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Cellular metabolic process

Cellular metabolic process

  • AASS: aminoadipate-semialdehyde synthase
  • ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
  • ABCA4: ATP-binding cassette, sub-family A (ABC1), member 4
  • ABCB11: ATP-binding cassette, sub-family B (MDR/TAP), member 11
  • ABCB4: ATP-binding cassette, sub-family B (MDR/TAP), member 4
  • ABCC8: ATP-binding cassette, sub-family C (CFTR/MRP), member 8
  • ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
  • ABCG5: ATP-binding cassette, sub-family G (WHITE), member 5
  • ABCG8: ATP-binding cassette, sub-family G (WHITE), member 8
  • ABHD5: abhydrolase domain containing 5
  • ACAD8: acyl-CoA dehydrogenase family, member 8
  • ACADM: acyl-CoA dehydrogenase, C-4 to C-12 straight chain
  • ACADS: acyl-CoA dehydrogenase, C-2 to C-3 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, palmitoyl
  • ACP5: acid phosphatase 5, tartrate resistant
  • ACSF3: acyl-CoA synthetase family member 3
  • ACTB: actin, beta
  • ACVR1: activin A receptor, type I
  • ACVRL1: activin A receptor type II-like 1
  • ADA: adenosine deaminase
  • ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
  • AFF2: AF4/FMR2 family, member 2
  • 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 (serpin peptidase inhibitor, clade A, member 8)
  • AGTR1: angiotensin II receptor, type 1
  • AGXT: alanine-glyoxylate aminotransferase
  • AHCY: adenosylhomocysteinase
  • AIP: aryl hydrocarbon receptor interacting protein
  • AIRE: autoimmune regulator
  • AKT1: v-akt murine thymoma viral oncogene homolog 1
  • ALAD: aminolevulinate dehydratase
  • ALAS1: aminolevulinate, delta-, synthase 1
  • ALAS2: aminolevulinate, delta-, 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 B, fructose-bisphosphate
  • ALG6: ALG6, alpha-1,3-glucosyltransferase
  • ALK: anaplastic lymphoma receptor tyrosine kinase
  • ALOX12B: arachidonate 12-lipoxygenase, 12R type
  • ALOXE3: arachidonate lipoxygenase 3
  • ALS2: amyotrophic lateral sclerosis 2 (juvenile)
  • ALX1: ALX homeobox 1
  • AMACR: alpha-methylacyl-CoA racemase
  • AMN: amnion associated transmembrane protein
  • AMPD1: adenosine monophosphate deaminase 1
  • AMT: aminomethyltransferase
  • ANG: angiogenin, ribonuclease, RNase A family, 5
  • APC: adenomatous polyposis coli
  • APOA1: apolipoprotein A-I
  • APOB: apolipoprotein B
  • APOE: apolipoprotein E
  • APP: amyloid beta (A4) precursor protein
  • APRT: adenine phosphoribosyltransferase
  • APTX: aprataxin
  • AR: androgen receptor
  • ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
  • ARG1: arginase 1
  • ARID1A: AT rich interactive domain 1A (SWI-like)
  • ARID1B: AT rich interactive domain 1B (SWI1-like)
  • ARSA: arylsulfatase A
  • ARSB: arylsulfatase B
  • ARSE: arylsulfatase E (chondrodysplasia punctata 1)
  • ASAH1: N-acylsphingosine amidohydrolase (acid ceramidase) 1
  • ASL: argininosuccinate lyase
  • ASPA: aspartoacylase
  • ASS1: argininosuccinate synthase 1
  • ATG16L1: autophagy related 16-like 1 (S. cerevisiae)
  • ATL1: atlastin GTPase 1
  • ATM: ATM serine/threonine kinase
  • ATN1: atrophin 1
  • ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide
  • ATP8B1: ATPase, aminophospholipid transporter, class I, type 8B, member 1
  • ATRX: alpha thalassemia/mental retardation syndrome X-linked
  • ATXN1: ataxin 1
  • ATXN2: ataxin 2
  • ATXN3: ataxin 3
  • AUH: AU RNA binding protein/enoyl-CoA hydratase
  • AVP: arginine vasopressin
  • AVPR2: arginine vasopressin receptor 2
  • BARD1: BRCA1 associated RING domain 1
  • BCHE: butyrylcholinesterase
  • BCKDHA: branched chain keto acid dehydrogenase E1, alpha polypeptide
  • BCKDHB: branched chain keto acid dehydrogenase E1, beta polypeptide
  • BCOR: BCL6 corepressor
  • BLM: Bloom syndrome, RecQ helicase-like
  • BMPR1A: bone morphogenetic protein receptor, type IA
  • BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
  • BRAF: B-Raf proto-oncogene, serine/threonine kinase
  • BRCA1: breast cancer 1, early onset
  • BRCA2: breast cancer 2, early onset
  • BRIP1: BRCA1 interacting protein C-terminal helicase 1
  • BTD: biotinidase
  • BTK: Bruton agammaglobulinemia tyrosine kinase
  • C10orf2: chromosome 10 open reading frame 2
  • C3: complement component 3
  • C9orf72: chromosome 9 open reading frame 72
  • CACNA1A: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
  • CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
  • CALR: calreticulin
  • CAPN3: calpain 3, (p94)
  • CARD14: caspase recruitment domain family, member 14
  • CASK: calcium/calmodulin-dependent serine protein kinase (MAGUK family)
  • CAT: catalase
  • CAV3: caveolin 3
  • CBFB: core-binding factor, beta subunit
  • CBS: cystathionine-beta-synthase
  • CCM2: cerebral cavernous malformation 2
  • CD40LG: CD40 ligand
  • CDAN1: codanin 1
  • CDC6: cell division cycle 6
  • CDC73: cell division cycle 73
  • CDH1: cadherin 1, type 1, E-cadherin (epithelial)
  • CDKL5: cyclin-dependent kinase-like 5
  • CDKN1B: cyclin-dependent kinase inhibitor 1B (p27, Kip1)
  • CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
  • CDT1: chromatin licensing and DNA replication factor 1
  • CEBPA: CCAAT/enhancer binding protein (C/EBP), alpha
  • CEP290: centrosomal protein 290kDa
  • CHAT: choline O-acetyltransferase
  • CHD7: chromodomain helicase DNA binding protein 7
  • CHEK2: checkpoint kinase 2
  • CHM: choroideremia (Rab escort protein 1)
  • CHRNA4: cholinergic receptor, nicotinic, alpha 4 (neuronal)
  • CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
  • CHST3: carbohydrate (chondroitin 6) sulfotransferase 3
  • CIRH1A: cirrhosis, autosomal recessive 1A (cirhin)
  • CISD2: CDGSH iron sulfur domain 2
  • CLCF1: cardiotrophin-like cytokine factor 1
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • CLN5: ceroid-lipofuscinosis, neuronal 5
  • CLN6: ceroid-lipofuscinosis, neuronal 6, late infantile, variant
  • CLN8: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
  • CNBP: CCHC-type zinc finger, nucleic acid binding protein
  • COL1A1: collagen, type I, alpha 1
  • COL3A1: collagen, type III, alpha 1
  • COLQ: collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
  • COMT: catechol-O-methyltransferase
  • CPOX: coproporphyrinogen oxidase
  • CPS1: carbamoyl-phosphate synthase 1, mitochondrial
  • CPT1A: carnitine palmitoyltransferase 1A (liver)
  • CPT2: carnitine palmitoyltransferase 2
  • CREBBP: CREB binding protein
  • CRLF1: cytokine receptor-like factor 1
  • CRTAP: cartilage associated protein
  • CSF1R: colony stimulating factor 1 receptor
  • CST3: cystatin C
  • CSTB: cystatin B (stefin B)
  • CTC1: CTS telomere maintenance complex component 1
  • CTDP1: CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
  • CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
  • CTNS: cystinosin, lysosomal cystine transporter
  • CTSA: cathepsin A
  • CUBN: cubilin (intrinsic factor-cobalamin receptor)
  • CUL7: cullin 7
  • CYBA: cytochrome b-245, alpha polypeptide
  • CYBB: cytochrome b-245, beta polypeptide
  • CYLD: cylindromatosis (turban tumor syndrome)
  • CYP11B1: cytochrome P450, family 11, subfamily B, polypeptide 1
  • CYP11B2: cytochrome P450, family 11, subfamily B, polypeptide 2
  • CYP19A1: cytochrome P450, family 19, subfamily A, polypeptide 1
  • CYP1B1: cytochrome P450, family 1, subfamily B, polypeptide 1
  • CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2
  • CYP27A1: cytochrome P450, family 27, subfamily A, polypeptide 1
  • CYP27B1: cytochrome P450, family 27, subfamily B, polypeptide 1
  • CYP4V2: cytochrome P450, family 4, subfamily V, polypeptide 2
  • D2HGDH: D-2-hydroxyglutarate dehydrogenase
  • DARS2: aspartyl-tRNA synthetase 2, mitochondrial
  • DBH: dopamine beta-hydroxylase (dopamine beta-monooxygenase)
  • DBT: dihydrolipoamide branched chain transacylase E2
  • DCN: decorin
  • DCTN1: dynactin 1
  • DDC: dopa decarboxylase (aromatic L-amino acid decarboxylase)
  • DDX11: DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
  • DGUOK: deoxyguanosine kinase
  • DHODH: dihydroorotate dehydrogenase (quinone)
  • DICER1: dicer 1, ribonuclease type III
  • DIRAS3: DIRAS family, GTP-binding RAS-like 3
  • DKC1: dyskeratosis congenita 1, dyskerin
  • DLAT: dihydrolipoamide S-acetyltransferase
  • DLD: dihydrolipoamide dehydrogenase
  • DMD: dystrophin
  • DMPK: dystrophia myotonica-protein kinase
  • DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
  • DNM2: dynamin 2
  • DNMT1: DNA (cytosine-5-)-methyltransferase 1
  • DNMT3A: DNA (cytosine-5-)-methyltransferase 3 alpha
  • DOK7: docking protein 7
  • DPYD: dihydropyrimidine dehydrogenase
  • DPYS: dihydropyrimidinase
  • DRD3: dopamine receptor D3
  • DRD5: dopamine receptor D5
  • DUX4: double homeobox 4
  • EDA: ectodysplasin A
  • EDN3: endothelin 3
  • EDNRB: endothelin receptor type B
  • EFTUD2: elongation factor Tu GTP binding domain containing 2
  • EGLN1: egl-9 family hypoxia-inducible factor 1
  • EGR2: early growth response 2
  • EHMT1: euchromatic histone-lysine N-methyltransferase 1
  • EIF2B1: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
  • EIF2B2: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
  • EIF2B3: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
  • EIF2B4: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
  • EIF2B5: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
  • ELANE: elastase, neutrophil expressed
  • ELOVL4: ELOVL fatty acid elongase 4
  • ENG: endoglin
  • EOGT: EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
  • EP300: E1A binding protein p300
  • EPAS1: endothelial PAS domain protein 1
  • EPCAM: epithelial cell adhesion molecule
  • EPM2A: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
  • ERBB2: v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2
  • ERCC2: excision repair cross-complementation group 2
  • ERCC3: excision repair cross-complementation group 3
  • ERCC6: excision repair cross-complementation group 6
  • ERCC8: excision repair cross-complementation group 8
  • ESCO2: establishment of sister chromatid cohesion N-acetyltransferase 2
  • ETFA: electron-transfer-flavoprotein, alpha polypeptide
  • ETFB: electron-transfer-flavoprotein, beta polypeptide
  • ETFDH: electron-transferring-flavoprotein dehydrogenase
  • ETHE1: ethylmalonic encephalopathy 1
  • ETV6: ets variant 6
  • 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
  • F2: coagulation factor II (thrombin)
  • F9: coagulation factor IX
  • FAH: fumarylacetoacetate hydrolase (fumarylacetoacetase)
  • FANCA: Fanconi anemia, complementation group A
  • FANCC: Fanconi anemia, complementation group C
  • FANCG: Fanconi anemia, complementation group G
  • FBLN5: fibulin 5
  • FBN1: fibrillin 1
  • FECH: ferrochelatase
  • FGA: fibrinogen alpha chain
  • FGB: fibrinogen beta chain
  • FGD1: FYVE, RhoGEF and PH domain containing 1
  • FGD4: FYVE, RhoGEF and PH domain containing 4
  • 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
  • FIG4: FIG4 phosphoinositide 5-phosphatase
  • FKBP10: FK506 binding protein 10, 65 kDa
  • FKTN: fukutin
  • FLCN: folliculin
  • FLI1: Fli-1 proto-oncogene, ETS transcription factor
  • FLNA: filamin A, alpha
  • FLT3: fms-related tyrosine kinase 3
  • FLT4: fms-related tyrosine kinase 4
  • FMO3: flavin containing monooxygenase 3
  • FMR1: fragile X mental retardation 1
  • FOXC1: forkhead box C1
  • FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
  • FOXF1: forkhead box F1
  • FOXG1: forkhead box G1
  • FOXL2: forkhead box L2
  • FOXN1: forkhead box N1
  • FOXP3: forkhead box P3
  • FTCD: formimidoyltransferase cyclodeaminase
  • FUS: FUS RNA binding protein
  • FXN: frataxin
  • FZD4: frizzled class receptor 4
  • G6PC: glucose-6-phosphatase, catalytic subunit
  • G6PD: glucose-6-phosphate dehydrogenase
  • GAA: glucosidase, alpha; acid
  • GALC: galactosylceramidase
  • GALNS: galactosamine (N-acetyl)-6-sulfatase
  • GALNT3: polypeptide N-acetylgalactosaminyltransferase 3
  • GAMT: guanidinoacetate N-methyltransferase
  • GAN: gigaxonin
  • GARS: glycyl-tRNA synthetase
  • GATA1: GATA binding protein 1 (globin transcription factor 1)
  • GATM: glycine amidinotransferase (L-arginine:glycine amidinotransferase)
  • GBA: glucosidase, beta, acid
  • GBE1: glucan (1,4-alpha-), branching enzyme 1
  • GCDH: glutaryl-CoA dehydrogenase
  • GCH1: GTP cyclohydrolase 1
  • GDF3: growth differentiation factor 3
  • GDF6: growth differentiation factor 6
  • GH1: growth hormone 1
  • GHRHR: growth hormone releasing hormone receptor
  • GLA: galactosidase, alpha
  • GLB1: galactosidase, beta 1
  • GLDC: glycine dehydrogenase (decarboxylating)
  • GLI3: GLI family zinc finger 3
  • GM2A: GM2 ganglioside activator
  • GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
  • GNAS: GNAS complex locus
  • GNE: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  • GNMT: glycine N-methyltransferase
  • GNPAT: glyceronephosphate O-acyltransferase
  • GNPTAB: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
  • GNPTG: N-acetylglucosamine-1-phosphate transferase, gamma subunit
  • GNS: glucosamine (N-acetyl)-6-sulfatase
  • GPC3: glypican 3
  • GPHN: gephyrin
  • GPI: glucose-6-phosphate isomerase
  • GRHPR: glyoxylate reductase/hydroxypyruvate reductase
  • GRIP1: glutamate receptor interacting protein 1
  • GSS: glutathione synthetase
  • GTF2H5: general transcription factor IIH, polypeptide 5
  • GTF2I: general transcription factor IIi
  • GTF2IRD1: GTF2I repeat domain containing 1
  • GYS1: glycogen synthase 1 (muscle)
  • GYS2: glycogen synthase 2 (liver)
  • HADH: hydroxyacyl-CoA dehydrogenase
  • HADHA: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
  • HADHB: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
  • HAL: histidine ammonia-lyase
  • HAX1: HCLS1 associated protein X-1
  • HBA2: hemoglobin, alpha 2
  • HBB: hemoglobin, beta
  • HEXA: hexosaminidase A (alpha polypeptide)
  • HEXB: hexosaminidase B (beta polypeptide)
  • HGD: homogentisate 1,2-dioxygenase
  • HINT1: histidine triad nucleotide binding protein 1
  • HLCS: holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
  • HMBS: hydroxymethylbilane synthase
  • HMGCL: 3-hydroxymethyl-3-methylglutaryl-CoA lyase
  • HPD: 4-hydroxyphenylpyruvate dioxygenase
  • HPRT1: hypoxanthine phosphoribosyltransferase 1
  • HRAS: Harvey rat sarcoma viral oncogene homolog
  • HSD17B10: hydroxysteroid (17-beta) dehydrogenase 10
  • HSD17B3: hydroxysteroid (17-beta) dehydrogenase 3
  • HSD17B4: hydroxysteroid (17-beta) dehydrogenase 4
  • HSD3B2: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
  • HSPB1: heat shock 27kDa protein 1
  • HTT: huntingtin
  • IDH1: isocitrate dehydrogenase 1 (NADP+), soluble
  • IDH2: isocitrate dehydrogenase 2 (NADP+), mitochondrial
  • IDS: iduronate 2-sulfatase
  • IDUA: iduronidase, alpha-L-
  • IGF2: insulin-like growth factor 2
  • IGHMBP2: immunoglobulin mu binding protein 2
  • IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
  • IKBKG: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
  • IL1A: interleukin 1, alpha
  • IL23R: interleukin 23 receptor
  • IL7R: interleukin 7 receptor
  • INS: insulin
  • IRF5: interferon regulatory factor 5
  • IRF6: interferon regulatory factor 6
  • ISPD: isoprenoid synthase domain containing
  • ITGA6: integrin, alpha 6
  • ITGB2: integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
  • ITGB4: integrin, beta 4
  • ITM2B: integral membrane protein 2B
  • ITPKC: inositol-trisphosphate 3-kinase C
  • IVD: isovaleryl-CoA dehydrogenase
  • JAG1: jagged 1
  • JAK2: Janus kinase 2
  • KANSL1: KAT8 regulatory NSL complex subunit 1
  • KAT6B: K(lysine) acetyltransferase 6B
  • KCNE1: potassium voltage-gated channel, Isk-related family, member 1
  • KCNE2: potassium voltage-gated channel, Isk-related family, member 2
  • KCNJ11: potassium inwardly-rectifying channel, subfamily J, member 11
  • KDM6A: lysine (K)-specific demethylase 6A
  • KIF21A: kinesin family member 21A
  • KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
  • KMT2D: lysine (K)-specific methyltransferase 2D
  • KRAS: Kirsten rat sarcoma viral oncogene homolog
  • L2HGDH: L-2-hydroxyglutarate dehydrogenase
  • LARGE: like-glycosyltransferase
  • LCAT: lecithin-cholesterol acyltransferase
  • 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
  • LEPRE1: leucine proline-enriched proteoglycan (leprecan) 1
  • LHCGR: luteinizing hormone/choriogonadotropin receptor
  • LIMK1: LIM domain kinase 1
  • LITAF: lipopolysaccharide-induced TNF factor
  • LMNA: lamin A/C
  • LMX1B: LIM homeobox transcription factor 1, beta
  • LOR: loricrin
  • LPIN2: lipin 2
  • LPL: lipoprotein lipase
  • LRP2: low density lipoprotein receptor-related protein 2
  • LRP5: low density lipoprotein receptor-related protein 5
  • LRRK2: leucine-rich repeat kinase 2
  • MAGT1: magnesium transporter 1
  • MAN2B1: mannosidase, alpha, class 2B, member 1
  • MANBA: mannosidase, beta A, lysosomal
  • MAP2K1: mitogen-activated protein kinase kinase 1
  • MAP2K2: mitogen-activated protein kinase kinase 2
  • MAPT: microtubule-associated protein tau
  • MAT1A: methionine adenosyltransferase I, alpha
  • MC1R: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
  • MCCC1: methylcrotonoyl-CoA carboxylase 1 (alpha)
  • MCCC2: methylcrotonoyl-CoA carboxylase 2 (beta)
  • MCEE: methylmalonyl CoA epimerase
  • MCM6: minichromosome maintenance complex component 6
  • MECP2: methyl CpG binding protein 2
  • MED12: mediator complex subunit 12
  • MEGF8: multiple EGF-like-domains 8
  • MEN1: multiple endocrine neoplasia I
  • MID1: midline 1
  • MITF: microphthalmia-associated transcription factor
  • MKKS: McKusick-Kaufman syndrome
  • MLH1: mutL homolog 1
  • MLYCD: malonyl-CoA decarboxylase
  • MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
  • MMAB: methylmalonic aciduria (cobalamin deficiency) cblB type
  • MMADHC: methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
  • MMP2: matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
  • MOCS1: molybdenum cofactor synthesis 1
  • MOCS2: molybdenum cofactor synthesis 2
  • MPV17: MpV17 mitochondrial inner membrane protein
  • MSH2: mutS homolog 2
  • MSH6: mutS homolog 6
  • MSTN: myostatin
  • MSX2: msh homeobox 2
  • MT-ATP6: mitochondrially encoded ATP synthase 6
  • MT-CYB: mitochondrially encoded cytochrome b
  • MTHFR: methylenetetrahydrofolate reductase (NAD(P)H)
  • MTM1: myotubularin 1
  • MTMR2: myotubularin related protein 2
  • MT-ND1: mitochondrially encoded NADH dehydrogenase 1
  • MT-ND4: mitochondrially encoded NADH dehydrogenase 4
  • MT-ND4L: mitochondrially encoded NADH dehydrogenase 4L
  • MT-ND5: mitochondrially encoded NADH dehydrogenase 5
  • MT-ND6: mitochondrially encoded NADH dehydrogenase 6
  • MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
  • MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • MUC1: mucin 1, cell surface associated
  • MUT: methylmalonyl CoA mutase
  • MUTYH: mutY homolog
  • MVK: mevalonate kinase
  • MYBPC3: myosin binding protein C, cardiac
  • MYCN: v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
  • MYH3: myosin, heavy chain 3, skeletal muscle, embryonic
  • MYH6: myosin, heavy chain 6, cardiac muscle, alpha
  • MYH7: myosin, heavy chain 7, cardiac muscle, beta
  • MYH9: myosin, heavy chain 9, non-muscle
  • MYO5A: myosin VA (heavy chain 12, myoxin)
  • MYO6: myosin VI
  • MYOC: myocilin, trabecular meshwork inducible glucocorticoid response
  • NAGA: N-acetylgalactosaminidase, alpha-
  • NAGS: N-acetylglutamate synthase
  • NBN: nibrin
  • NCF1: neutrophil cytosolic factor 1
  • NCF2: neutrophil cytosolic factor 2
  • NCSTN: nicastrin
  • NDP: Norrie disease (pseudoglioma)
  • NEU1: sialidase 1 (lysosomal sialidase)
  • NF1: neurofibromin 1
  • NF2: neurofibromin 2 (merlin)
  • NFKBIA: nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
  • NGF: nerve growth factor (beta polypeptide)
  • NHLRC1: NHL repeat containing E3 ubiquitin protein ligase 1
  • NIPBL: Nipped-B homolog (Drosophila)
  • NLRP12: NLR family, pyrin domain containing 12
  • NLRP3: NLR family, pyrin domain containing 3
  • NOD2: nucleotide-binding oligomerization domain containing 2
  • NOG: noggin
  • NOTCH2: notch 2
  • NOTCH3: notch 3
  • NPC1: Niemann-Pick disease, type C1
  • NPC2: Niemann-Pick disease, type C2
  • NPM1: nucleophosmin (nucleolar phosphoprotein B23, numatrin)
  • NR0B1: nuclear receptor subfamily 0, group B, member 1
  • NR3C2: nuclear receptor subfamily 3, group C, member 2
  • NR4A2: nuclear receptor subfamily 4, group A, member 2
  • NR5A1: nuclear receptor subfamily 5, group A, member 1
  • NRAS: neuroblastoma RAS viral (v-ras) oncogene homolog
  • NSD1: nuclear receptor binding SET domain protein 1
  • NTRK1: neurotrophic tyrosine kinase, receptor, type 1
  • OAT: ornithine aminotransferase
  • OCRL: oculocerebrorenal syndrome of Lowe
  • OPA1: optic atrophy 1 (autosomal dominant)
  • OPN1LW: opsin 1 (cone pigments), long-wave-sensitive
  • OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive
  • OPN1SW: opsin 1 (cone pigments), short-wave-sensitive
  • ORC1: origin recognition complex, subunit 1
  • ORC4: origin recognition complex, subunit 4
  • ORC6: origin recognition complex, subunit 6
  • OTC: ornithine carbamoyltransferase
  • OTX2: orthodenticle homeobox 2
  • OXCT1: 3-oxoacid CoA transferase 1
  • PABPN1: poly(A) binding protein, nuclear 1
  • PAFAH1B1: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
  • PAH: phenylalanine hydroxylase
  • PALB2: partner and localizer of BRCA2
  • PANK2: pantothenate kinase 2
  • PARK2: parkin RBR E3 ubiquitin protein ligase
  • PARK7: parkinson protein 7
  • 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/dimerization cofactor of hepatocyte nuclear factor 1 alpha
  • PCCA: propionyl CoA carboxylase, alpha polypeptide
  • PCCB: propionyl CoA carboxylase, beta polypeptide
  • PCSK9: proprotein convertase subtilisin/kexin type 9
  • PDCD10: programmed cell death 10
  • PDE6B: phosphodiesterase 6B, cGMP-specific, rod, beta
  • PDGFB: platelet-derived growth factor beta polypeptide
  • PDGFRA: platelet-derived growth factor receptor, alpha polypeptide
  • PDGFRB: platelet-derived growth factor receptor, beta polypeptide
  • PDHA1: pyruvate dehydrogenase (lipoamide) alpha 1
  • PDHB: pyruvate dehydrogenase (lipoamide) beta
  • 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 (muscle)
  • PGAP2: post-GPI attachment to proteins 2
  • PGK1: phosphoglycerate kinase 1
  • PHEX: phosphate regulating endopeptidase homolog, X-linked
  • PHGDH: phosphoglycerate dehydrogenase
  • PHKA1: phosphorylase kinase, alpha 1 (muscle)
  • PHKA2: phosphorylase kinase, alpha 2 (liver)
  • PHKB: phosphorylase kinase, beta
  • PHKG2: phosphorylase kinase, gamma 2 (testis)
  • 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 (alpha)
  • PINK1: PTEN induced putative kinase 1
  • PITX2: paired-like homeodomain 2
  • PKD1: polycystic kidney disease 1 (autosomal dominant)
  • PKD2: polycystic kidney disease 2 (autosomal dominant)
  • PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
  • PKLR: pyruvate kinase, liver and RBC
  • PLA2G6: phospholipase A2, group VI (cytosolic, calcium-independent)
  • PLAGL1: pleiomorphic adenoma gene-like 1
  • PLCB4: phospholipase C, beta 4
  • PLG: plasminogen
  • PLOD1: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
  • PML: promyelocytic leukemia
  • PMM2: phosphomannomutase 2
  • PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
  • PNP: purine nucleoside phosphorylase
  • PNPLA2: patatin-like phospholipase domain containing 2
  • PNPO: pyridoxamine 5'-phosphate oxidase
  • POLG: polymerase (DNA directed), gamma
  • POLH: polymerase (DNA directed), eta
  • POLR1C: polymerase (RNA) I polypeptide C, 30kDa
  • POLR1D: polymerase (RNA) I polypeptide D, 16kDa
  • POLR3A: polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
  • POLR3B: polymerase (RNA) III (DNA directed) polypeptide B
  • POMC: proopiomelanocortin
  • POMT1: protein-O-mannosyltransferase 1
  • POR: P450 (cytochrome) oxidoreductase
  • PPOX: protoporphyrinogen oxidase
  • PPP1R12A: protein phosphatase 1, regulatory subunit 12A
  • PPT1: palmitoyl-protein thioesterase 1
  • PQBP1: polyglutamine binding protein 1
  • PRICKLE1: prickle homolog 1 (Drosophila)
  • PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
  • PRKAR1A: protein kinase, cAMP-dependent, regulatory, type I, alpha
  • PRNP: prion protein
  • PROC: protein C (inactivator of coagulation factors Va and VIIIa)
  • PRODH: proline dehydrogenase (oxidase) 1
  • PROK2: prokineticin 2
  • PROS1: protein S (alpha)
  • PRPS1: phosphoribosyl pyrophosphate synthetase 1
  • PRSS1: protease, serine, 1 (trypsin 1)
  • PSAP: prosaposin
  • PSEN1: presenilin 1
  • PSEN2: presenilin 2
  • PSENEN: presenilin enhancer gamma secretase subunit
  • PSMB8: proteasome (prosome, macropain) subunit, beta type, 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 (lymphoid)
  • PTS: 6-pyruvoyltetrahydropterin synthase
  • PYGL: phosphorylase, glycogen, liver
  • PYGM: phosphorylase, glycogen, muscle
  • QDPR: quinoid dihydropteridine reductase
  • RAB23: RAB23, member RAS oncogene family
  • RAB27A: RAB27A, member RAS oncogene family
  • RAB7A: RAB7A, member RAS oncogene family
  • RAD50: RAD50 homolog (S. cerevisiae)
  • RAD51: RAD51 recombinase
  • RAF1: Raf-1 proto-oncogene, serine/threonine kinase
  • RAI1: retinoic acid induced 1
  • RARA: retinoic acid receptor, alpha
  • RARS2: arginyl-tRNA synthetase 2, mitochondrial
  • RASA1: RAS p21 protein activator (GTPase activating protein) 1
  • RB1: retinoblastoma 1
  • RBM8A: RNA binding motif protein 8A
  • RBPJ: recombination signal binding protein for immunoglobulin kappa J region
  • RECQL4: RecQ protein-like 4
  • RELN: reelin
  • REN: renin
  • RET: ret proto-oncogene
  • RHO: rhodopsin
  • RNASEH2A: ribonuclease H2, subunit A
  • RNASEH2B: ribonuclease H2, subunit B
  • RNASEH2C: ribonuclease H2, subunit C
  • ROR2: receptor tyrosine kinase-like orphan receptor 2
  • RP2: retinitis pigmentosa 2 (X-linked recessive)
  • RPE65: retinal pigment epithelium-specific protein 65kDa
  • RPL11: ribosomal protein L11
  • RPL35A: ribosomal protein L35a
  • RPL5: ribosomal protein L5
  • RPS10: ribosomal protein S10
  • RPS17: ribosomal protein S17
  • RPS19: ribosomal protein S19
  • RPS24: ribosomal protein S24
  • RPS26: ribosomal protein S26
  • RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
  • RPS7: ribosomal protein S7
  • RUNX1: runt-related transcription factor 1
  • RUNX1T1: runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
  • RUNX2: runt-related transcription factor 2
  • RYR2: ryanodine receptor 2 (cardiac)
  • SACS: sacsin molecular chaperone
  • SALL1: spalt-like transcription factor 1
  • SAMHD1: SAM domain and HD domain 1
  • SAR1B: secretion associated, Ras related GTPase 1B
  • SBDS: Shwachman-Bodian-Diamond syndrome
  • SBF2: SET binding factor 2
  • SDHA: succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
  • SDHAF2: succinate dehydrogenase complex assembly factor 2
  • SDHB: succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
  • SDHC: succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
  • SDHD: succinate dehydrogenase complex, subunit D, integral membrane protein
  • SEPT9: septin 9
  • SETX: senataxin
  • SGSH: N-sulfoglucosamine sulfohydrolase
  • SHANK3: SH3 and multiple ankyrin repeat domains 3
  • SHH: sonic hedgehog
  • SHOX: short stature homeobox
  • SIL1: SIL1 nucleotide exchange factor
  • SIX1: SIX homeobox 1
  • SIX3: SIX homeobox 3
  • SKI: SKI proto-oncogene
  • SKIV2L: superkiller viralicidic activity 2-like (S. cerevisiae)
  • SLC19A2: solute carrier family 19 (thiamine transporter), member 2
  • SLC19A3: solute carrier family 19 (thiamine transporter), member 3
  • SLC25A1: solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
  • SLC25A13: solute carrier family 25 (aspartate/glutamate carrier), member 13
  • SLC25A15: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
  • SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
  • SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
  • SLC26A2: solute carrier family 26 (anion exchanger), member 2
  • SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
  • SLC3A1: solute carrier family 3 (amino acid transporter heavy chain), member 1
  • SLC46A1: solute carrier family 46 (folate transporter), member 1
  • SLC52A3: solute carrier family 52 (riboflavin transporter), member 3
  • SLC5A5: solute carrier family 5 (sodium/iodide cotransporter), member 5
  • SLC6A8: solute carrier family 6 (neurotransmitter transporter), member 8
  • SLC7A7: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
  • SLC7A9: solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
  • SLCO1B1: solute carrier organic anion transporter family, member 1B1
  • SLCO1B3: solute carrier organic anion transporter family, member 1B3
  • SMAD3: SMAD family member 3
  • SMAD4: SMAD family member 4
  • SMARCA4: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  • 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
  • SMN2: survival of motor neuron 2, centromeric
  • SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal
  • SMS: spermine synthase
  • SNAI2: snail family zinc finger 2
  • SNCA: synuclein, alpha (non A4 component of amyloid precursor)
  • SNCAIP: synuclein, alpha interacting protein
  • SOD1: superoxide dismutase 1, soluble
  • SOS1: son of sevenless homolog 1 (Drosophila)
  • SOST: sclerostin
  • SOX10: SRY (sex determining region Y)-box 10
  • SOX2: SRY (sex determining region Y)-box 2
  • SOX9: SRY (sex determining region Y)-box 9
  • SPAST: spastin
  • SPR: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
  • 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, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
  • SRY: sex determining region Y
  • ST3GAL5: ST3 beta-galactoside alpha-2,3-sialyltransferase 5
  • STAMBP: STAM binding protein
  • STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
  • STK11: serine/threonine kinase 11
  • SUCLA2: succinate-CoA ligase, ADP-forming, beta subunit
  • SUCLG1: succinate-CoA ligase, alpha subunit
  • SUMF1: sulfatase modifying factor 1
  • SURF1: surfeit 1
  • T: T, brachyury homolog (mouse)
  • TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
  • TARDBP: TAR DNA binding protein
  • TAT: tyrosine aminotransferase
  • TAZ: tafazzin
  • TBP: TATA box binding protein
  • TBX1: T-box 1
  • TBX5: T-box 5
  • TBXAS1: thromboxane A synthase 1 (platelet)
  • TCF4: transcription factor 4
  • TEK: TEK tyrosine kinase, endothelial
  • TERT: telomerase reverse transcriptase
  • TET2: tet methylcytosine dioxygenase 2
  • TFAP2A: transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
  • TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
  • TG: thyroglobulin
  • TGFB1: transforming growth factor, beta 1
  • TGFB2: transforming growth factor, beta 2
  • TGFBR1: transforming growth factor, beta receptor 1
  • TGFBR2: transforming growth factor, beta receptor II (70/80kDa)
  • TGIF1: TGFB-induced factor homeobox 1
  • TGM1: transglutaminase 1
  • TGM5: transglutaminase 5
  • TH: tyrosine hydroxylase
  • THAP1: THAP domain containing, apoptosis associated protein 1
  • THPO: thrombopoietin
  • TIMM8A: translocase of inner mitochondrial membrane 8 homolog A (yeast)
  • TINF2: TERF1 (TRF1)-interacting nuclear factor 2
  • TK2: thymidine kinase 2, mitochondrial
  • TNFRSF11A: tumor necrosis factor receptor superfamily, member 11a, NFKB activator
  • TNFRSF1A: tumor necrosis factor receptor superfamily, member 1A
  • TNNI3: troponin I type 3 (cardiac)
  • TNNT2: troponin T type 2 (cardiac)
  • TOR1A: torsin family 1, member A (torsin A)
  • TP53: tumor protein p53
  • TP63: tumor protein p63
  • TPI1: triosephosphate isomerase 1
  • TPM2: tropomyosin 2 (beta)
  • TPO: thyroid peroxidase
  • TPP1: tripeptidyl peptidase I
  • TRAPPC2: trafficking protein particle complex 2
  • TREM2: triggering receptor expressed on myeloid cells 2
  • TREX1: three prime repair exonuclease 1
  • TRIOBP: TRIO and F-actin binding protein
  • TRPS1: trichorhinophalangeal syndrome I
  • TSC1: tuberous sclerosis 1
  • TSC2: tuberous sclerosis 2
  • TSEN2: tRNA splicing endonuclease 2 homolog (S. cerevisiae)
  • TSEN54: TSEN54 tRNA splicing endonuclease subunit
  • TSHB: thyroid stimulating hormone, beta
  • TTN: titin
  • TTR: transthyretin
  • TUBA1A: tubulin, alpha 1a
  • TWIST1: twist family bHLH transcription factor 1
  • TYMP: thymidine phosphorylase
  • TYR: tyrosinase
  • UBA1: ubiquitin-like modifier activating enzyme 1
  • UBE3A: ubiquitin protein ligase E3A
  • UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
  • UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
  • UPB1: ureidopropionase, beta
  • UROD: uroporphyrinogen decarboxylase
  • UROS: uroporphyrinogen III synthase
  • USP9Y: ubiquitin specific peptidase 9, Y-linked
  • UVSSA: UV-stimulated scaffold protein A
  • VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
  • VCAN: versican
  • VCP: valosin containing protein
  • VDR: vitamin D (1,25- dihydroxyvitamin D3) receptor
  • VHL: von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • VLDLR: very low density lipoprotein receptor
  • VRK1: vaccinia related kinase 1
  • WFS1: Wolfram syndrome 1 (wolframin)
  • WNK1: WNK lysine deficient protein kinase 1
  • WNK4: WNK lysine deficient protein kinase 4
  • WNT4: wingless-type MMTV integration site family, member 4
  • WRN: Werner syndrome, RecQ helicase-like
  • WT1: Wilms tumor 1
  • XIAP: X-linked inhibitor of apoptosis
  • XPA: xeroderma pigmentosum, complementation group A
  • XPC: xeroderma pigmentosum, complementation group C
  • YARS: tyrosyl-tRNA synthetase
  • YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
  • ZAP70: zeta-chain (TCR) associated protein kinase 70kDa
  • ZEB2: zinc finger E-box binding homeobox 2
  • ZFP57: ZFP57 zinc finger protein
  • ZFYVE26: zinc finger, FYVE domain containing 26
  • ZIC2: Zic family member 2

Source: Gene Ontology ConsortiumThis link leads to a site outside Genetics Home Reference..

 
Published: October 20, 2014