List of human genes

List of normal function of normal human genes and their abnormal function leading to human diseases.  A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

A

• AAAS: aladin WD repeat nucleoporin
• AASS: aminoadipate-semialdehyde synthase
• ABAT: 4-aminobutyrate aminotransferase
• ABCA1: ATP binding cassette subfamily A member 1
• ABCA3: ATP binding cassette subfamily A member 3
• ABCA4: ATP binding cassette subfamily A member 4
• ABCA12: ATP binding cassette subfamily A member 12
• ABCB4: ATP binding cassette subfamily B member 4
• ABCB7: ATP binding cassette subfamily B member 7
• ABCB11: ATP binding cassette subfamily B member 11
• ABCC2: ATP binding cassette subfamily C member 2
• ABCC6: ATP binding cassette subfamily C member 6
• ABCC8: ATP binding cassette subfamily C member 8
• ABCC9: ATP binding cassette subfamily C member 9
• ABCD1: ATP binding cassette subfamily D member 1
• ABCD4: ATP binding cassette subfamily D member 4
• ABCG2: ATP binding cassette subfamily G member 2 (Junior blood group)
• ABCG5: ATP binding cassette subfamily G member 5
• ABCG8: ATP binding cassette subfamily G member 8
• ABHD5: abhydrolase domain containing 5
• ABL1: ABL proto-oncogene 1, non-receptor tyrosine kinase
• ACAD8: acyl-CoA dehydrogenase family member 8
• ACAD9: acyl-CoA dehydrogenase family member 9
• ACADM: acyl-CoA dehydrogenase medium chain
• ACADS: acyl-CoA dehydrogenase short chain
• ACADSB: acyl-CoA dehydrogenase short/branched chain
• ACADVL: acyl-CoA dehydrogenase very long chain
• ACAN: aggrecan
• ACAT1: acetyl-CoA acetyltransferase 1
• ACE: angiotensin I converting enzyme
• ACOX1: acyl-CoA oxidase 1
• ACP5: acid phosphatase 5, tartrate resistant
• ACSF3: acyl-CoA synthetase family member 3
• ACTA1: actin, alpha 1, skeletal muscle
• ACTA2: actin, alpha 2, smooth muscle, aorta
• ACTB: actin beta
• ACTG1: actin gamma 1
• ACTG2: actin, gamma 2, smooth muscle, enteric
• ACVR1: activin A receptor type 1
• ACVRL1: activin A receptor like type 1
• ACY1: aminoacylase 1
• ADA: adenosine deaminase
• ADA2: adenosine deaminase 2
• ADAMTS2: ADAM metallopeptidase with thrombospondin type 1 motif 2
• ADAMTS10: ADAM metallopeptidase with thrombospondin type 1 motif 10
• ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif 13
• ADAMTSL2: ADAMTS like 2
• ADAMTSL4: ADAMTS like 4
• ADAR: adenosine deaminase, RNA specific
• ADCY5: adenylate cyclase 5
• ADGRE2: adhesion G protein-coupled receptor E2
• ADGRG1: adhesion G protein-coupled receptor G1
• ADNP: activity dependent neuroprotector homeobox
• ADSL: adenylosuccinate lyase
• AFF2: AF4/FMR2 family member 2
• AFF4: AF4/FMR2 family member 4
• AGA: aspartylglucosaminidase
• AGL: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
• AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2
• AGPS: alkylglycerone phosphate synthase
• AGT: angiotensinogen
• AGTR1: angiotensin II receptor type 1
• AGXT: alanine--glyoxylate and serine--pyruvate aminotransferase
• AHCY: adenosylhomocysteinase
• AHDC1: AT-hook DNA binding motif containing 1
• AIP: aryl hydrocarbon receptor interacting protein
• AIRE: autoimmune regulator
• AKR1D1: aldo-keto reductase family 1 member D1
• AKT1: AKT serine/threonine kinase 1
• AKT3: AKT serine/threonine kinase 3
• ALAD: aminolevulinate dehydratase
• ALAS2: 5'-aminolevulinate synthase 2
• ALDH3A2: aldehyde dehydrogenase 3 family member A2
• ALDH4A1: aldehyde dehydrogenase 4 family member A1
• ALDH5A1: aldehyde dehydrogenase 5 family member A1
• ALDH7A1: aldehyde dehydrogenase 7 family member A1
• ALDOB: aldolase, fructose-bisphosphate B
• ALG1: ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
• ALG6: ALG6, alpha-1,3-glucosyltransferase
• ALG12: ALG12, alpha-1,6-mannosyltransferase
• ALK: ALK receptor tyrosine kinase
• ALMS1: ALMS1, centrosome and basal body associated protein
• ALOX12B: arachidonate 12-lipoxygenase, 12R type
• ALOXE3: arachidonate lipoxygenase 3
• ALPL: alkaline phosphatase, biomineralization associated
• ALS2: ALS2, alsin Rho guanine nucleotide exchange factor
• ALX1: ALX homeobox 1
• ALX3: ALX homeobox 3
• ALX4: ALX homeobox 4
• AMACR: alpha-methylacyl-CoA racemase
• AMELX: amelogenin X-linked
• AMER1: APC membrane recruitment protein 1
• AMH: anti-Mullerian hormone
• AMHR2: anti-Mullerian hormone receptor type 2
• AMN: amnion associated transmembrane protein
• AMPD1: adenosine monophosphate deaminase 1
• AMT: aminomethyltransferase
• ANK1: ankyrin 1
• ANK2: ankyrin 2
• ANKH: ANKH inorganic pyrophosphate transport regulator
• ANKRD11: ankyrin repeat domain 11
• ANO5: anoctamin 5
• ANOS1: anosmin 1
• ANTXR2: ANTXR cell adhesion molecule 2
• APC: APC, WNT signaling pathway regulator
• APOA1: apolipoprotein A1
• APOB: apolipoprotein B
• APOE: apolipoprotein E
• APP: amyloid beta precursor protein
• APRT: adenine phosphoribosyltransferase
• APTX: aprataxin
• AQP2: aquaporin 2
• AR: androgen receptor
• ARFGEF2: ADP ribosylation factor guanine nucleotide exchange factor 2
• ARG1: arginase 1
• ARHGAP31: Rho GTPase activating protein 31
• ARID1A: AT-rich interaction domain 1A
• ARID1B: AT-rich interaction domain 1B
• ARMC5: armadillo repeat containing 5
• ARMS2: age-related maculopathy susceptibility 2
• ARSA: arylsulfatase A
• ARSB: arylsulfatase B
• ARSL: arylsulfatase E
• ARX: aristaless related homeobox
• ASAH1: N-acylsphingosine amidohydrolase 1
• ASH1L: ASH1 like histone lysine methyltransferase
• ASL: argininosuccinate lyase
• ASNS: asparagine synthetase (glutamine-hydrolyzing)
• ASPA: aspartoacylase
• ASPM: abnormal spindle microtubule assembly
• ASS1: argininosuccinate synthase 1
• ASXL1: ASXL transcriptional regulator 1
• ATG16L1: autophagy related 16 like 1
• ATL1: atlastin GTPase 1
• ATM: ATM serine/threonine kinase
• ATN1: atrophin 1
• ATP1A1: ATPase Na+/K+ transporting subunit alpha 1
• ATP1A2: ATPase Na+/K+ transporting subunit alpha 2
• ATP1A3: ATPase Na+/K+ transporting subunit alpha 3
• ATP2A1: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
• ATP2A2: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
• ATP2C1: ATPase secretory pathway Ca2+ transporting 1
• ATP6V0A2: ATPase H+ transporting V0 subunit a2
• ATP6V0A4: ATPase H+ transporting V0 subunit a4
• ATP6V1B1: ATPase H+ transporting V1 subunit B1
• ATP7A: ATPase copper transporting alpha
• ATP7B: ATPase copper transporting beta
• ATP8B1: ATPase phospholipid transporting 8B1
• ATRX: ATRX, chromatin remodeler
• ATXN1: ataxin 1
• ATXN2: ataxin 2
• ATXN3: ataxin 3
• AUH: AU RNA binding methylglutaconyl-CoA hydratase
• AURKC: aurora kinase C
• AVP: arginine vasopressin
• AVPR2: arginine vasopressin receptor 2

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B

• B3GLCT: beta 3-glucosyltransferase
• BAP1: BRCA1 associated protein 1
• BBS1: Bardet-Biedl syndrome 1
• BBS10: Bardet-Biedl syndrome 10
• BCHE: butyrylcholinesterase
• BCKDHA: branched chain keto acid dehydrogenase E1, alpha polypeptide
• BCKDHB: branched chain keto acid dehydrogenase E1 subunit beta
• BCOR: BCL6 corepressor
• BCR: BCR, RhoGEF and GTPase activating protein
• BCS1L: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
• BDNF: brain derived neurotrophic factor
• BEST1: bestrophin 1
• BICD2: BICD cargo adaptor 2
• BIN1: bridging integrator 1
• BLM: BLM RecQ like helicase
• BMPR1A: bone morphogenetic protein receptor type 1A
• BMPR2: bone morphogenetic protein receptor type 2
• BOLA3: bolA family member 3
• BRAF: B-Raf proto-oncogene, serine/threonine kinase
• BRCA1: BRCA1, DNA repair associated
• BRCA2: BRCA2, DNA repair associated
• BSCL2: BSCL2, seipin lipid droplet biogenesis associated
• BSND: barttin CLCNK type accessory beta subunit
• BTD: biotinidase
• BTK: Bruton tyrosine kinase
• BUB1B: BUB1 mitotic checkpoint serine/threonine kinase B

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C

• C2: complement C2
• C3: complement C3
• C8A: complement C8 alpha chain
• C8B: complement C8 beta chain
• C9orf72: chromosome 9 open reading frame 72
• C19orf12: chromosome 19 open reading frame 12
• CA5A: carbonic anhydrase 5A
• CA12: carbonic anhydrase 12
• CACNA1A: calcium voltage-gated channel subunit alpha1 A
• CACNA1C: calcium voltage-gated channel subunit alpha1 C
• CACNA1D: calcium voltage-gated channel subunit alpha1 D
• CACNA1F: calcium voltage-gated channel subunit alpha1 F
• CACNA1S: calcium voltage-gated channel subunit alpha1 S
• CACNB4: calcium voltage-gated channel auxiliary subunit beta 4
• CALR: calreticulin
• CAPN3: calpain 3
• CARD9: caspase recruitment domain family member 9
• CARD11: caspase recruitment domain family member 11
• CARD14: caspase recruitment domain family member 14
• CASK: calcium/calmodulin dependent serine protein kinase
• CASQ2: calsequestrin 2
• CASR: calcium sensing receptor
• CAT: catalase
• CATSPER1: cation channel sperm associated 1
• CATSPER2: cation channel sperm associated 2
• CAV1: caveolin 1
• CAV3: caveolin 3
• CAVIN1: caveolae associated protein 1
• CBFB: core-binding factor subunit beta
• CBS: cystathionine-beta-synthase
• CCBE1: collagen and calcium binding EGF domains 1
• CCM2: CCM2 scaffold protein
• CCN6: cellular communication network factor 6
• CCND2: cyclin D2
• CD40LG: CD40 ligand
• CDAN1: codanin 1
• CDC6: cell division cycle 6
• CDC73: cell division cycle 73
• CDH1: cadherin 1
• CDH23: cadherin related 23
• CDKL5: cyclin dependent kinase like 5
• CDKN1B: cyclin dependent kinase inhibitor 1B
• CDKN1C: cyclin dependent kinase inhibitor 1C
• CDKN2A: cyclin dependent kinase inhibitor 2A
• CDT1: chromatin licensing and DNA replication factor 1
• CEBPA: CCAAT enhancer binding protein alpha
• CEP57: centrosomal protein 57
• CEP290: centrosomal protein 290
• CFH: complement factor H
• CFHR5: complement factor H related 5
• CFI: complement factor I
• CFTR: cystic fibrosis transmembrane conductance regulator
• CHAT: choline O-acetyltransferase
• CHD2: chromodomain helicase DNA binding protein 2
• CHD7: chromodomain helicase DNA binding protein 7
• CHD8: chromodomain helicase DNA binding protein 8
• CHEK2: checkpoint kinase 2
• CHM: CHM, Rab escort protein 1
• CHMP2B: charged multivesicular body protein 2B
• CHN1: chimerin 1
• CHRNA2: cholinergic receptor nicotinic alpha 2 subunit
• CHRNA4: cholinergic receptor nicotinic alpha 4 subunit
• CHRNB2: cholinergic receptor nicotinic beta 2 subunit
• CHRNE: cholinergic receptor nicotinic epsilon subunit
• CHRNG: cholinergic receptor nicotinic gamma subunit
• CHST3: carbohydrate sulfotransferase 3
• CIITA: class II major histocompatibility complex transactivator
• CISD2: CDGSH iron sulfur domain 2
• CLCF1: cardiotrophin like cytokine factor 1
• CLCN1: chloride voltage-gated channel 1
• CLCN2: chloride voltage-gated channel 2
• CLCN5: chloride voltage-gated channel 5
• CLCN7: chloride voltage-gated channel 7
• CLCNKA: chloride voltage-gated channel Ka
• CLCNKB: chloride voltage-gated channel Kb
• CLIP2: CAP-Gly domain containing linker protein 2
• CLN3: CLN3, battenin
• CLN5: CLN5, intracellular trafficking protein
• CLN6: CLN6, transmembrane ER protein
• CLN8: CLN8, transmembrane ER and ERGIC protein
• CLPB: ClpB homolog, mitochondrial AAA ATPase chaperonin
• CLPP: caseinolytic mitochondrial matrix peptidase proteolytic subunit
• CLRN1: clarin 1
• CNBP: CCHC-type zinc finger nucleic acid binding protein
• CNGA3: cyclic nucleotide gated channel alpha 3
• CNGB3: cyclic nucleotide gated channel beta 3
• COG5: component of oligomeric golgi complex 5
• COL1A1: collagen type I alpha 1 chain
• COL1A2: collagen type I alpha 2 chain
• COL2A1: collagen type II alpha 1 chain
• COL3A1: collagen type III alpha 1 chain
• COL4A1: collagen type IV alpha 1 chain
• COL4A3: collagen type IV alpha 3 chain
• COL4A4: collagen type IV alpha 4 chain
• COL4A5: collagen type IV alpha 5 chain
• COL5A1: collagen type V alpha 1 chain
• COL5A2: collagen type V alpha 2 chain
• COL6A1: collagen type VI alpha 1 chain
• COL6A2: collagen type VI alpha 2 chain
• COL6A3: collagen type VI alpha 3 chain
• COL7A1: collagen type VII alpha 1 chain
• COL8A2: collagen type VIII alpha 2 chain
• COL9A1: collagen type IX alpha 1 chain
• COL9A2: collagen type IX alpha 2 chain
• COL9A3: collagen type IX alpha 3 chain
• COL11A1: collagen type XI alpha 1 chain
• COL11A2: collagen type XI alpha 2 chain
• COL17A1: collagen type XVII alpha 1 chain
• COL18A1: collagen type XVIII alpha 1 chain
• COLEC10: collectin subfamily member 10
• COLEC11: collectin subfamily member 11
• COLQ: collagen like tail subunit of asymmetric acetylcholinesterase
• COMP: cartilage oligomeric matrix protein
• COMT: catechol-O-methyltransferase
• COQ2: coenzyme Q2, polyprenyltransferase
• COQ4: coenzyme Q4
• COQ6: coenzyme Q6, monooxygenase
• COQ8A: coenzyme Q8A
• COQ8B: coenzyme Q8B
• CP: ceruloplasmin
• CPOX: coproporphyrinogen oxidase
• CPS1: carbamoyl-phosphate synthase 1
• CPT1A: carnitine palmitoyltransferase 1A
• CPT2: carnitine palmitoyltransferase 2
• CRB1: crumbs 1, cell polarity complex component
• CREBBP: CREB binding protein
• CRLF1: cytokine receptor like factor 1
• CRPPA: CDP-L-ribitol pyrophosphorylase A
• CRTAP: cartilage associated protein
• CRX: cone-rod homeobox
• CSF1R: colony stimulating factor 1 receptor
• CST3: cystatin C
• CSTB: cystatin B
• CTC1: CST telomere replication complex component 1
• CTDP1: CTD phosphatase subunit 1
• CTNNB1: catenin beta 1
• CTNND1: catenin delta 1
• CTNND2: catenin delta 2
• CTNS: cystinosin, lysosomal cystine transporter
• CTSA: cathepsin A
• CTSD: cathepsin D
• CUBN: cubilin
• CUL3: cullin 3
• CUL7: cullin 7
• CXCR4: C-X-C motif chemokine receptor 4
• CYB5R3: cytochrome b5 reductase 3
• CYBA: cytochrome b-245 alpha chain
• CYBB: cytochrome b-245 beta chain
• CYLD: CYLD lysine 63 deubiquitinase
• CYP1B1: cytochrome P450 family 1 subfamily B member 1
• CYP2C9: cytochrome P450 family 2 subfamily C member 9
• CYP2C19: cytochrome P450 family 2 subfamily C member 19
• CYP2R1: cytochrome P450 family 2 subfamily R member 1
• CYP4V2: cytochrome P450 family 4 subfamily V member 2
• CYP7B1: cytochrome P450 family 7 subfamily B member 1
• CYP11B1: cytochrome P450 family 11 subfamily B member 1
• CYP11B2: cytochrome P450 family 11 subfamily B member 2
• CYP17A1: cytochrome P450 family 17 subfamily A member 1
• CYP19A1: cytochrome P450 family 19 subfamily A member 1
• CYP21A2: cytochrome P450 family 21 subfamily A member 2
• CYP24A1: cytochrome P450 family 24 subfamily A member 1
• CYP27A1: cytochrome P450 family 27 subfamily A member 1
• CYP27B1: cytochrome P450 family 27 subfamily B member 1

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D

• D2HGDH: D-2-hydroxyglutarate dehydrogenase
• DARS1: aspartyl-tRNA synthetase
• DARS2: aspartyl-tRNA synthetase 2, mitochondrial
• DBH: dopamine beta-hydroxylase
• DBT: dihydrolipoamide branched chain transacylase E2
• DCAF17: DDB1 and CUL4 associated factor 17
• DCC: DCC netrin 1 receptor
• DCN: decorin
• DCTN1: dynactin subunit 1
• DCX: doublecortin
• DCXR: dicarbonyl and L-xylulose reductase
• DDC: dopa decarboxylase
• DDX11: DEAD/H-box helicase 11
• DEPDC5: DEP domain containing 5
• DES: desmin
• DGUOK: deoxyguanosine kinase
• DHCR7: 7-dehydrocholesterol reductase
• DHCR24: 24-dehydrocholesterol reductase
• DHH: desert hedgehog
• DHODH: dihydroorotate dehydrogenase (quinone)
• DICER1: dicer 1, ribonuclease III
• DKC1: dyskerin pseudouridine synthase 1
• DLAT: dihydrolipoamide S-acetyltransferase
• DLD: dihydrolipoamide dehydrogenase
• DLL3: delta like canonical Notch ligand 3
• DLL4: delta like canonical Notch ligand 4
• DMD: dystrophin
• DMPK: DM1 protein kinase
• DNAH5: dynein axonemal heavy chain 5
• DNAI1: dynein axonemal intermediate chain 1
• DNAJC5: DnaJ heat shock protein family (Hsp40) member C5
• DNAJC19: DnaJ heat shock protein family (Hsp40) member C19
• DNM2: dynamin 2
• DNMT1: DNA methyltransferase 1
• DNMT3A: DNA methyltransferase 3 alpha
• DOCK6: dedicator of cytokinesis 6
• DOCK8: dedicator of cytokinesis 8
• DOK7: docking protein 7
• DOLK: dolichol kinase
• DPY19L2: dpy-19 like 2
• DPYD: dihydropyrimidine dehydrogenase
• DPYS: dihydropyrimidinase
• DRD5: dopamine receptor D5
• DSC2: desmocollin 2
• DSG4: desmoglein 4
• DSP: desmoplakin
• DSPP: dentin sialophosphoprotein
• DUOX2: dual oxidase 2
• DUX4: double homeobox 4
• DVL1: dishevelled segment polarity protein 1
• DVL3: dishevelled segment polarity protein 3
• DYNC1H1: dynein cytoplasmic 1 heavy chain 1
• DYNC2H1: dynein cytoplasmic 2 heavy chain 1
• DYRK1A: dual specificity tyrosine phosphorylation regulated kinase 1A
• DYSF: dysferlin

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E

• EARS2: glutamyl-tRNA synthetase 2, mitochondrial
• EBP: EBP, cholestenol delta-isomerase
• ECM1: extracellular matrix protein 1
• EDA: ectodysplasin A
• EDAR: ectodysplasin A receptor
• EDARADD: EDAR associated death domain
• EDN3: endothelin 3
• EDNRB: endothelin receptor type B
• EFEMP2: EGF containing fibulin extracellular matrix protein 2
• EFHC1: EF-hand domain containing 1
• EFTUD2: elongation factor Tu GTP binding domain containing 2
• EGFR: epidermal growth factor receptor
• EGLN1: egl-9 family hypoxia inducible factor 1
• EHMT1: euchromatic histone lysine methyltransferase 1
• EIF2AK4: eukaryotic translation initiation factor 2 alpha kinase 4
• EIF2B1: eukaryotic translation initiation factor 2B subunit alpha
• EIF2B2: eukaryotic translation initiation factor 2B subunit beta
• EIF2B3: eukaryotic translation initiation factor 2B subunit gamma
• EIF2B4: eukaryotic translation initiation factor 2B subunit delta
• EIF2B5: eukaryotic translation initiation factor 2B subunit epsilon
• ELANE: elastase, neutrophil expressed
• ELN: elastin
• ELOVL4: ELOVL fatty acid elongase 4
• ELP1: elongator complex protein 1
• EMD: emerin
• EMG1: EMG1, N1-specific pseudouridine methyltransferase
• ENAM: enamelin
• ENG: endoglin
• ENPP1: ectonucleotide pyrophosphatase/phosphodiesterase 1
• EOGT: EGF domain specific O-linked N-acetylglucosamine transferase
• EP300: E1A binding protein p300
• EPAS1: endothelial PAS domain protein 1
• EPCAM: epithelial cell adhesion molecule
• EPG5: ectopic P-granules autophagy protein 5 homolog
• EPM2A: EPM2A, laforin glucan phosphatase
• EPOR: erythropoietin receptor
• EPX: eosinophil peroxidase
• ERAP1: endoplasmic reticulum aminopeptidase 1
• ERCC2: ERCC excision repair 2, TFIIH core complex helicase subunit
• ERCC3: ERCC excision repair 3, TFIIH core complex helicase subunit
• ERCC6: ERCC excision repair 6, chromatin remodeling factor
• ERCC8: ERCC excision repair 8, CSA ubiquitin ligase complex subunit
• ESCO2: establishment of sister chromatid cohesion N-acetyltransferase 2
• ETFA: electron transfer flavoprotein subunit alpha
• ETFB: electron transfer flavoprotein subunit beta
• ETFDH: electron transfer flavoprotein dehydrogenase
• ETHE1: ETHE1, persulfide dioxygenase
• ETV6: ETS variant 6
• EVC: EvC ciliary complex subunit 1
• EVC2: EvC ciliary complex subunit 2
• EWSR1: EWS RNA binding protein 1
• EXOSC3: exosome component 3
• EXT1: exostosin glycosyltransferase 1
• EXT2: exostosin glycosyltransferase 2
• EYA1: EYA transcriptional coactivator and phosphatase 1
• EZH2: enhancer of zeste 2 polycomb repressive complex 2 subunit

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F

• F2: coagulation factor II, thrombin
• F5: coagulation factor V
• F7: coagulation factor VII
• F8: coagulation factor VIII
• F9: coagulation factor IX
• F10: coagulation factor X
• F11: coagulation factor XI
• F12: coagulation factor XII
• F13A1: coagulation factor XIII A chain
• F13B: coagulation factor XIII B chain
• FA2H: fatty acid 2-hydroxylase
• FAH: fumarylacetoacetate hydrolase
• FAM83H: family with sequence similarity 83 member H
• FAM111B: family with sequence similarity 111 member B
• FAM126A: family with sequence similarity 126 member A
• FANCA: FA complementation group A
• FANCC: FA complementation group C
• FANCG: FA complementation group G
• FAS: Fas cell surface death receptor
• FAT4: FAT atypical cadherin 4
• FBLN5: fibulin 5
• FBN1: fibrillin 1
• FBN2: fibrillin 2
• FBXL4: F-box and leucine rich repeat protein 4
• FECH: ferrochelatase
• FERMT1: fermitin family member 1
• FGA: fibrinogen alpha chain
• FGB: fibrinogen beta chain
• FGD1: FYVE, RhoGEF and PH domain containing 1
• FGF3: fibroblast growth factor 3
• FGF8: fibroblast growth factor 8
• FGF10: fibroblast growth factor 10
• FGF23: fibroblast growth factor 23
• FGFR1: fibroblast growth factor receptor 1
• FGFR2: fibroblast growth factor receptor 2
• FGFR3: fibroblast growth factor receptor 3
• FGFR4: fibroblast growth factor receptor 4
• FGG: fibrinogen gamma chain
• FH: fumarate hydratase
• FHL1: four and a half LIM domains 1
• FIP1L1: FIP1 like 1 (S. cerevisiae)
• FKBP10: FKBP prolyl isomerase 10
• FKBP14: FKBP prolyl isomerase 14
• FKRP: fukutin related protein
• FKTN: fukutin
• FLCN: folliculin
• FLG: filaggrin
• FLI1: Fli-1 proto-oncogene, ETS transcription factor
• FLNA: filamin A
• FLNB: filamin B
• FLT3: fms related tyrosine kinase 3
• FLT4: fms related tyrosine kinase 4
• FMO3: flavin containing monooxygenase 3
• FMR1: fragile X mental retardation 1
• FN1: fibronectin 1
• FOLR1: folate receptor 1
• FOXC1: forkhead box C1
• FOXC2: forkhead box C2
• FOXF1: forkhead box F1
• FOXG1: forkhead box G1
• FOXL2: forkhead box L2
• FOXN1: forkhead box N1
• FOXP2: forkhead box P2
• FOXP3: forkhead box P3
• FRAS1: Fraser extracellular matrix complex subunit 1
• FREM1: FRAS1 related extracellular matrix 1
• FREM2: FRAS1 related extracellular matrix protein 2
• FRMD7: FERM domain containing 7
• FTCD: formimidoyltransferase cyclodeaminase
• FTL: ferritin light chain
• FUCA1: alpha-L-fucosidase 1
• FUS: FUS RNA binding protein
• FXN: frataxin
• FZD2: frizzled class receptor 2
• FZD4: frizzled class receptor 4
• FZD6: frizzled class receptor 6

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G

• G6PC: glucose-6-phosphatase catalytic subunit
• G6PD: glucose-6-phosphate dehydrogenase
• GAA: glucosidase alpha, acid
• GABRA1: gamma-aminobutyric acid type A receptor alpha1 subunit
• GALC: galactosylceramidase
• GALE: UDP-galactose-4-epimerase
• GALK1: galactokinase 1
• GALNS: galactosamine (N-acetyl)-6-sulfatase
• GALNT3: polypeptide N-acetylgalactosaminyltransferase 3
• GALT: galactose-1-phosphate uridylyltransferase
• GAMT: guanidinoacetate N-methyltransferase
• GAN: gigaxonin
• GARS1: glycyl-tRNA synthetase
• GATA1: GATA binding protein 1
• GATM: glycine amidinotransferase
• GBA: glucosylceramidase beta
• GBE1: 1,4-alpha-glucan branching enzyme 1
• GCDH: glutaryl-CoA dehydrogenase
• GCH1: GTP cyclohydrolase 1
• GDF3: growth differentiation factor 3
• GDF6: growth differentiation factor 6
• GFAP: glial fibrillary acidic protein
• GFM1: G elongation factor mitochondrial 1
• GH1: growth hormone 1
• GHR: growth hormone receptor
• GHRHR: growth hormone releasing hormone receptor
• GJA1: gap junction protein alpha 1
• GJB1: gap junction protein beta 1
• GJB2: gap junction protein beta 2
• GJB3: gap junction protein beta 3
• GJB4: gap junction protein beta 4
• GJB6: gap junction protein beta 6
• GJC2: gap junction protein gamma 2
• GLA: galactosidase alpha
• GLB1: galactosidase beta 1
• GLDC: glycine decarboxylase
• GLI3: GLI family zinc finger 3
• GLRA1: glycine receptor alpha 1
• GM2A: GM2 ganglioside activator
• GNA11: G protein subunit alpha 11
• GNAI3: G protein subunit alpha i3
• GNAQ: G protein subunit alpha q
• GNAS: GNAS complex locus
• GNAT1: G protein subunit alpha transducin 1
• GNAT2: G protein subunit alpha transducin 2
• GNE: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
• GNMT: glycine N-methyltransferase
• GNPAT: glyceronephosphate O-acyltransferase
• GNPTAB: N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
• GNPTG: N-acetylglucosamine-1-phosphate transferase subunit gamma
• GNS: glucosamine (N-acetyl)-6-sulfatase
• GP1BA: glycoprotein Ib platelet subunit alpha
• GP1BB: glycoprotein Ib platelet subunit beta
• GP6: glycoprotein VI platelet
• GP9: glycoprotein IX platelet
• GPC3: glypican 3
• GPHN: gephyrin
• GPI: glucose-6-phosphate isomerase
• GPR101: G protein-coupled receptor 101
• GPR143: G protein-coupled receptor 143
• GRHPR: glyoxylate and hydroxypyruvate reductase
• GRIN2A: glutamate ionotropic receptor NMDA type subunit 2A
• GRIN2B: glutamate ionotropic receptor NMDA type subunit 2B
• GRIP1: glutamate receptor interacting protein 1
• GRM6: glutamate metabotropic receptor 6
• GRN: granulin precursor
• GSN: gelsolin
• GSS: glutathione synthetase
• GTF2H5: general transcription factor IIH subunit 5
• GTF2I: general transcription factor IIi
• GTF2IRD1: GTF2I repeat domain containing 1
• GUCY2D: guanylate cyclase 2D, retinal
• GUSB: glucuronidase beta
• GYS1: glycogen synthase 1
• GYS2: glycogen synthase 2

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H

• H19: H19, imprinted maternally expressed transcript
• HADH: hydroxyacyl-CoA dehydrogenase
• HADHA: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
• HADHB: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
• HAL: histidine ammonia-lyase
• HAMP: hepcidin antimicrobial peptide
• HARS2: histidyl-tRNA synthetase 2, mitochondrial
• HAX1: HCLS1 associated protein X-1
• HBA1: hemoglobin subunit alpha 1
• HBA2: hemoglobin subunit alpha 2
• HBB: hemoglobin subunit beta
• HCCS: holocytochrome c synthase
• HCFC1: host cell factor C1
• HCN4: hyperpolarization activated cyclic nucleotide gated potassium channel 4
• HDAC4: histone deacetylase 4
• HDAC8: histone deacetylase 8
• HEPACAM: hepatic and glial cell adhesion molecule
• HESX1: HESX homeobox 1
• HEXA: hexosaminidase subunit alpha
• HEXB: hexosaminidase subunit beta
• HFE: homeostatic iron regulator
• HGD: homogentisate 1,2-dioxygenase
• HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase
• HINT1: histidine triad nucleotide binding protein 1
• HIVEP2: human immunodeficiency virus type I enhancer binding protein 2
• HJV: hemojuvelin BMP co-receptor
• HLA-B: major histocompatibility complex, class I, B
• HLA-DPB1: major histocompatibility complex, class II, DP beta 1
• HLA-DQA1: major histocompatibility complex, class II, DQ alpha 1
• HLA-DQB1: major histocompatibility complex, class II, DQ beta 1
• HLA-DRB1: major histocompatibility complex, class II, DR beta 1
• HLCS: holocarboxylase synthetase
• HMBS: hydroxymethylbilane synthase
• HMGCL: 3-hydroxy-3-methylglutaryl-CoA lyase
• HNF1B: HNF1 homeobox B
• HOGA1: 4-hydroxy-2-oxoglutarate aldolase 1
• HOXA13: homeobox A13
• HOXB13: homeobox B13
• HPD: 4-hydroxyphenylpyruvate dioxygenase
• HPRT1: hypoxanthine phosphoribosyltransferase 1
• HPS1: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
• HPS3: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
• HPSE2: heparanase 2 (inactive)
• HRAS: HRas proto-oncogene, GTPase
• HSD3B2: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
• HSD3B7: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
• HSD17B3: hydroxysteroid 17-beta dehydrogenase 3
• HSD17B4: hydroxysteroid 17-beta dehydrogenase 4
• HSD17B10: hydroxysteroid 17-beta dehydrogenase 10
• HSPB1: heat shock protein family B (small) member 1
• HSPB8: heat shock protein family B (small) member 8
• HSPG2: heparan sulfate proteoglycan 2
• HTRA1: HtrA serine peptidase 1
• HTT: huntingtin

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I

• IDH1: isocitrate dehydrogenase (NADP(+)) 1, cytosolic
• IDH2: isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
• IDS: iduronate 2-sulfatase
• IDUA: iduronidase, alpha-L-
• IFIH1: interferon induced with helicase C domain 1
• IFT43: intraflagellar transport 43
• IFT80: intraflagellar transport 80
• IFT122: intraflagellar transport 122
• IFT140: intraflagellar transport 140
• IGF2: insulin like growth factor 2
• IGFBP7: insulin like growth factor binding protein 7
• IGHMBP2: immunoglobulin mu DNA binding protein 2
• IKBKG: inhibitor of nuclear factor kappa B kinase subunit gamma
• IL1A: interleukin 1 alpha
• IL2RG: interleukin 2 receptor subunit gamma
• IL7R: interleukin 7 receptor
• IL17RC: interleukin 17 receptor C
• IL23R: interleukin 23 receptor
• IL31RA: interleukin 31 receptor A
• IL36RN: interleukin 36 receptor antagonist
• INS: insulin
• INSR: insulin receptor
• IRAK4: interleukin 1 receptor associated kinase 4
• IRF5: interferon regulatory factor 5
• IRF6: interferon regulatory factor 6
• IRGM: immunity related GTPase M
• ISCU: iron-sulfur cluster assembly enzyme
• ITGA2B: integrin subunit alpha 2b
• ITGA6: integrin subunit alpha 6
• ITGB2: integrin subunit beta 2
• ITGB3: integrin subunit beta 3
• ITGB4: integrin subunit beta 4
• ITM2B: integral membrane protein 2B
• ITPKC: inositol-trisphosphate 3-kinase C
• ITPR1: inositol 1,4,5-trisphosphate receptor type 1
• IVD: isovaleryl-CoA dehydrogenase

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J

• JAG1: jagged 1
• JAK2: Janus kinase 2
• JAK3: Janus kinase 3
• JPH3: junctophilin 3
• JUP: junction plakoglobin

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K

• KANK2: KN motif and ankyrin repeat domains 2
• KANSL1: KAT8 regulatory NSL complex subunit 1
• KAT6B: lysine acetyltransferase 6B
• KCNA1: potassium voltage-gated channel subfamily A member 1
• KCNE1: potassium voltage-gated channel subfamily E regulatory subunit 1
• KCNH2: potassium voltage-gated channel subfamily H member 2
• KCNJ1: potassium voltage-gated channel subfamily J member 1
• KCNJ2: potassium voltage-gated channel subfamily J member 2
• KCNJ5: potassium voltage-gated channel subfamily J member 5
• KCNJ11: potassium voltage-gated channel subfamily J member 11
• KCNK9: potassium two pore domain channel subfamily K member 9
• KCNQ1: potassium voltage-gated channel subfamily Q member 1
• KCNQ1OT1: KCNQ1 opposite strand/antisense transcript 1
• KCNQ2: potassium voltage-gated channel subfamily Q member 2
• KCNQ3: potassium voltage-gated channel subfamily Q member 3
• KCNQ4: potassium voltage-gated channel subfamily Q member 4
• KCNT1: potassium sodium-activated channel subfamily T member 1
• KCTD1: potassium channel tetramerization domain containing 1
• KDM6A: lysine demethylase 6A
• KHDC3L: KH domain containing 3 like, subcortical maternal complex member
• KIF1B: kinesin family member 1B
• KIF7: kinesin family member 7
• KIF21A: kinesin family member 21A
• KIT: KIT proto-oncogene receptor tyrosine kinase
• KL: klotho
• KLHL3: kelch like family member 3
• KLKB1: kallikrein B1
• KLLN: killin, p53 regulated DNA replication inhibitor
• KMT2D: lysine methyltransferase 2D
• KRAS: KRAS proto-oncogene, GTPase
• KRIT1: KRIT1, ankyrin repeat containing
• KRT1: keratin 1
• KRT3: keratin 3
• KRT4: keratin 4
• KRT5: keratin 5
• KRT6A: keratin 6A
• KRT6B: keratin 6B
• KRT6C: keratin 6C
• KRT10: keratin 10
• KRT12: keratin 12
• KRT13: keratin 13
• KRT14: keratin 14
• KRT16: keratin 16
• KRT17: keratin 17
• KRT81: keratin 81
• KRT83: keratin 83
• KRT86: keratin 86

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L

• L1CAM: L1 cell adhesion molecule
• L2HGDH: L-2-hydroxyglutarate dehydrogenase
• LAMA2: laminin subunit alpha 2
• LAMA3: laminin subunit alpha 3
• LAMB3: laminin subunit beta 3
• LAMC2: laminin subunit gamma 2
• LAMP2: lysosomal associated membrane protein 2
• LARGE1: LARGE xylosyl- and glucuronyltransferase 1
• LARS2: leucyl-tRNA synthetase 2, mitochondrial
• LBR: lamin B receptor
• LCAT: lecithin-cholesterol acyltransferase
• LCT: lactase
• LDB3: LIM domain binding 3
• LDHA: lactate dehydrogenase A
• LDHB: lactate dehydrogenase B
• LDLR: low density lipoprotein receptor
• LDLRAP1: low density lipoprotein receptor adaptor protein 1
• LEMD3: LEM domain containing 3
• LEP: leptin
• LEPR: leptin receptor
• LETM1: leucine zipper and EF-hand containing transmembrane protein 1
• LGI1: leucine rich glioma inactivated 1
• LHCGR: luteinizing hormone/choriogonadotropin receptor
• LHX1: LIM homeobox 1
• LIFR: LIF receptor alpha
• LIMK1: LIM domain kinase 1
• LIPA: lipase A, lysosomal acid type
• LIPC: lipase C, hepatic type
• LIPH: lipase H
• LMBRD1: LMBR1 domain containing 1
• LMNA: lamin A/C
• LMNB1: lamin B1
• LMX1B: LIM homeobox transcription factor 1 beta
• LOR: loricrin
• LPAR6: lysophosphatidic acid receptor 6
• LPIN2: lipin 2
• LPL: lipoprotein lipase
• LRP2: LDL receptor related protein 2
• LRP5: LDL receptor related protein 5
• LRRK2: leucine rich repeat kinase 2
• LYST: lysosomal trafficking regulator
• LZTR1: leucine zipper like transcription regulator 1

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M

• MAGT1: magnesium transporter 1
• MAN2B1: mannosidase alpha class 2B member 1
• MANBA: mannosidase beta
• MAOA: monoamine oxidase A
• MAP2K1: mitogen-activated protein kinase kinase 1
• MAP2K2: mitogen-activated protein kinase kinase 2
• MAP3K1: mitogen-activated protein kinase kinase kinase 1
• MAPT: microtubule associated protein tau
• MASP1: mannan binding lectin serine peptidase 1
• MAT1A: methionine adenosyltransferase 1A
• MATN3: matrilin 3
• MATR3: matrin 3
• MBD5: methyl-CpG binding domain protein 5
• MBL2: mannose binding lectin 2
• MC1R: melanocortin 1 receptor
• MC2R: melanocortin 2 receptor
• MCCC1: methylcrotonoyl-CoA carboxylase 1
• MCCC2: methylcrotonoyl-CoA carboxylase 2
• MCEE: methylmalonyl-CoA epimerase
• MCM6: minichromosome maintenance complex component 6
• MCOLN1: mucolipin 1
• MECP2: methyl-CpG binding protein 2
• MED12: mediator complex subunit 12
• MED13L: mediator complex subunit 13 like
• MEFV: MEFV, pyrin innate immunity regulator
• MEGF8: multiple EGF like domains 8
• MEN1: menin 1
• MEOX1: mesenchyme homeobox 1
• MESP2: mesoderm posterior bHLH transcription factor 2
• MFN2: mitofusin 2
• MFSD8: major facilitator superfamily domain containing 8
• MID1: midline 1
• MIR17HG: miR-17-92a-1 cluster host gene
• MIR145: microRNA 145
• MIR146A: microRNA 146a
• MITF: melanocyte inducing transcription factor
• MKKS: McKusick-Kaufman syndrome
• MKRN3: makorin ring finger protein 3
• MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
• MLH1: mutL homolog 1
• MLPH: melanophilin
• MLYCD: malonyl-CoA decarboxylase
• MMAA: metabolism of cobalamin associated A
• MMAB: metabolism of cobalamin associated B
• MMACHC: metabolism of cobalamin associated C
• MMADHC: metabolism of cobalamin associated D
• MMP2: matrix metallopeptidase 2
• MMP14: matrix metallopeptidase 14
• MMP20: matrix metallopeptidase 20
• MMUT: methylmalonyl-CoA mutase
• MOCOS: molybdenum cofactor sulfurase
• MOCS1: molybdenum cofactor synthesis 1
• MOCS2: molybdenum cofactor synthesis 2
• MPL: MPL proto-oncogene, thrombopoietin receptor
• MPLKIP: M-phase specific PLK1 interacting protein
• MPV17: mitochondrial inner membrane protein MPV17
• MPZ: myelin protein zero
• MRAP: melanocortin 2 receptor accessory protein
• MSH2: mutS homolog 2
• MSH6: mutS homolog 6
• MSTN: myostatin
• MSX1: msh homeobox 1
• MSX2: msh homeobox 2
• MT-ATP6: mitochondrially encoded ATP synthase membrane subunit 6
• MT-CYB: mitochondrially encoded cytochrome b
• MT-ND1: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
• MT-ND4: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
• MT-ND4L: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
• MT-ND5: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
• MT-ND6: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
• MT-TE: mitochondrially encoded tRNA glutamic acid
• MT-TH: mitochondrially encoded tRNA histidine
• MT-TK: mitochondrially encoded tRNA lysine
• MT-TL1: mitochondrially encoded tRNA leucine 1 (UUA/G)
• MT-TS1: mitochondrially encoded tRNA serine 1 (UCN)
• MT-TV: mitochondrially encoded tRNA valine
• MTHFR: methylenetetrahydrofolate reductase
• MTM1: myotubularin 1
• MTOR: mechanistic target of rapamycin kinase
• MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
• MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
• MTTP: microsomal triglyceride transfer protein
• MUC1: mucin 1, cell surface associated
• MUTYH: mutY DNA glycosylase
• MVK: mevalonate kinase
• MYBPC1: myosin binding protein C, slow type
• MYBPC3: myosin binding protein C, cardiac
• MYCN: MYCN proto-oncogene, bHLH transcription factor
• MYD88: MYD88, innate immune signal transduction adaptor
• MYH3: myosin heavy chain 3
• MYH6: myosin heavy chain 6
• MYH7: myosin heavy chain 7
• MYH9: myosin heavy chain 9
• MYH11: myosin heavy chain 11
• MYO5A: myosin VA
• MYO5B: myosin VB
• MYO7A: myosin VIIA
• MYOC: myocilin
• MYOT: myotilin

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N

• NAGA: alpha-N-acetylgalactosaminidase
• NAGLU: N-acetyl-alpha-glucosaminidase
• NAGS: N-acetylglutamate synthase
• NBEAL2: neurobeachin like 2
• NBN: nibrin
• NCF1: neutrophil cytosolic factor 1
• NCF2: neutrophil cytosolic factor 2
• NCF4: neutrophil cytosolic factor 4
• NCSTN: nicastrin
• NDP: NDP, norrin cystine knot growth factor
• NEB: nebulin
• NEU1: neuraminidase 1
• NF1: neurofibromin 1
• NF2: neurofibromin 2
• NFKBIA: NFKB inhibitor alpha
• NFU1: NFU1 iron-sulfur cluster scaffold
• NGF: nerve growth factor
• NGLY1: N-glycanase 1
• NHLRC1: NHL repeat containing E3 ubiquitin protein ligase 1
• NIPBL: NIPBL, cohesin loading factor
• NKX2-1: NK2 homeobox 1
• NLRP1: NLR family pyrin domain containing 1
• NLRP3: NLR family pyrin domain containing 3
• NLRP7: NLR family pyrin domain containing 7
• NLRP12: NLR family pyrin domain containing 12
• NNT: nicotinamide nucleotide transhydrogenase
• NOD2: nucleotide binding oligomerization domain containing 2
• NOG: noggin
• NOP56: NOP56 ribonucleoprotein
• NOTCH1: notch 1
• NOTCH2: notch 2
• NOTCH3: notch 3
• NPC1: NPC intracellular cholesterol transporter 1
• NPC2: NPC intracellular cholesterol transporter 2
• NPHP1: nephrocystin 1
• NPHS1: NPHS1, nephrin
• NPHS2: NPHS2, podocin
• NPM1: nucleophosmin 1
• NPRL2: NPR2 like, GATOR1 complex subunit
• NPRL3: NPR3 like, GATOR1 complex subunit
• NR0B1: nuclear receptor subfamily 0 group B member 1
• NR3C2: nuclear receptor subfamily 3 group C member 2
• NR5A1: nuclear receptor subfamily 5 group A member 1
• NRAS: NRAS proto-oncogene, GTPase
• NSD1: nuclear receptor binding SET domain protein 1
• NSD2: nuclear receptor binding SET domain protein 2
• NSDHL: NAD(P) dependent steroid dehydrogenase-like
• NTRK1: neurotrophic receptor tyrosine kinase 1
• NYX: nyctalopin

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O

• OAT: ornithine aminotransferase
• OBSL1: obscurin like 1
• OCA2: OCA2 melanosomal transmembrane protein
• OCRL: OCRL, inositol polyphosphate-5-phosphatase
• OFD1: OFD1, centriole and centriolar satellite protein
• OPA1: OPA1, mitochondrial dynamin like GTPase
• OPA3: OPA3, outer mitochondrial membrane lipid metabolism regulator
• OPN1LW: opsin 1, long wave sensitive
• OPN1MW: opsin 1, medium wave sensitive
• OPN1SW: opsin 1, short wave sensitive
• OPRM1: opioid receptor mu 1
• ORC1: origin recognition complex subunit 1
• ORC4: origin recognition complex subunit 4
• ORC6: origin recognition complex subunit 6
• OSMR: oncostatin M receptor
• OTC: ornithine carbamoyltransferase
• OTULIN: OTU deubiquitinase with linear linkage specificity
• OTX2: orthodenticle homeobox 2
• OXCT1: 3-oxoacid CoA-transferase 1

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P

• P3H1: prolyl 3-hydroxylase 1
• PABPN1: poly(A) binding protein nuclear 1
• PACS1: phosphofurin acidic cluster sorting protein 1
• PADI3: peptidyl arginine deiminase 3
• PAFAH1B1: platelet activating factor acetylhydrolase 1b regulatory subunit 1
• PAH: phenylalanine hydroxylase
• PANK2: pantothenate kinase 2
• PARK7: Parkinsonism associated deglycase
• PAX2: paired box 2
• PAX3: paired box 3
• PAX6: paired box 6
• PAX8: paired box 8
• PC: pyruvate carboxylase
• PCBD1: pterin-4 alpha-carbinolamine dehydratase 1
• PCCA: propionyl-CoA carboxylase subunit alpha
• PCCB: propionyl-CoA carboxylase subunit beta
• PCNT: pericentrin
• PCSK9: proprotein convertase subtilisin/kexin type 9
• PDCD10: programmed cell death 10
• PDE6B: phosphodiesterase 6B
• PDE6C: phosphodiesterase 6C
• PDE6H: phosphodiesterase 6H
• PDGFB: platelet derived growth factor subunit B
• PDGFRA: platelet derived growth factor receptor alpha
• PDGFRB: platelet derived growth factor receptor beta
• PDHA1: pyruvate dehydrogenase E1 alpha 1 subunit
• PDHB: pyruvate dehydrogenase E1 beta subunit
• PDHX: pyruvate dehydrogenase complex component X
• PDP1: pyruvate dehydrogenase phosphatase catalytic subunit 1
• PEPD: peptidase D
• PEX1: peroxisomal biogenesis factor 1
• PEX7: peroxisomal biogenesis factor 7
• PFKM: phosphofructokinase, muscle
• PGAM2: phosphoglycerate mutase 2
• PGAP2: post-GPI attachment to proteins 2
• PGK1: phosphoglycerate kinase 1
• PGM3: phosphoglucomutase 3
• PHEX: phosphate regulating endopeptidase homolog X-linked
• PHF8: PHD finger protein 8
• PHF21A: PHD finger protein 21A
• PHGDH: phosphoglycerate dehydrogenase
• PHKA1: phosphorylase kinase regulatory subunit alpha 1
• PHKA2: phosphorylase kinase regulatory subunit alpha 2
• PHKB: phosphorylase kinase regulatory subunit beta
• PHKG2: phosphorylase kinase catalytic subunit gamma 2
• PHOX2A: paired like homeobox 2A
• PHOX2B: paired like homeobox 2B
• PHYH: phytanoyl-CoA 2-hydroxylase
• PIGA: phosphatidylinositol glycan anchor biosynthesis class A
• PIGO: phosphatidylinositol glycan anchor biosynthesis class O
• PIGV: phosphatidylinositol glycan anchor biosynthesis class V
• PIK3CA: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
• PIK3CD: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
• PIK3R1: phosphoinositide-3-kinase regulatory subunit 1
• PIK3R2: phosphoinositide-3-kinase regulatory subunit 2
• PINK1: PTEN induced kinase 1
• PITX1: paired like homeodomain 1
• PITX2: paired like homeodomain 2
• PKD1: polycystin 1, transient receptor potential channel interacting
• PKD2: polycystin 2, transient receptor potential cation channel
• PKHD1: PKHD1, fibrocystin/polyductin
• PKLR: pyruvate kinase L/R
• PKP2: plakophilin 2
• PLA2G6: phospholipase A2 group VI
• PLAGL1: PLAG1 like zinc finger 1
• PLCB4: phospholipase C beta 4
• PLCG2: phospholipase C gamma 2
• PLEC: plectin
• PLG: plasminogen
• PLOD1: procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
• PLP1: proteolipid protein 1
• PML: promyelocytic leukemia
• PMM2: phosphomannomutase 2
• PMP22: peripheral myelin protein 22
• PMS2: PMS1 homolog 2, mismatch repair system component
• PNKD: PNKD, MBL domain containing
• PNKP: polynucleotide kinase 3'-phosphatase
• PNP: purine nucleoside phosphorylase
• PNPLA2: patatin like phospholipase domain containing 2
• PNPLA3: patatin like phospholipase domain containing 3
• PNPLA6: patatin like phospholipase domain containing 6
• PNPO: pyridoxamine 5'-phosphate oxidase
• POFUT1: protein O-fucosyltransferase 1
• POGLUT1: protein O-glucosyltransferase 1
• POGZ: pogo transposable element derived with ZNF domain
• POLG: DNA polymerase gamma, catalytic subunit
• POLH: DNA polymerase eta
• POLR1C: RNA polymerase I and III subunit C
• POLR1D: RNA polymerase I and III subunit D
• POLR3A: RNA polymerase III subunit A
• POLR3B: RNA polymerase III subunit B
• POMC: proopiomelanocortin
• POMT1: protein O-mannosyltransferase 1
• POMT2: protein O-mannosyltransferase 2
• POR: cytochrome p450 oxidoreductase
• PORCN: porcupine O-acyltransferase
• POU3F4: POU class 3 homeobox 4
• PPOX: protoporphyrinogen oxidase
• PPP2R5D: protein phosphatase 2 regulatory subunit B'delta
• PPT1: palmitoyl-protein thioesterase 1
• PQBP1: polyglutamine binding protein 1
• PRF1: perforin 1
• PRICKLE1: prickle planar cell polarity protein 1
• PRKAG2: protein kinase AMP-activated non-catalytic subunit gamma 2
• PRKAR1A: protein kinase cAMP-dependent type I regulatory subunit alpha
• PRKN: parkin RBR E3 ubiquitin protein ligase
• PRKRA: protein activator of interferon induced protein kinase EIF2AK2
• PRNP: prion protein
• PROC: protein C, inactivator of coagulation factors Va and VIIIa
• PRODH: proline dehydrogenase 1
• PROK2: prokineticin 2
• PROKR2: prokineticin receptor 2
• PROP1: PROP paired-like homeobox 1
• PROS1: protein S
• PRPH2: peripherin 2
• PRPS1: phosphoribosyl pyrophosphate synthetase 1
• PRRT2: proline rich transmembrane protein 2
• PRSS1: serine protease 1
• PSAP: prosaposin
• PSEN1: presenilin 1
• PSEN2: presenilin 2
• PSENEN: presenilin enhancer, gamma-secretase subunit
• PSMB8: proteasome subunit beta 8
• PTCH1: patched 1
• PTEN: phosphatase and tensin homolog
• PTPN11: protein tyrosine phosphatase, non-receptor type 11
• PTPN22: protein tyrosine phosphatase, non-receptor type 22
• PTS: 6-pyruvoyltetrahydropterin synthase
• PURA: purine rich element binding protein A
• PYGL: glycogen phosphorylase L
• PYGM: glycogen phosphorylase, muscle associated

Q

QDPR: quinoid dihydropteridine reductase

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R

• RAB3GAP1: RAB3 GTPase activating protein catalytic subunit 1
• RAB3GAP2: RAB3 GTPase activating non-catalytic protein subunit 2
• RAB18: RAB18, member RAS oncogene family
• RAB23: RAB23, member RAS oncogene family
• RAB27A: RAB27A, member RAS oncogene family
• RAD21: RAD21 cohesin complex component
• RAD51: RAD51 recombinase
• RAF1: Raf-1 proto-oncogene, serine/threonine kinase
• RAG1: recombination activating 1
• RAG2: recombination activating 2
• RAI1: retinoic acid induced 1
• RANBP2: RAN binding protein 2
• RAPSN: receptor associated protein of the synapse
• RARA: retinoic acid receptor alpha
• RARS2: arginyl-tRNA synthetase 2, mitochondrial
• RASA1: RAS p21 protein activator 1
• RB1: RB transcriptional corepressor 1
• RBM8A: RNA binding motif protein 8A
• RBPJ: recombination signal binding protein for immunoglobulin kappa J region
• RDH5: retinol dehydrogenase 5
• RECQL4: RecQ like helicase 4
• REEP1: receptor accessory protein 1
• RELN: reelin
• REN: renin
• RERE: arginine-glutamic acid dipeptide repeats
• RET: ret proto-oncogene
• RETREG1: reticulophagy regulator 1
• RFX5: regulatory factor X5
• RFXANK: regulatory factor X associated ankyrin containing protein
• RFXAP: regulatory factor X associated protein
• RGS9: regulator of G protein signaling 9
• RGS9BP: regulator of G protein signaling 9 binding protein
• RHO: rhodopsin
• RIT1: Ras like without CAAX 1
• RMRP: RNA component of mitochondrial RNA processing endoribonuclease
• RNASEH2A: ribonuclease H2 subunit A
• RNASEH2B: ribonuclease H2 subunit B
• RNASEH2C: ribonuclease H2 subunit C
• RNASET2: ribonuclease T2
• RNF213: ring finger protein 213
• RNF216: ring finger protein 216
• ROBO3: roundabout guidance receptor 3
• ROR2: receptor tyrosine kinase like orphan receptor 2
• RP2: RP2, ARL3 GTPase activating protein
• RPE65: RPE65, retinoid isomerohydrolase
• RPGR: retinitis pigmentosa GTPase regulator
• RPL5: ribosomal protein L5
• RPL11: ribosomal protein L11
• RPL35A: ribosomal protein L35a
• RPS6KA3: ribosomal protein S6 kinase A3
• RPS10: ribosomal protein S10
• RPS14: ribosomal protein S14
• RPS17: ribosomal protein S17
• RPS19: ribosomal protein S19
• RPS24: ribosomal protein S24
• RPS26: ribosomal protein S26
• RPSA: ribosomal protein SA
• RRM2B: ribonucleotide reductase regulatory TP53 inducible subunit M2B
• RS1: retinoschisin 1
• RSPO4: R-spondin 4
• RUNX1: runt related transcription factor 1
• RUNX1T1: RUNX1 translocation partner 1
• RUNX2: runt related transcription factor 2
• RYR1: ryanodine receptor 1
• RYR2: ryanodine receptor 2

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S

• SAA1: serum amyloid A1
• SACS: sacsin molecular chaperone
• SALL1: spalt like transcription factor 1
• SALL4: spalt like transcription factor 4
• SAMD9L: sterile alpha motif domain containing 9 like
• SAMHD1: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
• SAR1B: secretion associated Ras related GTPase 1B
• SATB2: SATB homeobox 2
• SBDS: SBDS, ribosome maturation factor
• SCARB2: scavenger receptor class B member 2
• SCN1A: sodium voltage-gated channel alpha subunit 1
• SCN4A: sodium voltage-gated channel alpha subunit 4
• SCN5A: sodium voltage-gated channel alpha subunit 5
• SCN8A: sodium voltage-gated channel alpha subunit 8
• SCN9A: sodium voltage-gated channel alpha subunit 9
• SCN10A: sodium voltage-gated channel alpha subunit 10
• SCNN1A: sodium channel epithelial 1 alpha subunit
• SCNN1B: sodium channel epithelial 1 beta subunit
• SCNN1G: sodium channel epithelial 1 gamma subunit
• SDHA: succinate dehydrogenase complex flavoprotein subunit A
• SDHAF2: succinate dehydrogenase complex assembly factor 2
• SDHB: succinate dehydrogenase complex iron sulfur subunit B
• SDHC: succinate dehydrogenase complex subunit C
• SDHD: succinate dehydrogenase complex subunit D
• SEC23B: Sec23 homolog B, coat complex II component
• SELENON: selenoprotein N
• SEPSECS: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
• SEPTIN9: septin 9
• SERAC1: serine active site containing 1
• SERPINA1: serpin family A member 1
• SERPINA6: serpin family A member 6
• SERPINA7: serpin family A member 7
• SERPINC1: serpin family C member 1
• SERPINE1: serpin family E member 1
• SERPING1: serpin family G member 1
• SERPINI1: serpin family I member 1
• SETBP1: SET binding protein 1
• SETX: senataxin
• SF3B4: splicing factor 3b subunit 4
• SFRP4: secreted frizzled related protein 4
• SFTPB: surfactant protein B
• SFTPC: surfactant protein C
• SGCA: sarcoglycan alpha
• SGCB: sarcoglycan beta
• SGCD: sarcoglycan delta
• SGCE: sarcoglycan epsilon
• SGCG: sarcoglycan gamma
• SGO1: shugoshin 1
• SGSH: N-sulfoglucosamine sulfohydrolase
• SH2D1A: SH2 domain containing 1A
• SH3BP2: SH3 domain binding protein 2
• SHANK3: SH3 and multiple ankyrin repeat domains 3
• SHH: sonic hedgehog
• SHOX: short stature homeobox
• SI: sucrase-isomaltase
• SIL1: SIL1 nucleotide exchange factor
• SIX1: SIX homeobox 1
• SIX3: SIX homeobox 3
• SIX5: SIX homeobox 5
• SKI: SKI proto-oncogene
• SKIV2L: Ski2 like RNA helicase
• SLC1A3: solute carrier family 1 member 3
• SLC2A1: solute carrier family 2 member 1
• SLC2A9: solute carrier family 2 member 9
• SLC2A10: solute carrier family 2 member 10
• SLC3A1: solute carrier family 3 member 1
• SLC4A1: solute carrier family 4 member 1 (Diego blood group)
• SLC5A1: solute carrier family 5 member 1
• SLC5A5: solute carrier family 5 member 5
• SLC6A3: solute carrier family 6 member 3
• SLC6A8: solute carrier family 6 member 8
• SLC6A19: solute carrier family 6 member 19
• SLC7A7: solute carrier family 7 member 7
• SLC7A9: solute carrier family 7 member 9
• SLC9A6: solute carrier family 9 member A6
• SLC11A2: solute carrier family 11 member 2
• SLC12A1: solute carrier family 12 member 1
• SLC12A3: solute carrier family 12 member 3
• SLC12A6: solute carrier family 12 member 6
• SLC16A2: solute carrier family 16 member 2
• SLC17A5: solute carrier family 17 member 5
• SLC19A2: solute carrier family 19 member 2
• SLC19A3: solute carrier family 19 member 3
• SLC20A2: solute carrier family 20 member 2
• SLC22A5: solute carrier family 22 member 5
• SLC22A12: solute carrier family 22 member 12
• SLC25A1: solute carrier family 25 member 1
• SLC25A4: solute carrier family 25 member 4
• SLC25A13: solute carrier family 25 member 13
• SLC25A15: solute carrier family 25 member 15
• SLC25A19: solute carrier family 25 member 19
• SLC25A20: solute carrier family 25 member 20
• SLC25A24: solute carrier family 25 member 24
• SLC26A2: solute carrier family 26 member 2
• SLC26A4: solute carrier family 26 member 4
• SLC29A3: solute carrier family 29 member 3
• SLC30A10: solute carrier family 30 member 10
• SLC34A1: solute carrier family 34 member 1
• SLC34A2: solute carrier family 34 member 2
• SLC35A2: solute carrier family 35 member A2
• SLC37A4: solute carrier family 37 member 4
• SLC39A14: solute carrier family 39 member 14
• SLC40A1: solute carrier family 40 member 1
• SLC45A2: solute carrier family 45 member 2
• SLC46A1: solute carrier family 46 member 1
• SLC52A2: solute carrier family 52 member 2
• SLC52A3: solute carrier family 52 member 3
• SLCO1B1: solute carrier organic anion transporter family member 1B1
• SLCO1B3: solute carrier organic anion transporter family member 1B3
• SLITRK1: SLIT and NTRK like family member 1
• SLITRK6: SLIT and NTRK like family member 6
• SLURP1: secreted LY6/PLAUR domain containing 1
• SMAD3: SMAD family member 3
• SMAD4: SMAD family member 4
• SMARCA2: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
• SMARCA4: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
• SMARCAD1: SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
• SMARCAL1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
• SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
• SMARCE1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
• SMC1A: structural maintenance of chromosomes 1A
• SMC3: structural maintenance of chromosomes 3
• SMCHD1: structural maintenance of chromosomes flexible hinge domain containing 1
• SMN1: survival of motor neuron 1, telomeric
• SMN2: survival of motor neuron 2, centromeric
• SMOC1: SPARC related modular calcium binding 1
• SMPD1: sphingomyelin phosphodiesterase 1
• SMS: spermine synthase
• SNAI2: snail family transcriptional repressor 2
• SNCA: synuclein alpha
• SNCB: synuclein beta
• SOD1: superoxide dismutase 1
• SOS1: SOS Ras/Rac guanine nucleotide exchange factor 1
• SOST: sclerostin
• SOX2: SRY-box 2
• SOX9: SRY-box 9
• SOX10: SRY-box 10
• SP110: SP110 nuclear body protein
• SPART: spartin
• SPAST: spastin
• SPECC1L: sperm antigen with calponin homology and coiled-coil domains 1 like
• SPG7: SPG7, paraplegin matrix AAA peptidase subunit
• SPG11: SPG11, spatacsin vesicle trafficking associated
• SPINK5: serine peptidase inhibitor, Kazal type 5
• SPR: sepiapterin reductase
• SPRED1: sprouty related EVH1 domain containing 1
• SPTLC1: serine palmitoyltransferase long chain base subunit 1
• SQSTM1: sequestosome 1
• SRCAP: Snf2 related CREBBP activator protein
• SRD5A2: steroid 5 alpha-reductase 2
• SRY: sex determining region Y
• ST3GAL5: ST3 beta-galactoside alpha-2,3-sialyltransferase 5
• STAMBP: STAM binding protein
• STAT1: signal transducer and activator of transcription 1
• STAT3: signal transducer and activator of transcription 3
• STAT4: signal transducer and activator of transcription 4
• STIM1: stromal interaction molecule 1
• STING1: stimulator of interferon response cGAMP interactor 1
• STK11: serine/threonine kinase 11
• STRC: stereocilin
• STXBP1: syntaxin binding protein 1
• SUCLA2: succinate-CoA ligase ADP-forming beta subunit
• SUCLG1: succinate-CoA ligase alpha subunit
• SUMF1: sulfatase modifying factor 1
• SUOX: sulfite oxidase
• SURF1: SURF1, cytochrome c oxidase assembly factor
• SYNE1: spectrin repeat containing nuclear envelope protein 1
• SYNGAP1: synaptic Ras GTPase activating protein 1

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T

• TAF1: TATA-box binding protein associated factor 1
• TAP1: transporter 1, ATP binding cassette subfamily B member
• TAP2: transporter 2, ATP binding cassette subfamily B member
• TARDBP: TAR DNA binding protein
• TAT: tyrosine aminotransferase
• TAZ: tafazzin
• TBC1D20: TBC1 domain family member 20
• TBC1D24: TBC1 domain family member 24
• TBP: TATA-box binding protein
• TBX1: T-box 1
• TBX5: T-box 5
• TBXAS1: thromboxane A synthase 1
• TBXT: T-box transcription factor T
• TCF4: transcription factor 4
• TCHH: trichohyalin
• TCIRG1: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
• TCN2: transcobalamin 2
• TCOF1: treacle ribosome biogenesis factor 1
• TECPR2: tectonin beta-propeller repeat containing 2
• TECTA: tectorin alpha
• TEK: TEK receptor tyrosine kinase
• TERC: telomerase RNA component
• TERT: telomerase reverse transcriptase
• TET2: tet methylcytosine dioxygenase 2
• TFAP2A: transcription factor AP-2 alpha
• TFAP2B: transcription factor AP-2 beta
• TFR2: transferrin receptor 2
• TG: thyroglobulin
• TGFB1: transforming growth factor beta 1
• TGFB2: transforming growth factor beta 2
• TGFB3: transforming growth factor beta 3
• TGFBI: transforming growth factor beta induced
• TGFBR1: transforming growth factor beta receptor 1
• TGFBR2: transforming growth factor beta receptor 2
• TGIF1: TGFB induced factor homeobox 1
• TGM1: transglutaminase 1
• TGM3: transglutaminase 3
• TGM5: transglutaminase 5
• TH: tyrosine hydroxylase
• THAP1: THAP domain containing 1
• THPO: thrombopoietin
• TIMM8A: translocase of inner mitochondrial membrane 8A
• TINF2: TERF1 interacting nuclear factor 2
• TK2: thymidine kinase 2, mitochondrial
• TMCO1: transmembrane and coiled-coil domains 1
• TMEM70: transmembrane protein 70
• TMEM127: transmembrane protein 127
• TMPRSS6: transmembrane serine protease 6
• TNFRSF1A: TNF receptor superfamily member 1A
• TNFRSF11A: TNF receptor superfamily member 11a
• TNFRSF11B: TNF receptor superfamily member 11b
• TNFRSF13B: TNF receptor superfamily member 13B
• TNNI2: troponin I2, fast skeletal type
• TNNI3: troponin I3, cardiac type
• TNNT2: troponin T2, cardiac type
• TNNT3: troponin T3, fast skeletal type
• TNXB: tenascin XB
• TOR1A: torsin family 1 member A
• TP53: tumor protein p53
• TP63: tumor protein p63
• TPI1: triosephosphate isomerase 1
• TPM2: tropomyosin 2
• TPM3: tropomyosin 3
• TPMT: thiopurine S-methyltransferase
• TPO: thyroid peroxidase
• TPP1: tripeptidyl peptidase 1
• TRAPPC2: trafficking protein particle complex 2
• TREM2: triggering receptor expressed on myeloid cells 2
• TREX1: three prime repair exonuclease 1
• TRIP11: thyroid hormone receptor interactor 11
• TRIP13: thyroid hormone receptor interactor 13
• TRNT1: tRNA nucleotidyl transferase 1
• TRPM1: transient receptor potential cation channel subfamily M member 1
• TRPM4: transient receptor potential cation channel subfamily M member 4
• TRPM6: transient receptor potential cation channel subfamily M member 6
• TRPS1: transcriptional repressor GATA binding 1
• TRPV4: transient receptor potential cation channel subfamily V member 4
• TSC1: TSC complex subunit 1
• TSC2: TSC complex subunit 2
• TSEN2: tRNA splicing endonuclease subunit 2
• TSEN34: tRNA splicing endonuclease subunit 34
• TSEN54: tRNA splicing endonuclease subunit 54
• TSHB: thyroid stimulating hormone beta
• TSHR: thyroid stimulating hormone receptor
• TSPYL1: TSPY like 1
• TTC37: tetratricopeptide repeat domain 37
• TTN: titin
• TTPA: alpha tocopherol transfer protein
• TTR: transthyretin
• TUBA1A: tubulin alpha 1a
• TUBB4A: tubulin beta 4A class IVa
• TWIST1: twist family bHLH transcription factor 1
• TWNK: twinkle mtDNA helicase
• TXNL4A: thioredoxin like 4A
• TYMP: thymidine phosphorylase
• TYR: tyrosinase
• TYROBP: TYRO protein tyrosine kinase binding protein
• TYRP1: tyrosinase related protein 1

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U

• UBA1: ubiquitin like modifier activating enzyme 1
• UBE3A: ubiquitin protein ligase E3A
• UBE3B: ubiquitin protein ligase E3B
• UCHL1: ubiquitin C-terminal hydrolase L1
• UGT1A1: UDP glucuronosyltransferase family 1 member A1
• UMOD: uromodulin
• UNC13D: unc-13 homolog D
• UNC80: unc-80 homolog, NALCN channel complex subunit
• UPB1: beta-ureidopropionase 1
• UROD: uroporphyrinogen decarboxylase
• UROS: uroporphyrinogen III synthase
• USB1: U6 snRNA biogenesis phosphodiesterase 1
• USH2A: usherin
• UTP4: UTP4, small subunit processome component
• UVSSA: UV stimulated scaffold protein A

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V

• VCAN: versican
• VCP: valosin containing protein
• VDR: vitamin D receptor
• VHL: von Hippel-Lindau tumor suppressor
• VKORC1: vitamin K epoxide reductase complex subunit 1
• VLDLR: very low density lipoprotein receptor
• VPS13A: vacuolar protein sorting 13 homolog A
• VPS13B: vacuolar protein sorting 13 homolog B
• VRK1: VRK serine/threonine kinase 1
• VWF: von Willebrand factor

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W

• WAS: Wiskott-Aldrich syndrome
• WASHC5: WASH complex subunit 5
• WDR19: WD repeat domain 19
• WDR35: WD repeat domain 35
• WDR45: WD repeat domain 45
• WFS1: wolframin ER transmembrane glycoprotein
• WNK1: WNK lysine deficient protein kinase 1
• WNK4: WNK lysine deficient protein kinase 4
• WNT3: Wnt family member 3
• WNT4: Wnt family member 4
• WNT5A: Wnt family member 5A
• WNT10A: Wnt family member 10A
• WRN: Werner syndrome RecQ like helicase
• WT1: Wilms tumor 1

X

• XDH: xanthine dehydrogenase
• XIAP: X-linked inhibitor of apoptosis
• XK: X-linked Kx blood group
• XPA: XPA, DNA damage recognition and repair factor
• XPC: XPC complex subunit, DNA damage recognition and repair factor

Y

• YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
• YY1AP1: YY1 associated protein 1

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Z

• ZAP70: zeta chain of T cell receptor associated protein kinase 70
• ZEB2: zinc finger E-box binding homeobox 2
• ZFP57: ZFP57 zinc finger protein
• ZFYVE26: zinc finger FYVE-type containing 26
• ZIC2: Zic family member 2
• ZMPSTE24: zinc metallopeptidase STE24
• ZMYM2: zinc finger MYM-type containing 2
• ZNF341: zinc finger protein 341