Single-organism cellular process

Single-organism cellular process

• AAAS: achalasia, adrenocortical insufficiency, alacrimia
• ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
• ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12
• ABCA3: ATP-binding cassette, sub-family A (ABC1), member 3
• 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
• ABCB7: ATP-binding cassette, sub-family B (MDR/TAP), member 7
• ABCC2: ATP-binding cassette, sub-family C (CFTR/MRP), member 2
• ABCC6: ATP-binding cassette, sub-family C (CFTR/MRP), member 6
• ABCC8: ATP-binding cassette, sub-family C (CFTR/MRP), member 8
• ABCC9: ATP-binding cassette, sub-family C (CFTR/MRP), member 9
• 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
• ACADVL: acyl-CoA dehydrogenase, very long chain
• ACTA1: actin, alpha 1, skeletal muscle
• ACTA2: actin, alpha 2, smooth muscle, aorta
• ACTB: actin, beta
• ACTG1: actin, gamma 1
• 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
• ADAMTS2: ADAM metallopeptidase with thrombospondin type 1 motif, 2
• ADAMTSL2: ADAMTS-like 2
• AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2
• AGXT: alanine-glyoxylate aminotransferase
• AHCY: adenosylhomocysteinase
• AKT1: v-akt murine thymoma viral oncogene homolog 1
• ALAS2: aminolevulinate, delta-, synthase 2
• ALDH5A1: aldehyde dehydrogenase 5 family, member A1
• ALK: anaplastic lymphoma receptor tyrosine kinase
• ALMS1: Alstrom syndrome 1
• ALS2: amyotrophic lateral sclerosis 2 (juvenile)
• AMELX: amelogenin, X-linked
• AMH: anti-Mullerian hormone
• AMHR2: anti-Mullerian hormone receptor, type II
• ANG: angiogenin, ribonuclease, RNase A family, 5
• ANK1: ankyrin 1, erythrocytic
• ANK2: ankyrin 2, neuronal
• ANO5: anoctamin 5
• APC: adenomatous polyposis coli
• APOA1: apolipoprotein A-I
• APOB: apolipoprotein B (including Ag(x) antigen)
• APOE: apolipoprotein E
• APP: amyloid beta (A4) precursor protein
• APTX: aprataxin
• AQP2: aquaporin 2 (collecting duct)
• AR: androgen receptor
• ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
• ARID1A: AT rich interactive domain 1A (SWI-like)
• ARID1B: AT rich interactive domain 1B (SWI1-like)
• ARSB: arylsulfatase B
• ATG16L1: autophagy related 16-like 1 (S. cerevisiae)
• ATL1: atlastin GTPase 1
• ATM: ataxia telangiectasia mutated
• ATN1: atrophin 1
• ATP1A2: ATPase, Na+/K+ transporting, alpha 2 polypeptide
• ATP1A3: ATPase, Na+/K+ transporting, alpha 3 polypeptide
• ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
• ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
• ATP2B2: ATPase, Ca++ transporting, plasma membrane 2
• ATP6V0A2: ATPase, H+ transporting, lysosomal V0 subunit a2
• ATP7A: ATPase, Cu++ transporting, alpha polypeptide
• ATP7B: ATPase, Cu++ transporting, beta polypeptide
• ATP8B1: ATPase, aminophospholipid transporter, class I, type 8B, member 1
• ATXN1: ataxin 1
• ATXN2: ataxin 2
• ATXN3: ataxin 3
• AVP: arginine vasopressin
• AVPR2: arginine vasopressin receptor 2
• BARD1: BRCA1 associated RING domain 1
• BBS1: Bardet-Biedl syndrome 1
• BBS10: Bardet-Biedl syndrome 10
• BCHE: butyrylcholinesterase
• BCOR: BCL6 corepressor
• BDNF: brain-derived neurotrophic factor
• BEST1: bestrophin 1
• BLM: Bloom syndrome, RecQ helicase-like
• BMPR1A: bone morphogenetic protein receptor, type IA
• BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
• BRAF: v-raf murine sarcoma viral oncogene homolog B1
• BRCA1: breast cancer 1, early onset
• BRCA2: breast cancer 2, early onset
• BRIP1: BRCA1 interacting protein C-terminal helicase 1
• BSCL2: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
• BSND: Bartter syndrome, infantile, with sensorineural deafness (Barttin)
• BTK: Bruton agammaglobulinemia tyrosine kinase
• C10orf2: chromosome 10 open reading frame 2
• C3: complement component 3
• CACNA1A: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
• CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
• CACNA1S: calcium channel, voltage-dependent, L type, alpha 1S subunit
• CACNB4: calcium channel, voltage-dependent, beta 4 subunit
• CAPN3: calpain 3, (p94)
• CARD14: caspase recruitment domain family, member 14
• CASQ2: calsequestrin 2 (cardiac muscle)
• CASR: calcium-sensing receptor
• CAV3: caveolin 3
• CCM2: cerebral cavernous malformation 2
• CD40LG: CD40 ligand
• CDAN1: codanin 1
• CDC73: cell division cycle 73
• CDH1: cadherin 1, type 1, E-cadherin (epithelial)
• CDH23: cadherin-related 23
• CDKL5: cyclin-dependent kinase-like 5
• CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
• CEBPA: CCAAT/enhancer binding protein (C/EBP), alpha
• CEP290: centrosomal protein 290kDa
• CFTR: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
• CHAT: choline O-acetyltransferase
• CHD7: chromodomain helicase DNA binding protein 7
• CHEK2: checkpoint kinase 2
• CHMP2B: charged multivesicular body protein 2B
• CHN1: chimerin 1
• CHRNA2: cholinergic receptor, nicotinic, alpha 2 (neuronal)
• CHRNA4: cholinergic receptor, nicotinic, alpha 4 (neuronal)
• CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
• CHRNE: cholinergic receptor, nicotinic, epsilon (muscle)
• CHRNG: cholinergic receptor, nicotinic, gamma (muscle)
• CLCF1: cardiotrophin-like cytokine factor 1
• CLCN1: chloride channel, voltage-sensitive 1
• CLCN5: chloride channel, voltage-sensitive 5
• CLCN7: chloride channel, voltage-sensitive 7
• CLCNKA: chloride channel, voltage-sensitive Ka
• CLCNKB: chloride channel, voltage-sensitive Kb
• CLDN14: claudin 14
• CLN3: ceroid-lipofuscinosis, neuronal 3
• CLRN1: clarin 1
• CNGA3: cyclic nucleotide gated channel alpha 3
• CNGB3: cyclic nucleotide gated channel beta 3
• COCH: cochlin
• COL11A1: collagen, type XI, alpha 1
• COL11A2: collagen, type XI, alpha 2
• COL17A1: collagen, type XVII, alpha 1
• COL18A1: collagen, type XVIII, alpha 1
• COL1A1: collagen, type I, alpha 1
• COL1A2: collagen, type I, alpha 2
• COL2A1: collagen, type II, alpha 1
• COL3A1: collagen, type III, alpha 1
• COL4A1: collagen, type IV, alpha 1
• COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
• COL4A4: collagen, type IV, alpha 4
• COL4A5: collagen, type IV, alpha 5
• COL5A1: collagen, type V, alpha 1
• COL5A2: collagen, type V, alpha 2
• COL6A1: collagen, type VI, alpha 1
• COL6A2: collagen, type VI, alpha 2
• COL6A3: collagen, type VI, alpha 3
• COL7A1: collagen, type VII, alpha 1
• COL8A2: collagen, type VIII, alpha 2
• COL9A1: collagen, type IX, alpha 1
• COL9A2: collagen, type IX, alpha 2
• COL9A3: collagen, type IX, alpha 3
• COLQ: collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
• COMP: cartilage oligomeric matrix protein
• COMT: catechol-O-methyltransferase
• CP: ceruloplasmin (ferroxidase)
• CPT1A: carnitine palmitoyltransferase 1A (liver)
• CPT2: carnitine palmitoyltransferase 2
• CRB1: crumbs homolog 1 (Drosophila)
• CREBBP: CREB binding protein
• CRLF1: cytokine receptor-like factor 1
• CRTAP: cartilage associated protein
• CSF1R: colony stimulating factor 1 receptor
• CST3: cystatin C
• CTDP1: CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
• CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
• CTNND2: catenin (cadherin-associated protein), delta 2
• CTSA: cathepsin A
• 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
• 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
• DARS2: aspartyl-tRNA synthetase 2, mitochondrial
• DBH: dopamine beta-hydroxylase (dopamine beta-monooxygenase)
• DCTN1: dynactin 1
• DCX: doublecortin
• DES: desmin
• DFNA5: deafness, autosomal dominant 5
• DFNB31: deafness, autosomal recessive 31
• DICER1: dicer 1, ribonuclease type III
• DIRAS3: DIRAS family, GTP-binding RAS-like 3
• DKC1: dyskeratosis congenita 1, dyskerin
• DMD: dystrophin
• DMPK: dystrophia myotonica-protein kinase
• DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
• DNM2: dynamin 2
• DNMT1: DNA (cytosine-5-)-methyltransferase 1
• DRD3: dopamine receptor D3
• DRD5: dopamine receptor D5
• DUOX2: dual oxidase 2
• DYNC1H1: dynein, cytoplasmic 1, heavy chain 1
• EBP: emopamil binding protein (sterol isomerase)
• EDA: ectodysplasin A
• EDN3: endothelin 3
• EDNRB: endothelin receptor type B
• EFEMP2: EGF containing fibulin-like extracellular matrix protein 2
• EGLN1: egl nine homolog 1 (C. elegans)
• 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
• ELN: elastin
• EMD: emerin
• ENG: endoglin
• EP300: E1A binding protein p300
• EPAS1: endothelial PAS domain protein 1
• EPOR: erythropoietin receptor
• ERAP1: endoplasmic reticulum aminopeptidase 1
• ERBB2: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
• ERCC2: excision repair cross-complementing rodent repair deficiency, complementation group 2
• ERCC3: excision repair cross-complementing rodent repair deficiency, complementation group 3
• ERCC6: excision repair cross-complementing rodent repair deficiency, complementation group 6
• ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
• ESCO2: establishment of sister chromatid cohesion N-acetyltransferase 2
• EVC: Ellis van Creveld syndrome
• EVC2: Ellis van Creveld syndrome 2
• EXT1: exostosin glycosyltransferase 1
• EXT2: exostosin glycosyltransferase 2
• EYA1: eyes absent homolog 1 (Drosophila)
• F2: coagulation factor II (thrombin)
• F5: coagulation factor V (proaccelerin, labile factor)
• F8: coagulation factor VIII, procoagulant component
• FAM126A: family with sequence similarity 126, member A
• FANCA: Fanconi anemia, complementation group A
• FANCC: Fanconi anemia, complementation group C
• FANCG: Fanconi anemia, complementation group G
• FAS: Fas (TNF receptor superfamily, member 6)
• FBLN5: fibulin 5
• FBN1: fibrillin 1
• FBN2: fibrillin 2
• FGA: fibrinogen alpha chain
• FGB: fibrinogen beta chain
• FGD1: FYVE, RhoGEF and PH domain containing 1
• FGD4: FYVE, RhoGEF and PH domain containing 4
• FGF23: fibroblast growth factor 23
• FGF3: fibroblast growth factor 3
• FGFR1: fibroblast growth factor receptor 1
• FGFR2: fibroblast growth factor receptor 2
• FGFR3: fibroblast growth factor receptor 3
• FGFR4: fibroblast growth factor receptor 4
• FGFRL1: fibroblast growth factor receptor-like 1
• FGG: fibrinogen gamma chain
• FKTN: fukutin
• FLCN: folliculin
• FLNA: filamin A, alpha
• FLNB: filamin B, beta
• 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)
• FOXG1: forkhead box G1
• FOXL2: forkhead box L2
• FOXP3: forkhead box P3
• FRMD7: FERM domain containing 7
• FTL: ferritin, light polypeptide
• FXN: frataxin
• FZD4: frizzled family receptor 4
• G6PC: glucose-6-phosphatase, catalytic subunit
• G6PD: glucose-6-phosphate dehydrogenase
• GAA: glucosidase, alpha; acid
• GABRA1: gamma-aminobutyric acid (GABA) A receptor, alpha 1
• GATA1: GATA binding protein 1 (globin transcription factor 1)
• GBA: glucosidase, beta, acid
• GDAP1: ganglioside induced differentiation associated protein 1
• GDF6: growth differentiation factor 6
• GH1: growth hormone 1
• GHRHR: growth hormone releasing hormone receptor
• GJA1: gap junction protein, alpha 1, 43kDa
• GJB1: gap junction protein, beta 1, 32kDa
• GJB2: gap junction protein, beta 2, 26kDa
• GJB3: gap junction protein, beta 3, 31kDa
• GLI3: GLI family zinc finger 3
• GLRA1: glycine receptor, alpha 1
• GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
• GNAS: GNAS complex locus
• GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
• GNE: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
• GPC3: glypican 3
• GPR143: G protein-coupled receptor 143
• GPR56: G protein-coupled receptor 56
• GPR98: G protein-coupled receptor 98
• GRN: granulin
• GSN: gelsolin
• GSS: glutathione synthetase
• GTF2I: general transcription factor IIi
• GUCY2D: guanylate cyclase 2D, membrane (retina-specific)
• HAX1: HCLS1 associated protein X-1
• HBA2: hemoglobin, alpha 2
• HBB: hemoglobin, beta
• HFE: hemochromatosis
• HFE2: hemochromatosis type 2 (juvenile)
• HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase
• HLA-B: major histocompatibility complex, class I, B
• 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 (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
• HPS1: Hermansky-Pudlak syndrome 1
• HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
• HSPB1: heat shock 27kDa protein 1
• HTT: huntingtin
• IGF2: insulin-like growth factor 2 (somatomedin A)
• 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
• IL2RG: interleukin 2 receptor, gamma
• IL7R: interleukin 7 receptor
• INS: insulin
• IRAK4: interleukin-1 receptor-associated kinase 4
• IRF5: interferon regulatory factor 5
• IRF6: interferon regulatory factor 6
• ITGA6: integrin, alpha 6
• ITGB4: integrin, beta 4
• JAG1: jagged 1
• JAK2: Janus kinase 2
• JPH3: junctophilin 3
• KAL1: Kallmann syndrome 1 sequence
• KANSL1: KAT8 regulatory NSL complex subunit 1
• KAT6B: K(lysine) acetyltransferase 6B
• KCNA1: potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
• KCNE1: potassium voltage-gated channel, Isk-related family, member 1
• KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2
• KCNJ1: potassium inwardly-rectifying channel, subfamily J, member 1
• KCNJ11: potassium inwardly-rectifying channel, subfamily J, member 11
• KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2
• KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1
• KCNQ2: potassium voltage-gated channel, KQT-like subfamily, member 2
• KCNQ3: potassium voltage-gated channel, KQT-like subfamily, member 3
• KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4
• KIF1B: kinesin family member 1B
• KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
• KL: klotho
• KMT2D: myeloid/lymphoid or mixed-lineage leukemia 2
• KRAS: v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
• KRIT1: KRIT1, ankyrin repeat containing
• KRT10: keratin 10
• KRT14: keratin 14
• KRT16: keratin 16
• KRT17: keratin 17
• KRT3: keratin 3
• KRT5: keratin 5
• KRT6A: keratin 6A
• KRT6C: keratin 6C
• KRT86: keratin 86
• L1CAM: L1 cell adhesion molecule
• LAMA3: laminin, alpha 3
• LAMB3: laminin, beta 3
• LAMC2: laminin, gamma 2
• LAMP2: lysosomal-associated membrane protein 2
• LDLR: low density lipoprotein receptor
• LDLRAP1: low density lipoprotein receptor adaptor protein 1
• LEPRE1: leucine proline-enriched proteoglycan (leprecan) 1
• LETM1: leucine zipper-EF-hand containing transmembrane protein 1
• LFNG: LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
• LGI1: leucine-rich, glioma inactivated 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
• LPAR6: lysophosphatidic acid receptor 6
• 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
• LYST: lysosomal trafficking regulator
• 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)
• MCM6: minichromosome maintenance complex component 6
• MCOLN1: mucolipin 1
• MED12: mediator complex subunit 12
• MEFV: Mediterranean fever
• MEN1: multiple endocrine neoplasia I
• MFN2: mitofusin 2
• MID1: midline 1 (Opitz/BBB syndrome)
• MITF: microphthalmia-associated transcription factor
• MKKS: McKusick-Kaufman syndrome
• MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
• MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
• MMP20: matrix metallopeptidase 20
• MPL: myeloproliferative leukemia virus oncogene
• MPV17: MpV17 mitochondrial inner membrane protein
• MPZ: myelin protein zero
• MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
• MSH6: mutS homolog 6 (E. coli)
• MSX1: msh homeobox 1
• MSX2: msh homeobox 2
• MT-ATP6: mitochondrially encoded ATP synthase 6
• MTM1: myotubularin 1
• MTMR2: myotubularin related protein 2
• MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
• MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
• MUTYH: mutY homolog (E. coli)
• MYBPC1: myosin binding protein C, slow type
• MYBPC3: myosin binding protein C, cardiac
• MYH3: myosin, heavy chain 3, skeletal muscle, embryonic
• MYH7: myosin, heavy chain 7, cardiac muscle, beta
• MYH9: myosin, heavy chain 9, non-muscle
• MYO1A: myosin IA
• MYO6: myosin VI
• MYO7A: myosin VIIA
• NBN: nibrin
• NCF1: neutrophil cytosolic factor 1
• NCF2: neutrophil cytosolic factor 2
• NCF4: neutrophil cytosolic factor 4, 40kDa
• NDP: Norrie disease (pseudoglioma)
• NDRG1: N-myc downstream regulated 1
• NEB: nebulin
• NEFL: neurofilament, light polypeptide
• NF1: neurofibromin 1
• NF2: neurofibromin 2 (merlin)
• NGF: nerve growth factor (beta polypeptide)
• NIPBL: Nipped-B homolog (Drosophila)
• NLRP1: NLR family, pyrin domain containing 1
• 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
• 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
• OCRL: oculocerebrorenal syndrome of Lowe
• OFD1: oral-facial-digital syndrome 1
• 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
• OTOF: otoferlin
• OTX2: orthodenticle homeobox 2
• 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
• PARK2: parkinson protein 2, E3 ubiquitin protein ligase (parkin)
• PARK7: parkinson protein 7
• PAX2: paired box 2
• PAX3: paired box 3
• PAX6: paired box 6
• PAX8: paired box 8
• PCDH15: protocadherin-related 15
• PCNT: pericentrin
• PCSK9: proprotein convertase subtilisin/kexin type 9
• PDCD10: programmed cell death 10
• PDGFB: platelet-derived growth factor beta polypeptide
• PDGFRA: platelet-derived growth factor receptor, alpha polypeptide
• PDGFRB: platelet-derived growth factor receptor, beta polypeptide
• PEX1: peroxisomal biogenesis factor 1
• PEX7: peroxisomal biogenesis factor 7
• PHEX: phosphate regulating endopeptidase homolog, X-linked
• PHOX2A: paired-like homeobox 2a
• PHOX2B: paired-like homeobox 2b
• 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)
• PKP2: plakophilin 2
• PLA2G6: phospholipase A2, group VI (cytosolic, calcium-independent)
• PLAGL1: pleiomorphic adenoma gene-like 1
• PLEC: plectin
• PLG: plasminogen
• PLOD1: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
• PLP1: proteolipid protein 1
• PML: promyelocytic leukemia
• PMP22: peripheral myelin protein 22
• PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
• PNP: purine nucleoside phosphorylase
• POLG: polymerase (DNA directed), gamma
• POLH: polymerase (DNA directed), eta
• POU3F4: POU class 3 homeobox 4
• PPP1R12A: protein phosphatase 1, regulatory subunit 12A
• PPT1: palmitoyl-protein thioesterase 1
• PRF1: perforin 1 (pore forming protein)
• 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)
• PRSS1: protease, serine, 1 (trypsin 1)
• PRX: periaxin
• PSAP: prosaposin
• PSEN1: presenilin 1
• PSEN2: presenilin 2 (Alzheimer disease 4)
• 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)
• RAB23: RAB23, member RAS oncogene family
• RAB7A: RAB7A, member RAS oncogene family
• RAD50: RAD50 homolog (S. cerevisiae)
• RAD51: RAD51 homolog (S. cerevisiae)
• RAF1: v-raf-1 murine leukemia viral oncogene homolog 1
• RAPSN: receptor-associated protein of the synapse
• RARA: retinoic acid receptor, alpha
• RASA1: RAS p21 protein activator (GTPase activating protein) 1
• RB1: retinoblastoma 1
• RBM8A: RNA binding motif protein 8A
• RECQL4: RecQ protein-like 4
• REN: renin
• RET: ret proto-oncogene
• RHO: rhodopsin
• ROBO3: roundabout, axon guidance receptor, homolog 3 (Drosophila)
• ROR2: receptor tyrosine kinase-like orphan receptor 2
• RPE65: retinal pigment epithelium-specific protein 65kDa
• RPGR: retinitis pigmentosa GTPase regulator
• 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
• RUNX2: runt-related transcription factor 2
• RYR1: ryanodine receptor 1 (skeletal)
• RYR2: ryanodine receptor 2 (cardiac)
• SAA1: serum amyloid A1
• SACS: spastic ataxia of Charlevoix-Saguenay (sacsin)
• SALL1: sal-like 1 (Drosophila)
• SAR1B: SAR1 homolog B (S. cerevisiae)
• SBDS: Shwachman-Bodian-Diamond syndrome
• SBF2: SET binding factor 2
• SCN10A: sodium channel, voltage-gated, type X, alpha subunit
• SCN5A: sodium channel, voltage-gated, type V, alpha subunit
• SCNN1A: sodium channel, non-voltage-gated 1 alpha subunit
• SCNN1B: sodium channel, non-voltage-gated 1, beta subunit
• SCNN1G: sodium channel, non-voltage-gated 1, gamma subunit
• SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
• SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
• SETX: senataxin
• SGCE: sarcoglycan, epsilon
• SH2D1A: SH2 domain containing 1A
• SH3BP2: SH3-domain binding protein 2
• SHANK3: SH3 and multiple ankyrin repeat domains 3
• SHH: sonic hedgehog
• SIL1: SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
• SIX1: SIX homeobox 1
• SKI: v-ski sarcoma viral oncogene homolog (avian)
• SLC12A1: solute carrier family 12 (sodium/potassium/chloride transporters), member 1
• SLC12A3: solute carrier family 12 (sodium/chloride transporters), member 3
• SLC12A6: solute carrier family 12 (potassium/chloride transporters), member 6
• SLC17A5: solute carrier family 17 (anion/sugar transporter), member 5
• SLC1A3: solute carrier family 1 (glial high affinity glutamate transporter), member 3
• SLC20A2: solute carrier family 20 (phosphate transporter), member 2
• SLC22A5: solute carrier family 22 (organic cation/carnitine transporter), member 5
• 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 (sulfate transporter), member 2
• SLC26A4: solute carrier family 26, member 4
• SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
• SLC2A10: solute carrier family 2 (facilitated glucose transporter), member 10
• SLC37A4: solute carrier family 37 (glucose-6-phosphate transporter), member 4
• SLC3A1: solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
• SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
• SLC46A1: solute carrier family 46 (folate transporter), member 1
• SLC5A1: solute carrier family 5 (sodium/glucose cotransporter), member 1
• SLC5A5: solute carrier family 5 (sodium iodide symporter), member 5
• SLC7A7: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
• SLC7A9: solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
• SLC9A6: solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
• 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
• 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
• SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal
• SNAI2: snail homolog 2 (Drosophila)
• 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
• SOX2: SRY (sex determining region Y)-box 2
• SOX9: SRY (sex determining region Y)-box 9
• SP110: SP110 nuclear body protein
• SPAST: spastin
• SPG20: spastic paraplegia 20 (Troyer syndrome)
• SPRED1: sprouty-related, EVH1 domain containing 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)
• STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
• STAT4: signal transducer and activator of transcription 4
• STK11: serine/threonine kinase 11
• STRC: stereocilin
• SYNE1: spectrin repeat containing, nuclear envelope 1
• T: T, brachyury homolog (mouse)
• TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
• TAZ: tafazzin
• TBX1: T-box 1
• TBX5: T-box 5
• TCF4: transcription factor 4
• TCIRG1: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
• 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)
• TFR2: transferrin receptor 2
• TG: thyroglobulin
• TGFB1: transforming growth factor, beta 1
• TGFBI: transforming growth factor, beta-induced, 68kDa
• 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 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
• TH: tyrosine hydroxylase
• THPO: thrombopoietin
• TIMM8A: translocase of inner mitochondrial membrane 8 homolog A (yeast)
• TINF2: TERF1 (TRF1)-interacting nuclear factor 2
• TMEM127: transmembrane protein 127
• TMPRSS3: transmembrane protease, serine 3
• TNFRSF11A: tumor necrosis factor receptor superfamily, member 11a, NFKB activator
• TNFRSF13B: tumor necrosis factor receptor superfamily, member 13B
• TNFRSF1A: tumor necrosis factor receptor superfamily, member 1A
• TNNI3: troponin I type 3 (cardiac)
• TNNT2: troponin T type 2 (cardiac)
• TNXB: tenascin XB
• TP53: tumor protein p53
• TP63: tumor protein p63
• TPM2: tropomyosin 2 (beta)
• TPM3: tropomyosin 3
• 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
• TRPV4: transient receptor potential cation channel, subfamily V, member 4
• TSC1: tuberous sclerosis 1
• TSC2: tuberous sclerosis 2
• TSHB: thyroid stimulating hormone, beta
• TSHR: thyroid stimulating hormone receptor
• TTN: titin
• TTR: transthyretin
• TWIST1: twist basic helix-loop-helix transcription factor 1
• TYMP: thymidine phosphorylase
• TYROBP: TYRO protein tyrosine kinase binding protein
• UBE3A: ubiquitin protein ligase E3A
• UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
• UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
• UNC13D: unc-13 homolog D (C. elegans)
• USH1C: Usher syndrome 1C (autosomal recessive, severe)
• USH1G: Usher syndrome 1G (autosomal recessive)
• USH2A: Usher syndrome 2A (autosomal recessive, mild)
• 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
• VHL: von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
• VLDLR: very low density lipoprotein receptor
• VPS13A: vacuolar protein sorting 13 homolog A (S. cerevisiae)
• VRK1: vaccinia related kinase 1
• VWF: von Willebrand factor
• WAS: Wiskott-Aldrich syndrome
• WFS1: Wolfram syndrome 1 (wolframin)
• WISP3: WNT1 inducible signaling pathway protein 3
• WNK1: WNK lysine deficient protein kinase 1
• WNK4: WNK lysine deficient protein kinase 4
• WNT3: wingless-type MMTV integration site family, member 3
• 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 polypeptide
• ZAP70: zeta-chain (TCR) associated protein kinase 70kDa

Source: Gene Ontology Consortium.