD25|Ssl2|TFIIH|TTD2|XPB MIM:133510|HGNC:HGNC:3435|Ensembl:ENSG00000163161 2 2q14.3 ERCC excision repair 3, TFIIH core complex helicase subunit protein-coding ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit O general transcription and DNA repair factor IIH helicase subunit XPB|BTF2 p89|DNA excision repair protein ERCC-3|DNA repair helicase|DNA repair protein complementing XP-B cells|TFIIH 89 kDa subunit|TFIIH basal transcription factor complex 89 kDa subunit|TFIIH basal transcription factor complex helicase XPB subunit|TFIIH p89|TFIIH subunit XPB|basic transcription factor 2 89 kDa subunit|excision repair cross-complementation group 3|excision repair cross-complementing rodent repair deficiency, complementation group 3|xeroderma pigmentosum group B-complementing protein|xeroderma pigmentosum, complementation group B 20210905 - 9606 2072 ERCC4 - ERCC11|FANCQ|RAD1|XFEPS|XPF MIM:133520|HGNC:HGNC:3436|Ensembl:ENSG00000175595 16 16p13.12 ERCC excision repair 4, endonuclease catalytic subunit protein-coding ERCC4 ERCC excision repair 4, endonuclease catalytic subunit O DNA repair endonuclease XPF|DNA excision repair protein ERCC-4|DNA repair protein complementing XP-F cells|excision repair cross-complementation group 4|excision repair cross-complementing rodent repair deficiency, complementation group 4|excision-repair, complementing defective, in Chinese hamster|xeroderma pigmentosum group F-complementing protein|xeroderma pigmentosum, complementation group F 20211031 - 9606 2073 ERCC5 - COFS3|ERCC5-201|ERCM2|UVDR|XPG|XPGC MIM:133530|HGNC:HGNC:3437|Ensembl:ENSG00000134899 13 13q33.1 ERCC excision repair 5, endonuclease protein-coding ERCC5 ERCC excision repair 5, endonuclease O DNA excision repair protein ERCC-5|DNA repair protein complementing XP-G cells|XPG-complementing protein|excision repair cross-complementation group 5|excision repair cross-complementing rodent repair deficiency, complementation group 5|xeroderma pigmentosum, complementation group G 20211017 - 9606 2074 ERCC6 - ARMD5|CKN2|COFS|COFS1|CSB|CSB-PGBD3|POF11|RAD26|UVSS1 MIM:609413|HGNC:HGNC:3438|Ensembl:ENSG00000225830 10 10q11.23 ERCC excision repair 6, chromatin remodeling factor protein-coding ERCC6 ERCC excision repair 6, chromatin remodeling factor O DNA excision repair protein ERCC-6|ERCC6-PGBD3 fusion protein|ATP-dependent helicase ERCC6|Chimeric CSB-PGBD3 protein|Chimeric ERCC6-PGBD3 protein|Cockayne syndrome group B protein|cockayne syndrome protein CSB|excision repair cross-complementation group 6|excision repair cross-complementing rodent repair deficiency, complementation group 6 20211031 - 9606 2076 ERCM1 - - MIM:133535 3 - excision repair complementing defective repair in mouse cells unknown - - - - 20200625 - 9606 2077 ERF - CHYTS|CRS4|PE-2|PE2 MIM:611888|HGNC:HGNC:3444|Ensembl:ENSG00000105722 19 19q13.2 ETS2 repressor factor protein-coding ERF ETS2 repressor factor O ETS domain-containing transcription factor ERF 20210619 - 9606 2078 ERG - erg-3|p55 MIM:165080|HGNC:HGNC:3446|Ensembl:ENSG00000157554 21 21q22.2 ETS transcription factor ERG protein-coding ERG ETS transcription factor ERG O transcriptional regulator ERG|ERG, ETS transcription factor|FUS/ERG fusion protein|TMPRSS2/ERG fusion|erythroblast transformation-specific transcription factor ERG variant 10|ets-related|transcriptional regulator ERG (transforming protein ERG)|v-ets avian erythroblastosis virus E26 oncogene homolog|v-ets avian erythroblastosis virus E26 oncogene related|v-ets erythroblastosis virus E26 oncogene homolog|v-ets erythroblastosis virus E26 oncogene like 20211017 - 9606 2079 ERH - DROER MIM:601191|HGNC:HGNC:3447|Ensembl:ENSG00000100632 14 14q24.1 ERH mRNA splicing and mitosis factor protein-coding ERH ERH mRNA splicing and mitosis factor O enhancer of rudimentary homolog 20210905 - 9606 2081 ERN1 - IRE1|IRE1P|IRE1a|hIRE1p MIM:604033|HGNC:HGNC:3449|Ensembl:ENSG00000178607 17 17q23.3 endoplasmic reticulum to nucleus signaling 1 protein-coding ERN1 endoplasmic reticulum to nucleus signaling 1 O serine/threonine-protein kinase/endoribonuclease IRE1|ER to nucleus signalling 1|inositol-requiring 1|inositol-requiring enzyme 1|inositol-requiring protein 1|ire1-alpha|protein kinase/endoribonuclease 20211028 - 9606 2086 ERV3-1 - ERV-R|ERV3|ERVR|HERV-R|HERVR|envR MIM:131170|HGNC:HGNC:3454|Ensembl:ENSG00000213462 7 7q11.21 endogenous retrovirus group 3 member 1, envelope protein-coding ERV3-1 endogenous retrovirus group 3 member 1, envelope O endogenous retrovirus group 3 member 1 Env polyprotein|ERV-R envelope protein|ERV3-1 envelope protein|HERV-R envelope protein|HERV-R_7q21.2 provirus ancestral Env polyprotein|endogenous retroviral sequence 3|endogenous retrovirus group 3, member 1 20211014 - 9606 2090 ESA4 - - MIM:133220|HGNC:HGNC:3462 11 11q13-q22 esterase A4 protein-coding ESA4 esterase A4 O esterase A4 20190324 - 9606 2091 FBL - FIB|FLRN|Nop1|RNU3IP1 MIM:134795|HGNC:HGNC:3599|Ensembl:ENSG00000105202 19 19q13.2 fibrillarin protein-coding FBL fibrillarin O rRNA 2'-O-methyltransferase fibrillarin|34 kDa nucleolar scleroderma antigen|34-kD nucleolar scleroderma antigen|RNA, U3 small nucleolar interacting protein 1|U6 snRNA 2'-O-methyltransferase fibrillarin|histone-glutamine methyltransferase 20210905 - 9606 2096 ESAT - - HGNC:HGNC:3463 14 - esterase activator unknown ESAT esterase activator O - 20190324 - 9606 2097 ESB3 - - MIM:133290|HGNC:HGNC:3464 16 - esterase B3 protein-coding ESB3 esterase B3 O esterase B3 20190324 - 9606 2098 ESD - FGH MIM:133280|HGNC:HGNC:3465|Ensembl:ENSG00000139684 13 13q14.2 esterase D protein-coding ESD esterase D O S-formylglutathione hydrolase|esterase 10|esterase D/formylglutathione hydrolase|methylumbelliferyl-acetate deacetylase|testicular tissue protein Li 66 20210708 - 9606 2099 ESR1 - ER|ESR|ESRA|ESTRR|Era|NR3A1 MIM:133430|HGNC:HGNC:3467|Ensembl:ENSG00000091831 6 6q25.1-q25.2 estrogen receptor 1 protein-coding ESR1 estrogen receptor 1 O estrogen receptor|E2 receptor alpha|ER-alpha|estradiol receptor|estrogen nuclear receptor alpha|estrogen receptor alpha E1-E2-1-2|estrogen receptor alpha E1-N2-E2-1-2|nuclear receptor subfamily 3 group A member 1|oestrogen receptor alpha 20211031 - 9606 2100 ESR2 - ER-BETA|ESR-BETA|ESRB|ESTRB|Erb|NR3A2|ODG8 MIM:601663|HGNC:HGNC:3468|Ensembl:ENSG00000140009 14 14q23.2-q23.3 estrogen receptor 2 protein-coding ESR2 estrogen receptor 2 O estrogen receptor beta|estrogen receptor beta 4|estrogen receptor beta splice variant, ERbeta2delta7|estrogen receptor beta splice variant, ERbeta4delta7|estrogen receptor beta splice variant, ERbeta6|estrogen receptor beta splice variant, ERbeta6delta7|estrogen receptor beta splice variant, ERbeta7|estrogen receptor beta splice variant, ERbeta7delta7|estrogen receptor beta splice variant, ERbetaEx. 4L|estrogen receptor beta splice variant, ERbetaEx. 6L|nuclear receptor subfamily 3 group A member 2|oestrogen receptor beta 20211031 - 9606 2101 ESRRA - ERR1|ERRa|ERRalpha|ESRL1|NR3B1 MIM:601998|HGNC:HGNC:3471|Ensembl:ENSG00000173153 11 11q13.1 estrogen related receptor alpha protein-coding ESRRA estrogen related receptor alpha O steroid hormone receptor ERR1|ERR-alpha|estrogen receptor-like 1|estrogen-related nuclear receptor alpha|nuclear receptor subfamily 3 group B member 1 20211031 - 9606 2103 ESRRB - DFNB35|ERR beta-2|ERR2|ERRb|ERRbeta2|ESRL2|NR3B2 MIM:602167|HGNC:HGNC:3473|Ensembl:ENSG00000119715 14 14q24.3 estrogen related receptor beta protein-coding ESRRB estrogen related receptor beta O steroid hormone receptor ERR2|estrogen receptor-like 2|estrogen-related nuclear receptor beta|nuclear receptor ERRB2|nuclear receptor subfamily 3 group B member 2|orphan nuclear receptor 20211003 - 9606 2104 ESRRG - ERR-gamma|ERR3|ERRg|ERRgamma|NR3B3 MIM:602969|HGNC:HGNC:3474|Ensembl:ENSG00000196482 1 1q41 estrogen related receptor gamma protein-coding ESRRG estrogen related receptor gamma O estrogen-related receptor gamma|ERR gamma-2|estrogen receptor-related protein 3|nuclear receptor subfamily 3 group B member 3 20210822 - 9606 2107 ETF1 - D5S1995|ERF|ERF1|RF1|SUP45L1|TB3-1 MIM:600285|HGNC:HGNC:3477|Ensembl:ENSG00000120705 5 5q31.2 eukaryotic translation termination factor 1 protein-coding ETF1 eukaryotic translation termination factor 1 O eukaryotic peptide chain release factor subunit 1|polypeptide chain release factor 1|protein Cl1|sup45 (yeast omnipotent suppressor 45) homolog-like 1 20211028 - 9606 2108 ETFA - EMA|GA2|MADD MIM:608053|HGNC:HGNC:3481|Ensembl:ENSG00000140374 15 15q24.2-q24.3 electron transfer flavoprotein subunit alpha protein-coding ETFA electron transfer flavoprotein subunit alpha O electron transfer flavoprotein subunit alpha, mitochondrial|alpha-ETF|electron transfer flavoprotein alpha subunit|electron transfer flavoprotein, alpha polypeptide|epididymis secretory sperm binding protein|glutaric aciduria II 20210905 - 9606 2109 ETFB - FP585|MADD MIM:130410|HGNC:HGNC:3482|Ensembl:ENSG00000105379 19 19q13.41 electron transfer flavoprotein subunit beta protein-coding ETFB electron transfer flavoprotein subunit beta O electron transfer flavoprotein subunit beta|beta-ETF|electron transfer flavoprotein beta subunit|electron transfer flavoprotein, beta polypeptide|electron-transferring-flavoprotein, beta polypeptide 20210905 - 9606 2110 ETFDH - ETFQO|MADD MIM:231675|HGNC:HGNC:3483|Ensembl:ENSG00000171503 4 4q32.1 electron transfer flavoprotein dehydrogenase protein-coding ETFDH electron transfer flavoprotein dehydrogenase O electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial|ETF dehydrogenase|ETF-QO|ETF-ubiquinone oxidoreductase|electron-transferring-flavoprotein dehydrogenase|mutant electron transfer flavoprotein dehydrogenase 20211003 - 9606 2112 ETM2 - ETM MIM:602134 2 2p25-p22 essential tremor 2 unknown - - - - 20191002 - 9606 2113 ETS1 - ETS-1|EWSR2|c-ets-1|p54 MIM:164720|HGNC:HGNC:3488|Ensembl:ENSG00000134954 11 11q24.3 ETS proto-oncogene 1, transcription factor protein-coding ETS1 ETS proto-oncogene 1, transcription factor O protein C-ets-1|Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1|v-ets avian erythroblastosis virus E2 oncogene homolog 1|v-ets avian erythroblastosis virus E26 oncogene homolog 1 20211031 - 9606 2114 ETS2 - ETS2IT1 MIM:164740|HGNC:HGNC:3489|Ensembl:ENSG00000157557 21 21q22.2 ETS proto-oncogene 2, transcription factor protein-coding ETS2 ETS proto-oncogene 2, transcription factor O protein C-ets-2|oncogene ETS-2|v-ets avian erythroblastosis virus E2 oncogene homolog 2|v-ets avian erythroblastosis virus E26 oncogene homolog 2|v-ets erythroblastosis virus E26 oncogene homolog 2 20210808 - 9606 2115 ETV1 - ER81 MIM:600541|HGNC:HGNC:3490|Ensembl:ENSG00000006468 7 7p21.2 ETS variant transcription factor 1 protein-coding ETV1 ETS variant transcription factor 1 O ETS translocation variant 1|ETS variant 1|ets variant gene 1|ets-related protein 81 20210906 - 9606 2116 ETV2 - ER71|ETSRP71 MIM:609358|HGNC:HGNC:3491|Ensembl:ENSG00000105672 19 19q13.12 ETS variant transcription factor 2 protein-coding ETV2 ETS variant transcription factor 2 O ETS translocation variant 2|ETS variant 2|ets variant gene 2|ets-related protein 71 20210628 - 9606 2117 ETV3 - METS|PE-1|PE1 MIM:164873|HGNC:HGNC:3492|Ensembl:ENSG00000117036 1 1q23.1 ETS variant transcription factor 3 protein-coding ETV3 ETS variant transcription factor 3 O ETS translocation variant 3|ETS domain transcriptional repressor PE1|ETS variant 3|ets variant gene 3, ETS family transcriptional repressor|mitogenic Ets transcriptional suppressor 20210611 - 9606 2118 ETV4 - E1A-F|E1AF|PEA3|PEAS3 MIM:600711|HGNC:HGNC:3493|Ensembl:ENSG00000175832 17 17q21.31 ETS variant transcription factor 4 protein-coding ETV4 ETS variant transcription factor 4 O ETS translocation variant 4|ETS variant 4|EWS protein/E1A enhancer binding protein chimera|adenovirus E1A enhancer-binding protein|ets variant gene 4 (E1A enhancer-binding protein, E1AF)|polyomavirus enhancer activator 3 homolog 20211017 - 9606 2119 ETV5 - ERM MIM:601600|HGNC:HGNC:3494|Ensembl:ENSG00000244405 3 3q27.2 ETS variant transcription factor 5 protein-coding ETV5 ETS variant transcription factor 5 O ETS translocation variant 5|ETS variant 5|ets-related molecule|ets-related protein ERM 20211017 - 9606 2120 ETV6 - TEL|TEL/ABL|THC5 MIM:600618|HGNC:HGNC:3495|Ensembl:ENSG00000139083 12 12p13.2 ETS variant transcription factor 6 protein-coding ETV6 ETS variant transcription factor 6 O transcription factor ETV6|ETS translocation variant 6|ETS variant 6|ETS-related protein Tel1|TEL1 oncogene|ets variant gene 6 (TEL oncogene) 20210906 - 9606 2121 EVC - DWF-1|EVC1|EVCL MIM:604831|HGNC:HGNC:3497|Ensembl:ENSG00000072840 4 4p16.2 EvC ciliary complex subunit 1 protein-coding EVC EvC ciliary complex subunit 1 O ellis-van Creveld syndrome protein|Ellis van Creveld protein|Ellis van Creveld syndrome 20210611 - 9606 2122 MECOM - AML1-EVI-1|EVI1|KMT8E|MDS1|MDS1-EVI1|PRDM3|RUSAT2 MIM:165215|HGNC:HGNC:3498|Ensembl:ENSG00000085276 3 3q26.2 MDS1 and EVI1 complex locus protein-coding MECOM MDS1 and EVI1 complex locus O histone-lysine N-methyltransferase MECOM|AML1-EVI-1 fusion protein|MDS1 and EVI1 complex locus protein EVI1|MDS1 and EVI1 complex locus protein MDS1|PR domain 3|ecotropic virus integration site 1 protein homolog|myelodysplasia syndrome-associated protein 1|oncogene EVI1|zinc finger protein Evi1 20211031 - 9606 2123 EVI2A - EVDA|EVI-2A|EVI2 MIM:158380|HGNC:HGNC:3499|Ensembl:ENSG00000126860 17 17q11.2 ecotropic viral integration site 2A protein-coding EVI2A ecotropic viral integration site 2A O protein EVI2A|ecotropic viral integration site 2A protein homolog 20210611 - 9606 2124 EVI2B - CD361|D17S376|EVDB MIM:158381|HGNC:HGNC:3500|Ensembl:ENSG00000185862 17 17q11.2 ecotropic viral integration site 2B protein-coding EVI2B ecotropic viral integration site 2B O protein EVI2B|EVI-2B|ecotropic viral integration site 2B protein homolog 20210611 - 9606 2125 EVPL - EVPK MIM:601590|HGNC:HGNC:3503|Ensembl:ENSG00000167880 17 17q25.1 envoplakin protein-coding EVPL envoplakin O envoplakin|210 kDa cornified envelope precursor protein|210 kDa paraneoplastic pemphigus antigen 20210708 - 9606 2128 EVX1 - EVX-1 MIM:142996|HGNC:HGNC:3506|Ensembl:ENSG00000106038 7 7p15.2 even-skipped homeobox 1 protein-coding EVX1 even-skipped homeobox 1 O homeobox even-skipped homolog protein 1|eve, even-skipped homeo box homolog 1|eve, even-skipped homeobox homolog 1|even-skipped homeo box 1 (homolog of Drosophila) 20210611 - 9606 2130 EWSR1 - EWS|EWS-FLI1|bK984G1.4 MIM:133450|HGNC:HGNC:3508|Ensembl:ENSG00000182944 22 22q12.2 EWS RNA binding protein 1 protein-coding EWSR1 EWS RNA binding protein 1 O RNA-binding protein EWS|EWS RNA-binding protein variant 6|Ewing sarcoma breakpoint region 1|Ewings sarcoma EWS-Fli1 (type 1) oncogene 20211016 - 9606 2131 EXT1 - EXT|LGCR|LGS|TRPS2|TTV MIM:608177|HGNC:HGNC:3512|Ensembl:ENSG00000182197 8 8q24.11 exostosin glycosyltransferase 1 protein-coding EXT1 exostosin glycosyltransferase 1 O exostosin-1|Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|Langer-Giedion syndrome chromosome region|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase|exostoses (multiple) 1|glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|multiple exostoses protein 1|putative tumor suppressor protein EXT1 20211003 - 9606 2132 EXT2 - SOTV|SSMS MIM:608210|HGNC:HGNC:3513|Ensembl:ENSG00000151348 11 11p11.2 exostosin glycosyltransferase 2 protein-coding EXT2 exostosin glycosyltransferase 2 O exostosin-2|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase|glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|multiple exostoses protein 2|multiple exostosis 2|putative tumor suppressor protein EXT2 20210926 - 9606 2133 EXT3 - EXT2 MIM:600209 19 19p exostoses (multiple) 3 unknown - - - - 20191002 - 9606 2134 EXTL1 - EXTL MIM:601738|HGNC:HGNC:3515|Ensembl:ENSG00000158008 1 1p36.11 exostosin like glycosyltransferase 1 protein-coding EXTL1 exostosin like glycosyltransferase 1 O exostosin-like 1|alpha-N-acetylglucosaminyltransferase II|exostoses (multiple)-like 1|exostosin-L|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase|multiple exostosis-like protein 20210708 - 9606 2135 EXTL2 - EXTR2 MIM:602411|HGNC:HGNC:3516|Ensembl:ENSG00000162694 1 1p21.2 exostosin like glycosyltransferase 2 protein-coding EXTL2 exostosin like glycosyltransferase 2 O exostosin-like 2|EXT-related protein 2|alpha-1,4-N-acetylhexosaminyltransferase EXTL2|alpha-GalNAcT EXTL2|exostoses (multiple)-like 2|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|processed exostosin-like 2 20210708 - 9606 2137 EXTL3 - BOTV|EXTL1L|EXTR1|ISDNA|REGR|RPR MIM:605744|HGNC:HGNC:3518|Ensembl:ENSG00000012232 8 8p21.1 exostosin like glycosyltransferase 3 protein-coding EXTL3 exostosin like glycosyltransferase 3 O exostosin-like 3|EXT-related 1|epididymis secretory sperm binding protein|exostoses (multiple)-like 3|exostosin tumor-like 3|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|hereditary multiple exostoses gene isolog|putative tumor suppressor protein EXTL3|reg receptor 20210816 - 9606 2138 EYA1 - BOP|BOR|BOS1|OFC1 MIM:601653|HGNC:HGNC:3519|Ensembl:ENSG00000104313 8 8q13.3 EYA transcriptional coactivator and phosphatase 1 protein-coding EYA1 EYA transcriptional coactivator and phosphatase 1 O eyes absent homolog 1 20211031 - 9606 2139 EYA2 - EAB1 MIM:601654|HGNC:HGNC:3520|Ensembl:ENSG00000064655 20 20q13.12 EYA transcriptional coactivator and phosphatase 2 protein-coding EYA2 EYA transcriptional coactivator and phosphatase 2 O eyes absent homolog 2 20210905 - 9606 2140 EYA3 - - MIM:601655|HGNC:HGNC:3521|Ensembl:ENSG00000158161 1 1p35.3 EYA transcriptional coactivator and phosphatase 3 protein-coding EYA3 EYA transcriptional coactivator and phosphatase 3 O eyes absent homolog 3|eyes absent 3 20210808 - 9606 2141 EYCL1 - GEY - 19 - eye color 1 (green/blue) unknown - - - - 20200625 - 9606 2145 EZH1 - KMT6B MIM:601674|HGNC:HGNC:3526|Ensembl:ENSG00000108799 17 17q21.2 enhancer of zeste 1 polycomb repressive complex 2 subunit protein-coding EZH1 enhancer of zeste 1 polycomb repressive complex 2 subunit O histone-lysine N-methyltransferase EZH1|ENX-2|enhancer of zeste homolog 1 20211028 - 9606 2146 EZH2 - ENX-1|ENX1|EZH2b|KMT6|KMT6A|WVS|WVS2 MIM:601573|HGNC:HGNC:3527|Ensembl:ENSG00000106462 7 7q36.1 enhancer of zeste 2 polycomb repressive complex 2 subunit protein-coding EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit O histone-lysine N-methyltransferase EZH2|enhancer of zeste homolog 2|lysine N-methyltransferase 6 20211031 - 9606 2147 F2 - PT|RPRGL2|THPH1 MIM:176930|HGNC:HGNC:3535|Ensembl:ENSG00000180210 11 11p11.2 coagulation factor II, thrombin protein-coding F2 coagulation factor II, thrombin O prothrombin|prepro-coagulation factor II|prothrombin B-chain|thrombin factor II 20211031 - 9606 2149 F2R - CF2R|HTR|PAR-1|PAR1|TR MIM:187930|HGNC:HGNC:3537|Ensembl:ENSG00000181104 5 5q13.3 coagulation factor II thrombin receptor protein-coding F2R coagulation factor II thrombin receptor O proteinase-activated receptor 1|protease-activated receptor 1 20211031 - 9606 2150 F2RL1 - GPR11|PAR2 MIM:600933|HGNC:HGNC:3538|Ensembl:ENSG00000164251 5 5q13.3 F2R like trypsin receptor 1 protein-coding F2RL1 F2R like trypsin receptor 1 O proteinase-activated receptor 2|G-protein coupled receptor 11|coagulation factor II (thrombin) receptor-like 1|protease-activated receptor 2|thrombin receptor-like 1 20211017 - 9606 2151 F2RL2 - PAR-3|PAR3 MIM:601919|HGNC:HGNC:3539|Ensembl:ENSG00000164220 5 5q13.3 coagulation factor II thrombin receptor like 2 protein-coding F2RL2 coagulation factor II thrombin receptor like 2 O proteinase-activated receptor 3|Coagulation factor II receptor-like 2 (protease-actovated receptor 3)|protease-activated receptor 3|thrombin receptor-like 2 20210708 - 9606 2152 F3 - CD142|TF|TFA MIM:134390|HGNC:HGNC:3541|Ensembl:ENSG00000117525 1 1p21.3 coagulation factor III, tissue factor protein-coding F3 coagulation factor III, tissue factor O tissue factor|coagulation factor III (thromboplastin, tissue factor) 20211031 - 9606 2153 F5 - FVL|PCCF|RPRGL1|THPH2 MIM:612309|HGNC:HGNC:3542|Ensembl:ENSG00000198734 1 1q24.2 coagulation factor V protein-coding F5 coagulation factor V O coagulation factor V|activated protein c cofactor|coagulation factor V (proaccelerin, labile factor)|coagulation factor V jinjiang A2 domain|factor V Leiden 20211031 - 9606 2155 F7 - SPCA MIM:613878|HGNC:HGNC:3544|Ensembl:ENSG00000057593 13 13q34 coagulation factor VII protein-coding F7 coagulation factor VII O coagulation factor VII|FVII coagulation protein|coagulation factor VII (serum prothrombin conversion accelerator)|eptacog alfa|proconvertin 20211003 - 9606 2156 F7R - F7E MIM:134450|HGNC:HGNC:3545 8 8p23.2-p23.1 coagulation factor VII regulator unknown F7R coagulation factor VII regulator O - 20190324 - 9606 2157 F8 - AHF|DXS1253E|F8B|F8C|FVIII|HEMA MIM:300841|HGNC:HGNC:3546|Ensembl:ENSG00000185010 X Xq28 coagulation factor VIII protein-coding F8 coagulation factor VIII O coagulation factor VIII|antihemophilic factor|coagulation factor VIII A1 domain|coagulation factor VIII C2 domain|coagulation factor VIII, procoagulant component|coagulation factor VIIIc|factor VIII F8B 20211003 - 9606 2158 F9 - F9 p22|FIX|HEMB|P19|PTC|THPH8 MIM:300746|HGNC:HGNC:3551|Ensembl:ENSG00000101981 X Xq27.1 coagulation factor IX protein-coding F9 coagulation factor IX O coagulation factor IX|Christmas factor|factor 9|factor IX F9|plasma thromboplastic component|plasma thromboplastin component 20211003 - 9606 2159 F10 - FX|FXA MIM:613872|HGNC:HGNC:3528|Ensembl:ENSG00000126218 13 13q34 coagulation factor X protein-coding F10 coagulation factor X O coagulation factor X|Stuart-Prower factor|factor X|factor Xa|prothrombinase 20211031 - 9606 2160 F11 - FXI|PTA MIM:264900|HGNC:HGNC:3529|Ensembl:ENSG00000088926 4 4q35.2 coagulation factor XI protein-coding F11 coagulation factor XI O coagulation factor XI|coagualtion factor XI|plasma thromboplastin antecedent 20211031 - 9606 2161 F12 - HAE3|HAEX|HAF MIM:610619|HGNC:HGNC:3530|Ensembl:ENSG00000131187 5 5q35.3 coagulation factor XII protein-coding F12 coagulation factor XII O coagulation factor XII|Hageman factor|beta-factor XIIa part 1|beta-factor XIIa part 2|coagulation factor XIIa heavy chain|coagulation factor XIIa light chain 20210708 - 9606 2162 F13A1 - F13A MIM:134570|HGNC:HGNC:3531|Ensembl:ENSG00000124491 6 6p25.1 coagulation factor XIII A chain protein-coding F13A1 coagulation factor XIII A chain O coagulation factor XIII A chain|FSF, A subunit|TGase|bA525O21.1 (coagulation factor XIII, A1 polypeptide)|coagulation factor XIII, A polypeptide|coagulation factor XIII, A1 polypeptide|coagulation factor XIIIa|factor XIIIa|fibrin stabilizing factor, A subunit|fibrinoligase|protein-glutamine gamma-glutamyltransferase A chain|transglutaminase A chain|transglutaminase. plasma 20210816 - 9606 2165 F13B - FXIIIB MIM:134580|HGNC:HGNC:3534|Ensembl:ENSG00000143278 1 1q31.3 coagulation factor XIII B chain protein-coding F13B coagulation factor XIII B chain O coagulation factor XIII B chain|TGase|coagulation factor XIII, B polypeptide|fibrin-stabilizing factor B subunit|protein-glutamine gamma-glutamyltransferase B chain|transglutaminase B chain 20210708 - 9606 2166 FAAH - FAAH-1|PSAB MIM:602935|HGNC:HGNC:3553|Ensembl:ENSG00000117480 1 1p33 fatty acid amide hydrolase protein-coding FAAH fatty acid amide hydrolase O fatty-acid amide hydrolase 1|anandamide amidohydrolase 1|fatty acid ester hydrolase|oleamide hydrolase 1 20211003 - 9606 2167 FABP4 - A-FABP|AFABP|ALBP|HEL-S-104|aP2 MIM:600434|HGNC:HGNC:3559|Ensembl:ENSG00000170323 8 8q21.13 fatty acid binding protein 4 protein-coding FABP4 fatty acid binding protein 4 O fatty acid-binding protein, adipocyte|adipocyte fatty acid binding protein|adipocyte lipid-binding protein|adipocyte-type fatty acid-binding protein|epididymis secretory protein Li 104|fatty acid binding protein 4, adipocyte 20211031 - 9606 2168 FABP1 - FABPL|L-FABP MIM:134650|HGNC:HGNC:3555|Ensembl:ENSG00000163586 2 2p11.2 fatty acid binding protein 1 protein-coding FABP1 fatty acid binding protein 1 O fatty acid-binding protein, liver|fatty acid binding protein 1, liver|liver-type fatty acid-binding protein 20211031 - 9606 2169 FABP2 - FABPI|I-FABP MIM:134640|HGNC:HGNC:3556|Ensembl:ENSG00000145384 4 4q26 fatty acid binding protein 2 protein-coding FABP2 fatty acid binding protein 2 O fatty acid-binding protein, intestinal|fatty acid binding protein 2, intestinal|intestinal-type fatty acid-binding protein 20211031 - 9606 2170 FABP3 - FABP11|H-FABP|M-FABP|MDGI|O-FABP MIM:134651|HGNC:HGNC:3557|Ensembl:ENSG00000121769 1 1p35.2 fatty acid binding protein 3 protein-coding FABP3 fatty acid binding protein 3 O fatty acid-binding protein, heart|epididymis secretory sperm binding protein|fatty acid binding protein 11|fatty acid binding protein 3, muscle and heart|heart-type fatty acid-binding protein|mammary-derived growth inhibitor|muscle fatty acid-binding protein 20211029 - 9606 2171 FABP5 - E-FABP|EFABP|KFABP|PA-FABP|PAFABP MIM:605168|HGNC:HGNC:3560|Ensembl:ENSG00000164687 8 8q21.13 fatty acid binding protein 5 protein-coding FABP5 fatty acid binding protein 5 O fatty acid-binding protein 5|epidermal-type fatty acid-binding protein|fatty acid binding protein 5 (psoriasis-associated)|psoriasis-associated fatty acid-binding protein homolog 20211029 - 9606 2172 FABP6 - I-15P|I-BABP|I-BALB|I-BAP|ILBP|ILBP3|ILLBP MIM:600422|HGNC:HGNC:3561|Ensembl:ENSG00000170231 5 5q33.3 fatty acid binding protein 6 protein-coding FABP6 fatty acid binding protein 6 O gastrotropin|GT|fatty acid binding protein 6, ileal|ileal bile acid binding protein|ileal lipid-binding protein|illeal lipid-binding protein|intestinal 15 kDa protein 20211029 - 9606 2173 FABP7 - B-FABP|BLBP|FABPB|MRG MIM:602965|HGNC:HGNC:3562|Ensembl:ENSG00000164434 6 6q22.31 fatty acid binding protein 7 protein-coding FABP7 fatty acid binding protein 7 O fatty acid-binding protein, brain|brain lipid-binding protein|brain-type fatty acid-binding protein|hypothetical protein DKFZp547J2313|mammary-derived growth inhibitor-related 20211029 - 9606 2175 FANCA - FA|FA-H|FA1|FAA|FACA|FAH|FANCH MIM:607139|HGNC:HGNC:3582|Ensembl:ENSG00000187741 16 16q24.3 FA complementation group A protein-coding FANCA FA complementation group A O Fanconi anemia group A protein|Fanconi anemia complementation group A|Fanconi anemia, complementation group H|Fanconi anemia, type 1 20210919 - 9606 2176 FANCC - FA3|FAC|FACC MIM:613899|HGNC:HGNC:3584|Ensembl:ENSG00000158169 9 9q22.32 FA complementation group C protein-coding FANCC FA complementation group C O Fanconi anemia group C protein|Fanconi anemia complementation group C 20210708 - 9606 2177 FANCD2 - FA-D2|FA4|FACD|FAD|FAD2|FANCD MIM:613984|HGNC:HGNC:3585|Ensembl:ENSG00000144554 3 3p25.3 FA complementation group D2 protein-coding FANCD2 FA complementation group D2 O Fanconi anemia group D2 protein|Fanconi anemia complementation group D2 20210816 - 9606 2178 FANCE - FACE|FAE MIM:613976|HGNC:HGNC:3586|Ensembl:ENSG00000112039 6 6p21.31 FA complementation group E protein-coding FANCE FA complementation group E O Fanconi anemia group E protein|Fanconi anemia complementation group E 20210726 - 9606 2180 ACSL1 - ACS1|FACL1|FACL2|LACS|LACS1|LACS2 MIM:152425|HGNC:HGNC:3569|Ensembl:ENSG00000151726 4 4q35.1 acyl-CoA synthetase long chain family member 1 protein-coding ACSL1 acyl-CoA synthetase long chain family member 1 O long-chain-fatty-acid--CoA ligase 1|LACS 1|LACS 2|acyl-CoA synthetase 1|arachidonate--CoA ligase|fatty-acid-Coenzyme A ligase, long-chain 1|fatty-acid-Coenzyme A ligase, long-chain 2|lignoceroyl-CoA synthase|long-chain acyl-CoA synthetase 1|long-chain acyl-CoA synthetase 2|long-chain fatty acid-CoA ligase 2|long-chain fatty-acid-coenzyme A ligase 1|palmitoyl-CoA ligase 1|palmitoyl-CoA ligase 2|paltimoyl-CoA ligase 1|phytanate--CoA ligase 20211017 - 9606 2181 ACSL3 - ACS3|FACL3|LACS 3|LACS3|PRO2194 MIM:602371|HGNC:HGNC:3570|Ensembl:ENSG00000123983 2 2q36.1 acyl-CoA synthetase long chain family member 3 protein-coding ACSL3 acyl-CoA synthetase long chain family member 3 O long-chain-fatty-acid--CoA ligase 3|arachidonate--CoA ligase|fatty-acid-Coenzyme A ligase, long-chain 3|lignoceroyl-CoA synthase|long-chain acyl-CoA synthetase 3 20210906 - 9606 2182 ACSL4 - ACS4|FACL4|LACS4|MRX63|MRX68|XLID63 MIM:300157|HGNC:HGNC:3571|Ensembl:ENSG00000068366 X Xq23 acyl-CoA synthetase long chain family member 4 protein-coding ACSL4 acyl-CoA synthetase long chain family member 4 O long-chain-fatty-acid--CoA ligase 4|acyl-CoA synthetase 4|arachidonate--CoA ligase|fatty-acid-Coenzyme A ligase, long-chain 4|lignoceroyl-CoA synthase|long-chain acyl-CoA synthetase 4|long-chain fatty-acid-Coenzyme A ligase 4 20210905 - 9606 2184 FAH - - MIM:613871|HGNC:HGNC:3579|Ensembl:ENSG00000103876 15 15q25.1 fumarylacetoacetate hydrolase protein-coding FAH fumarylacetoacetate hydrolase O fumarylacetoacetase|FAA|beta-diketonase|epididymis secretory sperm binding protein|fumarylacetoacetate hydrolase (fumarylacetoacetase) 20210708 - 9606 2185 PTK2B - CADTK|CAKB|FADK2|FAK2|PKB|PTK|PYK2|RAFTK MIM:601212|HGNC:HGNC:9612|Ensembl:ENSG00000120899 8 8p21.2 protein tyrosine kinase 2 beta protein-coding PTK2B protein tyrosine kinase 2 beta O protein-tyrosine kinase 2-beta|CAK-beta|FADK 2|PTK2B protein tyrosine kinase 2 beta|calcium-dependent tyrosine kinase|calcium-regulated non-receptor proline-rich tyrosine kinase|cell adhesion kinase beta|focal adhesion kinase 2|proline-rich tyrosine kinase 2|protein kinase B|related adhesion focal tyrosine kinase 20211017 - 9606 2186 BPTF - FAC1|FALZ|NEDDFL|NURF301 MIM:601819|HGNC:HGNC:3581|Ensembl:ENSG00000171634 17 17q24.2 bromodomain PHD finger transcription factor protein-coding BPTF bromodomain PHD finger transcription factor O nucleosome-remodeling factor subunit BPTF|bromodomain and PHD domain transcription factor|bromodomain and PHD finger-containing transcription factor|fetal Alz-50 clone 1 protein|fetal Alz-50 reactive clone 1|fetal Alzheimer antigen|nucleosome remodeling factor, large subunit 20211003 - 9606 2187 FANCB - FA2|FAAP90|FAAP95|FAB|FACB MIM:300515|HGNC:HGNC:3583|Ensembl:ENSG00000181544 X Xp22.2 FA complementation group B protein-coding FANCB FA complementation group B O Fanconi anemia group B protein|Fanconi anemia complementation group B|Fanconi anemia-associated polypeptide of 95 kDa 20210708 - 9606 2188 FANCF - FAF MIM:613897|HGNC:HGNC:3587|Ensembl:ENSG00000183161 11 11p14.3 FA complementation group F protein-coding FANCF FA complementation group F O Fanconi anemia group F protein|Fanconi anemia complementation group F 20211017 - 9606 2189 FANCG - FAG|XRCC9 MIM:602956|HGNC:HGNC:3588|Ensembl:ENSG00000221829 9 9p13.3 FA complementation group G protein-coding FANCG FA complementation group G O Fanconi anemia group G protein|DNA repair protein XRCC9|Fanconi anemia complementation group G|X-ray repair complementing defective repair in Chinese hamster cells 9|X-ray repair, complementing defective, in Chinese hamster, 9|truncated Fanconi anemia group G protein 20210912 - 9606 2191 FAP - DPPIV|FAPA|FAPalpha|SIMP MIM:600403|HGNC:HGNC:3590|Ensembl:ENSG00000078098 2 2q24.2 fibroblast activation protein alpha protein-coding FAP fibroblast activation protein alpha O prolyl endopeptidase FAP|170 kDa melanoma membrane-bound gelatinase|dipeptidyl peptidase FAP|gelatine degradation protease FAP|integral membrane serine protease|post-proline cleaving enzyme|seprase|surface-expressed protease 20211016 - 9606 2192 FBLN1 - FBLN|FIBL1 MIM:135820|HGNC:HGNC:3600|Ensembl:ENSG00000077942 22 22q13.31 fibulin 1 protein-coding FBLN1 fibulin 1 O fibulin-1 20211003 - 9606 2193 FARSA - CML33|FARSL|FARSLA|FRSA|PheHA|RILDBC2 MIM:602918|HGNC:HGNC:3592|Ensembl:ENSG00000179115 19 19p13.13 phenylalanyl-tRNA synthetase subunit alpha protein-coding FARSA phenylalanyl-tRNA synthetase subunit alpha O phenylalanine--tRNA ligase alpha subunit|pheRS|phenylalanine tRNA ligase 1, alpha, cytoplasmic|phenylalanine--tRNA ligase alpha chain|phenylalanine-tRNA synthetase alpha-subunit|phenylalanine-tRNA synthetase-like, alpha subunit|phenylalanyl-tRNA synthetase alpha chain|phenylalanyl-tRNA synthetase alpha subunit|phenylalanyl-tRNA synthetase-like, alpha subunit 20211028 - 9606 2194 FASN - FAS|OA-519|SDR27X1 MIM:600212|HGNC:HGNC:3594|Ensembl:ENSG00000169710 17 17q25.3 fatty acid synthase protein-coding FASN fatty acid synthase O fatty acid synthase|short chain dehydrogenase/reductase family 27X, member 1|type I fatty acid synthase 20210919 - 9606 2195 FAT1 - CDHF7|CDHR8|FAT|ME5|hFat1 MIM:600976|HGNC:HGNC:3595|Ensembl:ENSG00000083857 4 4q35.2 FAT atypical cadherin 1 protein-coding FAT1 FAT atypical cadherin 1 O protocadherin Fat 1|FAT tumor suppressor 1|cadherin ME5|cadherin family member 7|cadherin-related family member 8|cadherin-related tumor suppressor homolog|protein fat homolog 20211017 - 9606 2196 FAT2 - CDHF8|CDHR9|HFAT2|MEGF1|SCA45 MIM:604269|HGNC:HGNC:3596|Ensembl:ENSG00000086570 5 5q33.1 FAT atypical cadherin 2 protein-coding FAT2 FAT atypical cadherin 2 O protocadherin Fat 2|FAT tumor suppressor homolog 2|cadherin family member 8|cadherin-related family member 9|multiple EGF-like domains protein 1|multiple epidermal growth factor-like domains 1|multiple epidermal growth factor-like domains protein 1|protocadherin FAT2 20210611 - 9606 2197 FAU - FAU1|Fub1|Fubi|MNSFbeta|RPS30|S30|asr1 MIM:134690|HGNC:HGNC:3597|Ensembl:ENSG00000149806 11 11q13.1 FAU ubiquitin like and ribosomal protein S30 fusion protein-coding FAU FAU ubiquitin like and ribosomal protein S30 fusion O ubiquitin-like protein fubi and ribosomal protein S30|40S ribosomal protein S30|FAU-encoded ubiquitin-like protein|FBR-MuSV-associated ubiquitously expressed|Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived)|monoclonal nonspecific suppressor factor beta|ribosomal protein S30|small ribosomal subunit protein eS30|ubiquitin-like-S30 fusion protein 20211031 - 9606 2199 FBLN2 - - MIM:135821|HGNC:HGNC:3601|Ensembl:ENSG00000163520 3 3p25.1 fibulin 2 protein-coding FBLN2 fibulin 2 O fibulin-2|FIBL-2 20211017 - 9606 2200 FBN1 - ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2 MIM:134797|HGNC:HGNC:3603|Ensembl:ENSG00000166147 15 15q21.1 fibrillin 1 protein-coding FBN1 fibrillin 1 O fibrillin-1|asprosin|epididymis secretory sperm binding protein|fibrillin 15|fibrillin-1 preproprotein 20211031 - 9606 2201 FBN2 - CCA|DA9|EOMD MIM:612570|HGNC:HGNC:3604|Ensembl:ENSG00000138829 5 5q23.3 fibrillin 2 protein-coding FBN2 fibrillin 2 O fibrillin-2|fibrillin 5 20210809 - 9606 2202 EFEMP1 - DHRD|DRAD|FBLN3|FBNL|FIBL-3|MLVT|MTLV|S1-5 MIM:601548|HGNC:HGNC:3218|Ensembl:ENSG00000115380 2 2p16.1 EGF containing fibulin extracellular matrix protein 1 protein-coding EFEMP1 EGF containing fibulin extracellular matrix protein 1 O EGF-containing fibulin-like extracellular matrix protein 1|EGF containing fibulin like extracellular matrix protein 1|extracellular protein S1-5|fibulin-3 20211026 - 9606 2203 FBP1 - FBP MIM:611570|HGNC:HGNC:3606|Ensembl:ENSG00000165140 9 9q22.32 fructose-bisphosphatase 1 protein-coding FBP1 fructose-bisphosphatase 1 O fructose-1,6-bisphosphatase 1|D-fructose-1,6-bisphosphate 1-phosphohydrolase 1|FBPase 1|growth-inhibiting protein 17|liver FBPase 20210919 - 9606 2204 FCAR - CD89|CTB-61M7.2|FcalphaR|FcalphaRI MIM:147045|HGNC:HGNC:3608|Ensembl:ENSG00000186431 19 19q13.42 Fc alpha receptor protein-coding FCAR Fc alpha receptor O immunoglobulin alpha Fc receptor|FCAR variant 14|Fc fragment of IgA receptor|Fc fragment of IgA, receptor for 20211104 - 9606 2205 FCER1A - FCE1A|FCERIA|FcERI MIM:147140|HGNC:HGNC:3609|Ensembl:ENSG00000179639 1 1q23.2 Fc epsilon receptor Ia protein-coding FCER1A Fc epsilon receptor Ia O high affinity immunoglobulin epsilon receptor subunit alpha|Fc IgE receptor, alpha polypeptide|Fc epsilon RI alpha-chain|Fc fragment of IgE receptor Ia|Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide|Fc-epsilon RI-alpha|FcepsilonRI alpha chain|FcepsilonRIalpha|high affinity immunoglobulin epsilon receptor alpha-subunit|igE Fc receptor subunit alpha|immunoglobulin E receptor, high-affinity, of mast cells, alpha polypeptide 20211105 - 9606 2206 MS4A2 - APY|ATOPY|FCER1B|FCERI|IGEL|IGER|IGHER MIM:147138|HGNC:HGNC:7316|Ensembl:ENSG00000149534 11 11q12.1 membrane spanning 4-domains A2 protein-coding MS4A2 membrane spanning 4-domains A2 O high affinity immunoglobulin epsilon receptor subunit beta|Fc fragment of IgE, high affinity I, receptor for; beta polypeptide|High affinity immunoglobulin epsilon receptor beta-subunit (FcERI) (IgE Fc receptor, beta-subunit) (Fc epsilon receptor I beta-chain)|high affinity IgE receptor beta subunit|igE Fc receptor subunit beta|immunoglobulin E receptor, high affinity, beta polypeptide|membrane-spanning 4-domains subfamily A member 2 20210908 - 9606 2207 FCER1G - FCRG MIM:147139|HGNC:HGNC:3611|Ensembl:ENSG00000158869 1 1q23.3 Fc epsilon receptor Ig protein-coding FCER1G Fc epsilon receptor Ig O high affinity immunoglobulin epsilon receptor subunit gamma|Fc fragment of IgE receptor Ig|Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide|Fc receptor gamma-chain|FcepsilonRI gamma chain|FcepsilonRIgamma|fc-epsilon RI-gamma|fcRgamma|fceRI gamma|immunoglobulin E receptor, high affinity, gamma chain 20211105 - 9606 2208 FCER2 - BLAST-2|CD23|CD23A|CLEC4J|FCE2|FCErII|IGEBF MIM:151445|HGNC:HGNC:3612|Ensembl:ENSG00000104921 19 19p13.2 Fc epsilon receptor II protein-coding FCER2 Fc epsilon receptor II O low affinity immunoglobulin epsilon Fc receptor|C-type lectin domain family 4, member J|CD23 antigen|Fc fragment of IgE receptor II|Fc fragment of IgE, low affinity II, receptor for (CD23)|FcepsilonRII|fc-epsilon-RII|immunoglobulin E-binding factor|immunoglobulin epsilon-chain|lymphocyte IgE receptor 20211105 - 9606 2209 FCGR1A - CD64|CD64A|FCG1|FCGR1|FCRI|FcgammaRI|IGFR1 MIM:146760|HGNC:HGNC:3613|Ensembl:ENSG00000150337 1 1q21.2 Fc gamma receptor Ia protein-coding FCGR1A Fc gamma receptor Ia O high affinity immunoglobulin gamma Fc receptor I|Fc fragment of IgG receptor Ia|Fc fragment of IgG, high affinity Ia, receptor (CD64)|Fc fragment of IgG, high affinity Ia, receptor for (CD64)|Fc-gamma RI|Fc-gamma receptor I A1|IgG Fc receptor I|fc-gamma RIA|fcgammaRIa 20211101 - 9606 2210 FCGR1BP - CD34|CD64b|FCG1|FCGR1|FCGR1B|FcRI|FcgammaRIa|IGFR1|IGFRB MIM:601502|HGNC:HGNC:3614|Ensembl:ENSG00000198019 1 1p11.2 Fc gamma receptor Ib, pseudogene pseudo FCGR1BP Fc gamma receptor Ib, pseudogene O Fc fragment of IgG receptor Ib|Fc fragment of IgG, high affinity Ib, receptor (CD64)|Fc gamma receptor Ib|Fc-gamma RI|Fc-gamma RIA|Fc-gamma receptor I B2|High affinity immunoglobulin gamma Fc receptor I|IgG Fc receptor I|fc-gamma RIB|fcRIB|hFcgammaRIB|high affinity immunoglobulin gamma Fc receptor IB|igG Fc receptor IB 20211103 - 9606 2212 FCGR2A - CD32|CD32A|CDw32|FCG2|FCGR2|FCGR2A1|FcGR|FcgammaRIIa|IGFR2 MIM:146790|HGNC:HGNC:3616|Ensembl:ENSG00000143226 1 1q23.3 Fc gamma receptor IIa protein-coding FCGR2A Fc gamma receptor IIa O low affinity immunoglobulin gamma Fc region receptor II-a|Fc fragment of IgG receptor IIa|Fc fragment of IgG, low affinity IIa, receptor (CD32)|Fc gamma receptor RIIa3|Immunoglobulin G Fc receptor II|fc-gamma-RIIa|fcRII-a|igG Fc receptor II-a 20211103 - 9606 2213 FCGR2B - CD32|CD32B|FCG2|FCGR2|FCGR2C|FcGRIIB|FcRII-c|FcgammaRIIb|IGFR2 MIM:604590|HGNC:HGNC:3618|Ensembl:ENSG00000072694 1 1q23.3 Fc gamma receptor IIb protein-coding FCGR2B Fc gamma receptor IIb O low affinity immunoglobulin gamma Fc region receptor II-b|CDw32|Fc fragment of IgG receptor IIb|Fc fragment of IgG, low affinity II, receptor for (CD32)|Fc fragment of IgG, low affinity IIb, receptor (CD32)|Fc fragment of IgG, low affinity IIb, receptor for (CD32)|Fc gamma RIIb|Fc-gamma RII-c|Fc-gamma-RIIc|IgG Fc receptor II-c|Low affinity immunoglobulin gamma Fc region receptor II-c|fc-gamma RII-b|fc-gamma-RIIb|fcRII-b|igG Fc receptor II-b 20211103 - 9606 2214 FCGR3A - CD16|CD16A|FCG3|FCGR3|FCGRIII|FCR-10|FCRIII|FCRIIIA|FcGRIIIA|IGFR3|IMD20 MIM:146740|HGNC:HGNC:3619|Ensembl:ENSG00000203747 1 1q23.3 Fc gamma receptor IIIa protein-coding FCGR3A Fc gamma receptor IIIa O low affinity immunoglobulin gamma Fc region receptor III-A|CD16a antigen|Fc fragment of IgG receptor IIIa|Fc fragment of IgG, low affinity III, receptor for (CD16)|Fc fragment of IgG, low affinity IIIa, receptor (CD16a)|Fc gamma receptor III-A|Fc-gamma RIII-alpha|Fc-gamma receptor III-2 (CD 16)|Fc-gamma receptor IIIb (CD16)|FcgammaRIIIA|igG Fc receptor III-2|immunoglobulin G Fc receptor III|low affinity immunoglobulin gamma receptor III-a Fc fragment|neutrophil-specific antigen NA 20211103 - 9606 2215 FCGR3B - CD16|CD16A|CD16b|FCG3|FCGR3|FCGR3A|FCR-10|FCRIII|FCRIIIb MIM:610665|HGNC:HGNC:3620|Ensembl:ENSG00000162747 1 1q23.3 Fc gamma receptor IIIb protein-coding FCGR3B Fc gamma receptor IIIb O low affinity immunoglobulin gamma Fc region receptor III-B|Fc fragment of IgG receptor IIIb|Fc fragment of IgG, low affinity IIIb, receptor (CD16b)|Fc gamma receptor III-B|Fc-gamma receptor IIIb (CD 16)|FcgammaRIIIb|fc-gamma RIII-beta|fc-gamma RIIIb|igG Fc receptor III-1 20211103 - 9606 2216 FDX1P2 - FDXP2 HGNC:HGNC:3641 21 21q21.3 ferredoxin 1 pseudogene 2 pseudo FDX1P2 ferredoxin 1 pseudogene 2 O adrenodoxin pseudogene|ferredoxin pseudogene 2 20210611 - 9606 2217 FCGRT - FCRN|alpha-chain MIM:601437|HGNC:HGNC:3621|Ensembl:ENSG00000104870 19 19q13.33 Fc fragment of IgG receptor and transporter protein-coding FCGRT Fc fragment of IgG receptor and transporter O IgG receptor FcRn large subunit p51|Fc fragment of IgG, receptor, transporter, alpha|FcRn alpha chain|IgG Fc fragment receptor transporter alpha chain|heavy chain of the major histocompatibility complex class I-like Fc receptor|immunoglobulin receptor, intestinal, heavy chain|major histocompatibility complex class I-like Fc receptor|neonatal Fc receptor|neonatal Fc-receptor for Ig|transmembrane alpha chain of the neonatal receptor 20210816 - 9606 2218 FKTN - CMD1X|FCMD|LGMD2M|LGMDR13|MDDGA4|MDDGB4|MDDGC4 MIM:607440|HGNC:HGNC:3622|Ensembl:ENSG00000106692 9 9q31.2 fukutin protein-coding FKTN fukutin O fukutin|Fukuyama type congenital muscular dystrophy protein|patient fukutin|ribitol-5-phosphate transferase 20211030 - 9606 2219 FCN1 - FCNM MIM:601252|HGNC:HGNC:3623|Ensembl:ENSG00000085265 9 9q34.3 ficolin 1 protein-coding FCN1 ficolin 1 O ficolin-1|M-ficolin|ficolin (collagen/fibrinogen domain-containing) 1|ficolin-A|ficolin-alpha 20210708 - 9606 2220 FCN2 - EBP-37|FCNL|P35|ficolin-2 MIM:601624|HGNC:HGNC:3624|Ensembl:ENSG00000160339 9 9q34.3 ficolin 2 protein-coding FCN2 ficolin 2 O ficolin-2|37 kDa elastin-binding protein|L-ficolin|collagen/fibrinogen domain-containing protein 2|ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin)|ficolin B|ficolin-beta|serum lectin p35 20211026 - 9606 2221 FCP1 - FCP|FCPX|HBFQTL3 MIM:305435 X Xp22.2 F-cell production 1 unknown - - - - 20191002 - 9606 2222 FDFT1 - DGPT|ERG9|SQS|SQSD|SS MIM:184420|HGNC:HGNC:3629|Ensembl:ENSG00000079459 8 8p23.1 farnesyl-diphosphate farnesyltransferase 1 protein-coding FDFT1 farnesyl-diphosphate farnesyltransferase 1 O squalene synthase|FPP:FPP farnesyltransferase|presqualene-di-diphosphate synthase|squalene synthetase 20210905 - 9606 2224 FDPS - FPPS|FPS|POROK9 MIM:134629|HGNC:HGNC:3631|Ensembl:ENSG00000160752 1 1q22 farnesyl diphosphate synthase protein-coding FDPS farnesyl diphosphate synthase O farnesyl pyrophosphate synthase|(2E,6E)-farnesyl diphosphate synthase|FPP synthase|FPP synthetase|farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase 20210708 - 9606 2227 FDPSP3 - FDPSL3|FPSL3 HGNC:HGNC:3634|Ensembl:ENSG00000258872 14 14q22.2 farnesyl diphosphate synthase pseudogene 3 pseudo FDPSP3 farnesyl diphosphate synthase pseudogene 3 O farnesyl diphosphate synthase-like 3 (farnesyl pyrophosphate synthetase-like 3) 20210611 - 9606 2228 FDPSP4 - CHR39B|FDPSL4|FPSL4 HGNC:HGNC:3635|Ensembl:ENSG00000254793 15 15q15.2 farnesyl diphosphate synthase pseudogene 4 pseudo FDPSP4 farnesyl diphosphate synthase pseudogene 4 O cholesterol-repressible protein 39B|farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase) pseudogene|farnesyl diphosphate synthase-like 4 (farnesyl pyrophosphate synthetase-like 4) 20210611 - 9606 2229 FDPSP5 - CHR39C|FDPSL5|FPSL5 HGNC:HGNC:3636|Ensembl:ENSG00000215035 X Xp11.3 farnesyl diphosphate synthase pseudogene 5 pseudo FDPSP5 farnesyl diphosphate synthase pseudogene 5 O cholesterol-repressible protein 39C|farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase) (FDPS) pseudogene|farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase) pseudogene|farnesyl diphosphate synthase-like 5 (farnesyl pyrophosphate synthetase-like 5) pseudogene 20210611 - 9606 2230 FDX1 - ADX|FDX|LOH11CR1D MIM:103260|HGNC:HGNC:3638|Ensembl:ENSG00000137714 11 11q22.3 ferredoxin 1 protein-coding FDX1 ferredoxin 1 O adrenodoxin, mitochondrial|adrenal ferredoxin|hepatoredoxin|mitochondrial adrenodoxin 20210906 - 9606 2231 FDX1P1 - ADXP1|FDXP1 HGNC:HGNC:3640 20 20q11.22 ferredoxin 1 pseudogene 1 pseudo FDX1P1 ferredoxin 1 pseudogene 1 O - 20210611 - 9606 2232 FDXR - ADR|ADXR|ANOA MIM:103270|HGNC:HGNC:3642|Ensembl:ENSG00000161513 17 17q25.1 ferredoxin reductase protein-coding FDXR ferredoxin reductase O NADPH:adrenodoxin oxidoreductase, mitochondrial|AR|adrenodoxin reductase|adrenodoxin-NADP(+) reductase|epididymis secretory sperm binding protein|ferredoxin--NADP(+) reductase 20211003 - 9606 2233 FEB1 - - MIM:121210 8 8q13-q21 febrile convulsions 1 unknown - - - - 20191002 - 9606 2234 FEB2 - - MIM:602477 19 19p13.3 febrile convulsions 2 unknown - - - - 20191002 - 9606 2235 FECH - EPP|EPP1|FCE MIM:612386|HGNC:HGNC:3647|Ensembl:ENSG00000066926 18 18q21.31 ferrochelatase protein-coding FECH ferrochelatase O ferrochelatase, mitochondrial|heme synthase|heme synthetase|protoheme ferro-lyase|protoporphyria 20210905 - 9606 2236 FECHP1 - FECHP HGNC:HGNC:3648 3 3p22.3 ferrochelatase pseudogene 1 pseudo FECHP1 ferrochelatase pseudogene 1 O ferrochelatase (protoporphyria) pseudogene 20210611 - 9606 2237 FEN1 - FEN-1|MF1|RAD2 MIM:600393|HGNC:HGNC:3650|Ensembl:ENSG00000168496 11 11q12.2 flap structure-specific endonuclease 1 protein-coding FEN1 flap structure-specific endonuclease 1 O flap endonuclease 1|DNase IV|maturation factor-1 20210912 - 9606 2239 GPC4 - K-glypican|KPTS MIM:300168|HGNC:HGNC:4452|Ensembl:ENSG00000076716 X Xq26.2 glypican 4 protein-coding GPC4 glypican 4 O glypican-4|dJ900E8.1 (glypican 4)|glypican proteoglycan 4 20210708 - 9606 2241 FER - PPP1R74|TYK3|p94-Fer MIM:176942|HGNC:HGNC:3655|Ensembl:ENSG00000151422 5 5q21.3 FER tyrosine kinase protein-coding FER FER tyrosine kinase O tyrosine-protein kinase Fer|feline encephalitis virus-related kinase FER|fer (fps/fes related) tyrosine kinase|fujinami poultry sarcoma/Feline sarcoma-related protein Fer|phosphoprotein NCP94|protein phosphatase 1, regulatory subunit 74|proto-oncogene c-Fer|tyrosine kinase 3 20210906 - 9606 2242 FES - FPS MIM:190030|HGNC:HGNC:3657|Ensembl:ENSG00000182511 15 15q26.1 FES proto-oncogene, tyrosine kinase protein-coding FES FES proto-oncogene, tyrosine kinase O tyrosine-protein kinase Fes/Fps|Oncogene FES, feline sarcoma virus|feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog|feline sarcoma oncogene|feline sarcoma/Fujinami avian sarcoma oncogene homolog|p93c-fes|proto-oncogene c-Fes|proto-oncogene c-Fps|proto-oncogene tyrosine-protein kinase Fes/Fps 20210708 - 9606 2243 FGA - Fib2 MIM:134820|HGNC:HGNC:3661|Ensembl:ENSG00000171560 4 4q31.3 fibrinogen alpha chain protein-coding FGA fibrinogen alpha chain O fibrinogen alpha chain|fibrinogen, A alpha polypeptide 20211026 - 9606 2244 FGB - HEL-S-78p MIM:134830|HGNC:HGNC:3662|Ensembl:ENSG00000171564 4 4q31.3 fibrinogen beta chain protein-coding FGB fibrinogen beta chain O fibrinogen beta chain|beta-fibrinogen|epididymis secretory sperm binding protein Li 78p|fibrinogen, B beta polypeptide 20211017 - 9606 2245 FGD1 - AAS|FGDY|MRXS16|ZFYVE3 MIM:300546|HGNC:HGNC:3663|Ensembl:ENSG00000102302 X Xp11.22 FYVE, RhoGEF and PH domain containing 1 protein-coding FGD1 FYVE, RhoGEF and PH domain containing 1 O FYVE, RhoGEF and PH domain-containing protein 1|faciogenital dysplasia 1 protein|rho/Rac GEF|rho/Rac guanine nucleotide exchange factor FGD1|zinc finger FYVE domain-containing protein 3 20210708 - 9606 2246 FGF1 - AFGF|ECGF|ECGF-beta|ECGFA|ECGFB|FGF-1|FGF-alpha|FGFA|GLIO703|HBGF-1|HBGF1 MIM:131220|HGNC:HGNC:3665|Ensembl:ENSG00000113578 5 5q31.3 fibroblast growth factor 1 protein-coding FGF1 fibroblast growth factor 1 O fibroblast growth factor 1|beta-endothelial cell growth factor|endothelial cell growth factor, alpha|endothelial cell growth factor, beta|fibroblast growth factor 1 (acidic)|heparin-binding growth factor 1 20211017 - 9606 2247 FGF2 - BFGF|FGF-2|FGFB|HBGF-2 MIM:134920|HGNC:HGNC:3676|Ensembl:ENSG00000138685 4 4q28.1 fibroblast growth factor 2 protein-coding FGF2 fibroblast growth factor 2 O fibroblast growth factor 2|basic fibroblast growth factor bFGF|fibroblast growth factor 2 (basic)|heparin-binding growth factor 2|prostatropin 20211031 - 9606 2248 FGF3 - HBGF-3|INT2 MIM:164950|HGNC:HGNC:3681|Ensembl:ENSG00000186895 11 11q13.3 fibroblast growth factor 3 protein-coding FGF3 fibroblast growth factor 3 O fibroblast growth factor 3|FGF-3|INT-2 proto-oncogene protein|V-INT2 murine mammary tumor virus integration site oncogene homolog|fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)|heparin-binding growth factor 3|murine mammary tumor virus integration site 2, mouse|oncogene INT2|proto-oncogene Int-2 20210708 - 9606 2249 FGF4 - FGF-4|HBGF-4|HST|HST-1|HSTF-1|HSTF1|K-FGF|KFGF MIM:164980|HGNC:HGNC:3682|Ensembl:ENSG00000075388 11 11q13.3 fibroblast growth factor 4 protein-coding FGF4 fibroblast growth factor 4 O fibroblast growth factor 4|heparin secretory transforming protein 1|heparin-binding growth factor 4|human stomach cancer, transforming factor from FGF-related oncogene|kaposi sarcoma oncogene|oncogene HST|transforming protein KS3 20210906 - 9606 2250 FGF5 - HBGF-5|Smag-82|TCMGLY MIM:165190|HGNC:HGNC:3683|Ensembl:ENSG00000138675 4 4q21.21 fibroblast growth factor 5 protein-coding FGF5 fibroblast growth factor 5 O fibroblast growth factor 5|heparin-binding growth factor 5 20210919 - 9606 2251 FGF6 - HBGF-6|HST2 MIM:134921|HGNC:HGNC:3684|Ensembl:ENSG00000111241 12 12p13.32 fibroblast growth factor 6 protein-coding FGF6 fibroblast growth factor 6 O fibroblast growth factor 6|FGF-6|HST-2|HSTF-2|heparin secretory-transforming protein 2|heparin-binding growth factor 6 20210708 - 9606 2252 FGF7 - HBGF-7|KGF MIM:148180|HGNC:HGNC:3685|Ensembl:ENSG00000140285 15 15q21.2 fibroblast growth factor 7 protein-coding FGF7 fibroblast growth factor 7 O fibroblast growth factor 7|FGF-7|heparin-binding growth factor 7|keratinocyte growth factor 20210919 - 9606 2253 FGF8 - AIGF|FGF-8|HBGF-8|HH6|KAL6 MIM:600483|HGNC:HGNC:3686|Ensembl:ENSG00000107831 10 10q24.32 fibroblast growth factor 8 protein-coding FGF8 fibroblast growth factor 8 O fibroblast growth factor 8|androgen-induced growth factor|fibroblast growth factor 8 (androgen-induced)|heparin-binding growth factor 8 20210926 - 9606 2254 FGF9 - FGF-9|GAF|HBFG-9|HBGF-9|SYNS3 MIM:600921|HGNC:HGNC:3687|Ensembl:ENSG00000102678 13 13q12.11 fibroblast growth factor 9 protein-coding FGF9 fibroblast growth factor 9 O fibroblast growth factor 9|fibroblast growth factor 9 (glia-activating factor)|heparin-binding growth factor 9 20210919 - 9606 2255 FGF10 - - MIM:602115|HGNC:HGNC:3666|Ensembl:ENSG00000070193 5 5p12 fibroblast growth factor 10 protein-coding FGF10 fibroblast growth factor 10 O fibroblast growth factor 10|FGF-10|keratinocyte growth factor 2|produced by fibroblasts of urinary bladder lamina propria 20210708 - 9606 2256 FGF11 - FGF-11|FHF-3|FHF3 MIM:601514|HGNC:HGNC:3667|Ensembl:ENSG00000161958 17 17p13.1 fibroblast growth factor 11 protein-coding FGF11 fibroblast growth factor 11 O fibroblast growth factor 11|fibroblast growth factor homologous factor 3 20210919 - 9606 2257 FGF12 - DEE47|EIEE47|FGF12B|FHF1 MIM:601513|HGNC:HGNC:3668|Ensembl:ENSG00000114279 3 3q28-q29 fibroblast growth factor 12 protein-coding FGF12 fibroblast growth factor 12 O fibroblast growth factor 12|fibroblast growth factor 12B|fibroblast growth factor FGF-12b|fibroblast growth factor homologous factor 1|myocyte-activating factor 20211017 - 9606 2258 FGF13 - DEE90|FGF-13|FGF2|FHF-2|FHF2|LINC00889 MIM:300070|HGNC:HGNC:3670|Ensembl:ENSG00000129682 X Xq26.3-q27.1 fibroblast growth factor 13 protein-coding FGF13 fibroblast growth factor 13 O fibroblast growth factor 13|fibroblast growth factor homologous factor 2 20211026 - 9606 2259 FGF14 - FGF-14|FHF-4|FHF4|SCA27 MIM:601515|HGNC:HGNC:3671|Ensembl:ENSG00000102466 13 13q33.1 fibroblast growth factor 14 protein-coding FGF14 fibroblast growth factor 14 O fibroblast growth factor 14|fibroblast growth factor homologous factor 4 20211026 - 9606 2260 FGFR1 - BFGFR|CD331|CEK|ECCL|FGFBR|FGFR-1|FLG|FLT-2|FLT2|HBGFR|HH2|HRTFDS|KAL2|N-SAM|OGD|bFGF-R-1 MIM:136350|HGNC:HGNC:3688|Ensembl:ENSG00000077782 8 8p11.23 fibroblast growth factor receptor 1 protein-coding FGFR1 fibroblast growth factor receptor 1 O fibroblast growth factor receptor 1|FGFR1/PLAG1 fusion|FMS-like tyrosine kinase 2|basic fibroblast growth factor receptor 1|fms-related tyrosine kinase 2|heparin-binding growth factor receptor|hydroxyaryl-protein kinase|proto-oncogene c-Fgr 20211031 - 9606 2261 FGFR3 - ACH|CD333|CEK2|HSFGFR3EX|JTK4 MIM:134934|HGNC:HGNC:3690|Ensembl:ENSG00000068078 4 4p16.3 fibroblast growth factor receptor 3 protein-coding FGFR3 fibroblast growth factor receptor 3 O fibroblast growth factor receptor 3|FGFR-3|fibroblast growth factor receptor 3 variant 4|fibroblast growth factor receptor 3-S|hydroxyaryl-protein kinase|tyrosine kinase JTK4 20211106 - 9606 2262 GPC5 - - MIM:602446|HGNC:HGNC:4453|Ensembl:ENSG00000179399 13 13q31.3 glypican 5 protein-coding GPC5 glypican 5 O glypican-5|bA93M14.1|glypican proteoglycan 5 20210711 - 9606 2263 FGFR2 - BBDS|BEK|BFR-1|CD332|CEK3|CFD1|ECT1|JWS|K-SAM|KGFR|TK14|TK25 MIM:176943|HGNC:HGNC:3689|Ensembl:ENSG00000066468 10 10q26.13 fibroblast growth factor receptor 2 protein-coding FGFR2 fibroblast growth factor receptor 2 O fibroblast growth factor receptor 2|BEK fibroblast growth factor receptor|bacteria-expressed kinase|keratinocyte growth factor receptor|protein tyrosine kinase, receptor like 14 20211017 - 9606 2264 FGFR4 - CD334|JTK2|TKF MIM:134935|HGNC:HGNC:3691|Ensembl:ENSG00000160867 5 5q35.2 fibroblast growth factor receptor 4 protein-coding FGFR4 fibroblast growth factor receptor 4 O fibroblast growth factor receptor 4|hydroxyaryl-protein kinase|protein-tyrosine kinase|tyrosine kinase related to fibroblast growth factor receptor|tyrosylprotein kinase 20210926 - 9606 2266 FGG - - MIM:134850|HGNC:HGNC:3694|Ensembl:ENSG00000171557 4 4q32.1 fibrinogen gamma chain protein-coding FGG fibrinogen gamma chain O fibrinogen gamma chain|fibrinogen, gamma polypeptide|testicular tissue protein Li 70 20210906 - 9606 2267 FGL1 - HFREP1|HP-041|HPS|LFIRE-1|LFIRE1 MIM:605776|HGNC:HGNC:3695|Ensembl:ENSG00000104760 8 8p22 fibrinogen like 1 protein-coding FGL1 fibrinogen like 1 O fibrinogen-like protein 1|hepassocin|hepatocellular carcinoma-related sequence|hepatocyte-derived fibrinogen-related protein 1|liver fibrinogen-related protein 1 20211017 - 9606 2268 FGR - SRC2|c-fgr|c-src2|p55-Fgr|p55c-fgr|p58-Fgr|p58c-fgr MIM:164940|HGNC:HGNC:3697|Ensembl:ENSG00000000938 1 1p35.3 FGR proto-oncogene, Src family tyrosine kinase protein-coding FGR FGR proto-oncogene, Src family tyrosine kinase O tyrosine-protein kinase Fgr|Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog|c-fgr protooncogene|c-src-2 proto-oncogene|feline Gardner-Rasheed sarcoma viral oncogene homolog|p55-c-fgr protein|proto-oncogene c-Fgr|proto-oncogene tyrosine-protein kinase FGR|v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog 20210708 - 9606 2270 FGS2 - - MIM:300321 X Xq11-q28 FG syndrome 2 unknown - - - - 20191002 - 9606 2271 FH - FMRD|HLRCC|HsFH|LRCC|MCL|MCUL1 MIM:136850|HGNC:HGNC:3700|Ensembl:ENSG00000091483 1 1q43 fumarate hydratase protein-coding FH fumarate hydratase O fumarate hydratase, mitochondrial|epididymis secretory sperm binding protein|fumarase 20210912 - 9606 2272 FHIT - AP3Aase|FRA3B MIM:601153|HGNC:HGNC:3701|Ensembl:ENSG00000189283 3 3p14.2 fragile histidine triad diadenosine triphosphatase protein-coding FHIT fragile histidine triad diadenosine triphosphatase O bis(5'-adenosyl)-triphosphatase|AP3A hydrolase|diadenosine 5',5'''-P1,P3-triphosphate hydrolase|dinucleosidetriphosphatase 20211026 - 9606 2273 FHL1 - FCMSU|FHL-1|FHL1A|FHL1B|FLH1A|KYOT|RBMX1A|RBMX1B|SLIM|SLIM-1|SLIM1|SLIMMER|XMPMA MIM:300163|HGNC:HGNC:3702|Ensembl:ENSG00000022267 X Xq26.3 four and a half LIM domains 1 protein-coding FHL1 four and a half LIM domains 1 O four and a half LIM domains protein 1|LIM protein SLIMMER|four-and-a-half Lin11, Isl-1 and Mec-3 domains 1|skeletal muscle LIM-protein 1 20210711 - 9606 2274 FHL2 - AAG11|DRAL|FHL-2|SLIM-3|SLIM3 MIM:602633|HGNC:HGNC:3703|Ensembl:ENSG00000115641 2 2q12.2 four and a half LIM domains 2 protein-coding FHL2 four and a half LIM domains 2 O four and a half LIM domains protein 2|LIM domain protein DRAL|aging-associated gene 11|down-regulated in rhabdomyosarcoma LIM protein|skeletal muscle LIM-protein 3 20211017 - 9606 2275 FHL3 - SLIM2 MIM:602790|HGNC:HGNC:3704|Ensembl:ENSG00000183386 1 1p34.3 four and a half LIM domains 3 protein-coding FHL3 four and a half LIM domains 3 O four and a half LIM domains protein 3|FHL-3|LIM-only protein FHL3|SLIM-2|skeletal muscle LIM-protein 2 20210905 - 9606 2277 VEGFD - FIGF|VEGF-D MIM:300091|HGNC:HGNC:3708|Ensembl:ENSG00000165197 X Xp22.2 vascular endothelial growth factor D protein-coding VEGFD vascular endothelial growth factor D O vascular endothelial growth factor D|c-fos induced growth factor (vascular endothelial growth factor D) 20210822 - 9606 2278 FIM1 - - - 6 6p23-p22.3 Friend-murine leukemia virus integration site 1 homolog other - - - - 20190324 - 9606 2279 FIM3 - - - 3 3q27 Friend-murine leukemia virus integration site 3 homolog other - - - - 20190324 - 9606 2280 FKBP1A - FKBP-12|FKBP-1A|FKBP1|FKBP12|PKC12|PKCI2|PPIASE MIM:186945|HGNC:HGNC:3711|Ensembl:ENSG00000088832 20 20p13 FKBP prolyl isomerase 1A protein-coding FKBP1A FKBP prolyl isomerase 1A O peptidyl-prolyl cis-trans isomerase FKBP1A|12 kDa FK506-binding protein|12 kDa FKBP|FK506 binding protein 1A, 12kDa|FK506 binding protein12|FK506-binding protein 1|FK506-binding protein 12|FK506-binding protein 1A|FK506-binding protein, T-cell, 12-kD|FKBP12-Exip3|PPIase FKBP1A|calstabin-1|immunophilin FKBP12|protein kinase C inhibitor 2|rotamase 20210911 - 9606 2281 FKBP1B - FKBP12.6|FKBP1L|OTK4|PKBP1L|PPIase MIM:600620|HGNC:HGNC:3712|Ensembl:ENSG00000119782 2 2p23.3 FKBP prolyl isomerase 1B protein-coding FKBP1B FKBP prolyl isomerase 1B O peptidyl-prolyl cis-trans isomerase FKBP1B|12.6 kDa FK506-binding protein|12.6 kDa FKBP|FK506 binding protein 1B, 12.6 kDa|FK506-binding protein 12.6|FK506-binding protein 1B|FKBP-12.6|FKBP-1B|PPIase FKBP1B|calstabin 2|h-FKBP-12|immunophilin FKBP12.6|rotamase 20210708 - 9606 2282 FKBP1AP1 - FKBP12|FKBP1P1 HGNC:HGNC:3714 19 19q13.43 FKBP prolyl isomerase 1A pseudogene 1 pseudo FKBP1AP1 FKBP prolyl isomerase 1A pseudogene 1 O FK506 binding protein 1 pseudogene 1|FK506 binding protein 1A pseudogene 1|FK506 binding protein 1A, 12kDa pseudogene 1 20210724 - 9606 2283 FKBP1AP2 - FKBP12|FKBP1P2 HGNC:HGNC:3715 15 15q24.1 FKBP prolyl isomerase 1A pseudogene 2 pseudo FKBP1AP2 FKBP prolyl isomerase 1A pseudogene 2 O FK506 binding protein 1 pseudogene 2|FK506 binding protein 1A pseudogene 2|FK506 binding protein 1A, 12kDa pseudogene 2 20210611 - 9606 2284 FKBP1AP3 - FKBP12|FKBP1P3 HGNC:HGNC:3716 13 13q14.13 FKBP prolyl isomerase 1A pseudogene 3 pseudo FKBP1AP3 FKBP prolyl isomerase 1A pseudogene 3 O FK506 binding protein 1 pseudogene 3|FK506 binding protein 1A pseudogene 3|FK506 binding protein 1A, 12kDa pseudogene 3 20210611 - 9606 2285 FKBP1AP4 - FKBP12|FKBP1P4 HGNC:HGNC:3717 3 3q25.1 FKBP prolyl isomerase 1A pseudogene 4 pseudo FKBP1AP4 FKBP prolyl isomerase 1A pseudogene 4 O FK506 binding protein 1 pseudogene 4|FK506 binding protein 1A pseudogene 4|FK506 binding protein 1A, 12kDa pseudogene 4|WD repeat domain 70 pseudogene 20210611 - 9606 2286 FKBP2 - FKBP-13|FKBP13|PPIase MIM:186946|HGNC:HGNC:3718|Ensembl:ENSG00000173486 11 11q13.1 FKBP prolyl isomerase 2 protein-coding FKBP2 FKBP prolyl isomerase 2 O peptidyl-prolyl cis-trans isomerase FKBP2|13 kDa FK506-binding protein|13 kDa FKBP|FK506 binding protein 2, 13kDa|FK506-binding protein 2|PPIase FKBP2|epididymis secretory sperm binding protein|immunophilin FKBP13|proline isomerase|rapamycin-binding protein|rotamase 20210814 - 9606 2287 FKBP3 - FKBP-25|FKBP-3|FKBP25|PPIase MIM:186947|HGNC:HGNC:3719|Ensembl:ENSG00000100442 14 14q21.2 FKBP prolyl isomerase 3 protein-coding FKBP3 FKBP prolyl isomerase 3 O peptidyl-prolyl cis-trans isomerase FKBP3|25 kDa FK506-binding protein|25 kDa FKBP|FK506 binding protein 3, 25kDa|FK506-binding protein 25, T-cell|FK506-binding protein 3|PPIase FKBP3|immunophilin FKBP25|rapamycin binding protein|rapamycin-selective 25 kDa immunophilin|rotamase 20210905 - 9606 2288 FKBP4 - FKBP51|FKBP52|FKBP59|HBI|Hsp56|PPIase|p52 MIM:600611|HGNC:HGNC:3720|Ensembl:ENSG00000004478 12 12p13.33 FKBP prolyl isomerase 4 protein-coding FKBP4 FKBP prolyl isomerase 4 O peptidyl-prolyl cis-trans isomerase FKBP4|FK506 binding protein 4, 59kDa|HSP binding immunophilin|T-cell FK506-binding protein, 59kD|peptidylprolyl cis-trans isomerase|rotamase 20211031 - 9606 2289 FKBP5 - AIG6|FKBP51|FKBP54|P54|PPIase|Ptg-10 MIM:602623|HGNC:HGNC:3721|Ensembl:ENSG00000096060 6 6p21.31 FKBP prolyl isomerase 5 protein-coding FKBP5 FKBP prolyl isomerase 5 O peptidyl-prolyl cis-trans isomerase FKBP5|51 kDa FK506-binding protein|51 kDa FKBP|54 kDa progesterone receptor-associated immunophilin|FF1 antigen|FK506 binding protein 5|FKBP-51|HSP90-binding immunophilin|PPIase FKBP5|T-cell FK506-binding protein|androgen-regulated protein 6|peptidylprolyl cis-trans isomerase|rotamase 20211106 - 9606 2290 FOXG1 - BF1|BF2|FHKL3|FKH2|FKHL1|FKHL2|FKHL3|FKHL4|FOXG1A|FOXG1B|FOXG1C|HBF-1|HBF-2|HBF-3|HBF-G2|HBF2|HFK1|HFK2|HFK3|KHL2|QIN MIM:164874|HGNC:HGNC:3811|Ensembl:ENSG00000176165 14 14q12 forkhead box G1 protein-coding FOXG1 forkhead box G1 O forkhead box protein G1|brain factor 1|brain factor 2|forkhead-like 1|forkhead-like 2|forkhead-like 3|forkhead-like 4|oncogene QIN 20210822 - 9606 2294 FOXF1 - ACDMPV|FKHL5|FREAC1 MIM:601089|HGNC:HGNC:3809|Ensembl:ENSG00000103241 16 16q24.1 forkhead box F1 protein-coding FOXF1 forkhead box F1 O forkhead box protein F1|FREAC-1|Forkhead, drosophila, homolog-like 5|forkhead-related activator 1|forkhead-related protein FKHL5|forkhead-related transcription factor 1 20211017 - 9606 2295 FOXF2 - FKHL6|FREAC-2|FREAC2 MIM:603250|HGNC:HGNC:3810|Ensembl:ENSG00000137273 6 6p25.3 forkhead box F2 protein-coding FOXF2 forkhead box F2 O forkhead box protein F2|forkhead-like 6|forkhead-related activator 2|forkhead-related protein FKHL6|forkhead-related transcription factor 2 20210906 - 9606 2296 FOXC1 - ARA|ASGD3|FKHL7|FREAC-3|FREAC3|IGDA|IHG1|IRID1|RIEG3 MIM:601090|HGNC:HGNC:3800|Ensembl:ENSG00000054598 6 6p25.3 forkhead box C1 protein-coding FOXC1 forkhead box C1 O forkhead box protein C1|forkhead box C1 protein|forkhead, drosophila, homolog-like 7|forkhead-related activator 3|forkhead-related protein FKHL7|forkhead-related transcription factor 3|forkhead/winged helix-like transcription factor 7|myeloid factor-delta 20211031 - 9606 2297 FOXD1 - FKHL8|FREAC-4|FREAC4 MIM:601091|HGNC:HGNC:3802|Ensembl:ENSG00000251493 5 5q13.2 forkhead box D1 protein-coding FOXD1 forkhead box D1 O forkhead box protein D1|Forkhead, drosophila, homolog-like 8|forkhead-like 8|forkhead-related activator 4|forkhead-related protein FKHL8|forkhead-related transcription factor 4 20210912 - 9606 2298 FOXD4 - FKHL9|FOXD4A|FREAC-5|FREAC5 MIM:601092|HGNC:HGNC:3805|Ensembl:ENSG00000170122 9 9p24.3 forkhead box D4 protein-coding FOXD4 forkhead box D4 O forkhead box protein D4|forkhead, Drosophila, homolog-like 9|forkhead-related activator 5|forkhead-related protein FKHL9|forkhead-related transcription factor 5|myeloid factor-alpha 20210611 - 9606 2299 FOXI1 - FKH10|FKHL10|FREAC-6|FREAC6|HFH-3|HFH3 MIM:601093|HGNC:HGNC:3815|Ensembl:ENSG00000168269 5 5q35.1 forkhead box I1 protein-coding FOXI1 forkhead box I1 O forkhead box protein I1|HNF-3/fork-head homolog-3|forkhead-like 10|forkhead-related activator 6|forkhead-related protein FKHL10|forkhead-related transcription factor 6|hepatocyte nuclear factor 3 forkhead homolog 3 20210611 - 9606 2300 FOXL1 - FKH6|FKHL11|FREAC7 MIM:603252|HGNC:HGNC:3817|Ensembl:ENSG00000176678 16 16q24.1 forkhead box L1 protein-coding FOXL1 forkhead box L1 O forkhead box protein L1|forkhead-like 11|forkhead-related protein FKHL11|forkhead-related transcription factor 7 20210912 - 9606 2301 FOXE3 - AAT11|ASGD2|CTRCT34|FKHL12|FREAC8 MIM:601094|HGNC:HGNC:3808|Ensembl:ENSG00000186790 1 1p33 forkhead box E3 protein-coding FOXE3 forkhead box E3 O forkhead box protein E3|FREAC-8|forkhead, drosophila, homolog-like 12|forkhead-related protein FKHL12|forkhead-related transcription factor 8 20210611 - 9606 2302 FOXJ1 - CILD43|FKHL13|HFH-4|HFH4 MIM:602291|HGNC:HGNC:3816|Ensembl:ENSG00000129654 17 17q25.1 forkhead box J1 protein-coding FOXJ1 forkhead box J1 O forkhead box protein J1|fork head homologue 4|forkhead transcription factor HFH-4|forkhead-like 13|forkhead-related protein FKHL13|hepatocyte nuclear factor 3 forkhead homolog 4 20210906 - 9606 2303 FOXC2 - FKHL14|LD|MFH-1|MFH1 MIM:602402|HGNC:HGNC:3801|Ensembl:ENSG00000176692 16 16q24.1 forkhead box C2 protein-coding FOXC2 forkhead box C2 O forkhead box protein C2|MFH-1,mesenchyme forkhead 1|forkhead box C2 (MFH-1, mesenchyme forkhead 1)|forkhead, Drosophila, homolog-like 14|forkhead-related protein FKHL14|mesenchyme fork head protein 1|mesenchyme forkhead 1|transcription factor FKH-14 20211026 - 9606 2304 FOXE1 - FKHL15|FOXE2|HFKH4|HFKL5|NMTC4|TITF2|TTF-2|TTF2 MIM:602617|HGNC:HGNC:3806|Ensembl:ENSG00000178919 9 9q22.33 forkhead box E1 protein-coding FOXE1 forkhead box E1 O forkhead box protein E1|HNF-3/fork head-like protein 5|forkhead box protein E2|forkhead, drosophila, homolog-like 15|forkhead-related protein FKHL15|thyroid transcription factor 2 20210802 - 9606 2305 FOXM1 - FKHL16|FOXM1A|FOXM1B|FOXM1C|HFH-11|HFH11|HNF-3|INS-1|MPHOSPH2|MPP-2|MPP2|PIG29|TRIDENT MIM:602341|HGNC:HGNC:3818|Ensembl:ENSG00000111206 12 12p13.33 forkhead box M1 protein-coding FOXM1 forkhead box M1 O forkhead box protein M1|Forkhead, drosophila, homolog-like 16|HNF-3/fork-head homolog 11|M-phase phosphoprotein 2|MPM-2 reactive phosphoprotein 2|forkhead box M1-D|forkhead-related protein FKHL16|hepatocyte nuclear factor 3 forkhead homolog 11|transcription factor Trident|winged-helix factor from INS-1 cells 20211031 - 9606 2306 FOXD2 - FKHL17|FREAC-9|FREAC9 MIM:602211|HGNC:HGNC:3803|Ensembl:ENSG00000186564 1 1p33 forkhead box D2 protein-coding FOXD2 forkhead box D2 O forkhead box protein D2|forkhead, drosophila, homolog-like 17|forkhead-like 17|forkhead-related activator 9|forkhead-related protein FKHL17|forkhead-related transcription factor 9 20210705 - 9606 2307 FOXS1 - FKHL18|FREAC10 MIM:602939|HGNC:HGNC:3735|Ensembl:ENSG00000179772 20 20q11.21 forkhead box S1 protein-coding FOXS1 forkhead box S1 O forkhead box protein S1|FREAC-10|forkhead-like 18 protein|forkhead-related activator 10|forkhead-related transcription factor 10|forkhead-related transcription factor FREAC-10 20210611 - 9606 2308 FOXO1 - FKH1|FKHR|FOXO1A MIM:136533|HGNC:HGNC:3819|Ensembl:ENSG00000150907 13 13q14.11 forkhead box O1 protein-coding FOXO1 forkhead box O1 O forkhead box protein O1|forkhead box protein O1A|forkhead, Drosophila, homolog of, in rhabdomyosarcoma 20211017 - 9606 2309 FOXO3 - AF6q21|FKHRL1|FKHRL1P2|FOXO2|FOXO3A MIM:602681|HGNC:HGNC:3821|Ensembl:ENSG00000118689 6 6q21 forkhead box O3 protein-coding FOXO3 forkhead box O3 O forkhead box protein O3|FOXO3A-|forkhead box O3A|forkhead homolog (rhabdomyosarcoma) like 1|forkhead in rhabdomyosarcoma-like 1|forkhead, Drosophila, homolog of, in rhabdomyosarcoma-like 1 20211031 - 9606 2310 FOXO3B - FKHRL1P1|ZNF286C HGNC:HGNC:3822|Ensembl:ENSG00000240445 17 17p11.2 forkhead box O3B protein-coding FOXO3B forkhead box O3B O forkhead box protein O3B|forkhead box O3B (pseudogene)|forkhead(Drosophila) homolog (rhabdomyosarcoma) 1 like pseudogene 1 20210611 - 9606 2311 FOXO1B - FKHRP1 HGNC:HGNC:3820|Ensembl:ENSG00000214295 5 5q35.3 forkhead box O1B (pseudogene) pseudo FOXO1B forkhead box O1B (pseudogene) O forkhead homolog (rhabdomyosarcoma) pseudogene 1 20210611 - 9606 2312 FLG - ATOD2 MIM:135940|HGNC:HGNC:3748|Ensembl:ENSG00000143631 1 1q21.3 filaggrin protein-coding FLG filaggrin O filaggrin|epidermal filaggrin 20211031 - 9606 2313 FLI1 - BDPLT21|EWSR2|SIC-1 MIM:193067|HGNC:HGNC:3749|Ensembl:ENSG00000151702 11 11q24.3 Fli-1 proto-oncogene, ETS transcription factor protein-coding FLI1 Fli-1 proto-oncogene, ETS transcription factor O Friend leukemia integration 1 transcription factor|Ewing sarcoma breakpoint region 2|Friend leukemia virus integration 1|transcription factor ERGB 20210912 - 9606 2314 FLII - FLI|FLIL|Fli1 MIM:600362|HGNC:HGNC:3750|Ensembl:ENSG00000177731 17 17p11.2 FLII actin remodeling protein protein-coding FLII FLII actin remodeling protein O protein flightless-1 homolog|flightless I actin binding protein|flightless I homolog 20210912 - 9606 2315 MLANA - MART-1|MART1 MIM:605513|HGNC:HGNC:7124|Ensembl:ENSG00000120215 9 9p24.1 melan-A protein-coding MLANA melan-A O melanoma antigen recognized by T-cells 1|antigen LB39-AA|antigen SK29-AA|epididymis secretory sperm binding protein|protein Melan-A 20210611 - 9606 2316 FLNA - ABP-280|ABPX|CSBS|CVD1|FGS2|FLN|FLN-A|FLN1|FMD|MNS|NHBP|OPD|OPD1|OPD2|XLVD|XMVD MIM:300017|HGNC:HGNC:3754|Ensembl:ENSG00000196924 X Xq28 filamin A protein-coding FLNA filamin A O filamin-A|actin binding protein 280|alpha-filamin|endothelial actin-binding protein|epididymis secretory sperm binding protein|filamin A, alpha|filamin-1|non-muscle filamin 20211016 - 9606 2317 FLNB - ABP-278|ABP-280|AOI|FH1|FLN-B|FLN1L|LRS1|SCT|TABP|TAP MIM:603381|HGNC:HGNC:3755|Ensembl:ENSG00000136068 3 3p14.3 filamin B protein-coding FLNB filamin B O filamin-B|ABP-280 homolog|Larsen syndrome 1 (autosomal dominant)|actin binding protein 278|actin-binding-like protein|beta-filamin|filamin B, beta|filamin homolog 1|filamin-3|thyroid autoantigen 20210905 - 9606 2318 FLNC - ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5 MIM:102565|HGNC:HGNC:3756|Ensembl:ENSG00000128591 7 7q32.1 filamin C protein-coding FLNC filamin C O filamin-C|ABP-280-like protein|ABP-L, gamma filamin|actin binding protein 280|filamin C, gamma|filamin-2|gamma filamin 20211026 - 9606 2319 FLOT2 - ECS-1|ECS1|ESA|ESA1|M17S1 MIM:131560|HGNC:HGNC:3758|Ensembl:ENSG00000132589 17 17q11.2 flotillin 2 protein-coding FLOT2 flotillin 2 O flotillin-2|Flotillin 2 (epidermal surface antigen 1)|epidermal surface antigen|membrane component chromosome 17 surface marker 1|membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1) 20210912 - 9606 2321 FLT1 - FLT|FLT-1|VEGFR-1|VEGFR1 MIM:165070|HGNC:HGNC:3763|Ensembl:ENSG00000102755 13 13q12.3 fms related receptor tyrosine kinase 1 protein-coding FLT1 fms related receptor tyrosine kinase 1 O vascular endothelial growth factor receptor 1|fms related tyrosine kinase 1|fms-like tyrosine kinase 1|fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)|tyrosine-protein kinase FRT|tyrosine-protein kinase receptor FLT|vascular permeability factor receptor 20211031 - 9606 2322 FLT3 - CD135|FLK-2|FLK2|STK1 MIM:136351|HGNC:HGNC:3765|Ensembl:ENSG00000122025 13 13q12.2 fms related receptor tyrosine kinase 3 protein-coding FLT3 fms related receptor tyrosine kinase 3 O receptor-type tyrosine-protein kinase FLT3|CD135 antigen|FL cytokine receptor|fetal liver kinase 2|fms related tyrosine kinase 3|fms-like tyrosine kinase 3|growth factor receptor tyrosine kinase type III|stem cell tyrosine kinase 1 20211031 - 9606 2323 FLT3LG - FL|FLG3L|FLT3L MIM:600007|HGNC:HGNC:3766|Ensembl:ENSG00000090554 19 19q13.33 fms related receptor tyrosine kinase 3 ligand protein-coding FLT3LG fms related receptor tyrosine kinase 3 ligand O fms-related tyrosine kinase 3 ligand|flt3 ligand|fms related tyrosine kinase 3 ligand 20210726 - 9606 2324 FLT4 - CHTD7|FLT-4|FLT41|LMPH1A|LMPHM1|PCL|VEGFR-3|VEGFR3 MIM:136352|HGNC:HGNC:3767|Ensembl:ENSG00000037280 5 5q35.3 fms related receptor tyrosine kinase 4 protein-coding FLT4 fms related receptor tyrosine kinase 4 O vascular endothelial growth factor receptor 3|Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4|VEGF receptor-3|fms related tyrosine kinase 4|fms-like tyrosine kinase 4|primary congenital lymphedema|tyrosine-protein kinase receptor FLT4 20210905 - 9606 2326 FMO1 - - MIM:136130|HGNC:HGNC:3769|Ensembl:ENSG00000010932 1 1q24.3 flavin containing dimethylaniline monoxygenase 1 protein-coding FMO1 flavin containing dimethylaniline monoxygenase 1 O dimethylaniline monooxygenase [N-oxide-forming] 1|FMO 1|Flavin-containing monooxygenase 1 (fetal liver)|dimethylaniline oxidase 1|fetal hepatic flavin-containing monooxygenase 1|flavin containing monooxygenase 1 20210822 - 9606 2327 FMO2 - FMO1B1 MIM:603955|HGNC:HGNC:3770|Ensembl:ENSG00000094963 1 1q24.3 flavin containing dimethylaniline monoxygenase 2 protein-coding FMO2 flavin containing dimethylaniline monoxygenase 2 O dimethylaniline monooxygenase [N-oxide-forming] 2|FMO, pulmonary|dimethylaniline oxidase 2|flavin containing monooxygenase 2 (non-functional)|pulmonary flavin-containing monooxygenase 2 20210822 - 9606 2328 FMO3 - FMOII|TMAU|dJ127D3.1 MIM:136132|HGNC:HGNC:3771|Ensembl:ENSG00000007933 1 1q24.3 flavin containing dimethylaniline monoxygenase 3 protein-coding FMO3 flavin containing dimethylaniline monoxygenase 3 O dimethylaniline monooxygenase [N-oxide-forming] 3|FMO form 2|dimethylaniline oxidase 3|flavin containing monooxygenase 3|hepatic flavin-containing monooxygenase-3|trimethylamine monooxygenase 20211017 - 9606 2329 FMO4 - FMO2 MIM:136131|HGNC:HGNC:3772|Ensembl:ENSG00000076258 1 1q24.3 flavin containing dimethylaniline monoxygenase 4 protein-coding FMO4 flavin containing dimethylaniline monoxygenase 4 O dimethylaniline monooxygenase [N-oxide-forming] 4|FMO 4|dimethylaniline oxidase 4|flavin containing monooxygenase 4|hepatic flavin-containing monooxygenase 4 20211016 - 9606 2330 FMO5 - hBVMO1 MIM:603957|HGNC:HGNC:3773|Ensembl:ENSG00000131781 1 1q21.1 flavin containing dimethylaniline monoxygenase 5 protein-coding FMO5 flavin containing dimethylaniline monoxygenase 5 O flavin-containing monooxygenase 5|FMO 5|NAPDH oxidase|baeyer-Villiger monooxygenase 1|dimethylaniline monooxygenase [N-oxide-forming] 5|dimethylaniline oxidase 5|flavin containing monooxygenase 5|hepatic flavin-containing monooxygenase 5 20210822 - 9606 2331 FMOD - FM|SLRR2E MIM:600245|HGNC:HGNC:3774|Ensembl:ENSG00000122176 1 1q32.1 fibromodulin protein-coding FMOD fibromodulin O fibromodulin|KSPG fibromodulin|collagen-binding 59 kDa protein|epididymis secretory sperm binding protein|keratan sulfate proteoglycan fibromodulin 20210822 - 9606 2332 FMR1 - FMRP|FRAXA|POF|POF1 MIM:309550|HGNC:HGNC:3775|Ensembl:ENSG00000102081 X Xq27.3 FMRP translational regulator 1 protein-coding FMR1 FMRP translational regulator 1 O synaptic functional regulator FMR1|fragile X mental retardation 1|fragile X mental retardation protein 1|truncated FMRP 20211031 - 9606 2334 AFF2 - FMR2|FMR2P|FRAXE|MRX2|OX19|XLID109 MIM:300806|HGNC:HGNC:3776|Ensembl:ENSG00000155966 X Xq28 AF4/FMR2 family member 2 protein-coding AFF2 AF4/FMR2 family member 2 O AF4/FMR2 family member 2|fragile X E mental retardation syndrome protein|fragile X mental retardation 2 protein|protein FMR-2 20210912 - 9606 2335 FN1 - CIG|ED-B|FINC|FN|FNZ|GFND|GFND2|LETS|MSF|SMDCF MIM:135600|HGNC:HGNC:3778|Ensembl:ENSG00000115414 2 2q35 fibronectin 1 protein-coding FN1 fibronectin 1 O fibronectin|cold-insoluble globulin|epididymis secretory sperm binding protein|migration-stimulating factor 20211031 - 9606 2339 FNTA - FPTA|PGGT1A|PTAR2 MIM:134635|HGNC:HGNC:3782|Ensembl:ENSG00000168522 8 8p11.21 farnesyltransferase, CAAX box, alpha protein-coding FNTA farnesyltransferase, CAAX box, alpha O protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha|FTase-alpha|GGTase-I-alpha|farnesyl-protein transferase alpha-subunit|protein prenyltransferase alpha subunit repeat containing 2|ras proteins prenyltransferase subunit alpha|type I protein geranyl-geranyltransferase alpha subunit 20210905 - 9606 2341 FNTAP2 - FNTAL2 HGNC:HGNC:3784 13 13q12.11 farnesyltransferase, CAAX box, alpha pseudogene 2 pseudo FNTAP2 farnesyltransferase, CAAX box, alpha pseudogene 2 O farnesyltransferase, CAAX box, alpha-like 2 20210611 - 9606 2342 FNTB - FPTB MIM:134636|HGNC:HGNC:3785|Ensembl:ENSG00000257365 14 14q23.3 farnesyltransferase, CAAX box, beta protein-coding FNTB farnesyltransferase, CAAX box, beta O protein farnesyltransferase subunit beta|CAAX farnesyltransferase subunit beta|FTase-beta|epididymis secretory sperm binding protein|ras proteins prenyltransferase subunit beta 20210708 - 9606 2346 FOLH1 - FGCP|FOLH|GCP2|GCPII|NAALAD1|PSM|PSMA|mGCP MIM:600934|HGNC:HGNC:3788|Ensembl:ENSG00000086205 11 11p11.12 folate hydrolase 1 protein-coding FOLH1 folate hydrolase 1 O glutamate carboxypeptidase 2|N-acetylated alpha-linked acidic dipeptidase 1|N-acetylated-alpha-linked acidic dipeptidase I|NAALADase I|cell growth-inhibiting gene 27 protein|folylpoly-gamma-glutamate carboxypeptidase|glutamate carboxylase II|glutamate carboxypeptidase II|membrane glutamate carboxypeptidase|prostate specific membrane antigen variant F|pteroylpoly-gamma-glutamate carboxypeptidase 20211026 - 9606 2348 FOLR1 - FBP|FOLR|FRalpha|NCFTD MIM:136430|HGNC:HGNC:3791|Ensembl:ENSG00000110195 11 11q13.4 folate receptor alpha protein-coding FOLR1 folate receptor alpha O folate receptor alpha|FR-alpha|KB cells FBP|adult folate-binding protein|folate binding protein|folate receptor 1 (adult)|folate receptor, adult|ovarian tumor-associated antigen MOv18 20211017 - 9606 2350 FOLR2 - BETA-HFR|FBP|FBP/PL-1|FOLR1|FR-BETA|FR-P3|FRbeta MIM:136425|HGNC:HGNC:3793|Ensembl:ENSG00000165457 11 11q13.4 folate receptor beta protein-coding FOLR2 folate receptor beta O folate receptor beta|folate receptor 2 (fetal)|folate receptor alpha|folate receptor, fetal/placental|folate-binding protein, fetal/placental|placental folate-binding protein 20211017 - 9606 2352 FOLR3 - FR-G|FR-gamma|FRgamma|gamma-hFR MIM:602469|HGNC:HGNC:3795|Ensembl:ENSG00000110203 11 11q13.4 folate receptor gamma protein-coding FOLR3 folate receptor gamma O folate receptor gamma|folate receptor 3 (gamma) 20210708 - 9606 2353 FOS - AP-1|C-FOS|p55 MIM:164810|HGNC:HGNC:3796|Ensembl:ENSG00000170345 14 14q24.3 Fos proto-oncogene, AP-1 transcription factor subunit protein-coding FOS Fos proto-oncogene, AP-1 transcription factor subunit O proto-oncogene c-Fos|FBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS)|FBJ murine osteosarcoma viral oncogene homolog|Fos proto-oncogene, AP-1 trancription factor subunit|G0/G1 switch regulatory protein 7|activator protein 1|cellular oncogene c-fos 20211017 - 9606 2354 FOSB - AP-1|G0S3|GOS3|GOSB MIM:164772|HGNC:HGNC:3797|Ensembl:ENSG00000125740 19 19q13.32 FosB proto-oncogene, AP-1 transcription factor subunit protein-coding FOSB FosB proto-oncogene, AP-1 transcription factor subunit O protein fosB|FBJ murine osteosarcoma viral oncogene homolog B|FosB proto-oncogene, AP-1 trancription factor subunit|G0/G1 switch regulatory protein 3|activator protein 1 20210822 - 9606 2355 FOSL2 - FRA2 MIM:601575|HGNC:HGNC:3798|Ensembl:ENSG00000075426 2 2p23.2 FOS like 2, AP-1 transcription factor subunit protein-coding FOSL2 FOS like 2, AP-1 transcription factor subunit O fos-related antigen 2|FOS like 2, AP-1 trancription factor subunit|FOS like antigen 2|FRA-2 20211017 - 9606 2356 FPGS - - MIM:136510|HGNC:HGNC:3824|Ensembl:ENSG00000136877 9 9q34.11 folylpolyglutamate synthase protein-coding FPGS folylpolyglutamate synthase O folylpolyglutamate synthase, mitochondrial|folylpoly-gamma-glutamate synthetase|tetrahydrofolate synthase|tetrahydrofolylpolyglutamate synthase 20210822 - 9606 2357 FPR1 - FMLP|FPR MIM:136537|HGNC:HGNC:3826|Ensembl:ENSG00000171051 19 19q13.41 formyl peptide receptor 1 protein-coding FPR1 formyl peptide receptor 1 O fMet-Leu-Phe receptor|N-formylpeptide chemoattractant receptor|fMLP receptor 20211003 - 9606 2358 FPR2 - ALX|ALXR|FMLP-R-II|FMLPX|FPR2A|FPRH1|FPRH2|FPRL1|HM63|LXA4R MIM:136538|HGNC:HGNC:3827|Ensembl:ENSG00000171049 19 19q13.41 formyl peptide receptor 2 protein-coding FPR2 formyl peptide receptor 2 O N-formyl peptide receptor 2|FMLP-R-I|FMLP-related receptor I|LXA4 receptor|RFP|formyl peptide receptor-like 1|lipoxin A4 receptor (formyl peptide receptor related) 20211026 - 9606 2359 FPR3 - FML2_HUMAN|FMLP-R-II|FMLPY|FPRH1|FPRH2|FPRL2|RMLP-R-I MIM:136539|HGNC:HGNC:3828|Ensembl:ENSG00000187474 19 19q13.41 formyl peptide receptor 3 protein-coding FPR3 formyl peptide receptor 3 O N-formyl peptide receptor 3|FMLP-related receptor II|formyl peptide receptor-like 2 20210711 - 9606 2360 FRA1A - - HGNC:HGNC:3868 1 1p36 fragile site, aphidicolin type, common, fra(1)(p36) other FRA1A fragile site, aphidicolin type, common, fra(1)(p36) O - 20190324 - 9606 2361 FRA1B - - HGNC:HGNC:3869 1 1p32 fragile site, aphidicolin type, common, fra(1)(p32) other FRA1B fragile site, aphidicolin type, common, fra(1)(p32) O - 20190324 - 9606 2362 FRA1C - - HGNC:HGNC:3870 1 1p31.2 fragile site, aphidicolin type, common, fra(1)(p31.2) other FRA1C fragile site, aphidicolin type, common, fra(1)(p31.2) O - 20190324 - 9606 2363 FRA1D - - HGNC:HGNC:3871 1 1p22 fragile site, aphidicolin type, common, fra(1)(p22) other FRA1D fragile site, aphidicolin type, common, fra(1)(p22) O - 20190324 - 9606 2364 FRA1E - - HGNC:HGNC:3872 1 1p21.2 fragile site, aphidicolin type, common, fra(1)(p21.2) other FRA1E fragile site, aphidicolin type, common, fra(1)(p21.2) O - 20190324 - 9606 2365 FRA1F - - HGNC:HGNC:3873 1 1q21 fragile site, aphidicolin type, common, fra(1)(q21) other FRA1F fragile site, aphidicolin type, common, fra(1)(q21) O - 20190324 - 9606 2366 FRA1G - - HGNC:HGNC:3874 1 1q25.1 fragile site, aphidicolin type, common, fra(1)(q25.1) other FRA1G fragile site, aphidicolin type, common, fra(1)(q25.1) O - 20190324 - 9606 2367 FRA1H - - HGNC:HGNC:3875 1 1q42.1 fragile site, 5-azacytidine type, common, fra(1)(q42) other FRA1H fragile site, 5-azacytidine type, common, fra(1)(q42) O - 20190324 - 9606 2368 FRA1I - - HGNC:HGNC:3876 1 1q44 fragile site, aphidicolin type, common, fra(1)(q44) other FRA1I fragile site, aphidicolin type, common, fra(1)(q44) O - 20190324 - 9606 2369 FRA1J - - HGNC:HGNC:3877 1 1q12 fragile site, 5-azacytidine type, common, fra(1)(q12) other FRA1J fragile site, 5-azacytidine type, common, fra(1)(q12) O - 20190324 - 9606 2370 FRA1K - - HGNC:HGNC:3878 1 1q31 fragile site, aphidicolin type, common, fra(1)(q31) other FRA1K fragile site, aphidicolin type, common, fra(1)(q31) O - 20190324 - 9606 2371 FRA1L - - HGNC:HGNC:3879 1 1p31 fragile site, aphidicolin type, common, fra(1)(p31) other FRA1L fragile site, aphidicolin type, common, fra(1)(p31) O - 20190324 - 9606 2372 FRA1M - - HGNC:HGNC:3880 1 1p21.3 fragile site, folic acid type, rare, fra(1)(p21.3) other FRA1M fragile site, folic acid type, rare, fra(1)(p21.3) O - 20190324 - 9606 2374 FRA2B - - HGNC:HGNC:3886 2 2q13 fragile site, folic acid type, rare, fra(2)(q13) other FRA2B fragile site, folic acid type, rare, fra(2)(q13) O - 20190324 - 9606 2375 FRA2C - - HGNC:HGNC:3887 2 2p24.2 fragile site, aphidicolin type, common, fra(2)(p24.2) other FRA2C fragile site, aphidicolin type, common, fra(2)(p24.2) O - 20190324 - 9606 2376 FRA2D - - HGNC:HGNC:3888 2 2p16.2 fragile site, aphidicolin type, common, fra(2)(p16.2) other FRA2D fragile site, aphidicolin type, common, fra(2)(p16.2) O - 20190324 - 9606 2377 FRA2E - - HGNC:HGNC:3889 2 2p13 fragile site, aphidicolin type, common, fra(2)(p13) other FRA2E fragile site, aphidicolin type, common, fra(2)(p13) O - 20190324 - 9606 2378 FRA2F - - HGNC:HGNC:3890 2 2q21.3 fragile site, aphidicolin type, common, fra(2)(q21.3) other FRA2F fragile site, aphidicolin type, common, fra(2)(q21.3) O - 20190324 - 9606 2379 FRA2G - - HGNC:HGNC:3891 2 2q31 fragile site, aphidicolin type, common, fra(2)(q31) other FRA2G fragile site, aphidicolin type, common, fra(2)(q31) O - 20190324 - 9606 2380 FRA2H - - HGNC:HGNC:3892 2 2q32.1 fragile site, aphidicolin type, common, fra(2)(q32.1) other FRA2H fragile site, aphidicolin type, common, fra(2)(q32.1) O - 20190324 - 9606 2381 FRA2I - - HGNC:HGNC:3893 2 2q33 fragile site, aphidicolin type, common, fra(2)(q33) other FRA2I fragile site, aphidicolin type, common, fra(2)(q33) O - 20190324 - 9606 2382 FRA2J - - HGNC:HGNC:3894 2 2q37.3 fragile site, aphidicolin type, common, fra(2)(q37.3) other FRA2J fragile site, aphidicolin type, common, fra(2)(q37.3) O - 20190324 - 9606 2383 FRA2K - - HGNC:HGNC:3895 2 2q22.3 fragile site, folic acid type, rare, fra(2)(q22.3) other FRA2K fragile site, folic acid type, rare, fra(2)(q22.3) O - 20190324 - 9606 2384 FRA3A - - HGNC:HGNC:3896 3 3p24.2 fragile site, aphidicolin type, common, fra(3)(p24.2) other FRA3A fragile site, aphidicolin type, common, fra(3)(p24.2) O - 20190324 - 9606 2386 FRA3C - - HGNC:HGNC:3898 3 3q27 fragile site, aphidicolin type, common, fra(3)(q27) other FRA3C fragile site, aphidicolin type, common, fra(3)(q27) O - 20190324 - 9606 2387 FRA3D - - HGNC:HGNC:3899 3 3q25 fragile site, aphidicolin type, common, fra(3)(q25) other FRA3D fragile site, aphidicolin type, common, fra(3)(q25) O - 20190324 - 9606 2388 FRA4A - - HGNC:HGNC:3900 4 4p16.1 fragile site, aphidicolin type, common, fra(4)(p16.1) other FRA4A fragile site, aphidicolin type, common, fra(4)(p16.1) O - 20190324 - 9606 2389 FRA4B - - HGNC:HGNC:3901 4 4q12 fragile site, BrdU type, common, fra(4)(q12) other FRA4B fragile site, BrdU type, common, fra(4)(q12) O - 20190324 - 9606 2390 FRA4C - - HGNC:HGNC:3902 4 4q31.1 fragile site, aphidicolin type, common, fra(4)(q31.1) other FRA4C fragile site, aphidicolin type, common, fra(4)(q31.1) O - 20190324 - 9606 2391 FRA4D - - HGNC:HGNC:3903 4 4p15 fragile site, aphidicolin type, common, fra(4)(p15) other FRA4D fragile site, aphidicolin type, common, fra(4)(p15) O - 20190324 - 9606 2393 FRA5A - - HGNC:HGNC:3905 5 5p13 fragile site, BrdU type, common, fra(5)(p13) other FRA5A fragile site, BrdU type, common, fra(5)(p13) O - 20190324 - 9606 2394 FRA5B - - HGNC:HGNC:3906 5 5q15 fragile site, BrdU type, common, fra(5)(q15) other FRA5B fragile site, BrdU type, common, fra(5)(q15) O - 20190324 - 9606 2395 FXN - CyaY|FA|FARR|FRDA|X25 MIM:606829|HGNC:HGNC:3951|Ensembl:ENSG00000165060 9 9q21.11 frataxin protein-coding FXN frataxin O frataxin, mitochondrial|Friedreich ataxia protein 20211017 - 9606 2396 FRA5C - - HGNC:HGNC:3907 5 5q31.1 fragile site, aphidicolin type, common, fra(5)(q31.1) other FRA5C fragile site, aphidicolin type, common, fra(5)(q31.1) O - 20190324 - 9606 2397 FRA5D - - HGNC:HGNC:3908 5 5q15 fragile site, aphidicolin type, common, fra(5)(q15) other FRA5D fragile site, aphidicolin type, common, fra(5)(q15) O - 20190324 - 9606 2398 FRA5E - - HGNC:HGNC:3909 5 5p14 fragile site, aphidicolin type, common, fra(5)(p14) other FRA5E fragile site, aphidicolin type, common, fra(5)(p14) O - 20190324 - 9606 2399 FRA5F - - HGNC:HGNC:3910 5 5q21 fragile site, aphidicolin type, common, fra(5)(q21) other FRA5F fragile site, aphidicolin type, common, fra(5)(q21) O - 20190324 - 9606 2400 FRA5G - - HGNC:HGNC:3911 5 5q35 fragile site, folic acid type, rare, fra(5)(q35) other FRA5G fragile site, folic acid type, rare, fra(5)(q35) O - 20190324 - 9606 2401 FRA6A - - HGNC:HGNC:3912 6 6p23 fragile site, folic acid type, rare, fra(6)(p23) other FRA6A fragile site, folic acid type, rare, fra(6)(p23) O - 20190324 - 9606 2402 FRA6B - - HGNC:HGNC:3913 6 6p25.1 fragile site, aphidicolin type, common, fra(6)(p25.1) other FRA6B fragile site, aphidicolin type, common, fra(6)(p25.1) O - 20190324 - 9606 2403 FRA6C - - HGNC:HGNC:3914 6 6p22.2 fragile site, aphidicolin type, common, fra(6)(p22.2) other FRA6C fragile site, aphidicolin type, common, fra(6)(p22.2) O - 20190324 - 9606 2404 FRA6D - - HGNC:HGNC:3915 6 6q13 fragile site, BrdU type, common, fra(6)(q13) other FRA6D fragile site, BrdU type, common, fra(6)(q13) O - 20190324 - 9606 2405 FRA6E - - HGNC:HGNC:3916 6 6q26 fragile site, aphidicolin type, common, fra(6)(q26) other FRA6E fragile site, aphidicolin type, common, fra(6)(q26) O - 20190324 - 9606 2406 FRA6F - - HGNC:HGNC:3917 6 6q21 fragile site, aphidicolin type, common, fra(6)(q21) other FRA6F fragile site, aphidicolin type, common, fra(6)(q21) O - 20190324 - 9606 2407 FRA6G - - HGNC:HGNC:3918 6 6q15 fragile site, aphidicolin type, common, fra(6)(q15) other FRA6G fragile site, aphidicolin type, common, fra(6)(q15) O - 20190324 - 9606 2409 FRA7B - - HGNC:HGNC:3920 7 7p22 fragile site, aphidicolin type, common, fra(7)(p22) other FRA7B fragile site, aphidicolin type, common, fra(7)(p22) O - 20190324 - 9606 2410 FRA7C - - HGNC:HGNC:3921 7 7p14.2 fragile site, aphidicolin type, common, fra(7)(p14.2) other FRA7C fragile site, aphidicolin type, common, fra(7)(p14.2) O - 20190324 - 9606 2411 FRA7D - - HGNC:HGNC:3922 7 7p13 fragile site, aphidicolin type, common, fra(7)(p13) other FRA7D fragile site, aphidicolin type, common, fra(7)(p13) O - 20190324 - 9606 2412 FRA7E - - HGNC:HGNC:3923 7 7q21.2 fragile site, aphidicolin type, common, fra(7)(q21.2) other FRA7E fragile site, aphidicolin type, common, fra(7)(q21.2) O - 20190324 - 9606 2413 FRA7F - - HGNC:HGNC:3924 7 7q22 fragile site, aphidicolin type, common, fra(7)(q22) other FRA7F fragile site, aphidicolin type, common, fra(7)(q22) O - 20190324 - 9606 2414 FRA7G - D7S486 HGNC:HGNC:3925 7 7q31.2 fragile site, aphidicolin type, common, fra(7)(q31.2) other FRA7G fragile site, aphidicolin type, common, fra(7)(q31.2) O - 20190324 - 9606 2415 FRA7H - - HGNC:HGNC:3926 7 7q32.3 fragile site, aphidicolin type, common, fra(7)(q32.3) other FRA7H fragile site, aphidicolin type, common, fra(7)(q32.3) O - 20190324 - 9606 2416 FRA7I - - HGNC:HGNC:3927 7 7q36 fragile site, aphidicolin type, common, fra(7)(q36) other FRA7I fragile site, aphidicolin type, common, fra(7)(q36) O - 20190324 - 9606 2417 FRA7J - - HGNC:HGNC:3928 7 7q11 fragile site, aphidicolin type, common, fra(7)(q11) other FRA7J fragile site, aphidicolin type, common, fra(7)(q11) O - 20190324 - 9606 2418 FRA8A - - HGNC:HGNC:3929 8 8q22.3 fragile site, folic acid type, rare, fra(8)(q22.3) other FRA8A fragile site, folic acid type, rare, fra(8)(q22.3) O - 20190324 - 9606 2419 FRA8B - - HGNC:HGNC:3930 8 8q22.1 fragile site, aphidicolin type, common, fra(8)(q22.1) other FRA8B fragile site, aphidicolin type, common, fra(8)(q22.1) O - 20190324 - 9606 2420 FRDA2 - - MIM:601992 9 9p23-p11 Friedreich ataxia 2 unknown - - - - 20191002 - 9606 2421 FRA8C - - HGNC:HGNC:3931 8 8q24.1 fragile site, aphidicolin type, common, fra(8)(q24.1) other FRA8C fragile site, aphidicolin type, common, fra(8)(q24.1) O - 20190324 - 9606 2422 FRA8D - - HGNC:HGNC:3932 8 8q24.3 fragile site, aphidicolin type, common, fra(8)(q24.3) other FRA8D fragile site, aphidicolin type, common, fra(8)(q24.3) O - 20190324 - 9606 2423 FRA8E - - HGNC:HGNC:3933 8 8q24.1 fragile site, distamycin A type, rare, fra(8)(q24.1) other FRA8E fragile site, distamycin A type, rare, fra(8)(q24.1) O - 20190324 - 9606 2425 FRA9A - - HGNC:HGNC:3935 9 9p21 fragile site, folic acid type, rare, fra(9)(p21) other FRA9A fragile site, folic acid type, rare, fra(9)(p21) O - 20190324 - 9606 2426 FRA9B - - MIM:136640|HGNC:HGNC:3936 9 9q32 fragile site, folic acid type, rare, fra(9)(q32) other FRA9B fragile site, folic acid type, rare, fra(9)(q32) O - 20190324 - 9606 2427 FRA9C - - HGNC:HGNC:3937 9 9p21 fragile site, BrdU type, common, fra(9)(p21) other FRA9C fragile site, BrdU type, common, fra(9)(p21) O - 20190324 - 9606 2428 FRA9D - - HGNC:HGNC:3938 9 9q22.1 fragile site, aphidicolin type, common, fra(9)(q22.1) other FRA9D fragile site, aphidicolin type, common, fra(9)(q22.1) O - 20190324 - 9606 2429 FRA9E - - HGNC:HGNC:3939 9 9q32 fragile site, aphidicolin type, common, fra(9)(q32) other FRA9E fragile site, aphidicolin type, common, fra(9)(q32) O - 20190324 - 9606 2430 FRA9F - - HGNC:HGNC:3940 9 9q12 fragile site, 5-azacytidine type, common, fra(9)(q12) other FRA9F fragile site, 5-azacytidine type, common, fra(9)(q12) O - 20190324 - 9606 2433 FRA10C - - HGNC:HGNC:3831 10 10q21 fragile site, BrdU type, common, fra(10)(q21) other FRA10C fragile site, BrdU type, common, fra(10)(q21) O - 20190324 - 9606 2434 FRA10D - - HGNC:HGNC:3832 10 10q22.1 fragile site, aphidicolin type, common, fra(10)(q22.1) other FRA10D fragile site, aphidicolin type, common, fra(10)(q22.1) O - 20190324 - 9606 2435 FRA10E - - HGNC:HGNC:3833 10 10q25.2 fragile site, aphidicolin type, common, fra(10)(q25.2) other FRA10E fragile site, aphidicolin type, common, fra(10)(q25.2) O - 20190324 - 9606 2436 FRA10F - - HGNC:HGNC:3834 10 10q26.1 fragile site, aphidicolin type, common, fra(10)(q26.1) other FRA10F fragile site, aphidicolin type, common, fra(10)(q26.1) O - 20190324 - 9606 2437 FRA10G - - HGNC:HGNC:3835 10 10q11.2 fragile site, aphidicolin type, common, fra(10)(q11.2) other FRA10G fragile site, aphidicolin type, common, fra(10)(q11.2) O - 20190324 - 9606 2440 FRA11C - - HGNC:HGNC:3838 11 11p15.1 fragile site, aphidicolin type, common, fra(11)(p15.1) other FRA11C fragile site, aphidicolin type, common, fra(11)(p15.1) O - 20190324 - 9606 2441 FRA11D - - HGNC:HGNC:3839 11 11p14.2 fragile site, aphidicolin type, common, fra(11)(p14.2) other FRA11D fragile site, aphidicolin type, common, fra(11)(p14.2) O - 20190324 - 9606 2442 FRA11E - - HGNC:HGNC:3840 11 11p13 fragile site, aphidicolin type, common, fra(11)(p13) other FRA11E fragile site, aphidicolin type, common, fra(11)(p13) O - 20190324 - 9606 2443 FRA11F - - HGNC:HGNC:3841 11 11q14.2 fragile site, aphidicolin type, common, fra(11)(q14.2) other FRA11F fragile site, aphidicolin type, common, fra(11)(q14.2) O - 20190324 - 9606 2444 FRK - GTK|PTK5|RAK MIM:606573|HGNC:HGNC:3955|Ensembl:ENSG00000111816 6 6q22.1 fyn related Src family tyrosine kinase protein-coding FRK fyn related Src family tyrosine kinase O tyrosine-protein kinase FRK|PTK5 protein tyrosine kinase 5|fyn-related kinase|nuclear tyrosine protein kinase RAK|protein-tyrosine kinase 5 20210822 - 9606 2445 FRA11G - - HGNC:HGNC:3842 11 11q23.3 fragile site, aphidicolin type, common, fra(11)(q23.3) other FRA11G fragile site, aphidicolin type, common, fra(11)(q23.3) O - 20190324 - 9606 2446 FRA11H - - HGNC:HGNC:3843 11 11q13 fragile site, aphidicolin type, common, fra(11)(q13) other FRA11H fragile site, aphidicolin type, common, fra(11)(q13) O - 20190324 - 9606 2447 FRA11I - - HGNC:HGNC:3844 11 11p15.1 fragile site, distamycin A type, rare, fra(11)(p15.1) other FRA11I fragile site, distamycin A type, rare, fra(11)(p15.1) O - 20190324 - 9606 2449 FRA12B - - HGNC:HGNC:3846 12 12q21.3 fragile site, aphidicolin type, common, fra(12)(q21.3) other FRA12B fragile site, aphidicolin type, common, fra(12)(q21.3) O - 20190324 - 9606 2450 FRA12C - - HGNC:HGNC:3847 12 12q24.2 fragile site, BrdU type, rare, fra(12)(q24.2) other FRA12C fragile site, BrdU type, rare, fra(12)(q24.2) O - 20190324 - 9606 2451 FRA12D - - HGNC:HGNC:3848 12 12q24.13 fragile site, folic acid type, rare, fra(12)(q24.13) other FRA12D fragile site, folic acid type, rare, fra(12)(q24.13) O - 20190324 - 9606 2452 FRA12E - - HGNC:HGNC:3849 12 12q24 fragile site, aphidicolin type, common, fra(12)(q24) other FRA12E fragile site, aphidicolin type, common, fra(12)(q24) O - 20190324 - 9606 2453 FRA13A - - HGNC:HGNC:3850 13 13q13.2 fragile site, aphidicolin type, common, fra(13)(q13.2) other FRA13A fragile site, aphidicolin type, common, fra(13)(q13.2) O - 20190324 - 9606 2454 FRA13B - - HGNC:HGNC:3851 13 13q21 fragile site, BrdU type, common, fra(13)(q21) other FRA13B fragile site, BrdU type, common, fra(13)(q21) O - 20190324 - 9606 2455 FRA13C - - HGNC:HGNC:3852 13 13q21.2 fragile site, aphidicolin type, common, fra(13)(q21.2) other FRA13C fragile site, aphidicolin type, common, fra(13)(q21.2) O - 20190324 - 9606 2456 FRA13D - - HGNC:HGNC:3853 13 13q32 fragile site, aphidicolin type, common, fra(13)(q32) other FRA13D fragile site, aphidicolin type, common, fra(13)(q32) O - 20190324 - 9606 2457 FRA14B - - HGNC:HGNC:3854 14 14q23 fragile site, aphidicolin type, common, fra(14)(q23) other FRA14B fragile site, aphidicolin type, common, fra(14)(q23) O - 20190324 - 9606 2458 FRA14C - - HGNC:HGNC:3855 14 14q24.1 fragile site, aphidicolin type, common, fra(14)(q24.1) other FRA14C fragile site, aphidicolin type, common, fra(14)(q24.1) O - 20190324 - 9606 2459 FRA15A - - HGNC:HGNC:3856 15 15q22 fragile site, aphidicolin type, common, fra(15)(q22) other FRA15A fragile site, aphidicolin type, common, fra(15)(q22) O - 20190324 - 9606 2462 FRA16C - - HGNC:HGNC:3859 16 16q22.1 fragile site, aphidicolin type, common, fra(16)(q22.1) other FRA16C fragile site, aphidicolin type, common, fra(16)(q22.1) O - 20190324 - 9606 2463 FRA16D - - HGNC:HGNC:3860 16 16q23.2 fragile site, aphidicolin type, common, fra(16)(q23.2) other FRA16D fragile site, aphidicolin type, common, fra(16)(q23.2) O - 20190324 - 9606 2464 FRA16E - C16DELp12.1 MIM:136570|HGNC:HGNC:3861 16 16p12.1 fragile site, distamycin A type, rare, fra(16)(p12.1) other FRA16E fragile site, distamycin A type, rare, fra(16)(p12.1) O - 20210410 - 9606 2465 FRA17A - - MIM:136660|HGNC:HGNC:3862 17 17p12 fragile site, distamycin A type, rare, fra(17)(p12) other FRA17A fragile site, distamycin A type, rare, fra(17)(p12) O - 20190324 - 9606 2466 FRA17B - - HGNC:HGNC:3863 17 17q23.1 fragile site, aphidicolin type, common, fra(17)(q23.1) other FRA17B fragile site, aphidicolin type, common, fra(17)(q23.1) O - 20190324 - 9606 2467 FRA18A - - HGNC:HGNC:3864 18 18q12.2 fragile site, aphidicolin type, common, fra(18)(q12.2) other FRA18A fragile site, aphidicolin type, common, fra(18)(q12.2) O - 20190324 - 9606 2468 FRA18B - - HGNC:HGNC:3865 18 18q21.3 fragile site, aphidicolin type, common, fra(18)(q21.3) other FRA18B fragile site, aphidicolin type, common, fra(18)(q21.3) O - 20190324 - 9606 2469 FRA19A - - HGNC:HGNC:3866 19 19q13 fragile site, 5-azacytidine type, common, fra(19)(q13) other FRA19A fragile site, 5-azacytidine type, common, fra(19)(q13) O - 20190324 - 9606 2470 FRA19B - - HGNC:HGNC:3867 19 19p13 fragile site, folic acid type, rare, fra(19)(p13) other FRA19B fragile site, folic acid type, rare, fra(19)(p13) O - 20190324 - 9606 2471 FRA20A - - MIM:136590|HGNC:HGNC:3881 20 20p11.23 fragile site, folic acid type, rare, fra(20)(p11.23) other FRA20A fragile site, folic acid type, rare, fra(20)(p11.23) O - 20190324 - 9606 2472 FRA20B - - HGNC:HGNC:3882 20 20p12.2 fragile site, aphidicolin type, common, fra(20)(p12.2) other FRA20B fragile site, aphidicolin type, common, fra(20)(p12.2) O - 20190324 - 9606 2473 FRA22A - - HGNC:HGNC:3883 22 22q13 fragile site, folic acid type, rare, fra(22)(q13) other FRA22A fragile site, folic acid type, rare, fra(22)(q13) O - 20190324 - 9606 2474 FRA22B - - HGNC:HGNC:3884 22 22q12.2 fragile site, aphidicolin type, common, fra(22)(q12.2) other FRA22B fragile site, aphidicolin type, common, fra(22)(q12.2) O - 20190324 - 9606 2475 MTOR - FRAP|FRAP1|FRAP2|RAFT1|RAPT1|SKS MIM:601231|HGNC:HGNC:3942|Ensembl:ENSG00000198793 1 1p36.22 mechanistic target of rapamycin kinase protein-coding MTOR mechanistic target of rapamycin kinase O serine/threonine-protein kinase mTOR|FK506 binding protein 12-rapamycin associated protein 2|FK506-binding protein 12-rapamycin complex-associated protein 1|FKBP-rapamycin associated protein|FKBP12-rapamycin complex-associated protein 1|mammalian target of rapamycin|mechanistic target of rapamycin (serine/threonine kinase)|rapamycin and FKBP12 target 1|rapamycin associated protein FRAP2|rapamycin target protein 1 20211031 - 9606 2478 FRAXB - - HGNC:HGNC:3946 X Xp22.31 fragile site, aphidicolin type, common, fra(X)(p22.31) B other FRAXB fragile site, aphidicolin type, common, fra(X)(p22.31) B O - 20190324 - 9606 2479 FRAXC - - HGNC:HGNC:3947 X Xq22.1 fragile site, aphidicolin type, common, fra(X)(q22.1) C other FRAXC fragile site, aphidicolin type, common, fra(X)(q22.1) C O - 20190324 - 9606 2480 FRAXD - - HGNC:HGNC:3948 X Xq27.2 fragile site, aphidicolin type, common, fra(X)(q27.2) D other FRAXD fragile site, aphidicolin type, common, fra(X)(q27.2) D O - 20190324 - 9606 2483 FRG1 - FRG1A|FSG1 MIM:601278|HGNC:HGNC:3954|Ensembl:ENSG00000109536 4 4q35.2 FSHD region gene 1 protein-coding FRG1 FSHD region gene 1 O protein FRG1|FSHD region gene 1 protein|facioscapulohumeral muscular dystrophy region gene-1 20210905 - 9606 2487 FRZB - FRE|FRITZ|FRP-3|FRZB-1|FRZB-PEN|FRZB1|FZRB|OS1|SFRP3|SRFP3|hFIZ MIM:605083|HGNC:HGNC:3959|Ensembl:ENSG00000162998 2 2q32.1 frizzled related protein protein-coding FRZB frizzled related protein O secreted frizzled-related protein 3|frezzled|frizzled homolog-related|frizzled-related protein 1|sFRP-3 20210809 - 9606 2488 FSHB - HH24 MIM:136530|HGNC:HGNC:3964|Ensembl:ENSG00000131808 11 11p14.1 follicle stimulating hormone subunit beta protein-coding FSHB follicle stimulating hormone subunit beta O follitropin subunit beta|FSH-B|FSH-beta|follicle stimulating hormone beta subunit|follicle stimulating hormone, beta polypeptide|follitropin, beta chain 20211028 - 9606 2489 FSHMD1A - FMD|FSHD|FSHD1A|FSHMD MIM:158900 4 4q35 facioscapulohumeral muscular dystrophy 1A unknown - - - - 20191002 - 9606 2490 FSHMD1B - FSHD1B MIM:158901 - - facioscapulohumeral muscular dystrophy 1B unknown - - - - 20191002 - 9606 2491 CENPI - CENP-I|FSHPRH1|LRPR1 MIM:300065|HGNC:HGNC:3968|Ensembl:ENSG00000102384 X Xq22.1 centromere protein I protein-coding CENPI centromere protein I O centromere protein I|FSH primary response 1|follicle-stimulating hormone primary response protein|interphase centromere complex protein 19|leucine-rich primary response protein 1 20210809 - 9606 2492 FSHR - FSHR1|FSHRO|LGR1|ODG1 MIM:136435|HGNC:HGNC:3969|Ensembl:ENSG00000170820 2 2p16.3 follicle stimulating hormone receptor protein-coding FSHR follicle stimulating hormone receptor O follicle-stimulating hormone receptor|FSH receptor|follitropin receptor 20211026 - 9606 2494 NR5A2 - B1F|B1F2|CPF|FTF|FTZ-F1|FTZ-F1beta|LRH-1|LRH1|hB1F-2 MIM:604453|HGNC:HGNC:7984|Ensembl:ENSG00000116833 1 1q32.1 nuclear receptor subfamily 5 group A member 2 protein-coding NR5A2 nuclear receptor subfamily 5 group A member 2 O nuclear receptor subfamily 5 group A member 2|CYP7A promoter-binding factor|b1-binding factor, hepatocyte transcription factor which activates enhancer II of hepatitis B virus|fetoprotein-alpha 1 (AFP) transcription factor|hepatocytic transcription factor hB1F-3|liver nuclear receptor homolog-1 variant 2 20211031 - 9606 2495 FTH1 - FHC|FTH|FTHL6|HFE5|PIG15|PLIF MIM:134770|HGNC:HGNC:3976|Ensembl:ENSG00000167996 11 11q12.3 ferritin heavy chain 1 protein-coding FTH1 ferritin heavy chain 1 O ferritin heavy chain|apoferritin|cell proliferation-inducing gene 15 protein|ferritin H subunit|ferritin, heavy polypeptide 1|placenta immunoregulatory factor|proliferation-inducing protein 15 20211031 - 9606 2496 FTH1P1 - FTHL1 HGNC:HGNC:3979 1 1p34.3 ferritin heavy chain 1 pseudogene 1 pseudo FTH1P1 ferritin heavy chain 1 pseudogene 1 O ferritin, heavy polypeptide 1 pseudogene|ferritin, heavy polypeptide-like 1 pseudogene 20210611 - 9606 2497 FTH1P2 - FTHL2 HGNC:HGNC:3989|Ensembl:ENSG00000234975 1 1q42.13 ferritin heavy chain 1 pseudogene 2 pseudo FTH1P2 ferritin heavy chain 1 pseudogene 2 O ferritin, heavy polypeptide 1 pseudogene 2|ferritin, heavy polypeptide-like 2 20210611 - 9606 2498 FTH1P3 - FTHL3|FTHL3P HGNC:HGNC:3990 2 2p23.3 ferritin heavy chain 1 pseudogene 3 pseudo FTH1P3 ferritin heavy chain 1 pseudogene 3 O ferritin, heavy polypeptide 1 pseudogene 3|ferritin, heavy polypeptide-like 3 pseudogene 20210724 - 9606 2499 FTH1P4 - FTHL4 HGNC:HGNC:3991 3 3q21.3 ferritin heavy chain 1 pseudogene 4 pseudo FTH1P4 ferritin heavy chain 1 pseudogene 4 O ferritin, heavy polypeptide 1 pseudogene 4|ferritin, heavy polypeptide-like 4 pseudogene 20210611 - 9606 2500 FTH1P7 - FTHL7 HGNC:HGNC:3994 13 13q12.12 ferritin heavy chain 1 pseudogene 7 pseudo FTH1P7 ferritin heavy chain 1 pseudogene 7 O ferritin, heavy polypeptide 1 pseudogene 7|ferritin, heavy polypeptide-like 7 20210611 - 9606 2501 FTH1P8 - FTHL8 HGNC:HGNC:3995 X Xq28 ferritin heavy chain 1 pseudogene 8 pseudo FTH1P8 ferritin heavy chain 1 pseudogene 8 O ferritin, heavy polypeptide 1 pseudogene 8|ferritin, heavy polypeptide-like 8 20210611 - 9606 2502 FTH1P10 - FTHL10 HGNC:HGNC:3980|Ensembl:ENSG00000223361 5 5p15.1 ferritin heavy chain 1 pseudogene 10 pseudo FTH1P10 ferritin heavy chain 1 pseudogene 10 O ferritin, heavy polypeptide 1 pseudogene 10|ferritin, heavy polypeptide-like 10 20210611 - 9606 2503 FTH1P11 - FTHL11 HGNC:HGNC:3981 8 8q21.13 ferritin heavy chain 1 pseudogene 11 pseudo FTH1P11 ferritin heavy chain 1 pseudogene 11 O ferritin, heavy polypeptide 1 pseudogene 11|ferritin, heavy polypeptide-like 11 20210611 - 9606 2504 FTH1P12 - FTHL12 HGNC:HGNC:3982 9 9p22.3 ferritin heavy chain 1 pseudogene 12 pseudo FTH1P12 ferritin heavy chain 1 pseudogene 12 O ferritin, heavy polypeptide 1 pseudogene 12|ferritin, heavy polypeptide-like 12 20210611 - 9606 2507 FTH1P15 - FTHL15 HGNC:HGNC:3985 6 6p12.1 ferritin heavy chain 1 pseudogene 15 pseudo FTH1P15 ferritin heavy chain 1 pseudogene 15 O ferritin, heavy polypeptide 1 pseudogene 15|ferritin, heavy polypeptide-like 15 20210611 - 9606 2508 FTH1P16 - FTH2|FTHL16 HGNC:HGNC:3986 11 11q14.1 ferritin heavy chain 1 pseudogene 16 pseudo FTH1P16 ferritin heavy chain 1 pseudogene 16 O ferritin, heavy polypeptide 1 pseudogene 16|ferritin, heavy polypeptide-like 16 20210716 - 9606 2509 FTH1P5 - FTHL5|FTHP1 HGNC:HGNC:3996 6 6p12.3 ferritin heavy chain 1 pseudogene 5 pseudo FTH1P5 ferritin heavy chain 1 pseudogene 5 O ferritin, heavy polypeptide 1 pseudogene 5|ferritin, heavy polypeptide pseudogene 1|ferritin, heavy polypeptide-like 5 20210724 - 9606 2510 FTH1P21 - FTHL21|FTHP2 HGNC:HGNC:3997 4 4q32.1 ferritin heavy chain 1 pseudogene 21 pseudo FTH1P21 ferritin heavy chain 1 pseudogene 21 O ferritin, heavy polypeptide 1 pseudogene 21|ferritin, heavy polypeptide pseudogene 2|ferritin, heavy polypeptide-like 21 20210611 - 9606 2512 FTL - LFTD|NBIA3 MIM:134790|HGNC:HGNC:3999|Ensembl:ENSG00000087086 19 19q13.33 ferritin light chain protein-coding FTL ferritin light chain O ferritin light chain|epididymis secretory sperm binding protein|ferritin L subunit|ferritin L-chain|ferritin light polypeptide-like 3|ferritin, light polypeptide 20211031 - 9606 2515 ADAM2 - CRYN1|CRYN2|CT15|FTNB|PH-30b|PH30|PH30-beta MIM:601533|HGNC:HGNC:198|Ensembl:ENSG00000104755 8 8p11.22 ADAM metallopeptidase domain 2 protein-coding ADAM2 ADAM metallopeptidase domain 2 O disintegrin and metalloproteinase domain-containing protein 2|cancer/testis antigen 15|fertilin subunit beta 20210708 - 9606 2516 NR5A1 - AD4BP|ELP|FTZ1|FTZF1|POF7|SF-1|SF1|SPGF8|SRXX4|SRXY3|hSF-1 MIM:184757|HGNC:HGNC:7983|Ensembl:ENSG00000136931 9 9q33.3 nuclear receptor subfamily 5 group A member 1 protein-coding NR5A1 nuclear receptor subfamily 5 group A member 1 O steroidogenic factor 1|STF-1|adrenal 4 binding protein|fushi tarazu factor homolog 1|nuclear receptor AdBP4|steroid hormone receptor Ad4BP|steroidogenic factor 1 nuclear receptor|steroidogenic factor-1 20211031 - 9606 2517 FUCA1 - FUCA MIM:612280|HGNC:HGNC:4006|Ensembl:ENSG00000179163 1 1p36.11 alpha-L-fucosidase 1 protein-coding FUCA1 alpha-L-fucosidase 1 O tissue alpha-L-fucosidase|I+/--L-fucosidase 1|a-L-fucosidase 1|alpha-L-fucosidase I|alpha-L-fucoside fucohydrolase 1|fucosidase, alpha-L- 1, tissue|tissue fucosidase 20210708 - 9606 2518 FUCA1P1 - FUCA1P HGNC:HGNC:4007 2 2q31.1 alpha-L-fucosidase 1 pseudogene 1 pseudo FUCA1P1 alpha-L-fucosidase 1 pseudogene 1 O fucosidase, alpha-L- 1, tissue pseudogene 1 20210611 - 9606 2519 FUCA2 - dJ20N2.5 MIM:136820|HGNC:HGNC:4008|Ensembl:ENSG00000001036 6 6q24.2 alpha-L-fucosidase 2 protein-coding FUCA2 alpha-L-fucosidase 2 O plasma alpha-L-fucosidase|I+/--L-fucosidase 2|a-L-fucosidase 2|alpha-L-fucoside fucohydrolase 2|fucosidase, alpha-L- 2, plasma|plasma fucosidase 20210708 - 9606 2520 GAST - GAS MIM:137250|HGNC:HGNC:4164|Ensembl:ENSG00000184502 17 17q21.2 gastrin protein-coding GAST gastrin O gastrin|preprogastrin 20210809 - 9606 2521 FUS - ALS6|ETM4|FUS1|HNRNPP2|POMP75|TLS|altFUS MIM:137070|HGNC:HGNC:4010|Ensembl:ENSG00000089280 16 16p11.2 FUS RNA binding protein protein-coding FUS FUS RNA binding protein O RNA-binding protein FUS|75 kDa DNA-pairing protein|fus-like protein|fused in sarcoma|fusion gene in myxoid liposarcoma|heterogeneous nuclear ribonucleoprotein P2|oncogene FUS|oncogene TLS|translocated in liposarcoma protein 20211031 - 9606 2522 FUSE - - MIM:174750 10 - polykaryocytosis promoter unknown - - - Polykaryocytosis inducer 20200625 - 9606 2523 FUT1 - H|HH|HSC MIM:211100|HGNC:HGNC:4012|Ensembl:ENSG00000174951 19 19q13.33 fucosyltransferase 1 (H blood group) protein-coding FUT1 fucosyltransferase 1 (H blood group) O galactoside alpha-(1,2)-fucosyltransferase 1|GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1|H antigen|H glycosyltransferase|H glycosytransferase|alpha(1,2) fucosyltransferase 1|alpha(1,2)FT 1|blood group H alpha 2-fucosyltransferase|galactoside 2-L-fucosyltransferase enzyme|galactoside 2-alpha-L-fucosyltransferase|nonfunctional fucosyltransferase 1|truncated FUT1|truncated alpha(1,2)fucosyltransferase|truncated fucosyltransferase 1|type 1 galactoside alpha-(1,2)-fucosyltransferase FUT1|type 2 galactoside alpha-(1,2)-fucosyltransferase FUT1 20211017 - 9606 2524 FUT2 - B12QTL1|SE|SEC2|Se2|sej MIM:182100|HGNC:HGNC:4013|Ensembl:ENSG00000176920 19 19q13.33 fucosyltransferase 2 protein-coding FUT2 fucosyltransferase 2 O galactoside alpha-(1,2)-fucosyltransferase 2|GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2|alpha (1,2) fucosyltransferase|alpha(1,2)FT 2|alpha(1,2)FT2|fucosyltransferase 2 (secretor status included)|galactoside 2-L-fucosyltransferase|galactoside 2-alpha-L-fucosyltransferase 2|secretor blood group alpha-2-fucosyltransferase|secretor factor|truncated fucosyltransferase 2|type 1 galactoside alpha-(1,2)-fucosyltransferase FUT2|type 2 galactoside alpha-(1,2)-fucosyltransferase FUT2 20211031 - 9606 2525 FUT3 - CD174|FT3B|FucT-III|LE|Les MIM:111100|HGNC:HGNC:4014|Ensembl:ENSG00000171124 19 19p13.3 fucosyltransferase 3 (Lewis blood group) protein-coding FUT3 fucosyltransferase 3 (Lewis blood group) O 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3|Lewis FT|alpha-(1,3/1,4)-fucosyltransferase|alpha-3-fucosyltransferase FUT3|blood group Lewis alpha-4-fucosyltransferase|fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)|fucosyltransferase III|galactoside 3(4)-L-fucosyltransferase|truncated fucosyltransferase 3 20211031 - 9606 2526 FUT4 - CD15|ELFT|FCT3A|FUC-TIV|FUTIV|LeX|SSEA-1 MIM:104230|HGNC:HGNC:4015|Ensembl:ENSG00000196371 11 11q21 fucosyltransferase 4 protein-coding FUT4 fucosyltransferase 4 O alpha-(1,3)-fucosyltransferase 4|ELAM ligand fucosyltransferase|ELAM-1 ligand fucosyltransferase|Lewis X|alpha (1,3) fucosyltransferase, myeloid-specific|fucT-IV|fucosyltransferase IV|galactoside 3-L-fucosyltransferase|stage-specific embryonic antigen 1 20210822 - 9606 2527 FUT5 - FUC-TV MIM:136835|HGNC:HGNC:4016|Ensembl:ENSG00000130383 19 19p13.3 fucosyltransferase 5 protein-coding FUT5 fucosyltransferase 5 O 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5|3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT5|alpha (1,3) fucosyltransferase|alpha-(1,3)-fucosyltransferase 5|fucT-V|fucosyltransferase V|galactoside 3-L-fucosyltransferase 20210611 - 9606 2528 FUT6 - FCT3A|FT1A|Fuc-TVI|FucT-VI MIM:136836|HGNC:HGNC:4017|Ensembl:ENSG00000156413 19 19p13.3 fucosyltransferase 6 protein-coding FUT6 fucosyltransferase 6 O 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6|alpha-(1,3)-fucosyltransferase 6|fucosyltransferase 6 (alpha (1,3) fucosyltransferase)|fucosyltransferase VI|galactoside 3-L-fucosyltransferase 20210822 - 9606 2529 FUT7 - FucT-VII MIM:602030|HGNC:HGNC:4018|Ensembl:ENSG00000180549 9 9q34.3 fucosyltransferase 7 protein-coding FUT7 fucosyltransferase 7 O alpha-(1,3)-fucosyltransferase 7|fuc-TVII|fucosyltransferase 7 (alpha (1,3) fucosyltransferase)|fucosyltransferase VII|galactoside 3-L-fucosyltransferase|selectin-ligand synthase 20210611 - 9606 2530 FUT8 - CDGF|CDGF1 MIM:602589|HGNC:HGNC:4019|Ensembl:ENSG00000033170 14 14q23.3 fucosyltransferase 8 protein-coding FUT8 fucosyltransferase 8 O alpha-(1,6)-fucosyltransferase|GDP-L-Fuc:N-acetyl-beta-D-glucosaminide alpha1,6-fucosyltransferase|GDP-fucose--glycoprotein fucosyltransferase|alpha1-6FucT|fucosyltransferase 8 (alpha (1,6) fucosyltransferase)|glycoprotein 6-alpha-L-fucosyltransferase 20211017 - 9606 2531 KDSR - DHSR|EKVP4|FVT1|SDR35C1 MIM:136440|HGNC:HGNC:4021|Ensembl:ENSG00000119537 18 18q21.33 3-ketodihydrosphingosine reductase protein-coding KDSR 3-ketodihydrosphingosine reductase O 3-ketodihydrosphingosine reductase|3-dehydrosphinganine reductase|FVT-1|KDS reductase|follicular lymphoma variant translocation 1|follicular variant translocation protein 1|short chain dehydrogenase/reductase family 35C member 1 20210905 - 9606 2532 ACKR1 - CCBP1|CD234|DARC|DARC/ACKR1|Dfy|FY|GPD|GpFy|WBCQ1 MIM:613665|HGNC:HGNC:4035|Ensembl:ENSG00000213088 1 1q23.2 atypical chemokine receptor 1 (Duffy blood group) protein-coding ACKR1 atypical chemokine receptor 1 (Duffy blood group) O atypical chemokine receptor 1|Duffy antigen chemokine receptor|Duffy blood group antigen|Duffy blood group system protein|Duffy blood group, chemokine receptor|Fy glycoprotein|glycoprotein D|plasmodium vivax receptor 20210719 - 9606 2533 FYB1 - ADAP|FYB|PRO0823|SLAP-130|SLAP130|THC3 MIM:602731|HGNC:HGNC:4036|Ensembl:ENSG00000082074 5 5p13.1 FYN binding protein 1 protein-coding FYB1 FYN binding protein 1 O FYN-binding protein 1|FYB-120/130|FYN-T-binding protein|SLP-76-associated phosphoprotein|adhesion and degranulation-promoting adaptor protein|p120/p130 20210611 - 9606 2534 FYN - SLK|SYN|p59-FYN MIM:137025|HGNC:HGNC:4037|Ensembl:ENSG00000010810 6 6q21 FYN proto-oncogene, Src family tyrosine kinase protein-coding FYN FYN proto-oncogene, Src family tyrosine kinase O tyrosine-protein kinase Fyn|FYN oncogene related to SRC, FGR, YES|OKT3-induced calcium influx regulator|c-syn protooncogene|proto-oncogene Syn|proto-oncogene c-Fyn|src-like kinase|src/yes-related novel|tyrosine kinase p59fyn(T) 20211003 - 9606 2535 FZD2 - Fz2|OMOD2|fz-2|fzE2|hFz2 MIM:600667|HGNC:HGNC:4040|Ensembl:ENSG00000180340 17 17q21.31 frizzled class receptor 2 protein-coding FZD2 frizzled class receptor 2 O frizzled-2|frizzled 2, seven transmembrane spanning receptor|frizzled family receptor 2|frizzled homolog 2 20210708 - 9606 2537 IFI6 - 6-16|FAM14C|G1P3|IFI-6-16|IFI616 MIM:147572|HGNC:HGNC:4054|Ensembl:ENSG00000126709 1 1p35.3 interferon alpha inducible protein 6 protein-coding IFI6 interferon alpha inducible protein 6 O interferon alpha-inducible protein 6|interferon, alpha-inducible protein clone IFI-6-16|interferon-induced protein 6-16 20210926 - 9606 2538 G6PC1 - G6PC|G6PT|G6Pase|GSD1|GSD1a MIM:613742|HGNC:HGNC:4056|Ensembl:ENSG00000131482 17 17q21.31 glucose-6-phosphatase catalytic subunit 1 protein-coding G6PC1 glucose-6-phosphatase catalytic subunit 1 O glucose-6-phosphatase catalytic subunit 1|G-6-Pase|G6Pase-alpha|glucose-6-phosphatase alpha 20210809 - 9606 2539 G6PD - G6PD1 MIM:305900|HGNC:HGNC:4057|Ensembl:ENSG00000160211 X Xq28 glucose-6-phosphate dehydrogenase protein-coding G6PD glucose-6-phosphate dehydrogenase O glucose-6-phosphate 1-dehydrogenase|epididymis secretory sperm binding protein 20211026 - 9606 2541 G6PR - GSD1aSP HGNC:HGNC:4059 - - glucose-6-phosphatase regulator protein-coding G6PR glucose-6-phosphatase regulator O glucose-6-phosphatase regulator|glucose-6-phosphatase, regulatory 20190324 - 9606 2542 SLC37A4 - CDG2W|G6PT1|G6PT2|G6PT3|GSD1b|GSD1c|GSD1d|PRO0685|TRG-19|TRG19 MIM:602671|HGNC:HGNC:4061|Ensembl:ENSG00000137700 11 11q23.3 solute carrier family 37 member 4 protein-coding SLC37A4 solute carrier family 37 member 4 O glucose-6-phosphate exchanger SLC37A4|glucose-5-phosphate transporter|glucose-6-phosphatase, transport (glucose) protein 3|glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1|glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2|glucose-6-phosphate translocase|microsomal glucose-6-phosphate transporter|solute carrier family 37 (glucose-6-phosphate transporter), member 4|transformation-related gene 19 protein 20211028 - 9606 2543 GAGE1 - CT4.1|CT4.4|GAGE-1|GAGE-4|GAGE4 MIM:300594|HGNC:HGNC:4098|Ensembl:ENSG00000205777 X Xp11.23 G antigen 1 protein-coding GAGE1 G antigen 1 O G antigen 1|Cancer/testis antigen 4.4|G antigen 4|MZ2-F antigen|cancer/testis antigen 4.1|cancer/testis antigen family 4, member 1 20210611 - 9606 2547 XRCC6 - CTC75|CTCBF|G22P1|KU70|ML8|TLAA MIM:152690|HGNC:HGNC:4055|Ensembl:ENSG00000196419 22 22q13.2 X-ray repair cross complementing 6 protein-coding XRCC6 X-ray repair cross complementing 6 O X-ray repair cross-complementing protein 6|5'-dRP lyase Ku70|5'-deoxyribose-5-phosphate lyase Ku70|70 kDa subunit of Ku antigen|ATP-dependent DNA helicase 2 subunit 1|ATP-dependent DNA helicase II, 70 kDa subunit|CTC box binding factor 75 kDa subunit|DNA repair protein XRCC6|Ku autoantigen p70 subunit|Ku autoantigen, 70kDa|X-ray repair complementing defective repair in Chinese hamster cells 6|lupus Ku autoantigen protein p70|thyroid autoantigen 70kD (Ku antigen)|thyroid autoantigen 70kDa (Ku antigen)|thyroid-lupus autoantigen p70 20210905 - 9606 2548 GAA - LYAG MIM:606800|HGNC:HGNC:4065|Ensembl:ENSG00000171298 17 17q25.3 alpha glucosidase protein-coding GAA alpha glucosidase O lysosomal alpha-glucosidase|acid maltase|aglucosidase alfa|glucosidase alpha, acid 20211026 - 9606 2549 GAB1 - DFNB26 MIM:604439|HGNC:HGNC:4066|Ensembl:ENSG00000109458 4 4q31.21 GRB2 associated binding protein 1 protein-coding GAB1 GRB2 associated binding protein 1 O GRB2-associated-binding protein 1|GRB2-associated binder 1|deafness, autosomal recessive 26|growth factor receptor bound protein 2-associated protein 1|symbol withdrawn, see GAB1 20210719 - 9606 2550 GABBR1 - GABABR1|GABBR1-3|GB1|GPRC3A MIM:603540|HGNC:HGNC:4070|Ensembl:ENSG00000204681 6 6p22.1 gamma-aminobutyric acid type B receptor subunit 1 protein-coding GABBR1 gamma-aminobutyric acid type B receptor subunit 1 O gamma-aminobutyric acid type B receptor subunit 1|GABA-B receptor, R1 subunit|gamma-aminobutyric acid (GABA) B receptor, 1|seven transmembrane helix receptor 20210708 - 9606 2551 GABPA - E4TF1-60|E4TF1A|NFT2|NRF2|NRF2A|RCH04A07 MIM:600609|HGNC:HGNC:4071|Ensembl:ENSG00000154727 21 21q21.3 GA binding protein transcription factor subunit alpha protein-coding GABPA GA binding protein transcription factor subunit alpha O GA-binding protein alpha chain|GA binding protein transcription factor alpha subunit 60kDa|GABP subunit alpha|human nuclear respiratory factor-2 subunit alpha|nuclear respiratory factor 2 alpha subunit|nuclear respiratory factor 2 subunit alpha|transcription factor E4TF1-60 20210708 - 9606 2553 GABPB1 - BABPB2|E4TF1|E4TF1-47|E4TF1-53|E4TF1B|GABPB|GABPB-1|GABPB2|NRF2B1|NRF2B2 MIM:600610|HGNC:HGNC:4074|Ensembl:ENSG00000104064 15 15q21.2 GA binding protein transcription factor subunit beta 1 protein-coding GABPB1 GA binding protein transcription factor subunit beta 1 O GA-binding protein subunit beta-1|GA binding protein transcription factor beta subunit 1 transcript variant gamma-2|GABP subunit beta-2|nuclear respiratory factor 2|transcription factor E4TF1-47|transcription factor E4TF1-53 20211026 - 9606 2554 GABRA1 - DEE19|ECA4|EIEE19|EJM|EJM5 MIM:137160|HGNC:HGNC:4075|Ensembl:ENSG00000022355 5 5q34 gamma-aminobutyric acid type A receptor subunit alpha1 protein-coding GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 O gamma-aminobutyric acid receptor subunit alpha-1|GABA(A) receptor subunit alpha-1|GABA(A) receptor, alpha 1|gamma-aminobutyric acid (GABA) A receptor, alpha 1|gamma-aminobutyric acid type A receptor alpha1 subunit 20211106 - 9606 2555 GABRA2 - DEE78|EIEE78 MIM:137140|HGNC:HGNC:4076|Ensembl:ENSG00000151834 4 4p12 gamma-aminobutyric acid type A receptor subunit alpha2 protein-coding GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 O gamma-aminobutyric acid receptor subunit alpha-2|GABA(A) receptor subunit alpha-2|gamma-aminobutyric acid type A receptor alpha2 subunit 20210710 - 9606 2556 GABRA3 - - MIM:305660|HGNC:HGNC:4077|Ensembl:ENSG00000011677 X Xq28 gamma-aminobutyric acid type A receptor subunit alpha3 protein-coding GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 O gamma-aminobutyric acid receptor subunit alpha-3|GABA(A) receptor subunit alpha-3|GABA(A) receptor, alpha 3|gamma-aminobutyric acid (GABA) A receptor, alpha 3|gamma-aminobutyric acid type A receptor alpha3 subunit|gamma-animobutyric acid (GABA) A receptor, alpha 3 20210611 - 9606 2557 GABRA4 - - MIM:137141|HGNC:HGNC:4078|Ensembl:ENSG00000109158 4 4p12 gamma-aminobutyric acid type A receptor subunit alpha4 protein-coding GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 O gamma-aminobutyric acid receptor subunit alpha-4|GABA(A) receptor, alpha 4|gamma-aminobutyric acid (GABA) A receptor, alpha 4|gamma-aminobutyric acid A receptor alpha 4|gamma-aminobutyric acid type A receptor alpha4 subunit 20210611 - 9606 2558 GABRA5 - DEE79|EIEE79 MIM:137142|HGNC:HGNC:4079|Ensembl:ENSG00000186297 15 15q12 gamma-aminobutyric acid type A receptor subunit alpha5 protein-coding GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 O gamma-aminobutyric acid receptor subunit alpha-5|GABA(A) receptor subunit alpha-5|gamma-aminobutyric acid (GABA) A receptor, alpha 5|gamma-aminobutyric acid type A receptor alpha5 subunit 20210611 - 9606 2559 GABRA6 - - MIM:137143|HGNC:HGNC:4080|Ensembl:ENSG00000145863 5 5q34 gamma-aminobutyric acid type A receptor subunit alpha6 protein-coding GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 O gamma-aminobutyric acid receptor subunit alpha-6|GABA subunit A receptor alpha 6|GABA(A) receptor subunit alpha-6|GABA(A) receptor, alpha 6|gamma-aminobutyric acid (GABA) A receptor, alpha 6|gamma-aminobutyric acid type A receptor alpha6 subunit 20210611 - 9606 2560 GABRB1 - DEE45|EIEE45 MIM:137190|HGNC:HGNC:4081|Ensembl:ENSG00000163288 4 4p12 gamma-aminobutyric acid type A receptor subunit beta1 protein-coding GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 O gamma-aminobutyric acid receptor subunit beta-1|gamma-aminobutyric acid (GABA) A receptor, beta 1|gamma-aminobutyric acid type A receptor beta1 subunit 20210611 - 9606 2561 GABRB2 - DEE92|ICEE2 MIM:600232|HGNC:HGNC:4082|Ensembl:ENSG00000145864 5 5q34 gamma-aminobutyric acid type A receptor subunit beta2 protein-coding GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 O gamma-aminobutyric acid receptor subunit beta-2|GABA(A) receptor subunit beta-2|gamma-aminobutyric acid A receptor beta 2|gamma-aminobutyric acid type A receptor beta2 subunit 20210704 - 9606 2562 GABRB3 - DEE43|ECA5|EIEE43 MIM:137192|HGNC:HGNC:4083|Ensembl:ENSG00000166206 15 15q12 gamma-aminobutyric acid type A receptor subunit beta3 protein-coding GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 O gamma-aminobutyric acid receptor subunit beta-3|GABA-alpha receptor beta-2 subunit|GABAA receptor beta-3 subunit|gamma-aminobutyric acid (GABA) A receptor, beta 3|gamma-aminobutyric acid A receptor beta 3|gamma-aminobutyric acid type A receptor beta3 subunit 20210731 - 9606 2563 GABRD - EIG10|EJM7|GEFSP5 MIM:137163|HGNC:HGNC:4084|Ensembl:ENSG00000187730 1 1p36.33 gamma-aminobutyric acid type A receptor subunit delta protein-coding GABRD gamma-aminobutyric acid type A receptor subunit delta O gamma-aminobutyric acid receptor subunit delta|GABA(A) receptor subunit delta|GABA(A) receptor, delta|GABA-A receptor, delta polypeptide|gamma-aminobutyric acid (GABA) A receptor, delta|gamma-aminobutyric acid type A receptor delta subunit 20210612 - 9606 2564 GABRE - - MIM:300093|HGNC:HGNC:4085|Ensembl:ENSG00000102287 X Xq28 gamma-aminobutyric acid type A receptor subunit epsilon protein-coding GABRE gamma-aminobutyric acid type A receptor subunit epsilon O gamma-aminobutyric acid receptor subunit epsilon|GABA(A) receptor subunit epsilon|GABA(A) receptor, epsilon|gamma-aminobutyric acid (GABA) A receptor, epsilon|gamma-aminobutyric acid type A receptor epsilon subunit 20210611 - 9606 2565 GABRG1 - - MIM:137166|HGNC:HGNC:4086|Ensembl:ENSG00000163285 4 4p12 gamma-aminobutyric acid type A receptor subunit gamma1 protein-coding GABRG1 gamma-aminobutyric acid type A receptor subunit gamma1 O gamma-aminobutyric acid receptor subunit gamma-1|GABA(A) receptor subunit gamma-1|GABA(A) receptor, gamma|gamma-1 polypeptide|gamma-aminobutyric acid (GABA) A receptor, gamma 1|gamma-aminobutyric acid type A receptor gamma1 subunit 20210611 - 9606 2566 GABRG2 - CAE2|DEE74|ECA2|EIEE74|FEB8|GEFSP3 MIM:137164|HGNC:HGNC:4087|Ensembl:ENSG00000113327 5 5q34 gamma-aminobutyric acid type A receptor subunit gamma2 protein-coding GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 O gamma-aminobutyric acid receptor subunit gamma-2|GABA(A) receptor subunit gamma-2|GABA(A) receptor, gamma 2|gamma-aminobutyric acid (GABA) A receptor, gamma 2|gamma-aminobutyric acid type A receptor gamma2 subunit 20210926 - 9606 2567 GABRG3 - - MIM:600233|HGNC:HGNC:4088|Ensembl:ENSG00000182256 15 15q12 gamma-aminobutyric acid type A receptor subunit gamma3 protein-coding GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 O gamma-aminobutyric acid receptor subunit gamma-3|GABA(A) receptor subunit gamma-3|GABA(G) receptor, gamma 3|gamma-aminobutyric acid (GABA) A receptor, gamma 3|gamma-aminobutyric acid type A receptor gamma3 subunit 20210822 - 9606 2568 GABRP - - MIM:602729|HGNC:HGNC:4089|Ensembl:ENSG00000094755 5 5q35.1 gamma-aminobutyric acid type A receptor subunit pi protein-coding GABRP gamma-aminobutyric acid type A receptor subunit pi O gamma-aminobutyric acid receptor subunit pi|GABA(A) receptor subunit pi|GABA(A) receptor, pi|gamma-aminobutyric acid (GABA) A receptor, pi|gamma-aminobutyric acid type A receptor pi subunit 20210816 - 9606 2569 GABRR1 - - MIM:137161|HGNC:HGNC:4090|Ensembl:ENSG00000146276 6 6q15 gamma-aminobutyric acid type A receptor subunit rho1 protein-coding GABRR1 gamma-aminobutyric acid type A receptor subunit rho1 O gamma-aminobutyric acid receptor subunit rho-1|GABA(A) receptor subunit rho-1|GABA(A) receptor, rho 1|GABA(C) receptor|bA135P14.1 (gamma-aminobutyric acid (GABA) receptor, rho 1)|gamma-aminobutyric acid (GABA) A receptor, rho-1|gamma-aminobutyric acid (GABA) receptor, rho 1|gamma-aminobutyric acid type A receptor rho1 subunit 20210611 - 9606 2570 GABRR2 - - MIM:137162|HGNC:HGNC:4091|Ensembl:ENSG00000111886 6 6q15 gamma-aminobutyric acid type A receptor subunit rho2 protein-coding GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 O gamma-aminobutyric acid receptor subunit rho-2|GABA-C receptor, rho-2 subunit|gamma-aminobutyric acid (GABA) A receptor, rho 2|gamma-aminobutyric acid type A receptor rho2 subunit 20210611 - 9606 2571 GAD1 - CPSQ1|DEE89|GAD|SCP MIM:605363|HGNC:HGNC:4092|Ensembl:ENSG00000128683 2 2q31.1 glutamate decarboxylase 1 protein-coding GAD1 glutamate decarboxylase 1 O glutamate decarboxylase 1|67 kDa glutamic acid decarboxylase|GAD-67|glutamate decarboxylase 1 (brain, 67kDa) 20211031 - 9606 2572 GAD2 - GAD65 MIM:138275|HGNC:HGNC:4093|Ensembl:ENSG00000136750 10 10p12.1 glutamate decarboxylase 2 protein-coding GAD2 glutamate decarboxylase 2 O glutamate decarboxylase 2|65 kDa glutamic acid decarboxylase|GAD-65|Glutamate decarboxylase-2 (pancreas)|glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 20210822 - 9606 2574 GAGE2C - CT4.2|GAGE-2|GAGE-2C|GAGE2 MIM:300595|HGNC:HGNC:31958 X Xp11.23 G antigen 2C protein-coding GAGE2C G antigen 2C O G antigen 2B/2C|G antigen 2|cancer/testis antigen 4.2 20210724 - 9606 2576 GAGE4 - CT4.4 MIM:300597|HGNC:HGNC:4101 X Xp11.4-p11.2 G antigen 4 protein-coding GAGE4 G antigen 4 O G antigen 4|GAGE-4|cancer/testis antigen 4.4|cancer/testis antigen family 4, member 4 20210724 - 9606 2577 GAGE5 - CT4.5 MIM:300598|HGNC:HGNC:4102 X Xp11.4-p11.2 G antigen 5 protein-coding GAGE5 G antigen 5 O G antigen 5|GAGE-5|cancer/testis antigen 4.5|cancer/testis antigen family 4, member 5 20210724 - 9606 2578 GAGE6 - CT4.6 MIM:300599|HGNC:HGNC:4103 X Xp11.4-p11.2 G antigen 6 protein-coding GAGE6 G antigen 6 O G antigen 6|GAGE-6|cancer/testis antigen 4.6|cancer/testis antigen family 4, member 6 20210724 - 9606 2579 GAGE7 - AL4|CT4.7|GAGE-7 MIM:300601|HGNC:HGNC:4104 X Xp11.4-p11.2 G antigen 7 protein-coding GAGE7 G antigen 7 O G antigen 12G|cancer/testis antigen 4.7|cancer/testis antigen family 4, member 7 20210724 - 9606 2580 GAK - DNAJ26|DNAJC26 MIM:602052|HGNC:HGNC:4113|Ensembl:ENSG00000178950 4 4p16.3 cyclin G associated kinase protein-coding GAK cyclin G associated kinase O cyclin-G-associated kinase|auxilin-2 20211028 - 9606 2581 GALC - - MIM:606890|HGNC:HGNC:4115|Ensembl:ENSG00000054983 14 14q31.3 galactosylceramidase protein-coding GALC galactosylceramidase O galactocerebrosidase|GALCERase|galactocerebroside beta-galactosidase|galactosylceramide beta-galactosidase|galactosylceraminidase|testis tissue sperm-binding protein Li 88E|testis tissue sperm-binding protein Li 89A 20211002 - 9606 2582 GALE - SDR1E1 MIM:606953|HGNC:HGNC:4116|Ensembl:ENSG00000117308 1 1p36.11 UDP-galactose-4-epimerase protein-coding GALE UDP-galactose-4-epimerase O UDP-glucose 4-epimerase|UDP galactose-4'-epimerase|UDP-GalNAc 4-epimerase|UDP-GlcNAc 4-epimerase|UDP-N-acetylgalactosamine 4-epimerase|UDP-N-acetylglucosamine 4-epimerase|epididymis secretory sperm binding protein|galactose-4-epimerase, UDP-|galactowaldenase|short chain dehydrogenase/reductase family 1E, member 1 20210905 - 9606 2583 B4GALNT1 - GALGT|GALNACT|GalNAc-T|SPG26 MIM:601873|HGNC:HGNC:4117|Ensembl:ENSG00000135454 12 12q13.3 beta-1,4-N-acetyl-galactosaminyltransferase 1 protein-coding B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 O beta-1,4 N-acetylgalactosaminyltransferase 1|GD2 synthase, GM2 synthase|GM2/GD2 synthase|UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1|UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)|beta-1,4-N-acetyl-galactosaminyl transferase 1|beta1,4GalNAc-T 20211003 - 9606 2584 GALK1 - GALK|GK1|HEL-S-19 MIM:604313|HGNC:HGNC:4118|Ensembl:ENSG00000108479 17 17q25.1 galactokinase 1 protein-coding GALK1 galactokinase 1 O galactokinase|epididymis secretory protein Li 19|galactose kinase 20210708 - 9606 2585 GALK2 - GK2 MIM:137028|HGNC:HGNC:4119|Ensembl:ENSG00000156958 15 15q21.1-q21.2 galactokinase 2 protein-coding GALK2 galactokinase 2 O N-acetylgalactosamine kinase|galNAc kinase 20211016 - 9606 2587 GALR1 - GALNR|GALNR1 MIM:600377|HGNC:HGNC:4132|Ensembl:ENSG00000166573 18 18q23 galanin receptor 1 protein-coding GALR1 galanin receptor 1 O galanin receptor type 1|GAL1-R|GALR-1 20211009 - 9606 2588 GALNS - GALNAC6S|GAS|GalN6S|MPS4A MIM:612222|HGNC:HGNC:4122|Ensembl:ENSG00000141012 16 16q24.3 galactosamine (N-acetyl)-6-sulfatase protein-coding GALNS galactosamine (N-acetyl)-6-sulfatase O N-acetylgalactosamine-6-sulfatase|N-acetylgalactosamine-6-sulfate sulfatase|chondroitinase|chondroitinsulfatase|galNAc6S sulfatase|galactosamine (N-acetyl)-6-sulfate sulfatase|galactose-6-sulfate sulfatase 20210822 - 9606 2589 GALNT1 - GALNAC-T1 MIM:602273|HGNC:HGNC:4123|Ensembl:ENSG00000141429 18 18q12.2 polypeptide N-acetylgalactosaminyltransferase 1 protein-coding GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 O polypeptide N-acetylgalactosaminyltransferase 1|GalNAc transferase 1|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)|polypeptide GalNAc transferase 1|pp-GaNTase 1|protein-UDP acetylgalactosaminyltransferase 1 20210708 - 9606 2590 GALNT2 - CDG2T|GalNAc-T2 MIM:602274|HGNC:HGNC:4124|Ensembl:ENSG00000143641 1 1q42.13 polypeptide N-acetylgalactosaminyltransferase 2 protein-coding GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 O polypeptide N-acetylgalactosaminyltransferase 2|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)|polypeptide GalNAc transferase 2|pp-GaNTase 2 20211009 - 9606 2591 GALNT3 - GalNAc-T3|HFTC|HFTC1|HHS MIM:601756|HGNC:HGNC:4125|Ensembl:ENSG00000115339 2 2q24.3 polypeptide N-acetylgalactosaminyltransferase 3 protein-coding GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 O polypeptide N-acetylgalactosaminyltransferase 3|GalNAc transferase 3|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)|polypeptide GalNAc transferase 3|polypeptide GalNAc-transferase T3|pp-GaNTase 3|protein-UDP acetylgalactosaminyltransferase 3 20210708 - 9606 2592 GALT - - MIM:606999|HGNC:HGNC:4135|Ensembl:ENSG00000213930 9 9p13.3 galactose-1-phosphate uridylyltransferase protein-coding GALT galactose-1-phosphate uridylyltransferase O galactose-1-phosphate uridylyltransferase|UDP-glucose--hexose-1-phosphate uridylyltransferase|gal-1-P uridylyltransferase|galactose-1-phosphate uridyl transferase 20211017 - 9606 2593 GAMT - CCDS2|HEL-S-20|PIG2|TP53I2 MIM:601240|HGNC:HGNC:4136|Ensembl:ENSG00000130005 19 19p13.3 guanidinoacetate N-methyltransferase protein-coding GAMT guanidinoacetate N-methyltransferase O guanidinoacetate N-methyltransferase|epididymis secretory protein Li 20 20210708 - 9606 2595 GANC - - MIM:104180|HGNC:HGNC:4139|Ensembl:ENSG00000214013 15 15q15.1 glucosidase alpha, neutral C protein-coding GANC glucosidase alpha, neutral C O neutral alpha-glucosidase C 20210807 - 9606 2596 GAP43 - B-50|GAP-43|PP46 MIM:162060|HGNC:HGNC:4140|Ensembl:ENSG00000172020 3 3q13.31 growth associated protein 43 protein-coding GAP43 growth associated protein 43 O neuromodulin|axonal membrane protein GAP-43|calmodulin-binding protein P-57|nerve growth-related peptide GAP43|neural phosphoprotein B-50|neuron growth-associated protein 43|protein F1 20210919 - 9606 2597 GAPDH - G3PD|GAPD|HEL-S-162eP MIM:138400|HGNC:HGNC:4141|Ensembl:ENSG00000111640 12 12p13.31 glyceraldehyde-3-phosphate dehydrogenase protein-coding GAPDH glyceraldehyde-3-phosphate dehydrogenase O glyceraldehyde-3-phosphate dehydrogenase|OCAS, p38 component|Oct1 coactivator in S phase, 38 Kd component|aging-associated gene 9 protein|epididymis secretory sperm binding protein Li 162eP|peptidyl-cysteine S-nitrosylase GAPDH 20210906 - 9606 2601 GAPDHP60 - GAPDHL4|GAPDL4 HGNC:HGNC:4153 4 4q22.1 glyceraldehyde-3-phosphate dehydrogenase pseudogene 60 pseudo GAPDHP60 glyceraldehyde-3-phosphate dehydrogenase pseudogene 60 O glyceraldehyde-3-phosphate dehydrogenase-like 4, pseudogene 20210611 - 9606 2609 GAPDHP67 - GAPDHL12|GAPDL12 HGNC:HGNC:4145 X Xq26.3 glyceraldehyde 3 phosphate dehydrogenase pseudogene 67 pseudo GAPDHP67 glyceraldehyde 3 phosphate dehydrogenase pseudogene 67 O glyceraldehyde-3-phosphate dehydrogenase-like 12, pseudogene 20210611 - 9606 2611 GAPDHP69 - GAPDHL14|GAPDL14 HGNC:HGNC:4147 13 13q12.3 glyceraldehyde 3 phosphate dehydrogenase pseudogene 69 pseudo GAPDHP69 glyceraldehyde 3 phosphate dehydrogenase pseudogene 69 O glyceraldehyde-3-phosphate dehydrogenase-like 14, pseudogene 20210611 - 9606 2613 GAPDHP71 - GAPDHL16|GAPDL16 HGNC:HGNC:4149 5 5q35.2 glyceraldehyde-3-phosphate dehydrogenase pseudogene 71 pseudo GAPDHP71 glyceraldehyde-3-phosphate dehydrogenase pseudogene 71 O glyceraldehyde-3-phosphate dehydrogenase-like 16, pseudogene 20210611 - 9606 2615 LRRC32 - CPPRDD|D11S833E|GARP MIM:137207|HGNC:HGNC:4161|Ensembl:ENSG00000137507 11 11q13.5 leucine rich repeat containing 32 protein-coding LRRC32 leucine rich repeat containing 32 O transforming growth factor beta activator LRRC32|garpin|glycoprotein A repetitions predominant|leucine-rich repeat-containing protein 32 20211017 - 9606 2616 GAPDHP1 - GAPDHL2|GAPDL2|GAPDP1 HGNC:HGNC:4159 X Xp11.4 glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 pseudo GAPDHP1 glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 O glyceraldehyde-3-phosphate dehydrogenase-like 2 20210611 - 9606 2617 GARS1 - CMT2D|DSMAV|GARS|GlyRS|HMN5|HMN5A|SMAD1|SMAJI MIM:600287|HGNC:HGNC:4162|Ensembl:ENSG00000106105 7 7p14.3 glycyl-tRNA synthetase 1 protein-coding GARS1 glycyl-tRNA synthetase 1 O glycine--tRNA ligase|AP-4-A synthetase|Charcot-Marie-Tooth neuropathy 2D|Charcot-Marie-Tooth neuropathy, neuronal type, D|ap4A synthetase|diadenosine tetraphosphate synthetase 20210905 - 9606 2618 GART - AIRS|GARS|GARTF|PAIS|PGFT|PRGS MIM:138440|HGNC:HGNC:4163|Ensembl:ENSG00000159131 21 21q22.11 phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase protein-coding GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase O trifunctional purine biosynthetic protein adenosine-3|GAR transformylase|GARS-AIRS-GART|glycinamide ribonucleotide formyltransferase|glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase 20210808 - 9606 2619 GAS1 - - MIM:139185|HGNC:HGNC:4165|Ensembl:ENSG00000180447 9 9q21.33 growth arrest specific 1 protein-coding GAS1 growth arrest specific 1 O growth arrest-specific protein 1|GAS-1|Growth arrest-specific gene-1 20210611 - 9606 2620 GAS2 - GAS-2 MIM:602835|HGNC:HGNC:4167|Ensembl:ENSG00000148935 11 11p14.3 growth arrest specific 2 protein-coding GAS2 growth arrest specific 2 O growth arrest-specific protein 2 20211003 - 9606 2621 GAS6 - AXLLG|AXSF MIM:600441|HGNC:HGNC:4168|Ensembl:ENSG00000183087 13 13q34 growth arrest specific 6 protein-coding GAS6 growth arrest specific 6 O growth arrest-specific protein 6|AXL receptor tyrosine kinase ligand|AXL stimulatory factor 20211031 - 9606 2622 GAS8 - CILD33|DRC4|GAS11 MIM:605178|HGNC:HGNC:4166|Ensembl:ENSG00000141013 16 16q24.3 growth arrest specific 8 protein-coding GAS8 growth arrest specific 8 O dynein regulatory complex subunit 4|GAS-11|epididymis secretory sperm binding protein|growth arrest-specific protein 11|growth arrest-specific protein 8 20210705 - 9606 2623 GATA1 - ERYF1|GATA-1|GF-1|GF1|NF-E1|NFE1|XLANP|XLTDA|XLTT MIM:305371|HGNC:HGNC:4170|Ensembl:ENSG00000102145 X Xp11.23 GATA binding protein 1 protein-coding GATA1 GATA binding protein 1 O erythroid transcription factor|GATA-binding factor 1|NF-E1 DNA-binding protein|erythroid transcription factor 1|globin transcription factor 1|nuclear factor, erythroid 1|transcription factor GATA1 20211031 - 9606 2624 GATA2 - DCML|IMD21|MONOMAC|NFE1B MIM:137295|HGNC:HGNC:4171|Ensembl:ENSG00000179348 3 3q21.3 GATA binding protein 2 protein-coding GATA2 GATA binding protein 2 O endothelial transcription factor GATA-2 20211028 - 9606 2625 GATA3 - HDR|HDRS MIM:131320|HGNC:HGNC:4172|Ensembl:ENSG00000107485 10 10p14 GATA binding protein 3 protein-coding GATA3 GATA binding protein 3 O trans-acting T-cell-specific transcription factor GATA-3|GATA-binding factor 3 20211031 - 9606 2626 GATA4 - ASD2|TACHD|TOF|VSD1 MIM:600576|HGNC:HGNC:4173|Ensembl:ENSG00000136574 8 8p23.1 GATA binding protein 4 protein-coding GATA4 GATA binding protein 4 O transcription factor GATA-4|GATA-binding factor 4 20211028 - 9606 2627 GATA6 - - MIM:601656|HGNC:HGNC:4174|Ensembl:ENSG00000141448 18 18q11.2 GATA binding protein 6 protein-coding GATA6 GATA binding protein 6 O transcription factor GATA-6|GATA-binding factor 6 20211028 - 9606 2628 GATM - AGAT|AT|CCDS3|FRTS1 MIM:602360|HGNC:HGNC:4175|Ensembl:ENSG00000171766 15 15q21.1 glycine amidinotransferase protein-coding GATM glycine amidinotransferase O glycine amidinotransferase, mitochondrial|glycine amidinotransferase (L-arginine:glycine amidinotransferase)|testicular secretory protein Li 19|transamidinase 20211026 - 9606 2629 GBA - GBA1|GCB|GLUC MIM:606463|HGNC:HGNC:4177|Ensembl:ENSG00000177628 1 1q22 glucosylceramidase beta protein-coding GBA glucosylceramidase beta O lysosomal acid glucosylceramidase|D-glucosyl-N-acylsphingosine glucohydrolase|SGTase|acid beta-glucosidase|alglucerase|beta-GC|beta-glucocerebrosidase|cholesterol glucosyltransferase|cholesteryl-beta-glucosidase|glucocerebrosidase|glucosidase, beta, acid|glucosylceramidase-like protein|imiglucerase|lysosomal acid GCase|lysosomal glucocerebrosidase 20211026 - 9606 2630 GBAP1 - Beta-GC|GBA|GBAP|GC|GLUC HGNC:HGNC:4178|Ensembl:ENSG00000160766 1 1q22 glucosylceramidase beta pseudogene 1 pseudo GBAP1 glucosylceramidase beta pseudogene 1 O Acid beta-glucosidase|Alglucerase|Beta-glucocerebrosidase|D-glucosyl-N-acylsphingosine glucohydrolase|Imiglucerase|glucosidase, beta, acid pseudogene 1|glucosidase, beta; acid, pseudogene|glucosylceramidase-like protein 20210611 - 9606 2631 NIPSNAP2 - GBAS MIM:603004|HGNC:HGNC:4179|Ensembl:ENSG00000146729 7 7p11.2 nipsnap homolog 2 protein-coding NIPSNAP2 nipsnap homolog 2 O protein NipSnap homolog 2|4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 2|glioblastoma amplified sequence 20211017 - 9606 2632 GBE1 - APBD|GBE|GSD4 MIM:607839|HGNC:HGNC:4180|Ensembl:ENSG00000114480 3 3p12.2 1,4-alpha-glucan branching enzyme 1 protein-coding GBE1 1,4-alpha-glucan branching enzyme 1 O 1,4-alpha-glucan-branching enzyme|amylo-(1,4 to 1,6) transglucosidase|amylo-(1,4 to 1,6) transglycosylase|brancher enzyme|glucan (1,4-alpha-), branching enzyme 1|glycogen branching enzyme 20211017 - 9606 2633 GBP1 - - MIM:600411|HGNC:HGNC:4182|Ensembl:ENSG00000117228 1 1p22.2 guanylate binding protein 1 protein-coding GBP1 guanylate binding protein 1 O guanylate-binding protein 1|GBP-1|GTP-binding protein 1|guanine nucleotide-binding protein 1|guanylate binding protein 1, interferon-inducible, 67kDa|huGBP-1|interferon-induced guanylate-binding protein 1 20211031 - 9606 2634 GBP2 - - MIM:600412|HGNC:HGNC:4183|Ensembl:ENSG00000162645 1 1p22.2 guanylate binding protein 2 protein-coding GBP2 guanylate binding protein 2 O guanylate-binding protein 2|GTP-binding protein 2|guanine nucleotide-binding protein 2|guanylate binding protein 2, interferon-inducible|interferon-induced guanylate-binding protein 2 20210708 - 9606 2635 GBP3 - - MIM:600413|HGNC:HGNC:4184|Ensembl:ENSG00000117226 1 1p22.2 guanylate binding protein 3 protein-coding GBP3 guanylate binding protein 3 O guanylate-binding protein 3|GTP-binding protein 3|guanine nucleotide-binding protein 3|guanylate-binding protein 3 delta C 20211016 - 9606 2636 GBX1 - Huh-17 MIM:603354|HGNC:HGNC:4185|Ensembl:ENSG00000164900 7 7q36.1 gastrulation brain homeobox 1 protein-coding GBX1 gastrulation brain homeobox 1 O homeobox protein GBX-1|gastrulation and brain-specific homeobox protein 1 20210611 - 9606 2637 GBX2 - - MIM:601135|HGNC:HGNC:4186|Ensembl:ENSG00000168505 2 2q37.2 gastrulation brain homeobox 2 protein-coding GBX2 gastrulation brain homeobox 2 O homeobox protein GBX-2|gastrulation and brain-specific homeobox protein 2 20210611 - 9606 2638 GC - DBP|DBP-maf|DBP/GC|GRD3|Gc-MAF|GcMAF|HEL-S-51|VDB|VDBG|VDBP MIM:139200|HGNC:HGNC:4187|Ensembl:ENSG00000145321 4 4q13.3 GC vitamin D binding protein protein-coding GC GC vitamin D binding protein O vitamin D-binding protein|epididymis secretory protein Li 51|gc protein-derived macrophage activating factor|gc-globulin|group-specific component (vitamin D binding protein)|vitamin D-binding alpha-globulin|vitamin D-binding protein-macrophage activating factor 20211026 - 9606 2639 GCDH - ACAD5|GCD MIM:608801|HGNC:HGNC:4189|Ensembl:ENSG00000105607 19 19p13.13 glutaryl-CoA dehydrogenase protein-coding GCDH glutaryl-CoA dehydrogenase O glutaryl-CoA dehydrogenase, mitochondrial|glutaryl-Coenzyme A dehydrogenase|truncated GCDH|truncated glutaryl-CoA dehydrogenase 20210912 - 9606 2641 GCG - GLP-1|GLP1|GLP2|GRPP MIM:138030|HGNC:HGNC:4191|Ensembl:ENSG00000115263 2 2q24.2 glucagon protein-coding GCG glucagon O pro-glucagon|glicentin-related polypeptide|glucagon-like peptide 1|glucagon-like peptide 2|preproglucagon 20211031 - 9606 2642 GCGR - GGR|GL-R|MVAH MIM:138033|HGNC:HGNC:4192|Ensembl:ENSG00000215644 17 17q25.3 glucagon receptor protein-coding GCGR glucagon receptor O glucagon receptor 20210904 - 9606 2643 GCH1 - DYT14|DYT5|DYT5a|GCH|GTP-CH-1|GTPCH1|HPABH4B MIM:600225|HGNC:HGNC:4193|Ensembl:ENSG00000131979 14 14q22.2 GTP cyclohydrolase 1 protein-coding GCH1 GTP cyclohydrolase 1 O GTP cyclohydrolase 1|GTP cyclohydrolase I|GTP-CH-I|dystonia 14|guanosine 5'-triphosphate cyclohydrolase I 20211031 - 9606 2644 GCHFR - GFRP|HsT16933|P35 MIM:602437|HGNC:HGNC:4194|Ensembl:ENSG00000137880 15 15q15.1 GTP cyclohydrolase I feedback regulator protein-coding GCHFR GTP cyclohydrolase I feedback regulator O GTP cyclohydrolase 1 feedback regulatory protein|GTP cyclohydrolase I feedback regulatory protein 20210708 - 9606 2645 GCK - FGQTL3|GK|GLK|HHF3|HK4|HKIV|HXKP|LGLK|MODY2|PNDM1 MIM:138079|HGNC:HGNC:4195|Ensembl:ENSG00000106633 7 7p13 glucokinase protein-coding GCK glucokinase O hexokinase-4|ATP:D-hexose 6-phosphotransferase|HK IV|glucokinase (hexokinase 4)|hexokinase D, pancreatic isozyme|hexokinase type IV 20211026 - 9606 2646 GCKR - FGQTL5|GKRP MIM:600842|HGNC:HGNC:4196|Ensembl:ENSG00000084734 2 2p23.3 glucokinase regulator protein-coding GCKR glucokinase regulator O glucokinase regulatory protein|glucokinase (hexokinase 4) regulator|hexokinase 4 regulator 20211026 - 9606 2647 BLOC1S1 - BLOS1|BORCS1|GCN5L1|MICoA|RT14 MIM:601444|HGNC:HGNC:4200|Ensembl:ENSG00000135441 12 12q13.2 biogenesis of lysosomal organelles complex 1 subunit 1 protein-coding BLOC1S1 biogenesis of lysosomal organelles complex 1 subunit 1 O biogenesis of lysosome-related organelles complex 1 subunit 1|BLOC-1 subunit 1|GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1|GCN5 general control of amino-acid synthesis 5-like 1|GCN5-like protein 1|MTA1-interacting coactivator 20211017 - 9606 2648 KAT2A - GCN5|GCN5L2|PCAF-b|hGCN5 MIM:602301|HGNC:HGNC:4201|Ensembl:ENSG00000108773 17 17q21.2 lysine acetyltransferase 2A protein-coding KAT2A lysine acetyltransferase 2A O histone acetyltransferase KAT2A|GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 2|General control of amino acid synthesis, yeast, homolog-like 2|K(lysine) acetyltransferase 2A|STAF97|general control of amino acid synthesis protein 5-like 2|histone acetyltransferase GCN5|histone glutaryltransferase KAT2A|histone succinyltransferase KAT2A|hsGCN5 20211003 - 9606 2649 NR6A1 - CT150|GCNF|GCNF1|NR61|RTR|hGCNF|hRTR MIM:602778|HGNC:HGNC:7985|Ensembl:ENSG00000148200 9 9q33.3 nuclear receptor subfamily 6 group A member 1 protein-coding NR6A1 nuclear receptor subfamily 6 group A member 1 O nuclear receptor subfamily 6 group A member 1|germ cell nuclear factor variant 1|retinoic acid receptor-related testis-associated receptor|retinoid receptor-related testis-specific receptor 20211026 - 9606 2650 GCNT1 - C2GNT|C2GNT-L|C2GNT1|G6NT|NACGT2|NAGCT2 MIM:600391|HGNC:HGNC:4203|Ensembl:ENSG00000187210 9 9q21.13 glucosaminyl (N-acetyl) transferase 1 protein-coding GCNT1 glucosaminyl (N-acetyl) transferase 1 O beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase|beta-1,6-N-acetylglucosaminyltransferase|core 2 GnT|core 2 beta-1,6-N-acetylglucosaminyltransferase I|core 2 beta1,6 N-acetylglucosaminyltransferase-I|core 2 branching enzyme|core2-GlcNAc-transferase|glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) 20210708 - 9606 2651 GCNT2 - CCAT|CTRCT13|GCNT2C|GCNT5|IGNT|II|NACGT1|NAGCT1|ULG3|bA360O19.2|bA421M1.1 MIM:600429|HGNC:HGNC:4204|Ensembl:ENSG00000111846 6 6p24.3-p24.2 glucosaminyl (N-acetyl) transferase 2 (I blood group) protein-coding GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) O N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase|I beta-1,6-N-acetylglucosaminyltransferase|Ii blood group|beta-1,6-N-acetylglucosaminyltransferase 2|glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 20210926 - 9606 2652 OPN1MW - CBBM|CBD|COD5|GCP|GOP|OPN1MW1 MIM:300821|HGNC:HGNC:4206|Ensembl:ENSG00000268221 X Xq28 opsin 1, medium wave sensitive protein-coding OPN1MW opsin 1, medium wave sensitive O medium-wave-sensitive opsin 1|Medium-wave-sensitive opsin 2|Opsin 1 cone pigments medium-wave-sensitive 2|cone dystrophy 5 (X-linked)|green cone photoreceptor pigment|green cone pigment|green-sensitive opsin|opsin 1 (cone pigments), medium-wave-sensitive|photopigment apoprotein 20211016 - 9606 2653 GCSH - GCE|NKH MIM:238330|HGNC:HGNC:4208|Ensembl:ENSG00000140905 16 16q23.2 glycine cleavage system protein H protein-coding GCSH glycine cleavage system protein H O glycine cleavage system H protein, mitochondrial|glycine cleavage system protein H (aminomethyl carrier)|lipoic acid-containing protein|mitochondrial glycine cleavage system H-protein 20210611 - 9606 2656 GCY - STA|TS|TSY MIM:475000 Y Yq11 growth control, Y chromosome influenced unknown - - - - 20191002 - 9606 2657 GDF1 - CERS1|CHTD6|DORV|DTGA3|LAG1|LASS1|RAI|UOG1 MIM:602880|HGNC:HGNC:4214|Ensembl:ENSG00000130283 19 19p13.11 growth differentiation factor 1 protein-coding GDF1 growth differentiation factor 1 O embryonic growth/differentiation factor 1|Ceramide synthase 1|LAG1 longevity assurance homolog 1|Longevity assurance gene 1 protein homolog 1|Protein UOG-1 20210611 - 9606 2658 GDF2 - BMP-9|BMP9|HHT5 MIM:605120|HGNC:HGNC:4217|Ensembl:ENSG00000263761 10 10q11.22 growth differentiation factor 2 protein-coding GDF2 growth differentiation factor 2 O growth/differentiation factor 2|bone morphogenetic protein 9 20211017 - 9606 2660 MSTN - GDF8|MSLHP MIM:601788|HGNC:HGNC:4223|Ensembl:ENSG00000138379 2 2q32.2 myostatin protein-coding MSTN myostatin O growth/differentiation factor 8 20211031 - 9606 2661 GDF9 - POF14 MIM:601918|HGNC:HGNC:4224|Ensembl:ENSG00000164404 5 5q31.1 growth differentiation factor 9 protein-coding GDF9 growth differentiation factor 9 O growth/differentiation factor 9 20210906 - 9606 2662 GDF10 - BIP|BMP-3b|BMP3B MIM:601361|HGNC:HGNC:4215|Ensembl:ENSG00000266524 10 10q11.22 growth differentiation factor 10 protein-coding GDF10 growth differentiation factor 10 O growth/differentiation factor 10|bone morphogenetic protein 3B|bone-inducing protein 20210912 - 9606 2664 GDI1 - 1A|GDIL|MRX41|MRX48|OPHN2|RABGD1A|RABGDIA|XAP-4|XLID41 MIM:300104|HGNC:HGNC:4226|Ensembl:ENSG00000203879 X Xq28 GDP dissociation inhibitor 1 protein-coding GDI1 GDP dissociation inhibitor 1 O rab GDP dissociation inhibitor alpha|GDI-1|guanosine diphosphate dissociation inhibitor 1|mental retardation, X-linked 48|oligophrenin-2|protein XAP-4|rab GDI alpha|rab GDP-dissociation inhibitor, alpha|testis secretory sperm-binding protein Li 208a 20210822 - 9606 2665 GDI2 - HEL-S-46e|RABGDIB MIM:600767|HGNC:HGNC:4227|Ensembl:ENSG00000057608 10 10p15.1 GDP dissociation inhibitor 2 protein-coding GDI2 GDP dissociation inhibitor 2 O rab GDP dissociation inhibitor beta|GDI-2|epididymis secretory sperm binding protein Li 46e|guanosine diphosphate dissociation inhibitor 2|rab GDI beta|rab GDP-dissociation inhibitor, beta 20210912 - 9606 2667 GDI2P1 - GDI2P HGNC:HGNC:4228 7 7p12.3 GDP dissociation inhibitor 2 pseudogene 1 pseudo GDI2P1 GDP dissociation inhibitor 2 pseudogene 1 O rab GDP-dissociation inhibitor, beta pseudogene 20210611 - 9606 2668 GDNF - ATF|ATF1|ATF2|HFB1-GDNF|HSCR3 MIM:600837|HGNC:HGNC:4232|Ensembl:ENSG00000168621 5 5p13.2 glial cell derived neurotrophic factor protein-coding GDNF glial cell derived neurotrophic factor O glial cell line-derived neurotrophic factor|astrocyte-derived trophic factor 20211031 - 9606 2669 GEM - KIR MIM:600164|HGNC:HGNC:4234|Ensembl:ENSG00000164949 8 8q22.1 GTP binding protein overexpressed in skeletal muscle protein-coding GEM GTP binding protein overexpressed in skeletal muscle O GTP-binding protein GEM|GTP-binding mitogen-induced T-cell protein|RAS-like protein KIR|kinase-inducible Ras-like protein 20210611 - 9606 2670 GFAP - ALXDRD MIM:137780|HGNC:HGNC:4235|Ensembl:ENSG00000131095 17 17q21.31 glial fibrillary acidic protein protein-coding GFAP glial fibrillary acidic protein O glial fibrillary acidic protein 20211031 - 9606 2671 GFER - ALR|ERV1|HERV1|HPO|HPO1|HPO2|HSS|MMCHD|MPMCD MIM:600924|HGNC:HGNC:4236|Ensembl:ENSG00000127554 16 16p13.3 growth factor, augmenter of liver regeneration protein-coding GFER growth factor, augmenter of liver regeneration O FAD-linked sulfhydryl oxidase ALR|ERV1 homolog|erv1-like growth factor|hepatic regenerative stimulation substance|hepatopoietin protein 20210919 - 9606 2672 GFI1 - GFI-1|GFI1A|SCN2|ZNF163 MIM:600871|HGNC:HGNC:4237|Ensembl:ENSG00000162676 1 1p22.1 growth factor independent 1 transcriptional repressor protein-coding GFI1 growth factor independent 1 transcriptional repressor O zinc finger protein Gfi-1|growth factor independence-1|growth factor independent 1 transcription repressor|growth factor independent protein 1|zinc finger protein 163 20211031 - 9606 2673 GFPT1 - CMS12|CMSTA1|GFA|GFAT|GFAT 1|GFAT1|GFAT1m|GFPT|GFPT1L|MSLG MIM:138292|HGNC:HGNC:4241|Ensembl:ENSG00000198380 2 2p13.3 glutamine--fructose-6-phosphate transaminase 1 protein-coding GFPT1 glutamine--fructose-6-phosphate transaminase 1 O glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1|D-fructose-6-phosphate amidotransferase 1|glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1|glutamine:fructose-6-phosphate amidotransferase 1|hexosephosphate aminotransferase 1 20210905 - 9606 2674 GFRA1 - GDNFR|GDNFRA|GFR-ALPHA-1|GFRalpha-1|RET1L|RETL1|TRNR1 MIM:601496|HGNC:HGNC:4243|Ensembl:ENSG00000151892 10 10q25.3 GDNF family receptor alpha 1 protein-coding GFRA1 GDNF family receptor alpha 1 O GDNF family receptor alpha-1|GDNF receptor alpha 1d|GDNF receptor alpha 1e|GDNFR-alpha-1|GPI-linked anchor protein|Glial cell line-derived neurotrophic factor receptor alpha|PI-linked cell-surface accessory protein|RET ligand 1|TGF-beta-related neurotrophic factor receptor 1 20211031 - 9606 2675 GFRA2 - GDNFRB|NRTNR-ALPHA|NTNRA|RETL2|TRNR2 MIM:601956|HGNC:HGNC:4244|Ensembl:ENSG00000168546 8 8p21.3 GDNF family receptor alpha 2 protein-coding GFRA2 GDNF family receptor alpha 2 O GDNF family receptor alpha-2|GDNF receptor beta|GDNFR-alpha-2|GDNFR-beta|GFR-alpha 2|NTNR-alpha|PI-linked cell-surface accessory protein|RET ligand 2|TGF-beta-related neurotrophic factor receptor 2|TRN receptor, GPI-anchored|glial cell line derived neurotrophic factor receptor, beta|neurturin receptor alpha 20210708 - 9606 2676 GFRA3 - GDNFR3 MIM:605710|HGNC:HGNC:4245|Ensembl:ENSG00000146013 5 5q31.2 GDNF family receptor alpha 3 protein-coding GFRA3 GDNF family receptor alpha 3 O GDNF family receptor alpha-3|GDNF receptor alpha-3|GDNFR-alpha-3|GFR-alpha-3|GPI-linked receptor|glial cell line-derived neurotrophic factor receptor alpha-3 20210708 - 9606 2677 GGCX - VKCFD1 MIM:137167|HGNC:HGNC:4247|Ensembl:ENSG00000115486 2 2p11.2 gamma-glutamyl carboxylase protein-coding GGCX gamma-glutamyl carboxylase O vitamin K-dependent gamma-carboxylase|peptidyl-glutamate 4-carboxylase 20210708 - 9606 2678 GGT1 - CD224|D22S672|D22S732|GGT|GGT 1|GGTD|GTG MIM:612346|HGNC:HGNC:4250|Ensembl:ENSG00000100031|Ensembl:ENSG00000286070 22 22q11.23 gamma-glutamyltransferase 1 protein-coding GGT1 gamma-glutamyltransferase 1 O glutathione hydrolase 1 proenzyme|gamma-glutamyltranspeptidase 1|leukotriene-C4 hydrolase|testicular tissue protein Li 73 20211017 - 9606 2679 GGT3P - GGT3 HGNC:HGNC:4252|Ensembl:ENSG00000197421 22 22q11.21 gamma-glutamyltransferase 3 pseudogene pseudo GGT3P gamma-glutamyltransferase 3 pseudogene O - 20210611 - 9606 2681 GGTA1 - GGTA|GGTA1P|GLYT2|a1/3GTP MIM:104175|HGNC:HGNC:4253|Ensembl:ENSG00000204136 9 9q33.2 glycoprotein alpha-galactosyltransferase 1 (inactive) protein-coding GGTA1 glycoprotein alpha-galactosyltransferase 1 (inactive) O inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase|glycoprotein alpha-galactosyltransferase 1, pseudogene|glycoprotein, alpha-galactosyltransferase 1|truncated alpha-1,3-galactosyltransferase 20210611 - 9606 2683 B4GALT1 - B4GAL-T1|CDG2D|GGTB2|GT1|GTB|beta4Gal-T1 MIM:137060|HGNC:HGNC:924|Ensembl:ENSG00000086062 9 9p21.1 beta-1,4-galactosyltransferase 1 protein-coding B4GALT1 beta-1,4-galactosyltransferase 1 O beta-1,4-galactosyltransferase 1|N-acetyllactosamine synthase|UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1|UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1|beta-1,4-GalTase 1|beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase|glycoprotein-4-beta-galactosyltransferase 2|lactose synthase A protein|nal synthase|neolactotriaosylceramide beta-1,4-galactosyltransferase 20210906 - 9606 2686 GGT7 - D20S101|GGT4|GGTL3|GGTL5 MIM:612342|HGNC:HGNC:4259|Ensembl:ENSG00000131067 20 20q11.22 gamma-glutamyltransferase 7 protein-coding GGT7 gamma-glutamyltransferase 7 O glutathione hydrolase 7|GGT 7|gamma-glutamyltransferase 4|gamma-glutamyltransferase-like 3|gamma-glutamyltransferase-like 5|gamma-glutamyltranspeptidase 7|gamma-glutamyltranspeptidase-like 3 20210716 - 9606 2687 GGT5 - GGL|GGT 5|GGT-REL|GGTLA1 MIM:137168|HGNC:HGNC:4260|Ensembl:ENSG00000099998 22 22q11.23 gamma-glutamyltransferase 5 protein-coding GGT5 gamma-glutamyltransferase 5 O glutathione hydrolase 5 proenzyme|gamma-glutamyl cleaving enzyme|gamma-glutamyl transpeptidase-related enzyme|gamma-glutamyl transpeptidase-related protein|gamma-glutamyltransferase-like activity 1|gamma-glutamyltranspeptidase 5|leukotriene-C4 hydrolase 20210708 - 9606 2688 GH1 - GH|GH-N|GHB5|GHN|IGHD1A|IGHD1B|IGHD2|hGH-N MIM:139250|HGNC:HGNC:4261|Ensembl:ENSG00000259384 17 17q23.3 growth hormone 1 protein-coding GH1 growth hormone 1 O somatotropin|growth hormone B5|pituitary growth hormone 20211017 - 9606 2689 GH2 - GH-V|GHB2|GHL|GHV|hGH-V MIM:139240|HGNC:HGNC:4262|Ensembl:ENSG00000136487 17 17q23.3 growth hormone 2 protein-coding GH2 growth hormone 2 O growth hormone variant|growth hormone B2|placenta-specific growth hormone|placental-specific growth hormone 20210708 - 9606 2690 GHR - GHBP|GHIP MIM:600946|HGNC:HGNC:4263|Ensembl:ENSG00000112964 5 5p13.1-p12 growth hormone receptor protein-coding GHR growth hormone receptor O growth hormone receptor|GH receptor|growth hormone binding protein|mutant growth hormone receptor|serum binding protein|somatotropin receptor|truncated growth hormone receptor 20211017 - 9606 2691 GHRH - GHRF|GRF|INN MIM:139190|HGNC:HGNC:4265|Ensembl:ENSG00000118702 20 20q11.23 growth hormone releasing hormone protein-coding GHRH growth hormone releasing hormone O somatoliberin|growth hormone releasing factor|sermorelin|somatocrinin|somatorelin 20210708 - 9606 2692 GHRHR - GHRFR|GRFR|IGHD1B|IGHD4 MIM:139191|HGNC:HGNC:4266|Ensembl:ENSG00000106128 7 7p14.3 growth hormone releasing hormone receptor protein-coding GHRHR growth hormone releasing hormone receptor O growth hormone-releasing hormone receptor|GHRH receptor|GRF receptor 20210711 - 9606 2693 GHSR - GHDP MIM:601898|HGNC:HGNC:4267|Ensembl:ENSG00000121853 3 3q26.31 growth hormone secretagogue receptor protein-coding GHSR growth hormone secretagogue receptor O growth hormone secretagogue receptor type 1|GH-releasing peptide receptor|GHRP|GHS-R|ghrelin receptor 20210906 - 9606 2694 CBLIF - GIF|IF|IFMH|INF|TCN3 MIM:609342|HGNC:HGNC:4268|Ensembl:ENSG00000134812 11 11q12.1 cobalamin binding intrinsic factor protein-coding CBLIF cobalamin binding intrinsic factor O cobalamin binding intrinsic factor|gastric intrinsic factor (vitamin B synthesis)|intrinsic factor 20210708 - 9606 2695 GIP - - MIM:137240|HGNC:HGNC:4270|Ensembl:ENSG00000159224 17 17q21.32 gastric inhibitory polypeptide protein-coding GIP gastric inhibitory polypeptide O gastric inhibitory polypeptide|glucose-dependent insulinotropic polypeptide|incretin hormone 20211026 - 9606 2696 GIPR - PGQTL2 MIM:137241|HGNC:HGNC:4271|Ensembl:ENSG00000010310 19 19q13.32 gastric inhibitory polypeptide receptor protein-coding GIPR gastric inhibitory polypeptide receptor O gastric inhibitory polypeptide receptor|GIP-R|glucose-dependent insulinotropic polypeptide receptor 20210709 - 9606 2697 GJA1 - AVSD3|CMDR|CX43|EKVP|EKVP3|GJAL|HLHS1|HSS|ODDD|PPKCA MIM:121014|HGNC:HGNC:4274|Ensembl:ENSG00000152661 6 6q22.31 gap junction protein alpha 1 protein-coding GJA1 gap junction protein alpha 1 O gap junction alpha-1 protein|connexin-43|gap junction 43 kDa heart protein|gap junction protein, alpha 1, 43kDa 20211026 - 9606 2698 GJA1P1 - - HGNC:HGNC:4275 5 5q21.3 gap junction protein alpha 1 pseudogene 1 pseudo GJA1P1 gap junction protein alpha 1 pseudogene 1 O gap junction protein, alpha 1, 43kDa pseudogene 1 20210611 - 9606 2700 GJA3 - CTRCT14|CX46|CZP3 MIM:121015|HGNC:HGNC:4277|Ensembl:ENSG00000121743 13 13q12.11 gap junction protein alpha 3 protein-coding GJA3 gap junction protein alpha 3 O gap junction alpha-3 protein|connexin-46|gap junction alpha 3|gap junction protein, alpha 3, 46kDa 20210905 - 9606 2701 GJA4 - CX37 MIM:121012|HGNC:HGNC:4278|Ensembl:ENSG00000187513 1 1p34.3 gap junction protein alpha 4 protein-coding GJA4 gap junction protein alpha 4 O gap junction alpha-4 protein|connexin-37|gap junction protein, alpha 4, 37kDa 20210611 - 9606 2702 GJA5 - ATFB11|CX40 MIM:121013|HGNC:HGNC:4279|Ensembl:ENSG00000265107 1 1q21.2 gap junction protein alpha 5 protein-coding GJA5 gap junction protein alpha 5 O gap junction alpha-5 protein|connexin 40|gap junction protein alpha 5 40kDa 20210708 - 9606 2703 GJA8 - CAE|CAE1|CTRCT1|CX50|CZP1|MP70 MIM:600897|HGNC:HGNC:4281|Ensembl:ENSG00000121634 1 1q21.2 gap junction protein alpha 8 protein-coding GJA8 gap junction protein alpha 8 O gap junction alpha-8 protein|cell surface glycoprotein|connexin 50|gap junction alpha 8|gap junction membrane channel protein alpha-8|gap junction protein alpha 8 50kDa|lens fiber protein MP70|lens intrinsic membrane protein MP70 20210822 - 9606 2705 GJB1 - CMTX|CMTX1|CX32 MIM:304040|HGNC:HGNC:4283|Ensembl:ENSG00000169562 X Xq13.1 gap junction protein beta 1 protein-coding GJB1 gap junction protein beta 1 O gap junction beta-1 protein|GAP junction 28 kDa liver protein|connexin-32|gap junction protein, beta 1, 32kDa 20210919 - 9606 2706 GJB2 - BAPS|CX26|DFNA3|DFNA3A|DFNB1|DFNB1A|HID|KID|NSRD1|PPK MIM:121011|HGNC:HGNC:4284|Ensembl:ENSG00000165474 13 13q12.11 gap junction protein beta 2 protein-coding GJB2 gap junction protein beta 2 O gap junction beta-2 protein|connexin 26|gap junction beta 2 proteinc|gap junction protein, beta 2, 26kDa|mutant gap junction beta 2 protein|mutant gap junction protein beta 2 20211031 - 9606 2707 GJB3 - CX31|DFNA2|DFNA2B|EKV|EKVP1 MIM:603324|HGNC:HGNC:4285|Ensembl:ENSG00000188910 1 1p34.3 gap junction protein beta 3 protein-coding GJB3 gap junction protein beta 3 O gap junction beta-3 protein|connexin 31|gap junction protein, beta 3, 31kDa 20210611 - 9606 2709 GJB5 - CX31.1 MIM:604493|HGNC:HGNC:4287|Ensembl:ENSG00000189280 1 1p34.3 gap junction protein beta 5 protein-coding GJB5 gap junction protein beta 5 O gap junction beta-5 protein|gap junction protein, beta 5 (connexin 31.1)|gap junction protein, beta 5, 31.1kDa|gap junctional protein cx31.1 20210611 - 9606 2710 GK - GK1|GKD MIM:300474|HGNC:HGNC:4289|Ensembl:ENSG00000198814 X Xp21.2 glycerol kinase protein-coding GK glycerol kinase O glycerol kinase|ATP:glycerol 3-phosphotransferase|glycerokinase 20210904 - 9606 2712 GK2 - GKP2|GKTA MIM:600148|HGNC:HGNC:4291|Ensembl:ENSG00000196475 4 4q21.21 glycerol kinase 2 protein-coding GK2 glycerol kinase 2 O glycerol kinase 2|ATP:glycerol 3-phosphotransferase 2|glycerokinase 2|glycerol kinase pseudogene 2|glycerol kinase testis specific 2|testis tissue sperm-binding protein Li 77m 20210611 - 9606 2713 GK3P - GKP3|GKTB MIM:600149|HGNC:HGNC:4292|Ensembl:ENSG00000229894 4 4q32.3 glycerol kinase 3 pseudogene protein-coding GK3P glycerol kinase 3 pseudogene O glycerol kinase 3 pseudogene|glycerol kinase pseudogene 3 20211106 - 9606 2716 GK4P - GKP6 HGNC:HGNC:4295 X Xq22.1 glycerol kinase 4 pseudogene pseudo GK4P glycerol kinase 4 pseudogene O glycerol kinase pseudogene 6 20210904 - 9606 2717 GLA - GALA MIM:300644|HGNC:HGNC:4296|Ensembl:ENSG00000102393 X Xq22.1 galactosidase alpha protein-coding GLA galactosidase alpha O alpha-galactosidase A|agalsidase alfa|alpha-D-galactosidase A|alpha-D-galactoside galactohydrolase 1|alpha-gal A|galactosylgalactosylglucosylceramidase GLA|melibiase 20211017 - 9606 2719 GPC3 - DGSX|GTR2-2|MXR7|OCI-5|SDYS|SGB|SGBS|SGBS1 MIM:300037|HGNC:HGNC:4451|Ensembl:ENSG00000147257 X Xq26.2 glypican 3 protein-coding GPC3 glypican 3 O glypican-3|glypican proteoglycan 3|heparan sulphate proteoglycan|intestinal protein OCI-5|secreted glypican-3 20211106 - 9606 2720 GLB1 - EBP|ELNR1|MPS4B MIM:611458|HGNC:HGNC:4298|Ensembl:ENSG00000170266 3 3p22.3 galactosidase beta 1 protein-coding GLB1 galactosidase beta 1 O beta-galactosidase|acid beta-galactosidase|elastin binding protein|elastin receptor 1, 67kDa|lactase 20211031 - 9606 2722 GLC1B - - MIM:606689 2 2cen-q13 glaucoma 1, open angle, B (adult-onset) unknown - - - - 20191002 - 9606 2723 GLC1C - - MIM:601682 3 3q21-q24 glaucoma 1, open angle, C unknown - - - - 20191002 - 9606 2724 GLC1D - - MIM:602429 8 8q23 glaucoma 1, open angle, D (adult-onset) unknown - - - - 20191002 - 9606 2728 GLC3B - - MIM:600975 1 1p36 glaucoma 3, primary infantile, B unknown - - - - 20191002 - 9606 2729 GCLC - GCL|GCS|GLCL|GLCLC MIM:606857|HGNC:HGNC:4311|Ensembl:ENSG00000001084 6 6p12.1 glutamate-cysteine ligase catalytic subunit protein-coding GCLC glutamate-cysteine ligase catalytic subunit O glutamate--cysteine ligase catalytic subunit|GCS heavy chain|gamma-ECS|gamma-glutamylcysteine synthetase 20210808 - 9606 2730 GCLM - GLCLR MIM:601176|HGNC:HGNC:4312|Ensembl:ENSG00000023909 1 1p22.1 glutamate-cysteine ligase modifier subunit protein-coding GCLM glutamate-cysteine ligase modifier subunit O glutamate--cysteine ligase regulatory subunit|GCS light chain|GSC light chain|gamma-ECS regulatory subunit|gamma-glutamylcysteine synthetase regulatory subunit|glutamate-cysteine ligase (gamma-glutamylcysteine synthetase), regulatory (30.8kD)|glutamate-cysteine ligase modifier subunit delta2 alternative splicing|glutamate-cysteine ligase regulatory protein 20210926 - 9606 2731 GLDC - GCE|GCSP|HYGN1 MIM:238300|HGNC:HGNC:4313|Ensembl:ENSG00000178445 9 9p24.1 glycine decarboxylase protein-coding GLDC glycine decarboxylase O glycine dehydrogenase (decarboxylating), mitochondrial|glycine cleavage system protein P|glycine decarboxylase P-protein|glycine dehydrogenase (aminomethyl-transferring)|glycine dehydrogenase [decarboxylating], mitochondrial|nonketotic hyperglycinemia 20210708 - 9606 2732 GLDCP1 - GLDCP HGNC:HGNC:4314 4 4q12 glycine decarboxylase pseudogene 1 pseudo GLDCP1 glycine decarboxylase pseudogene 1 O glycine dehydrogenase (decarboxylase) pseudogene 1|glycine dehydrogenase (decarboxylating) pseudogene 20210611 - 9606 2733 GLE1 - CAAHC|CAAHD|GLE1L|LCCS|LCCS1|hGLE1 MIM:603371|HGNC:HGNC:4315|Ensembl:ENSG00000119392 9 9q34.11 GLE1 RNA export mediator protein-coding GLE1 GLE1 RNA export mediator O nucleoporin GLE1|GLE1 RNA export mediator homolog|GLE1-like protein|GLE1-like, RNA export mediator 20210822 - 9606 2734 GLG1 - CFR-1|ESL-1|MG-160|MG160 MIM:600753|HGNC:HGNC:4316|Ensembl:ENSG00000090863 16 16q23.1 golgi glycoprotein 1 protein-coding GLG1 golgi glycoprotein 1 O Golgi apparatus protein 1|E-selectin ligand 1|cysteine-rich fibroblast growth factor receptor|golgi sialoglycoprotein MG-160 20210905 - 9606 2735 GLI1 - GLI|PAPA8|PPD1 MIM:165220|HGNC:HGNC:4317|Ensembl:ENSG00000111087 12 12q13.3 GLI family zinc finger 1 protein-coding GLI1 GLI family zinc finger 1 O zinc finger protein GLI1|GLI-Kruppel family member GLI1|glioma-associated oncogene 1|glioma-associated oncogene homolog 1 (zinc finger protein)|oncogene GLI 20211026 - 9606 2736 GLI2 - CJS|HPE9|PHS2|THP1|THP2 MIM:165230|HGNC:HGNC:4318|Ensembl:ENSG00000074047 2 2q14.2 GLI family zinc finger 2 protein-coding GLI2 GLI family zinc finger 2 O zinc finger protein GLI2|GLI family zinc finger protein 2|GLI-Kruppel family member GLI2|glioma-associated oncogene family zinc finger 2|oncogene GLI2|tax helper protein 1|tax helper protein 2|tax-responsive element-2 holding protein|tax-responsive element-25-bp sequence binding protein 20211026 - 9606 2737 GLI3 - ACLS|GCPS|GLI3-190|GLI3FL|PAP-A|PAPA|PAPA1|PAPB|PHS|PPDIV MIM:165240|HGNC:HGNC:4319|Ensembl:ENSG00000106571 7 7p14.1 GLI family zinc finger 3 protein-coding GLI3 GLI family zinc finger 3 O transcriptional activator GLI3|GLI-Kruppel family member GLI3|glioma-associated oncogene family zinc finger 3|oncogene GLI3|zinc finger protein GLI3 20210919 - 9606 2738 GLI4 - HKR4|ZNF928 MIM:165280|HGNC:HGNC:4320|Ensembl:ENSG00000250571 8 8q24.3 GLI family zinc finger 4 protein-coding GLI4 GLI family zinc finger 4 O zinc finger protein GLI4|GLI-Kruppel family member GLI4 (oncogene HKR4)|glioma-associated oncogene family zinc finger 4|krueppel-related zinc finger protein 4 20210611 - 9606 2739 GLO1 - GLOD1|GLYI|HEL-S-74 MIM:138750|HGNC:HGNC:4323|Ensembl:ENSG00000124767 6 6p21.2 glyoxalase I protein-coding GLO1 glyoxalase I O lactoylglutathione lyase|S-D-lactoylglutathione methylglyoxal lyase|aldoketomutase|epididymis secretory protein Li 74|glx I|glyoxalase domain containing 1|ketone-aldehyde mutase|lactoyl glutathione lyase|methylglyoxalase 20211003 - 9606 2740 GLP1R - GLP-1|GLP-1-R|GLP-1R MIM:138032|HGNC:HGNC:4324|Ensembl:ENSG00000112164 6 6p21.2 glucagon like peptide 1 receptor protein-coding GLP1R glucagon like peptide 1 receptor O glucagon-like peptide 1 receptor|GLP-1 receptor|GLP1 receptor|seven transmembrane helix receptor 20211026 - 9606 2741 GLRA1 - HKPX1|STHE MIM:138491|HGNC:HGNC:4326|Ensembl:ENSG00000145888 5 5q33.1 glycine receptor alpha 1 protein-coding GLRA1 glycine receptor alpha 1 O glycine receptor subunit alpha-1|glycine receptor 48 kDa subunit|glycine receptor strychnine-binding subunit 20210708 - 9606 2742 GLRA2 - GLR MIM:305990|HGNC:HGNC:4327|Ensembl:ENSG00000101958 X Xp22.2 glycine receptor alpha 2 protein-coding GLRA2 glycine receptor alpha 2 O glycine receptor subunit alpha-2|glycine receptor alpha 2 subunit|glycine receptor, alpha-2 polypeptide 20210708 - 9606 2743 GLRB - HKPX2 MIM:138492|HGNC:HGNC:4329|Ensembl:ENSG00000109738 4 4q32.1 glycine receptor beta protein-coding GLRB glycine receptor beta O glycine receptor subunit beta|glycine receptor 58 kDa subunit|glycine receptor, beta subunit 20210708 - 9606 2744 GLS - AAD20|CASGID|DEE71|EIEE71|GAC|GAM|GDPAG|GLS1|KGA MIM:138280|HGNC:HGNC:4331|Ensembl:ENSG00000115419 2 2q32.2 glutaminase protein-coding GLS glutaminase O glutaminase kidney isoform, mitochondrial|K-glutaminase|L-glutamine amidohydrolase|glutaminase C|glutaminase, phosphate-activated 20211031 - 9606 2745 GLRX - GRX|GRX1 MIM:600443|HGNC:HGNC:4330|Ensembl:ENSG00000173221 5 5q15 glutaredoxin protein-coding GLRX glutaredoxin O glutaredoxin-1|TTase-1|thioltransferase|thioltransferase-1 20210906 - 9606 2746 GLUD1 - GDH|GDH1|GLUD MIM:138130|HGNC:HGNC:4335|Ensembl:ENSG00000148672 10 10q23.2 glutamate dehydrogenase 1 protein-coding GLUD1 glutamate dehydrogenase 1 O glutamate dehydrogenase 1, mitochondrial|epididymis secretory sperm binding protein|epididymis tissue sperm binding protein Li 18mP|glutamate dehydrogenase (NAD(P)+) 20210926 - 9606 2747 GLUD2 - GDH2|GLUDP1 MIM:300144|HGNC:HGNC:4336|Ensembl:ENSG00000182890 X Xq24 glutamate dehydrogenase 2 protein-coding GLUD2 glutamate dehydrogenase 2 O glutamate dehydrogenase 2, mitochondrial|GDH 2|glutamate dehydrogenase pseudogene 1|testicular secretory protein Li 14 20211003 - 9606 2749 GLUD1P3 - C10orf102|GLUDP3 HGNC:HGNC:4338|Ensembl:ENSG00000250959 10 10q22.2 glutamate dehydrogenase 1 pseudogene 3 pseudo GLUD1P3 glutamate dehydrogenase 1 pseudogene 3 O glutamate dehydrogenase pseudogene 3 20210611 - 9606 2750 GLUD1P4 - GLUDP4 HGNC:HGNC:4339 18 18q21.32 glutamate dehydrogenase 1 pseudogene 4 pseudo GLUD1P4 glutamate dehydrogenase 1 pseudogene 4 O glutamate dehydrogenase pseudogene 4 20210611 - 9606 2751 GLUD1P5 - GLUDP5 HGNC:HGNC:4340 10 10p11.22 glutamate dehydrogenase 1 pseudogene 5 pseudo GLUD1P5 glutamate dehydrogenase 1 pseudogene 5 O glutamate dehydrogenase pseudogene 5 20210611 - 9606 2752 GLUL - GLNS|GS|PIG43|PIG59 MIM:138290|HGNC:HGNC:4341|Ensembl:ENSG00000135821 1 1q25.3 glutamate-ammonia ligase protein-coding GLUL glutamate-ammonia ligase O glutamine synthetase|cell proliferation-inducing protein 59|glutamate decarboxylase|glutamine synthase|palmitoyltransferase GLUL|proliferation-inducing protein 43 20211026 - 9606 2753 GLULP1 - GLULL1 HGNC:HGNC:4342|Ensembl:ENSG00000270978 5 5q33.1 glutamate-ammonia ligase pseudogene 1 pseudo GLULP1 glutamate-ammonia ligase pseudogene 1 O glutamate-ammonia ligase (glutamine synthase)-like 1|glutamate-ammonia ligase (glutamine synthetase) pseudogene 1|glutamate-ammonia ligase (glutamine synthetase)-like 1 20210611 - 9606 2754 GLULP2 - GLULL2 HGNC:HGNC:4343 11 11p15.4 glutamate-ammonia ligase pseudogene 2 pseudo GLULP2 glutamate-ammonia ligase pseudogene 2 O glutamate-ammonia ligase (glutamine synthase)-like 2|glutamate-ammonia ligase (glutamine synthetase) pseudogene 2|glutamate-ammonia ligase (glutamine synthetase)-like 2 20210611 - 9606 2759 GLYS1 - - MIM:233100 6 6p21.3 glycosuria 1, renal unknown - - - glucosuria, renal 20191002 - 9606 2760 GM2A - GM2-AP|SAP-3 MIM:613109|HGNC:HGNC:4367|Ensembl:ENSG00000196743 5 5q33.1 GM2 ganglioside activator protein-coding GM2A GM2 ganglioside activator O ganglioside GM2 activator|cerebroside sulfate activator protein|shingolipid activator protein 3|sphingolipid activator protein 3 20210708 - 9606 2761 GM2AP1 - GM2AP HGNC:HGNC:4368 3 3q24 GM2 ganglioside activator pseudogene 1 pseudo GM2AP1 GM2 ganglioside activator pseudogene 1 O GM2 ganglioside activator protein pseudogene 20210611 - 9606 2762 GMDS - GMD|SDR3E1 MIM:602884|HGNC:HGNC:4369|Ensembl:ENSG00000112699 6 6p25.3 GDP-mannose 4,6-dehydratase protein-coding GMDS GDP-mannose 4,6-dehydratase O GDP-mannose 4,6 dehydratase|GDP-D-mannose dehydratase|short chain dehydrogenase/reductase family 3E, member 1 20210708 - 9606 2764 GMFB - GMF MIM:601713|HGNC:HGNC:4373|Ensembl:ENSG00000197045 14 14q22.2 glia maturation factor beta protein-coding GMFB glia maturation factor beta O glia maturation factor beta|GMF-beta 20210905 - 9606 2765 GML - LY6DL MIM:602370|HGNC:HGNC:4375|Ensembl:ENSG00000104499 8 8q24.3 glycosylphosphatidylinositol anchored molecule like protein-coding GML glycosylphosphatidylinositol anchored molecule like O glycosyl-phosphatidylinositol-anchored molecule-like protein|GPI anchored molecule like protein|Glycosylphosphatidylinositol-anchored molecule-like protein|glycosylphosphatidylinositol anchored molecule like protein 20210611 - 9606 2766 GMPR - GMPR 1|GMPR1 MIM:139265|HGNC:HGNC:4376|Ensembl:ENSG00000137198 6 6p22.3 guanosine monophosphate reductase protein-coding GMPR guanosine monophosphate reductase O GMP reductase 1|guanine monophosphate reductase|guanosine 5'-monophosphate oxidoreductase 1|guanosine monophosphate reductase 1 20210708 - 9606 2767 GNA11 - FBH|FBH2|FHH2|GNA-11|HG1K|HHC2|HYPOC2 MIM:139313|HGNC:HGNC:4379|Ensembl:ENSG00000088256 19 19p13.3 G protein subunit alpha 11 protein-coding GNA11 G protein subunit alpha 11 O guanine nucleotide-binding protein subunit alpha-11|g alpha-11|guanine nucleotide binding protein (G protein), alpha 11 (Gq class)|guanine nucleotide-binding protein G(y) subunit alpha|heterotrimeric guanine nucleotide-binding protein 1K 20211017 - 9606 2768 GNA12 - HG1M1|NNX3|RMP|gep MIM:604394|HGNC:HGNC:4380|Ensembl:ENSG00000146535 7 7p22.3-p22.2 G protein subunit alpha 12 protein-coding GNA12 G protein subunit alpha 12 O guanine nucleotide-binding protein subunit alpha-12|WUGSC:H_GS165O14.2|g alpha-12|guanine nucleotide binding protein (G protein) alpha 12|heterotrimeric guanine nucleotide-binding protein 1M1 20211014 - 9606 2769 GNA15 - GNA16|HG1L MIM:139314|HGNC:HGNC:4383|Ensembl:ENSG00000060558 19 19p13.3 G protein subunit alpha 15 protein-coding GNA15 G protein subunit alpha 15 O guanine nucleotide-binding protein subunit alpha-15|G-protein subunit alpha-16|epididymis secretory sperm binding protein|epididymis tissue protein Li 17E|g alpha-15|g alpha-16|guanine nucleotide binding protein (G protein), alpha 15 (Gq class)|guanine nucleotide-binding protein subunit alpha-16|heterotrimeric guanine nucleotide-binding protein 1L 20211014 - 9606 2770 GNAI1 - Gi|HG1B MIM:139310|HGNC:HGNC:4384|Ensembl:ENSG00000127955 7 7q21.11 G protein subunit alpha i1 protein-coding GNAI1 G protein subunit alpha i1 O guanine nucleotide-binding protein G(i) subunit alpha-1|Gi1 protein alpha subunit|adenylate cyclase-inhibiting G alpha protein|guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1|heterotrimeric guanine nucleotide-binding protein 1B 20211014 - 9606 2771 GNAI2 - GIP|GNAI2B|HG1C|H_LUCA15.1|H_LUCA16.1 MIM:139360|HGNC:HGNC:4385|Ensembl:ENSG00000114353 3 3p21.31 G protein subunit alpha i2 protein-coding GNAI2 G protein subunit alpha i2 O guanine nucleotide-binding protein G(i) subunit alpha-2|GTP-binding regulatory protein Gi alpha-2 chain|adenylate cyclase-inhibiting G alpha protein|guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2|guanine nucleotide-binding protein G(i), alpha-2 subunit|heterotrimeric guanine nucleotide-binding protein 1C 20211014 - 9606 2772 GNAI2P1 - GNAI2A|GNAI2L MIM:139180|HGNC:HGNC:4386 12 12p13.1 G protein subunit alpha i2 pseudogene 1 pseudo GNAI2P1 G protein subunit alpha i2 pseudogene 1 O guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 1 20210611 - 9606 2773 GNAI3 - 87U6|ARCND1|HG1A MIM:139370|HGNC:HGNC:4387|Ensembl:ENSG00000065135 1 1p13.3 G protein subunit alpha i3 protein-coding GNAI3 G protein subunit alpha i3 O guanine nucleotide-binding protein G(i) subunit alpha-3|g(i) alpha-3|guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3|guanine nucleotide-binding protein G(i) subunit alpha|guanine nucleotide-binding protein G(k) subunit alpha|heterotrimeric guanine nucleotide-binding protein 1A 20211014 - 9606 2774 GNAL - DYT25|HG1O MIM:139312|HGNC:HGNC:4388|Ensembl:ENSG00000141404 18 18p11.21 G protein subunit alpha L protein-coding GNAL G protein subunit alpha L O guanine nucleotide-binding protein G(olf) subunit alpha|adenylate cyclase-stimulating G alpha protein, olfactory type|guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type|guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide, olfactory type|heterotrimeric guanine nucleotide-binding protein 1O 20211030 - 9606 2775 GNAO1 - DEE17|EIEE17|G-ALPHA-o|GNAO|HG1G|HLA-DQB1|NEDIM MIM:139311|HGNC:HGNC:4389|Ensembl:ENSG00000087258 16 16q13 G protein subunit alpha o1 protein-coding GNAO1 G protein subunit alpha o1 O guanine nucleotide-binding protein G(o) subunit alpha|GO2-q chimeric G-protein|guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O|guanine nucleotide-binding regulatory protein 2|heterotrimeric guanine nucleotide-binding protein 1G 20211026 - 9606 2776 GNAQ - CMC1|G-ALPHA-q|GAQ|SWS MIM:600998|HGNC:HGNC:4390|Ensembl:ENSG00000156052 9 9q21.2 G protein subunit alpha q protein-coding GNAQ G protein subunit alpha q O guanine nucleotide-binding protein G(q) subunit alpha|epididymis secretory sperm binding protein|guanine nucleotide binding protein (G protein), q polypeptide|guanine nucleotide-binding protein alpha-q 20211003 - 9606 2777 GNAQP1 - GNAQP HGNC:HGNC:4391 2 2q21.1 G protein subunit alpha q pseudogene 1 pseudo GNAQP1 G protein subunit alpha q pseudogene 1 O guanine nucleotide binding protein (G protein), q polypeptide pseudogene 1|quanine nucleotide binding protein (G protein), q polypeptide pseudogene 20210611 - 9606 2778 GNAS - AHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI MIM:139320|HGNC:HGNC:4392|Ensembl:ENSG00000087460 20 20q13.32 GNAS complex locus protein-coding GNAS GNAS complex locus O protein ALEX|protein GNAS|protein SCG6 (secretogranin VI)|G protein subunit alpha S|adenylate cyclase-stimulating G alpha protein|alternative gene product encoded by XL-exon|extra large alphas protein|guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1|guanine nucleotide regulatory protein|secretogranin VI 20211031 - 9606 2779 GNAT1 - CSNB1G|CSNBAD3|GBT1|GNATR|HG1F MIM:139330|HGNC:HGNC:4393|Ensembl:ENSG00000114349 3 3p21.31 G protein subunit alpha transducin 1 protein-coding GNAT1 G protein subunit alpha transducin 1 O guanine nucleotide-binding protein G(t) subunit alpha-1|guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1|guanine nucleotide-binding protein G(T), alpha-1 subunit|heterotrimeric guanine nucleotide-binding protein 1F|rod-type transducin alpha subunit|transducin alpha-1 chain|transducin, rod-specific 20211014 - 9606 2780 GNAT2 - ACHM4|GNATC|HG1D MIM:139340|HGNC:HGNC:4394|Ensembl:ENSG00000134183 1 1p13.3 G protein subunit alpha transducin 2 protein-coding GNAT2 G protein subunit alpha transducin 2 O guanine nucleotide-binding protein G(t) subunit alpha-2|cone-type transducin alpha subunit|guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2|heterotrimeric guanine nucleotide-binding protein 1D|transducin alpha-2 chain|transducin, cone-specific, alpha polypeptide 20211014 - 9606 2781 GNAZ - HG1H|gz-alpha MIM:139160|HGNC:HGNC:4395|Ensembl:ENSG00000128266 22 22q11.22-q11.23 G protein subunit alpha z protein-coding GNAZ G protein subunit alpha z O guanine nucleotide-binding protein G(z) subunit alpha|g(x) alpha chain|guanine nucleotide binding protein (G protein), alpha z polypeptide|heterotrimeric guanine nucleotide-binding protein 1H|transducin alpha 20211026 - 9606 2782 GNB1 - HG2A|MDS|MRD42 MIM:139380|HGNC:HGNC:4396|Ensembl:ENSG00000078369 1 1p36.33 G protein subunit beta 1 protein-coding GNB1 G protein subunit beta 1 O guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1|beta subunit, signal-transducing proteins GS/GI|guanine nucleotide binding protein (G protein), beta polypeptide 1|heterotrimeric guanine nucleotide-binding protein 2A|testicular tissue protein Li 72|transducin beta chain 1 20211014 - 9606 2783 GNB2 - HG2C1|SSS4|SSS4; NEDHYDF MIM:139390|HGNC:HGNC:4398|Ensembl:ENSG00000172354 7 7q22.1 G protein subunit beta 2 protein-coding GNB2 G protein subunit beta 2 O guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2|G protein, beta-2 subunit|epididymis secretory sperm binding protein|g protein subunit beta-2|guanine nucleotide binding protein (G protein), beta polypeptide 2|guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2|heterotrimeric guanine nucleotide-binding protein 2C1|signal-transducing guanine nucleotide-binding regulatory protein beta subunit|transducin beta chain 2 20211014 - 9606 2784 GNB3 - CSNB1H|HG2D MIM:139130|HGNC:HGNC:4400|Ensembl:ENSG00000111664 12 12p13.31 G protein subunit beta 3 protein-coding GNB3 G protein subunit beta 3 O guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3|G protein, beta-3 subunit|GTP-binding regulatory protein beta-3 chain|guanine nucleotide binding protein (G protein), beta polypeptide 3|guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3|heterotrimeric guanine nucleotide-binding protein 2D|hypertension associated protein|transducin beta chain 3 20211014 - 9606 2785 GNG3 - HG3D MIM:608941|HGNC:HGNC:4405|Ensembl:ENSG00000162188 11 11q12.3 G protein subunit gamma 3 protein-coding GNG3 G protein subunit gamma 3 O guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3|NBP gamma-3|guanine nucleotide binding protein (G protein), gamma 3|guanine nucleotide-binding protein gamma-3 subunit|heterotrimeric guanine nucleotide-binding protein 3D 20211014 - 9606 2786 GNG4 - HG3C MIM:604388|HGNC:HGNC:4407|Ensembl:ENSG00000168243 1 1q42.3 G protein subunit gamma 4 protein-coding GNG4 G protein subunit gamma 4 O guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4|guanine nucleotide binding protein (G protein), gamma 4|guanine nucleotide binding protein 4|heterotrimeric guanine nucleotide-binding protein 3C 20211014 - 9606 2787 GNG5 - - MIM:600874|HGNC:HGNC:4408|Ensembl:ENSG00000174021 1 1p22.3 G protein subunit gamma 5 protein-coding GNG5 G protein subunit gamma 5 O guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5|guanine nucleotide binding protein (G protein), gamma 5 20210918 - 9606 2788 GNG7 - HG3B MIM:604430|HGNC:HGNC:4410|Ensembl:ENSG00000176533 19 19p13.3 G protein subunit gamma 7 protein-coding GNG7 G protein subunit gamma 7 O guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7|guanine nucleotide binding protein (G protein), gamma 7|heterotrimeric guanine nucleotide-binding protein 3B 20211014 - 9606 2789 GNG5P1 - GNG5P HGNC:HGNC:4409 6 6q27 G protein subunit gamma 5 pseudogene 1 pseudo GNG5P1 G protein subunit gamma 5 pseudogene 1 O guanine nucleotide binding protein (G protein), gamma 5 pseudogene 1 20210918 - 9606 2790 GNG10 - - MIM:604389|HGNC:HGNC:4402|Ensembl:ENSG00000242616 9 9q31.3 G protein subunit gamma 10 protein-coding GNG10 G protein subunit gamma 10 O guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10|guanine nucleotide binding protein (G protein), gamma 10|guanine nucleotide binding protein 10 20210622 - 9606 2791 GNG11 - GNGT11|HG3H1 MIM:604390|HGNC:HGNC:4403|Ensembl:ENSG00000127920 7 7q21.3 G protein subunit gamma 11 protein-coding GNG11 G protein subunit gamma 11 O guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11|G protein gamma-11 subunit|guanine nucleotide binding protein (G protein), gamma 11|guanine nucleotide-binding protein G(I)/G(S)/G(O) gamma-11 subunit|heterotrimeric guanine nucleotide-binding protein 3H1 20211014 - 9606 2792 GNGT1 - GNG1|HG3G1 MIM:189970|HGNC:HGNC:4411|Ensembl:ENSG00000127928 7 7q21.3 G protein subunit gamma transducin 1 protein-coding GNGT1 G protein subunit gamma transducin 1 O guanine nucleotide-binding protein G(T) subunit gamma-T1|guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1|heterotrimeric guanine nucleotide-binding protein 3G1|transducin gamma chain 20211014 - 9606 2793 GNGT2 - G-GAMMA-8|G-GAMMA-C|GNG9|GNGT8|HG3I MIM:139391|HGNC:HGNC:4412|Ensembl:ENSG00000167083 17 17q21.32 G protein subunit gamma transducin 2 protein-coding GNGT2 G protein subunit gamma transducin 2 O guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2|G protein cone gamma 8 subunit|G-gamma-9|g gamma-C|gamma-T2 subunit|guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2|guanine nucleotide binding protein gamma 9|guanine nucleotide binding protein gamma transducing activity polypeptide 2|heterotrimeric guanine nucleotide-binding protein 3I 20211014 - 9606 2794 GNL1 - HSR1 MIM:143024|HGNC:HGNC:4413|Ensembl:ENSG00000204590 6 6p21.33 G protein nucleolar 1 (putative) protein-coding GNL1 G protein nucleolar 1 (putative) O guanine nucleotide-binding protein-like 1|GTP-binding protein HSR1|HSR1 GTP-binding protein 20210905 - 9606 2796 GNRH1 - GNRH|GRH|LHRH|LNRH MIM:152760|HGNC:HGNC:4419|Ensembl:ENSG00000147437 8 8p21.2 gonadotropin releasing hormone 1 protein-coding GNRH1 gonadotropin releasing hormone 1 O progonadoliberin-1|GnRH-associated peptide 1|gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)|leuteinizing-releasing hormone|luliberin I|prolactin release-inhibiting factor 20210708 - 9606 2797 GNRH2 - GnRH-II|LH-RHII MIM:602352|HGNC:HGNC:4420|Ensembl:ENSG00000125787 20 20p13 gonadotropin releasing hormone 2 protein-coding GNRH2 gonadotropin releasing hormone 2 O progonadoliberin-2|GnRH-associated peptide 2|GnRH-associated peptide II|Gonadoliberin II|Gonadoliberin-2|luliberin II|luteinizing hormone-releasing hormone II|progonadoliberin II 20210708 - 9606 2798 GNRHR - GNRHR1|GRHR|HH7|LHRHR|LRHR MIM:138850|HGNC:HGNC:4421|Ensembl:ENSG00000109163 4 4q13.2 gonadotropin releasing hormone receptor protein-coding GNRHR gonadotropin releasing hormone receptor O gonadotropin-releasing hormone receptor|gnRH receptor|gnRH-R|gonadotropin-releasing hormone (type 1) receptor 1|leutinizing hormone releasing horomone receptor|leutinizing-releasing hormone receptor|luliberin receptor|type I GnRH receptor 20211031 - 9606 2799 GNS - G6S MIM:607664|HGNC:HGNC:4422|Ensembl:ENSG00000135677 12 12q14.3 glucosamine (N-acetyl)-6-sulfatase protein-coding GNS glucosamine (N-acetyl)-6-sulfatase O N-acetylglucosamine-6-sulfatase|glucosamine -6-sulfatase 20210708 - 9606 2800 GOLGA1 - golgin-97 MIM:602502|HGNC:HGNC:4424|Ensembl:ENSG00000136935 9 9q33.3 golgin A1 protein-coding GOLGA1 golgin A1 O golgin subfamily A member 1|gap junction protein, alpha 4, 37kD|golgi autoantigen, golgin subfamily a, 1 20210704 - 9606 2801 GOLGA2 - GM130 MIM:602580|HGNC:HGNC:4425|Ensembl:ENSG00000167110 9 9q34.11 golgin A2 protein-coding GOLGA2 golgin A2 O golgin subfamily A member 2|130 kDa cis-Golgi matrix protein|GM130 autoantigen|Golgi matrix protein GM130|SY11 protein|golgi autoantigen, golgin subfamily a, 2|golgin-95 20210905 - 9606 2802 GOLGA3 - GCP170|MEA-2 MIM:602581|HGNC:HGNC:4426|Ensembl:ENSG00000090615 12 12q24.33 golgin A3 protein-coding GOLGA3 golgin A3 O golgin subfamily A member 3|Golgi membrane associated protein|Golgi peripheral membrane protein|SY2/SY10 protein|golgi autoantigen, golgin subfamily a, 3|golgi complex-associated protein of 170 kDa|golgin-160|golgin-165|male enhanced antigen-2 20210905 - 9606 2803 GOLGA4 - CRPF46|GCP2|GOLG|MU-RMS-40.18|p230 MIM:602509|HGNC:HGNC:4427|Ensembl:ENSG00000144674 3 3p22.2 golgin A4 protein-coding GOLGA4 golgin A4 O golgin subfamily A member 4|256 kDa golgin|72.1 protein|centrosome-related protein F46|golgi autoantigen, golgin subfamily a, 4|golgin-240|golgin-245|protein 72.1|trans-Golgi p230 20211009 - 9606 2804 GOLGB1 - GCP|GCP372|GOLIM1 MIM:602500|HGNC:HGNC:4429|Ensembl:ENSG00000173230 3 3q13.33 golgin B1 protein-coding GOLGB1 golgin B1 O golgin subfamily B member 1|372 kDa Golgi complex-associated protein|giantin|golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1|golgi integral membrane protein 1|golgin B1, golgi integral membrane protein 20210910 - 9606 2805 GOT1 - AST1|ASTQTL1|GIG18|cAspAT|cCAT MIM:138180|HGNC:HGNC:4432|Ensembl:ENSG00000120053 10 10q24.2 glutamic-oxaloacetic transaminase 1 protein-coding GOT1 glutamic-oxaloacetic transaminase 1 O aspartate aminotransferase, cytoplasmic|aspartate aminotransferase 1|aspartate transaminase 1|cysteine aminotransferase, cytoplasmic|cysteine transaminase, cytoplasmic|glutamate oxaloacetate transaminase 1|glutamic-oxaloacetic transaminase 1, soluble|growth-inhibiting protein 18|testis secretory sperm-binding protein Li 196a|transaminase A 20211017 - 9606 2806 GOT2 - DEE82|KAT4|KATIV|KYAT4|mitAAT MIM:138150|HGNC:HGNC:4433|Ensembl:ENSG00000125166 16 16q21 glutamic-oxaloacetic transaminase 2 protein-coding GOT2 glutamic-oxaloacetic transaminase 2 O aspartate aminotransferase, mitochondrial|FABP-1|FABPpm|aspartate aminotransferase 2|aspartate transaminase 2|fatty acid-binding protein|glutamate oxaloacetate transaminase 2|glutamic-oxaloacetic transaminase 2, mitochondrial|kynurenine aminotransferase 4|kynurenine aminotransferase IV|kynurenine--oxoglutarate transaminase 4|kynurenine--oxoglutarate transaminase IV|mAspAT|plasma membrane-associated fatty acid-binding protein|transaminase A 20210708 - 9606 2810 SFN - YWHAS MIM:601290|HGNC:HGNC:10773|Ensembl:ENSG00000175793 1 1p36.11 stratifin protein-coding SFN stratifin O 14-3-3 protein sigma|epithelial cell marker protein 1 20210822 - 9606 2811 GP1BA - BDPLT1|BDPLT3|BSS|CD42B|CD42b-alpha|DBPLT3|GP1B|GPIbA|GPIbalpha|VWDP MIM:606672|HGNC:HGNC:4439|Ensembl:ENSG00000185245 17 17p13.2 glycoprotein Ib platelet subunit alpha protein-coding GP1BA glycoprotein Ib platelet subunit alpha O platelet glycoprotein Ib alpha chain|GP-Ib alpha|antigen CD42b-alpha|glycoprotein Ib (platelet), alpha polypeptide|glycoprotein Ib platelet alpha subunit|mutant platelet membrane glycoprotein Ib-alpha|platelet membrane glycoprotein 1b-alpha subunit|platelet membrane glycoprotein Ib-alpha 20210719 - 9606 2812 GP1BB - BDPLT1|BS|CD42C|GPIBB|GPIbbeta MIM:138720|HGNC:HGNC:4440|Ensembl:ENSG00000203618 22 22q11.21 glycoprotein Ib platelet subunit beta protein-coding GP1BB glycoprotein Ib platelet subunit beta O platelet glycoprotein Ib beta chain|GP-Ib beta|antigen CD42b-beta|glycoprotein Ib (platelet), beta polypeptide|glycoprotein Ib platelet beta subunit|nuclear localization signal deleted in velocardiofacial syndrome|platelet membrane glycoprotein Ib beta|truncated platelet membrane glycoprotein Ib beta 20211031 - 9606 2813 GP2 - ZAP75 MIM:602977|HGNC:HGNC:4441|Ensembl:ENSG00000169347 16 16p12.3 glycoprotein 2 protein-coding GP2 glycoprotein 2 O pancreatic secretory granule membrane major glycoprotein GP2|glycoprotein 2 (zymogen granule membrane)|pancreatic zymogen granule membrane associated protein GP2 20210926 - 9606 2814 GP5 - CD42d|GPV MIM:173511|HGNC:HGNC:4443|Ensembl:ENSG00000178732 3 3q29 glycoprotein V platelet protein-coding GP5 glycoprotein V platelet O platelet glycoprotein V|glycoprotein 5 20210708 - 9606 2815 GP9 - CD42a|GPIX MIM:173515|HGNC:HGNC:4444|Ensembl:ENSG00000169704 3 3q21.3 glycoprotein IX platelet protein-coding GP9 glycoprotein IX platelet O platelet glycoprotein IX|glycoprotein 9 20210708 - 9606 2817 GPC1 - glypican MIM:600395|HGNC:HGNC:4449|Ensembl:ENSG00000063660 2 2q37.3 glypican 1 protein-coding GPC1 glypican 1 O glypican-1|epididymis secretory sperm binding protein|glypican proteoglycan 1 20210708 - 9606 2819 GPD1 - GPD-C|GPDH-C|HTGTI MIM:138420|HGNC:HGNC:4455|Ensembl:ENSG00000167588 12 12q13.12 glycerol-3-phosphate dehydrogenase 1 protein-coding GPD1 glycerol-3-phosphate dehydrogenase 1 O glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic|epididymis secretory sperm binding protein|glycerol-3-phosphate dehydrogenase 1 (soluble)|glycerol-3-phosphate dehydrogenase [NAD+], cytoplasmic|glycerophosphate dehydrogenase 20210708 - 9606 2820 GPD2 - GDH2|GPDM|mGDH|mGPDH MIM:138430|HGNC:HGNC:4456|Ensembl:ENSG00000115159 2 2q24.1 glycerol-3-phosphate dehydrogenase 2 protein-coding GPD2 glycerol-3-phosphate dehydrogenase 2 O glycerol-3-phosphate dehydrogenase, mitochondrial|GPD-M|GPDH-M|glycerol-3-phosphate dehydrogenase 2 (mitochondrial)|mitochondrial glycerophosphate dehydrogenase|mitohondrial glycerophosphate dehydrogenase|mtGPD|testicular tissue protein Li 76 20211003 - 9606 2821 GPI - AMF|GNPI|NLK|PGI|PHI|SA-36|SA36 MIM:172400|HGNC:HGNC:4458|Ensembl:ENSG00000105220 19 19q13.11 glucose-6-phosphate isomerase protein-coding GPI glucose-6-phosphate isomerase O glucose-6-phosphate isomerase|autocrine motility factor|hexose monophosphate isomerase|hexosephosphate isomerase|neuroleukin|oxoisomerase|phosphoglucose isomerase|phosphohexomutase|phosphohexose isomerase|phosphosaccharomutase|sperm antigen-36 20210905 - 9606 2822 GPLD1 - GPIPLD|GPIPLDM|PIGPLD|PIGPLD1|PLD MIM:602515|HGNC:HGNC:4459|Ensembl:ENSG00000112293 6 6p22.3 glycosylphosphatidylinositol specific phospholipase D1 protein-coding GPLD1 glycosylphosphatidylinositol specific phospholipase D1 O phosphatidylinositol-glycan-specific phospholipase D|GPI-PLD|GPI-specific phospholipase D|PI-G PLD|glycoprotein phospholipase D 20210822 - 9606 2823 GPM6A - GPM6|M6A MIM:601275|HGNC:HGNC:4460|Ensembl:ENSG00000150625 4 4q34.2 glycoprotein M6A protein-coding GPM6A glycoprotein M6A O neuronal membrane glycoprotein M6-a 20210926 - 9606 2824 GPM6B - M6B MIM:300051|HGNC:HGNC:4461|Ensembl:ENSG00000046653 X Xp22.2 glycoprotein M6B protein-coding GPM6B glycoprotein M6B O neuronal membrane glycoprotein M6-b|protolipid M6B 20210822 - 9606 2825 CMKLR2 - GPR1 MIM:600239|HGNC:HGNC:4463|Ensembl:ENSG00000183671 2 2q33.3 chemerin chemokine-like receptor 2 protein-coding CMKLR2 chemerin chemokine-like receptor 2 O G-protein coupled receptor 1|G protein-coupled receptor 1|probable G-protein coupled receptor 1 20210711 - 9606 2826 CCR10 - GPR2 MIM:600240|HGNC:HGNC:4474|Ensembl:ENSG00000184451 17 17q21.2 C-C motif chemokine receptor 10 protein-coding CCR10 C-C motif chemokine receptor 10 O C-C chemokine receptor type 10|C-C CKR-10|CC chemokine receptor 10|CC-CKR-10|CCR-10|G-protein coupled receptor 2|chemokine (C-C motif) receptor 10 20210708 - 9606 2827 GPR3 - ACCA MIM:600241|HGNC:HGNC:4484|Ensembl:ENSG00000181773 1 1p36.11 G protein-coupled receptor 3 protein-coding GPR3 G protein-coupled receptor 3 O G-protein coupled receptor 3|ACCA orphan receptor|adenylate cyclase constitutive activator 20210719 - 9606 2828 GPR4 - GPR6C.l MIM:600551|HGNC:HGNC:4497|Ensembl:ENSG00000177464 19 19q13.32 G protein-coupled receptor 4 protein-coding GPR4 G protein-coupled receptor 4 O G-protein coupled receptor 4|G-protein coupled receptor 19|G-protein coupled receptor 6C.l 20210906 - 9606 2829 XCR1 - CCXCR1|GPR5 MIM:600552|HGNC:HGNC:1625|Ensembl:ENSG00000173578 3 3p21.31 X-C motif chemokine receptor 1 protein-coding XCR1 X-C motif chemokine receptor 1 O chemokine XC receptor 1|G protein-coupled receptor 5|XC chemokine receptor 1|chemokine (C motif) XC receptor 1|chemokine (C motif) receptor 1|lymphotactin receptor 20210809 - 9606 2830 GPR6 - - MIM:600553|HGNC:HGNC:4515|Ensembl:ENSG00000146360 6 6q21 G protein-coupled receptor 6 protein-coding GPR6 G protein-coupled receptor 6 O G-protein coupled receptor 6|sphingosine 1-phosphate receptor GPR6 20210611 - 9606 2831 NPBWR1 - GPR7 MIM:600730|HGNC:HGNC:4522|Ensembl:ENSG00000288611 8 8q11.23 neuropeptides B and W receptor 1 protein-coding NPBWR1 neuropeptides B and W receptor 1 O neuropeptides B/W receptor type 1|G-protein coupled receptor 7|neuropeptide B/W receptor 1|neuropeptides B/W receptor 1|opioid-somatostatin-like receptor 7 20210708 - 9606 2832 NPBWR2 - GPR8 MIM:600731|HGNC:HGNC:4530|Ensembl:ENSG00000125522 20 20q13.33 neuropeptides B and W receptor 2 protein-coding NPBWR2 neuropeptides B and W receptor 2 O neuropeptides B/W receptor type 2|G-protein coupled receptor 8|neuropeptides B/W receptor 2|opioid-somatostatin-like receptor 8 20210708 - 9606 2833 CXCR3 - CD182|CD183|CKR-L2|CMKAR3|GPR9|IP10-R|Mig-R|MigR MIM:300574|HGNC:HGNC:4540|Ensembl:ENSG00000186810 X Xq13.1 C-X-C motif chemokine receptor 3 protein-coding CXCR3 C-X-C motif chemokine receptor 3 O C-X-C chemokine receptor type 3|G protein-coupled receptor 9|IP-10 receptor|Mig receptor|chemokine (C-X-C motif) receptor 3|chemokine receptor 3|interferon-inducible protein 10 receptor 20211026 - 9606 2834 PRLHR - GPR10|GR3|PrRPR MIM:600895|HGNC:HGNC:4464|Ensembl:ENSG00000119973 10 10q26.11 prolactin releasing hormone receptor protein-coding PRLHR prolactin releasing hormone receptor O prolactin-releasing peptide receptor|G-protein coupled receptor 10|hGR3|prRP receptor 20210708 - 9606 2835 GPR12 - GPCR12|GPCR21|PPP1R84 MIM:600752|HGNC:HGNC:4466|Ensembl:ENSG00000132975 13 13q12.13 G protein-coupled receptor 12 protein-coding GPR12 G protein-coupled receptor 12 O G-protein coupled receptor 12|protein phosphatase 1, regulatory subunit 84 20210611 - 9606 2837 UTS2R - GPR14|UR-2-R|UTR|UTR2 MIM:600896|HGNC:HGNC:4468|Ensembl:ENSG00000181408 17 17q25.3 urotensin 2 receptor protein-coding UTS2R urotensin 2 receptor O urotensin-2 receptor|G-protein coupled receptor 14|UR-II-R|urotensin II receptor 20210708 - 9606 2838 GPR15 - BOB MIM:601166|HGNC:HGNC:4469|Ensembl:ENSG00000154165 3 3q11.2 G protein-coupled receptor 15 protein-coding GPR15 G protein-coupled receptor 15 O G-protein coupled receptor 15|brother of Bonzo 20210708 - 9606 2840 GPR17 - - MIM:603071|HGNC:HGNC:4471|Ensembl:ENSG00000144230 2 2q14.3 G protein-coupled receptor 17 protein-coding GPR17 G protein-coupled receptor 17 O uracil nucleotide/cysteinyl leukotriene receptor|P2Y-like receptor|R12|UDP/CysLT receptor 20211016 - 9606 2841 GPR18 - - MIM:602042|HGNC:HGNC:4472|Ensembl:ENSG00000125245 13 13q32.3 G protein-coupled receptor 18 protein-coding GPR18 G protein-coupled receptor 18 O N-arachidonyl glycine receptor|NAGly receptor 20210708 - 9606 2842 GPR19 - - MIM:602927|HGNC:HGNC:4473|Ensembl:ENSG00000183150 12 12p13.1 G protein-coupled receptor 19 protein-coding GPR19 G protein-coupled receptor 19 O probable G-protein coupled receptor 19|GPR-NGA 20210708 - 9606 2843 GPR20 - - MIM:601908|HGNC:HGNC:4475|Ensembl:ENSG00000204882 8 8q24.3 G protein-coupled receptor 20 protein-coding GPR20 G protein-coupled receptor 20 O G-protein coupled receptor 20|CTD-3064M3.3 20210708 - 9606 2844 GPR21 - - MIM:601909|HGNC:HGNC:4476|Ensembl:ENSG00000188394 9 9q33.2 G protein-coupled receptor 21 protein-coding GPR21 G protein-coupled receptor 21 O probable G-protein coupled receptor 21 20210611 - 9606 2845 GPR22 - - MIM:601910|HGNC:HGNC:4477|Ensembl:ENSG00000172209 7 7q22.3 G protein-coupled receptor 22 protein-coding GPR22 G protein-coupled receptor 22 O G-protein coupled receptor 22|probable G-protein coupled receptor 22 20210611 - 9606 2846 LPAR4 - GPR23|LPA4|P2RY9|P2Y5-LIKE|P2Y9 MIM:300086|HGNC:HGNC:4478|Ensembl:ENSG00000147145 X Xq21.1 lysophosphatidic acid receptor 4 protein-coding LPAR4 lysophosphatidic acid receptor 4 O lysophosphatidic acid receptor 4|G-protein coupled receptor 23|LPA receptor 4|LPA-4|P2Y purinoceptor 9|P2Y5-like receptor|purinergic receptor 9 20210711 - 9606 2847 MCHR1 - GPR24|MCH-1R|MCH1R|SLC-1|SLC1 MIM:601751|HGNC:HGNC:4479|Ensembl:ENSG00000128285 22 22q13.2 melanin concentrating hormone receptor 1 protein-coding MCHR1 melanin concentrating hormone receptor 1 O melanin-concentrating hormone receptor 1|G protein-coupled receptor 24|MCH receptor 1|somatostatin receptor-like protein 20210708 - 9606 2848 GPR25 - - MIM:602174|HGNC:HGNC:4480|Ensembl:ENSG00000170128 1 1q32.1 G protein-coupled receptor 25 protein-coding GPR25 G protein-coupled receptor 25 O probable G-protein coupled receptor 25 20210708 - 9606 2849 GPR26 - - MIM:604847|HGNC:HGNC:4481|Ensembl:ENSG00000154478 10 10q26.13 G protein-coupled receptor 26 protein-coding GPR26 G protein-coupled receptor 26 O G-protein coupled receptor 26 20210611 - 9606 2850 GPR27 - SREB1 MIM:605187|HGNC:HGNC:4482|Ensembl:ENSG00000170837 3 3p13 G protein-coupled receptor 27 protein-coding GPR27 G protein-coupled receptor 27 O probable G-protein coupled receptor 27|super conserved receptor expressed in brain 1 20210708 - 9606 2852 GPER1 - CEPR|CMKRL2|DRY12|FEG-1|GPCR-Br|GPER|GPR30|LERGU|LERGU2|LyGPR|mER MIM:601805|HGNC:HGNC:4485|Ensembl:ENSG00000164850 7 7p22.3 G protein-coupled estrogen receptor 1 protein-coding GPER1 G protein-coupled estrogen receptor 1 O G-protein coupled estrogen receptor 1|G protein-coupled receptor 30|IL8-related receptor DRY12|chemoattractant receptor-like 2|chemokine receptor-like 2|constitutively expressed peptide-like receptor|flow-induced endothelial G-protein coupled receptor 1|heptahelix receptor|lymphocyte-derived G-protein coupled receptor|membrane estrogen receptor 20211031 - 9606 2853 GPR31 - 12-HETER|HETER|HETER1 MIM:602043|HGNC:HGNC:4486|Ensembl:ENSG00000120436 6 6q27 G protein-coupled receptor 31 protein-coding GPR31 G protein-coupled receptor 31 O 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor|12-(S)-HETE acid receptor|12-(S)-HETE receptor|12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid (HETE) receptor|GPR31/12-HETER|bA517H2.2 (G protein-coupled receptor 31)|hydroxyeicosatetraenoic (HETE) acid receptor 1|probable G-protein coupled receptor 31 20210708 - 9606 2854 GPR32 - RVDR1 MIM:603195|HGNC:HGNC:4487|Ensembl:ENSG00000142511 19 19q13.33 G protein-coupled receptor 32 protein-coding GPR32 G protein-coupled receptor 32 O probable G-protein coupled receptor 32|resolvin D1 receptor 20211026 - 9606 2855 GPR32P1 - GPR32P|hGPCR39 HGNC:HGNC:4488 19 19q13.33 GPR32 pseudogene 1 pseudo GPR32P1 GPR32 pseudogene 1 O G protein-coupled receptor 32, pseudogene 1|Putative G-protein coupled receptor GPCR39 20210724 - 9606 2856 GPR33 - - MIM:610118|HGNC:HGNC:4489|Ensembl:ENSG00000214943 14 14q12 G protein-coupled receptor 33 protein-coding GPR33 G protein-coupled receptor 33 O probable G-protein coupled receptor 33|G protein-coupled receptor 33 pseudogene 20210611 - 9606 2857 GPR34 - LYPSR1 MIM:300241|HGNC:HGNC:4490|Ensembl:ENSG00000171659 X Xp11.4 G protein-coupled receptor 34 protein-coding GPR34 G protein-coupled receptor 34 O probable G-protein coupled receptor 34 20210611 - 9606 2859 GPR35 - - MIM:602646|HGNC:HGNC:4492|Ensembl:ENSG00000178623 2 2q37.3 G protein-coupled receptor 35 protein-coding GPR35 G protein-coupled receptor 35 O G-protein coupled receptor 35|KYNA receptor|kynurenic acid receptor 20211023 - 9606 2860 GPR36 - - HGNC:HGNC:4493 - - G protein-coupled receptor 36 protein-coding GPR36 G protein-coupled receptor 36 O G protein-coupled receptor 36 20190324 - 9606 2861 GPR37 - EDNRBL|PAELR|hET(B)R-LP MIM:602583|HGNC:HGNC:4494|Ensembl:ENSG00000170775 7 7q31.33 G protein-coupled receptor 37 protein-coding GPR37 G protein-coupled receptor 37 O prosaposin receptor GPR37|ETBR-LP-1|G protein-coupled receptor 37 (endothelin receptor type B-like)|Parkin-associated endothelin receptor-like receptor|endothelin B receptor-like protein 1|probable G-protein coupled receptor 37 20210708 - 9606 2862 MLNR - GPR38|MTLR1 MIM:602885|HGNC:HGNC:4495|Ensembl:ENSG00000102539 13 13q14.2 motilin receptor protein-coding MLNR motilin receptor O motilin receptor|G protein-coupled receptor 38 20210708 - 9606 2863 GPR39 - - MIM:602886|HGNC:HGNC:4496|Ensembl:ENSG00000183840 2 2q21.2 G protein-coupled receptor 39 protein-coding GPR39 G protein-coupled receptor 39 O G-protein coupled receptor 39 20210926 - 9606 2864 FFAR1 - FFA1R|GPCR40|GPR40 MIM:603820|HGNC:HGNC:4498|Ensembl:ENSG00000126266 19 19q13.12 free fatty acid receptor 1 protein-coding FFAR1 free fatty acid receptor 1 O free fatty acid receptor 1|G-protein coupled receptor 40 20210708 - 9606 2865 FFAR3 - FFA3R|GPR41|GPR42 MIM:603821|HGNC:HGNC:4499|Ensembl:ENSG00000185897 19 19q13.12 free fatty acid receptor 3 protein-coding FFAR3 free fatty acid receptor 3 O free fatty acid receptor 3|G-protein coupled receptor 41 20210708 - 9606 2866 GPR42 - FFAR1L|FFAR3L|GPR41L|GPR42P MIM:603822|HGNC:HGNC:4500|Ensembl:ENSG00000126251 19 19q13.12 G protein-coupled receptor 42 protein-coding GPR42 G protein-coupled receptor 42 O G-protein coupled receptor 42|G protein-coupled receptor 42 pseudogene|G-protein coupled receptor 20210611 - 9606 2867 FFAR2 - FFA2R|GPR43 MIM:603823|HGNC:HGNC:4501|Ensembl:ENSG00000126262 19 19q13.12 free fatty acid receptor 2 protein-coding FFAR2 free fatty acid receptor 2 O free fatty acid receptor 2|G-protein coupled receptor 43|fatty acid receptor 2|free fatty acid activated receptor 2 20210822 - 9606 2868 GRK4 - GPRK2L|GPRK4|GRK4a|IT11 MIM:137026|HGNC:HGNC:4543|Ensembl:ENSG00000125388 4 4p16.3 G protein-coupled receptor kinase 4 protein-coding GRK4 G protein-coupled receptor kinase 4 O G protein-coupled receptor kinase 4|G protein-coupled receptor kinase 2-like 20211016 - 9606 2869 GRK5 - FP2025|GPRK5 MIM:600870|HGNC:HGNC:4544|Ensembl:ENSG00000198873 10 10q26.11 G protein-coupled receptor kinase 5 protein-coding GRK5 G protein-coupled receptor kinase 5 O G protein-coupled receptor kinase 5|g protein-coupled receptor kinase GRK5 20210708 - 9606 2870 GRK6 - GPRK6 MIM:600869|HGNC:HGNC:4545|Ensembl:ENSG00000198055 5 5q35.3 G protein-coupled receptor kinase 6 protein-coding GRK6 G protein-coupled receptor kinase 6 O G protein-coupled receptor kinase 6 20210906 - 9606 2871 GRK6P1 - GPRK6L|GPRK6P|GRK6PS HGNC:HGNC:4547 13 13q12.11 G protein-coupled receptor kinase 6 pseudogene 1 pseudo GRK6P1 G protein-coupled receptor kinase 6 pseudogene 1 O - 20210724 - 9606 2872 MKNK2 - GPRK7|MNK2 MIM:605069|HGNC:HGNC:7111|Ensembl:ENSG00000099875 19 19p13.3 MAPK interacting serine/threonine kinase 2 protein-coding MKNK2 MAPK interacting serine/threonine kinase 2 O MAP kinase-interacting serine/threonine-protein kinase 2|G protein-coupled receptor kinase 7|MAP kinase interacting serine/threonine kinase 2|MAP kinase signal-integrating kinase 2|MAPK signal-integrating kinase 2 20211028 - 9606 2873 GPS1 - COPS1|CSN1|SGN1 MIM:601934|HGNC:HGNC:4549|Ensembl:ENSG00000169727 17 17q25.3 G protein pathway suppressor 1 protein-coding GPS1 G protein pathway suppressor 1 O COP9 signalosome complex subunit 1|JAB1-containing signalosome subunit 1 20211016 - 9606 2874 GPS2 - AMF-1 MIM:601935|HGNC:HGNC:4550|Ensembl:ENSG00000132522 17 17p13.1 G protein pathway suppressor 2 protein-coding GPS2 G protein pathway suppressor 2 O G protein pathway suppressor 2|GPS-2 20210912 - 9606 2875 GPT - AAT1|ALT1|GPT1 MIM:138200|HGNC:HGNC:4552|Ensembl:ENSG00000167701 8 8q24.3 glutamic--pyruvic transaminase protein-coding GPT glutamic--pyruvic transaminase O alanine aminotransferase 1|alanine aminotransferase|alanine transaminase|glutamate pyruvate transaminase 1|glutamic--pyruvic transaminase 1|glutamic-alanine transaminase 1|glutamic-pyruvate transaminase (alanine aminotransferase) 20210822 - 9606 2876 GPX1 - GPXD|GSHPX1 MIM:138320|HGNC:HGNC:4553|Ensembl:ENSG00000233276 3 3p21.31 glutathione peroxidase 1 protein-coding GPX1 glutathione peroxidase 1 O glutathione peroxidase 1|GSHPx-1|cellular glutathione peroxidase|selenoprotein GPX1 20210906 - 9606 2877 GPX2 - GI-GPx|GPRP|GPRP-2|GPx-2|GPx-GI|GSHPX-GI|GSHPx-2 MIM:138319|HGNC:HGNC:4554|Ensembl:ENSG00000176153 14 14q23.3 glutathione peroxidase 2 protein-coding GPX2 glutathione peroxidase 2 O glutathione peroxidase 2|gastrointestinal glutathione peroxidase|glutathione peroxidase 2 (gastrointestinal)|glutathione peroxidase-related protein 2|selenoprotein GPX2 20210708 - 9606 2878 GPX3 - GPx-P|GSHPx-3|GSHPx-P MIM:138321|HGNC:HGNC:4555|Ensembl:ENSG00000211445 5 5q33.1 glutathione peroxidase 3 protein-coding GPX3 glutathione peroxidase 3 O glutathione peroxidase 3|GPx-3|extracellular glutathione peroxidase|glutathione peroxidase 3 (plasma)|plasma glutathione peroxidase|selenoprotein GPX3 20211003 - 9606 2879 GPX4 - GPx-4|GSHPx-4|MCSP|PHGPx|SMDS|snGPx|snPHGPx MIM:138322|HGNC:HGNC:4556|Ensembl:ENSG00000167468 19 19p13.3 glutathione peroxidase 4 protein-coding GPX4 glutathione peroxidase 4 O phospholipid hydroperoxide glutathione peroxidase|epididymis secretory sperm binding protein|phospholipid hydroperoxidase|phospholipid hydroperoxide glutathione peroxidase, mitochondrial|selenoprotein GPX4|sperm nucleus glutathione peroxidase 20211031 - 9606 2880 GPX5 - EGLP|GPx-5|GSHPx-5|HEL-S-75p MIM:603435|HGNC:HGNC:4557|Ensembl:ENSG00000224586 6 6p22.1 glutathione peroxidase 5 protein-coding GPX5 glutathione peroxidase 5 O epididymal secretory glutathione peroxidase|epididymal androgen-related protein|epididymis secretory sperm binding protein Li 75p|epididymis-specific glutathione peroxidase-like protein 20210708 - 9606 2882 GPX7 - CL683|GPX6|GPx-7|GSHPx-7|NPGPx MIM:615784|HGNC:HGNC:4559|Ensembl:ENSG00000116157 1 1p32.3 glutathione peroxidase 7 protein-coding GPX7 glutathione peroxidase 7 O glutathione peroxidase 7|glutathione peroxidase 6|non-selenocysteine containing phospholipid hydroperoxide glutathione peroxidase 20211003 - 9606 2884 GPX1P2 - GPXL1|GPXL2|GPXP2|GPXP2P HGNC:HGNC:4561 21 21q21.3 glutathione peroxidase pseudogene 2 pseudo GPX1P2 glutathione peroxidase pseudogene 2 O glutathione peroxidase 1 pseudogene 20210611 - 9606 2885 GRB2 - ASH|EGFRBP-GRB2|Grb3-3|MST084|MSTP084|NCKAP2 MIM:108355|HGNC:HGNC:4566|Ensembl:ENSG00000177885 17 17q25.1 growth factor receptor bound protein 2 protein-coding GRB2 growth factor receptor bound protein 2 O growth factor receptor-bound protein 2|HT027|SH2/SH3 adapter GRB2|abundant SRC homology|epidermal growth factor receptor-binding protein GRB2|epididymis secretory sperm binding protein|growth factor receptor-bound protein 3|protein Ash 20211017 - 9606 2886 GRB7 - - MIM:601522|HGNC:HGNC:4567|Ensembl:ENSG00000141738 17 17q12 growth factor receptor bound protein 7 protein-coding GRB7 growth factor receptor bound protein 7 O growth factor receptor-bound protein 7|B47|GRB7 adapter protein|epidermal growth factor receptor GRB-7 20210708 - 9606 2887 GRB10 - GRB-IR|Grb-10|IRBP|MEG1|RSS MIM:601523|HGNC:HGNC:4564|Ensembl:ENSG00000106070 7 7p12.1 growth factor receptor bound protein 10 protein-coding GRB10 growth factor receptor bound protein 10 O growth factor receptor-bound protein 10|GRB10 adapter protein|GRB10 adaptor protein|insulin receptor-binding protein Grb-IR|maternally expressed gene 1 20211016 - 9606 2888 GRB14 - - MIM:601524|HGNC:HGNC:4565|Ensembl:ENSG00000115290 2 2q24.3 growth factor receptor bound protein 14 protein-coding GRB14 growth factor receptor bound protein 14 O growth factor receptor-bound protein 14|GRB14 adapter protein 20210708 - 9606 2889 RAPGEF1 - C3G|GRF2 MIM:600303|HGNC:HGNC:4568|Ensembl:ENSG00000107263 9 9q34.13 Rap guanine nucleotide exchange factor 1 protein-coding RAPGEF1 Rap guanine nucleotide exchange factor 1 O rap guanine nucleotide exchange factor 1|CRK SH3-binding GNRP|Rap guanine nucleotide exchange factor (GEF) 1|guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene) 20211031 - 9606 2890 GRIA1 - GLUH1|GLUR1|GLURA|GluA1|HBGR1 MIM:138248|HGNC:HGNC:4571|Ensembl:ENSG00000155511 5 5q33.2 glutamate ionotropic receptor AMPA type subunit 1 protein-coding GRIA1 glutamate ionotropic receptor AMPA type subunit 1 O glutamate receptor 1|AMPA 1|AMPA-selective glutamate receptor 1|gluR-1|gluR-A|gluR-K1|glutamate receptor, ionotropic, AMPA 1 20211031 - 9606 2891 GRIA2 - GLUR2|GLURB|GluA2|GluR-K2|HBGR2|NEDLIB|gluR-2|gluR-B MIM:138247|HGNC:HGNC:4572|Ensembl:ENSG00000120251 4 4q32.1 glutamate ionotropic receptor AMPA type subunit 2 protein-coding GRIA2 glutamate ionotropic receptor AMPA type subunit 2 O glutamate receptor 2|AMPA-selective glutamate receptor 2|glutamate receptor, ionotropic, AMPA 2 20210906 - 9606 2892 GRIA3 - GLUR-C|GLUR-K3|GLUR3|GLURC|GluA3|MRX94|MRXSW MIM:305915|HGNC:HGNC:4573|Ensembl:ENSG00000125675 X Xq25 glutamate ionotropic receptor AMPA type subunit 3 protein-coding GRIA3 glutamate ionotropic receptor AMPA type subunit 3 O glutamate receptor 3|AMPA-selective glutamate receptor 3|dJ1171F9.1|gluR-3|glutamate receptor C|glutamate receptor subunit 3|glutamate receptor, ionotrophic, AMPA 3|glutamate receptor, ionotropic, AMPA 3 20211017 - 9606 2893 GRIA4 - GLUR4|GLUR4C|GLURD|GluA4|GluA4-ATD|NEDSGA MIM:138246|HGNC:HGNC:4574|Ensembl:ENSG00000152578 11 11q22.3 glutamate ionotropic receptor AMPA type subunit 4 protein-coding GRIA4 glutamate ionotropic receptor AMPA type subunit 4 O glutamate receptor 4|AMPA-selective glutamate receptor 4|gluR-4|gluR-D|glutamate receptor, ionotrophic, AMPA 4|glutamate receptor, ionotropic, AMPA 4 20211009 - 9606 2894 GRID1 - GluD1|GluD1-b MIM:610659|HGNC:HGNC:4575|Ensembl:ENSG00000182771 10 10q23.1-q23.2 glutamate ionotropic receptor delta type subunit 1 protein-coding GRID1 glutamate ionotropic receptor delta type subunit 1 O glutamate receptor ionotropic, delta-1|gluR delta-1 subunit|glutamate receptor delta-1 subunit 20210628 - 9606 2895 GRID2 - GluD2|SCAR18 MIM:602368|HGNC:HGNC:4576|Ensembl:ENSG00000152208 4 4q22.1-q22.2 glutamate ionotropic receptor delta type subunit 2 protein-coding GRID2 glutamate ionotropic receptor delta type subunit 2 O glutamate receptor ionotropic, delta-2|gluR delta-2 subunit|glutamate receptor delta-2 subunit|glutamate receptor, ionotropic, delta 2 20210816 - 9606 2896 GRN - CLN11|GEP|GP88|PCDGF|PEPI|PGRN MIM:138945|HGNC:HGNC:4601|Ensembl:ENSG00000030582 17 17q21.31 granulin precursor protein-coding GRN granulin precursor O progranulin|PC cell-derived growth factor|acrogranin|epithelin|glycoprotein 88|glycoprotein of 88 Kda|granulin-epithelin|granulins|proepithelin 20211026 - 9606 2897 GRIK1 - EAA3|EEA3|GLR5|GLUR5|GluK1|gluR-5 MIM:138245|HGNC:HGNC:4579|Ensembl:ENSG00000171189 21 21q21.3 glutamate ionotropic receptor kainate type subunit 1 protein-coding GRIK1 glutamate ionotropic receptor kainate type subunit 1 O glutamate receptor ionotropic, kainate 1|GluK1(del_e2)|excitatory amino acid receptor 3|glutamate receptor 5 20211017 - 9606 2898 GRIK2 - EAA4|GLR6|GLUK6|GLUR6|GluK2|MRT6|NEDLAS MIM:138244|HGNC:HGNC:4580|Ensembl:ENSG00000164418 6 6q16.3 glutamate ionotropic receptor kainate type subunit 2 protein-coding GRIK2 glutamate ionotropic receptor kainate type subunit 2 O glutamate receptor ionotropic, kainate 2|GluK2(alt_5'UTR)|bA487F5.1|excitatory amino acid receptor 4|gluR-6|glutamate receptor 6|glutamate receptor form A|glutamate receptor form B|glutamate receptor form C|glutamate receptor form D|glutamate receptor form E|putative NMDtranscript(cassette_171nt) 20211106 - 9606 2899 GRIK3 - EAA5|GLR7|GLUR7|GluK3|GluR7a MIM:138243|HGNC:HGNC:4581|Ensembl:ENSG00000163873 1 1p34.3 glutamate ionotropic receptor kainate type subunit 3 protein-coding GRIK3 glutamate ionotropic receptor kainate type subunit 3 O glutamate receptor ionotropic, kainate 3|dJ1090M5.1 (glutamate receptor, ionotropic, kainate 3 (GLUR7))|excitatory amino acid receptor 5|gluR-7|glutamate receptor 7 20210620 - 9606 2900 GRIK4 - EAA1|GRIK|GluK4|GluK4-2|KA1 MIM:600282|HGNC:HGNC:4582|Ensembl:ENSG00000149403 11 11q23.3 glutamate ionotropic receptor kainate type subunit 4 protein-coding GRIK4 glutamate ionotropic receptor kainate type subunit 4 O glutamate receptor ionotropic, kainate 4|GluK4(alt_5'UTR)|excitatory amino acid receptor 1|glutamate receptor KA1|glutamate receptor, ionotropic, kainate 4|putative NMDtranscript(altAcc_e11) 20211016 - 9606 2901 GRIK5 - EAA2|GRIK2|GluK5|KA2 MIM:600283|HGNC:HGNC:4583|Ensembl:ENSG00000105737 19 19q13.2 glutamate ionotropic receptor kainate type subunit 5 protein-coding GRIK5 glutamate ionotropic receptor kainate type subunit 5 O glutamate receptor ionotropic, kainate 5|excitatory amino acid receptor 2|glutamate receptor KA2|putative NMDtranscript(altDon_e2)|putative NMDtranscript(del_e13-e15) 20210628 - 9606 2902 GRIN1 - GluN1|MRD8|NDHMSD|NDHMSR|NMD-R1|NMDA1|NMDAR1|NR1 MIM:138249|HGNC:HGNC:4584|Ensembl:ENSG00000176884 9 9q34.3 glutamate ionotropic receptor NMDA type subunit 1 protein-coding GRIN1 glutamate ionotropic receptor NMDA type subunit 1 O glutamate receptor ionotropic, NMDA 1|N-methyl-D-aspartate receptor channel, subunit zeta-1|N-methyl-D-aspartate receptor subunit NR1|glutamate [NMDA] receptor subunit zeta-1|glutamate receptor, ionotropic, N-methyl D-aspartate 1|putative NMDtranscript(altAcc_e2) 20211031 - 9606 2903 GRIN2A - EPND|FESD|GluN2A|LKS|NMDAR2A|NR2A MIM:138253|HGNC:HGNC:4585|Ensembl:ENSG00000183454 16 16p13.2 glutamate ionotropic receptor NMDA type subunit 2A protein-coding GRIN2A glutamate ionotropic receptor NMDA type subunit 2A O glutamate receptor ionotropic, NMDA 2A|N-methyl D-aspartate receptor subtype 2A|N-methyl-D-aspartate receptor channel, subunit epsilon-1|N-methyl-D-aspartate receptor subunit 2A|glutamate ionotropic receptor NMDA 2A|glutamate receptor, ionotropic, N-methyl D-aspartate 2A 20211017 - 9606 2904 GRIN2B - DEE27|EIEE27|GluN2B|MRD6|NMDAR2B|NR2B|NR3|hNR3 MIM:138252|HGNC:HGNC:4586|Ensembl:ENSG00000273079 12 12p13.1 glutamate ionotropic receptor NMDA type subunit 2B protein-coding GRIN2B glutamate ionotropic receptor NMDA type subunit 2B O glutamate receptor ionotropic, NMDA 2B|GluN2B(alt_5'UTR)|N-methyl D-aspartate receptor subtype 2B|N-methyl-D-aspartate receptor subunit 3|glutamate [NMDA] receptor subunit epsilon-2|glutamate receptor subunit epsilon-2|glutamate receptor, ionotropic, N-methyl D-aspartate 2B 20211017 - 9606 2905 GRIN2C - GluN2C|NMDAR2C|NR2C MIM:138254|HGNC:HGNC:4587|Ensembl:ENSG00000161509 17 17q25.1 glutamate ionotropic receptor NMDA type subunit 2C protein-coding GRIN2C glutamate ionotropic receptor NMDA type subunit 2C O glutamate receptor ionotropic, NMDA 2C|GluN2C(alt_5'UTR_77nt)|GluN2C(alt_5'UTR_87nt)|GluN2C(del_e2)|N-methyl D-aspartate receptor subtype 2C|N-methyl-D-aspartate receptor subunit 2C|glutamate [NMDA] receptor subunit epsilon-3|glutamate receptor, ionotropic, N-methyl D-aspartate 2C|putative NMDtranscript(altAcc_e11)|putative NMDtranscript(altDon_e4)|putative NMDtranscript(del_e4) 20211009 - 9606 2906 GRIN2D - DEE46|EB11|EIEE46|GluN2D|NMDAR2D|NR2D MIM:602717|HGNC:HGNC:4588|Ensembl:ENSG00000105464 19 19q13.33 glutamate ionotropic receptor NMDA type subunit 2D protein-coding GRIN2D glutamate ionotropic receptor NMDA type subunit 2D O glutamate receptor ionotropic, NMDA 2D|N-methyl D-aspartate receptor subtype 2D|N-methyl-d-aspartate receptor subunit 2D|estrogen receptor binding CpG island|glutamate [NMDA] receptor subunit epsilon-4|glutamate receptor, ionotropic, N-methyl D-aspartate 2D 20210611 - 9606 2907 GRINA - HNRGW|LFG1|NMDARA1|TMBIM3 MIM:138251|HGNC:HGNC:4589|Ensembl:ENSG00000178719 8 8q24.3 glutamate ionotropic receptor NMDA type subunit associated protein 1 protein-coding GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 O protein lifeguard 1|NMDA receptor glutamate-binding subunit|glutamate [NMDA] receptor-associated protein 1|glutamate receptor, NMDA subtype, glutamate-binding subunit|glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)|lifeguard 1|putative MAPK-activating protein PM02|transmembrane BAX inhibitor motif containing 3|transmembrane BAX inhibitor motif-containing protein 3 20210704 - 9606 2908 NR3C1 - GCCR|GCR|GCRST|GR|GRL MIM:138040|HGNC:HGNC:7978|Ensembl:ENSG00000113580 5 5q31.3 nuclear receptor subfamily 3 group C member 1 protein-coding NR3C1 nuclear receptor subfamily 3 group C member 1 O glucocorticoid receptor|glucocorticoid nuclear receptor variant 1|nuclear receptor subfamily 3 group C member 1 variant hGR-B(54)|nuclear receptor subfamily 3 group C member 1 variant hGR-B(77)|nuclear receptor subfamily 3 group C member 1 variant hGR-B(93)|nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 20211031 - 9606 2909 ARHGAP35 - GRF-1|GRLF1|P190-A|P190A|p190ARhoGAP|p190RhoGAP MIM:605277|HGNC:HGNC:4591|Ensembl:ENSG00000160007 19 19q13.32 Rho GTPase activating protein 35 protein-coding ARHGAP35 Rho GTPase activating protein 35 O rho GTPase-activating protein 35|glucocorticoid receptor DNA-binding factor 1|glucocorticoid receptor repression factor 1|rho GAP p190A 20211017 - 9606 2910 NR3C1P1 - GCR2|GCRL|GRLL1|NR3C1P MIM:138060|HGNC:HGNC:4592|Ensembl:ENSG00000276393 16 16q24.2 nuclear receptor subfamily 3 group C member 1 pseudogene 1 pseudo NR3C1P1 nuclear receptor subfamily 3 group C member 1 pseudogene 1 O glucocorticoid receptor-like 1|nuclear receptor subfamily 3, group C, member 1 pseudogene 20210611 - 9606 2911 GRM1 - GPRC1A|MGLU1|MGLUR1|PPP1R85|SCA44|SCAR13 MIM:604473|HGNC:HGNC:4593|Ensembl:ENSG00000152822 6 6q24.3 glutamate metabotropic receptor 1 protein-coding GRM1 glutamate metabotropic receptor 1 O metabotropic glutamate receptor 1|glutamate receptor, metabotropic 1|protein phosphatase 1, regulatory subunit 85 20211031 - 9606 2912 GRM2 - GLUR2|GPRC1B|MGLUR2|mGlu2 MIM:604099|HGNC:HGNC:4594|Ensembl:ENSG00000164082 3 3p21.2 glutamate metabotropic receptor 2 protein-coding GRM2 glutamate metabotropic receptor 2 O metabotropic glutamate receptor 2|glutamate receptor homolog|glutamate receptor, metabotropic 2 20211017 - 9606 2913 GRM3 - GLUR3|GPRC1C|MGLUR3|mGlu3 MIM:601115|HGNC:HGNC:4595|Ensembl:ENSG00000198822 7 7q21.11-q21.12 glutamate metabotropic receptor 3 protein-coding GRM3 glutamate metabotropic receptor 3 O metabotropic glutamate receptor 3|glutamate receptor, metabotropic 3 20210906 - 9606 2914 GRM4 - GPRC1D|MGLUR4|mGlu4 MIM:604100|HGNC:HGNC:4596|Ensembl:ENSG00000124493 6 6p21.31 glutamate metabotropic receptor 4 protein-coding GRM4 glutamate metabotropic receptor 4 O metabotropic glutamate receptor 4|glutamate receptor, metabotropic 4 20211003 - 9606 2915 GRM5 - GPRC1E|MGLUR5|PPP1R86|mGlu5 MIM:604102|HGNC:HGNC:4597|Ensembl:ENSG00000168959 11 11q14.2-q14.3 glutamate metabotropic receptor 5 protein-coding GRM5 glutamate metabotropic receptor 5 O metabotropic glutamate receptor 5|glutamate receptor, metabotropic 5|protein phosphatase 1, regulatory subunit 86 20210711 - 9606 2916 GRM6 - CSNB1B|GPRC1F|MGLUR6|mGlu6 MIM:604096|HGNC:HGNC:4598|Ensembl:ENSG00000113262 5 5q35.3 glutamate metabotropic receptor 6 protein-coding GRM6 glutamate metabotropic receptor 6 O metabotropic glutamate receptor 6|glutamate receptor, metabotropic 6 20211016 - 9606 2917 GRM7 - GLUR7|GPRC1G|MGLU7|MGLUR7|NEDSHBA|PPP1R87 MIM:604101|HGNC:HGNC:4599|Ensembl:ENSG00000196277 3 3p26.1 glutamate metabotropic receptor 7 protein-coding GRM7 glutamate metabotropic receptor 7 O metabotropic glutamate receptor 7|glutamate receptor, metabotropic 7|protein phosphatase 1, regulatory subunit 87 20211009 - 9606 2918 GRM8 - GLUR8|GPRC1H|MGLUR8|mGlu8 MIM:601116|HGNC:HGNC:4600|Ensembl:ENSG00000179603 7 7q31.33 glutamate metabotropic receptor 8 protein-coding GRM8 glutamate metabotropic receptor 8 O metabotropic glutamate receptor 8|glutamate receptor, metabotropic 8 20210822 - 9606 2919 CXCL1 - FSP|GRO1|GROa|MGSA|MGSA-a|NAP-3|SCYB1 MIM:155730|HGNC:HGNC:4602|Ensembl:ENSG00000163739 4 4q13.3 C-X-C motif chemokine ligand 1 protein-coding CXCL1 C-X-C motif chemokine ligand 1 O growth-regulated alpha protein|C-X-C motif chemokine 1|GRO-alpha(1-73)|GRO1 oncogene (melanoma growth stimulating activity, alpha)|GRO1 oncogene (melanoma growth-stimulating activity)|MGSA alpha|chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)|fibroblast secretory protein|melanoma growth stimulating activity, alpha|melanoma growth stimulatory activity alpha|neutrophil-activating protein 3 20210926 - 9606 2920 CXCL2 - CINC-2a|GRO2|GROb|MGSA-b|MIP-2a|MIP2|MIP2A|SCYB2 MIM:139110|HGNC:HGNC:4603|Ensembl:ENSG00000081041 4 4q13.3 C-X-C motif chemokine ligand 2 protein-coding CXCL2 C-X-C motif chemokine ligand 2 O C-X-C motif chemokine 2|GRO2 oncogene|MGSA beta|MIP2-alpha|chemokine (C-X-C motif) ligand 2|gro-beta|growth-regulated protein beta|macrophage inflammatory protein 2-alpha|melanoma growth stimulatory activity beta 20211026 - 9606 2921 CXCL3 - CINC-2b|GRO3|GROg|MIP-2b|MIP2B|SCYB3 MIM:139111|HGNC:HGNC:4604|Ensembl:ENSG00000163734 4 4q13.3 C-X-C motif chemokine ligand 3 protein-coding CXCL3 C-X-C motif chemokine ligand 3 O C-X-C motif chemokine 3|GRO-gamma|GRO-gamma(1-73)|GRO3 oncogene|MGSA gamma|MIP2-beta|chemokine (C-X-C motif) ligand 3|growth-regulated protein gamma|macrophage inflammatory protein 2-beta|melanoma growth stimulatory activity gamma 20211031 - 9606 2922 GRP - BN|GRP-10|preproGRP|proGRP MIM:137260|HGNC:HGNC:4605|Ensembl:ENSG00000134443 18 18q21.32 gastrin releasing peptide protein-coding GRP gastrin releasing peptide O gastrin-releasing peptide|bombesin|neuromedin C|pre-progastrin releasing peptide|prepro-GRP|testicular tissue protein Li 103 20210816 - 9606 2923 PDIA3 - ER60|ERp57|ERp60|ERp61|GRP57|GRP58|HEL-S-269|HEL-S-93n|HsT17083|P58|PI-PLC MIM:602046|HGNC:HGNC:4606|Ensembl:ENSG00000167004 15 15q15.3 protein disulfide isomerase family A member 3 protein-coding PDIA3 protein disulfide isomerase family A member 3 O protein disulfide-isomerase A3|58 kDa glucose-regulated protein|58 kDa microsomal protein|ER protein 57|ER protein 60|disulfide isomerase ER-60|endoplasmic reticulum P58|endoplasmic reticulum resident protein 57|endoplasmic reticulum resident protein 60|epididymis secretory protein Li 269|epididymis secretory sperm binding protein Li 93n|glucose regulated protein, 58kDa|phospholipase C-alpha|protein disulfide isomerase-associated 3 20211026 - 9606 2925 GRPR - BB2|BB2R|BRS2 MIM:305670|HGNC:HGNC:4609|Ensembl:ENSG00000126010 X Xp22.2 gastrin releasing peptide receptor protein-coding GRPR gastrin releasing peptide receptor O gastrin-releasing peptide receptor|GRP-R|GRP-preferring bombesin receptor|bombesin receptor 2 20210708 - 9606 2926 GRSF1 - - MIM:604851|HGNC:HGNC:4610|Ensembl:ENSG00000132463 4 4q13.3 G-rich RNA sequence binding factor 1 protein-coding GRSF1 G-rich RNA sequence binding factor 1 O G-rich sequence factor 1 20210905 - 9606 2928 GSC2 - GSCL MIM:601845|HGNC:HGNC:4613|Ensembl:ENSG00000063515 22 22q11.21 goosecoid homeobox 2 protein-coding GSC2 goosecoid homeobox 2 O homeobox protein goosecoid-2 20210611 - 9606 2931 GSK3A - - MIM:606784|HGNC:HGNC:4616|Ensembl:ENSG00000105723 19 19q13.2 glycogen synthase kinase 3 alpha protein-coding GSK3A glycogen synthase kinase 3 alpha O glycogen synthase kinase-3 alpha|GSK-3 alpha|serine/threonine-protein kinase GSK3A 20211028 - 9606 2932 GSK3B - - MIM:605004|HGNC:HGNC:4617|Ensembl:ENSG00000082701 3 3q13.33 glycogen synthase kinase 3 beta protein-coding GSK3B glycogen synthase kinase 3 beta O glycogen synthase kinase-3 beta|GSK-3 beta|serine/threonine-protein kinase GSK3B 20211028 - 9606 2933 GSM1 - GSP MIM:190100 9 9q13-q21 geniospasm 1 unknown - - - - 20191002 - 9606 2934 GSN - ADF|AGEL MIM:137350|HGNC:HGNC:4620|Ensembl:ENSG00000148180 9 9q33.2 gelsolin protein-coding GSN gelsolin O gelsolin|actin-depolymerizing factor|brevin|epididymis secretory sperm binding protein 20211017 - 9606 2935 GSPT1 - 551G9.2|ETF3A|GST1|eRF3a MIM:139259|HGNC:HGNC:4621|Ensembl:ENSG00000103342 16 16p13.13 G1 to S phase transition 1 protein-coding GSPT1 G1 to S phase transition 1 O eukaryotic peptide chain release factor GTP-binding subunit ERF3A|G1 to S phase transition protein 1 homolog|eukaryotic peptide chain release factor subunit 3a|eukaryotic release factor 3a 20210726 - 9606 2936 GSR - GR|GSRD|HEL-75|HEL-S-122m MIM:138300|HGNC:HGNC:4623|Ensembl:ENSG00000104687 8 8p12 glutathione-disulfide reductase protein-coding GSR glutathione-disulfide reductase O glutathione reductase, mitochondrial|GRase|epididymis luminal protein 75|epididymis secretory sperm binding protein Li 122m|glutathione S-reductase 20210708 - 9606 2937 GSS - GSHS|HEL-S-64p|HEL-S-88n MIM:601002|HGNC:HGNC:4624|Ensembl:ENSG00000100983 20 20q11.22 glutathione synthetase protein-coding GSS glutathione synthetase O glutathione synthetase|GSH synthetase|GSH-S|glutathione synthase 20210708 - 9606 2938 GSTA1 - GST-epsilon|GST2|GSTA1-1|GTH1 MIM:138359|HGNC:HGNC:4626|Ensembl:ENSG00000243955 6 6p12.2 glutathione S-transferase alpha 1 protein-coding GSTA1 glutathione S-transferase alpha 1 O glutathione S-transferase A1|13-hydroperoxyoctadecadienoate peroxidase|GST HA subunit 1|GST class-alpha member 1|S-(hydroxyalkyl)glutathione lyase A1|androst-5-ene-3,17-dione isomerase|glutathione S-alkyltransferase A1|glutathione S-aryltransferase A1|glutathione S-transferase 2|glutathione S-transferase Ha subunit 1|testicular tissue protein Li 80 20210822 - 9606 2939 GSTA2 - GST2|GSTA2-2|GTA2|GTH2 MIM:138360|HGNC:HGNC:4627|Ensembl:ENSG00000244067 6 6p12.2 glutathione S-transferase alpha 2 protein-coding GSTA2 glutathione S-transferase alpha 2 O glutathione S-transferase A2|GST HA subunit 2|GST class-alpha member 2|GST-gamma|S-(hydroxyalkyl)glutathione lyase A2|glutathione S-alkyltransferase A2|glutathione S-aralkyltransferase A2|glutathione S-aryltransferase A2|liver GST2|testis tissue sperm-binding protein Li 59n 20210708 - 9606 2940 GSTA3 - GSTA3-3|GTA3 MIM:605449|HGNC:HGNC:4628|Ensembl:ENSG00000174156 6 6p12.2 glutathione S-transferase alpha 3 protein-coding GSTA3 glutathione S-transferase alpha 3 O glutathione S-transferase A3|GST class-alpha member 3|S-(hydroxyalkyl)glutathione lyase A3|glutathione S-alkyltransferase A3|glutathione S-aralkyltransferase A3|glutathione S-aryltransferase A3|glutathione S-transferase A3-3 20210731 - 9606 2941 GSTA4 - GSTA4-4|GTA4 MIM:605450|HGNC:HGNC:4629|Ensembl:ENSG00000170899 6 6p12.2 glutathione S-transferase alpha 4 protein-coding GSTA4 glutathione S-transferase alpha 4 O glutathione S-transferase A4|GST class-alpha member 4|S-(hydroxyalkyl)glutathione lyase A4|glutathione S-alkyltransferase A4|glutathione S-aralkyltransferase A4|glutathione S-aryltransferase A4|glutathione S-transferase A4-4|glutathione transferase A4-4 20210708 - 9606 2942 GSTA6P - GSTAP1 HGNC:HGNC:4630|Ensembl:ENSG00000223622 6 6p12.2 glutathione S-transferase alpha 6, pseudogene pseudo GSTA6P glutathione S-transferase alpha 6, pseudogene O glutathione S-transferase A pseudogene 1|glutathione S-transferase alpha pseudogene 1 20210611 - 9606 2944 GSTM1 - GST1|GSTM1-1|GSTM1a-1a|GSTM1b-1b|GTH4|GTM1|H-B|MU|MU-1 MIM:138350|HGNC:HGNC:4632|Ensembl:ENSG00000134184 1 1p13.3 glutathione S-transferase mu 1 protein-coding GSTM1 glutathione S-transferase mu 1 O glutathione S-transferase Mu 1|GST HB subunit 4|GST class-mu 1|HB subunit 4|S-(hydroxyalkyl)glutathione lyase|glutathione S-alkyltransferase|glutathione S-aralkyltransferase|glutathione S-aryltransferase|glutathione S-transferase M1 20211017 - 9606 2946 GSTM2 - GST4|GSTM|GSTM2-2|GTHMUS MIM:138380|HGNC:HGNC:4634|Ensembl:ENSG00000213366 1 1p13.3 glutathione S-transferase mu 2 protein-coding GSTM2 glutathione S-transferase mu 2 O glutathione S-transferase Mu 2|GST class-mu 2|GST, muscle|S-(hydroxyalkyl)glutathione lyase M2|epididymis secretory sperm binding protein|glutathione S-alkyltransferase M2|glutathione S-aralkyltransferase M2|glutathione S-aryltransferase M2|glutathione S-transferase 4|glutathione S-transferase M1|glutathione S-transferase M2 (muscle)|glutathione S-transferase mu 2 (muscle) 20210708 - 9606 2947 GSTM3 - GST5|GSTB|GSTM3-3|GTM3 MIM:138390|HGNC:HGNC:4635|Ensembl:ENSG00000134202 1 1p13.3 glutathione S-transferase mu 3 protein-coding GSTM3 glutathione S-transferase mu 3 O glutathione S-transferase Mu 3|GST class-mu 3|S-(hydroxyalkyl)glutathione lyase M3|brain GST|brain type mu-glutathione S-transferase|epididymis secretory sperm binding protein|glutathione S-alkyltransferase M3|glutathione S-aralkyltransferase M3|glutathione S-aryltransferase M3|glutathione S-transferase M3 (brain)|glutathione S-transferase mu 3 (brain)|glutathione S-transferase, Mu-3|hGSTM3-3 20210905 - 9606 2948 GSTM4 - GSTM4-4|GTM4 MIM:138333|HGNC:HGNC:4636|Ensembl:ENSG00000168765 1 1p13.3 glutathione S-transferase mu 4 protein-coding GSTM4 glutathione S-transferase mu 4 O glutathione S-transferase Mu 4|GST class-mu 4|GST-Mu2|GTS-Mu2|S-(hydroxyalkyl)glutathione lyase M4|glutathione S-alkyltransferase M4|glutathione S-aralkyltransferase M4|glutathione S-aryltransferase M4|glutathione S-transferase M4|leukotriene C4 synthase GSTM4|testis tissue sperm-binding protein Li 60n 20210708 - 9606 2949 GSTM5 - GSTM5-5|GTM5 MIM:138385|HGNC:HGNC:4637|Ensembl:ENSG00000134201 1 1p13.3 glutathione S-transferase mu 5 protein-coding GSTM5 glutathione S-transferase mu 5 O glutathione S-transferase Mu 5|GST class-mu 5|S-(hydroxyalkyl)glutathione lyase M5|epididymis secretory sperm binding protein|glutathione S-alkyltransferase M5|glutathione S-aralkyltransferase M5|glutathione S-aryltransferase M5|glutathione S-transferase M5 20210708 - 9606 2950 GSTP1 - DFN7|FAEES3|GST3|GSTP|HEL-S-22|PI MIM:134660|HGNC:HGNC:4638|Ensembl:ENSG00000084207 11 11q13.2 glutathione S-transferase pi 1 protein-coding GSTP1 glutathione S-transferase pi 1 O glutathione S-transferase P|GST class-pi|GSTP1-1|deafness, X-linked 7|epididymis secretory protein Li 22|fatty acid ethyl ester synthase III 20211026 - 9606 2951 GSTP1P1 - GST3L|GSTP1P|GSTPL|GSTPP|Lnc712 HGNC:HGNC:4640 12 12q13.2 glutathione S-transferase pi 1 pseudogene 1 pseudo GSTP1P1 glutathione S-transferase pi 1 pseudogene 1 O glutathione S-transferase pi pseudogene 20210611 - 9606 2952 GSTT1 - - MIM:600436|HGNC:HGNC:4641 22 22q11.23 glutathione S-transferase theta 1 protein-coding GSTT1 glutathione S-transferase theta 1 O glutathione S-transferase theta-1|GST class-theta-1|glutathione transferase T1-1 20211017 - 9606 2953 GSTT2 - - MIM:600437|HGNC:HGNC:4642|Ensembl:ENSG00000099984 22 22q11.23 glutathione S-transferase theta 2 (gene/pseudogene) protein-coding GSTT2 glutathione S-transferase theta 2 (gene/pseudogene) O glutathione S-transferase theta-2|GST class-theta-2 20210611 - 9606 2954 GSTZ1 - GSTZ1-1|MAAI|MAAID|MAI MIM:603758|HGNC:HGNC:4643|Ensembl:ENSG00000100577 14 14q24.3 glutathione S-transferase zeta 1 protein-coding GSTZ1 glutathione S-transferase zeta 1 O maleylacetoacetate isomerase|S-(hydroxyalkyl)glutathione lyase|glutathione S-alkyltransferase|glutathione S-aralkyltransferase|glutathione S-aryltransferase|glutathione transferase zeta 1|maleylacetone isomerase 20211017 - 9606 2956 MSH6 - GTBP|GTMBP|HNPCC5|HSAP|MMRCS3|p160 MIM:600678|HGNC:HGNC:7329|Ensembl:ENSG00000116062 2 2p16.3 mutS homolog 6 protein-coding MSH6 mutS homolog 6 O DNA mismatch repair protein Msh6|G/T mismatch-binding protein|mutS protein homolog 6|mutS-alpha 160 kDa subunit|sperm-associated protein 20211026 - 9606 2957 GTF2A1 - TF2A1|TFIIA|TFIIA-42|TFIIAL MIM:600520|HGNC:HGNC:4646|Ensembl:ENSG00000165417 14 14q31.1 general transcription factor IIA subunit 1 protein-coding GTF2A1 general transcription factor IIA subunit 1 O transcription initiation factor IIA subunit 1|TFIIA alpha/beta subunits|general transcription factor IIA 1|general transcription factor IIA, 1, 19/37kDa|glucose regulated protein, 58kD pseudogene|transcription initiation factor TFIIA 42 kDa subunit 20210808 - 9606 2958 GTF2A2 - HsT18745|T18745|TF2A2|TFIIA|TFIIA-12|TFIIA-gamma|TFIIAS MIM:600519|HGNC:HGNC:4647|Ensembl:ENSG00000140307 15 15q22.2 general transcription factor IIA subunit 2 protein-coding GTF2A2 general transcription factor IIA subunit 2 O transcription initiation factor IIA subunit 2|TFIIA gamma subunit|TFIIA p12 subunit|general transcription factor IIA 2|general transcription factor IIA, 2, 12kDa|transcription initiation factor IIA gamma chain 20210708 - 9606 2959 GTF2B - TF2B|TFIIB MIM:189963|HGNC:HGNC:4648|Ensembl:ENSG00000137947 1 1p22.2 general transcription factor IIB protein-coding GTF2B general transcription factor IIB O transcription initiation factor IIB|RNA polymerase II transcription factor IIB|S300-II|general transcription factor TFIIB 20210808 - 9606 2960 GTF2E1 - FE|TF2E1|TFIIE-A MIM:189962|HGNC:HGNC:4650|Ensembl:ENSG00000153767 3 3q13.33 general transcription factor IIE subunit 1 protein-coding GTF2E1 general transcription factor IIE subunit 1 O general transcription factor IIE subunit 1|TFIIE alpha subunit|TFIIE-alpha|general transcription factor IIE 56 kDa subunit|general transcription factor IIE, polypeptide 1, alpha 56kDa|transcription initiation factor IIE subunit alpha 20211003 - 9606 2961 GTF2E2 - FE|TF2E2|TFIIE-B|TTD6 MIM:189964|HGNC:HGNC:4651|Ensembl:ENSG00000197265 8 8p12 general transcription factor IIE subunit 2 protein-coding GTF2E2 general transcription factor IIE subunit 2 O transcription initiation factor IIE subunit beta|TFIIE beta subunit|TFIIE-beta|general transcription factor IIE, polypeptide 2, beta 34kDa 20210807 - 9606 2962 GTF2F1 - BTF4|RAP74|TF2F1|TFIIF MIM:189968|HGNC:HGNC:4652|Ensembl:ENSG00000125651 19 19p13.3 general transcription factor IIF subunit 1 protein-coding GTF2F1 general transcription factor IIF subunit 1 O general transcription factor IIF subunit 1|TFIIF-alpha|general transcription factor IIF 74 kDa subunit|general transcription factor IIF, polypeptide 1, 74kDa|transcription initiation factor IIF subunit alpha|transcription initiation factor RAP74 20210905 - 9606 2963 GTF2F2 - BTF4|RAP30|TF2F2|TFIIF MIM:189969|HGNC:HGNC:4653|Ensembl:ENSG00000188342 13 13q14.12-q14.13 general transcription factor IIF subunit 2 protein-coding GTF2F2 general transcription factor IIF subunit 2 O general transcription factor IIF subunit 2|ATP-dependent helicase GTF2F2|TFIIF-beta|general transcription factor IIF 30 kDa subunit|general transcription factor IIF, polypeptide 2, 30kDa|transcription initiation factor IIF subunit beta|transcription initiation factor RAP30 20210708 - 9606 2964 GTF2F2P1 - GTF2F2L|TFIIF HGNC:HGNC:4654 4 4q31.23 general transcription factor IIF subunit 2 pseudogene 1 pseudo GTF2F2P1 general transcription factor IIF subunit 2 pseudogene 1 O general transcription factor IIF, polypeptide 2 pseudogene 1|general transcription factor IIF, polypeptide 2, 30kDa pseudogene 20210611 - 9606 2965 GTF2H1 - BTF2|P62|TFB1|TFIIH MIM:189972|HGNC:HGNC:4655|Ensembl:ENSG00000110768 11 11p15.1 general transcription factor IIH subunit 1 protein-coding GTF2H1 general transcription factor IIH subunit 1 O general transcription factor IIH subunit 1|BTF2 p62|TFIIH basal transcription factor complex p62 subunit|basic transcription factor 2 62 kDa subunit|epididymis secretory sperm binding protein|general transcription factor IIH polypeptide 1|general transcription factor IIH, polypeptide 1, 62kDa 20210905 - 9606 2966 GTF2H2 - BTF2|BTF2 p44|BTF2P44|T-BTF2P44|TFIIH|p44 MIM:601748|HGNC:HGNC:4656|Ensembl:ENSG00000145736 5 5q13.2 general transcription factor IIH subunit 2 protein-coding GTF2H2 general transcription factor IIH subunit 2 O general transcription factor IIH subunit 2|TFIIH basal transcription factor complex p44 subunit|basic transcription factor 2 44 kDa subunit|general transcription factor IIH polypeptide 2|general transcription factor IIH, polypeptide 2, 44kD subunit|general transcription factor IIH, polypeptide 2, 44kDa 20211016 - 9606 2967 GTF2H3 - BTF2|P34|TFB4|TFIIH MIM:601750|HGNC:HGNC:4657|Ensembl:ENSG00000111358 12 12q24.31 general transcription factor IIH subunit 3 protein-coding GTF2H3 general transcription factor IIH subunit 3 O general transcription factor IIH subunit 3|TFIIH basal transcription factor complex p34 subunit|basic transcription factor 2 34 kDa subunit|general transcription factor IIH, polypeptide 3, 34kDa 20210905 - 9606 2968 GTF2H4 - P52|TFB2|TFIIH MIM:601760|HGNC:HGNC:4658|Ensembl:ENSG00000213780 6 6p21.33 general transcription factor IIH subunit 4 protein-coding GTF2H4 general transcription factor IIH subunit 4 O general transcription factor IIH subunit 4|BTF2 p52|TFIIH basal transcription factor complex p52 subunit|basic transcription factor 2 52 kDa subunit|general transcription factor IIH polypeptide 4|general transcription factor IIH, polypeptide 4, 52kDa 20210905 - 9606 2969 GTF2I - BAP135|BTKAP1|DIWS|GTFII-I|IB291|SPIN|TFII-I|WBS|WBSCR6 MIM:601679|HGNC:HGNC:4659|Ensembl:ENSG00000263001 7 7q11.23 general transcription factor IIi protein-coding GTF2I general transcription factor IIi O general transcription factor II-I|BTK-associated protein, 135kD|Bruton tyrosine kinase-associated protein 135|SRF-Phox1-interacting protein|Williams-Beuren syndrome chromosome region 6 20211026 - 9606 2970 GTF2IP1 - WBSCR7 HGNC:HGNC:4660|Ensembl:ENSG00000277053 7 7q11.23 general transcription factor IIi pseudogene 1 pseudo GTF2IP1 general transcription factor IIi pseudogene 1 O Williams-Beuren syndrome chromosome region 7 20210611 - 9606 2971 GTF3A - AP2|TFIIIA MIM:600860|HGNC:HGNC:4662|Ensembl:ENSG00000122034 13 13q12.2 general transcription factor IIIA protein-coding GTF3A general transcription factor IIIA O transcription factor IIIA 20210808 - 9606 2972 BRF1 - BRF|BRF-1|CFDS|GTF3B|HEL-S-76p|TAF3B2|TAF3C|TAFIII90|TF3B90|TFIIIB90|hBRF MIM:604902|HGNC:HGNC:11551|Ensembl:ENSG00000185024 14 14q32.33 BRF1 RNA polymerase III transcription initiation factor subunit protein-coding BRF1 BRF1 RNA polymerase III transcription initiation factor subunit O transcription factor IIIB 90 kDa subunit|B - related factor 1|BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB|BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit|TATA box binding protein (TBP)-associated factor 3C|TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2|TBP - associated factor, RNA polymerase III, 90kD|epididymis secretory sperm binding protein Li 76p|general transcription factor IIIB, 90kD subunit 20210816 - 9606 2973 GTS - - MIM:137580 11 11q23 Gilles de la Tourette syndrome unknown - - - - 20191002 - 9606 2974 GUCY1B2 - GC-SB2 MIM:603695|HGNC:HGNC:4686|Ensembl:ENSG00000123201 13 13q14.3 guanylate cyclase 1 soluble subunit beta 2 (pseudogene) pseudo GUCY1B2 guanylate cyclase 1 soluble subunit beta 2 (pseudogene) O guanylate cyclase 1 solube subunit beta 2 (pseudogene)|guanylate cyclase 1, soluble, beta 2 (pseudogene) 20210611 - 9606 2975 GTF3C1 - TFIIIC|TFIIIC220|TFIIICalpha MIM:603246|HGNC:HGNC:4664|Ensembl:ENSG00000077235 16 16p12.1 general transcription factor IIIC subunit 1 protein-coding GTF3C1 general transcription factor IIIC subunit 1 O general transcription factor 3C polypeptide 1|TF3C-alpha|TFIIIC 220 kDa subunit|TFIIIC box B-binding subunit|general transcription factor IIIC, polypeptide 1 (alpha subunit)|general transcription factor IIIC, polypeptide 1, alpha 220kDa|transcription factor IIIC 220 kDa subunit|transcription factor IIIC subunit alpha 20210905 - 9606 2976 GTF3C2 - TF3C-beta|TFIIIC-BETA|TFIIIC110 MIM:604883|HGNC:HGNC:4665|Ensembl:ENSG00000115207 2 2p23.3 general transcription factor IIIC subunit 2 protein-coding GTF3C2 general transcription factor IIIC subunit 2 O general transcription factor 3C polypeptide 2|TFIIIC 110 kDa subunit|general transcription factor IIIC, polypeptide 2, beta 110kDa|transcription factor IIIC 110 kDa subunit|transcription factor IIIC subunit beta 20211009 - 9606 2977 GUCY1A2 - GC-SA2|GUC1A2 MIM:601244|HGNC:HGNC:4684|Ensembl:ENSG00000152402 11 11q22.3 guanylate cyclase 1 soluble subunit alpha 2 protein-coding GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 O guanylate cyclase soluble subunit alpha-2|GCS-alpha-2|guanylate cyclase 1, soluble, alpha 2 20210905 - 9606 2978 GUCA1A - C6orf131|COD3|CORD14|GCAP|GCAP1|GUCA|GUCA1 MIM:600364|HGNC:HGNC:4678|Ensembl:ENSG00000048545 6 6p21.1 guanylate cyclase activator 1A protein-coding GUCA1A guanylate cyclase activator 1A O guanylyl cyclase-activating protein 1|cone dystrophy 3|guanylate cyclase-activating protein, photoreceptor 1|guanylin 1, retina 20211031 - 9606 2979 GUCA1B - GCAP 2|GCAP2|GUCA2|RP48 MIM:602275|HGNC:HGNC:4679|Ensembl:ENSG00000112599 6 6p21.1 guanylate cyclase activator 1B protein-coding GUCA1B guanylate cyclase activator 1B O guanylyl cyclase-activating protein 2|guanylate cyclase activator 1B (retina)|guanylate cyclase-activating protein, photoreceptor 2 20211017 - 9606 2980 GUCA2A - GCAP-I|GUCA2|STARA MIM:139392|HGNC:HGNC:4682|Ensembl:ENSG00000197273 1 1p34.2 guanylate cyclase activator 2A protein-coding GUCA2A guanylate cyclase activator 2A O guanylin|guanylate cyclase activator 2A (guanylin 2, intestinal, heat-stable)|guanylate cyclase-activating protein 1|guanylate cyclase-activating protein I|prepro-guanylin 20210708 - 9606 2981 GUCA2B - GCAP-II|UGN MIM:601271|HGNC:HGNC:4683|Ensembl:ENSG00000044012 1 1p34.2 guanylate cyclase activator 2B protein-coding GUCA2B guanylate cyclase activator 2B O guanylate cyclase activator 2B|prepro-uroguanylin|uroguanylin 20210708 - 9606 2982 GUCY1A1 - GC-S-alpha-1|GC-SA3|GCS-alpha-3|GUC1A3|GUCA3|GUCSA3|GUCY1A3|MYMY6 MIM:139396|HGNC:HGNC:4685|Ensembl:ENSG00000164116 4 4q32.1 guanylate cyclase 1 soluble subunit alpha 1 protein-coding GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 O guanylate cyclase soluble subunit alpha-1|guanylate cyclase 1, soluble, alpha 3|soluble guanylate cyclase large subunit 20211017 - 9606 2983 GUCY1B1 - GC-S-beta-1|GC-SB3|GUC1B3|GUCB3|GUCSB3|GUCY1B3 MIM:139397|HGNC:HGNC:4687|Ensembl:ENSG00000061918 4 4q32.1 guanylate cyclase 1 soluble subunit beta 1 protein-coding GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 O guanylate cyclase soluble subunit beta-1|GCS-beta-1|GCS-beta-3|guanylate cyclase 1, soluble, beta 3|guanylate cyclase soluble subunit beta-3|soluble guanylate cyclase small subunit 20210611 - 9606 2984 GUCY2C - DIAR6|GC-C|GUC2C|MECIL|MUCIL|STAR MIM:601330|HGNC:HGNC:4688|Ensembl:ENSG00000070019 12 12p12.3 guanylate cyclase 2C protein-coding GUCY2C guanylate cyclase 2C O heat-stable enterotoxin receptor|STA receptor|guanylyl cyclase C|intestinal guanylate cyclase 20211026 - 9606 2986 GUCY2F - CYGF|GC-F|GUC2DL|GUC2F|RETGC-2|ROS-GC2 MIM:300041|HGNC:HGNC:4691|Ensembl:ENSG00000101890 X Xq22.3-q23 guanylate cyclase 2F, retinal protein-coding GUCY2F guanylate cyclase 2F, retinal O retinal guanylyl cyclase 2|guanylate cyclase 2D-like, membrane (retina-specific)|guanylate cyclase F|rod outer segment membrane guanylate cyclase 2 20211016 - 9606 2987 GUK1 - GMK MIM:139270|HGNC:HGNC:4693|Ensembl:ENSG00000143774 1 1q42.13 guanylate kinase 1 protein-coding GUK1 guanylate kinase 1 O guanylate kinase|ATP:GMP phosphotransferase|GMP kinase 20210611 - 9606 2988 GUK2 - - MIM:139280|HGNC:HGNC:4694 1 1q32.1-q42 guanylate kinase 2 protein-coding GUK2 guanylate kinase 2 O guanylate kinase 2 20190324 - 9606 2989 GULOP - GULO|SCURVY MIM:240400|HGNC:HGNC:4695 8 8p21.1 gulonolactone (L-) oxidase, pseudogene pseudo GULOP gulonolactone (L-) oxidase, pseudogene O - 20210611 - 9606 2990 GUSB - BG|MPS7 MIM:611499|HGNC:HGNC:4696|Ensembl:ENSG00000169919 7 7q11.21 glucuronidase beta protein-coding GUSB glucuronidase beta O beta-glucuronidase|beta-D-glucuronidase|beta-G1 20210708 - 9606 2992 GYG1 - GSD15|GYG MIM:603942|HGNC:HGNC:4699|Ensembl:ENSG00000163754 3 3q24 glycogenin 1 protein-coding GYG1 glycogenin 1 O glycogenin-1|GN-1|glycogenin glucosyltransferase 20210906 - 9606 2993 GYPA - CD235a|GPA|GPErik|GPSAT|HGpMiV|HGpMiXI|HGpSta(C)|MN|MNS|PAS-2 MIM:617922|HGNC:HGNC:4702|Ensembl:ENSG00000170180 4 4q31.21 glycophorin A (MNS blood group) protein-coding GYPA glycophorin A (MNS blood group) O glycophorin-A|MN sialoglycoprotein|Mi.V glycoprotein (24 AA)|erythroid-lineage-specific membrane sialoglycoprotein|glycophorin A (MN blood group)|glycophorin A, GPA|glycophorin Erik|glycophorin MiI|glycophorin MiV|glycophorin SAT|glycophorin Sta type C|recombinant glycophorin A-B Miltenberger-DR|sialoglycoprotein alpha 20210708 - 9606 2994 GYPB - CD235b|GPB|GYP|GYPA|MNS|PAS-3|SS MIM:617923|HGNC:HGNC:4703|Ensembl:ENSG00000250361 4 4q31.21 glycophorin B (MNS blood group) protein-coding GYPB glycophorin B (MNS blood group) O glycophorin-B|GYPB-A fusion|GYPB-A-B fusion|GYPB/GYPA fusion|SS-active sialoglycoprotein|Ss blood group|blood group system MNSs, Mur-like|blood group system MNSs, St(a) type E|blood group system MNSs, St(a) type F|glycophorin A|glycophorin B blood group antigen|glycophorin B, blood group system Ss, S, Mit+|glycophorin B/glycophorin A fusion protein|glycophorin Hop|hybrid glycophorin Kip|sialoglycoprotein delta 20211017 - 9606 2995 GYPC - CD236|CD236R|GE|GPC|GPD|GYPD|PAS-2|PAS-2' MIM:110750|HGNC:HGNC:4704|Ensembl:ENSG00000136732 2 2q14.3 glycophorin C (Gerbich blood group) protein-coding GYPC glycophorin C (Gerbich blood group) O glycophorin-C|Gerbich blood group antigen|glycoconnectin|glycophorin-D|glycoprotein beta|sialoglycoprotein D 20210708 - 9606 2996 GYPE - GPE|GYPA|MNS|MiIX MIM:138590|HGNC:HGNC:4705|Ensembl:ENSG00000197465 4 4q31.21 glycophorin E (MNS blood group) protein-coding GYPE glycophorin E (MNS blood group) O glycophorin-E|glycophorin A 20210611 - 9606 2997 GYS1 - GSY|GYS MIM:138570|HGNC:HGNC:4706|Ensembl:ENSG00000104812 19 19q13.33 glycogen synthase 1 protein-coding GYS1 glycogen synthase 1 O glycogen [starch] synthase, muscle|glycogen synthase 1 (muscle) 20211003 - 9606 2998 GYS2 - - MIM:138571|HGNC:HGNC:4707|Ensembl:ENSG00000111713 12 12p12.1 glycogen synthase 2 protein-coding GYS2 glycogen synthase 2 O glycogen [starch] synthase, liver|glycogen synthase 2 (liver) 20210711 - 9606 2999 GZMH - CCP-X|CGL-2|CSP-C|CTLA1|CTSGL2 MIM:116831|HGNC:HGNC:4710|Ensembl:ENSG00000100450 14 14q12 granzyme H protein-coding GZMH granzyme H O granzyme H|cathepsin G-like 2, protein h-CCPX|cytotoxic T-lymphocyte proteinase|cytotoxic T-lymphocyte-associated serine esterase 1|cytotoxin serine protease-C 20210708 - 9606 3000 GUCY2D - CACD1|CG-E|CORD5|CORD6|CSNB1I|CYGD|GUC1A4|GUC2D|LCA|LCA1|RCD2|RETGC-1|ROS-GC1|ROSGC|retGC MIM:600179|HGNC:HGNC:4689|Ensembl:ENSG00000132518 17 17p13.1 guanylate cyclase 2D, retinal protein-coding GUCY2D guanylate cyclase 2D, retinal O retinal guanylyl cyclase 1|ROS-GC|cone rod dystrophy 6|guanylate cyclase 2D, membrane (retina-specific)|retinal guanylate cyclase 1|rod outer segment membrane guanylate cyclase 20211003 - 9606 3001 GZMA - CTLA3|HFSP MIM:140050|HGNC:HGNC:4708|Ensembl:ENSG00000145649 5 5q11.2 granzyme A protein-coding GZMA granzyme A O granzyme A|CTL tryptase|Cytotoxic T-lymphocyte-associated serine esterase-3|Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)|HF|Hanukah factor serine protease)|cytotoxic T-lymphocyte proteinase 1|fragmentin-1|granzyme 1|granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)|h factor 20211026 - 9606 3002 GZMB - C11|CCPI|CGL-1|CGL1|CSP-B|CSPB|CTLA1|CTSGL1|HLP|SECT MIM:123910|HGNC:HGNC:4709|Ensembl:ENSG00000100453 14 14q12 granzyme B protein-coding GZMB granzyme B O granzyme B|T-cell serine protease 1-3E|cathepsin G-like 1|cytotoxic T-lymphocyte proteinase 2|cytotoxic serine protease B|fragmentin 2|granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)|human lymphocyte protein 20211026 - 9606 3003 GZMK - TRYP2 MIM:600784|HGNC:HGNC:4711|Ensembl:ENSG00000113088 5 5q11.2 granzyme K protein-coding GZMK granzyme K O granzyme K|NK-Tryp-2|NK-tryptase-2|fragmentin-3|granzyme 3|granzyme K (granzyme 3; tryptase II)|granzyme K (serine protease, granzyme 3; tryptase II)|tryptase II 20210611 - 9606 3004 GZMM - LMET1|MET1 MIM:600311|HGNC:HGNC:4712|Ensembl:ENSG00000197540 19 19p13.3 granzyme M protein-coding GZMM granzyme M O granzyme M|HU-Met-1|Met-1 serine protease|lymphocyte met-ase 1|met-ase|natural killer cell granular protease 20211026 - 9606 3005 H1-0 - H1.0|H10|H1F0|H1FV MIM:142708|HGNC:HGNC:4714|Ensembl:ENSG00000189060 22 22q13.1 H1.0 linker histone protein-coding H1-0 H1.0 linker histone O histone H1.0|H1 histone family member 0|H1.0, H1(0), H1-0|histone H1'|histone H1(0) 20211028 - 9606 3006 H1-2 - H1.2|H1C|H1F2|H1s-1|HIST1H1C MIM:142710|HGNC:HGNC:4716|Ensembl:ENSG00000187837 6 6p22.2 H1.2 linker histone, cluster member protein-coding H1-2 H1.2 linker histone, cluster member O histone H1.2|H1 histone family, member 2|histone 1, H1c|histone H1c|histone H1d|histone H1s-1|histone cluster 1 H1 family member c|histone cluster 1, H1c 20210905 - 9606 3007 H1-3 - H1.3|H1D|H1F3|H1s-2|HIST1H1D MIM:142210|HGNC:HGNC:4717|Ensembl:ENSG00000124575 6 6p22.2 H1.3 linker histone, cluster member protein-coding H1-3 H1.3 linker histone, cluster member O histone H1.3|H1 histone family, member 3|histone 1, H1d|histone H1c|histone H1s-2|histone cluster 1 H1 family member d|histone cluster 1, H1d 20210905 - 9606 3008 H1-4 - H1.4|H1E|H1F4|H1s-4|HIST1H1E|RMNS|dJ221C16.5 MIM:142220|HGNC:HGNC:4718|Ensembl:ENSG00000168298 6 6p22.2 H1.4 linker histone, cluster member protein-coding H1-4 H1.4 linker histone, cluster member O histone H1.4|H1 histone family, member 4|histone 1, H1e|histone H1b|histone H1s-4|histone cluster 1 H1 family member e|histone cluster 1, H1e 20210918 - 9606 3009 H1-5 - H1|H1.5|H1B|H1F5|H1s-3|HIST1H1B MIM:142711|HGNC:HGNC:4719|Ensembl:ENSG00000184357 6 6p22.1 H1.5 linker histone, cluster member protein-coding H1-5 H1.5 linker histone, cluster member O histone H1.5|H1 histone family, member 5|histone 1, H1b|histone H1a|histone H1b|histone H1s-3|histone cluster 1 H1 family member b|histone cluster 1, H1b 20210905 - 9606 3010 H1-6 - H1.6|H1FT|H1t|HIST1H1T|dJ221C16.2 MIM:142712|HGNC:HGNC:4720|Ensembl:ENSG00000187475 6 6p22.2 H1.6 linker histone, cluster member protein-coding H1-6 H1.6 linker histone, cluster member O histone H1t|H1 histone family, member T (testis-specific)|histone 1, H1t|histone cluster 1 H1 family member t|histone cluster 1, H1t|testicular H1 histone 20210905 - 9606 3012 H2AC8 - H2A.1|H2A.2|H2A/a|H2AC4|H2AFA|HIST1H2AE MIM:602786|HGNC:HGNC:4724|Ensembl:ENSG00000277075 6 6p22.2 H2A clustered histone 8 protein-coding H2AC8 H2A clustered histone 8 O histone H2A type 1-B/E|H2A histone family, member A|histone 1, H2ae|histone H2A/a|histone H2AE|histone cluster 1 H2A family member e|histone cluster 1, H2ae 20211028 - 9606 3013 H2AC7 - H2A.3|H2A/g|H2AFG|HIST1H2AD MIM:602792|HGNC:HGNC:4729|Ensembl:ENSG00000196866 6 6p22.2 H2A clustered histone 7 protein-coding H2AC7 H2A clustered histone 7 O histone H2A type 1-D|H2A histone family, member G|histone 1, H2ad|histone H2A.3|histone H2A/g|histone H2AD|histone cluster 1 H2A family member d|histone cluster 1, H2ad 20211028 - 9606 3014 H2AX - H2A.X|H2A/X|H2AFX MIM:601772|HGNC:HGNC:4739|Ensembl:ENSG00000188486 11 11q23.3 H2A.X variant histone protein-coding H2AX H2A.X variant histone O histone H2AX|H2A histone family member X|H2AX histone|histone H2A.x 20211028 - 9606 3015 H2AZ1 - H2A.Z-1|H2A.z|H2A/z|H2AFZ|H2AZ MIM:142763|HGNC:HGNC:4741|Ensembl:ENSG00000164032 4 4q23 H2A.Z variant histone 1 protein-coding H2AZ1 H2A.Z variant histone 1 O histone H2A.Z|H2A histone family member Z|H2AZ histone 20211031 - 9606 3017 H2BC5 - H2B.1B|H2B/a|H2B/b|H2B/g|H2B/h|H2B/k|H2B/l|H2BFA|H2BFB|H2BFG|H2BFH|H2BFK|H2BFL|HIRIP2|HIST1H2BC|HIST1H2BD|HIST1H2BE|HIST1H2BF|HIST1H2BG|HIST1H2BI|dJ221C16.6 MIM:602799|HGNC:HGNC:4747|Ensembl:ENSG00000158373 6 6p22.2 H2B clustered histone 5 protein-coding H2BC5 H2B clustered histone 5 O histone H2B type 1-D|H2B histone family, member B|HIRA-interacting protein 2|Histone H2B type 1-C/E/F/G/I|Histone H2B.1 A|Histone H2B.a|Histone H2B.g|Histone H2B.h|Histone H2B.k|Histone H2B.l|histone 1, H2bd|histone H2B.1 B|histone H2B.b|histone cluster 1 H2B family member d|histone cluster 1, H2bd 20210708 - 9606 3018 H2BC3 - H2B.1|H2B/f|H2BFF|HIST1H2BB MIM:602803|HGNC:HGNC:4751|Ensembl:ENSG00000276410 6 6p22.2 H2B clustered histone 3 protein-coding H2BC3 H2B clustered histone 3 O histone H2B type 1-B|H2B histone family, member F|histone 1, H2bb|histone H2B.1|histone H2B.f|histone cluster 1 H2B family member b|histone cluster 1, H2bb 20210905 - 9606 3020 H3-3A - H3-3B|H3.3A|H3F3|H3F3A MIM:601128|HGNC:HGNC:4764|Ensembl:ENSG00000163041 1 1q42.12 H3.3 histone A protein-coding H3-3A H3.3 histone A O histone H3.3|H3 histone family member 3A|H3 histone, family 3A 20211028 - 9606 3021 H3-3B - H3-3A|H3.3B|H3F3B MIM:601058|HGNC:HGNC:4765|Ensembl:ENSG00000132475 17 17q25.1 H3.3 histone B protein-coding H3-3B H3.3 histone B O histone H3.3|H3 histone family member 3B|H3 histone, family 3B (H3.3B) 20211028 - 9606 3024 H1-1 - H1.1|H1A|H1F1|HIST1|HIST1H1A MIM:142709|HGNC:HGNC:4715|Ensembl:ENSG00000124610 6 6p22.2 H1.1 linker histone, cluster member protein-coding H1-1 H1.1 linker histone, cluster member O histone H1.1|H1 histone family, member 1|histone 1, H1a|histone H1a|histone cluster 1 H1 family member a|histone cluster 1, H1a 20210905 - 9606 3026 HABP2 - FSAP|HABP|HGFAL|NMTC5|PHBP MIM:603924|HGNC:HGNC:4798|Ensembl:ENSG00000148702 10 10q25.3 hyaluronan binding protein 2 protein-coding HABP2 hyaluronan binding protein 2 O hyaluronan-binding protein 2|factor VII activating protein|factor VII-activating protease|factor seven-activating protease|hepatocyte growth factor activator-like protein|hyaluronic acid binding protein 2|plasma hyaluronan binding protein 20210628 - 9606 3028 HSD17B10 - 17b-HSD10|ABAD|CAMR|DUPXp11.22|ERAB|HADH2|HCD2|HSD10MD|MHBD|MRPP2|MRX17|MRX31|MRXS10|SCHAD|SDR5C1 MIM:300256|HGNC:HGNC:4800|Ensembl:ENSG00000072506 X Xp11.22 hydroxysteroid 17-beta dehydrogenase 10 protein-coding HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 O 3-hydroxyacyl-CoA dehydrogenase type-2|3-hydroxy-2-methylbutyryl-CoA dehydrogenase|AB-binding alcohol dehydrogenase|amyloid-beta peptide binding alcohol dehydrogenase|endoplasmic reticulum-associated amyloid beta-peptide-binding protein|mitochondrial RNase P subunit 2|mitochondrial ribonuclease P protein 2|short chain L-3-hydroxyacyl-CoA dehydrogenase type 2|short chain type dehydrogenase/reductase XH98G2 20211017 - 9606 3029 HAGH - GLO2|GLX2|GLXII|HAGH1 MIM:138760|HGNC:HGNC:4805|Ensembl:ENSG00000063854 16 16p13.3 hydroxyacylglutathione hydrolase protein-coding HAGH hydroxyacylglutathione hydrolase O hydroxyacylglutathione hydrolase, mitochondrial|glyoxalase II|hydroxyacylglutathione hydroxylase 20211029 - 9606 3030 HADHA - ECHA|GBP|HADH|LCEH|LCHAD|MTPA|TP-ALPHA MIM:600890|HGNC:HGNC:4801|Ensembl:ENSG00000084754 2 2p23.3 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha protein-coding HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha O trifunctional enzyme subunit alpha, mitochondrial|3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit|3-oxoacyl-CoA thiolase|78 kDa gastrin-binding protein|gastrin-binding protein|hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit|hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit|long-chain 2-enoyl-CoA hydratase|long-chain-3-hydroxyacyl-CoA dehydrogenase|mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit|mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit|mitochondrial trifunctional enzyme, alpha subunit|mitochondrial trifunctional protein, alpha subunit|monolysocardiolipin acyltransferase 20210912 - 9606 3031 HADHAP1 - HADHAP HGNC:HGNC:4802|Ensembl:ENSG00000251596 4 4q32.3 HADHA pseudogene 1 pseudo HADHAP1 HADHA pseudogene 1 O gastrin binding protein pseudogene|hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 1|hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase pseudogene (gastrin binding protein pseudogene)|hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit pseudogene|hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase pseudogene (gastrin binding protein pseudogene) 20210611 - 9606 3032 HADHB - ECHB|MSTP029|MTPB|TP-BETA MIM:143450|HGNC:HGNC:4803|Ensembl:ENSG00000138029 2 2p23.3 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta protein-coding HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta O trifunctional enzyme subunit beta, mitochondrial|2-enoyl-Coenzyme A (CoA) hydratase, beta subunit|3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein, beta subunit|acetyl-CoA acyltransferase|beta-ketothiolase|hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit|hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit 20210905 - 9606 3033 HADH - HAD|HADH1|HADHSC|HCDH|HHF4|MSCHAD|SCHAD MIM:601609|HGNC:HGNC:4799|Ensembl:ENSG00000138796 4 4q25 hydroxyacyl-CoA dehydrogenase protein-coding HADH hydroxyacyl-CoA dehydrogenase O hydroxyacyl-coenzyme A dehydrogenase, mitochondrial|L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain|medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase|short-chain 3-hydroxyacyl-CoA dehydrogenase|testis secretory sperm-binding protein Li 203a 20210822 - 9606 3034 HAL - HIS|HSTD MIM:609457|HGNC:HGNC:4806|Ensembl:ENSG00000084110 12 12q23.1 histidine ammonia-lyase protein-coding HAL histidine ammonia-lyase O histidine ammonia-lyase|histidase 20210704 - 9606 3035 HARS1 - CMT2W|HARS|HRS|USH3B MIM:142810|HGNC:HGNC:4816|Ensembl:ENSG00000170445 5 5q31.3 histidyl-tRNA synthetase 1 protein-coding HARS1 histidyl-tRNA synthetase 1 O histidine--tRNA ligase, cytoplasmic|HisRS|Jo-1 antigen|histidine translase 20210808 - 9606 3036 HAS1 - HAS MIM:601463|HGNC:HGNC:4818|Ensembl:ENSG00000105509 19 19q13.41 hyaluronan synthase 1 protein-coding HAS1 hyaluronan synthase 1 O hyaluronan synthase 1|HA synthase 1|hyaluronate synthase 1|hyaluronic acid synthase 1 20210822 - 9606 3037 HAS2 - - MIM:601636|HGNC:HGNC:4819|Ensembl:ENSG00000170961 8 8q24.13 hyaluronan synthase 2 protein-coding HAS2 hyaluronan synthase 2 O hyaluronan synthase 2|HA synthase 2|hyaluronate synthase 2|hyaluronic acid synthase 2 20210912 - 9606 3038 HAS3 - - MIM:602428|HGNC:HGNC:4820|Ensembl:ENSG00000103044 16 16q22.1 hyaluronan synthase 3 protein-coding HAS3 hyaluronan synthase 3 O hyaluronan synthase 3|HA synthase 3|hyaluronate synthase 3|hyaluronic acid synthase 3 20210708 - 9606 3039 HBA1 - ECYT7|HBA-T3|HBH|METHBA MIM:141800|HGNC:HGNC:4823|Ensembl:ENSG00000206172 16 16p13.3 hemoglobin subunit alpha 1 protein-coding HBA1 hemoglobin subunit alpha 1 O hemoglobin subunit alpha|alpha globin chain|alpha one globin|alpha-2 globin chain|delta globin|hemoglobin alpha 1 globin chain|hemoglobin, alpha 1 20211031 - 9606 3040 HBA2 - ECYT7|HBA-T2|HBH MIM:141850|HGNC:HGNC:4824|Ensembl:ENSG00000188536 16 16p13.3 hemoglobin subunit alpha 2 protein-coding HBA2 hemoglobin subunit alpha 2 O hemoglobin subunit alpha|alpha globin|alpha-2 globin|hemoglobin alpha chain|hemoglobin, alpha 2|mutant hemoglobin alpha 2 globin chain|truncated HbA2 20210919 - 9606 3041 HBAP1 - HBA-T1|HBA3|HBA3P HGNC:HGNC:4825|Ensembl:ENSG00000225323 16 16p13.3 hemoglobin subunit alpha pseudogene 1 pseudo HBAP1 hemoglobin subunit alpha pseudogene 1 O alpha globin pseudogene 1|hemoglobin, alpha pseudogene 1 20210611 - 9606 3042 HBM - HBAP2|HBK MIM:609639|HGNC:HGNC:4826|Ensembl:ENSG00000206177 16 16p13.3 hemoglobin subunit mu protein-coding HBM hemoglobin subunit mu O hemoglobin subunit mu|alpha globin pseudogene 2|hemoglobin mu chain|hemoglobin, alpha pseudogene 2|hemoglobin, mu|mu-globin 20210611 - 9606 3043 HBB - CD113t-C|ECYT6|beta-globin MIM:141900|HGNC:HGNC:4827|Ensembl:ENSG00000244734 11 11p15.4 hemoglobin subunit beta protein-coding HBB hemoglobin subunit beta O hemoglobin subunit beta|beta globin chain|hemoglobin beta subunit|hemoglobin, beta 20211026 - 9606 3044 HBBP1 - HBH1|HBHP HGNC:HGNC:4828 11 11p15.4 hemoglobin subunit beta pseudogene 1 pseudo HBBP1 hemoglobin subunit beta pseudogene 1 O beta globin pseudogene|hemoglobin, beta pseudogene 1 20210906 - 9606 3045 HBD - - MIM:142000|HGNC:HGNC:4829|Ensembl:ENSG00000223609 11 11p15.4 hemoglobin subunit delta protein-coding HBD hemoglobin subunit delta O hemoglobin subunit delta|delta globin|delta-globin chain|hemoglobin delta chain|hemoglobin, delta 20211009 - 9606 3046 HBE1 - HBE MIM:142100|HGNC:HGNC:4830|Ensembl:ENSG00000213931 11 11p15.4 hemoglobin subunit epsilon 1 protein-coding HBE1 hemoglobin subunit epsilon 1 O hemoglobin subunit epsilon|epsilon globin|hemoglobin epsilon chain|hemoglobin, epsilon 1 20210708 - 9606 3047 HBG1 - HBG-T2|HBGA|HBGR|HSGGL1|PRO2979 MIM:142200|HGNC:HGNC:4831|Ensembl:ENSG00000213934 11 11p15.4 hemoglobin subunit gamma 1 protein-coding HBG1 hemoglobin subunit gamma 1 O hemoglobin subunit gamma-1|A-gamma globin|gamma A hemoglobin|gamma globin|gamma-1-globin|hb F Agamma|hemoglobin gamma-1 chain|hemoglobin gamma-a chain|hemoglobin, gamma A|hemoglobin, gamma, regulator of 20211014 - 9606 3048 HBG2 - HBG-T1|TNCY MIM:142250|HGNC:HGNC:4832|Ensembl:ENSG00000196565 11 11p15.4 hemoglobin subunit gamma 2 protein-coding HBG2 hemoglobin subunit gamma 2 O hemoglobin subunit gamma-2|G-gamma globin Paulinia|abnormal hemoglobin|gamma globin|gamma-2-globin|gamma-globin chain|hb F Ggamma|hemoglobin gamma-2 chain|hemoglobin gamma-G chain|hemoglobin, gamma G|methemoglobin 20211014 - 9606 3049 HBQ1 - HBQ MIM:142240|HGNC:HGNC:4833|Ensembl:ENSG00000086506 16 16p13.3 hemoglobin subunit theta 1 protein-coding HBQ1 hemoglobin subunit theta 1 O hemoglobin subunit theta-1|hemoglobin theta-1 chain|hemoglobin, theta 1|theta-1-globin 20210611 - 9606 3050 HBZ - HBAZ|HBZ-T1|HBZ1 MIM:142310|HGNC:HGNC:4835|Ensembl:ENSG00000130656 16 16p13.3 hemoglobin subunit zeta protein-coding HBZ hemoglobin subunit zeta O hemoglobin subunit zeta|hemoglobin zeta chain|hemoglobin, zeta|zeta-globin 20210814 - 9606 3051 HBZP1 - HBZ-T2|HBZ2|HBZ2P|HBZP HGNC:HGNC:4836|Ensembl:ENSG00000206178 16 16p13.3 hemoglobin subunit zeta pseudogene 1 pseudo HBZP1 hemoglobin subunit zeta pseudogene 1 O hemoglobin, zeta pseudogene 1|zeta globin pseudogene 20210611 - 9606 3052 HCCS - CCHL|LSDMCA1|MCOPS7|MLS MIM:300056|HGNC:HGNC:4837|Ensembl:ENSG00000004961 X Xp22.2 holocytochrome c synthase protein-coding HCCS holocytochrome c synthase O holocytochrome c-type synthase|cytochrome c heme-lyase|cytochrome c-type heme lyase|holocytochrome-c synthetase|microphthalamia with linear skin defects|microphthalmia with linear skin defects 20210905 - 9606 3053 SERPIND1 - D22S673|HC2|HCF2|HCII|HLS2|LS2|THPH10 MIM:142360|HGNC:HGNC:4838|Ensembl:ENSG00000099937 22 22q11.21 serpin family D member 1 protein-coding SERPIND1 serpin family D member 1 O heparin cofactor 2|heparin cofactor II splice isoform|leuserpin 2|protease inhibitor leuserpin-2|serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1|serpin D1|serpin peptidase inhibitor, clade D (heparin cofactor), member 1 20210708 - 9606 3054 HCFC1 - CFF|HCF|HCF-1|HCF1|HFC1|MRX3|PPP1R89|VCAF MIM:300019|HGNC:HGNC:4839|Ensembl:ENSG00000172534 X Xq28 host cell factor C1 protein-coding HCFC1 host cell factor C1 O host cell factor 1|VP16-accessory protein|protein phosphatase 1, regulatory subunit 89 20210912 - 9606 3055 HCK - JTK9|p59Hck|p61Hck MIM:142370|HGNC:HGNC:4840|Ensembl:ENSG00000101336 20 20q11.21 HCK proto-oncogene, Src family tyrosine kinase protein-coding HCK HCK proto-oncogene, Src family tyrosine kinase O tyrosine-protein kinase HCK|hematopoietic cell kinase|hemopoietic cell kinase|p59-HCK/p60-HCK 20210828 - 9606 3056 HCL1 - BRHC - 19 - hair color 1 (brown) unknown - - - Brown hair color 20191002 - 9606 3057 HCL2 - RHA|RHC MIM:266300 4 4q28-q31 hair color 2 (red) unknown - - - - 20191002 - 9606 3059 HCLS1 - CTTNL|HS1|lckBP1|p75 MIM:601306|HGNC:HGNC:4844|Ensembl:ENSG00000180353 3 3q13.33 hematopoietic cell-specific Lyn substrate 1 protein-coding HCLS1 hematopoietic cell-specific Lyn substrate 1 O hematopoietic lineage cell-specific protein 20210704 - 9606 3060 HCRT - NRCLP1|OX|PPOX MIM:602358|HGNC:HGNC:4847|Ensembl:ENSG00000161610 17 17q21.2 hypocretin neuropeptide precursor protein-coding HCRT hypocretin neuropeptide precursor O orexin|hypocretin (orexin) neuropeptide|prepro-orexin 20210816 - 9606 3061 HCRTR1 - ORXR1|OX1R|OXR1 MIM:602392|HGNC:HGNC:4848|Ensembl:ENSG00000121764 1 1p35.2 hypocretin receptor 1 protein-coding HCRTR1 hypocretin receptor 1 O orexin receptor type 1|hypocretin (orexin) receptor 1|hypocretin receptor type 1|orexin receptor 1 20211003 - 9606 3062 HCRTR2 - ORXR2|OX2R|OXR2 MIM:602393|HGNC:HGNC:4849|Ensembl:ENSG00000137252 6 6p12.1 hypocretin receptor 2 protein-coding HCRTR2 hypocretin receptor 2 O orexin receptor type 2|hypocretin (orexin) receptor 2|hypocretin receptor type 2|orexin type-2 receptor 20210708 - 9606 3063 HCVS - - MIM:122460 15 15q11-qter human coronavirus sensitivity unknown - - - - 20191002 - 9606 3064 HTT - HD|IT15|LOMARS MIM:613004|HGNC:HGNC:4851|Ensembl:ENSG00000197386 4 4p16.3 huntingtin protein-coding HTT huntingtin O huntingtin|huntington disease protein 20211031 - 9606 3065 HDAC1 - GON-10|HD1|KDAC1|RPD3|RPD3L1 MIM:601241|HGNC:HGNC:4852|Ensembl:ENSG00000116478 1 1p35.2-p35.1 histone deacetylase 1 protein-coding HDAC1 histone deacetylase 1 O histone deacetylase 1|reduced potassium dependency, yeast homolog-like 1 20211026 - 9606 3066 HDAC2 - HD2|KDAC2|RPD3|YAF1 MIM:605164|HGNC:HGNC:4853|Ensembl:ENSG00000196591 6 6q21 histone deacetylase 2 protein-coding HDAC2 histone deacetylase 2 O histone deacetylase 2|YY1-associated factor 1|transcriptional regulator homolog RPD3 20211026 - 9606 3067 HDC - - MIM:142704|HGNC:HGNC:4855|Ensembl:ENSG00000140287 15 15q21.2 histidine decarboxylase protein-coding HDC histidine decarboxylase O histidine decarboxylase 20210708 - 9606 3068 HDGF - HMG1L2 MIM:600339|HGNC:HGNC:4856|Ensembl:ENSG00000143321 1 1q23.1 heparin binding growth factor protein-coding HDGF heparin binding growth factor O hepatoma-derived growth factor|epididymis secretory sperm binding protein|hepatoma derived growth factor|high mobility group protein 1-like 2 20210906 - 9606 3069 HDLBP - HBP|PRO2900|VGL MIM:142695|HGNC:HGNC:4857|Ensembl:ENSG00000115677 2 2q37.3 high density lipoprotein binding protein protein-coding HDLBP high density lipoprotein binding protein O vigilin|HDL-binding protein 20211009 - 9606 3070 HELLS - ICF4|LSH|Nbla10143|PASG|SMARCA6 MIM:603946|HGNC:HGNC:4861|Ensembl:ENSG00000119969 10 10q23.33 helicase, lymphoid specific protein-coding HELLS helicase, lymphoid specific O lymphoid-specific helicase|SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6|proliferation-associated SNF2-like protein 20211028 - 9606 3071 NCKAP1L - HEM1|IMD72 MIM:141180|HGNC:HGNC:4862|Ensembl:ENSG00000123338 12 12q13.13-q13.2 NCK associated protein 1 like protein-coding NCKAP1L NCK associated protein 1 like O nck-associated protein 1-like|hematopoietic protein 1|membrane-associated protein hem-1 20210905 - 9606 3073 HEXA - TSD MIM:606869|HGNC:HGNC:4878|Ensembl:ENSG00000213614 15 15q23 hexosaminidase subunit alpha protein-coding HEXA hexosaminidase subunit alpha O beta-hexosaminidase subunit alpha|N-acetyl-beta-glucosaminidase subunit alpha|beta-N-acetylhexosaminidase subunit alpha|hexosaminidase A (alpha polypeptide)|hexosaminidase subunit A 20210919 - 9606 3074 HEXB - ENC-1AS|HEL-248|HEL-S-111 MIM:606873|HGNC:HGNC:4879|Ensembl:ENSG00000049860 5 5q13.3 hexosaminidase subunit beta protein-coding HEXB hexosaminidase subunit beta O beta-hexosaminidase subunit beta|HCC-7|N-acetyl-beta-glucosaminidase subunit beta|beta-N-acetylhexosaminidase subunit beta|beta-hexosaminidase beta-subunit|cervical cancer proto-oncogene 7 protein|epididymis luminal protein 248|epididymis secretory protein Li 111|epididymis secretory sperm binding protein|hexosaminidase B (beta polypeptide)|hexosaminidase subunit B 20210822 - 9606 3075 CFH - AHUS1|AMBP1|ARMD4|ARMS1|CFHL3|FH|FHL1|HF|HF1|HF2|HUS MIM:134370|HGNC:HGNC:4883|Ensembl:ENSG00000000971 1 1q31.3 complement factor H protein-coding CFH complement factor H O complement factor H|H factor 1 (complement)|H factor 2 (complement)|adrenomedullin binding protein|age-related maculopathy susceptibility 1|beta-1-H-globulin|beta-1H|factor H|factor H-like 1 20211026 - 9606 3077 HFE - HFE1|HH|HLA-H|MVCD7|TFQTL2 MIM:613609|HGNC:HGNC:4886|Ensembl:ENSG00000010704 6 6p22.2 homeostatic iron regulator protein-coding HFE homeostatic iron regulator O hereditary hemochromatosis protein|MHC class I-like protein HFE|hereditary hemochromatosis protein HLA-H|high Fe 20210919 - 9606 3078 CFHR1 - CFHL|CFHL1|CFHL1P|CFHR1P|FHR-1|FHR1|H36|H36-1|H36-2|HFL1|HFL2 MIM:134371|HGNC:HGNC:4888|Ensembl:ENSG00000244414 1 1q31.3 complement factor H related 1 protein-coding CFHR1 complement factor H related 1 O complement factor H-related protein 1|H factor (complement)-like 1|H factor (complement)-like 2|H-factor-like 1|complement factor H-related 1 pseudogene|h factor-like protein 1 20210708 - 9606 3080 CFHR2 - CFHL2|FHR2|HFL3 MIM:600889|HGNC:HGNC:4890|Ensembl:ENSG00000080910 1 1q31.3 complement factor H related 2 protein-coding CFHR2 complement factor H related 2 O complement factor H-related protein 2|DDESK59|FHR-2|H factor (complement)-like 3|factor H-related gene 2|h factor-like 3|h factor-like protein 2 20210906 - 9606 3081 HGD - AKU|HGO MIM:607474|HGNC:HGNC:4892|Ensembl:ENSG00000113924 3 3q13.33 homogentisate 1,2-dioxygenase protein-coding HGD homogentisate 1,2-dioxygenase O homogentisate 1,2-dioxygenase|homogentisate oxidase|homogentisate oxygenase|homogentisic acid oxidase|homogentisicase 20211028 - 9606 3082 HGF - DFNB39|F-TCF|HGFB|HPTA|SF MIM:142409|HGNC:HGNC:4893|Ensembl:ENSG00000019991 7 7q21.11 hepatocyte growth factor protein-coding HGF hepatocyte growth factor O hepatocyte growth factor|fibroblast-derived tumor cytotoxic factor|hepatocyte growth factor (hepapoietin A; scatter factor)|hepatopoietin-A|lung fibroblast-derived mitogen 20211026 - 9606 3083 HGFAC - HGFA MIM:604552|HGNC:HGNC:4894|Ensembl:ENSG00000109758 4 4p16.3 HGF activator protein-coding HGFAC HGF activator O hepatocyte growth factor activator 20210611 - 9606 3084 NRG1 - ARIA|GGF|GGF2|HGL|HRG|HRG1|HRGA|MST131|MSTP131|NDF|NRG1-IT2|SMDF MIM:142445|HGNC:HGNC:7997|Ensembl:ENSG00000157168 8 8p12 neuregulin 1 protein-coding NRG1 neuregulin 1 O pro-neuregulin-1, membrane-bound isoform|acetylcholine receptor-inducing activity|glial growth factor 2|heregulin, alpha (45kD, ERBB2 p185-activator)|neu differentiation factor|pro-NRG1|sensory and motor neuron derived factor 20211026 - 9606 3087 HHEX - HEX|HMPH|HOX11L-PEN|PRH|PRHX MIM:604420|HGNC:HGNC:4901|Ensembl:ENSG00000152804 10 10q23.33 hematopoietically expressed homeobox protein-coding HHEX hematopoietically expressed homeobox O hematopoietically-expressed homeobox protein HHEX|homeobox protein HEX|homeobox protein PRH|homeobox, hematopoietically expressed|proline-rich homeodomain-containing transcription factor 20210622 - 9606 3090 HIC1 - ZBTB29|ZNF901|hic-1 MIM:603825|HGNC:HGNC:4909|Ensembl:ENSG00000177374 17 17p13.3 HIC ZBTB transcriptional repressor 1 protein-coding HIC1 HIC ZBTB transcriptional repressor 1 O hypermethylated in cancer 1 protein|hypermethylated in cancer 1|zinc finger and BTB domain-containing protein 29 20210816 - 9606 3091 HIF1A - HIF-1-alpha|HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78 MIM:603348|HGNC:HGNC:4910|Ensembl:ENSG00000100644 14 14q23.2 hypoxia inducible factor 1 subunit alpha protein-coding HIF1A hypoxia inducible factor 1 subunit alpha O hypoxia-inducible factor 1-alpha|ARNT interacting protein|PAS domain-containing protein 8|PAS domain-containing protein 8", "Class E basic helix-loop-helix protein 78", "Member of PAS protein 1|basic-helix-loop-helix-PAS protein MOP1|class E basic helix-loop-helix protein 78|hypoxia inducible factor 1 alpha subunit|hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)|hypoxia-inducible factor1alpha|member of PAS protein 1|member of PAS superfamily 1 20211031 - 9606 3092 HIP1 - HIP-I|ILWEQ|SHON|SHONbeta|SHONgamma MIM:601767|HGNC:HGNC:4913|Ensembl:ENSG00000127946 7 7q11.23 huntingtin interacting protein 1 protein-coding HIP1 huntingtin interacting protein 1 O huntingtin-interacting protein 1|huntingtin-interacting protein I 20211016 - 9606 3093 UBE2K - E2-25K|HIP2|HYPG|LIG|UBC1 MIM:602846|HGNC:HGNC:4914|Ensembl:ENSG00000078140 4 4p14 ubiquitin conjugating enzyme E2 K protein-coding UBE2K ubiquitin conjugating enzyme E2 K O ubiquitin-conjugating enzyme E2 K|E2 ubiquitin-conjugating enzyme K|E2(25K)|HIP-2|huntingtin-interacting protein 2|ubiquitin carrier protein|ubiquitin conjugating enzyme E2K|ubiquitin-conjugating enzyme E2(25K)|ubiquitin-conjugating enzyme E2-25 KDA|ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)|ubiquitin-protein ligase 20210716 - 9606 3094 HINT1 - HINT|NMAN|PKCI-1|PRKCNH1 MIM:601314|HGNC:HGNC:4912|Ensembl:ENSG00000169567 5 5q23.3 histidine triad nucleotide binding protein 1 protein-coding HINT1 histidine triad nucleotide binding protein 1 O histidine triad nucleotide-binding protein 1|adenosine 5'-monophosphoramidase|epididymis secretory sperm binding protein|protein kinase C inhibitor 1|protein kinase C-interacting protein 1 20211106 - 9606 3096 HIVEP1 - CIRIP|CRYBP1|GAAP|MBP-1|PRDII-BF1|Schnurri-1|ZAS1|ZNF40|ZNF40A MIM:194540|HGNC:HGNC:4920|Ensembl:ENSG00000095951 6 6p24.1 HIVEP zinc finger 1 protein-coding HIVEP1 HIVEP zinc finger 1 O zinc finger protein 40|cirhin interaction protein|gate keeper of apoptosis-activating protein|human immunodeficiency virus type I enhancer binding protein 1|major histocompatibility complex binding protein 1|positive regulatory domain II binding factor 1 20210905 - 9606 3097 HIVEP2 - HIV-EP2|MBP-2|MIBP1|MRD43|SHN2|ZAS2|ZNF40B MIM:143054|HGNC:HGNC:4921|Ensembl:ENSG00000010818 6 6q24.2 HIVEP zinc finger 2 protein-coding HIVEP2 HIVEP zinc finger 2 O transcription factor HIVEP2|MHC binding protein-2|Schnurri-2|c-myc intron binding protein 1|human immunodeficiency virus type I enhancer binding protein 2 20211009 - 9606 3098 HK1 - HK|HK1-ta|HK1-tb|HK1-tc|HKD|HKI|HMSNR|HXK1|NEDVIBA|RP79|hexokinase MIM:142600|HGNC:HGNC:4922|Ensembl:ENSG00000156515 10 10q22.1 hexokinase 1 protein-coding HK1 hexokinase 1 O hexokinase-1|brain form hexokinase|glycolytic enzyme|hexokinase IR|hexokinase type I|hexokinase-A 20210906 - 9606 3099 HK2 - HKII|HXK2 MIM:601125|HGNC:HGNC:4923|Ensembl:ENSG00000159399 2 2p12 hexokinase 2 protein-coding HK2 hexokinase 2 O hexokinase-2|hexokinase type II|hexokinase-2, muscle|hexokinase-B|muscle form hexokinase 20211017 - 9606 3101 HK3 - HKIII|HXK3 MIM:142570|HGNC:HGNC:4925|Ensembl:ENSG00000160883 5 5q35.2 hexokinase 3 protein-coding HK3 hexokinase 3 O hexokinase-3|ATP:D-hexose 6-phosphotransferase|HK III|hexokinase 3 (white cell)|hexokinase type III|hexokinase-C 20210708 - 9606 3104 ZBTB48 - HKR3|TZAP|ZNF855|pp9964 MIM:165270|HGNC:HGNC:4930|Ensembl:ENSG00000204859 1 1p36.31 zinc finger and BTB domain containing 48 protein-coding ZBTB48 zinc finger and BTB domain containing 48 O telomere zinc finger-associated protein|GLI-Kruppel family member HKR3|krueppel-related zinc finger protein 3|telomeric zinc finger-associated protein|zinc finger and BTB domain-containing protein 48|zinc finger protein 855 20210611 - 9606 3105 HLA-A - HLAA MIM:142800|HGNC:HGNC:4931|Ensembl:ENSG00000206503 6 6p22.1 major histocompatibility complex, class I, A protein-coding HLA-A major histocompatibility complex, class I, A O HLA class I histocompatibility antigen, A alpha chain|HLA class I histocompatibility antigen, A-1 alpha chain|MHC class I antigen HLA-A heavy chain|leukocyte antigen class I-A 20211017 - 9606 3106 HLA-B - AS|B-4901|HLAB MIM:142830|HGNC:HGNC:4932|Ensembl:ENSG00000234745 6 6p21.33 major histocompatibility complex, class I, B protein-coding HLA-B major histocompatibility complex, class I, B O major histocompatibility complex, class I, B|HLA class I antigen HLA-B|HLA class I histocompatibility antigen, B alpha chain|MHC HLA-B cell surface glycoprotein|MHC HLA-B transmembrane glycoprotein|MHC class 1 antigen|MHC class I antigen HLA-B alpha chain|MHC class I antigen HLA-B heavy chain|MHC class I antigen SHCHA|MHC class I molecule|leukocyte antigen class I-B 20211031 - 9606 3107 HLA-C - D6S204|HLA-JY3|HLAC|HLC-C|MHC|PSORS1 MIM:142840|HGNC:HGNC:4933|Ensembl:ENSG00000204525 6 6p21.33 major histocompatibility complex, class I, C protein-coding HLA-C major histocompatibility complex, class I, C O HLA class I histocompatibility antigen, C alpha chain|HLA-C antigen|MHC class I antigen heavy chain HLA-C|human leukocyte antigen-C alpha chain|major histocompatibility antigen HLA-C 20211017 - 9606 3108 HLA-DMA - D6S222E|DMA|HLADM|RING6 MIM:142855|HGNC:HGNC:4934|Ensembl:ENSG00000204257 6 6p21.32 major histocompatibility complex, class II, DM alpha protein-coding HLA-DMA major histocompatibility complex, class II, DM alpha O HLA class II histocompatibility antigen, DM alpha chain|MHC class II antigen DMA|class II histocompatibility antigen, M alpha chain|really interesting new gene 6 protein 20210708 - 9606 3109 HLA-DMB - D6S221E|RING7 MIM:142856|HGNC:HGNC:4935|Ensembl:ENSG00000242574 6 6p21.32 major histocompatibility complex, class II, DM beta protein-coding HLA-DMB major histocompatibility complex, class II, DM beta O HLA class II histocompatibility antigen, DM beta chain|MHC class II HLA-DMB|MHC class II antigen DMB|MHC class II antigen HLA-DM beta chain|class II histocompatibility antigen, M beta chain|really interesting new gene 7 protein 20210708 - 9606 3110 MNX1 - HB9|HLXB9|HOXHB9|SCRA1 MIM:142994|HGNC:HGNC:4979|Ensembl:ENSG00000130675 7 7q36.3 motor neuron and pancreas homeobox 1 protein-coding MNX1 motor neuron and pancreas homeobox 1 O motor neuron and pancreas homeobox protein 1|homeobox HB9|homeobox protein HB9 20211017 - 9606 3111 HLA-DOA - HLA-DNA|HLA-DZA|HLADZ MIM:142930|HGNC:HGNC:4936|Ensembl:ENSG00000204252 6 6p21.32 major histocompatibility complex, class II, DO alpha protein-coding HLA-DOA major histocompatibility complex, class II, DO alpha O HLA class II histocompatibility antigen, DO alpha chain|HLA-D0-alpha|MHC DN-alpha|MHC DZ alpha|MHC class II antigen DOA|lymphocyte antigen|major histocompatibility complex, class II, DN alpha 20210716 - 9606 3112 HLA-DOB - DOB|HLA_DOB MIM:600629|HGNC:HGNC:4937|Ensembl:ENSG00000241106 6 6p21.32 major histocompatibility complex, class II, DO beta protein-coding HLA-DOB major histocompatibility complex, class II, DO beta O HLA class II histocompatibility antigen, DO beta chain|MHC class II antigen DOB 20210708 - 9606 3113 HLA-DPA1 - DP(W3)|DP(W4)|DPA1|HLA-DP1A|HLA-DPA|HLA-DPB1|HLADP|HLASB|PLT1 MIM:142880|HGNC:HGNC:4938|Ensembl:ENSG00000231389 6 6p21.32 major histocompatibility complex, class II, DP alpha 1 protein-coding HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 O HLA class II histocompatibility antigen, DP alpha 1 chain|HLA DPA1|HLA-DPA1*01:03:01:New|HLA-DPA1*02:01:01:NEW|HLA-SB alpha chain|MHC class II DP alpha chain|MHC class II DP3-alpha|MHC class II HLA-DPA1 antigen|MHC class II antigen DP alpha chain|MHC class II protein 20211101 - 9606 3115 HLA-DPB1 - DPB1|HLA-DP|HLA-DP1B|HLA-DPB MIM:142858|HGNC:HGNC:4940|Ensembl:ENSG00000223865 6 6p21.32 major histocompatibility complex, class II, DP beta 1 protein-coding HLA-DPB1 major histocompatibility complex, class II, DP beta 1 O HLA class II histocompatibility antigen, DP beta 1 chain|HLA class II histocompatibility antigen, DP(W4) beta chain|HLA-DP histocompatibility type, beta-1 subunit|MHC HLA DPB1|MHC class II HLA-DP-beta-1|MHC class II antigen DPB1 20211017 - 9606 3116 HLA-DPB2 - DP2B|DPB2|DPbeta2|HLA-DP2B HGNC:HGNC:4941|Ensembl:ENSG00000224557 6 6p21.32 major histocompatibility complex, class II, DP beta 2 (pseudogene) pseudo HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene) O - 20210611 - 9606 3117 HLA-DQA1 - CELIAC1|DQ-A1|DQA1|HLA-DQA MIM:146880|HGNC:HGNC:4942|Ensembl:ENSG00000196735 6 6p21.32 major histocompatibility complex, class II, DQ alpha 1 protein-coding HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 O HLA class II histocompatibility antigen, DQ alpha 1 chain|DC-1 alpha chain|DC-alpha|HLA class II histocompatibility antigen DQ alpha chain|HLA-DCA|MHC HLA-DQ alpha|MHC class II DQ alpha chain|MHC class II DQA1|MHC class II HLA-DQ-alpha-1|MHC class II antigen DQA1|MHC class II protein|truncated MHC class II antigen 20211101 - 9606 3118 HLA-DQA2 - DC-alpha|DX-ALPHA|HLA-DCA|HLA-DXA|HLADQA2 MIM:613503|HGNC:HGNC:4943|Ensembl:ENSG00000237541 6 6p21.32 major histocompatibility complex, class II, DQ alpha 2 protein-coding HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 O HLA class II histocompatibility antigen, DQ alpha 2 chain|DC-1 alpha chain|DX alpha chain|HLA class II histocompatibility antigen, DQ alpha 1 chain|HLA class II histocompatibility antigen, DQ(6) alpha chain|MHC class I antigen|MHC class II DQA1|MHC class II DQA2|MHC class II antigen 20211014 - 9606 3119 HLA-DQB1 - CELIAC1|HLA-DQB|IDDM1 MIM:604305|HGNC:HGNC:4944|Ensembl:ENSG00000179344 6 6p21.32 major histocompatibility complex, class II, DQ beta 1 protein-coding HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 O HLA class II histocompatibility antigen, DQ beta 1 chain|MHC class II DQ beta chain|MHC class II HLA-DQ beta glycoprotein|MHC class II antigen DQB1|MHC class II antigen HLA-DQ-beta-1 20211026 - 9606 3120 HLA-DQB2 - DQB2|HLA-DQB1|HLA-DXB MIM:615161|HGNC:HGNC:4945|Ensembl:ENSG00000232629 6 6p21.32 major histocompatibility complex, class II, DQ beta 2 protein-coding HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 O HLA class II histocompatibility antigen, DQ beta 2 chain|DV19.1 (major histocompatibility complex, class II, DQ beta 2 (HLA-DXB))|HLA class II histocompatibility antigen, DX beta chain|MHC class II antigen DQB2 20210802 - 9606 3121 HLA-DQB3 - D6S205|D6S205E|DQB3|DVB|DVbeta|HLA-DVB HGNC:HGNC:4946 6 6p21.3 major histocompatibility complex, class II, DQ beta 3 protein-coding HLA-DQB3 major histocompatibility complex, class II, DQ beta 3 O major histocompatibility complex, class II, DQ beta 3 20190324 - 9606 3122 HLA-DRA - HLA-DRA1 MIM:142860|HGNC:HGNC:4947|Ensembl:ENSG00000204287 6 6p21.32 major histocompatibility complex, class II, DR alpha protein-coding HLA-DRA major histocompatibility complex, class II, DR alpha O HLA class II histocompatibility antigen, DR alpha chain|MHC class II antigen DRA|histocompatibility antigen HLA-DR alpha 20211017 - 9606 3123 HLA-DRB1 - DRB1|HLA-DR1B|HLA-DRB|SS1 MIM:142857|HGNC:HGNC:4948|Ensembl:ENSG00000196126 6 6p21.32 major histocompatibility complex, class II, DR beta 1 protein-coding HLA-DRB1 major histocompatibility complex, class II, DR beta 1 O major histocompatibility complex, class II, DR beta 1 precursor|HLA class II histocompatibility antigen, DR-1 beta chain|MHC class II HLA-DR beta 1 chain|human leucocyte antigen DRB1|lymphocyte antigen DRB1 20211031 - 9606 3124 HLA-DRB2 - HLA-DR2B HGNC:HGNC:4950 6 6p21.3 major histocompatibility complex, class II, DR beta 2 (pseudogene) pseudo HLA-DRB2 major histocompatibility complex, class II, DR beta 2 (pseudogene) O - 20210716 - 9606 3125 HLA-DRB3 - DRB3|HLA-DPB1|HLA-DR1B|HLA-DR3B|HLA-DRB3* MIM:612735|HGNC:HGNC:4951 6 6p21.3 major histocompatibility complex, class II, DR beta 3 protein-coding HLA-DRB3 major histocompatibility complex, class II, DR beta 3 O major histocompatibility complex, class II, DR beta 3|HLA DRB3|HLA class II histocompatibility antigen, DR beta 3 chain|MHC class II DR beta chain|MHC class II HLA-DR beta 3 chain|MHC class II antigen DR beta 3 chain|MHC class II antigen DRB3|MHC class II protein|human leucocyte antigen DRB3 20211018 - 9606 3126 HLA-DRB4 - DR4|DRB4|HLA-DR4B|HLA-DRB4* HGNC:HGNC:4952 6 6p21.3 major histocompatibility complex, class II, DR beta 4 protein-coding HLA-DRB4 major histocompatibility complex, class II, DR beta 4 O major histocompatibility complex, class II, DR beta 4|HLA class II histocompatibility antigen, DR beta 4 chain|MHC class II antigen DRB4 20211014 - 9606 3127 HLA-DRB5 - HLA-DRB5* MIM:604776|HGNC:HGNC:4953|Ensembl:ENSG00000198502 6 6p21.32 major histocompatibility complex, class II, DR beta 5 protein-coding HLA-DRB5 major histocompatibility complex, class II, DR beta 5 O major histocompatibility complex, class II, DR beta 5|DR beta-5|HLA class II histocompatibility antigen, DR-5 beta chain|MHC class II antigen DRB5 20211014 - 9606 3128 HLA-DRB6 - - HGNC:HGNC:4954|Ensembl:ENSG00000229391 6 6p21.32 major histocompatibility complex, class II, DR beta 6 (pseudogene) pseudo HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) O MHC class II antigen 20210611 - 9606 3129 HLA-DRB7 - - HGNC:HGNC:4955 6 6p21.3 major histocompatibility complex, class II, DR beta 7 (pseudogene) pseudo HLA-DRB7 major histocompatibility complex, class II, DR beta 7 (pseudogene) O - 20210611 - 9606 3130 HLA-DRB8 - - HGNC:HGNC:4956 6 6p21.3 major histocompatibility complex, class II, DR beta 8 (pseudogene) pseudo HLA-DRB8 major histocompatibility complex, class II, DR beta 8 (pseudogene) O - 20210611 - 9606 3131 HLF - - MIM:142385|HGNC:HGNC:4977|Ensembl:ENSG00000108924 17 17q22 HLF transcription factor, PAR bZIP family member protein-coding HLF HLF transcription factor, PAR bZIP family member O hepatic leukemia factor|E2A-HLF fusion transcript protein|HLF, PAR bZIP transcription factor|PAR bZIP transcription factor 20211016 - 9606 3132 HLA-DRB9 - D6S206|D6S206E|HLA-DR1BL|HLA-DRB1L HGNC:HGNC:4957 6 6p21.32 major histocompatibility complex, class II, DR beta 9 (pseudogene) pseudo HLA-DRB9 major histocompatibility complex, class II, DR beta 9 (pseudogene) O MHC class II antigen 20210611 - 9606 3133 HLA-E - HLA-6.2|QA1 MIM:143010|HGNC:HGNC:4962|Ensembl:ENSG00000204592 6 6p22.1 major histocompatibility complex, class I, E protein-coding HLA-E major histocompatibility complex, class I, E O HLA class I histocompatibility antigen, alpha chain E|MHC class I antigen E|MHC class Ib antigen 20210927 - 9606 3134 HLA-F - CDA12|HLA-5.4|HLA-CDA12|HLAF MIM:143110|HGNC:HGNC:4963|Ensembl:ENSG00000204642 6 6p22.1 major histocompatibility complex, class I, F protein-coding HLA-F major histocompatibility complex, class I, F O HLA class I histocompatibility antigen, alpha chain F|HLA F antigen|MHC class I antigen F|leukocyte antigen F 20210708 - 9606 3135 HLA-G - MHC-G MIM:142871|HGNC:HGNC:4964|Ensembl:ENSG00000204632 6 6p22.1 major histocompatibility complex, class I, G protein-coding HLA-G major histocompatibility complex, class I, G O HLA class I histocompatibility antigen, alpha chain G|HLA G antigen|HLA-G histocompatibility antigen, class I, G|MHC class I antigen G|MHC class Ib antigen|b2 microglobulin|mutant MHC class I antigen|mutant MHC class Ib antigen 20211031 - 9606 3136 HLA-H - HLAHP HGNC:HGNC:4965 6 6p22.1 major histocompatibility complex, class I, H (pseudogene) pseudo HLA-H major histocompatibility complex, class I, H (pseudogene) O - 20210724 - 9606 3137 HLA-J - CDA12|D6S203|HLA-59|HLA-CDA12 HGNC:HGNC:4967|Ensembl:ENSG00000204622 6 6p22.1 major histocompatibility complex, class I, J (pseudogene) pseudo HLA-J major histocompatibility complex, class I, J (pseudogene) O - 20210809 - 9606 3138 HLA-K - HLA-70|HLA70|HLAK HGNC:HGNC:4969|Ensembl:ENSG00000230795 6 6p22.1 major histocompatibility complex, class I, K (pseudogene) pseudo HLA-K major histocompatibility complex, class I, K (pseudogene) O - 20210611 - 9606 3139 HLA-L - HLA-92|HLA92|HLAL HGNC:HGNC:4970|Ensembl:ENSG00000243753 6 6p22.1 major histocompatibility complex, class I, L (pseudogene) pseudo HLA-L major histocompatibility complex, class I, L (pseudogene) O - 20210905 - 9606 3140 MR1 - HLALS MIM:600764|HGNC:HGNC:4975|Ensembl:ENSG00000153029 1 1q25.3 major histocompatibility complex, class I-related protein-coding MR1 major histocompatibility complex, class I-related O major histocompatibility complex class I-related gene protein|MHC class I-like antigen MR-1|MHC class-I related-gene protein|major histocompatibility complex, class I-like sequence 20210905 - 9606 3141 HLCS - HCS MIM:609018|HGNC:HGNC:4976|Ensembl:ENSG00000159267 21 21q22.13 holocarboxylase synthetase protein-coding HLCS holocarboxylase synthetase O biotin--protein ligase|biotin apo-protein ligase|biotin--[acetyl-CoA-carboxylase] ligase|biotin--[methylcrotonoyl-CoA-carboxylase] ligase|biotin--[methylmalonyl-CoA-carboxytransferase] ligase|holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)|holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) 20210708 - 9606 3142 HLX - HB24|HLX1 MIM:142995|HGNC:HGNC:4978|Ensembl:ENSG00000136630 1 1q41 H2.0 like homeobox protein-coding HLX H2.0 like homeobox O H2.0-like homeobox protein|H2.0-like homeo box-1|H2.0-like homeobox 1|homeobox protein HB24|homeobox protein HLX1 20210704 - 9606 3145 HMBS - PBG-D|PBGD|PORC|UPS MIM:609806|HGNC:HGNC:4982|Ensembl:ENSG00000256269 11 11q23.3 hydroxymethylbilane synthase protein-coding HMBS hydroxymethylbilane synthase O porphobilinogen deaminase|porphyria, acute; Chester type|pre-uroporphyrinogen synthase|uroporphyrinogen I synthase|uroporphyrinogen I synthetase 20210906 - 9606 3146 HMGB1 - HMG-1|HMG1|HMG3|SBP-1 MIM:163905|HGNC:HGNC:4983|Ensembl:ENSG00000189403 13 13q12.3 high mobility group box 1 protein-coding HMGB1 high mobility group box 1 O high mobility group protein B1|Amphoterin|Sulfoglucuronyl carbohydrate binding protein|high-mobility group (nonhistone chromosomal) protein 1 20211031 - 9606 3148 HMGB2 - HMG2 MIM:163906|HGNC:HGNC:5000|Ensembl:ENSG00000164104 4 4q34.1 high mobility group box 2 protein-coding HMGB2 high mobility group box 2 O high mobility group protein B2|HMG-2|high mobility group protein 2|high-mobility group (nonhistone chromosomal) protein 2 20210905 - 9606 3149 HMGB3 - HMG-2a|HMG-4|HMG2A|HMG4 MIM:300193|HGNC:HGNC:5004|Ensembl:ENSG00000029993 X Xq28 high mobility group box 3 protein-coding HMGB3 high mobility group box 3 O high mobility group protein B3|high mobility group protein 2a|high-mobility group (nonhistone chromosomal) protein 4 20211003 - 9606 3150 HMGN1 - HMG14 MIM:163920|HGNC:HGNC:4984|Ensembl:ENSG00000205581 21 21q22.2 high mobility group nucleosome binding domain 1 protein-coding HMGN1 high mobility group nucleosome binding domain 1 O non-histone chromosomal protein HMG-14|high mobility group nucleosome-binding domain-containing protein 1|high-mobility group (nonhistone chromosomal) protein 14|high-mobility group nucleosome binding 1|nonhistone chromosomal protein HMG-14 20210709 - 9606 3151 HMGN2 - HMG17 MIM:163910|HGNC:HGNC:4986|Ensembl:ENSG00000198830 1 1p36.11 high mobility group nucleosomal binding domain 2 protein-coding HMGN2 high mobility group nucleosomal binding domain 2 O non-histone chromosomal protein HMG-17|high mobility group nucleosome-binding domain-containing protein 2|high mobility group protein N2|high-mobility group (nonhistone chromosomal) protein 17|nonhistone chromosomal protein HMG-17 20211026 - 9606 3152 HMGN2P11 - 28H|HMG17P1|HMGN2L11 HGNC:HGNC:4990 7 7q21.11 high mobility group nucleosomal binding domain 2 pseudogene 11 pseudo HMGN2P11 high mobility group nucleosomal binding domain 2 pseudogene 11 O high-mobility group (nonhistone chromosomal) protein 17 pseudogene 1|high-mobility group nucleosomal binding domain 2-like 11 20210611 - 9606 3153 HMGN2P12 - 60H|HMG17P2|HMGN2L12 HGNC:HGNC:4991 6 6q21 high mobility group nucleosomal binding domain 2 pseudogene 12 pseudo HMGN2P12 high mobility group nucleosomal binding domain 2 pseudogene 12 O high-mobility group (nonhistone chromosomal) protein 17 pseudogene 2 20210611 - 9606 3155 HMGCL - HL MIM:613898|HGNC:HGNC:5005|Ensembl:ENSG00000117305 1 1p36.11 3-hydroxy-3-methylglutaryl-CoA lyase protein-coding HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase O hydroxymethylglutaryl-CoA lyase, mitochondrial|3-hydroxy-3-methylglutarate-CoA lyase|3-hydroxymethyl-3-methylglutaryl-CoA lyase|3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase|HMG-CoA lyase|hydroxymethylglutaricaciduria|mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase 20210708 - 9606 3156 HMGCR - LDLCQ3 MIM:142910|HGNC:HGNC:5006|Ensembl:ENSG00000113161 5 5q13.3 3-hydroxy-3-methylglutaryl-CoA reductase protein-coding HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase O 3-hydroxy-3-methylglutaryl-Coenzyme A reductase|3-hydroxy-3-methylglutaryl CoA reductase (NADPH)|HMG-CoA reductase|hydroxymethylglutaryl-CoA reductase 20211031 - 9606 3157 HMGCS1 - HMGCS MIM:142940|HGNC:HGNC:5007|Ensembl:ENSG00000112972 5 5p12 3-hydroxy-3-methylglutaryl-CoA synthase 1 protein-coding HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 O hydroxymethylglutaryl-CoA synthase, cytoplasmic|3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase|3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)|3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble) 20210822 - 9606 3158 HMGCS2 - - MIM:600234|HGNC:HGNC:5008|Ensembl:ENSG00000134240 1 1p12 3-hydroxy-3-methylglutaryl-CoA synthase 2 protein-coding HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 O hydroxymethylglutaryl-CoA synthase, mitochondrial|3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)|3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)|HMG-CoA synthase|testicular tissue protein Li 88 20210708 - 9606 3159 HMGA1 - HMG-R|HMGA1A|HMGIY MIM:600701|HGNC:HGNC:5010|Ensembl:ENSG00000137309 6 6p21.31 high mobility group AT-hook 1 protein-coding HMGA1 high mobility group AT-hook 1 O high mobility group protein HMG-I/HMG-Y|high mobility group protein A1|high mobility group protein R|nonhistone chromosomal high-mobility group protein HMG-I/HMG-Y 20210926 - 9606 3161 HMMR - CD168|IHABP|RHAMM MIM:600936|HGNC:HGNC:5012|Ensembl:ENSG00000072571 5 5q34 hyaluronan mediated motility receptor protein-coding HMMR hyaluronan mediated motility receptor O hyaluronan mediated motility receptor|intracellular hyaluronic acid-binding protein|receptor for hyaluronan-mediated motility 20211016 - 9606 3162 HMOX1 - HMOX1D|HO-1|HSP32|bK286B10 MIM:141250|HGNC:HGNC:5013|Ensembl:ENSG00000100292 22 22q12.3 heme oxygenase 1 protein-coding HMOX1 heme oxygenase 1 O heme oxygenase 1|heat shock protein, 32-kD|heme oxygenase (decycling) 1 20211031 - 9606 3163 HMOX2 - HO-2 MIM:141251|HGNC:HGNC:5014|Ensembl:ENSG00000103415 16 16p13.3 heme oxygenase 2 protein-coding HMOX2 heme oxygenase 2 O heme oxygenase 2|heme oxygenase (decycling) 2 20210919 - 9606 3164 NR4A1 - GFRP1|HMR|N10|NAK-1|NGFIB|NP10|NUR77|TR3 MIM:139139|HGNC:HGNC:7980|Ensembl:ENSG00000123358 12 12q13.13 nuclear receptor subfamily 4 group A member 1 protein-coding NR4A1 nuclear receptor subfamily 4 group A member 1 O nuclear receptor subfamily 4 group A member 1|ST-59|TR3 orphan receptor|early response protein NAK1|growth factor-inducible nuclear protein N10|hormone receptor|nerve growth factor IB nuclear receptor variant 1|nuclear hormone receptor NUR/77|orphan nuclear receptor HMR|orphan nuclear receptor TR3|steroid receptor TR3|testicular receptor 3 20211031 - 9606 3166 HMX1 - H6|NKX5-3 MIM:142992|HGNC:HGNC:5017|Ensembl:ENSG00000215612 4 4p16.1 H6 family homeobox 1 protein-coding HMX1 H6 family homeobox 1 O homeobox protein HMX1|H6 homeodomain protein|homeobox protein H6 20210708 - 9606 3167 HMX2 - H6L|Nkx5-2 MIM:600647|HGNC:HGNC:5018|Ensembl:ENSG00000188816 10 10q26.13 H6 family homeobox 2 protein-coding HMX2 H6 family homeobox 2 O homeobox protein HMX2|homeo box (H6 family) 2|homeobox protein H6 family member 2 20210611 - 9606 3169 FOXA1 - HNF3A|TCF3A MIM:602294|HGNC:HGNC:5021|Ensembl:ENSG00000129514 14 14q21.1 forkhead box A1 protein-coding FOXA1 forkhead box A1 O hepatocyte nuclear factor 3-alpha|HNF-3-alpha|HNF-3A|TCF-3A|forkhead box protein A1|transcription factor 3A 20211031 - 9606 3170 FOXA2 - HNF-3-beta|HNF3B|TCF3B MIM:600288|HGNC:HGNC:5022|Ensembl:ENSG00000125798 20 20p11.21 forkhead box A2 protein-coding FOXA2 forkhead box A2 O hepatocyte nuclear factor 3-beta|forkhead box protein A2|hepatic nuclear factor-3-beta|transcription factor 3B 20211003 - 9606 3171 FOXA3 - FKHH3|HNF3G|TCF3G MIM:602295|HGNC:HGNC:5023|Ensembl:ENSG00000170608 19 19q13.32 forkhead box A3 protein-coding FOXA3 forkhead box A3 O hepatocyte nuclear factor 3-gamma|HNF-3-gamma|HNF-3G|TCF-3G|fork head-related protein FKH H3|forkhead box protein A3|transcription factor 3G 20211017 - 9606 3172 HNF4A - FRTS4|HNF4|HNF4a7|HNF4a8|HNF4a9|HNF4alpha|MODY|MODY1|NR2A1|NR2A21|TCF|TCF-14|TCF14 MIM:600281|HGNC:HGNC:5024|Ensembl:ENSG00000101076 20 20q13.12 hepatocyte nuclear factor 4 alpha protein-coding HNF4A hepatocyte nuclear factor 4 alpha O hepatocyte nuclear factor 4-alpha|HNF4alpha10/11/12|hepatic nuclear factor 4 alpha|nuclear receptor subfamily 2 group A member 1|transcription factor 14|transcription factor HNF-4 20211026 - 9606 3174 HNF4G - NR2A2|NR2A3 MIM:605966|HGNC:HGNC:5026|Ensembl:ENSG00000164749 8 8q21.13 hepatocyte nuclear factor 4 gamma protein-coding HNF4G hepatocyte nuclear factor 4 gamma O hepatocyte nuclear factor 4-gamma|HNF-4-gamma|nuclear receptor subfamily 2 group A member 2 20211003 - 9606 3175 ONECUT1 - HNF-6|HNF6|HNF6A MIM:604164|HGNC:HGNC:8138|Ensembl:ENSG00000169856 15 15q21.3 one cut homeobox 1 protein-coding ONECUT1 one cut homeobox 1 O hepatocyte nuclear factor 6|hepatocyte nuclear factor 6, alpha|one cut domain family member 1 20210611 - 9606 3176 HNMT - HMT|HNMT-S1|HNMT-S2|MRT51 MIM:605238|HGNC:HGNC:5028|Ensembl:ENSG00000150540 2 2q22.1 histamine N-methyltransferase protein-coding HNMT histamine N-methyltransferase O histamine N-methyltransferase 20210731 - 9606 3177 SLC29A2 - DER12|ENT2|HNP36 MIM:602110|HGNC:HGNC:11004|Ensembl:ENSG00000174669 11 11q13.2 solute carrier family 29 member 2 protein-coding SLC29A2 solute carrier family 29 member 2 O equilibrative nucleoside transporter 2|36 kDa nucleolar protein HNP36|delayed-early response protein 12|equilibrative NBMPR-insensitive nucleoside transporter|equilibrative nitrobenzylmercaptopurine riboside-insensitive nucleoside transporter|hydrophobic nucleolar protein, 36 kDa|hydrophobic nucleolar protein, 36kD|nucleoside transporter, ei-type|solute carrier family 29 (equilibrative nucleoside transporter), member 2|solute carrier family 29 (nucleoside transporters), member 2 20210708 - 9606 3178 HNRNPA1 - ALS19|ALS20|HNRPA1|HNRPA1L3|IBMPFD3|UP 1|hnRNP A1|hnRNP-A1 MIM:164017|HGNC:HGNC:5031|Ensembl:ENSG00000135486 12 12q13.13 heterogeneous nuclear ribonucleoprotein A1 protein-coding HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 O heterogeneous nuclear ribonucleoprotein A1|epididymis secretory sperm binding protein|helix-destabilizing protein|heterogeneous nuclear ribonucleoprotein A1B protein|heterogeneous nuclear ribonucleoprotein B2 protein|heterogeneous nuclear ribonucleoprotein core protein A1|hnRNP core protein A1-like 3|nuclear ribonucleoprotein particle A1 protein|putative heterogeneous nuclear ribonucleoprotein A1-like 3|single-strand DNA-binding protein UP1|single-strand RNA-binding protein 20211026 - 9606 3181 HNRNPA2B1 - HNRNPA2|HNRNPB1|HNRPA2|HNRPA2B1|HNRPB1|IBMPFD2|RNPA2|SNRPB1 MIM:600124|HGNC:HGNC:5033|Ensembl:ENSG00000122566 7 7p15.2 heterogeneous nuclear ribonucleoprotein A2/B1 protein-coding HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 O heterogeneous nuclear ribonucleoproteins A2/B1|HNRNPA2B1/MYC fusion|epididymis secretory sperm binding protein|hnRNP A2 / hnRNP B1|nuclear ribonucleoprotein particle A2 protein 20211017 - 9606 3182 HNRNPAB - ABBP1|HNRPAB MIM:602688|HGNC:HGNC:5034|Ensembl:ENSG00000197451 5 5q35.3 heterogeneous nuclear ribonucleoprotein A/B protein-coding HNRNPAB heterogeneous nuclear ribonucleoprotein A/B O heterogeneous nuclear ribonucleoprotein A/B|ABBP-1|APOBEC1-binding protein 1|apobec-1 binding protein 1|apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1-binding protein 1|hnRNP A/B|hnRNP type A/B protein 20210905 - 9606 3183 HNRNPC - C1|C2|HNRNP|HNRPC|SNRPC MIM:164020|HGNC:HGNC:5035|Ensembl:ENSG00000092199 14 14q11.2 heterogeneous nuclear ribonucleoprotein C protein-coding HNRNPC heterogeneous nuclear ribonucleoprotein C O heterogeneous nuclear ribonucleoproteins C1/C2|heterogeneous nuclear ribonucleoprotein C (C1/C2)|hnRNP C1/C2|nuclear ribonucleoprotein particle C1 protein|nuclear ribonucleoprotein particle C2 protein 20211031 - 9606 3184 HNRNPD - AUF1|AUF1A|HNRPD|P37|hnRNPD0 MIM:601324|HGNC:HGNC:5036|Ensembl:ENSG00000138668 4 4q21.22 heterogeneous nuclear ribonucleoprotein D protein-coding HNRNPD heterogeneous nuclear ribonucleoprotein D O heterogeneous nuclear ribonucleoprotein D0|ARE-binding protein AUFI, type A|AU-rich element RNA binding protein 1, 37kDa|hnRNP D0 20211017 - 9606 3185 HNRNPF - HNRPF|OK/SW-cl.23|mcs94-1 MIM:601037|HGNC:HGNC:5039|Ensembl:ENSG00000169813 10 10q11.21 heterogeneous nuclear ribonucleoprotein F protein-coding HNRNPF heterogeneous nuclear ribonucleoprotein F O heterogeneous nuclear ribonucleoprotein F|HnRNP F protein|nucleolin-like protein mcs94-1 20211017 - 9606 3186 RBMXP1 - HNRNP-G|HNRPG HGNC:HGNC:9911 6 6p12.3 RBMX pseudogene 1 pseudo RBMXP1 RBMX pseudogene 1 O Heterogeneous nuclear ribonucleoprotein polypeptide G|RNA binding motif protein, X chromosome, pseudogene 1|RNA binding motif protein, X-linked pseudogene 1|heterogeneous nuclear ribonucleoprotein G 20210611 - 9606 3187 HNRNPH1 - HNRPH|HNRPH1|hnRNPH MIM:601035|HGNC:HGNC:5041|Ensembl:ENSG00000169045 5 5q35.3 heterogeneous nuclear ribonucleoprotein H1 protein-coding HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 O heterogeneous nuclear ribonucleoprotein H|epididymis secretory sperm binding protein|heterogeneous nuclear ribonucleoprotein H1 (H) 20211016 - 9606 3188 HNRNPH2 - FTP3|HNRPH'|HNRPH2|MRXSB|NRPH2|hnRNPH' MIM:300610|HGNC:HGNC:5042|Ensembl:ENSG00000126945 X Xq22.1 heterogeneous nuclear ribonucleoprotein H2 protein-coding HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 O heterogeneous nuclear ribonucleoprotein H2|FTP-3|epididymis secretory sperm binding protein|heterogeneous nuclear ribonucleoprotein H-prime|heterogeneous nuclear ribonucleoprotein H2 (H')|hnRNP H'|hnRNP H2 20210906 - 9606 3189 HNRNPH3 - 2H9|HNRPH3 MIM:602324|HGNC:HGNC:5043|Ensembl:ENSG00000096746 10 10q21.3 heterogeneous nuclear ribonucleoprotein H3 protein-coding HNRNPH3 heterogeneous nuclear ribonucleoprotein H3 O heterogeneous nuclear ribonucleoprotein H3|heterogeneous nuclear ribonucleoprotein 2H9|hnRNP 2H9|hnRNP H3 20210905 - 9606 3190 HNRNPK - AUKS|CSBP|HNRPK|TUNP MIM:600712|HGNC:HGNC:5044|Ensembl:ENSG00000165119 9 9q21.32 heterogeneous nuclear ribonucleoprotein K protein-coding HNRNPK heterogeneous nuclear ribonucleoprotein K O heterogeneous nuclear ribonucleoprotein K|dC-stretch binding protein|transformation upregulated nuclear protein 20210905 - 9606 3191 HNRNPL - HNRPL|P/OKcl.14|hnRNP-L MIM:603083|HGNC:HGNC:5045|Ensembl:ENSG00000104824 19 19q13.2 heterogeneous nuclear ribonucleoprotein L protein-coding HNRNPL heterogeneous nuclear ribonucleoprotein L O heterogeneous nuclear ribonucleoprotein L|epididymis secretory sperm binding protein|hnRNP L 20211026 - 9606 3192 HNRNPU - DEE54|EIEE54|GRIP120|HNRNPU-AS1|HNRPU|SAF-A|SAFA|U21.1|hnRNP U|pp120 MIM:602869|HGNC:HGNC:5048|Ensembl:ENSG00000153187 1 1q44 heterogeneous nuclear ribonucleoprotein U protein-coding HNRNPU heterogeneous nuclear ribonucleoprotein U O heterogeneous nuclear ribonucleoprotein U|HNRNPU antisense RNA 1|heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)|nuclear p120 ribonucleoprotein|p120 nuclear protein 20211017 - 9606 3195 TLX1 - HOX11|TCL3 MIM:186770|HGNC:HGNC:5056|Ensembl:ENSG00000107807 10 10q24.31 T cell leukemia homeobox 1 protein-coding TLX1 T cell leukemia homeobox 1 O T-cell leukemia homeobox protein 1|T-cell leukemia/lymphoma protein 3|homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)|homeobox protein Hox-11|proto-oncogene TCL-3 20210711 - 9606 3196 TLX2 - HOX11L1|NCX MIM:604240|HGNC:HGNC:5057|Ensembl:ENSG00000115297 2 2p13.1 T cell leukemia homeobox 2 protein-coding TLX2 T cell leukemia homeobox 2 O T-cell leukemia homeobox protein 2|homeo box 11-like 1|homeobox protein Hox-11L1|neural crest homeobox protein 20210716 - 9606 3197 HOXA@ - HOX1@ HGNC:HGNC:5098 7 7p15.2 homeobox A cluster other HOXA@ homeobox A cluster O homeo box A cluster 20210301 - 9606 3198 HOXA1 - BSAS|HOX1|HOX1F MIM:142955|HGNC:HGNC:5099|Ensembl:ENSG00000105991 7 7p15.2 homeobox A1 protein-coding HOXA1 homeobox A1 O homeobox protein Hox-A1|HOX A1 homeodomain protein|Hox 1.6-like protein|homeo box A1|homeobox 1F|homeobox protein Hox-1F|lab-like protein 20211026 - 9606 3199 HOXA2 - HOX1K|MCOHI MIM:604685|HGNC:HGNC:5103|Ensembl:ENSG00000105996 7 7p15.2 homeobox A2 protein-coding HOXA2 homeobox A2 O homeobox protein Hox-A2|homeobox protein Hox-1K 20210906 - 9606 3200 HOXA3 - HOX1|HOX1E MIM:142954|HGNC:HGNC:5104|Ensembl:ENSG00000105997 7 7p15.2 homeobox A3 protein-coding HOXA3 homeobox A3 O homeobox protein Hox-A3|Hox-1.5-like protein|homeo box 1E|homeo box A3|homeobox protein Hox-1E 20210926 - 9606 3201 HOXA4 - HOX1|HOX1D MIM:142953|HGNC:HGNC:5105|Ensembl:ENSG00000197576 7 7p15.2 homeobox A4 protein-coding HOXA4 homeobox A4 O homeobox protein Hox-A4|Dfd-like protein|Hox-1.4-like protein|homeo box A4|homeobox protein Hox-1.4|homeobox protein Hox-1D 20210919 - 9606 3202 HOXA5 - HOX1|HOX1.3|HOX1C MIM:142952|HGNC:HGNC:5106|Ensembl:ENSG00000106004 7 7p15.2 homeobox A5 protein-coding HOXA5 homeobox A5 O homeobox protein Hox-A5|homeo box 1C|homeo box A5|homeobox protein HOXA5|homeobox protein Hox-1C 20211026 - 9606 3203 HOXA6 - HOX1|HOX1.2|HOX1B MIM:142951|HGNC:HGNC:5107|Ensembl:ENSG00000106006 7 7p15.2 homeobox A6 protein-coding HOXA6 homeobox A6 O homeobox protein Hox-A6|homeo box 1B|homeo box A6|homeobox protein HOXA6|homeobox protein Hox-1B 20210802 - 9606 3204 HOXA7 - ANTP|HOX1|HOX1.1|HOX1A MIM:142950|HGNC:HGNC:5108|Ensembl:ENSG00000122592 7 7p15.2 homeobox A7 protein-coding HOXA7 homeobox A7 O homeobox protein Hox-A7|homeo box A7|homeobox protein HOX-1A|homeobox protein Hox 1.1 20210905 - 9606 3205 HOXA9 - ABD-B|HOX1|HOX1.7|HOX1G MIM:142956|HGNC:HGNC:5109|Ensembl:ENSG00000078399 7 7p15.2 homeobox A9 protein-coding HOXA9 homeobox A9 O homeobox protein Hox-A9|homeobox protein Hox-1G|homeodomain protein HOXA9 20211031 - 9606 3206 HOXA10 - HOX1|HOX1.8|HOX1H|PL MIM:142957|HGNC:HGNC:5100|Ensembl:ENSG00000253293 7 7p15.2 homeobox A10 protein-coding HOXA10 homeobox A10 O homeobox protein Hox-A10|homeo box A10|homeobox protein 1H|homeobox protein HOXA10|homeobox protein Hox-1.8|homeobox protein Hox-1H 20211026 - 9606 3207 HOXA11 - HOX1|HOX1I|RUSAT1 MIM:142958|HGNC:HGNC:5101|Ensembl:ENSG00000005073 7 7p15.2 homeobox A11 protein-coding HOXA11 homeobox A11 O homeobox protein Hox-A11|homeo box 1I|homeobox protein HOXA11|homeobox protein Hox-1I 20210705 - 9606 3208 HPCA - BDR2|DYT2 MIM:142622|HGNC:HGNC:5144|Ensembl:ENSG00000121905 1 1p35.1 hippocalcin protein-coding HPCA hippocalcin O neuron-specific calcium-binding protein hippocalcin|calcium-binding protein BDR-2|dystonia 2, torsion (autosomal recessive) 20210611 - 9606 3209 HOXA13 - HOX1|HOX1J MIM:142959|HGNC:HGNC:5102|Ensembl:ENSG00000106031 7 7p15.2 homeobox A13 protein-coding HOXA13 homeobox A13 O homeobox protein Hox-A13|homeo box 1J|homeo box A13|homeobox protein HOXA13|homeobox protein Hox-1J|transcription factor HOXA13 20211017 - 9606 3210 HOXB@ - HOX2@ HGNC:HGNC:5110 17 17q21.32 homeobox B cluster other HOXB@ homeobox B cluster O homeo box B cluster 20190324 - 9606 3211 HOXB1 - HCFP3|HOX2|HOX2I|Hox-2.9 MIM:142968|HGNC:HGNC:5111|Ensembl:ENSG00000120094 17 17q21.32 homeobox B1 protein-coding HOXB1 homeobox B1 O homeobox protein Hox-B1|homeobox protein Hox-2I 20210611 - 9606 3212 HOXB2 - HOX2|HOX2H|Hox-2.8|K8 MIM:142967|HGNC:HGNC:5113|Ensembl:ENSG00000173917 17 17q21.32 homeobox B2 protein-coding HOXB2 homeobox B2 O homeobox protein Hox-B2|K8 home protein|homeo box 2H|homeo box B2|homeobox protein Hox-2.8|homeobox protein Hox-2H 20210912 - 9606 3213 HOXB3 - HOX2|HOX2G|Hox-2.7 MIM:142966|HGNC:HGNC:5114|Ensembl:ENSG00000120093 17 17q21.32 homeobox B3 protein-coding HOXB3 homeobox B3 O homeobox protein Hox-B3|homeo box 2G|homeobox protein Hox-2.7|homeobox protein Hox-2G 20210816 - 9606 3214 HOXB4 - HOX-2.6|HOX2|HOX2F MIM:142965|HGNC:HGNC:5115|Ensembl:ENSG00000182742 17 17q21.32 homeobox B4 protein-coding HOXB4 homeobox B4 O homeobox protein Hox-B4|homeo box 2F|homeo box B4|homeobox protein Hox-2.6|homeobox protein Hox-2F 20211017 - 9606 3215 HOXB5 - HHO.C10|HOX2|HOX2A|HU-1|Hox2.1 MIM:142960|HGNC:HGNC:5116|Ensembl:ENSG00000120075 17 17q21.32 homeobox B5 protein-coding HOXB5 homeobox B5 O homeobox protein Hox-B5|homeo box 2A|homeo box B5|homeobox protein HHO.C10|homeobox protein Hox-2A|homeobox protein Hu-1 20210802 - 9606 3216 HOXB6 - HOX2|HOX2B|HU-2|Hox-2.2 MIM:142961|HGNC:HGNC:5117|Ensembl:ENSG00000108511 17 17q21.32 homeobox B6 protein-coding HOXB6 homeobox B6 O homeobox protein Hox-B6|homeo box 2B|homeo box B6|homeobox protein Hox-2.2|homeobox protein Hox-2B|homeobox protein Hu-2 20211003 - 9606 3217 HOXB7 - HHO.C1|HOX2|HOX2C|Hox-2.3 MIM:142962|HGNC:HGNC:5118|Ensembl:ENSG00000260027 17 17q21.32 homeobox B7 protein-coding HOXB7 homeobox B7 O homeobox protein Hox-B7|homeo box 2C|homeo box B7|homeo box c1 protein|homeobox protein HHO.C1|homeobox protein Hox-2C 20210905 - 9606 3218 HOXB8 - HOX2|HOX2D|Hox-2.4 MIM:142963|HGNC:HGNC:5119|Ensembl:ENSG00000120068 17 17q21.32 homeobox B8 protein-coding HOXB8 homeobox B8 O homeobox protein Hox-B8|homeo box 2D|homeo box B8|homeobox protein Hox-2.4|homeobox protein Hox-2D 20210926 - 9606 3219 HOXB9 - HOX-2.5|HOX2|HOX2E MIM:142964|HGNC:HGNC:5120|Ensembl:ENSG00000170689 17 17q21.32 homeobox B9 protein-coding HOXB9 homeobox B9 O homeobox protein Hox-B9|homeo box 2E|homeo box B9|homeobox protein Hox-2.5|homeobox protein Hox-2E 20211017 - 9606 3220 HOXC@ - HOX3@ HGNC:HGNC:5121 12 12q12-q13 homeobox C cluster other HOXC@ homeobox C cluster O homeo box C cluster 20190324 - 9606 3221 HOXC4 - HOX3|HOX3E|cp19 MIM:142974|HGNC:HGNC:5126|Ensembl:ENSG00000198353 12 12q13.13 homeobox C4 protein-coding HOXC4 homeobox C4 O homeobox protein Hox-C4|homeo box 3E|homeobox protein CP19|homeobox protein Hox-3E 20210611 - 9606 3222 HOXC5 - CP11|HOX3|HOX3D MIM:142973|HGNC:HGNC:5127|Ensembl:ENSG00000172789|Ensembl:ENSG00000273046 12 12q13.13 homeobox C5 protein-coding HOXC5 homeobox C5 O homeobox protein Hox-C5|homeo box C5|homeobox protein CP11|homeobox protein Hox-3D 20210611 - 9606 3223 HOXC6 - CP25|HHO.C8|HOX3|HOX3C MIM:142972|HGNC:HGNC:5128|Ensembl:ENSG00000197757 12 12q13.13 homeobox C6 protein-coding HOXC6 homeobox C6 O homeobox protein Hox-C6|homeo box 3C|homeo box C8 protein|homeobox protein CP25|homeobox protein HHO.C8|homeobox protein Hox-3C 20211026 - 9606 3224 HOXC8 - HOX3|HOX3A MIM:142970|HGNC:HGNC:5129|Ensembl:ENSG00000037965 12 12q13.13 homeobox C8 protein-coding HOXC8 homeobox C8 O homeobox protein Hox-C8|Hox-3.1, mouse, homolog of|homeo box 3A|homeo box C8|homeobox protein Hox-3A 20210912 - 9606 3225 HOXC9 - HOX3|HOX3B MIM:142971|HGNC:HGNC:5130|Ensembl:ENSG00000180806 12 12q13.13 homeobox C9 protein-coding HOXC9 homeobox C9 O homeobox protein Hox-C9|homeo box C9|homeobox protein Hox-3B 20210919 - 9606 3226 HOXC10 - HOX3I MIM:605560|HGNC:HGNC:5122|Ensembl:ENSG00000180818 12 12q13.13 homeobox C10 protein-coding HOXC10 homeobox C10 O homeobox protein Hox-C10|homeo box C10|homeobox protein Hox-3I|homeoprotein C10 20211017 - 9606 3227 HOXC11 - HOX3H MIM:605559|HGNC:HGNC:5123|Ensembl:ENSG00000123388 12 12q13.13 homeobox C11 protein-coding HOXC11 homeobox C11 O homeobox protein Hox-C11|homeo box C11|homeobox protein Hox-3H 20210926 - 9606 3228 HOXC12 - HOC3F|HOX3|HOX3F MIM:142975|HGNC:HGNC:5124|Ensembl:ENSG00000123407 12 12q13.13 homeobox C12 protein-coding HOXC12 homeobox C12 O homeobox protein Hox-C12|homeo box 3F|homeo box C12|homeobox protein Hox-3F 20210708 - 9606 3229 HOXC13 - ECTD9|HOX3|HOX3G MIM:142976|HGNC:HGNC:5125|Ensembl:ENSG00000123364 12 12q13.13 homeobox C13 protein-coding HOXC13 homeobox C13 O homeobox protein Hox-C13|NUP98/HOXC13|homeo box 3G|homeobox protein Hox-3G 20210919 - 9606 3230 HOXD@ - HOX4@ HGNC:HGNC:5131 2 2q31.1 homeobox D cluster other HOXD@ homeobox D cluster O homeo box D cluster 20190324 - 9606 3231 HOXD1 - HOX4|HOX4G|Hox-4.7 MIM:142987|HGNC:HGNC:5132|Ensembl:ENSG00000128645 2 2q31.1 homeobox D1 protein-coding HOXD1 homeobox D1 O homeobox protein Hox-D1|homeo box 4G|homeo box D1|homeobox protein Hox-GG 20210611 - 9606 3232 HOXD3 - HOX1D|HOX4|HOX4A|Hox-4.1 MIM:142980|HGNC:HGNC:5137|Ensembl:ENSG00000128652 2 2q31.1 homeobox D3 protein-coding HOXD3 homeobox D3 O homeobox protein Hox-D3|Hox-4.1, mouse, homolog of|homeo box D3|homeobox protein Hox-4A 20211009 - 9606 3233 HOXD4 - HHO.C13|HOX-5.1|HOX4|HOX4B|Hox-4.2 MIM:142981|HGNC:HGNC:5138|Ensembl:ENSG00000170166 2 2q31.1 homeobox D4 protein-coding HOXD4 homeobox D4 O homeobox protein Hox-D4|Hox-4.2, mouse, homolog of homeo box X|homeobox protein HHO.C13|homeobox protein Hox-4B|homeobox protein Hox-5.1 20210611 - 9606 3234 HOXD8 - HOX4|HOX4E|HOX5.4 MIM:142985|HGNC:HGNC:5139|Ensembl:ENSG00000175879 2 2q31.1 homeobox D8 protein-coding HOXD8 homeobox D8 O homeobox protein Hox-D8|Hox-4.5|homeo box 4E|homeo box D8|homeobox protein 5.4|homeobox protein Hox-4E|homeobox protein Hox-5.4 20210611 - 9606 3235 HOXD9 - HOX4|HOX4C|Hox-4.3|Hox-5.2 MIM:142982|HGNC:HGNC:5140|Ensembl:ENSG00000128709 2 2q31.1 homeobox D9 protein-coding HOXD9 homeobox D9 O homeobox protein Hox-D9|Hox-4.3, mouse, homolog of|homeo box D9|homeobox protein Hox-4C|homeobox protein Hox-5.2 20210822 - 9606 3236 HOXD10 - HOX4|HOX4D|HOX4E|Hox-4.4 MIM:142984|HGNC:HGNC:5133|Ensembl:ENSG00000128710 2 2q31.1 homeobox D10 protein-coding HOXD10 homeobox D10 O homeobox protein Hox-D10|homeo box 4D|homeo box D10|homeobox protein Hox-4D|homeobox protein Hox-4E 20210611 - 9606 3237 HOXD11 - HOX4|HOX4F MIM:142986|HGNC:HGNC:5134|Ensembl:ENSG00000128713 2 2q31.1 homeobox D11 protein-coding HOXD11 homeobox D11 O homeobox protein Hox-D11|Hox-4.6, mouse, homolog of|homeo box 4F|homeo box D11|homeobox protein Hox-4F 20210611 - 9606 3238 HOXD12 - HOX4H MIM:142988|HGNC:HGNC:5135|Ensembl:ENSG00000170178 2 2q31.1 homeobox D12 protein-coding HOXD12 homeobox D12 O homeobox protein Hox-D12|Hox-4.7, mouse, homolog of|homeo box D12|homeobox protein Hox-4H 20210704 - 9606 3239 HOXD13 - BDE|BDSD|HOX4I|SPD|SPD1 MIM:142989|HGNC:HGNC:5136|Ensembl:ENSG00000128714 2 2q31.1 homeobox D13 protein-coding HOXD13 homeobox D13 O homeobox protein Hox-D13|homeo box 4I|homeo box D13|homeobox protein Hox-4I|synpolydactyly 20210912 - 9606 3240 HP - BP|HP2ALPHA2|HPA1S MIM:140100|HGNC:HGNC:5141|Ensembl:ENSG00000257017 16 16q22.2 haptoglobin protein-coding HP haptoglobin O haptoglobin|binding peptide|haptoglobin alpha(1S)-beta|haptoglobin alpha(2FS)-beta|haptoglobin, alpha polypeptide|haptoglobin, beta polypeptide|zonulin 20211031 - 9606 3241 HPCAL1 - BDR1|HLP2|VILIP-3 MIM:600207|HGNC:HGNC:5145|Ensembl:ENSG00000115756 2 2p25.1 hippocalcin like 1 protein-coding HPCAL1 hippocalcin like 1 O hippocalcin-like protein 1|calcium-binding protein BDR-1|visinin-like protein 3 20210611 - 9606 3242 HPD - 4-HPPD|4HPPD|GLOD3|HPPDASE|PPD MIM:609695|HGNC:HGNC:5147|Ensembl:ENSG00000158104 12 12q24.31 4-hydroxyphenylpyruvate dioxygenase protein-coding HPD 4-hydroxyphenylpyruvate dioxygenase O 4-hydroxyphenylpyruvate dioxygenase|4-hydroxyphenylpyruvic acid oxidase|glyoxalase domain containing 3 20210926 - 9606 3244 HPE1 - HPEC MIM:236100 21 21q22.3 holoprosencephaly 1, alobar unknown - - - - 20191002 - 9606 3247 HPFH2 - - MIM:142335 7 7q36 hereditary persistence of fetal hemoglobin, heterocellular, Indian type unknown - - - - 20191002 - 9606 3248 HPGD - 15-PGDH|PGDH|PGDH1|PHOAR1|SDR36C1 MIM:601688|HGNC:HGNC:5154|Ensembl:ENSG00000164120 4 4q34.1 15-hydroxyprostaglandin dehydrogenase protein-coding HPGD 15-hydroxyprostaglandin dehydrogenase O 15-hydroxyprostaglandin dehydrogenase [NAD(+)]|15-hydroxyprostaglandin dehydrogenase (NAD(+))|NAD+-dependent 15-hydroxyprostaglandin dehydrogenase|hydroxyprostaglandin dehydrogenase 15-(NAD)|prostaglandin dehydrogenase 1|short chain dehydrogenase/reductase family 36C member 1 20210708 - 9606 3249 HPN - TMPRSS1 MIM:142440|HGNC:HGNC:5155|Ensembl:ENSG00000105707 19 19q13.11 hepsin protein-coding HPN hepsin O serine protease hepsin|testicular tissue protein Li 85|transmembrane protease serine 1 20211003 - 9606 3250 HPR - A-259H10.2|HP MIM:140210|HGNC:HGNC:5156|Ensembl:ENSG00000261701 16 16q22.2 haptoglobin-related protein protein-coding HPR haptoglobin-related protein O haptoglobin-related protein|Haptoglobin-related locus 20210708 - 9606 3251 HPRT1 - HGPRT|HPRT MIM:308000|HGNC:HGNC:5157|Ensembl:ENSG00000165704 X Xq26.2-q26.3 hypoxanthine phosphoribosyltransferase 1 protein-coding HPRT1 hypoxanthine phosphoribosyltransferase 1 O hypoxanthine-guanine phosphoribosyltransferase|HGPRTase|hypoxanthine-guanine phosphoribosyltransferase 1|testicular tissue protein Li 89 20211028 - 9606 3254 HPRT1P2 - HPRTP2 HGNC:HGNC:5160 5 5p13.3 hypoxanthine phosphoribosyltransferase 1 pseudogene 2 pseudo HPRT1P2 hypoxanthine phosphoribosyltransferase 1 pseudogene 2 O hypoxanthine phosphoribosyltransferase pseudogene 2 20210611 - 9606 3255 HPRT1P3 - HPRTP3|HPRTP4 HGNC:HGNC:5161|Ensembl:ENSG00000256752 11 11q21 hypoxanthine phosphoribosyltransferase 1 pseudogene 3 pseudo HPRT1P3 hypoxanthine phosphoribosyltransferase 1 pseudogene 3 O hypoxanthine phosphoribosyltransferase pseudogene 3|hypoxanthine phosphoribosyltransferase pseudogene 4 20210611 - 9606 3257 HPS1 - BLOC3S1|HPS MIM:604982|HGNC:HGNC:5163|Ensembl:ENSG00000107521 10 10q24.2 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 protein-coding HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 O Hermansky-Pudlak syndrome 1 protein 20211016 - 9606 3258 HPT - HPTX|HYPX MIM:307700 X Xq27 hypoparathyroidism unknown - - - - 20191002 - 9606 3259 HPV6AI1 - - MIM:604461|HGNC:HGNC:5168 14 14q21.1 human papillomavirus (type 6a) integration site 1 other HPV6AI1 human papillomavirus (type 6a) integration site 1 O - 20190324 - 9606 3260 HPV18I1 - D8S37|HPV18I MIM:167959|HGNC:HGNC:5166 8 8q24 human papillomavirus (type 18) integration site 1 other HPV18I1 human papillomavirus (type 18) integration site 1 O human papilloma virus (type 18) integration site 1 20190324 - 9606 3261 HPV18I2 - PAL2|pal2A|pal2B MIM:167960|HGNC:HGNC:5167 12 12q13 human papillomavirus (type 18) integration site 2 other HPV18I2 human papillomavirus (type 18) integration site 2 O papillomavirus-associated locus 2 20190324 - 9606 3263 HPX - HX MIM:142290|HGNC:HGNC:5171|Ensembl:ENSG00000110169 11 11p15.4 hemopexin protein-coding HPX hemopexin O hemopexin|beta-1B-glycoprotein|epididymis secretory sperm binding protein 20210708 - 9606 3265 HRAS - C-BAS/HAS|C-H-RAS|C-HA-RAS1|CTLO|H-RASIDX|HAMSV|HRAS1|RASH1|p21ras MIM:190020|HGNC:HGNC:5173|Ensembl:ENSG00000174775 11 11p15.5 HRas proto-oncogene, GTPase protein-coding HRAS HRas proto-oncogene, GTPase O GTPase HRas|GTP- and GDP-binding peptide B|Ha-Ras1 proto-oncoprotein|Harvey rat sarcoma viral oncogene homolog|Harvey rat sarcoma viral oncoprotein|Ras family small GTP binding protein H-Ras|c-has/bas p21 protein|p19 H-RasIDX protein|transformation gene: oncogene HAMSV|transforming protein p21|v-Ha-ras Harvey rat sarcoma viral oncogene homolog 20211106 - 9606 3266 ERAS - HRAS2|HRASP MIM:300437|HGNC:HGNC:5174|Ensembl:ENSG00000187682 X Xp11.23 ES cell expressed Ras protein-coding ERAS ES cell expressed Ras O GTPase ERas|E-Ras|embryonic stem cell-expressed Ras|small GTPase protein E-Ras|v-Ha-ras Harvey rat sarcoma viral oncogene homolog 2|v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene 20210611 - 9606 3267 AGFG1 - HRB|RAB|RIP MIM:600862|HGNC:HGNC:5175|Ensembl:ENSG00000173744 2 2q36.3 ArfGAP with FG repeats 1 protein-coding AGFG1 ArfGAP with FG repeats 1 O arf-GAP domain and FG repeat-containing protein 1|HIV-1 Rev-binding protein|Rab, Rev/Rex activation domain-binding protein|arf-GAP domain and FG repeats-containing protein 1|hRIP, Rev interacting protein|nucleoporin-like protein RIP|rev-interacting protein|rev/Rex activation domain-binding protein 20210808 - 9606 3268 AGFG2 - HRBL|RABR MIM:604019|HGNC:HGNC:5177|Ensembl:ENSG00000106351 7 7q22.1 ArfGAP with FG repeats 2 protein-coding AGFG2 ArfGAP with FG repeats 2 O arf-GAP domain and FG repeat-containing protein 2|HIV-1 Rev-binding protein-like protein|Rev/Rex activation domain binding protein-related|arf-GAP domain and FG repeats-containing protein 2|nucleoporin|rev/Rex activation domain-binding protein related 20210808 - 9606 3269 HRH1 - H1-R|H1R|HH1R|hisH1 MIM:600167|HGNC:HGNC:5182|Ensembl:ENSG00000196639 3 3p25.3 histamine receptor H1 protein-coding HRH1 histamine receptor H1 O histamine H1 receptor|histamine receptor, subclass H1 20211031 - 9606 3270 HRC - - MIM:142705|HGNC:HGNC:5178|Ensembl:ENSG00000130528 19 19q13.33 histidine rich calcium binding protein protein-coding HRC histidine rich calcium binding protein O sarcoplasmic reticulum histidine-rich calcium-binding protein 20210708 - 9606 3272 HRES1 - HRES-1|HRES-1/p28 MIM:143025|HGNC:HGNC:5180 1 1q42 HTLV-1 related endogenous sequence pseudo HRES1 HTLV-1 related endogenous sequence O - 20210516 - 9606 3273 HRG - HPRG|HRGP|THPH11 MIM:142640|HGNC:HGNC:5181|Ensembl:ENSG00000113905 3 3q27.3 histidine rich glycoprotein protein-coding HRG histidine rich glycoprotein O histidine-rich glycoprotein|histidine-proline-rich glycoprotein 20210726 - 9606 3274 HRH2 - H2R|HH2R MIM:142703|HGNC:HGNC:5183|Ensembl:ENSG00000113749 5 5q35.2 histamine receptor H2 protein-coding HRH2 histamine receptor H2 O histamine H2 receptor|gastric receptor 1|gastric receptor I 20210708 - 9606 3275 PRMT2 - HRMT1L1 MIM:601961|HGNC:HGNC:5186|Ensembl:ENSG00000160310 21 21q22.3 protein arginine methyltransferase 2 protein-coding PRMT2 protein arginine methyltransferase 2 O protein arginine N-methyltransferase 2|HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1|HMT1 hnRNP methyltransferase-like 1|PRMT2 alpha|PRMT2 beta|PRMT2 gamma|histone-arginine N-methyltransferase PRMT2 20210905 - 9606 3276 PRMT1 - ANM1|HCP1|HRMT1L2|IR1B4 MIM:602950|HGNC:HGNC:5187|Ensembl:ENSG00000126457 19 19q13.33 protein arginine methyltransferase 1 protein-coding PRMT1 protein arginine methyltransferase 1 O protein arginine N-methyltransferase 1|HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2|heterogeneous nuclear ribonucleoprotein methyltransferase 1-like 2|histone-arginine N-methyltransferase PRMT1|interferon receptor 1-bound protein 4 20211003 - 9606 3280 HES1 - HES-1|HHL|HRY|bHLHb39 MIM:139605|HGNC:HGNC:5192|Ensembl:ENSG00000114315 3 3q29 hes family bHLH transcription factor 1 protein-coding HES1 hes family bHLH transcription factor 1 O transcription factor HES-1|class B basic helix-loop-helix protein 39|hairy homolog|hairy-like protein 20211031 - 9606 3281 HSBP1 - NPC-A-13 MIM:604553|HGNC:HGNC:5203|Ensembl:ENSG00000230989 16 16q23.3 heat shock factor binding protein 1 protein-coding HSBP1 heat shock factor binding protein 1 O heat shock factor-binding protein 1|nasopharyngeal carcinoma-associated antigen 13 20210709 - 9606 3283 HSD3B1 - 3BETAHSD|HSD3B|HSDB3|HSDB3A|SDR11E1 MIM:109715|HGNC:HGNC:5217|Ensembl:ENSG00000203857 1 1p12 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 protein-coding HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 O 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1|3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I|3-beta-HSD I|3-beta-hydroxy-5-ene steroid dehydrogenase|3-beta-hydroxy-Delta(5)-steroid dehydrogenase|3-beta-hydroxysteroid 3-dehydrogenase|delta-5-3-ketosteroid isomerase|dihydrotestosterone oxidoreductase|progesterone reductase|short chain dehydrogenase/reductase family 11E, member 1|steroid Delta-isomerase|trophoblast antigen FDO161G 20210708 - 9606 3284 HSD3B2 - HSD3B|HSDB|SDR11E2 MIM:613890|HGNC:HGNC:5218|Ensembl:ENSG00000203859 1 1p12 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 protein-coding HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 O 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2|3 beta-HSD type II|3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II|3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II|3-beta-HSD II|3-beta-HSD adrenal and gonadal type|3-beta-hydroxy-5-ene steroid dehydrogenase|3-beta-hydroxy-Delta(5)-steroid dehydrogenase|delta 5-delta 4-isomerase type II|progesterone reductase|short chain dehydrogenase/reductase family 11E, member 2 20210708 - 9606 3290 HSD11B1 - 11-DH|11-beta-HSD1|CORTRD2|HDL|HSD11|HSD11B|HSD11L|SDR26C1 MIM:600713|HGNC:HGNC:5208|Ensembl:ENSG00000117594 1 1q32.2 hydroxysteroid 11-beta dehydrogenase 1 protein-coding HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 O corticosteroid 11-beta-dehydrogenase isozyme 1|short chain dehydrogenase/reductase family 26C member 1 20211031 - 9606 3291 HSD11B2 - AME|AME1|HSD11K|HSD2|SDR9C3 MIM:614232|HGNC:HGNC:5209|Ensembl:ENSG00000176387 16 16q22.1 hydroxysteroid 11-beta dehydrogenase 2 protein-coding HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 O corticosteroid 11-beta-dehydrogenase isozyme 2|-HSD11 type II|11-DH2|11-HSD type II|11-beta-HSD type II|11-beta-HSD2|11-beta-hydroxysteroid dehydrogenase type 2|11-beta-hydroxysteroid dehydrogenase type II|NAD-dependent 11-beta-hydroxysteroid dehydrogenase|short chain dehydrogenase/reductase family 9C member 3 20210926 - 9606 3292 HSD17B1 - 17-beta-HSD|20-alpha-HSD|E2DH|EDH17B2|EDHB17|HSD17|SDR28C1 MIM:109684|HGNC:HGNC:5210|Ensembl:ENSG00000108786 17 17q21.2 hydroxysteroid 17-beta dehydrogenase 1 protein-coding HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 O 17-beta-hydroxysteroid dehydrogenase type 1|17-beta-HSD 1|20 alpha-hydroxysteroid dehydrogenase|estradiol 17-beta-dehydrogenase 1|placental 17-beta-hydroxysteroid dehydrogenase|short chain dehydrogenase/reductase family 28C member 1|short chain dehydrogenase/reductase family 28CE, member 1 20210905 - 9606 3293 HSD17B3 - EDH17B3|SDR12C2 MIM:605573|HGNC:HGNC:5212|Ensembl:ENSG00000130948 9 9q22.32 hydroxysteroid 17-beta dehydrogenase 3 protein-coding HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 O testosterone 17-beta-dehydrogenase 3|17-beta-HSD 3|17-beta-HSD3|17-beta-hydroxysteroid dehydrogenase type 3|estradiol 17-beta-dehydrogenase 2|hydroxysteroid dehydrogenase 3|short chain dehydrogenase/reductase family 12C member 2|testicular 17-beta-hydroxysteroid dehydrogenase 20210906 - 9606 3294 HSD17B2 - EDH17B2|HSD17|SDR9C2 MIM:109685|HGNC:HGNC:5211|Ensembl:ENSG00000086696 16 16q23.3 hydroxysteroid 17-beta dehydrogenase 2 protein-coding HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 O 17-beta-hydroxysteroid dehydrogenase type 2|17-beta-HSD 2|20 alpha-hydroxysteroid dehydrogenase|20-alpha-HSD|E2DH|estradiol 17-beta-dehydrogenase 2|microsomal 17-beta-hydroxysteroid dehydrogenase|short chain dehydrogenase/reductase family 9C member 2|testosterone 17-beta-dehydrogenase 20210708 - 9606 3295 HSD17B4 - DBP|MFE-2|MFP-2|MPF-2|PRLTS1|SDR8C1 MIM:601860|HGNC:HGNC:5213|Ensembl:ENSG00000133835 5 5q23.1 hydroxysteroid 17-beta dehydrogenase 4 protein-coding HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 O peroxisomal multifunctional enzyme type 2|17-beta-HSD 4|17-beta-HSD IV|17-beta-hydroxysteroid dehydrogenase 4|17beta-estradiol dehydrogenase type IV|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase|D-3-hydroxyacyl-CoA dehydratase|D-bifunctional protein, peroxisomal|beta-hydroxyacyl dehydrogenase|beta-keto-reductase|epididymis secretory sperm binding protein|hydroxysteroid dehydrogenase 4|multifunctional protein 2|peroxisomal multifunctional protein 2|short chain dehydrogenase/reductase family 8C member 1 20210919 - 9606 3297 HSF1 - HSTF1 MIM:140580|HGNC:HGNC:5224|Ensembl:ENSG00000185122 8 8q24.3 heat shock transcription factor 1 protein-coding HSF1 heat shock transcription factor 1 O heat shock factor protein 1 20211017 - 9606 3298 HSF2 - HSF 2|HSTF 2 MIM:140581|HGNC:HGNC:5225|Ensembl:ENSG00000025156 6 6q22.31 heat shock transcription factor 2 protein-coding HSF2 heat shock transcription factor 2 O heat shock factor protein 2 20210705 - 9606 3299 HSF4 - CTM|CTRCT5 MIM:602438|HGNC:HGNC:5227|Ensembl:ENSG00000102878 16 16q22.1 heat shock transcription factor 4 protein-coding HSF4 heat shock transcription factor 4 O heat shock factor protein 4|HSF 4|HSTF 4|hHSF4 20210708 - 9606 3300 DNAJB2 - CMT2T|DSMA5|HSJ-1|HSJ1|HSPF3 MIM:604139|HGNC:HGNC:5228|Ensembl:ENSG00000135924 2 2q35 DnaJ heat shock protein family (Hsp40) member B2 protein-coding DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 O dnaJ homolog subfamily B member 2|DnaJ (Hsp40) homolog, subfamily B, member 2|dnaJ protein homolog 1|heat shock 40 kDa protein 3|heat shock protein J1|heat shock protein, neuronal DNAJ-like 1 20210905 - 9606 3301 DNAJA1 - DJ-2|DjA1|HDJ2|HSDJ|HSJ-2|HSJ2|HSPF4|NEDD7|hDJ-2 MIM:602837|HGNC:HGNC:5229|Ensembl:ENSG00000086061 9 9p21.1 DnaJ heat shock protein family (Hsp40) member A1 protein-coding DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 O dnaJ homolog subfamily A member 1|DnaJ (Hsp40) homolog, subfamily A, member 1|dnaJ protein homolog 2|heat shock 40 kDa protein 4|heat shock protein J2|heat shock protein, DNAJ-like 2|human DnaJ protein 2|neural precursor cell expressed, developmentally down-regulated 7 20211028 - 9606 3303 HSPA1A - HEL-S-103|HSP70-1|HSP70-1A|HSP70-2|HSP70.1|HSP70.2|HSP70I|HSP72|HSPA1 MIM:140550|HGNC:HGNC:5232|Ensembl:ENSG00000204389 6 6p21.33 heat shock protein family A (Hsp70) member 1A protein-coding HSPA1A heat shock protein family A (Hsp70) member 1A O heat shock 70 kDa protein 1A|HSP70-1/HSP70-2|HSP70.1/HSP70.2|Heat shock 70 kDa protein 1B|Heat shock 70 kDa protein 2|dnaK-type molecular chaperone HSP70-1|epididymis secretory protein Li 103|epididymis secretory sperm binding protein|heat shock 70 kDa protein 1|heat shock 70 kDa protein 1/2|heat shock 70 kDa protein 1A/1B|heat shock 70kD protein 1A|heat shock 70kDa protein 1A|heat shock-induced protein 20210906 - 9606 3304 HSPA1B - HSP70-1|HSP70-1B|HSP70-2|HSP70.1|HSP70.2|HSP72|HSPA1|HSX70 MIM:603012|HGNC:HGNC:5233|Ensembl:ENSG00000204388 6 6p21.33 heat shock protein family A (Hsp70) member 1B protein-coding HSPA1B heat shock protein family A (Hsp70) member 1B O heat shock 70 kDa protein 1B|HSP70-1/HSP70-2|HSP70.1/HSP70.2|Heat shock 70 kDa protein 1|Heat shock 70 kDa protein 1A|heat shock 70 kDa protein 1/2|heat shock 70 kDa protein 1A/1B|heat shock 70 kDa protein 2|heat shock 70kD protein 1B|heat shock 70kDa protein 1B 20210905 - 9606 3305 HSPA1L - HSP70-1L|HSP70-HOM|HSP70T|hum70t MIM:140559|HGNC:HGNC:5234|Ensembl:ENSG00000204390 6 6p21.33 heat shock protein family A (Hsp70) member 1 like protein-coding HSPA1L heat shock protein family A (Hsp70) member 1 like O heat shock 70 kDa protein 1-like|epididymis secretory sperm binding protein|heat shock 10kDa protein 1-like|heat shock 70 kDa protein 1-Hom|heat shock 70 kDa protein 1L|heat shock 70kD protein-like 1|heat shock 70kDa protein 1-like 20210905 - 9606 3306 HSPA2 - HSP70-2|HSP70-3 MIM:140560|HGNC:HGNC:5235|Ensembl:ENSG00000126803 14 14q23.3 heat shock protein family A (Hsp70) member 2 protein-coding HSPA2 heat shock protein family A (Hsp70) member 2 O heat shock-related 70 kDa protein 2|epididymis secretory sperm binding protein|heat shock 70kD protein 2|heat shock 70kDa protein 2 20210705 - 9606 3308 HSPA4 - APG-2|HEL-S-5a|HS24/P52|HSPH2|RY|hsp70|hsp70RY MIM:601113|HGNC:HGNC:5237|Ensembl:ENSG00000170606 5 5q31.1 heat shock protein family A (Hsp70) member 4 protein-coding HSPA4 heat shock protein family A (Hsp70) member 4 O heat shock 70 kDa protein 4|epididymis secretory sperm binding protein Li 5a|heat shock 70-related protein APG-2|heat shock 70kD protein 4|heat shock protein, 110 kDa|hsp70 RY 20211031 - 9606 3309 HSPA5 - BIP|GRP78|HEL-S-89n MIM:138120|HGNC:HGNC:5238|Ensembl:ENSG00000044574 9 9q33.3 heat shock protein family A (Hsp70) member 5 protein-coding HSPA5 heat shock protein family A (Hsp70) member 5 O endoplasmic reticulum chaperone BiP|78 kDa glucose-regulated protein|HSP70 family protein 5|binding-immunoglobulin protein|endoplasmic reticulum lumenal Ca(2+)-binding protein grp78|epididymis secretory sperm binding protein Li 89n|glucose-regulated protein, 78kDa|heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)|heat shock protein 70 family protein 5|heat shock protein family A member 5|immunoglobulin heavy chain-binding protein 20211026 - 9606 3310 HSPA6 - HSP70B' MIM:140555|HGNC:HGNC:5239|Ensembl:ENSG00000173110 1 1q23.3 heat shock protein family A (Hsp70) member 6 protein-coding HSPA6 heat shock protein family A (Hsp70) member 6 O heat shock 70 kDa protein 6|epididymis secretory sperm binding protein|heat shock 70 kDa protein B'|heat shock 70kD protein 6 (HSP70B')|heat shock 70kDa protein 6 (HSP70B') 20210905 - 9606 3311 HSPA7 - HSP70B MIM:140556|HGNC:HGNC:5240 1 1q23.3 heat shock protein family A (Hsp70) member 7 (pseudogene) pseudo HSPA7 heat shock protein family A (Hsp70) member 7 (pseudogene) O heat shock 70kD protein 7 (HSP70B)|heat shock 70kDa protein 7 (HSP70B) 20211003 - 9606 3312 HSPA8 - HEL-33|HEL-S-72p|HSC54|HSC70|HSC71|HSP71|HSP73|HSPA10|LAP-1|LAP1|NIP71 MIM:600816|HGNC:HGNC:5241|Ensembl:ENSG00000109971 11 11q24.1 heat shock protein family A (Hsp70) member 8 protein-coding HSPA8 heat shock protein family A (Hsp70) member 8 O heat shock cognate 71 kDa protein|LPS-associated protein 1|N-myristoyltransferase inhibitor protein 71|constitutive heat shock protein 70|epididymis luminal protein 33|epididymis secretory sperm binding protein Li 72p|heat shock 70kDa protein 8|heat shock 70kd protein 10|heat shock cognate protein 54|lipopolysaccharide-associated protein 1 20211028 - 9606 3313 HSPA9 - CRP40|CSA|EVPLS|GRP-75|GRP75|HEL-S-124m|HSPA9B|MOT|MOT2|MTHSP75|PBP74|SAAN|SIDBA4 MIM:600548|HGNC:HGNC:5244|Ensembl:ENSG00000113013 5 5q31.2 heat shock protein family A (Hsp70) member 9 protein-coding HSPA9 heat shock protein family A (Hsp70) member 9 O stress-70 protein, mitochondrial|75 kDa glucose-regulated protein|catecholamine-regulated protein 40|epididymis secretory sperm binding protein Li 124m|heat shock 70kD protein 9B|heat shock 70kDa protein 9 (mortalin)|mortalin, perinuclear|mortalin-2|mortalin2|p66-mortalin|peptide-binding protein 74 20210906 - 9606 3314 HSPA8P1 - HSPAP1 HGNC:HGNC:5245|Ensembl:ENSG00000234176 X Xq24 heat shock protein family A (Hsp70) member 8 pseudogene 1 pseudo HSPA8P1 heat shock protein family A (Hsp70) member 8 pseudogene 1 O heat shock 70kD protein pseudogene 1|heat shock 70kDa protein 8 pseudogene 1|heat shock 70kDa protein pseudogene 1 20210611 - 9606 3315 HSPB1 - CMT2F|HEL-S-102|HMN2B|HS.76067|HSP27|HSP28|Hsp25|SRP27 MIM:602195|HGNC:HGNC:5246|Ensembl:ENSG00000106211 7 7q11.23 heat shock protein family B (small) member 1 protein-coding HSPB1 heat shock protein family B (small) member 1 O heat shock protein beta-1|28 kDa heat shock protein|epididymis secretory protein Li 102|estrogen-regulated 24 kDa protein|heat shock 27 kDa protein|heat shock 27kD protein 1|heat shock 27kDa protein 1|putative heat shock protein family B member 1 isoform|stress-responsive protein 27 20211026 - 9606 3316 HSPB2 - HSP27|Hs.78846|LOH11CR1K|MKBP MIM:602179|HGNC:HGNC:5247|Ensembl:ENSG00000170276 11 11q23.1 heat shock protein family B (small) member 2 protein-coding HSPB2 heat shock protein family B (small) member 2 O heat shock protein beta-2|DMPK-binding protein|heat shock 27kDa protein 2|heat-shock protein beta-2 20210708 - 9606 3320 HSP90AA1 - EL52|HEL-S-65p|HSP86|HSP89A|HSP90A|HSP90N|HSPC1|HSPCA|HSPCAL1|HSPCAL4|HSPN|Hsp103|Hsp89|Hsp90|LAP-2|LAP2 MIM:140571|HGNC:HGNC:5253|Ensembl:ENSG00000080824 14 14q32.31 heat shock protein 90 alpha family class A member 1 protein-coding HSP90AA1 heat shock protein 90 alpha family class A member 1 O heat shock protein HSP 90-alpha|HSP 86|LPS-associated protein 2|epididymis luminal secretory protein 52|epididymis secretory sperm binding protein Li 65p|heat shock 86 kDa|heat shock 90kD protein 1, alpha|heat shock 90kD protein 1, alpha-like 4|heat shock 90kD protein, alpha-like 4|heat shock 90kDa protein 1, alpha|heat shock protein 90kDa alpha (cytosolic), class A member 1|heat shock protein 90kDa alpha family class A member 1|lipopolysaccharide-associated protein 2|renal carcinoma antigen NY-REN-38 20211028 - 9606 3321 IGSF3 - EWI-3|LCDD|V8 MIM:603491|HGNC:HGNC:5950|Ensembl:ENSG00000143061 1 1p13.1 immunoglobulin superfamily member 3 protein-coding IGSF3 immunoglobulin superfamily member 3 O immunoglobulin superfamily member 3|glu-Trp-Ile EWI motif-containing protein 3|immunoglobin superfamily, member 3 20211016 - 9606 3322 HSP90AA3P - HSPCAL1 HGNC:HGNC:5254 1 1q23.1 heat shock protein 90 alpha family class A member 3, pseudogene pseudo HSP90AA3P heat shock protein 90 alpha family class A member 3, pseudogene O Heat-shock 90kD protein, alpha-like 1|heat shock 90kD protein 1, alpha-like 1|heat shock 90kDa protein 1, alpha-like 1|heat shock protein 90kDa alpha (cytosolic), class A member 1 pseudogene|heat shock protein 90kDa alpha (cytosolic), class A member 3 (pseudogene)|heat shock protein 90kDa alpha family class A member 3, pseudogene 20210611 - 9606 3323 HSP90AA4P - HSP90Ad|HSPCAL2 HGNC:HGNC:5255 4 4q35.2 heat shock protein 90 alpha family class A member 4, pseudogene pseudo HSP90AA4P heat shock protein 90 alpha family class A member 4, pseudogene O heat shock 90kD protein 1, alpha-like 2|heat shock 90kDa protein 1, alpha-like 2|heat shock protein 90Ad|heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene|heat shock protein 90kDa alpha family class A member 4, pseudogene 20210724 - 9606 3324 HSP90AA2P - HSP90AA2|HSP90ALPHA|HSPCA|HSPCAL3 MIM:140575|HGNC:HGNC:5256 11 11p14.1 heat shock protein 90 alpha family class A member 2, pseudogene pseudo HSP90AA2P heat shock protein 90 alpha family class A member 2, pseudogene O heat shock 90kD protein, alpha-like 3|heat shock 90kDa protein 1, alpha-like 3|heat shock protein 86|heat shock protein 90kDa alpha (cytosolic), class A member 1 pseudogene|heat shock protein 90kDa alpha (cytosolic), class A member 2, pseudogene|heat shock protein 90kDa alpha family class A member 2, pseudogene 20210809 - 9606 3326 HSP90AB1 - D6S182|HSP84|HSP90B|HSPC2|HSPCB MIM:140572|HGNC:HGNC:5258|Ensembl:ENSG00000096384 6 6p21.1 heat shock protein 90 alpha family class B member 1 protein-coding HSP90AB1 heat shock protein 90 alpha family class B member 1 O heat shock protein HSP 90-beta|HSP90-beta|heat shock 84 kDa|heat shock 90kD protein 1, beta|heat shock protein 90 kDa|heat shock protein 90kDa alpha (cytosolic), class B member 1|heat shock protein 90kDa alpha family class B member 1 20211028 - 9606 3327 HSP90AB3P - HSP90BC|HSPCP1 HGNC:HGNC:5259|Ensembl:ENSG00000183199 4 4q22.1 heat shock protein 90 alpha family class B member 3, pseudogene pseudo HSP90AB3P heat shock protein 90 alpha family class B member 3, pseudogene O heat shock 90kD protein 1, beta pseudogene 1|heat shock 90kDa protein 1, beta pseudogene 1|heat shock protein 90Bc|heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene|heat shock protein 90kDa alpha family class B member 3, pseudogene 20210905 - 9606 3329 HSPD1 - CPN60|GROEL|HLD4|HSP-60|HSP60|HSP65|HuCHA60|SPG13 MIM:118190|HGNC:HGNC:5261|Ensembl:ENSG00000144381 2 2q33.1 heat shock protein family D (Hsp60) member 1 protein-coding HSPD1 heat shock protein family D (Hsp60) member 1 O 60 kDa heat shock protein, mitochondrial|60 kDa chaperonin|P60 lymphocyte protein|chaperonin 60|epididymis secretory sperm binding protein|heat shock 60kDa protein 1 (chaperonin)|heat shock protein 65|mitochondrial matrix protein P1|short heat shock protein 60 Hsp60s1 20211026 - 9606 3332 HSPD1P3 - HSP60P1|HSP60P3|HSP60P4|HSPD1-7P|HSPDP1|HSPDP3|HSPDP4 HGNC:HGNC:5264 8 8p23.1 heat shock protein family D (Hsp60) member 1 pseudogene 3 pseudo HSPD1P3 heat shock protein family D (Hsp60) member 1 pseudogene 3 O heat shock 60kD protein 1 (chaperonin) pseudogene 3|heat shock 60kDa protein 1 (chaperonin) pseudogene 3 20210611 - 9606 3336 HSPE1 - CPN10|EPF|GROES|HSP10 MIM:600141|HGNC:HGNC:5269|Ensembl:ENSG00000115541 2 2q33.1 heat shock protein family E (Hsp10) member 1 protein-coding HSPE1 heat shock protein family E (Hsp10) member 1 O 10 kDa heat shock protein, mitochondrial|10 kDa chaperonin|chaperonin 10|early-pregnancy factor|epididymis secretory sperm binding protein|heat shock 10kD protein 1 (chaperonin 10)|heat shock 10kDa protein 1 20211026 - 9606 3337 DNAJB1 - HSPF1|Hdj1|Hsp40|RSPH16B|Sis1 MIM:604572|HGNC:HGNC:5270|Ensembl:ENSG00000132002 19 19p13.12 DnaJ heat shock protein family (Hsp40) member B1 protein-coding DNAJB1 DnaJ heat shock protein family (Hsp40) member B1 O dnaJ homolog subfamily B member 1|DnaJ (Hsp40) homolog, subfamily B, member 1|dnaJ protein homolog 1|heat shock 40 kDa protein 1|human DnaJ protein 1|radial spoke 16 homolog B 20210905 - 9606 3338 DNAJC4 - DANJC4|HSPF2|MCG18 MIM:604189|HGNC:HGNC:5271|Ensembl:ENSG00000110011 11 11q13.1 DnaJ heat shock protein family (Hsp40) member C4 protein-coding DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 O dnaJ homolog subfamily C member 4|DnaJ (Hsp40) homolog, subfamily C, member 4|dnaJ-like protein HSPF2|heat shock 40kD protein 2|multiple endocrine neoplasia type 1 candidate protein number 18 20210611 - 9606 3339 HSPG2 - HSPG|PLC|PRCAN|SJA|SJS|SJS1 MIM:142461|HGNC:HGNC:5273|Ensembl:ENSG00000142798 1 1p36.12 heparan sulfate proteoglycan 2 protein-coding HSPG2 heparan sulfate proteoglycan 2 O basement membrane-specific heparan sulfate proteoglycan core protein|endorepellin (domain V region)|perlecan proteoglycan 20210822 - 9606 3340 NDST1 - HSST|MRT46|NST1 MIM:600853|HGNC:HGNC:7680|Ensembl:ENSG00000070614 5 5q33.1 N-deacetylase and N-sulfotransferase 1 protein-coding NDST1 N-deacetylase and N-sulfotransferase 1 O bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1|HSNST 1|N-Deacetylase-N-sulfotransferase 1|N-HSST 1|N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1|N-deacetylase/N-sulfotransferase 1|N-heparan sulfate sulfotransferase 1|NDST-1|[Heparan sulfate]-glucosamine N-sulfotransferase 1|glucosaminyl N-deacetylase/N-sulfotransferase 1|heparan sulfate-N-deacetylase/N-sulfotransferase|heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1 20210708 - 9606 3341 HTC1 - - MIM:145701 8 8q22 hypertrichosis 1 (universalis, congenital) unknown - - - Ambras syndrome|hypertrichosis universalis (universalis, congenital) 20200624 - 9606 3342 HTC2 - CGH|CXINSq27.1|HCG MIM:307150 X Xq27.1 hypertrichosis 2 (generalized, congenital) unknown - - - hypertrichosis 2 (generalised, congenital) 20191002 - 9606 3343 HTL - HLT|LEUT MIM:151310 20 - high L-leucine transport unknown - - - Leucine transport, high 20200625 - 9606 3344 FOXN2 - HTLF MIM:143089|HGNC:HGNC:5281|Ensembl:ENSG00000170802 2 2p16.3 forkhead box N2 protein-coding FOXN2 forkhead box N2 O forkhead box protein N2|human T-cell leukemia virus enhancer factor 20210705 - 9606 3346 HTN1 - HIS1 MIM:142701|HGNC:HGNC:5283|Ensembl:ENSG00000126550 4 4q13.3 histatin 1 protein-coding HTN1 histatin 1 O histatin-1|PPB|histidine-rich protein 1|post-PB protein 20210708 - 9606 3347 HTN3 - HIS2|HTN2|HTN5|PB MIM:142702|HGNC:HGNC:5284|Ensembl:ENSG00000205649 4 4q13.3 histatin 3 protein-coding HTN3 histatin 3 O histatin-3|basic histidine-rich protein|histatin-4|histatin-5|histatin-6|histatin-7|histatin-8|histatin-9|histidine-rich protein 3 20211003 - 9606 3349 HTOR - - MIM:143460|HGNC:HGNC:5285 21 - 5-hydroxytryptamine (serotonin) oxygenase regulator unknown HTOR 5-hydroxytryptamine (serotonin) oxygenase regulator O - 20170408 - 9606 3350 HTR1A - 5-HT-1A|5-HT1A|5HT1a|ADRB2RL1|ADRBRL1|G-21|PFMCD MIM:109760|HGNC:HGNC:5286|Ensembl:ENSG00000178394 5 5q12.3 5-hydroxytryptamine receptor 1A protein-coding HTR1A 5-hydroxytryptamine receptor 1A O 5-hydroxytryptamine receptor 1A|5-HT1a receptor|5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled|guanine nucleotide-binding regulatory protein-coupled receptor 20211003 - 9606 3351 HTR1B - 5-HT-1B|5-HT-1D-beta|5-HT1B|5-HT1DB|HTR1D2|HTR1DB|S12 MIM:182131|HGNC:HGNC:5287|Ensembl:ENSG00000135312 6 6q14.1 5-hydroxytryptamine receptor 1B protein-coding HTR1B 5-hydroxytryptamine receptor 1B O 5-hydroxytryptamine receptor 1B|5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled|serotonin 1D beta receptor|serotonin receptor 1B 20210822 - 9606 3352 HTR1D - 5-HT1D|HT1DA|HTR1DA|HTRL|RDC4 MIM:182133|HGNC:HGNC:5289|Ensembl:ENSG00000179546 1 1p36.12 5-hydroxytryptamine receptor 1D protein-coding HTR1D 5-hydroxytryptamine receptor 1D O 5-hydroxytryptamine receptor 1D|5-HT-1D|5-HT-1D-alpha|5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled|serotonin 1D alpha receptor|serotonin receptor 1D 20210708 - 9606 3354 HTR1E - 5-HT1E MIM:182132|HGNC:HGNC:5291|Ensembl:ENSG00000168830 6 6q14.3 5-hydroxytryptamine receptor 1E protein-coding HTR1E 5-hydroxytryptamine receptor 1E O 5-hydroxytryptamine receptor 1E|5-HT-1E|5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled|S31|serotonin receptor 1E 20210809 - 9606 3355 HTR1F - 5-HT-1F|5-HT1F|5HT6|HTR1EL|MR77 MIM:182134|HGNC:HGNC:5292|Ensembl:ENSG00000179097 3 3p11.2-p11.1 5-hydroxytryptamine receptor 1F protein-coding HTR1F 5-hydroxytryptamine receptor 1F O 5-hydroxytryptamine receptor 1F|5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled|serotonin receptor 1F 20210708 - 9606 3356 HTR2A - 5-HT2A|HTR2 MIM:182135|HGNC:HGNC:5293|Ensembl:ENSG00000102468 13 13q14.2 5-hydroxytryptamine receptor 2A protein-coding HTR2A 5-hydroxytryptamine receptor 2A O 5-hydroxytryptamine receptor 2A|5-HT2 receptor|5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled|serotonin 5-HT-2A receptor 20211031 - 9606 3357 HTR2B - 5-HT(2B)|5-HT-2B|5-HT2B MIM:601122|HGNC:HGNC:5294|Ensembl:ENSG00000135914 2 2q37.1 5-hydroxytryptamine receptor 2B protein-coding HTR2B 5-hydroxytryptamine receptor 2B O 5-hydroxytryptamine receptor 2B|5-HT 2B receptor|5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled|5-hydroxytryptamine 2B receptor|5-hydroxytryptamine receptor 2B variant b|serotonin receptor 2B 20211028 - 9606 3358 HTR2C - 5-HT1C|5-HT2C|5-HTR2C|5HTR2C|HTR1C MIM:312861|HGNC:HGNC:5295|Ensembl:ENSG00000147246 X Xq23 5-hydroxytryptamine receptor 2C protein-coding HTR2C 5-hydroxytryptamine receptor 2C O 5-hydroxytryptamine receptor 2C|5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled|5-hydroxytryptamine receptor 1C|serotonin 5-HT-1C receptor|serotonin 5-HT-2C receptor 20211028 - 9606 3359 HTR3A - 5-HT-3|5-HT3A|5-HT3R|5HT3R|HTR3 MIM:182139|HGNC:HGNC:5297|Ensembl:ENSG00000166736 11 11q23.2 5-hydroxytryptamine receptor 3A protein-coding HTR3A 5-hydroxytryptamine receptor 3A O 5-hydroxytryptamine receptor 3A|5-hydroxytryptamine (serotonin) receptor 3A, ionotropic|5-hydroxytryptamine receptor 3|5HT3 serotonin receptor|serotonin receptor 3A|serotonin-gated ion channel receptor 20210816 - 9606 3360 HTR4 - 5-HT4|5-HT4R MIM:602164|HGNC:HGNC:5299|Ensembl:ENSG00000164270 5 5q32 5-hydroxytryptamine receptor 4 protein-coding HTR4 5-hydroxytryptamine receptor 4 O 5-hydroxytryptamine receptor 4|5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled|5-hydroxytryptamine receptor 4 transcript variant b2|5-hydroxytryptamine receptor 4 transcript variant b3|cardiac 5-HT4 receptor 20210708 - 9606 3361 HTR5A - 5-HT5A MIM:601305|HGNC:HGNC:5300|Ensembl:ENSG00000157219 7 7q36.2 5-hydroxytryptamine receptor 5A protein-coding HTR5A 5-hydroxytryptamine receptor 5A O 5-hydroxytryptamine receptor 5A|5-HT-5|5-HT-5A|5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 20210708 - 9606 3362 HTR6 - 5-HT6|5-HT6R MIM:601109|HGNC:HGNC:5301|Ensembl:ENSG00000158748 1 1p36.13 5-hydroxytryptamine receptor 6 protein-coding HTR6 5-hydroxytryptamine receptor 6 O 5-hydroxytryptamine receptor 6|5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled|serotonin receptor 6 20210919 - 9606 3363 HTR7 - 5-HT7 MIM:182137|HGNC:HGNC:5302|Ensembl:ENSG00000148680 10 10q23.31 5-hydroxytryptamine receptor 7 protein-coding HTR7 5-hydroxytryptamine receptor 7 O 5-hydroxytryptamine receptor 7|5-HT-7|5-HT-X|5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) 20210809 - 9606 3364 HUS1 - hHUS1 MIM:603760|HGNC:HGNC:5309|Ensembl:ENSG00000136273 7 7p12.3 HUS1 checkpoint clamp component protein-coding HUS1 HUS1 checkpoint clamp component O checkpoint protein HUS1|HUS1 checkpoint homolog|hus1+-like protein 20210807 - 9606 3369 HVBS7 - - HGNC:HGNC:5314 18 18q11.1-q11.2 hepatitis B virus integration site 7 other HVBS7 hepatitis B virus integration site 7 O - 20190324 - 9606 3370 HVBS8 - - HGNC:HGNC:5315 17 17p12-p11.2 hepatitis B virus integration site 8 other HVBS8 hepatitis B virus integration site 8 O - 20190324 - 9606 3371 TNC - 150-225|DFNA56|GMEM|GP|HXB|JI|TN|TN-C MIM:187380|HGNC:HGNC:5318|Ensembl:ENSG00000041982 9 9q33.1 tenascin C protein-coding TNC tenascin C O tenascin|GP 150-225|cytotactin|deafness, autosomal dominant 56|glioma-associated-extracellular matrix antigen|hexabrachion (tenascin)|myotendinous antigen|neuronectin|tenascin-C additional domain 1 20211031 - 9606 3373 HYAL1 - HYAL-1|LUCA1|MPS9|NAT6 MIM:607071|HGNC:HGNC:5320|Ensembl:ENSG00000114378 3 3p21.31 hyaluronidase 1 protein-coding HYAL1 hyaluronidase 1 O hyaluronidase-1|hyaluronoglucosaminidase 1|luCa-1|lung carcinoma protein 1|plasma hyaluronidase|tumor suppressor LUCA-1 20210708 - 9606 3375 IAPP - DAP|IAP MIM:147940|HGNC:HGNC:5329|Ensembl:ENSG00000121351 12 12p12.1 islet amyloid polypeptide protein-coding IAPP islet amyloid polypeptide O islet amyloid polypeptide|Islet amyloid polypeptide (diabetes-associated peptide; amylin)|amylin|diabetes-associated peptide|insulinoma amyloid peptide 20210919 - 9606 3376 IARS1 - GRIDHH|IARS|ILERS|ILRS|IRS|PRO0785 MIM:600709|HGNC:HGNC:5330|Ensembl:ENSG00000196305 9 9q22.31 isoleucyl-tRNA synthetase 1 protein-coding IARS1 isoleucyl-tRNA synthetase 1 O isoleucine--tRNA ligase, cytoplasmic|isoleucine tRNA ligase 1, cytoplasmic 20210905 - 9606 3378 IBD2 - - MIM:601458 12 12p13.2-q24.1 inflammatory bowel disease 2 unknown - - - - 20191002 - 9606 3381 IBSP - BNSP|BSP|BSP-II|SP-II MIM:147563|HGNC:HGNC:5341|Ensembl:ENSG00000029559 4 4q22.1 integrin binding sialoprotein protein-coding IBSP integrin binding sialoprotein O bone sialoprotein 2|BSP II|bone sialoprotein II|cell-binding sialoprotein 20210708 - 9606 3382 ICA1 - ICA69|ICAp69 MIM:147625|HGNC:HGNC:5343|Ensembl:ENSG00000003147 7 7p21.3 islet cell autoantigen 1 protein-coding ICA1 islet cell autoantigen 1 O islet cell autoantigen 1|69 kDa islet cell autoantigen|diabetes mellitus type I autoantigen|islet cell autoantigen 1, 69kDa|islet cell autoantigen p69|p69|testicular tissue protein Li 162 20211016 - 9606 3383 ICAM1 - BB2|CD54|P3.58 MIM:147840|HGNC:HGNC:5344|Ensembl:ENSG00000090339 19 19p13.2 intercellular adhesion molecule 1 protein-coding ICAM1 intercellular adhesion molecule 1 O intercellular adhesion molecule 1|ICAM-1|cell surface glycoprotein P3.58|epididymis secretory sperm binding protein|intercellular adhesion molecule 1 (CD54), human rhinovirus receptor|major group rhinovirus receptor 20211031 - 9606 3384 ICAM2 - CD102 MIM:146630|HGNC:HGNC:5345|Ensembl:ENSG00000108622 17 17q23.3 intercellular adhesion molecule 2 protein-coding ICAM2 intercellular adhesion molecule 2 O intercellular adhesion molecule 2|ICAM-2 20211031 - 9606 3385 ICAM3 - CD50|CDW50|ICAM-R MIM:146631|HGNC:HGNC:5346|Ensembl:ENSG00000076662 19 19p13.2 intercellular adhesion molecule 3 protein-coding ICAM3 intercellular adhesion molecule 3 O intercellular adhesion molecule 3|ICAM-3 20211016 - 9606 3386 ICAM4 - CD242|LW MIM:614088|HGNC:HGNC:5347|Ensembl:ENSG00000105371 19 19p13.2 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) protein-coding ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) O intercellular adhesion molecule 4|CD242 antigen|LW antigen a|Landsteiner-Wiener blood group antigen a|Landsteiner-Wiener blood group glycoprotein|intercellular adhesion molecule 4 (LW blood group) 20210708 - 9606 3394 IRF8 - H-ICSBP|ICSBP|ICSBP1|IMD32A|IMD32B|IRF-8 MIM:601565|HGNC:HGNC:5358|Ensembl:ENSG00000140968 16 16q24.1 interferon regulatory factor 8 protein-coding IRF8 interferon regulatory factor 8 O interferon regulatory factor 8|interferon consensus sequence binding protein 1 20211026 - 9606 3396 MRPL58 - DS-1|DS1|ICT1|MRP-L58 MIM:603000|HGNC:HGNC:5359|Ensembl:ENSG00000167862 17 17q25.1 mitochondrial ribosomal protein L58 protein-coding MRPL58 mitochondrial ribosomal protein L58 O peptidyl-tRNA hydrolase ICT1, mitochondrial|39S ribosomal protein L58, mitochondrial|digestion substraction 1|immature colon carcinoma transcript 1 protein|mitochondrial large ribosomal subunit protein ICT1|mitochondrial large ribosomal subunit protein mL62 20210807 - 9606 3397 ID1 - ID|bHLHb24 MIM:600349|HGNC:HGNC:5360|Ensembl:ENSG00000125968 20 20q11.21 inhibitor of DNA binding 1, HLH protein protein-coding ID1 inhibitor of DNA binding 1, HLH protein O DNA-binding protein inhibitor ID-1|class B basic helix-loop-helix protein 24|dJ857M17.1.2 (inhibitor of DNA binding 1, dominant negative helix-loop-helix protein)|inhibitor of DNA binding 1, dominant negative helix-loop-helix protein|inhibitor of differentiation 1 20210912 - 9606 3398 ID2 - GIG8|ID2A|ID2H|bHLHb26 MIM:600386|HGNC:HGNC:5361|Ensembl:ENSG00000115738 2 2p25.1 inhibitor of DNA binding 2 protein-coding ID2 inhibitor of DNA binding 2 O DNA-binding protein inhibitor ID-2|DNA-binding protein inhibitor ID2|cell growth-inhibiting gene 8|class B basic helix-loop-helix protein 26|helix-loop-helix protein ID2|inhibitor of DNA binding 2, HLH protein|inhibitor of DNA binding 2, dominant negative helix-loop-helix protein|inhibitor of differentiation 2 20211003 - 9606 3399 ID3 - HEIR-1|bHLHb25 MIM:600277|HGNC:HGNC:5362|Ensembl:ENSG00000117318 1 1p36.12 inhibitor of DNA binding 3, HLH protein protein-coding ID3 inhibitor of DNA binding 3, HLH protein O DNA-binding protein inhibitor ID-3|ID-like protein inhibitor HLH 1R21|class B basic helix-loop-helix protein 25|helix-loop-helix protein HEIR-1|inhibitor of DNA binding 3, dominant negative helix-loop-helix protein|inhibitor of differentiation 3 20211017 - 9606 3400 ID4 - IDB4|bHLHb27 MIM:600581|HGNC:HGNC:5363|Ensembl:ENSG00000172201 6 6p22.3 inhibitor of DNA binding 4, HLH protein protein-coding ID4 inhibitor of DNA binding 4, HLH protein O DNA-binding protein inhibitor ID-4|class B basic helix-loop-helix protein 27|inhibitor of DNA binding 4, dominant negative helix-loop-helix protein|inhibitor of differentiation 4 20210905 - 9606 3402 IDDM3 - - MIM:600318 15 15q26 insulin dependent diabetes mellitus 3 unknown - - - - 20191002 - 9606 3403 IDDM4 - - MIM:600319 11 11q13 insulin dependent diabetes mellitus 4 unknown - - - - 20191002 - 9606 3405 IDDM6 - - MIM:601941 18 18q21 insulin dependent diabetes mellitus 6 unknown - - - - 20191002 - 9606 3406 IDDM7 - - MIM:600321 2 2q31 insulin dependent diabetes mellitus 7 unknown - - - - 20191002 - 9606 3407 IDDM8 - - MIM:600883 6 6q27 insulin dependent diabetes mellitus 8 unknown - - - - 20191002 - 9606 3410 IDDM11 - - MIM:601208 14 14q24.3-q31 insulin dependent diabetes mellitus 11 unknown - - - - 20191002 - 9606 3412 IDDM13 - - MIM:601318 2 2q34 insulin dependent diabetes mellitus 13 unknown - - - - 20191002 - 9606 3414 IDDM15 - - MIM:601666 6 6q21 insulin dependent diabetes mellitus 15 unknown - - - - 20191002 - 9606 3416 IDE - INSULYSIN MIM:146680|HGNC:HGNC:5381|Ensembl:ENSG00000119912 10 10q23.33 insulin degrading enzyme protein-coding IDE insulin degrading enzyme O insulin-degrading enzyme|Abeta-degrading protease|insulin protease|insulinase 20210906 - 9606 3417 IDH1 - HEL-216|HEL-S-26|IDCD|IDH|IDP|IDPC|PICD MIM:147700|HGNC:HGNC:5382|Ensembl:ENSG00000138413 2 2q34 isocitrate dehydrogenase (NADP(+)) 1 protein-coding IDH1 isocitrate dehydrogenase (NADP(+)) 1 O isocitrate dehydrogenase [NADP] cytoplasmic|NADP(+)-specific ICDH|NADP-dependent isocitrate dehydrogenase, cytosolic|NADP-dependent isocitrate dehydrogenase, peroxisomal|epididymis luminal protein 216|epididymis secretory protein Li 26|epididymis secretory sperm binding protein|isocitrate dehydrogenase (NADP(+)) 1, cytosolic|isocitrate dehydrogenase 1 (NADP+), soluble|oxalosuccinate decarboxylase 20211031 - 9606 3418 IDH2 - D2HGA2|ICD-M|IDH|IDHM|IDP|IDPM|mNADP-IDH MIM:147650|HGNC:HGNC:5383|Ensembl:ENSG00000182054 15 15q26.1 isocitrate dehydrogenase (NADP(+)) 2 protein-coding IDH2 isocitrate dehydrogenase (NADP(+)) 2 O isocitrate dehydrogenase [NADP], mitochondrial|NADP(+)-specific ICDH|isocitrate dehydrogenase (NADP(+)) 2, mitochondrial|isocitrate dehydrogenase 2 (NADP+), mitochondrial|oxalosuccinate decarboxylase 20211031 - 9606 3419 IDH3A - RP90 MIM:601149|HGNC:HGNC:5384|Ensembl:ENSG00000166411 15 15q25.1 isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha protein-coding IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha O isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial|H-IDH alpha|NAD(+)-specific ICDH subunit alpha|NAD(H)-specific isocitrate dehydrogenase alpha subunit|NAD+-specific ICDH|isocitrate dehydrogenase (NAD(+)) 3 alpha|isocitrate dehydrogenase (NAD+) alpha chain|isocitrate dehydrogenase 3 (NAD(+)) alpha|isocitrate dehydrogenase 3 (NAD+) alpha|isocitric dehydrogenase subunit alpha 20210905 - 9606 3420 IDH3B - RP46 MIM:604526|HGNC:HGNC:5385|Ensembl:ENSG00000101365 20 20p13 isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta protein-coding IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta O isocitrate dehydrogenase [NAD] subunit beta, mitochondrial|NAD(+)-specific ICDH subunit beta|isocitrate dehydrogenase (NAD(+)) 3 beta|isocitrate dehydrogenase 3 (NAD(+)) beta|isocitrate dehydrogenase 3 (NAD+) beta|isocitric dehydrogenase subunit beta 20210708 - 9606 3421 IDH3G - H-IDHG MIM:300089|HGNC:HGNC:5386|Ensembl:ENSG00000067829 X Xq28 isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma protein-coding IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma O isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial|IDH-gamma|NAD (H)-specific isocitrate dehydrogenase gamma subunit|NAD(+)-specific ICDH subunit gamma|NAD+-specific ICDH|isocitrate dehydrogenase (NAD(+)) 3 gamma|isocitrate dehydrogenase 3 (NAD(+)) gamma|isocitrate dehydrogenase 3 (NAD+) gamma|isocitrate dehydrogenase 3 gamma|isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, gamma subunit|isocitric dehydrogenase subunit gamma 20210708 - 9606 3422 IDI1 - IPP1|IPPI1 MIM:604055|HGNC:HGNC:5387|Ensembl:ENSG00000067064 10 10p15.3 isopentenyl-diphosphate delta isomerase 1 protein-coding IDI1 isopentenyl-diphosphate delta isomerase 1 O isopentenyl-diphosphate Delta-isomerase 1|IPP isomerase 1|isopentenyl diphosphate dimethylallyl diphosphate isomerase 1|isopentenyl pyrophosphate isomerase 1 20210708 - 9606 3423 IDS - ID2S|MPS2|SIDS MIM:300823|HGNC:HGNC:5389|Ensembl:ENSG00000010404 X Xq28 iduronate 2-sulfatase protein-coding IDS iduronate 2-sulfatase O iduronate 2-sulfatase|alpha-L-iduronate sulfate sulfatase|iduronate 2-sulfatase 14 kDa chain|iduronate 2-sulfatase 42 kDa chain|idursulfase 20210708 - 9606 3424 IDSP1 - IDS2 HGNC:HGNC:5390 X Xq28 iduronate 2-sulfatase pseudogene 1 pseudo IDSP1 iduronate 2-sulfatase pseudogene 1 O - 20210611 - 9606 3425 IDUA - IDA|MPS1|MPSI MIM:252800|HGNC:HGNC:5391|Ensembl:ENSG00000127415 4 4p16.3 alpha-L-iduronidase protein-coding IDUA alpha-L-iduronidase O alpha-L-iduronidase|iduronidase alpha-L-|mucopolysaccharidosis type I 20210708 - 9606 3426 CFI - AHUS3|ARMD13|C3BINA|C3b-INA|FI|IF|KAF MIM:217030|HGNC:HGNC:5394|Ensembl:ENSG00000205403 4 4q25 complement factor I protein-coding CFI complement factor I O complement factor I|C3B/C4B inactivator|C3b-inactivator|Konglutinogen-activating factor|complement component I|complement control protein factor I|complement factor I heavy chain|light chain of factor I 20210822 - 9606 3428 IFI16 - IFNGIP1|PYHIN2 MIM:147586|HGNC:HGNC:5395|Ensembl:ENSG00000163565 1 1q23.1 interferon gamma inducible protein 16 protein-coding IFI16 interferon gamma inducible protein 16 O gamma-interferon-inducible protein 16|interferon-gamma induced protein IFI 16|interferon-inducible myeloid differentiation transcriptional activator 20211016 - 9606 3429 IFI27 - FAM14D|ISG12|ISG12A|P27 MIM:600009|HGNC:HGNC:5397|Ensembl:ENSG00000165949 14 14q32.12 interferon alpha inducible protein 27 protein-coding IFI27 interferon alpha inducible protein 27 O interferon alpha-inducible protein 27, mitochondrial|2310061N23Rik|ISG12(a)|interferon alpha-induced 11.5 kDa protein|interferon-stimulated gene 12a protein 20211026 - 9606 3430 IFI35 - IFP35 MIM:600735|HGNC:HGNC:5399|Ensembl:ENSG00000068079 17 17q21.31 interferon induced protein 35 protein-coding IFI35 interferon induced protein 35 O interferon-induced 35 kDa protein|IFP 35|ifi-35 20210708 - 9606 3431 SP110 - IFI41|IFI75|IPR1|VODI MIM:604457|HGNC:HGNC:5401|Ensembl:ENSG00000135899 2 2q37.1 SP110 nuclear body protein protein-coding SP110 SP110 nuclear body protein O sp110 nuclear body protein|interferon-induced protein 41, 30kD|interferon-induced protein 41/75|interferon-induced protein 75, 52kD|phosphoprotein 41|phosphoprotein 75|speckled 110 kDa|transcriptional coactivator Sp110 20210628 - 9606 3433 IFIT2 - G10P2|GARG-39|IFI-54|IFI-54K|IFI54|IFIT-2|ISG-54|ISG-54 K|ISG-54K|ISG54|P54|cig42 MIM:147040|HGNC:HGNC:5409|Ensembl:ENSG00000119922 10 10q23.31 interferon induced protein with tetratricopeptide repeats 2 protein-coding IFIT2 interferon induced protein with tetratricopeptide repeats 2 O interferon-induced protein with tetratricopeptide repeats 2|Interferon, alpha-inducible protein (MW 54kD)|interferon-induced 54 kDa protein|interferon-induced protein 54 20210708 - 9606 3434 IFIT1 - C56|G10P1|IFI-56|IFI-56K|IFI56|IFIT-1|IFNAI1|ISG56|P56|RNM561 MIM:147690|HGNC:HGNC:5407|Ensembl:ENSG00000185745 10 10q23.31 interferon induced protein with tetratricopeptide repeats 1 protein-coding IFIT1 interferon induced protein with tetratricopeptide repeats 1 O interferon-induced protein with tetratricopeptide repeats 1|interferon, alpha-inducible protein (MW 56kD)|interferon-induced 56 kDa protein|interferon-inducible mRNA 561 20210822 - 9606 3437 IFIT3 - CIG-49|GARG-49|IFI60|IFIT4|IRG2|ISG60|P60|RIG-G|cig41 MIM:604650|HGNC:HGNC:5411|Ensembl:ENSG00000119917 10 10q23.31 interferon induced protein with tetratricopeptide repeats 3 protein-coding IFIT3 interferon induced protein with tetratricopeptide repeats 3 O interferon-induced protein with tetratricopeptide repeats 3|CIG49|IFI-60K|IFIT-3|IFIT-4|ISG-60|interferon-induced 60 kDa protein|interferon-induced protein with tetratricopeptide repeats 4|retinoic acid-induced gene G protein 20211003 - 9606 3438 IFN1@ - IFNA - 9 9p22 interferon, type 1, cluster other - - - - 20200503 - 9606 3439 IFNA1 - IFL|IFN|IFN-ALPHA|IFN-alphaD|IFNA13|IFNA@|leIF D MIM:147660|HGNC:HGNC:5417|Ensembl:ENSG00000197919 9 9p21.3 interferon alpha 1 protein-coding IFNA1 interferon alpha 1 O interferon alpha-1/13|IFN-alpha-1/13|interferon alpha 1b|interferon alpha-D|interferon-alpha1 20211017 - 9606 3440 IFNA2 - IFN-alpha-2|IFN-alphaA|IFNA|IFNA2B|leIF A MIM:147562|HGNC:HGNC:5423|Ensembl:ENSG00000188379 9 9p21.3 interferon alpha 2 protein-coding IFNA2 interferon alpha 2 O interferon alpha-2|alpha-2a interferon|interferon alpha 2a|interferon alpha 2b|interferon alpha A 20210708 - 9606 3441 IFNA4 - IFN-alpha4a|INFA4 MIM:147564|HGNC:HGNC:5425|Ensembl:ENSG00000236637 9 9p21.3 interferon alpha 4 protein-coding IFNA4 interferon alpha 4 O interferon alpha-4|IFN-alpha-4|interferon alpha-4B|interferon alpha-76|interferon alpha-M1 20210812 - 9606 3442 IFNA5 - IFN-alpha-5|IFN-alphaG|INA5|INFA5|leIF G MIM:147565|HGNC:HGNC:5426|Ensembl:ENSG00000147873 9 9p21.3 interferon alpha 5 protein-coding IFNA5 interferon alpha 5 O interferon alpha-5|interferon alpha-61|interferon alpha-G 20210708 - 9606 3443 IFNA6 - IFN-alphaK MIM:147566|HGNC:HGNC:5427|Ensembl:ENSG00000120235 9 9p21.3 interferon alpha 6 protein-coding IFNA6 interferon alpha 6 O interferon alpha-6|IFN-alpha-6|interferon alpha-54|interferon alpha-K|leIF K 20210708 - 9606 3444 IFNA7 - IFN-alphaJ|IFNA-J MIM:147567|HGNC:HGNC:5428|Ensembl:ENSG00000214042 9 9p21.3 interferon alpha 7 protein-coding IFNA7 interferon alpha 7 O interferon alpha-7|IFN-alpha 7|IFN-alpha-J1|interferon alpha-J|interferon alpha-J1|leIF J 20210708 - 9606 3445 IFNA8 - IFN-alphaB MIM:147568|HGNC:HGNC:5429|Ensembl:ENSG00000120242 9 9p21.3 interferon alpha 8 protein-coding IFNA8 interferon alpha 8 O interferon alpha-8|IFN-alpha-8|interferon alpha type 201|interferon alpha-B|interferon alpha-B'|interferon alpha-B2|leIF B 20210708 - 9606 3446 IFNA10 - IFN-alphaC MIM:147577|HGNC:HGNC:5418|Ensembl:ENSG00000186803 9 9p21.3 interferon alpha 10 protein-coding IFNA10 interferon alpha 10 O interferon alpha-10|IFN-alpha-10|interferon alpha-6L|interferon alpha-C|leIF C 20210708 - 9606 3447 IFNA13 - - MIM:147578|HGNC:HGNC:5419|Ensembl:ENSG00000233816 9 9p21.3 interferon alpha 13 protein-coding IFNA13 interferon alpha 13 O interferon alpha-1/13|IFN-alpha-1/13|interferon alpha-D|leIF D 20210708 - 9606 3448 IFNA14 - IFN-alphaH|LEIF2H MIM:147579|HGNC:HGNC:5420|Ensembl:ENSG00000228083 9 9p21.3 interferon alpha 14 protein-coding IFNA14 interferon alpha 14 O interferon alpha-14|IFN-alpha-14|interferon alpha-H|interferon lambda-2-H|leIF H 20210708 - 9606 3449 IFNA16 - IFN-alpha-16|IFN-alphaO MIM:147580|HGNC:HGNC:5421|Ensembl:ENSG00000147885 9 9p21.3 interferon alpha 16 protein-coding IFNA16 interferon alpha 16 O interferon alpha-16|IFN-alpha-N-protein|interferon alpha-WA 20210708 - 9606 3451 IFNA17 - IFN-alphaI|IFNA|INFA|LEIF2C1 MIM:147583|HGNC:HGNC:5422|Ensembl:ENSG00000234829 9 9p21.3 interferon alpha 17 protein-coding IFNA17 interferon alpha 17 O interferon alpha-17|IFN-alpha-17|interferon alpha-88|interferon alpha-I'|interferon alpha-T|interferon alpha-WA|leIF I 20210708 - 9606 3452 IFNA21 - IFN-alphaI|LeIF F|leIF-F MIM:147584|HGNC:HGNC:5424|Ensembl:ENSG00000137080 9 9p21.3 interferon alpha 21 protein-coding IFNA21 interferon alpha 21 O interferon alpha-21|IFN-alpha-21|interferon alpha-F|leukocyte interferon protein 20210708 - 9606 3453 IFNA22P - IFNAP22 HGNC:HGNC:5431 9 9p21.3 interferon alpha 22, pseudogene pseudo IFNA22P interferon alpha 22, pseudogene O interferon, alpha 7 pseudogene|interferon, alpha pseudogene 22 20210724 - 9606 3454 IFNAR1 - AVP|IFN-alpha-REC|IFNAR|IFNBR|IFRC MIM:107450|HGNC:HGNC:5432|Ensembl:ENSG00000142166 21 21q22.11 interferon alpha and beta receptor subunit 1 protein-coding IFNAR1 interferon alpha and beta receptor subunit 1 O interferon alpha/beta receptor 1|CRF2-1|IFN-R-1|IFN-alpha/beta receptor 1|IFNalpha/beta receptor 1|alpha-type antiviral protein|beta-type antiviral protein|cytokine receptor class-II member 1|cytokine receptor family 2 member 1|interferon (alpha, beta and omega) receptor 1|interferon receptor 1|interferon-alpha/beta receptor alpha chain|interferon-beta receptor 1|type I interferon receptor 1 20211028 - 9606 3455 IFNAR2 - IFN-R|IFN-alpha-REC|IFNABR|IFNARB|IMD45 MIM:602376|HGNC:HGNC:5433|Ensembl:ENSG00000159110|Ensembl:ENSG00000249624 21 21q22.11 interferon alpha and beta receptor subunit 2 protein-coding IFNAR2 interferon alpha and beta receptor subunit 2 O interferon alpha/beta receptor 2|IFN-R-2|IFN-alpha/beta receptor 2|IFNalpha/beta receptor subunit 2|human interferon alpha/beta receptor|interferon (alpha, beta and omega) receptor 2|interferon alpha binding protein|interferon receptor|interferon-alpha/beta receptor beta chain|type I interferon receptor 2 20211028 - 9606 3456 IFNB1 - IFB|IFF|IFN-beta|IFNB MIM:147640|HGNC:HGNC:5434|Ensembl:ENSG00000171855 9 9p21.3 interferon beta 1 protein-coding IFNB1 interferon beta 1 O interferon beta|fibroblast interferon|interferon, beta 1, fibroblast|interferon-beta 20211026 - 9606 3458 IFNG - IFG|IFI|IMD69 MIM:147570|HGNC:HGNC:5438|Ensembl:ENSG00000111537 12 12q15 interferon gamma protein-coding IFNG interferon gamma O interferon gamma|IFN-gamma|immune interferon 20211031 - 9606 3459 IFNGR1 - CD119|IFNGR|IMD27A|IMD27B MIM:107470|HGNC:HGNC:5439|Ensembl:ENSG00000027697 6 6q23.3 interferon gamma receptor 1 protein-coding IFNGR1 interferon gamma receptor 1 O interferon gamma receptor 1|AVP, type 2|CD119 antigen|CDw119|IFN-gamma receptor 1|IFN-gamma-R-alpha|IFN-gamma-R1|antiviral protein, type 2|immune interferon receptor 1|interferon-gamma receptor alpha chain 20211028 - 9606 3460 IFNGR2 - AF-1|IFGR2|IFNGT1|IMD28 MIM:147569|HGNC:HGNC:5440|Ensembl:ENSG00000159128 21 21q22.11 interferon gamma receptor 2 protein-coding IFNGR2 interferon gamma receptor 2 O interferon gamma receptor 2|IFN-gamma receptor 2|IFN-gamma-R-beta|IFN-gamma-R2|interferon gamma receptor accessory factor-1|interferon gamma receptor beta chain|interferon gamma transducer 1 20211028 - 9606 3461 IFNA11P - IFNP11 HGNC:HGNC:5442|Ensembl:ENSG00000231195 9 9p21.3 interferon alpha 11, pseudogene pseudo IFNA11P interferon alpha 11, pseudogene O interferon pseudogene 11 20210611 - 9606 3463 IFNA20P - IFNP20 HGNC:HGNC:5444|Ensembl:ENSG00000226393 9 9p21.3 interferon alpha 20, pseudogene pseudo IFNA20P interferon alpha 20, pseudogene O interferon pseudogene 20 20210611 - 9606 3466 IFNR - IFNGM|IFNGM2 MIM:147573|HGNC:HGNC:5447 16 - interferon production regulator unknown IFNR interferon production regulator O - 20190324 - 9606 3467 IFNW1 - - MIM:147553|HGNC:HGNC:5448|Ensembl:ENSG00000177047 9 9p21.3 interferon omega 1 protein-coding IFNW1 interferon omega 1 O interferon omega-1|IFN-omega 1, interferon omega-1|interferon alpha-II-1 20210611 - 9606 3469 IFNWP4 - - HGNC:HGNC:5453 9 9p21.3 interferon omega 1 pseudogene 4 pseudo IFNWP4 interferon omega 1 pseudogene 4 O interferon, omega 4 (pseudogene) 20210518 - 9606 3474 IFNWP19 - - HGNC:HGNC:5451|Ensembl:ENSG00000238271 9 9p21.3 interferon omega 1 pseudogene 19 pseudo IFNWP19 interferon omega 1 pseudogene 19 O interferon, omega 19 (pseudogene) 20210611 - 9606 3475 IFRD1 - PC4|TIS7 MIM:603502|HGNC:HGNC:5456|Ensembl:ENSG00000006652 7 7q31.1 interferon related developmental regulator 1 protein-coding IFRD1 interferon related developmental regulator 1 O interferon-related developmental regulator 1|12-O-tetradecanoylphorbol-13-acetate-induced sequence 7|TPA induced sequence 7|nerve growth factor-inducible protein PC4|pheochromocytoma cell-4 20210905 - 9606 3476 IGBP1 - ALPHA-4|IBP1|MRXS28|alpha4 MIM:300139|HGNC:HGNC:5461|Ensembl:ENSG00000089289 X Xq13.1 immunoglobulin binding protein 1 protein-coding IGBP1 immunoglobulin binding protein 1 O immunoglobulin-binding protein 1|B cell signal transduction molecule alpha 4|CD79a-binding protein 1|bA351K23.1 (immunoglobulin binding protein 1 (CD79A) )|immunoglobulin (CD79A) binding protein 1|protein alpha-4|protein phosphatase 2/4/6 regulatory subunit|protein phosphatase 2A, regulatory subunit alpha-4|renal carcinoma antigen NY-REN-16 20210910 - 9606 3478 IGES - - MIM:147061 5 5q31.1 immunoglobulin E concentration, serum unknown - - - - 20191002 - 9606 3479 IGF1 - IGF|IGF-I|IGFI|MGF MIM:147440|HGNC:HGNC:5464|Ensembl:ENSG00000017427 12 12q23.2 insulin like growth factor 1 protein-coding IGF1 insulin like growth factor 1 O insulin-like growth factor I|insulin-like growth factor 1 (somatomedin C)|insulin-like growth factor IB|mechano growth factor|somatomedin-C 20211031 - 9606 3480 IGF1R - CD221|IGFIR|IGFR|JTK13 MIM:147370|HGNC:HGNC:5465|Ensembl:ENSG00000140443 15 15q26.3 insulin like growth factor 1 receptor protein-coding IGF1R insulin like growth factor 1 receptor O insulin-like growth factor 1 receptor|IGF-I receptor|soluble IGF1R variant 1|soluble IGF1R variant 2 20211017 - 9606 3481 IGF2 - C11orf43|GRDF|IGF-II|PP9974|SRS3 MIM:147470|HGNC:HGNC:5466|Ensembl:ENSG00000167244 11 11p15.5 insulin like growth factor 2 protein-coding IGF2 insulin like growth factor 2 O insulin-like growth factor II|T3M-11-derived growth factor|insulin-like growth factor 2 (somatomedin A)|insulin-like growth factor type 2|preptin 20211031 - 9606 3482 IGF2R - CD222|CI-M6PR|CIMPR|M6P-R|M6P/IGF2R|MPR 300|MPR1|MPR300|MPRI MIM:147280|HGNC:HGNC:5467|Ensembl:ENSG00000197081 6 6q25.3 insulin like growth factor 2 receptor protein-coding IGF2R insulin like growth factor 2 receptor O cation-independent mannose-6-phosphate receptor|300 kDa mannose 6-phosphate receptor|CI Man-6-P receptor|IGF-II receptor|M6P/IGF2 receptor|insulin-like growth factor II receptor 20210809 - 9606 3483 IGFALS - ACLSD|ALS MIM:601489|HGNC:HGNC:5468|Ensembl:ENSG00000099769 16 16p13.3 insulin like growth factor binding protein acid labile subunit protein-coding IGFALS insulin like growth factor binding protein acid labile subunit O insulin-like growth factor-binding protein complex acid labile subunit|insulin-like growth factor binding protein complex acid labile chain 20210906 - 9606 3484 IGFBP1 - AFBP|IBP1|IGF-BP25|PP12|hIGFBP-1 MIM:146730|HGNC:HGNC:5469|Ensembl:ENSG00000146678 7 7p12.3 insulin like growth factor binding protein 1 protein-coding IGFBP1 insulin like growth factor binding protein 1 O insulin-like growth factor-binding protein 1|IBP-1|IGF-binding protein 1|IGFBP-1|alpha-pregnancy-associated endometrial globulin|amniotic fluid binding protein|binding protein-25|binding protein-26|binding protein-28|growth hormone independent-binding protein|placental protein 12 20211031 - 9606 3485 IGFBP2 - IBP2|IGF-BP53 MIM:146731|HGNC:HGNC:5471|Ensembl:ENSG00000115457 2 2q35 insulin like growth factor binding protein 2 protein-coding IGFBP2 insulin like growth factor binding protein 2 O insulin-like growth factor-binding protein 2|IGF-binding protein 2|insulin-like growth factor binding protein 2, 36kDa 20211017 - 9606 3486 IGFBP3 - BP-53|IBP3 MIM:146732|HGNC:HGNC:5472|Ensembl:ENSG00000146674 7 7p12.3 insulin like growth factor binding protein 3 protein-coding IGFBP3 insulin like growth factor binding protein 3 O insulin-like growth factor-binding protein 3|IBP-3|IGF-binding protein 3|IGFBP-3|acid stable subunit of the 140 K IGF complex|binding protein 29|binding protein 53|growth hormone-dependent binding protein 20211031 - 9606 3487 IGFBP4 - BP-4|HT29-IGFBP|IBP4|IGFBP-4 MIM:146733|HGNC:HGNC:5473|Ensembl:ENSG00000141753 17 17q21.2 insulin like growth factor binding protein 4 protein-coding IGFBP4 insulin like growth factor binding protein 4 O insulin-like growth factor-binding protein 4|IBP-4|IGF-binding protein 4 20210719 - 9606 3488 IGFBP5 - IBP5 MIM:146734|HGNC:HGNC:5474|Ensembl:ENSG00000115461 2 2q35 insulin like growth factor binding protein 5 protein-coding IGFBP5 insulin like growth factor binding protein 5 O insulin-like growth factor-binding protein 5|IBP-5|IGF-binding protein 5|IGFBP-5 20211026 - 9606 3489 IGFBP6 - IBP6 MIM:146735|HGNC:HGNC:5475|Ensembl:ENSG00000167779 12 12q13.13 insulin like growth factor binding protein 6 protein-coding IGFBP6 insulin like growth factor binding protein 6 O insulin-like growth factor-binding protein 6|IBP-6|IGF binding protein 6|IGFBP-6 20211003 - 9606 3490 IGFBP7 - AGM|FSTL2|IBP-7|IGFBP-7|IGFBP-7v|IGFBPRP1|MAC25|PSF|RAMSVPS|TAF MIM:602867|HGNC:HGNC:5476|Ensembl:ENSG00000163453 4 4q12 insulin like growth factor binding protein 7 protein-coding IGFBP7 insulin like growth factor binding protein 7 O insulin-like growth factor-binding protein 7|IGF-binding protein 7|IGFBP-rP1|PGI2-stimulating factor|angiomodulin|prostacyclin-stimulating factor|tumor-derived adhesion factor 20211026 - 9606 3491 CCN1 - CYR61|GIG1|IGFBP10 MIM:602369|HGNC:HGNC:2654|Ensembl:ENSG00000142871 1 1p22.3 cellular communication network factor 1 protein-coding CCN1 cellular communication network factor 1 O CCN family member 1|IBP-10|IGF-binding protein 10|IGFBP-10|cysteine rich angiogenic inducer 61|cysteine-rich heparin-binding protein 61|cysteine-rich, anigogenic inducer, 61|insulin-like growth factor-binding protein 10|protein CYR61 20211031 - 9606 3492 IGH - IGD1|IGH.1@|IGH@|IGHD@|IGHDY1|IGHJ|IGHJ@|IGHV|IGHV@ MIM:146910|MIM:147010|MIM:147070|HGNC:HGNC:5477 14 14q32.33 immunoglobulin heavy locus protein-coding IGH immunoglobulin heavy locus O D (diversity) region of heavy chains|J (joining) region of heavy chains|immunglobulin heavy chain variable region|immunoglobulin heavy diversity cluster|immunoglobulin heavy diversity group|immunoglobulin heavy diversity locus|immunoglobulin heavy joining cluster|immunoglobulin heavy joining group|immunoglobulin heavy polypeptide, joining region|immunoglobulin heavy variable cluster|immunoglobulin heavy variable group 20210611 - 9606 3493 IGHA1 - IgA1 MIM:146900|HGNC:HGNC:5478|Ensembl:ENSG00000211895|IMGT/GENE-DB:IGHA1 14 14q32.33 immunoglobulin heavy constant alpha 1 other IGHA1 immunoglobulin heavy constant alpha 1 O immunoglobulin alpha 1|immunoglobulin heavy chain constant region alpha 1 20210816 - 9606 3494 IGHA2 - A2M MIM:147000|HGNC:HGNC:5479|Ensembl:ENSG00000211890|IMGT/GENE-DB:IGHA2 14 14q32.33 immunoglobulin heavy constant alpha 2 (A2m marker) other IGHA2 immunoglobulin heavy constant alpha 2 (A2m marker) O constant region of heavy chain of IgA2|immunoglobulin alpha 2 (A2M marker) 20210708 - 9606 3495 IGHD - - MIM:147170|HGNC:HGNC:5480|Ensembl:ENSG00000211898|IMGT/GENE-DB:IGHD 14 14q32.33 immunoglobulin heavy constant delta other IGHD immunoglobulin heavy constant delta O constant region of heavy chain of IgD 20210611 - 9606 3496 IGHDOR15@ - IGD2|IGHD/OR15|IGHDY2 MIM:146990 15 15q11-q12 immunoglobulin heavy diversity orphans on chromosome 15 other - - - immunoglobulin heavy chain diversity region-2|immunoglobulin heavy diversity orphons on chromosome 15|immunoglobulin heavy polypeptide, diversity region 2 20190324 - 9606 3497 IGHE - IgE MIM:147180|HGNC:HGNC:5522|Ensembl:ENSG00000211891|IMGT/GENE-DB:IGHE 14 14q32.33 immunoglobulin heavy constant epsilon other IGHE immunoglobulin heavy constant epsilon O constant region of heavy chain of IgE|immunoglobulin epsilon 20210708 - 9606 3498 IGHEP1 - - HGNC:HGNC:5523|Ensembl:ENSG00000253692|IMGT/GENE-DB:IGHEP1 14 14q32.33 immunoglobulin heavy constant epsilon P1 (pseudogene) pseudo IGHEP1 immunoglobulin heavy constant epsilon P1 (pseudogene) O immunoglobulin epsilon pseudogene 1 20210611 - 9606 3499 IGHEP2 - - HGNC:HGNC:5524|Ensembl:ENSG00000254017|IMGT/GENE-DB:IGHEP2 9 9p24.1 immunoglobulin heavy constant epsilon P2 (pseudogene) pseudo IGHEP2 immunoglobulin heavy constant epsilon P2 (pseudogene) O immunoglobulin epsilon pseudogene 2 20210611 - 9606 3500 IGHG1 - - MIM:147100|HGNC:HGNC:5525|Ensembl:ENSG00000211896|IMGT/GENE-DB:IGHG1 14 14q32.33 immunoglobulin heavy constant gamma 1 (G1m marker) other IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) O constant region of heavy chain of IgG1|immunoglobulin gamma 1 (Gm marker) 20210719 - 9606 3501 IGHG2 - - MIM:147110|HGNC:HGNC:5526|Ensembl:ENSG00000211893|IMGT/GENE-DB:IGHG2 14 14q32.33 immunoglobulin heavy constant gamma 2 (G2m marker) other IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) O Constant region of heavy chain of IgG2|immunoglobulin gamma 2 (Gm marker)|immunoglobulin heavy constant gamma 2 (Gm marker) 20210905 - 9606 3502 IGHG3 - IgG3 MIM:147120|HGNC:HGNC:5527|Ensembl:ENSG00000211897|IMGT/GENE-DB:IGHG3 14 14q32.33 immunoglobulin heavy constant gamma 3 (G3m marker) other IGHG3 immunoglobulin heavy constant gamma 3 (G3m marker) O C gamma 3|constant region of heavy chain of IgG3|immunoglobulin gamma 3 (Gm marker)|immunoglobulin heavy constant gamma 3 (Gm marker)|secrete-type Ig gamma heavy-chain 20210912 - 9606 3503 IGHG4 - - MIM:147130|HGNC:HGNC:5528|Ensembl:ENSG00000211892|IMGT/GENE-DB:IGHG4 14 14q32.33 immunoglobulin heavy constant gamma 4 (G4m marker) other IGHG4 immunoglobulin heavy constant gamma 4 (G4m marker) O immunoglobulin heavy chain constant region gamma 4 20210708 - 9606 3505 IGHGP - IGHGP1 HGNC:HGNC:5529|IMGT/GENE-DB:IGHGP 14 14q32.33 immunoglobulin heavy constant gamma P (non-functional) pseudo IGHGP immunoglobulin heavy constant gamma P (non-functional) O immunoglobulin gamma pseudogene 20210611 - 9606 3507 IGHM - AGM1|MU|VH MIM:147020|HGNC:HGNC:5541|Ensembl:ENSG00000211899|IMGT/GENE-DB:IGHM 14 14q32.33 immunoglobulin heavy constant mu other IGHM immunoglobulin heavy constant mu O constant region of heavy chain of IgM|immunoglobulin mu chain 20210708 - 9606 3508 IGHMBP2 - CATF1|CMT2S|HCSA|HMN6|SMARD1|SMUBP2|ZFAND7 MIM:600502|HGNC:HGNC:5542|Ensembl:ENSG00000132740 11 11q13.3 immunoglobulin mu DNA binding protein 2 protein-coding IGHMBP2 immunoglobulin mu DNA binding protein 2 O DNA-binding protein SMUBP-2|ATP-dependent helicase IGHMBP2|GF-1|cardiac transcription factor 1|glial factor 1|immunoglobulin mu binding protein 2|zinc finger, AN1-type domain 7 20210822 - 9606 3512 JCHAIN - IGCJ|IGJ|JCH MIM:147790|HGNC:HGNC:5713|Ensembl:ENSG00000132465 4 4q13.3 joining chain of multimeric IgA and IgM protein-coding JCHAIN joining chain of multimeric IgA and IgM O immunoglobulin J chain|IgJ chain|J chain|immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 20210708 - 9606 3513 JCHAINP1 - IGJP1 HGNC:HGNC:5714 8 8q21.2 joining chain of multimeric IgA and IgM pseudogene 1 pseudo JCHAINP1 joining chain of multimeric IgA and IgM pseudogene 1 O immunoglobulin J polypeptide pseudogene 1 20210611 - 9606 3514 IGKC - HCAK1|IGKCD|Km MIM:147200|HGNC:HGNC:5716|Ensembl:ENSG00000211592|IMGT/GENE-DB:IGKC 2 2p11.2 immunoglobulin kappa constant other IGKC immunoglobulin kappa constant O immunoglobulin kappa (invariant region)|immunoglobulin kappa constant region|immunoglobulin kappa light chain (VJ) 20211031 - 9606 3515 IGKDEL - IGKDE MIM:146780|HGNC:HGNC:5717 2 2p11.2 immunoglobulin kappa deleting element or like other IGKDEL immunoglobulin kappa deleting element or like O immunoglobulin kappa polypeptide deleting element 20210611 - 9606 3516 RBPJ - AOS3|CBF-1|CBF1|IGKJRB|IGKJRB1|KBF2|RBP-J|RBP-J kappa|RBP-JK|RBPJK|RBPSUH|SUH|csl MIM:147183|HGNC:HGNC:5724|Ensembl:ENSG00000168214 4 4p15.2 recombination signal binding protein for immunoglobulin kappa J region protein-coding RBPJ recombination signal binding protein for immunoglobulin kappa J region O recombining binding protein suppressor of hairless|H-2K binding factor-2|immunoglobulin kappa J region recombination signal binding protein 1|renal carcinoma antigen NY-REN-30|suppressor of hairless homolog 20210906 - 9606 3517 RBPJP2 - IGKJRBP2|RBPSUHP2 HGNC:HGNC:5726 9 9q21.11 RBPJ pseudogene 2 pseudo RBPJP2 RBPJ pseudogene 2 O immunoglobulin kappa J region recombination signal binding protein pseudogene 2|recombining binding protein suppressor of hairless pseudogene 2 20210611 - 9606 3519 IGKV@ - IGKV|IGKV1|IGKV1@|IGKV2|IGKV2@|IGKV3|IGKV3@ MIM:146980 2 2p12 immunoglobulin kappa variable cluster other - - - immunoglobulin kappa variable group|immunoglobulin kappa variable region 20210404 - 9606 3523 IGKV3OR2-268 - IGKV268|IGKV3OR2-268A|IGKV3OR2268|IGKV3OR2268A HGNC:HGNC:5830|IMGT/GENE-DB:IGKV3/OR2-268 2 2p12 immunoglobulin kappa variable 3/OR2-268 (non-functional) other IGKV3OR2-268 immunoglobulin kappa variable 3/OR2-268 (non-functional) O IGKV3/OR2-268|IGKV3/OR2-268A|immunoglobulin kappa variable 3/OR2-268a|immunoglobulin kappa variable region 268 20190324 - 9606 3525 IGKV1OR1-1 - IGKV1/OR1-1|IGKV1OR11|IGKVP1 HGNC:HGNC:5764|IMGT/GENE-DB:IGKV1/OR1-1 1 1q21.1 immunoglobulin kappa variable 1/OR1-1 (pseudogene) pseudo IGKV1OR1-1 immunoglobulin kappa variable 1/OR1-1 (pseudogene) O immunoglobulin kappa variable region pseudogene 1 20210611 - 9606 3527 IGKV3OR22-2 - IGKV3OR222|IGKVP3 HGNC:HGNC:5833|Ensembl:ENSG00000254264|IMGT/GENE-DB:IGKV3/OR22-2 22 22q11.1 immunoglobulin kappa variable 3/OR22-2 (pseudogene) pseudo IGKV3OR22-2 immunoglobulin kappa variable 3/OR22-2 (pseudogene) O IGKV3/OR22-2|immunoglobulin kappa variable region pseudogene 3 20210611 - 9606 3529 IGKV2OR22-3 - IGKV2OR223|IGKVP4 HGNC:HGNC:5812|IMGT/GENE-DB:IGKV2/OR22-3 22 22q11.1 immunoglobulin kappa variable 2/OR22-3 (pseudogene) pseudo IGKV2OR22-3 immunoglobulin kappa variable 2/OR22-3 (pseudogene) O IGKV2/OR22-3|immunoglobulin kappa variable region pseudogene 4 20210611 - 9606 3530 IGKV1OR22-1 - IGKV1OR221|IGKVP5 HGNC:HGNC:5772|IMGT/GENE-DB:IGKV1/OR22-1 22 22q11.1 immunoglobulin kappa variable 1/OR22-1 (pseudogene) pseudo IGKV1OR22-1 immunoglobulin kappa variable 1/OR22-1 (pseudogene) O IGKV1/OR22-1|immunoglobulin kappa variable region pseudogene 5 20210611 - 9606 3531 IGKV1OR2-1 - IGKV1/OR-1|IGKV1/OR2-1|IGKV1OR-1|IGKV1OR1|IGKVPZ1 HGNC:HGNC:5760|IMGT/GENE-DB:IGKV1/OR2-1 2 2p11.1 immunoglobulin kappa variable 1/OR2-1 (pseudogene) pseudo IGKV1OR2-1 immunoglobulin kappa variable 1/OR2-1 (pseudogene) O immunoglobulin kappa variable 1/OR-1 (pseudogene)|immunoglobulin kappa variable region pseudogene Z1 20190324 - 9606 3532 IGKV1OR-2 - IGKV1/OR-2|IGKV1OR2|IGKVPZ2 HGNC:HGNC:5761|Ensembl:ENSG00000156755|IMGT/GENE-DB:IGKV1/OR-2 9 9q13 immunoglobulin kappa variable 1/OR-2 (pseudogene) pseudo IGKV1OR-2 immunoglobulin kappa variable 1/OR-2 (pseudogene) O immunoglobulin kappa variable region pseudogene Z2 20210611 - 9606 3534 IGKV1OR-4 - IGKV1/OR-4|IGKV1OR4|IGKVPZ4 HGNC:HGNC:5763|IMGT/GENE-DB:IGKV1/OR-4 - - immunoglobulin kappa variable 1/OR-4 (pseudogene) pseudo IGKV1OR-4 immunoglobulin kappa variable 1/OR-4 (pseudogene) O immunoglobulin kappa variable region pseudogene Z4 20190324 - 9606 3535 IGL - IGL@|IGLC6 HGNC:HGNC:5853 22 22q11.22 immunoglobulin lambda locus protein-coding IGL immunoglobulin lambda locus O ig lambda-6 chain C region|immunoglobulin lambda gene cluster 20210611 - 9606 3537 IGLC1 - IGLC MIM:147220|HGNC:HGNC:5855|Ensembl:ENSG00000211675|IMGT/GENE-DB:IGLC1 22 22q11.22 immunoglobulin lambda constant 1 other IGLC1 immunoglobulin lambda constant 1 O C1 segment|immunoglobulin lambda constant 1 (Mcg marker)|immunoglobulin lambda constant region 1 (Mcg marker) 20210708 - 9606 3538 IGLC2 - IGLC HGNC:HGNC:5856|Ensembl:ENSG00000211677|IMGT/GENE-DB:IGLC2 22 22q11.22 immunoglobulin lambda constant 2 other IGLC2 immunoglobulin lambda constant 2 O C2 segment|Ig light-chain, partial Ke-Oz- polypeptide, C-term|immunoglobulin lambda constant 2 (Kern-Oz- marker)|immunoglobulin lambda constant region 2 (Kern- Oz- marker) 20210708 - 9606 3539 IGLC3 - IGLC HGNC:HGNC:5857|Ensembl:ENSG00000211679|IMGT/GENE-DB:IGLC3 22 22q11.22 immunoglobulin lambda constant 3 (Kern-Oz+ marker) other IGLC3 immunoglobulin lambda constant 3 (Kern-Oz+ marker) O C3 segment|Ig lambda-3 chain C regions|immunoglobulin lambda constant region 3 (Kern- Oz+ marker) 20210708 - 9606 3540 IGLC4 - IGLC HGNC:HGNC:5858|Ensembl:ENSG00000254029|IMGT/GENE-DB:IGLC4 22 22q11.22 immunoglobulin lambda constant 4 (pseudogene) pseudo IGLC4 immunoglobulin lambda constant 4 (pseudogene) O immunoglobulin lambda constant region 4 (pseudogene) 20210611 - 9606 3541 IGLC5 - IGLC HGNC:HGNC:5859|Ensembl:ENSG00000254030|IMGT/GENE-DB:IGLC5 22 22q11.22 immunoglobulin lambda constant 5 (pseudogene) pseudo IGLC5 immunoglobulin lambda constant 5 (pseudogene) O immunoglobulin lambda constant region 5 (pseudogene) 20210611 - 9606 3542 IGLC6 - IGLC HGNC:HGNC:5860|Ensembl:ENSG00000222037|IMGT/GENE-DB:IGLC6 22 22q11.22 immunoglobulin lambda constant 6 pseudo IGLC6 immunoglobulin lambda constant 6 O Ig lambda-6 chain C region|immunoglobulin lambda constant 6 (Kern+Oz- marker)|immunoglobulin lambda constant 6 (Kern+Oz- marker, gene/pseudogene)|immunoglobulin lambda constant region 6 (Kern+ Oz- marker) 20210708 - 9606 3543 IGLL1 - 14.1|AGM2|CD179b|IGL1|IGL5|IGLJ14.1|IGLL|IGO|IGVPB|VPREB2 MIM:146770|HGNC:HGNC:5870|Ensembl:ENSG00000128322 22 22q11.23 immunoglobulin lambda like polypeptide 1 protein-coding IGLL1 immunoglobulin lambda like polypeptide 1 O immunoglobulin lambda-like polypeptide 1|CD179 antigen-like family member B|CD179b antigen|Pre-B lymphocyte-specific protein-2|ig lambda-5|immunoglobulin omega polypeptide chain|immunoglobulin-related 14.1 protein|immunoglobulin-related protein 14.1|lambda5 20210708 - 9606 3544 IGLL2P - 16.2|FLAMBDA1|IGLL1P|IGLL2 HGNC:HGNC:5871 22 22q11.23 immunoglobulin lambda like polypeptide 2, pseudogene pseudo IGLL2P immunoglobulin lambda like polypeptide 2, pseudogene O - 20170408 - 9606 3546 IGLV@ - IGLV MIM:147240 22 22q11.2 immunoglobulin lambda variable cluster other - - - Variable region of lambda light chains|immunoglobulin lambda variable group|immunoglobulin lambda variable region gene cluster 20190324 - 9606 3547 IGSF1 - CHTE|IGCD1|IGDC1|INHBP|PGSF2|p120 MIM:300137|HGNC:HGNC:5948|Ensembl:ENSG00000147255 X Xq26.1 immunoglobulin superfamily member 1 protein-coding IGSF1 immunoglobulin superfamily member 1 O immunoglobulin superfamily member 1|immunoglobulin-like domain-containing protein 1|inhibin-binding protein|pituitary gland-specific factor 2 20210611 - 9606 3548 IHG1 - IHG MIM:308500 X - iris hypoplasia with glaucoma 1 unknown - - - - 20200625 - 9606 3549 IHH - BDA1|HHG2 MIM:600726|HGNC:HGNC:5956|Ensembl:ENSG00000163501 2 2q35 Indian hedgehog signaling molecule protein-coding IHH Indian hedgehog signaling molecule O indian hedgehog protein|Indian hedgehog homolog 20210926 - 9606 3550 IK - CSA2|RED|RER MIM:600549|HGNC:HGNC:5958|Ensembl:ENSG00000113141 5 5q31.3 IK cytokine protein-coding IK IK cytokine O protein Red|IK cytokine, down-regulator of HLA II|IK factor|RD element|chondrosarcoma-associated protein 2|cytokine IK|prer protein 20210905 - 9606 3551 IKBKB - IKK-beta|IKK2|IKKB|IMD15|IMD15A|IMD15B|NFKBIKB MIM:603258|HGNC:HGNC:5960|Ensembl:ENSG00000104365 8 8p11.21 inhibitor of nuclear factor kappa B kinase subunit beta protein-coding IKBKB inhibitor of nuclear factor kappa B kinase subunit beta O inhibitor of nuclear factor kappa-B kinase subunit beta|I-kappa-B kinase 2|I-kappa-B-kinase beta|inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta|nuclear factor NF-kappa-B inhibitor kinase beta|serine/threonine protein kinase IKBKB 20211028 - 9606 3552 IL1A - IL-1 alpha|IL-1A|IL1|IL1-ALPHA|IL1F1 MIM:147760|HGNC:HGNC:5991|Ensembl:ENSG00000115008 2 2q14.1 interleukin 1 alpha protein-coding IL1A interleukin 1 alpha O interleukin-1 alpha|hematopoietin-1|preinterleukin 1 alpha|pro-interleukin-1-alpha 20211031 - 9606 3553 IL1B - IL-1|IL1-BETA|IL1F2|IL1beta MIM:147720|HGNC:HGNC:5992|Ensembl:ENSG00000125538 2 2q14.1 interleukin 1 beta protein-coding IL1B interleukin 1 beta O interleukin-1 beta|IL-1 beta|catabolin|interleukin 1beta|preinterleukin 1 beta|pro-interleukin-1-beta 20211031 - 9606 3554 IL1R1 - CD121A|D2S1473|IL-1R-alpha|IL1R|IL1RA|P80 MIM:147810|HGNC:HGNC:5993|Ensembl:ENSG00000115594 2 2q11.2-q12.1 interleukin 1 receptor type 1 protein-coding IL1R1 interleukin 1 receptor type 1 O interleukin-1 receptor type 1|CD121 antigen-like family member A|IL-1R-1|IL-1RT-1|IL-1RT1|interleukin 1 receptor alpha, type I|interleukin-1 receptor alpha|interleukin-1 receptor type I 20211017 - 9606 3556 IL1RAP - C3orf13|IL-1RAcP|IL1R3 MIM:602626|HGNC:HGNC:5995|Ensembl:ENSG00000196083 3 3q28 interleukin 1 receptor accessory protein protein-coding IL1RAP interleukin 1 receptor accessory protein O interleukin-1 receptor accessory protein|IL-1 receptor accessory protein|interleukin-1 receptor 3|interleukin-1 receptor accessory protein beta 20210906 - 9606 3557 IL1RN - DIRA|ICIL-1RA|IL-1RN|IL-1ra|IL-1ra3|IL1F3|IL1RA|IRAP|MVCD4 MIM:147679|HGNC:HGNC:6000|Ensembl:ENSG00000136689 2 2q14.1 interleukin 1 receptor antagonist protein-coding IL1RN interleukin 1 receptor antagonist O interleukin-1 receptor antagonist protein|IL1 inhibitor|intracellular IL-1 receptor antagonist type II|intracellular interleukin-1 receptor antagonist (icIL-1ra)|type II interleukin-1 receptor antagonist 20211017 - 9606 3558 IL2 - IL-2|TCGF|lymphokine MIM:147680|HGNC:HGNC:6001|Ensembl:ENSG00000109471 4 4q27 interleukin 2 protein-coding IL2 interleukin 2 O interleukin-2|T cell growth factor|aldesleukin|involved in regulation of T-cell clonal expansion 20211031 - 9606 3559 IL2RA - CD25|IDDM10|IL2R|IMD41|TCGFR|p55 MIM:147730|HGNC:HGNC:6008|Ensembl:ENSG00000134460 10 10p15.1 interleukin 2 receptor subunit alpha protein-coding IL2RA interleukin 2 receptor subunit alpha O interleukin-2 receptor subunit alpha|IL-2 receptor subunit alpha|IL-2R subunit alpha|TAC antigen|interleukin 2 receptor, alpha 20211031 - 9606 3560 IL2RB - CD122|IL15RB|IMD63|P70-75 MIM:146710|HGNC:HGNC:6009|Ensembl:ENSG00000100385 22 22q12.3 interleukin 2 receptor subunit beta protein-coding IL2RB interleukin 2 receptor subunit beta O interleukin-2 receptor subunit beta|CD122 antigen|IL-2 receptor subunit beta|IL-2R subunit beta|IL-2RB|high affinity IL-2 receptor beta subunit|high affinity IL-2 receptor subunit beta|interleukin 15 receptor, beta|interleukin 2 receptor, beta|interleukin-15 receptor subunit beta|p75 20211003 - 9606 3561 IL2RG - CD132|CIDX|IL-2RG|IMD4|P64|SCIDX|SCIDX1 MIM:308380|HGNC:HGNC:6010|Ensembl:ENSG00000147168 X Xq13.1 interleukin 2 receptor subunit gamma protein-coding IL2RG interleukin 2 receptor subunit gamma O cytokine receptor common subunit gamma|CD132 antigen|IL-2 receptor subunit gamma|IL-2R subunit gamma|common cytokine receptor gamma chain|gammaC|interleukin 2 receptor, gamma|nonfunctional common cytokine receptor gamma chain 20210926 - 9606 3562 IL3 - IL-3|MCGF|MULTI-CSF MIM:147740|HGNC:HGNC:6011|Ensembl:ENSG00000164399 5 5q31.1 interleukin 3 protein-coding IL3 interleukin 3 O interleukin-3|P-cell stimulating factor|colony-stimulating factor, multiple|hematopoietic growth factor|mast-cell growth factor|multilineage-colony-stimulating factor|multipotential colony-stimulating factor 20210711 - 9606 3563 IL3RA - CD123|IL3R|IL3RAY|IL3RX|IL3RY|hIL-3Ra MIM:308385|MIM:430000|HGNC:HGNC:6012|Ensembl:ENSG00000185291 X|Y X;Y interleukin 3 receptor subunit alpha protein-coding IL3RA interleukin 3 receptor subunit alpha O interleukin-3 receptor subunit alpha|CD123 antigen|IL-3 receptor subunit alpha|IL-3R subunit alpha|IL-3R-alpha|IL-3RA|interleukin 3 receptor, alpha (low affinity) 20210919 - 9606 3565 IL4 - BCGF-1|BCGF1|BSF-1|BSF1|IL-4 MIM:147780|HGNC:HGNC:6014|Ensembl:ENSG00000113520 5 5q31.1 interleukin 4 protein-coding IL4 interleukin 4 O interleukin-4|B cell growth factor 1|B_cell stimulatory factor 1|binetrakin|interleukin 4 variant 2|lymphocyte stimulatory factor 1|pitrakinra 20211026 - 9606 3566 IL4R - CD124|IL-4RA|IL4RA MIM:147781|HGNC:HGNC:6015|Ensembl:ENSG00000077238 16 16p12.1 interleukin 4 receptor protein-coding IL4R interleukin 4 receptor O interleukin-4 receptor subunit alpha|IL-4 receptor subunit alpha|IL4R nirs variant 1|interleukin 13 receptor|interleukin-4 receptor alpha chain 20210926 - 9606 3567 IL5 - EDF|IL-5|TRF MIM:147850|HGNC:HGNC:6016|Ensembl:ENSG00000113525 5 5q31.1 interleukin 5 protein-coding IL5 interleukin 5 O interleukin-5|B-cell differentiation factor I|T-cell replacing factor|colony-stimulating factor, eosinophil|eosinophil differentiation factor 20211017 - 9606 3568 IL5RA - CD125|CDw125|HSIL5R3|IL5R MIM:147851|HGNC:HGNC:6017|Ensembl:ENSG00000091181 3 3p26.2 interleukin 5 receptor subunit alpha protein-coding IL5RA interleukin 5 receptor subunit alpha O interleukin-5 receptor subunit alpha|CD125 antigen|IL-5 receptor subunit alpha|IL-5R subunit alpha|interleukin 5 receptor type 3|interleukin 5 receptor, alpha|interleukin-5 receptor alpha chain 20211031 - 9606 3569 IL6 - BSF-2|BSF2|CDF|HGF|HSF|IFN-beta-2|IFNB2|IL-6 MIM:147620|HGNC:HGNC:6018|Ensembl:ENSG00000136244 7 7p15.3 interleukin 6 protein-coding IL6 interleukin 6 O interleukin-6|B-cell differentiation factor|B-cell stimulatory factor 2|CTL differentiation factor|hybridoma growth factor|interferon beta-2|interleukin BSF-2 20211031 - 9606 3570 IL6R - CD126|HIES5|IL-1Ra|IL-6R|IL-6R-1|IL-6RA|IL6Q|IL6QTL|IL6RA|IL6RQ|gp80 MIM:147880|HGNC:HGNC:6019|Ensembl:ENSG00000160712 1 1q21.3 interleukin 6 receptor protein-coding IL6R interleukin 6 receptor O interleukin-6 receptor subunit alpha|CD126 antigen|IL-6 receptor subunit alpha|membrane glycoprotein 80 20211026 - 9606 3572 IL6ST - CD130|CDW130|GP130|HIES4|IL-6RB|sGP130 MIM:600694|HGNC:HGNC:6021|Ensembl:ENSG00000134352 5 5q11.2 interleukin 6 cytokine family signal transducer protein-coding IL6ST interleukin 6 cytokine family signal transducer O interleukin-6 receptor subunit beta|CD130 antigen|IL-6 receptor subunit beta|IL-6R subunit beta|gp130 of the rheumatoid arthritis antigenic peptide-bearing soluble form|gp130, oncostatin M receptor|interleukin receptor beta chain|interleukin-6 signal transducer|membrane glycoprotein 130|membrane glycoprotein gp130|oncostatin-M receptor subunit alpha 20211031 - 9606 3573 IL6STP1 - IL6STP HGNC:HGNC:6022 17 17p12 interleukin 6 signal transducer pseudogene 1 pseudo IL6STP1 interleukin 6 signal transducer pseudogene 1 O interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene 1 20210611 - 9606 3574 IL7 - IL-7 MIM:146660|HGNC:HGNC:6023|Ensembl:ENSG00000104432 8 8q21.13 interleukin 7 protein-coding IL7 interleukin 7 O interleukin-7 20211017 - 9606 3575 IL7R - CD127|CDW127|IL-7R-alpha|IL7RA|ILRA MIM:146661|HGNC:HGNC:6024|Ensembl:ENSG00000168685 5 5p13.2 interleukin 7 receptor protein-coding IL7R interleukin 7 receptor O interleukin-7 receptor subunit alpha|CD127 antigen|IL-7 receptor subunit alpha|IL-7R subunit alpha|interleukin 7 receptor alpha chain 20211026 - 9606 3576 CXCL8 - GCP-1|GCP1|IL8|LECT|LUCT|LYNAP|MDNCF|MONAP|NAF|NAP-1|NAP1|SCYB8 MIM:146930|HGNC:HGNC:6025|Ensembl:ENSG00000169429 4 4q13.3 C-X-C motif chemokine ligand 8 protein-coding CXCL8 C-X-C motif chemokine ligand 8 O interleukin-8|T-cell chemotactic factor|alveolar macrophage chemotactic factor I|beta endothelial cell-derived neutrophil activating peptide|beta-thromboglobulin-like protein|chemokine (C-X-C motif) ligand 8|emoctakin|granulocyte chemotactic protein 1|interleukin 8|lung giant cell carcinoma-derived chemotactic protein|lymphocyte derived neutrophil activating peptide|monocyte-derived neutrophil chemotactic factor|monocyte-derived neutrophil-activating peptide|neutrophil-activating peptide 1|small inducible cytokine subfamily B, member 8|tumor necrosis factor-induced gene 1 20211031 - 9606 3577 CXCR1 - C-C|C-C-CKR-1|CD128|CD181|CDw128a|CKR-1|CMKAR1|IL8R1|IL8RA|IL8RBA MIM:146929|HGNC:HGNC:6026|Ensembl:ENSG00000163464 2 2q35 C-X-C motif chemokine receptor 1 protein-coding CXCR1 C-X-C motif chemokine receptor 1 O C-X-C chemokine receptor type 1|CXC-R1|CXCR-1|IL-8 receptor type 1|IL-8R A|chemokine (C-X-C motif) receptor 1|high affinity interleukin-8 receptor A|interleukin 8 receptor, alpha|interleukin-8 receptor type 1|interleukin-8 receptor type A 20210926 - 9606 3578 IL9 - HP40|IL-9|P40 MIM:146931|HGNC:HGNC:6029|Ensembl:ENSG00000145839 5 5q31.1 interleukin 9 protein-coding IL9 interleukin 9 O interleukin-9|T-cell growth factor p40|cytokine P40|homolog of mouse T cell and mast cell growth factor 40|p40 T-cell and mast cell growth factor|p40 cytokine 20211031 - 9606 3579 CXCR2 - CD182|CDw128b|CMKAR2|IL8R2|IL8RA|IL8RB|WHIMS2 MIM:146928|HGNC:HGNC:6027|Ensembl:ENSG00000180871 2 2q35 C-X-C motif chemokine receptor 2 protein-coding CXCR2 C-X-C motif chemokine receptor 2 O C-X-C chemokine receptor type 2|CXC-R2|CXCR-2|CXCR2 gene for IL8 receptor type B|GRO/MGSA receptor|IL-8 receptor type 2|IL-8R B|chemokine (CXC) receptor 2|high affinity interleukin-8 receptor B|interleukin 8 receptor type 2|interleukin 8 receptor, beta|interleukin-8 receptor type B 20211031 - 9606 3580 CXCR2P1 - CXCR2P|IL8RBP HGNC:HGNC:6028 2 2q35 C-X-C motif chemokine receptor 2 pseudogene 1 pseudo CXCR2P1 C-X-C motif chemokine receptor 2 pseudogene 1 O chemokine (C-X-C motif) receptor 2 pseudogene 1|interleukin 8 receptor (IL8RP) pseudogene|interleukin 8 receptor, beta pseudogene|pseudogene for the low affinity IL-8 receptor 20210724 - 9606 3581 IL9R - CD129|IL-9R MIM:300007|HGNC:HGNC:6030|Ensembl:ENSG00000124334 X|Y Xq28 and Yq12 interleukin 9 receptor protein-coding IL9R interleukin 9 receptor O interleukin-9 receptor|IL-9 receptor 20210708 - 9606 3586 IL10 - CSIF|GVHDS|IL-10|IL10A|TGIF MIM:124092|HGNC:HGNC:5962|Ensembl:ENSG00000136634 1 1q32.1 interleukin 10 protein-coding IL10 interleukin 10 O interleukin-10|T-cell growth inhibitory factor|cytokine synthesis inhibitory factor 20211031 - 9606 3587 IL10RA - CD210|CD210a|CDW210A|HIL-10R|IL-10R1|IL10R MIM:146933|HGNC:HGNC:5964|Ensembl:ENSG00000110324 11 11q23.3 interleukin 10 receptor subunit alpha protein-coding IL10RA interleukin 10 receptor subunit alpha O interleukin-10 receptor subunit alpha|IL-10 receptor subunit alpha|IL-10R subunit 1|IL-10R subunit alpha|IL-10RA|interleukin 10 receptor, alpha|interleukin-10 receptor alpha chain|interleukin-10 receptor subunit 1 20211028 - 9606 3588 IL10RB - CDW210B|CRF2-4|CRFB4|D21S58|D21S66|IL-10R2 MIM:123889|HGNC:HGNC:5965|Ensembl:ENSG00000243646 21 21q22.11 interleukin 10 receptor subunit beta protein-coding IL10RB interleukin 10 receptor subunit beta O interleukin-10 receptor subunit beta|IL-10 receptor subunit beta|IL-10R subunit 2|IL-10R subunit beta|IL-10RB|cytokine receptor class-II CRF2-4|cytokine receptor class-II member 4|cytokine receptor family 2 member 4|cytokine receptor family II, member 4|interleukin 10 receptor, beta|interleukin-10 receptor subunit 2 20211028 - 9606 3589 IL11 - AGIF|IL-11 MIM:147681|HGNC:HGNC:5966|Ensembl:ENSG00000095752 19 19q13.42 interleukin 11 protein-coding IL11 interleukin 11 O interleukin-11|adipogenesis inhibitory factor|oprelvekin 20211031 - 9606 3590 IL11RA - CRSDA MIM:600939|HGNC:HGNC:5967|Ensembl:ENSG00000137070 9 9p13.3 interleukin 11 receptor subunit alpha protein-coding IL11RA interleukin 11 receptor subunit alpha O interleukin-11 receptor subunit alpha|IL-11 receptor subunit alpha|IL-11R subunit alpha|interleukin 11 receptor, alpha|interleukin-11 receptor alpha chain 20210802 - 9606 3592 IL12A - CLMF|IL-12A|NFSK|NKSF1|P35 MIM:161560|HGNC:HGNC:5969|Ensembl:ENSG00000168811 3 3q25.33 interleukin 12A protein-coding IL12A interleukin 12A O interleukin-12 subunit alpha|CLMF p35|IL-12, subunit p35|IL35 subunit|NF cell stimulatory factor chain 1|NK cell stimulatory factor chain 1|cytotoxic lymphocyte maturation factor 1, p35|cytotoxic lymphocyte maturation factor 35 kDa subunit|interleukin 12, p35|interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)|interleukin-12 alpha chain 20210926 - 9606 3593 IL12B - CLMF|CLMF2|IL-12B|IMD28|IMD29|NKSF|NKSF2 MIM:161561|HGNC:HGNC:5970|Ensembl:ENSG00000113302 5 5q33.3 interleukin 12B protein-coding IL12B interleukin 12B O interleukin-12 subunit beta|CLMF p40|IL-12 subunit p40|IL12, subunit p40|NK cell stimulatory factor chain 2|cytotoxic lymphocyte maturation factor 40 kDa subunit|interleukin 12, p40|interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)|interleukin-12 beta chain|natural killer cell stimulatory factor, 40 kD subunit 20210912 - 9606 3594 IL12RB1 - CD212|IL-12R-BETA1|IL12RB|IMD30 MIM:601604|HGNC:HGNC:5971|Ensembl:ENSG00000096996 19 19p13.11 interleukin 12 receptor subunit beta 1 protein-coding IL12RB1 interleukin 12 receptor subunit beta 1 O interleukin-12 receptor subunit beta-1|IL-12 receptor beta component|IL-12 receptor subunit beta-1|IL-12R subunit beta-1|cluster of differentiation 212|interleukin 12 receptor, beta 1|interleukin-12 receptor beta-1 chain 20210809 - 9606 3595 IL12RB2 - - MIM:601642|HGNC:HGNC:5972|Ensembl:ENSG00000081985 1 1p31.3 interleukin 12 receptor subunit beta 2 protein-coding IL12RB2 interleukin 12 receptor subunit beta 2 O interleukin-12 receptor subunit beta-2|IL-12 receptor subunit beta-2|IL-12R subunit beta-2|interleukin 12 receptor, beta 2|interleukin-12 receptor beta-2 chain 20211009 - 9606 3596 IL13 - IL-13|P600 MIM:147683|HGNC:HGNC:5973|Ensembl:ENSG00000169194 5 5q31.1 interleukin 13 protein-coding IL13 interleukin 13 O interleukin-13 20211026 - 9606 3597 IL13RA1 - CD213A1|CT19|IL-13Ra|NR4 MIM:300119|HGNC:HGNC:5974|Ensembl:ENSG00000131724 X Xq24 interleukin 13 receptor subunit alpha 1 protein-coding IL13RA1 interleukin 13 receptor subunit alpha 1 O interleukin-13 receptor subunit alpha-1|CD213a1 antigen|IL-13 receptor subunit alpha-1|IL-13R subunit alpha-1|IL13 receptor alpha-1 chain|cancer/testis antigen 19|interleukin 13 receptor, alpha 1 20210708 - 9606 3598 IL13RA2 - CD213A2|CT19|IL-13R|IL13BP MIM:300130|HGNC:HGNC:5975|Ensembl:ENSG00000123496 X Xq23 interleukin 13 receptor subunit alpha 2 protein-coding IL13RA2 interleukin 13 receptor subunit alpha 2 O interleukin-13 receptor subunit alpha-2|IL-13 receptor subunit alpha-2|IL-13R subunit alpha-2|IL-13R-alpha-2|IL-13RA2|cancer/testis antigen 19|interleukin 13 binding protein|interleukin 13 receptor alpha 2 chain|interleukin 13 receptor, alpha 2 20211017 - 9606 3600 IL15 - IL-15 MIM:600554|HGNC:HGNC:5977|Ensembl:ENSG00000164136 4 4q31.21 interleukin 15 protein-coding IL15 interleukin 15 O interleukin-15 20210926 - 9606 3601 IL15RA - CD215 MIM:601070|HGNC:HGNC:5978|Ensembl:ENSG00000134470 10 10p15.1 interleukin 15 receptor subunit alpha protein-coding IL15RA interleukin 15 receptor subunit alpha O interleukin-15 receptor subunit alpha|interleukin 15 receptor, alpha 20210919 - 9606 3603 IL16 - LCF|NIL16|PRIL16|prIL-16 MIM:603035|HGNC:HGNC:5980|Ensembl:ENSG00000172349 15 15q25.1 interleukin 16 protein-coding IL16 interleukin 16 O pro-interleukin-16|lymphocyte chemoattractant factor|neuronal interleukin 16|prointerleukin 16 20210726 - 9606 3604 TNFRSF9 - 4-1BB|CD137|CDw137|ILA MIM:602250|HGNC:HGNC:11924|Ensembl:ENSG00000049249 1 1p36.23 TNF receptor superfamily member 9 protein-coding TNFRSF9 TNF receptor superfamily member 9 O tumor necrosis factor receptor superfamily member 9|4-1BB ligand receptor|CD137 antigen|T cell antigen ILA|T-cell antigen 4-1BB homolog|homolog of mouse 4-1BB|induced by lymphocyte activation (ILA)|interleukin-activated receptor, homolog of mouse Ly63|receptor protein 4-1BB 20211017 - 9606 3605 IL17A - CTLA-8|CTLA8|IL-17|IL-17A|IL17|ILA17 MIM:603149|HGNC:HGNC:5981|Ensembl:ENSG00000112115 6 6p12.2 interleukin 17A protein-coding IL17A interleukin 17A O interleukin-17A|cytotoxic T-lymphocyte-associated antigen 8|cytotoxic T-lymphocyte-associated protein 8|interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)|interleukin-17 20211026 - 9606 3606 IL18 - IGIF|IL-18|IL-1g|IL1F4 MIM:600953|HGNC:HGNC:5986|Ensembl:ENSG00000150782 11 11q23.1 interleukin 18 protein-coding IL18 interleukin 18 O interleukin-18|IFN-gamma-inducing factor|IL-1 gamma|iboctadekin|interleukin 18 (interferon-gamma-inducing factor)|interleukin-1 gamma 20211031 - 9606 3607 FOXK2 - ILF|ILF-1|ILF1|nGTBP MIM:147685|HGNC:HGNC:6036|Ensembl:ENSG00000141568 17 17q25.3 forkhead box K2 protein-coding FOXK2 forkhead box K2 O forkhead box protein K2|FOXK1|G/T-mismatch specific binding protein|cellular transcription factor ILF-1|interleukin enhancer-binding factor 1 20210708 - 9606 3608 ILF2 - NF45|PRO3063 MIM:603181|HGNC:HGNC:6037|Ensembl:ENSG00000143621 1 1q21.3 interleukin enhancer binding factor 2 protein-coding ILF2 interleukin enhancer binding factor 2 O interleukin enhancer-binding factor 2|interleukin enhancer binding factor 2, 45kD|interleukin enhancer binding factor 2, 45kDa|nuclear factor of activated T-cells, 45-kDa 20211017 - 9606 3609 ILF3 - CBTF|DRBF|DRBP76|MMP4|MPHOSPH4|MPP4|MPP4110|NF-AT-90|NF110|NF110b|NF90|NF90a|NF90b|NF90c|NF90ctv|NFAR|NFAR-1|NFAR-2|NFAR110|NFAR2|NFAR90|TCP110|TCP80 MIM:603182|HGNC:HGNC:6038|Ensembl:ENSG00000129351 19 19p13.2 interleukin enhancer binding factor 3 protein-coding ILF3 interleukin enhancer binding factor 3 O interleukin enhancer-binding factor 3|M phase phosphoprotein 4, nuclear factor associated with DS RNA|M-phase phosphoprotein 4|double-stranded RNA-binding protein, 76 kD|dsRNA binding protein NFAR-2/MPP4|interleukin enhancer binding factor 3, 90kD|interleukin enhancer binding factor 3, 90kDa|nuclear factor associated with dsRNA|nuclear factor of activated T-cells 110 kDa|nuclear factor of activated T-cells 90 kDa|nuclear factor of activated T-cells, 90 kD|translational control protein 80 20211016 - 9606 3611 ILK - HEL-S-28|ILK-1|ILK-2|P59|p59ILK MIM:602366|HGNC:HGNC:6040|Ensembl:ENSG00000166333 11 11p15.4 integrin linked kinase protein-coding ILK integrin linked kinase O integrin-linked protein kinase|59 kDa serine/threonine-protein kinase|beta-integrin-linked kinase|epididymis secretory protein Li 28|integrin-linked kinase-2 20211028 - 9606 3612 IMPA1 - IMP|IMPA|MRT59 MIM:602064|HGNC:HGNC:6050|Ensembl:ENSG00000133731 8 8q21.13 inositol monophosphatase 1 protein-coding IMPA1 inositol monophosphatase 1 O inositol monophosphatase 1|D-galactose 1-phosphate phosphatase|IMP 1|IMPase 1|inositol(myo)-1(or 4)-monophosphatase 1|inositol-1(or 4)-monophosphatase 1|lithium-sensitive myo-inositol monophosphatase A1|myo-inositol monophosphatase 1|testicular tissue protein Li 94 20210731 - 9606 3613 IMPA2 - - MIM:605922|HGNC:HGNC:6051|Ensembl:ENSG00000141401 18 18p11.21 inositol monophosphatase 2 protein-coding IMPA2 inositol monophosphatase 2 O inositol monophosphatase 2|IMP 2|IMPase 2|inosine monophosphatase 2|inositol monophosphatase 2 variant 1|inositol monophosphatase 2 variant 2|inositol(myo)-1(or 4)-monophosphatase 2|myo-inositol monophosphatase 2|myo-inositol monophosphatase A2 20210708 - 9606 3614 IMPDH1 - IMPD|IMPD1|IMPDH-I|LCA11|RP10|sWSS2608 MIM:146690|HGNC:HGNC:6052|Ensembl:ENSG00000106348 7 7q32.1 inosine monophosphate dehydrogenase 1 protein-coding IMPDH1 inosine monophosphate dehydrogenase 1 O inosine-5'-monophosphate dehydrogenase 1|IMP (inosine 5'-monophosphate) dehydrogenase 1|IMP (inosine monophosphate) dehydrogenase 1|IMPD 1|IMPDH 1 20211016 - 9606 3615 IMPDH2 - IMPD2|IMPDH-II MIM:146691|HGNC:HGNC:6053|Ensembl:ENSG00000178035 3 3p21.31 inosine monophosphate dehydrogenase 2 protein-coding IMPDH2 inosine monophosphate dehydrogenase 2 O inosine-5'-monophosphate dehydrogenase 2|IMP (inosine 5'-monophosphate) dehydrogenase 2|IMP (inosine monophosphate) dehydrogenase 2|IMP dehydrogenase II|IMP oxireductase 2|IMPD 2|IMPDH 2|epididymis secretory sperm binding protein|inosine 5' phosphate dehydrogenase 2|inosine monophosphate dehydrogenase type II|inosine-5'-monophosphate dehydrogenase type II 20210905 - 9606 3617 IMPG1 - GP147|IPM150|RP91|SPACR|VMD4 MIM:602870|HGNC:HGNC:6055|Ensembl:ENSG00000112706 6 6q14.1 interphotoreceptor matrix proteoglycan 1 protein-coding IMPG1 interphotoreceptor matrix proteoglycan 1 O interphotoreceptor matrix proteoglycan 1|interphotoreceptor matrix proteoglycan of 150 kDa|sialoprotein associated with cones and rods 20210918 - 9606 3619 INCENP - - MIM:604411|HGNC:HGNC:6058|Ensembl:ENSG00000149503 11 11q12.3 inner centromere protein protein-coding INCENP inner centromere protein O inner centromere protein|binds and activates aurora-B and -C in vivo and in vitro|chromosomal passenger protein|inner centromere protein INCENP|inner centromere protein antigens 135/155kDa 20211028 - 9606 3620 IDO1 - IDO|IDO-1|INDO MIM:147435|HGNC:HGNC:6059|Ensembl:ENSG00000131203 8 8p11.21 indoleamine 2,3-dioxygenase 1 protein-coding IDO1 indoleamine 2,3-dioxygenase 1 O indoleamine 2,3-dioxygenase 1|indolamine 2,3 dioxygenase|indole 2,3-dioxygenase|indoleamine-pyrrole 2,3-dioxygenase 20211031 - 9606 3621 ING1 - p24ING1c|p33|p33ING1|p33ING1b|p47|p47ING1a MIM:601566|HGNC:HGNC:6062|Ensembl:ENSG00000153487 13 13q34 inhibitor of growth family member 1 protein-coding ING1 inhibitor of growth family member 1 O inhibitor of growth protein 1|growth inhibitor ING1|growth inhibitory protein ING1|tumor suppressor ING1 20211017 - 9606 3622 ING2 - ING1L|p33ING2 MIM:604215|HGNC:HGNC:6063|Ensembl:ENSG00000168556 4 4q35.1 inhibitor of growth family member 2 protein-coding ING2 inhibitor of growth family member 2 O inhibitor of growth protein 2|ING1Lp|inhibitor of growth 1-like protein|p32 20210906 - 9606 3623 INHA - - MIM:147380|HGNC:HGNC:6065|Ensembl:ENSG00000123999 2 2q35 inhibin subunit alpha protein-coding INHA inhibin subunit alpha O inhibin alpha chain|A-inhibin subunit|inhibin alpha subunit 20210719 - 9606 3624 INHBA - EDF|FRP MIM:147290|HGNC:HGNC:6066|Ensembl:ENSG00000122641 7 7p14.1 inhibin subunit beta A protein-coding INHBA inhibin subunit beta A O inhibin beta A chain|FSH-releasing protein|Inhibin, beta-1|activin beta-A chain|erythroid differentiation factor|erythroid differentiation protein|follicle-stimulating hormone-releasing protein|inhibin beta A subunit|inhibin, beta A (activin A, activin AB alpha polypeptide) 20211017 - 9606 3625 INHBB - - MIM:147390|HGNC:HGNC:6067|Ensembl:ENSG00000163083 2 2q14.2 inhibin subunit beta B protein-coding INHBB inhibin subunit beta B O inhibin beta B chain|Inhibin, beta-2|activin AB beta polypeptide|activin beta-B chain|inhibin beta B subunit 20210611 - 9606 3626 INHBC - IHBC MIM:601233|HGNC:HGNC:6068|Ensembl:ENSG00000175189 12 12q13.3 inhibin subunit beta C protein-coding INHBC inhibin subunit beta C O inhibin beta C chain|activin beta-C chain|inhibin beta C subunit 20210611 - 9606 3627 CXCL10 - C7|IFI10|INP10|IP-10|SCYB10|crg-2|gIP-10|mob-1 MIM:147310|HGNC:HGNC:10637|Ensembl:ENSG00000169245 4 4q21.1 C-X-C motif chemokine ligand 10 protein-coding CXCL10 C-X-C motif chemokine ligand 10 O C-X-C motif chemokine 10|10 kDa interferon gamma-induced protein|gamma IP10|interferon-inducible cytokine IP-10|protein 10 from interferon (gamma)-induced cell line|small inducible cytokine subfamily B (Cys-X-Cys), member 10|small-inducible cytokine B10 20211031 - 9606 3628 INPP1 - - MIM:147263|HGNC:HGNC:6071|Ensembl:ENSG00000151689 2 2q32.2 inositol polyphosphate-1-phosphatase protein-coding INPP1 inositol polyphosphate-1-phosphatase O inositol polyphosphate 1-phosphatase|IPP|IPPase 20210708 - 9606 3630 INS - IDDM|IDDM1|IDDM2|ILPR|IRDN|MODY10|PNDM4 MIM:176730|HGNC:HGNC:6081|Ensembl:ENSG00000254647 11 11p15.5 insulin protein-coding INS insulin O insulin|preproinsulin|proinsulin 20211031 - 9606 3631 INPP4A - INPP4|TVAS1 MIM:600916|HGNC:HGNC:6074|Ensembl:ENSG00000040933 2 2q11.2 inositol polyphosphate-4-phosphatase type I A protein-coding INPP4A inositol polyphosphate-4-phosphatase type I A O inositol polyphosphate-4-phosphatase type I A|inositol polyphosphate-4-phosphatase, type I, 107kD|inositol polyphosphate-4-phosphatase, type I, 107kDa|type I inositol 3,4-bisphosphate 4-phosphatase 20210708 - 9606 3632 INPP5A - 5PTASE MIM:600106|HGNC:HGNC:6076|Ensembl:ENSG00000068383 10 10q26.3 inositol polyphosphate-5-phosphatase A protein-coding INPP5A inositol polyphosphate-5-phosphatase A O inositol polyphosphate-5-phosphatase A|43 kDa inositol polyphosphate 5-phophatase|43 kDa inositol polyphosphate 5-phosphatase|CTCL tumor antigen HD-CL-02|InsP3 5-phosphatase|inositol polyphosphate-5-phosphatase, 40kD|inositol polyphosphate-5-phosphatase, 40kDa|inositol trisphosphate-5-phosphatase, 40kD|type I inositol 1,4,5-trisphosphate 5-phosphatase|type I inositol-1,4,5-trisphosphate 5-phophatase 20210708 - 9606 3633 INPP5B - 5PTase MIM:147264|HGNC:HGNC:6077|Ensembl:ENSG00000204084 1 1p34.3 inositol polyphosphate-5-phosphatase B protein-coding INPP5B inositol polyphosphate-5-phosphatase B O type II inositol 1,4,5-trisphosphate 5-phosphatase|inositol polyphosphate-5-phosphatase, 75kDa|phosphoinositide 5-phosphatase 20210708 - 9606 3635 INPP5D - SHIP|SHIP-1|SHIP1|SIP-145|hp51CN|p150Ship MIM:601582|HGNC:HGNC:6079|Ensembl:ENSG00000168918 2 2q37.1 inositol polyphosphate-5-phosphatase D protein-coding INPP5D inositol polyphosphate-5-phosphatase D O phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1|SH2 domain-containing inositol 5'-phosphatase 1|inositol polyphosphate-5-phosphatase, 145kD|inositol polyphosphate-5-phosphatase, 145kDa|phosphatidylinositol 4,5-bisphosphate 5-phosphatase|signaling inositol polyphosphate 5 phosphatase SIP-145|signaling inositol polyphosphate phosphatase SHIP II 20210708 - 9606 3636 INPPL1 - OPSMD|SHIP2 MIM:600829|HGNC:HGNC:6080|Ensembl:ENSG00000165458 11 11q13.4 inositol polyphosphate phosphatase like 1 protein-coding INPPL1 inositol polyphosphate phosphatase like 1 O phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2|51C protein|INPPL-1|SH2 domain-containing inositol-5'-phosphatase 2|SHIP-2|protein 51C 20211031 - 9606 3638 INSIG1 - CL6 MIM:602055|HGNC:HGNC:6083|Ensembl:ENSG00000186480 7 7q36.3 insulin induced gene 1 protein-coding INSIG1 insulin induced gene 1 O insulin-induced gene 1 protein|INSIG-1 membrane protein 20210719 - 9606 3640 INSL3 - RLF|RLNL|ley-I-L MIM:146738|HGNC:HGNC:6086|Ensembl:ENSG00000248099 19 19p13.11 insulin like 3 protein-coding INSL3 insulin like 3 O insulin-like 3|insulin-like 3 (Leydig cell)|leydig insulin -like hormone|leydig insulin-like peptide|prepro-INSL3|relaxin-like factor b 20211017 - 9606 3641 INSL4 - EPIL|PLACENTIN MIM:600910|HGNC:HGNC:6087|Ensembl:ENSG00000120211 9 9p24.1 insulin like 4 protein-coding INSL4 insulin like 4 O early placenta insulin-like peptide|early placenta insulin-like peptide (EPIL)|insulin-like 4 (placenta)|insulin-like peptide 4 20210611 - 9606 3642 INSM1 - IA-1|IA1 MIM:600010|HGNC:HGNC:6090|Ensembl:ENSG00000173404 20 20p11.23 INSM transcriptional repressor 1 protein-coding INSM1 INSM transcriptional repressor 1 O insulinoma-associated protein 1|insulinoma-associated 1|zinc finger protein IA-1 20211017 - 9606 3643 INSR - CD220|HHF5 MIM:147670|HGNC:HGNC:6091|Ensembl:ENSG00000171105 19 19p13.2 insulin receptor protein-coding INSR insulin receptor O insulin receptor|IR 20211026 - 9606 3645 INSRR - IRR MIM:147671|HGNC:HGNC:6093|Ensembl:ENSG00000027644 1 1q23.1 insulin receptor related receptor protein-coding INSRR insulin receptor related receptor O insulin receptor-related protein|IR-related receptor 20210611 - 9606 3646 EIF3E - EIF3-P48|EIF3S6|INT6|eIF3-p46 MIM:602210|HGNC:HGNC:3277|Ensembl:ENSG00000104408 8 8q23.1 eukaryotic translation initiation factor 3 subunit E protein-coding EIF3E eukaryotic translation initiation factor 3 subunit E O eukaryotic translation initiation factor 3 subunit E|eIF-3 p48|eukaryotic translation initiation factor 3 subunit 6|eukaryotic translation initiation factor 3, subunit 6 (48kD)|eukaryotic translation initiation factor 3, subunit 6 48kDa|mammary tumor-associated protein INT6|murine mammary tumor integration site 6 (oncogene homolog)|viral integration site protein INT-6 homolog 20210905 - 9606 3647 EIF3EP1 - EIF3EP|EIF3S6P1|INT6P1 HGNC:HGNC:6102|Ensembl:ENSG00000234882 6 6q13 eukaryotic translation initiation factor 3 subunit E pseudogene 1 pseudo EIF3EP1 eukaryotic translation initiation factor 3 subunit E pseudogene 1 O eukaryotic translation initiation factor 3, subunit 6 48kDa pseudogene 1|eukaryotic translation initiation factor 3, subunit E pseudogene|murine mammary tumor integration site 6 (oncogene homolog) pseudogene 1 20210916 - 9606 3651 PDX1 - GSF|IDX-1|IPF1|IUF1|MODY4|PAGEN1|PDX-1|STF-1 MIM:600733|HGNC:HGNC:6107|Ensembl:ENSG00000139515 13 13q12.2 pancreatic and duodenal homeobox 1 protein-coding PDX1 pancreatic and duodenal homeobox 1 O pancreas/duodenum homeobox protein 1|IPF-1|IUF-1|glucose-sensitive factor|insulin promoter factor 1, homeodomain transcription factor|insulin upstream factor 1|islet/duodenum homeobox-1|pancreatic-duodenal homeobox factor 1|somatostatin transcription factor 1|somatostatin-transactivating factor 1 20210822 - 9606 3652 IPP - KLHL27 MIM:147485|HGNC:HGNC:6108|Ensembl:ENSG00000197429 1 1p34.1 intracisternal A particle-promoted polypeptide protein-coding IPP intracisternal A particle-promoted polypeptide O actin-binding protein IPP|kelch-like family member 27|kelch-like protein 27 20210905 - 9606 3653 IPW - NCRNA00002 MIM:601491|HGNC:HGNC:6109 15 15q11.2 imprinted in Prader-Willi syndrome ncRNA IPW imprinted in Prader-Willi syndrome O imprinted in Prader-Willi syndrome (non-protein coding)|non-protein coding RNA 2 20210721 - 9606 3654 IRAK1 - IRAK|pelle MIM:300283|HGNC:HGNC:6112|Ensembl:ENSG00000184216 X Xq28 interleukin 1 receptor associated kinase 1 protein-coding IRAK1 interleukin 1 receptor associated kinase 1 O interleukin-1 receptor-associated kinase 1|IRAK-1|Pelle homolog 20211028 - 9606 3655 ITGA6 - CD49f|ITGA6B|VLA-6 MIM:147556|HGNC:HGNC:6142|Ensembl:ENSG00000091409 2 2q31.1 integrin subunit alpha 6 protein-coding ITGA6 integrin subunit alpha 6 O integrin alpha-6|CD49 antigen-like family member F|integrin alpha6B|integrin, alpha 6 20211016 - 9606 3656 IRAK2 - IRAK-2 MIM:603304|HGNC:HGNC:6113|Ensembl:ENSG00000134070 3 3p25.3 interleukin 1 receptor associated kinase 2 protein-coding IRAK2 interleukin 1 receptor associated kinase 2 O interleukin-1 receptor-associated kinase-like 2 20210802 - 9606 3658 IREB2 - ACO3|IRE-BP 2|IRE-BP2|IRP2|IRP2AD|NDCAMA MIM:147582|HGNC:HGNC:6115|Ensembl:ENSG00000136381 15 15q25.1 iron responsive element binding protein 2 protein-coding IREB2 iron responsive element binding protein 2 O iron-responsive element-binding protein 2|iron regulatory protein 2 20210808 - 9606 3659 IRF1 - IRF-1|MAR MIM:147575|HGNC:HGNC:6116|Ensembl:ENSG00000125347 5 5q31.1 interferon regulatory factor 1 protein-coding IRF1 interferon regulatory factor 1 O interferon regulatory factor 1 20211026 - 9606 3660 IRF2 - IRF-2 MIM:147576|HGNC:HGNC:6117|Ensembl:ENSG00000168310 4 4q35.1 interferon regulatory factor 2 protein-coding IRF2 interferon regulatory factor 2 O interferon regulatory factor 2 20210808 - 9606 3661 IRF3 - IIAE7 MIM:603734|HGNC:HGNC:6118|Ensembl:ENSG00000126456 19 19q13.33 interferon regulatory factor 3 protein-coding IRF3 interferon regulatory factor 3 O interferon regulatory factor 3 20211026 - 9606 3662 IRF4 - LSIRF|MUM1|NF-EM5|SHEP8 MIM:601900|HGNC:HGNC:6119|Ensembl:ENSG00000137265 6 6p25.3 interferon regulatory factor 4 protein-coding IRF4 interferon regulatory factor 4 O interferon regulatory factor 4|lymphocyte-specific interferon regulatory factor|multiple myeloma oncogene 1 20211026 - 9606 3663 IRF5 - SLEB10 MIM:607218|HGNC:HGNC:6120|Ensembl:ENSG00000128604 7 7q32.1 interferon regulatory factor 5 protein-coding IRF5 interferon regulatory factor 5 O interferon regulatory factor 5 20210926 - 9606 3664 IRF6 - LPS|OFC6|PIT|PPS|PPS1|VWS|VWS1 MIM:607199|HGNC:HGNC:6121|Ensembl:ENSG00000117595 1 1q32.2 interferon regulatory factor 6 protein-coding IRF6 interferon regulatory factor 6 O interferon regulatory factor 6 20211017 - 9606 3665 IRF7 - IMD39|IRF-7|IRF-7H|IRF7A|IRF7B|IRF7C|IRF7H MIM:605047|HGNC:HGNC:6122|Ensembl:ENSG00000185507 11 11p15.5 interferon regulatory factor 7 protein-coding IRF7 interferon regulatory factor 7 O interferon regulatory factor 7|interferon regulatory factor-7H 20211017 - 9606 3667 IRS1 - HIRS-1 MIM:147545|HGNC:HGNC:6125|Ensembl:ENSG00000169047 2 2q36.3 insulin receptor substrate 1 protein-coding IRS1 insulin receptor substrate 1 O insulin receptor substrate 1 20211031 - 9606 3669 ISG20 - CD25|HEM45 MIM:604533|HGNC:HGNC:6130|Ensembl:ENSG00000172183 15 15q26.1 interferon stimulated exonuclease gene 20 protein-coding ISG20 interferon stimulated exonuclease gene 20 O interferon-stimulated gene 20 kDa protein|estrogen-regulated transcript 45 protein|interferon stimulated exonuclease gene 20kDa|promyelocytic leukemia nuclear body-associated protein ISG20 20211031 - 9606 3670 ISL1 - ISLET1|Isl-1 MIM:600366|HGNC:HGNC:6132|Ensembl:ENSG00000016082 5 5q11.1 ISL LIM homeobox 1 protein-coding ISL1 ISL LIM homeobox 1 O insulin gene enhancer protein ISL-1|islet-1 20211026 - 9606 3671 ISLR - HsT17563|Meflin MIM:602059|HGNC:HGNC:6133|Ensembl:ENSG00000129009 15 15q24.1 immunoglobulin superfamily containing leucine rich repeat protein-coding ISLR immunoglobulin superfamily containing leucine rich repeat O immunoglobulin superfamily containing leucine-rich repeat protein|mesenchymal stromal cell- and fibroblast-expressing Linx paralogue 20210809 - 9606 3672 ITGA1 - CD49a|VLA1 MIM:192968|HGNC:HGNC:6134|Ensembl:ENSG00000213949 5 5q11.2 integrin subunit alpha 1 protein-coding ITGA1 integrin subunit alpha 1 O integrin alpha-1|CD49 antigen-like family member A|VLA-1|laminin and collagen receptor|very late activation protein 1|very late antigen-1 20210917 - 9606 3673 ITGA2 - BR|CD49B|GPIa|HPA-5|VLA-2|VLAA2 MIM:192974|HGNC:HGNC:6137|Ensembl:ENSG00000164171 5 5q11.2 integrin subunit alpha 2 protein-coding ITGA2 integrin subunit alpha 2 O integrin alpha-2|CD49 antigen-like family member B|alpha 2 subunit of VLA-2 receptor|collagen receptor|human platelet alloantigen system 5|integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)|platelet antigen Br|platelet glycoprotein GPIa|platelet membrane glycoprotein Ia|very late activation protein 2 receptor, alpha-2 subunit 20211017 - 9606 3674 ITGA2B - BDPLT16|BDPLT2|CD41|CD41B|GP2B|GPIIb|GT|GT1|GTA|HPA3|PPP1R93 MIM:607759|HGNC:HGNC:6138|Ensembl:ENSG00000005961 17 17q21.31 integrin subunit alpha 2b protein-coding ITGA2B integrin subunit alpha 2b O integrin alpha-IIb|GPalpha IIb|alphaIIb protein|integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)|platelet fibrinogen receptor, alpha subunit|platelet glycoprotein IIb of IIb/IIIa complex|platelet membrane glycoprotein IIb|platelet-specific antigen BAK|protein phosphatase 1, regulatory subunit 93 20210906 - 9606 3675 ITGA3 - CD49C|FRP-2|GAP-B3|GAPB3|ILNEB|MSK18|VCA-2|VL3A|VLA3a MIM:605025|HGNC:HGNC:6139|Ensembl:ENSG00000005884 17 17q21.33 integrin subunit alpha 3 protein-coding ITGA3 integrin subunit alpha 3 O integrin alpha-3|CD49 antigen-like family member C|alpha 3 subunit of VLA-3 receptor|antigen CD49C|antigen identified by monoclonal antibody J143|galactoprotein B3|integrin alpha 3|integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)|testicular tissue protein Li 96|testicular tissue protein Li 98|very late activation protein 3 receptor, alpha-3 subunit 20210926 - 9606 3676 ITGA4 - CD49D|IA4 MIM:192975|HGNC:HGNC:6140|Ensembl:ENSG00000115232 2 2q31.3 integrin subunit alpha 4 protein-coding ITGA4 integrin subunit alpha 4 O integrin alpha-4|269C wild type|CD49 antigen-like family member D|VLA-4 subunit alpha|alpha 4 subunit of VLA-4 receptor|antigen CD49D, alpha-4 subunit of VLA-4 receptor|integrin alpha-IV|very late activation protein 4 receptor, alpha 4 subunit 20211003 - 9606 3678 ITGA5 - CD49e|FNRA|VLA-5|VLA5A MIM:135620|HGNC:HGNC:6141|Ensembl:ENSG00000161638 12 12q13.13 integrin subunit alpha 5 protein-coding ITGA5 integrin subunit alpha 5 O integrin alpha-5|CD49 antigen-like family member E|ITGA5/SLC9B1 fusion|fibronectin receptor subunit alpha|fibronectin receptor, alpha polypeptide|fibronectin receptor, alpha subunit|integrin alpha-F|integrin, alpha 5 (fibronectin receptor, alpha polypeptide)|very late activation protein 5, alpha subunit 20211031 - 9606 3679 ITGA7 - - MIM:600536|HGNC:HGNC:6143|Ensembl:ENSG00000135424 12 12q13.2 integrin subunit alpha 7 protein-coding ITGA7 integrin subunit alpha 7 O integrin alpha-7|integrin alpha 7 chain 20210708 - 9606 3680 ITGA9 - ALPHA-RLC|ITGA4L|RLC MIM:603963|HGNC:HGNC:6145|Ensembl:ENSG00000144668 3 3p22.2 integrin subunit alpha 9 protein-coding ITGA9 integrin subunit alpha 9 O integrin alpha-9|integrin alpha-RLC 20210708 - 9606 3681 ITGAD - ADB2|CD11D MIM:602453|HGNC:HGNC:6146|Ensembl:ENSG00000156886 16 16p11.2 integrin subunit alpha D protein-coding ITGAD integrin subunit alpha D O integrin alpha-D|CD11 antigen-like family member D|beta-2 integrin alphaD subunit|leukointegrin alpha D 20210708 - 9606 3682 ITGAE - CD103|HUMINAE MIM:604682|HGNC:HGNC:6147|Ensembl:ENSG00000083457 17 17p13.2 integrin subunit alpha E protein-coding ITGAE integrin subunit alpha E O integrin alpha-E|HML-1 antigen|antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide|human mucosal lymphocyte antigen 1, alpha polypeptide|integrin alpha-IEL|integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)|mucosal lymphocyte 1 antigen 20210708 - 9606 3683 ITGAL - CD11A|LFA-1|LFA1A MIM:153370|HGNC:HGNC:6148|Ensembl:ENSG00000005844 16 16p11.2 integrin subunit alpha L protein-coding ITGAL integrin subunit alpha L O integrin alpha-L|CD11 antigen-like family member A|LFA-1 alpha|LFA-1A|antigen CD11A (p180), lymphocyte function-associated antigen 1, alpha polypeptide|integrin gene promoter|integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)|leukocyte adhesion glycoprotein LFA-1 alpha chain|leukocyte function-associated molecule 1 alpha chain|lymphocyte function-associated antigen 1, alpha polypeptide 20210905 - 9606 3684 ITGAM - CD11B|CR3A|MAC-1|MAC1A|MO1A|SLEB6 MIM:120980|HGNC:HGNC:6149|Ensembl:ENSG00000169896 16 16p11.2 integrin subunit alpha M protein-coding ITGAM integrin subunit alpha M O integrin alpha-M|CD11 antigen-like family member B|CR-3 alpha chain|antigen CD11b (p170)|cell surface glycoprotein MAC-1 subunit alpha|complement component 3 receptor 3 subunit|integrin, alpha M (complement component 3 receptor 3 subunit)|leukocyte adhesion receptor MO1|macrophage antigen alpha polypeptide|macrophage-1 antigen alpha subunit|neutrophil adherence receptor alpha-M subunit 20211017 - 9606 3685 ITGAV - CD51|MSK8|VNRA|VTNR MIM:193210|HGNC:HGNC:6150|Ensembl:ENSG00000138448 2 2q32.1 integrin subunit alpha V protein-coding ITGAV integrin subunit alpha V O integrin alpha-V|antigen identified by monoclonal antibody L230|integrin alphaVbeta3|integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)|vitronectin receptor subunit alpha 20211031 - 9606 3687 ITGAX - CD11C|SLEB6 MIM:151510|HGNC:HGNC:6152|Ensembl:ENSG00000140678 16 16p11.2 integrin subunit alpha X protein-coding ITGAX integrin subunit alpha X O integrin alpha-X|CD11 antigen-like family member C|complement component 3 receptor 4 subunit|integrin alpha X|integrin, alpha X (antigen CD11C (p150), alpha polypeptide)|integrin, alpha X (complement component 3 receptor 4 subunit)|leu M5, alpha subunit|leukocyte adhesion glycoprotein p150,95 alpha chain|leukocyte adhesion receptor p150,95|leukocyte surface antigen p150,95, alpha subunit|myeloid membrane antigen, alpha subunit|p150 95 integrin alpha chain 20210919 - 9606 3688 ITGB1 - CD29|FNRB|GPIIA|MDF2|MSK12|VLA-BETA|VLAB MIM:135630|HGNC:HGNC:6153|Ensembl:ENSG00000150093 10 10p11.22 integrin subunit beta 1 protein-coding ITGB1 integrin subunit beta 1 O integrin beta-1|glycoprotein IIa|integrin VLA-4 beta subunit|integrin beta 1|integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)|very late activation protein, beta polypeptide 20211026 - 9606 3689 ITGB2 - CD18|LAD|LCAMB|LFA-1|MAC-1|MF17|MFI7 MIM:600065|HGNC:HGNC:6155|Ensembl:ENSG00000160255 21 21q22.3 integrin subunit beta 2 protein-coding ITGB2 integrin subunit beta 2 O integrin beta-2|cell surface adhesion glycoprotein (LFA-1/CR3/P150,959 beta subunit precursor)|complement component 3 receptor 3 and 4 subunit|complement receptor C3 beta-subunit|integrin beta chain, beta 2|integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)|leukocyte cell adhesion molecule CD18|leukocyte-associated antigens CD18/11A, CD18/11B, CD18/11C|truncated integrin beta-2 20211017 - 9606 3690 ITGB3 - BDPLT16|BDPLT2|BDPLT24|CD61|GP3A|GPIIIa|GT|GT2 MIM:173470|HGNC:HGNC:6156|Ensembl:ENSG00000259207 17 17q21.32 integrin subunit beta 3 protein-coding ITGB3 integrin subunit beta 3 O integrin beta-3|antigen CD61|integrin beta 3|integrin beta chain, beta 3|integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)|platelet membrane glycoprotein IIIa 20211026 - 9606 3691 ITGB4 - CD104|GP150 MIM:147557|HGNC:HGNC:6158|Ensembl:ENSG00000132470 17 17q25.1 integrin subunit beta 4 protein-coding ITGB4 integrin subunit beta 4 O integrin beta-4|CD104 antigen 20211026 - 9606 3692 EIF6 - CAB|EIF3A|ITGB4BP|b(2)gcn|eIF-6|p27(BBP)|p27BBP MIM:602912|HGNC:HGNC:6159|Ensembl:ENSG00000242372 20 20q11.22 eukaryotic translation initiation factor 6 protein-coding EIF6 eukaryotic translation initiation factor 6 O eukaryotic translation initiation factor 6|B4 integrin interactor|eukaryotic translation initiation factor 3A|p27 beta-4 integrin-binding protein 20210919 - 9606 3693 ITGB5 - - MIM:147561|HGNC:HGNC:6160|Ensembl:ENSG00000082781 3 3q21.2 integrin subunit beta 5 protein-coding ITGB5 integrin subunit beta 5 O integrin beta-5|testis secretory sperm-binding protein Li 217p 20210708 - 9606 3694 ITGB6 - AI1H MIM:147558|HGNC:HGNC:6161|Ensembl:ENSG00000115221 2 2q24.2 integrin subunit beta 6 protein-coding ITGB6 integrin subunit beta 6 O integrin beta-6|integrin, beta 6 20210926 - 9606 3695 ITGB7 - - MIM:147559|HGNC:HGNC:6162|Ensembl:ENSG00000139626 12 12q13.13 integrin subunit beta 7 protein-coding ITGB7 integrin subunit beta 7 O integrin beta-7|gut homing receptor beta subunit|integrin beta 7 subunit 20210906 - 9606 3696 ITGB8 - - MIM:604160|HGNC:HGNC:6163|Ensembl:ENSG00000105855 7 7p21.1 integrin subunit beta 8 protein-coding ITGB8 integrin subunit beta 8 O integrin beta-8 20210905 - 9606 3697 ITIH1 - H1P|IATIH|IGHEP1|ITI-HC1|ITIH|SHAP MIM:147270|HGNC:HGNC:6166|Ensembl:ENSG00000055957 3 3p21.1 inter-alpha-trypsin inhibitor heavy chain 1 protein-coding ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 O inter-alpha-trypsin inhibitor heavy chain H1|ITI heavy chain H1|inter-alpha (globulin) inhibitor, H1 polypeptide|inter-alpha-inhibitor heavy chain 1|inter-alpha-trypsin inhibitor complex component III|serum-derived hyaluronan-associated protein 20210802 - 9606 3698 ITIH2 - H2P|SHAP MIM:146640|HGNC:HGNC:6167|Ensembl:ENSG00000151655 10 10p14 inter-alpha-trypsin inhibitor heavy chain 2 protein-coding ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 O inter-alpha-trypsin inhibitor heavy chain H2|ITI heavy chain H2|ITI-HC2|inter-alpha (globulin) inhibitor H2|inter-alpha (globulin) inhibitor, H2 polypeptide|inter-alpha-inhibitor heavy chain 2|inter-alpha-trypsin inhibitor complex component II|serum-derived hyaluronan-associated protein 20210905 - 9606 3699 ITIH3 - H3P|ITI-HC3|SHAP MIM:146650|HGNC:HGNC:6168|Ensembl:ENSG00000162267 3 3p21.1 inter-alpha-trypsin inhibitor heavy chain 3 protein-coding ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 O inter-alpha-trypsin inhibitor heavy chain H3|ITI heavy chain H3|inter-alpha (globulin) inhibitor H3|inter-alpha (globulin) inhibitor, H3 polypeptide|inter-alpha-inhibitor heavy chain 3|pre-alpha (globulin) inhibitor, H3 polypeptide|serum-derived hyaluronan-associated protein 20210708 - 9606 3700 ITIH4 - GP120|H4P|IHRP|ITI-HC4|ITIHL1|PK-120|PK120 MIM:600564|HGNC:HGNC:6169|Ensembl:ENSG00000055955 3 3p21.1 inter-alpha-trypsin inhibitor heavy chain 4 protein-coding ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 O inter-alpha-trypsin inhibitor heavy chain H4|ITI heavy chain H4|inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)|inter-alpha-inhibitor heavy chain 4|inter-alpha-trypsin inhibitor family heavy chain-related protein|inter-alpha-trypsin inhibitor heavy chain family member 4|inter-alpha-trypsin inhibitor, heavy chain-like, 1|plasma kallikrein-sensitive glycoprotein 120 20211003 - 9606 3702 ITK - EMT|LPFS1|LYK|PSCTK2 MIM:186973|HGNC:HGNC:6171|Ensembl:ENSG00000113263 5 5q33.3 IL2 inducible T cell kinase protein-coding ITK IL2 inducible T cell kinase O tyrosine-protein kinase ITK/TSK|IL-2-inducible T-cell kinase|T-cell-specific kinase|homolog of mouse T-cell itk/tsk|interleukin-2-inducible T-cell kinase|kinase EMT|tyrosine-protein kinase LYK 20210919 - 9606 3703 STT3A - ITM1|STT3-A|TMC MIM:601134|HGNC:HGNC:6172|Ensembl:ENSG00000134910 11 11q24.2 STT3 oligosaccharyltransferase complex catalytic subunit A protein-coding STT3A STT3 oligosaccharyltransferase complex catalytic subunit A O dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A|B5|STT3, subunit of the oligosaccharyltransferase complex, homolog A|STT3A, catalytic subunit of the oligosaccharyltransferase complex|STT3A, subunit of the oligosaccharyltransferase complex (catalytic)|dolichyl-diphosphooligosaccharide protein glycotransferase|integral membrane protein 1|integral transmembrane protein 1|oligosaccharyl transferase subunit STT3A|transmembrane conserved|transmembrane protein TMC 20210905 - 9606 3704 ITPA - C20orf37|DEE35|HLC14-06-P|ITPase|My049|NTPase|dJ794I6.3 MIM:147520|HGNC:HGNC:6176|Ensembl:ENSG00000125877 20 20p13 inosine triphosphatase protein-coding ITPA inosine triphosphatase O inosine triphosphate pyrophosphatase|epididymis secretory sperm binding protein|inosine triphosphatase (nucleoside triphosphate pyrophosphatase)|inosine triphosphate pyrophosphohydrolase|non-canonical purine NTP pyrophosphatase|non-standard purine NTP pyrophosphatase|nucleoside-triphosphate diphosphatase|putative oncogene protein HLC14-06-P 20210726 - 9606 3705 ITPK1 - ITRPK1 MIM:601838|HGNC:HGNC:6177|Ensembl:ENSG00000100605 14 14q32.12 inositol-tetrakisphosphate 1-kinase protein-coding ITPK1 inositol-tetrakisphosphate 1-kinase O inositol-tetrakisphosphate 1-kinase|inositol 1,3,4-trisphosphate 5/6-kinase|ins(1,3,4)P(3) 5/6-kinase 20211028 - 9606 3706 ITPKA - IP3-3KA|IP3KA MIM:147521|HGNC:HGNC:6178|Ensembl:ENSG00000137825 15 15q15.1 inositol-trisphosphate 3-kinase A protein-coding ITPKA inositol-trisphosphate 3-kinase A O inositol-trisphosphate 3-kinase A|IP3 3-kinase A|IP3K A|inositol 1,4,5-trisphosphate 3-kinase A|insP 3-kinase A 20210802 - 9606 3707 ITPKB - IP3-3KB|IP3K|IP3K-B|IP3KB|PIG37 MIM:147522|HGNC:HGNC:6179|Ensembl:ENSG00000143772 1 1q42.12 inositol-trisphosphate 3-kinase B protein-coding ITPKB inositol-trisphosphate 3-kinase B O inositol-trisphosphate 3-kinase B|IP3 3-kinase B|IP3K B|inositol 1,4,5-trisphosphate 3-kinase B|insP 3-kinase B|proliferation-inducing protein 37 20211016 - 9606 3708 ITPR1 - ACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29 MIM:147265|HGNC:HGNC:6180|Ensembl:ENSG00000150995 3 3p26.1 inositol 1,4,5-trisphosphate receptor type 1 protein-coding ITPR1 inositol 1,4,5-trisphosphate receptor type 1 O inositol 1,4,5-trisphosphate receptor type 1|IP3 receptor|IP3R 1|inositol 1,4,5-triphosphate receptor, type 1|protein phosphatase 1, regulatory subunit 94|type 1 InsP3 receptor|type 1 inositol 1,4,5-trisphosphate receptor 20211031 - 9606 3709 ITPR2 - ANHD|CFAP48|INSP3R2|IP3R2 MIM:600144|HGNC:HGNC:6181|Ensembl:ENSG00000123104 12 12p11.23 inositol 1,4,5-trisphosphate receptor type 2 protein-coding ITPR2 inositol 1,4,5-trisphosphate receptor type 2 O inositol 1,4,5-trisphosphate receptor type 2|IP3 receptor|IP3R 2|cilia and flagella associated protein 48|type 2 InsP3 receptor 20210708 - 9606 3710 ITPR3 - IP3R|IP3R3 MIM:147267|HGNC:HGNC:6182|Ensembl:ENSG00000096433 6 6p21.31 inositol 1,4,5-trisphosphate receptor type 3 protein-coding ITPR3 inositol 1,4,5-trisphosphate receptor type 3 O inositol 1,4,5-trisphosphate receptor type 3|IP3 receptor|inositol 1,4,5-triphosphate receptor, type 3|insP3R3|type 3 InsP3 receptor 20211017 - 9606 3712 IVD - ACAD2|IVDH MIM:607036|HGNC:HGNC:6186|Ensembl:ENSG00000128928 15 15q15.1 isovaleryl-CoA dehydrogenase protein-coding IVD isovaleryl-CoA dehydrogenase O isovaleryl-CoA dehydrogenase, mitochondrial|butyryl-CoA dehydrogenase|epididymis secretory sperm binding protein|isovaleryl Coenzyme A dehydrogenase 20211016 - 9606 3713 IVL - - MIM:147360|HGNC:HGNC:6187|Ensembl:ENSG00000163207 1 1q21.3 involucrin protein-coding IVL involucrin O involucrin 20210708 - 9606 3714 JAG2 - HJ2|LGMDR27|SER2 MIM:602570|HGNC:HGNC:6189|Ensembl:ENSG00000184916 14 14q32.33 jagged canonical Notch ligand 2 protein-coding JAG2 jagged canonical Notch ligand 2 O protein jagged-2|jagged 2 20211030 - 9606 3716 JAK1 - AIIDE|JAK1A|JAK1B|JTK3 MIM:147795|HGNC:HGNC:6190|Ensembl:ENSG00000162434 1 1p31.3 Janus kinase 1 protein-coding JAK1 Janus kinase 1 O tyrosine-protein kinase JAK1 20211017 - 9606 3717 JAK2 - JTK10 MIM:147796|HGNC:HGNC:6192|Ensembl:ENSG00000096968 9 9p24.1 Janus kinase 2 protein-coding JAK2 Janus kinase 2 O tyrosine-protein kinase JAK2|JAK-2|Janus kinase 2 (a protein tyrosine kinase) 20211026 - 9606 3718 JAK3 - JAK-3|JAK3_HUMAN|JAKL|L-JAK|LJAK MIM:600173|HGNC:HGNC:6193|Ensembl:ENSG00000105639 19 19p13.11 Janus kinase 3 protein-coding JAK3 Janus kinase 3 O tyrosine-protein kinase JAK3|Janus kinase 3 (a protein tyrosine kinase, leukocyte)|leukocyte Janus kinase 20211026 - 9606 3719 JBS - - MIM:147791 11 11q24.1 Jacobsen syndrome unknown - - - - 20191002 - 9606 3720 JARID2 - JMJ MIM:601594|HGNC:HGNC:6196|Ensembl:ENSG00000008083 6 6p22.3 jumonji and AT-rich interaction domain containing 2 protein-coding JARID2 jumonji and AT-rich interaction domain containing 2 O protein Jumonji|jumonji homolog|jumonji, AT rich interactive domain 2|jumonji-like protein|jumonji/ARID domain-containing protein 2 20211017 - 9606 3725 JUN - AP-1|AP1|c-Jun|cJUN|p39 MIM:165160|HGNC:HGNC:6204|Ensembl:ENSG00000177606 1 1p32.1 Jun proto-oncogene, AP-1 transcription factor subunit protein-coding JUN Jun proto-oncogene, AP-1 transcription factor subunit O transcription factor AP-1|Jun activation domain binding protein|activator protein 1|enhancer-binding protein AP1|jun oncogene|proto-oncogene c-Jun|proto-oncogene cJun|v-jun avian sarcoma virus 17 oncogene homolog|v-jun sarcoma virus 17 oncogene homolog 20211031 - 9606 3726 JUNB - AP-1 MIM:165161|HGNC:HGNC:6205|Ensembl:ENSG00000171223 19 19p13.13 JunB proto-oncogene, AP-1 transcription factor subunit protein-coding JUNB JunB proto-oncogene, AP-1 transcription factor subunit O transcription factor jun-B|activator protein 1|jun B proto-oncogene 20210912 - 9606 3727 JUND - AP-1 MIM:165162|HGNC:HGNC:6206|Ensembl:ENSG00000130522 19 19p13.11 JunD proto-oncogene, AP-1 transcription factor subunit protein-coding JUND JunD proto-oncogene, AP-1 transcription factor subunit O transcription factor jun-D|activator protein 1|jun D proto-oncogene 20210611 - 9606 3728 JUP - CTNNG|DP3|DPIII|PDGB|PG|PKGB MIM:173325|HGNC:HGNC:6207|Ensembl:ENSG00000173801 17 17q21.2 junction plakoglobin protein-coding JUP junction plakoglobin O junction plakoglobin|catenin (cadherin-associated protein), gamma 80kDa|desmoplakin III|desmoplakin-3|desmosomal protein 3 20211026 - 9606 3730 ANOS1 - ADMLX|HH1|HHA|KAL|KAL1|KALIG-1|KMS|WFDC19 MIM:300836|HGNC:HGNC:6211|Ensembl:ENSG00000011201 X Xp22.31 anosmin 1 protein-coding ANOS1 anosmin 1 O anosmin-1|Kallmann syndrome interval gene 1|Kallmann syndrome-1 sequence (anosmin-1)|WAP four-disulfide core domain 19|adhesion molecule-like X-linked|kallmann syndrome protein 20210708 - 9606 3732 CD82 - 4F9|C33|GR15|IA4|KAI1|R2|SAR2|ST6|TSPAN27 MIM:600623|HGNC:HGNC:6210|Ensembl:ENSG00000085117 11 11p11.2 CD82 molecule protein-coding CD82 CD82 molecule O CD82 antigen|C33 antigen|inducible membrane protein R2|kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))|metastasis suppressor Kangai-1|tetraspanin-27|tspan-27 20211031 - 9606 3734 ANOS2P - ADMLY|KAL-Y|KALP HGNC:HGNC:6214 Y Yq11.221 anosmin 2, pseudogene pseudo ANOS2P anosmin 2, pseudogene O Kallmann syndrome sequence pseudogene|WUGSC:H_NH0304C24.2 20210611 - 9606 3735 KARS1 - CMTRIB|DEAPLE|DFNB89|KARS|KARS2|KRS|LEPID MIM:601421|HGNC:HGNC:6215|Ensembl:ENSG00000065427 16 16q23.1 lysyl-tRNA synthetase 1 protein-coding KARS1 lysyl-tRNA synthetase 1 O lysine--tRNA ligase|lysRS|lysine tRNA ligase 20211031 - 9606 3736 KCNA1 - AEMK|EA1|HBK1|HUK1|KV1.1|MBK1|MK1|RBK1 MIM:176260|HGNC:HGNC:6218|Ensembl:ENSG00000111262 12 12p13.32 potassium voltage-gated channel subfamily A member 1 protein-coding KCNA1 potassium voltage-gated channel subfamily A member 1 O potassium voltage-gated channel subfamily A member 1|potassium channel, voltage gated shaker related subfamily A, member 1|potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)|voltage-gated K(+) channel HuKI|voltage-gated potassium channel HBK1|voltage-gated potassium channel subunit Kv1.1 20210919 - 9606 3737 KCNA2 - DEE32|EIEE32|HBK5|HK4|HUKIV|KV1.2|MK2|NGK1|RBK2 MIM:176262|HGNC:HGNC:6220|Ensembl:ENSG00000177301 1 1p13.3 potassium voltage-gated channel subfamily A member 2 protein-coding KCNA2 potassium voltage-gated channel subfamily A member 2 O potassium voltage-gated channel subfamily A member 2|potassium channel, voltage gated shaker related subfamily A, member 2|potassium voltage-gated channel, shaker-related subfamily, member 2|voltage-gated K(+) channel HuKIV|voltage-gated potassium channel HBK5|voltage-gated potassium channel protein Kv1.2|voltage-gated potassium channel subunit Kv1.2 20210711 - 9606 3738 KCNA3 - HGK5|HLK3|HPCN3|HUKIII|KV1.3|MK3|PCN3 MIM:176263|HGNC:HGNC:6221|Ensembl:ENSG00000177272 1 1p13.3 potassium voltage-gated channel subfamily A member 3 protein-coding KCNA3 potassium voltage-gated channel subfamily A member 3 O potassium voltage-gated channel subfamily A member 3|potassium channel 3|potassium channel, voltage gated shaker related subfamily A, member 3|potassium voltage-gated channel, shaker-related subfamily, member 3|type n potassium channel|voltage-gated K(+) channel HuKIII|voltage-gated potassium channel protein Kv1.3|voltage-gated potassium channel subunit Kv1.3 20211017 - 9606 3739 KCNA4 - HBK4|HK1|HPCN2|HUKII|KCNA4L|KCNA8|KV1.4|MCIDDS|PCN2 MIM:176266|HGNC:HGNC:6222|Ensembl:ENSG00000182255 11 11p14.1 potassium voltage-gated channel subfamily A member 4 protein-coding KCNA4 potassium voltage-gated channel subfamily A member 4 O potassium voltage-gated channel subfamily A member 4|cardiac potassium channel|fetal skeletal muscle potassium channel|potassium channel 2|potassium channel, voltage gated shaker related subfamily A, member 4|rapidly inactivating potassium channel|shaker-related potassium channel Kv1.4|type A potassium channel|voltage-gated K(+) channel HuKII|voltage-gated potassium channel HBK4|voltage-gated potassium channel HK1|voltage-gated potassium channel subunit Kv1.4 20210912 - 9606 3741 KCNA5 - ATFB7|HCK1|HK2|HPCN1|KV1.5|PCN1 MIM:176267|HGNC:HGNC:6224|Ensembl:ENSG00000130037 12 12p13.32 potassium voltage-gated channel subfamily A member 5 protein-coding KCNA5 potassium voltage-gated channel subfamily A member 5 O potassium voltage-gated channel subfamily A member 5|cardiac potassium channel|insulinoma and islet potassium channel|potassium channel 1|potassium channel, voltage gated shaker related subfamily A, member 5|potassium voltage-gated channel, shaker-related subfamily, member 5|voltage-gated potassium channel HK2|voltage-gated potassium channel protein Kv1.5|voltage-gated potassium channel subunit Kv1.5 20210905 - 9606 3742 KCNA6 - HBK2|KV1.6|PPP1R96 MIM:176257|HGNC:HGNC:6225|Ensembl:ENSG00000151079 12 12p13.32 potassium voltage-gated channel subfamily A member 6 protein-coding KCNA6 potassium voltage-gated channel subfamily A member 6 O potassium voltage-gated channel subfamily A member 6|human brain potassium channel-2|potassium channel, voltage gated shaker related subfamily A, member 6|potassium voltage-gated channel, shaker-related subfamily, member 6|protein phosphatase 1, regulatory subunit 96|voltage-gated potassium channel HBK2|voltage-gated potassium channel protein Kv1.6|voltage-gated potassium channel subunit Kv1.6 20210708 - 9606 3743 KCNA7 - HAK6|KV1.7 MIM:176268|HGNC:HGNC:6226|Ensembl:ENSG00000104848 19 19q13.33 potassium voltage-gated channel subfamily A member 7 protein-coding KCNA7 potassium voltage-gated channel subfamily A member 7 O potassium voltage-gated channel subfamily A member 7|potassium channel, voltage gated shaker related subfamily A, member 7|potassium voltage-gated channel, shaker-related subfamily, member 7|voltage-dependent potassium channel Kv1.7|voltage-gated potassium channel KCNA7|voltage-gated potassium channel subunit Kv1.7 20210708 - 9606 3744 KCNA10 - Kcn1|Kv1.8 MIM:602420|HGNC:HGNC:6219|Ensembl:ENSG00000143105 1 1p13.3 potassium voltage-gated channel subfamily A member 10 protein-coding KCNA10 potassium voltage-gated channel subfamily A member 10 O potassium voltage-gated channel subfamily A member 10|cyclic GMP gated potassium channel|potassium channel, voltage gated shaker related subfamily A, member 10|potassium voltage-gated channel, shaker-related subfamily, member 10|voltage-gated potassium channel subunit Kv1.8 20210708 - 9606 3745 KCNB1 - DEE26|DRK1|Kv2.1 MIM:600397|HGNC:HGNC:6231|Ensembl:ENSG00000158445 20 20q13.13 potassium voltage-gated channel subfamily B member 1 protein-coding KCNB1 potassium voltage-gated channel subfamily B member 1 O potassium voltage-gated channel subfamily B member 1|delayed rectifier potassium channel 1|potassium voltage-gated channel, Shab-related subfamily, member 1|voltage-gated potassium channel subunit Kv2.1 20211017 - 9606 3746 KCNC1 - EPM7|KV3.1|KV4|NGK2 MIM:176258|HGNC:HGNC:6233|Ensembl:ENSG00000129159 11 11p15.1 potassium voltage-gated channel subfamily C member 1 protein-coding KCNC1 potassium voltage-gated channel subfamily C member 1 O potassium voltage-gated channel subfamily C member 1|potassium channel, voltage gated Shaw related subfamily C, member 1|voltage-gated potassium channel protein KV3.1|voltage-gated potassium channel subunit Kv4 20211003 - 9606 3747 KCNC2 - KV3.2 MIM:176256|HGNC:HGNC:6234|Ensembl:ENSG00000166006 12 12q21.1 potassium voltage-gated channel subfamily C member 2 protein-coding KCNC2 potassium voltage-gated channel subfamily C member 2 O potassium voltage-gated channel subfamily C member 2|potassium channel, voltage gated Shaw related subfamily C, member 2|potassium voltage-gated channel, Shaw-related subfamily, member 2|shaw-like potassium channel|voltage-gated potassium channel Kv3.2 20210708 - 9606 3748 KCNC3 - KSHIIID|KV3.3|SCA13 MIM:176264|HGNC:HGNC:6235|Ensembl:ENSG00000131398 19 19q13.33 potassium voltage-gated channel subfamily C member 3 protein-coding KCNC3 potassium voltage-gated channel subfamily C member 3 O potassium voltage-gated channel subfamily C member 3|Shaw-related voltage-gated potassium channel protein 3|potassium channel, voltage gated Shaw related subfamily C, member 3|potassium voltage-gated channel, Shaw-related subfamily, member 3|voltage-gated potassium channel protein KV3.3|voltage-gated potassium channel subunit Kv3.3 20210708 - 9606 3749 KCNC4 - C1orf30|HKSHIIIC|KSHIIIC|KV3.4 MIM:176265|HGNC:HGNC:6236|Ensembl:ENSG00000116396 1 1p13.3 potassium voltage-gated channel subfamily C member 4 protein-coding KCNC4 potassium voltage-gated channel subfamily C member 4 O potassium voltage-gated channel subfamily C member 4|K+ channel subunit|potassium channel, voltage gated Shaw related subfamily C, member 4|potassium voltage-gated channel, Shaw-related subfamily, member 4|voltage-gated potassium channel subunit KV3.4 20210708 - 9606 3750 KCND1 - KV4.1 MIM:300281|HGNC:HGNC:6237|Ensembl:ENSG00000102057 X Xp11.23 potassium voltage-gated channel subfamily D member 1 protein-coding KCND1 potassium voltage-gated channel subfamily D member 1 O potassium voltage-gated channel subfamily D member 1|Shal-type potassium channel|potassium channel, voltage gated Shal related subfamily D, member 1|potassium voltage-gated channel, Shal-related subfamily, member 1|voltage-gated potassium channel subunit Kv4.1 20210708 - 9606 3751 KCND2 - KV4.2|RK5 MIM:605410|HGNC:HGNC:6238|Ensembl:ENSG00000184408 7 7q31.31 potassium voltage-gated channel subfamily D member 2 protein-coding KCND2 potassium voltage-gated channel subfamily D member 2 O potassium voltage-gated channel subfamily D member 2|potassium channel, voltage gated Shal related subfamily D, member 2|voltage-gated potassium channel subunit Kv4.2|voltage-sensitive potassium channel 20210708 - 9606 3752 KCND3 - BRGDA9|KCND3L|KCND3S|KSHIVB|KV4.3|SCA19|SCA22 MIM:605411|HGNC:HGNC:6239|Ensembl:ENSG00000171385 1 1p13.2 potassium voltage-gated channel subfamily D member 3 protein-coding KCND3 potassium voltage-gated channel subfamily D member 3 O potassium voltage-gated channel subfamily D member 3|potassium channel, voltage gated Shal related subfamily D, member 3|potassium ionic channel Kv4.3|potassium voltage-gated channel long|potassium voltage-gated channel, Shal-related subfamily, member 3|sha1-related potassium channel Kv4.3|voltage-gated K+ channel|voltage-gated potassium channel subunit Kv4.3 20210906 - 9606 3753 KCNE1 - ISK|JLNS|JLNS2|LQT2/5|LQT5|MinK MIM:176261|HGNC:HGNC:6240|Ensembl:ENSG00000180509 21 21q22.12 potassium voltage-gated channel subfamily E regulatory subunit 1 protein-coding KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 O potassium voltage-gated channel subfamily E member 1|IKs producing slow voltage-gated potassium channel subunit beta Mink|Long QT syndrome 5|cardiac delayed rectifier potassium channel protein|delayed rectifier potassium channel subunit IsK|minimal potassium channel|potassium channel, voltage gated subfamily E regulatory beta subunit 1|potassium voltage-gated channel, Isk-related family, member 1|potassium voltage-gated channel, Isk-related subfamily, member 1|voltage gated potassiun channel accessory subunit 20211017 - 9606 3754 KCNF1 - IK8|KCNF|KV5.1|kH1 MIM:603787|HGNC:HGNC:6246|Ensembl:ENSG00000162975 2 2p25.1 potassium voltage-gated channel modifier subfamily F member 1 protein-coding KCNF1 potassium voltage-gated channel modifier subfamily F member 1 O potassium voltage-gated channel subfamily F member 1|potassium channel KH1|voltage-gated potassium channel subunit Kv5.1 20210708 - 9606 3755 KCNG1 - K13|KCNG|KV6.1|kH2 MIM:603788|HGNC:HGNC:6248|Ensembl:ENSG00000026559 20 20q13.13 potassium voltage-gated channel modifier subfamily G member 1 protein-coding KCNG1 potassium voltage-gated channel modifier subfamily G member 1 O potassium voltage-gated channel subfamily G member 1|potassium channel KH2|potassium channel Kv6.1|potassium channel, voltage gated modifier subfamily G, member 1|potassium voltage-gated channel, subfamily G, member 1|voltage-gated potassium channel subunit Kv6.1 20210905 - 9606 3756 KCNH1 - EAG|EAG1|Kv10.1|TMBTS|ZLS1|h-eag|hEAG|hEAG1 MIM:603305|HGNC:HGNC:6250|Ensembl:ENSG00000143473 1 1q32.2 potassium voltage-gated channel subfamily H member 1 protein-coding KCNH1 potassium voltage-gated channel subfamily H member 1 O potassium voltage-gated channel subfamily H member 1|EAG channel 1|ether-a-go-go 1|ether-a-go-go potassium channel 1|ether-a-go-go, Drosophila, homolog of|potassium channel, voltage gated eag related subfamily H, member 1|potassium voltage-gated channel, subfamily H (eag-related), member 1|voltage-gated potassium channel subunit Kv10.1 20211028 - 9606 3757 KCNH2 - ERG-1|ERG1|H-ERG|HERG|HERG1|Kv11.1|LQT2|SQT1 MIM:152427|HGNC:HGNC:6251|Ensembl:ENSG00000055118 7 7q36.1 potassium voltage-gated channel subfamily H member 2 protein-coding KCNH2 potassium voltage-gated channel subfamily H member 2 O potassium voltage-gated channel subfamily H member 2|eag homolog|eag-related protein 1|ether-a-go-go-related gene potassium channel 1|ether-a-go-go-related potassium channel protein|ether-a-go-go-related protein 1|human ether-a-go-go-related|long QT syndrome type 2|potassium channel, voltage gated eag related subfamily H, member 2|potassium voltage-gated channel, subfamily H (eag-related), member 2|voltage-gated potassium channel subunit Kv11.1 20211028 - 9606 3758 KCNJ1 - KIR1.1|ROMK|ROMK1 MIM:600359|HGNC:HGNC:6255|Ensembl:ENSG00000151704 11 11q24.3 potassium inwardly rectifying channel subfamily J member 1 protein-coding KCNJ1 potassium inwardly rectifying channel subfamily J member 1 O ATP-sensitive inward rectifier potassium channel 1|ATP-regulated potassium channel ROM-K|inward rectifier K(+) channel Kir1.1|inwardly rectifying K+ channel|potassium channel, inwardly rectifying subfamily J member 1|potassium voltage-gated channel subfamily J member 1 20210726 - 9606 3759 KCNJ2 - ATFB9|HHBIRK1|HHIRK1|IRK1|KIR2.1|LQT7|SQT3 MIM:600681|HGNC:HGNC:6263|Ensembl:ENSG00000123700 17 17q24.3 potassium inwardly rectifying channel subfamily J member 2 protein-coding KCNJ2 potassium inwardly rectifying channel subfamily J member 2 O inward rectifier potassium channel 2|IRK-1|cardiac inward rectifier potassium channel|hIRK1|inward rectifier K+ channel KIR2.1|potassium channel, inwardly rectifying subfamily J, member 2|potassium voltage-gated channel subfamily J member 2 20210809 - 9606 3760 KCNJ3 - GIRK1|KGA|KIR3.1 MIM:601534|HGNC:HGNC:6264|Ensembl:ENSG00000162989 2 2q24.1 potassium inwardly rectifying channel subfamily J member 3 protein-coding KCNJ3 potassium inwardly rectifying channel subfamily J member 3 O G protein-activated inward rectifier potassium channel 1|GIRK-1|inward rectifier K(+) channel Kir3.1|inward rectifier K+ channel KIR3.1|potassium channel, inwardly rectifying subfamily J member 3|potassium inwardly-rectifying channel subfamily J member 3 splice variant 1e|potassium voltage-gated channel subfamily J member 3 20210905 - 9606 3761 KCNJ4 - HIR|HIRK2|HRK1|IRK-3|IRK3|Kir2.3 MIM:600504|HGNC:HGNC:6265|Ensembl:ENSG00000168135 22 22q13.1 potassium inwardly rectifying channel subfamily J member 4 protein-coding KCNJ4 potassium inwardly rectifying channel subfamily J member 4 O inward rectifier potassium channel 4|hippocampal inward rectifier potassium channel|inward rectifier K(+) channel Kir2.3|potassium channel, inwardly rectifying subfamily J, member 4|potassium voltage-gated channel subfamily J member 4 20210708 - 9606 3762 KCNJ5 - CIR|GIRK4|KATP1|KIR3.4|LQT13 MIM:600734|HGNC:HGNC:6266|Ensembl:ENSG00000120457 11 11q24.3 potassium inwardly rectifying channel subfamily J member 5 protein-coding KCNJ5 potassium inwardly rectifying channel subfamily J member 5 O G protein-activated inward rectifier potassium channel 4|IRK-4|cardiac ATP-sensitive potassium channel|heart KATP channel|inward rectifier K+ channel KIR3.4|potassium channel, inwardly rectifying subfamily J, member 5|potassium voltage-gated channel subfamily J member 5 20211017 - 9606 3763 KCNJ6 - BIR1|GIRK-2|GIRK2|KATP-2|KATP2|KCNJ7|KIR3.2|KPLBS|hiGIRK2 MIM:600877|HGNC:HGNC:6267|Ensembl:ENSG00000157542 21 21q22.13 potassium inwardly rectifying channel subfamily J member 6 protein-coding KCNJ6 potassium inwardly rectifying channel subfamily J member 6 O G protein-activated inward rectifier potassium channel 2|inward rectifier K(+) channel Kir3.2|inward rectifier potassium channel KIR3.2|potassium channel, inwardly rectifying subfamily J, member 6|potassium voltage-gated channel subfamily J member 6 20211014 - 9606 3764 KCNJ8 - KIR6.1|uKATP-1 MIM:600935|HGNC:HGNC:6269|Ensembl:ENSG00000121361 12 12p12.1 potassium inwardly rectifying channel subfamily J member 8 protein-coding KCNJ8 potassium inwardly rectifying channel subfamily J member 8 O ATP-sensitive inward rectifier potassium channel 8|inward rectifier K(+) channel Kir6.1|inwardly rectifying potassium channel KIR6.1|potassium channel, inwardly rectifying subfamily J member 8|potassium voltage-gated channel subfamily J member 8 20210708 - 9606 3765 KCNJ9 - GIRK3|KIR3.3 MIM:600932|HGNC:HGNC:6270|Ensembl:ENSG00000162728 1 1q23.2 potassium inwardly rectifying channel subfamily J member 9 protein-coding KCNJ9 potassium inwardly rectifying channel subfamily J member 9 O G protein-activated inward rectifier potassium channel 3|G protein-coupled inward rectifier potassium channel|inward rectifier K(+) channel Kir3.3|inwardly rectifier K+ channel KIR3.3|potassium channel, inwardly rectifying subfamily J member 9|potassium voltage-gated channel subfamily J member 9 20210708 - 9606 3766 KCNJ10 - BIRK-10|KCNJ13-PEN|KIR1.2|KIR4.1|SESAME MIM:602208|HGNC:HGNC:6256|Ensembl:ENSG00000177807 1 1q23.2 potassium inwardly rectifying channel subfamily J member 10 protein-coding KCNJ10 potassium inwardly rectifying channel subfamily J member 10 O ATP-sensitive inward rectifier potassium channel 10|ATP-dependent inwardly rectifying potassium channel Kir4.1|glial ATP-dependent inwardly rectifying potassium channel KIR4.1|inward rectifier K(+) channel Kir1.2|inward rectifier K+ channel KIR1.2|potassium channel, inwardly rectifying subfamily J member 10|potassium voltage-gated channel subfamily J member 10 20210926 - 9606 3767 KCNJ11 - BIR|HHF2|IKATP|KIR6.2|MODY13|PHHI|PNDM2|TNDM3 MIM:600937|HGNC:HGNC:6257|Ensembl:ENSG00000187486 11 11p15.1 potassium inwardly rectifying channel subfamily J member 11 protein-coding KCNJ11 potassium inwardly rectifying channel subfamily J member 11 O ATP-sensitive inward rectifier potassium channel 11|beta-cell inward rectifier subunit|inward rectifier K(+) channel Kir6.2|inwardly rectifing potassium channel subfamily J member 11|inwardly rectifying potassium channel KIR6.2|inwardly-rectifying potassium channel subfamily J member 11|potassium channel inwardly rectifing subfamily J member 11|potassium channel, inwardly rectifying subfamily J member 11|potassium voltage-gated channel subfamily J member 11 20211017 - 9606 3768 KCNJ12 - IRK-2|IRK2|KCNJN1|Kir2.2|Kir2.2v|hIRK|hIRK1|hkir2.2x|kcnj12x MIM:602323|HGNC:HGNC:6258|Ensembl:ENSG00000184185 17 17p11.2 potassium inwardly rectifying channel subfamily J member 12 protein-coding KCNJ12 potassium inwardly rectifying channel subfamily J member 12 O ATP-sensitive inward rectifier potassium channel 12|inward rectifier K(+) channel Kir2.2v|inward rectifier K(+) channel Kir2.6|potassium channel, inwardly rectifying subfamily J, member 12|potassium inwardly-rectifying channel, subfamily J, inhibitor 1|potassium voltage-gated channel subfamily J member 12 20210708 - 9606 3769 KCNJ13 - KIR1.4|KIR7.1|LCA16|SVD MIM:603208|HGNC:HGNC:6259|Ensembl:ENSG00000115474 2 2q37.1 potassium inwardly rectifying channel subfamily J member 13 protein-coding KCNJ13 potassium inwardly rectifying channel subfamily J member 13 O inward rectifier potassium channel 13|inward rectifier K(+) channel Kir7.1|potassium channel, inwardly rectifying subfamily J, member 13|potassium voltage-gated channel subfamily J member 13 20210611 - 9606 3770 KCNJ14 - IRK4|KIR2.4 MIM:603953|HGNC:HGNC:6260|Ensembl:ENSG00000182324 19 19q13.33 potassium inwardly rectifying channel subfamily J member 14 protein-coding KCNJ14 potassium inwardly rectifying channel subfamily J member 14 O ATP-sensitive inward rectifier potassium channel 14|inward rectifier K(+) channel Kir2.4|inwardly rectifying potassium channel KIR2.4|potassium channel, inwardly rectifying subfamily J member 14|potassium voltage-gated channel subfamily J member 14 20210708 - 9606 3772 KCNJ15 - IRKK|KIR1.3|KIR4.2 MIM:602106|HGNC:HGNC:6261|Ensembl:ENSG00000157551 21 21q22.13-q22.2 potassium inwardly rectifying channel subfamily J member 15 protein-coding KCNJ15 potassium inwardly rectifying channel subfamily J member 15 O ATP-sensitive inward rectifier potassium channel 15|inward rectifier K(+) channel Kir1.3|inward rectifier K(+) channel Kir4.2|inward rectifier K+ channel KIR4.2|potassium channel, inwardly rectifying subfamily J member 15|potassium voltage-gated channel subfamily J member 15 20210802 - 9606 3773 KCNJ16 - BIR9|HKTD|KIR5.1 MIM:605722|HGNC:HGNC:6262|Ensembl:ENSG00000153822 17 17q24.3 potassium inwardly rectifying channel subfamily J member 16 protein-coding KCNJ16 potassium inwardly rectifying channel subfamily J member 16 O inward rectifier potassium channel 16|inward rectifier K(+) channel Kir5.1|inward rectifier K+ channel KIR5.1|potassium channel, inwardly rectifying subfamily J member 16|potassium voltage-gated channel subfamily J member 16 20211017 - 9606 3775 KCNK1 - DPK|HOHO|K2P1|K2p1.1|KCNO1|TWIK-1|TWIK1 MIM:601745|HGNC:HGNC:6272|Ensembl:ENSG00000135750 1 1q42.2 potassium two pore domain channel subfamily K member 1 protein-coding KCNK1 potassium two pore domain channel subfamily K member 1 O potassium channel subfamily K member 1|inward rectifying potassium channel protein TWIK-1|potassium channel K2P1|potassium channel KCNO1|potassium channel, two pore domain subfamily K, member 1|potassium inwardly-rectifying channel, subfamily K, member 1|tandem of P domains in a weak inward rectifying K+ channel 1 20210708 - 9606 3776 KCNK2 - K2p2.1|TPKC1|TREK|TREK-1|TREK1|hTREK-1c|hTREK-1e MIM:603219|HGNC:HGNC:6277|Ensembl:ENSG00000082482 1 1q41 potassium two pore domain channel subfamily K member 2 protein-coding KCNK2 potassium two pore domain channel subfamily K member 2 O potassium channel subfamily K member 2|K2P2.1 potassium channel|TREK-1 K(+) channel subunit|TWIK-related potassium channel 1|outward rectifying potassium channel protein TREK-1|potassium channel subfamily k member 2 variant 1|potassium channel subfamily k member 2 variant 2|potassium channel, two pore domain subfamily K, member 2|potassium inwardly-rectifying channel, subfamily K, member 2|tandem-pore-domain potassium channel TREK-1|two pore domain potassium channel TREK-1|two pore potassium channel TPKC1|two-pore potassium channel 1 20210912 - 9606 3777 KCNK3 - K2p3.1|OAT1|PPH4|TASK|TASK-1|TASK1|TBAK1 MIM:603220|HGNC:HGNC:6278|Ensembl:ENSG00000171303 2 2p23.3 potassium two pore domain channel subfamily K member 3 protein-coding KCNK3 potassium two pore domain channel subfamily K member 3 O potassium channel subfamily K member 3|TWIK-related acid-sensitive K(+) channel 1|TWIK-related acid-sensitive K+ 1|TWIK-related acid-sensitive K+ channel|acid-sensitive potassium channel protein TASK|acid-sensitive potassium channel protein TASK-1|cardiac potassium channel|potassium channel, two pore domain subfamily K, member 3|potassium inwardly-rectifying channel, subfamily K, member 3|two P domain potassium channel|two pore K(+) channel KT3.1|two pore potassium channel KT3.1 20210912 - 9606 3778 KCNMA1 - BKTM|CADEDS|IEG16|KCa1.1|LIWAS|MaxiK|PNKD3|SAKCA|SLO|SLO-ALPHA|SLO1|bA205K10.1|hSlo|mSLO1 MIM:600150|HGNC:HGNC:6284|Ensembl:ENSG00000156113 10 10q22.3 potassium calcium-activated channel subfamily M alpha 1 protein-coding KCNMA1 potassium calcium-activated channel subfamily M alpha 1 O Calcium-activated potassium channel subunit alpha-1|calcium-activated potassium channel subunit alpha-1|BK channel alpha subunit|BKCA alpha subunit|big potassium channel alpha subunit|calcium-activated potassium channel, subfamily M subunit alpha-1|k(VCA)alpha|maxi-K channel HSLO|potassium channel, calcium activated large conductance subfamily M alpha, member 1|potassium large conductance calcium-activated channel, subfamily M, alpha member 1|slo homolog|slowpoke homolog|stretch-activated Kca channel 20211017 - 9606 3779 KCNMB1 - BKbeta1|K(VCA)beta|SLO-BETA|hbeta1|hslo-beta|k(VCA)beta-1|slo-beta-1 MIM:603951|HGNC:HGNC:6285|Ensembl:ENSG00000145936 5 5q35.1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 protein-coding KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 O calcium-activated potassium channel subunit beta-1|BK channel beta subunit 1|BK channel subunit beta-1|MaxiK channel beta-subunit 1|big potassium channel beta subunit 1|calcium-activated potassium channel, subfamily M subunit beta-1|charybdotoxin receptor subunit beta-1|large conductance Ca2+-activated K+ channel beta 1 subunit|maxi K channel subunit beta-1|potassium channel subfamily M regulatory beta subunit 1|potassium large conductance calcium-activated channel, subfamily M, beta member 1 20210708 - 9606 3780 KCNN1 - KCa2.1|SK1|SKCA1|hSK1 MIM:602982|HGNC:HGNC:6290|Ensembl:ENSG00000105642 19 19p13.11 potassium calcium-activated channel subfamily N member 1 protein-coding KCNN1 potassium calcium-activated channel subfamily N member 1 O small conductance calcium-activated potassium channel protein 1|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1|potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1|small conductance calcium-activated potassium channel 1 20210906 - 9606 3781 KCNN2 - KCa2.2|SK2|SKCA2|SKCa 2|hSK2 MIM:605879|HGNC:HGNC:6291|Ensembl:ENSG00000080709 5 5q22.3 potassium calcium-activated channel subfamily N member 2 protein-coding KCNN2 potassium calcium-activated channel subfamily N member 2 O small conductance calcium-activated potassium channel protein 2|apamin-sensitive small-conductance Ca2+-activated potassium channel|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2|potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2|small conductance calcium-activated potassium channel 2 20210708 - 9606 3782 KCNN3 - KCa2.3|SK3|SKCA3|ZLS3|hSK3 MIM:602983|HGNC:HGNC:6292|Ensembl:ENSG00000143603 1 1q21.3 potassium calcium-activated channel subfamily N member 3 protein-coding KCNN3 potassium calcium-activated channel subfamily N member 3 O small conductance calcium-activated potassium channel protein 3|SKCa 3|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3|potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3|small conductance calcium-activated potassium channel 3 20210708 - 9606 3783 KCNN4 - DHS2|IK|IK1|IKCA1|KCA4|KCa3.1|SK4|hIKCa1|hKCa4|hSK4 MIM:602754|HGNC:HGNC:6293|Ensembl:ENSG00000104783 19 19q13.31 potassium calcium-activated channel subfamily N member 4 protein-coding KCNN4 potassium calcium-activated channel subfamily N member 4 O intermediate conductance calcium-activated potassium channel protein 4|SKCa 4|SKCa4|intermediate-conductance Ca2+-activated K+ channel, KCa3.1|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4|potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4|putative Gardos channel|putative erythrocyte intermediate conductance calcium-activated potassium Gardos channel|small conductance calcium-activated potassium channel 4 20211017 - 9606 3784 KCNQ1 - ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRS MIM:607542|HGNC:HGNC:6294|Ensembl:ENSG00000053918 11 11p15.5-p15.4 potassium voltage-gated channel subfamily Q member 1 protein-coding KCNQ1 potassium voltage-gated channel subfamily Q member 1 O potassium voltage-gated channel subfamily KQT member 1|IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1|kidney and cardiac voltage dependend K+ channel|potassium channel, voltage gated KQT-like subfamily Q, member 1|potassium voltage-gated channel, KQT-like subfamily, member 1|slow delayed rectifier channel subunit|voltage-gated potassium channel subunit Kv7.1 20211031 - 9606 3785 KCNQ2 - BFNC|DEE7|EBN|EBN1|ENB1|HNSPC|KCNA11|KV7.2 MIM:602235|HGNC:HGNC:6296|Ensembl:ENSG00000075043 20 20q13.33 potassium voltage-gated channel subfamily Q member 2 protein-coding KCNQ2 potassium voltage-gated channel subfamily Q member 2 O potassium voltage-gated channel subfamily KQT member 2|neuroblastoma-specific potassium channel subunit alpha KvLQT2|potassium channel, voltage gated KQT-like subfamily Q, member 2|voltage-gated potassium channel subunit Kv7.2 20211026 - 9606 3786 KCNQ3 - BFNC2|EBN2|KV7.3 MIM:602232|HGNC:HGNC:6297|Ensembl:ENSG00000184156 8 8q24.22 potassium voltage-gated channel subfamily Q member 3 protein-coding KCNQ3 potassium voltage-gated channel subfamily Q member 3 O potassium voltage-gated channel subfamily KQT member 3|potassium channel subunit alpha KvLQT3|potassium channel, voltage gated KQT-like subfamily Q, member 3|potassium channel, voltage-gated, subfamily Q, member 3|potassium voltage-gated channel, KQT-like subfamily, member 3|voltage-gated potassium channel subunit Kv7.3 20210809 - 9606 3787 KCNS1 - Kv9.1 MIM:602905|HGNC:HGNC:6300|Ensembl:ENSG00000124134 20 20q13.12 potassium voltage-gated channel modifier subfamily S member 1 protein-coding KCNS1 potassium voltage-gated channel modifier subfamily S member 1 O potassium voltage-gated channel subfamily S member 1|delayed-rectifier K(+) channel alpha subunit 1|potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1|voltage-gated potassium channel subunit Kv9.1 20210708 - 9606 3788 KCNS2 - KV9.2 MIM:602906|HGNC:HGNC:6301|Ensembl:ENSG00000156486 8 8q22.2 potassium voltage-gated channel modifier subfamily S member 2 protein-coding KCNS2 potassium voltage-gated channel modifier subfamily S member 2 O potassium voltage-gated channel subfamily S member 2|delayed-rectifier K(+) channel alpha subunit 2|potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2|voltage-gated potassium channel subunit Kv9.2 20210708 - 9606 3790 KCNS3 - KV9.3 MIM:603888|HGNC:HGNC:6302|Ensembl:ENSG00000170745 2 2p24.2 potassium voltage-gated channel modifier subfamily S member 3 protein-coding KCNS3 potassium voltage-gated channel modifier subfamily S member 3 O potassium voltage-gated channel subfamily S member 3|Shab-related delayed-rectifier K+ channel alpha subunit 3|delayed-rectifier K(+) channel alpha subunit 3|potassium voltage-gated channel delayed-rectifier protein S3|potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3|voltage-gated potassium channel protein Kv9.3|voltage-gated potassium channel subunit Kv9.3 20210708 - 9606 3791 KDR - CD309|FLK1|VEGFR|VEGFR2 MIM:191306|HGNC:HGNC:6307|Ensembl:ENSG00000128052 4 4q12 kinase insert domain receptor protein-coding KDR kinase insert domain receptor O vascular endothelial growth factor receptor 2|fetal liver kinase-1|kinase insert domain receptor (a type III receptor tyrosine kinase)|protein-tyrosine kinase receptor Flk-1|soluble VEGFR2|tyrosine kinase growth factor receptor 20211031 - 9606 3792 KEL - CD238|ECE3|Kell MIM:613883|HGNC:HGNC:6308|Ensembl:ENSG00000197993 7 7q34 Kell metallo-endopeptidase (Kell blood group) protein-coding KEL Kell metallo-endopeptidase (Kell blood group) O kell blood group glycoprotein|Kell blood group, metallo-endopeptidase|Kell glycoprotein|truncated Kell blood group antigen|truncated Kell blood group glycoprotein 20210920 - 9606 3795 KHK - - MIM:614058|HGNC:HGNC:6315|Ensembl:ENSG00000138030 2 2p23.3 ketohexokinase protein-coding KHK ketohexokinase O ketohexokinase|fructokinase|hepatic fructokinase|testicular tissue protein Li 102 20211016 - 9606 3796 KIF2A - CDCBM3|HK2|KIF2 MIM:602591|HGNC:HGNC:6318|Ensembl:ENSG00000068796 5 5q12.1 kinesin family member 2A protein-coding KIF2A kinesin family member 2A O kinesin-like protein KIF2A|Kinesin, heavy chain, 2|kinesin heavy chain member 2A|kinesin-2 20210809 - 9606 3797 KIF3C - - MIM:602845|HGNC:HGNC:6321|Ensembl:ENSG00000084731 2 2p23.3 kinesin family member 3C protein-coding KIF3C kinesin family member 3C O kinesin-like protein KIF3C|KIF3C variant protein 20210708 - 9606 3798 KIF5A - ALS25|D12S1889|MY050|NEIMY|NKHC|SPG10 MIM:602821|HGNC:HGNC:6323|Ensembl:ENSG00000155980 12 12q13.3 kinesin family member 5A protein-coding KIF5A kinesin family member 5A O kinesin heavy chain isoform 5A|KIF5A variant protein|kinesin heavy chain neuron-specific 1|kinesin, heavy chain, neuron-specific|neuron-specific kinesin heavy chain|neuronal kinesin heavy chain 20211026 - 9606 3799 KIF5B - HEL-S-61|KINH|KNS|KNS1|UKHC MIM:602809|HGNC:HGNC:6324|Ensembl:ENSG00000170759 10 10p11.22 kinesin family member 5B protein-coding KIF5B kinesin family member 5B O kinesin-1 heavy chain|conventional kinesin heavy chain|epididymis secretory protein Li 61|kinesin 1 (110-120kD)|kinesin heavy chain|ubiquitous kinesin heavy chain 20211