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Single-multicellular organism process

Single-multicellular organism process

  • ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
  • ABCA4: ATP-binding cassette, sub-family A (ABC1), member 4
  • 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
  • ACAN: aggrecan
  • ACE: angiotensin I converting enzyme
  • 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
  • ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
  • AFF2: AF4/FMR2 family, member 2
  • AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2
  • AGT: angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
  • AGTR1: angiotensin II receptor, type 1
  • AKT1: v-akt murine thymoma viral oncogene homolog 1
  • ALAS2: aminolevulinate, delta-, synthase 2
  • ALDH3A2: aldehyde dehydrogenase 3 family, member A2
  • ALDH5A1: aldehyde dehydrogenase 5 family, member A1
  • ALDH7A1: aldehyde dehydrogenase 7 family, member A1
  • ALK: anaplastic lymphoma receptor tyrosine kinase
  • ALOX12B: arachidonate 12-lipoxygenase, 12R type
  • ALOXE3: arachidonate lipoxygenase 3
  • ALPL: alkaline phosphatase, liver/bone/kidney
  • ALS2: amyotrophic lateral sclerosis 2 (juvenile)
  • ALX1: ALX homeobox 1
  • ALX4: ALX homeobox 4
  • 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
  • ANKH: ANKH inorganic pyrophosphate transport regulator
  • APOA1: apolipoprotein A-I
  • APOB: apolipoprotein B
  • APOE: apolipoprotein E
  • APP: amyloid beta (A4) precursor protein
  • AQP2: aquaporin 2 (collecting duct)
  • AR: androgen receptor
  • ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
  • ARMS2: age-related maculopathy susceptibility 2
  • ARSE: arylsulfatase E (chondrodysplasia punctata 1)
  • ATL1: atlastin GTPase 1
  • ATM: ATM serine/threonine kinase
  • 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
  • ATP2C1: ATPase, Ca++ transporting, type 2C, member 1
  • ATP6V0A4: ATPase, H+ transporting, lysosomal V0 subunit a4
  • ATP6V1B1: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide
  • ATXN3: ataxin 3
  • AVPR2: arginine vasopressin receptor 2
  • BARD1: BRCA1 associated RING domain 1
  • BBS1: Bardet-Biedl syndrome 1
  • BBS10: Bardet-Biedl syndrome 10
  • BCOR: BCL6 corepressor
  • BDNF: brain-derived neurotrophic factor
  • BEST1: bestrophin 1
  • BIN1: bridging integrator 1
  • 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
  • BTD: biotinidase
  • BTK: Bruton agammaglobulinemia tyrosine kinase
  • C3: complement component 3
  • CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
  • CACNA1F: calcium channel, voltage-dependent, L type, alpha 1F subunit
  • CACNA1S: calcium channel, voltage-dependent, L type, alpha 1S subunit
  • CACNB4: calcium channel, voltage-dependent, beta 4 subunit
  • CALR: calreticulin
  • CAPN3: calpain 3, (p94)
  • CASQ2: calsequestrin 2 (cardiac muscle)
  • CASR: calcium-sensing receptor
  • CAT: catalase
  • CAV3: caveolin 3
  • CCBE1: collagen and calcium binding EGF domains 1
  • CCM2: cerebral cavernous malformation 2
  • CD40LG: CD40 ligand
  • CDC73: cell division cycle 73
  • CDH23: cadherin-related 23
  • CDKL5: cyclin-dependent kinase-like 5
  • 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)
  • CHD7: chromodomain helicase DNA binding protein 7
  • CHM: choroideremia (Rab escort protein 1)
  • CHN1: chimerin 1
  • 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)
  • CISD2: CDGSH iron sulfur domain 2
  • CLCF1: cardiotrophin-like cytokine factor 1
  • CLCN1: chloride channel, voltage-sensitive 1
  • CLCN5: chloride channel, voltage-sensitive 5
  • CLCNKA: chloride channel, voltage-sensitive Ka
  • CLCNKB: chloride channel, voltage-sensitive Kb
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • CLN5: ceroid-lipofuscinosis, neuronal 5
  • CLN8: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
  • 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
  • COMP: cartilage oligomeric matrix protein
  • CPS1: carbamoyl-phosphate synthase 1, mitochondrial
  • CREBBP: CREB binding protein
  • CSF1R: colony stimulating factor 1 receptor
  • CST3: cystatin C
  • CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
  • CTNS: cystinosin, lysosomal cystine transporter
  • CTSD: cathepsin D
  • CUBN: cubilin (intrinsic factor-cobalamin receptor)
  • CUL7: cullin 7
  • CYBA: cytochrome b-245, alpha 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
  • CYP27B1: cytochrome P450, family 27, subfamily B, polypeptide 1
  • DCN: decorin
  • DCTN1: dynactin 1
  • DCX: doublecortin
  • DES: desmin
  • DFNA5: deafness, autosomal dominant 5
  • DFNB31: deafness, autosomal recessive 31
  • DHCR24: 24-dehydrocholesterol reductase
  • DICER1: dicer 1, ribonuclease type III
  • DLL3: delta-like 3 (Drosophila)
  • DMD: dystrophin
  • DMPK: dystrophia myotonica-protein kinase
  • DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
  • DOCK6: dedicator of cytokinesis 6
  • DRD3: dopamine receptor D3
  • DSPP: dentin sialophosphoprotein
  • DUOX2: dual oxidase 2
  • EBP: emopamil binding protein (sterol isomerase)
  • EDAR: ectodysplasin A receptor
  • EDN3: endothelin 3
  • EDNRB: endothelin receptor type B
  • 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
  • ELN: elastin
  • EMD: emerin
  • ENG: endoglin
  • EP300: E1A binding protein p300
  • ERAP1: endoplasmic reticulum aminopeptidase 1
  • 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
  • EVC: Ellis van Creveld syndrome
  • EXT1: exostosin glycosyltransferase 1
  • EXT2: exostosin glycosyltransferase 2
  • EYA1: EYA transcriptional coactivator and phosphatase 1
  • EYA4: EYA transcriptional coactivator and phosphatase 4
  • EZH2: enhancer of zeste 2 polycomb repressive complex 2 subunit
  • F12: coagulation factor XII (Hageman factor)
  • F2: coagulation factor II (thrombin)
  • F5: coagulation factor V (proaccelerin, labile factor)
  • F8: coagulation factor VIII, procoagulant component
  • F9: coagulation factor IX
  • FAM134B: family with sequence similarity 134, member B
  • FAT4: FAT atypical cadherin 4
  • FBN1: fibrillin 1
  • FBN2: fibrillin 2
  • FGA: fibrinogen alpha chain
  • FGB: fibrinogen beta chain
  • FGD1: FYVE, RhoGEF and PH domain containing 1
  • FGF10: fibroblast growth factor 10
  • 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
  • FGG: fibrinogen gamma chain
  • 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
  • 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
  • FREM1: FRAS1 related extracellular matrix 1
  • FRMD7: FERM domain containing 7
  • FZD4: frizzled class receptor 4
  • G6PD: glucose-6-phosphate dehydrogenase
  • GAA: glucosidase, alpha; acid
  • GAMT: guanidinoacetate N-methyltransferase
  • GATA1: GATA binding protein 1 (globin transcription factor 1)
  • GBA: glucosidase, beta, acid
  • GCH1: GTP cyclohydrolase 1
  • GDF3: growth differentiation factor 3
  • 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
  • GJB6: gap junction protein, beta 6, 30kDa
  • 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
  • GNAT1: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
  • GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
  • GPC3: glypican 3
  • GPI: glucose-6-phosphate isomerase
  • GPR143: G protein-coupled receptor 143
  • GPR56: G protein-coupled receptor 56
  • GPR98: G protein-coupled receptor 98
  • GRHPR: glyoxylate reductase/hydroxypyruvate reductase
  • GRM6: glutamate receptor, metabotropic 6
  • GSS: glutathione synthetase
  • GTF2I: general transcription factor IIi
  • GUCY2D: guanylate cyclase 2D, membrane (retina-specific)
  • HAX1: HCLS1 associated protein X-1
  • HBB: hemoglobin, beta
  • HCCS: holocytochrome c synthase
  • HCN4: hyperpolarization activated cyclic nucleotide-gated potassium channel 4
  • HESX1: HESX homeobox 1
  • HFE2: hemochromatosis type 2 (juvenile)
  • HLA-B: major histocompatibility complex, class I, B
  • HLA-DPB1: major histocompatibility complex, class II, DP beta 1
  • HOXA13: homeobox A13
  • HRAS: Harvey rat sarcoma viral oncogene homolog
  • HSD17B3: hydroxysteroid (17-beta) dehydrogenase 3
  • HSD17B4: hydroxysteroid (17-beta) dehydrogenase 4
  • HSPB1: heat shock 27kDa protein 1
  • HTT: huntingtin
  • IFT122: intraflagellar transport 122
  • IFT140: intraflagellar transport 140
  • IGF2: insulin-like growth factor 2
  • IKBKG: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
  • IL1A: interleukin 1, alpha
  • IL23R: interleukin 23 receptor
  • INS: insulin
  • IRF5: interferon regulatory factor 5
  • IRF6: interferon regulatory factor 6
  • 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
  • JAG1: jagged 1
  • JAK2: Janus kinase 2
  • KAL1: Kallmann syndrome 1 sequence
  • KCNE1: potassium voltage-gated channel, Isk-related family, member 1
  • KCNE2: potassium voltage-gated channel, Isk-related family, member 2
  • 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
  • KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
  • KL: klotho
  • KLKB1: kallikrein B, plasma (Fletcher factor) 1
  • KRAS: Kirsten rat sarcoma viral oncogene homolog
  • KRIT1: KRIT1, ankyrin repeat containing
  • KRT1: keratin 1
  • KRT10: keratin 10
  • KRT12: keratin 12
  • KRT14: keratin 14
  • KRT16: keratin 16
  • KRT17: keratin 17
  • KRT5: keratin 5
  • KRT83: keratin 83
  • L1CAM: L1 cell adhesion molecule
  • LAMA2: laminin, alpha 2
  • LAMA3: laminin, alpha 3
  • LAMB3: laminin, beta 3
  • LAMC2: laminin, gamma 2
  • LAMP2: lysosomal-associated membrane protein 2
  • LCAT: lecithin-cholesterol acyltransferase
  • LCT: lactase
  • LDHA: lactate dehydrogenase A
  • LDLR: low density lipoprotein receptor
  • LDLRAP1: low density lipoprotein receptor adaptor protein 1
  • LEP: leptin
  • LEPR: leptin receptor
  • LEPRE1: leucine proline-enriched proteoglycan (leprecan) 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
  • LMNA: lamin A/C
  • LMX1B: LIM homeobox transcription factor 1, beta
  • LOR: loricrin
  • LPL: lipoprotein lipase
  • LRP5: low density lipoprotein receptor-related protein 5
  • LRRK2: leucine-rich repeat kinase 2
  • MAGT1: magnesium transporter 1
  • MAP2K1: mitogen-activated protein kinase kinase 1
  • MAP2K2: mitogen-activated protein kinase kinase 2
  • MAPT: microtubule-associated protein tau
  • MATN3: matrilin 3
  • MC1R: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
  • MEFV: Mediterranean fever
  • MEGF8: multiple EGF-like-domains 8
  • MEN1: multiple endocrine neoplasia I
  • MFN2: mitofusin 2
  • MID1: midline 1
  • MKKS: McKusick-Kaufman syndrome
  • MLH1: mutL homolog 1
  • MMP14: matrix metallopeptidase 14 (membrane-inserted)
  • MMP2: matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
  • MMP20: matrix metallopeptidase 20
  • MPL: MPL proto-oncogene, thrombopoietin receptor
  • MPV17: MpV17 mitochondrial inner membrane protein
  • MSH2: mutS homolog 2
  • MSH6: mutS homolog 6
  • MSTN: myostatin
  • MSX1: msh homeobox 1
  • MSX2: msh homeobox 2
  • MTHFR: methylenetetrahydrofolate reductase (NAD(P)H)
  • MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
  • MYBPC1: myosin binding protein C, slow type
  • MYBPC3: myosin binding protein C, cardiac
  • MYH11: myosin, heavy chain 11, smooth muscle
  • 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
  • MYO15A: myosin XVA
  • MYO1A: myosin IA
  • MYO7A: myosin VIIA
  • MYOC: myocilin, trabecular meshwork inducible glucocorticoid response
  • MYOT: myotilin
  • NAGLU: N-acetylglucosaminidase, alpha
  • NBEAL2: neurobeachin-like 2
  • NDP: Norrie disease (pseudoglioma)
  • NEB: nebulin
  • NEFH: neurofilament, heavy polypeptide
  • 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)
  • 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
  • NPHP1: nephronophthisis 1 (juvenile)
  • NR0B1: nuclear receptor subfamily 0, group B, member 1
  • 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
  • NTRK1: neurotrophic tyrosine kinase, receptor, type 1
  • OAT: ornithine aminotransferase
  • OFD1: oral-facial-digital syndrome 1
  • OPA1: optic atrophy 1 (autosomal dominant)
  • OPA3: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
  • 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)
  • 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
  • PCDH15: protocadherin-related 15
  • PCSK9: proprotein convertase subtilisin/kexin type 9
  • 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
  • PGAM2: phosphoglycerate mutase 2 (muscle)
  • PHEX: phosphate regulating endopeptidase homolog, X-linked
  • PHGDH: phosphoglycerate dehydrogenase
  • PHOX2A: paired-like homeobox 2a
  • PHOX2B: paired-like homeobox 2b
  • 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)
  • 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
  • PKP2: plakophilin 2
  • 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
  • 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
  • POU3F4: POU class 3 homeobox 4
  • PPT1: palmitoyl-protein thioesterase 1
  • PQBP1: polyglutamine binding protein 1
  • PRICKLE1: prickle homolog 1 (Drosophila)
  • PRKAR1A: protein kinase, cAMP-dependent, regulatory, type I, alpha
  • PRNP: prion protein
  • PROC: protein C (inactivator of coagulation factors Va and VIIIa)
  • PROK2: prokineticin 2
  • PROP1: PROP paired-like homeobox 1
  • PROS1: protein S (alpha)
  • PRPH2: peripherin 2 (retinal degeneration, slow)
  • PRPS1: phosphoribosyl pyrophosphate synthetase 1
  • PRRT2: proline-rich transmembrane protein 2
  • PRX: periaxin
  • PSAP: prosaposin
  • 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
  • RAB23: RAB23, member RAS oncogene family
  • RAF1: Raf-1 proto-oncogene, serine/threonine kinase
  • RAI1: retinoic acid induced 1
  • RARA: retinoic acid receptor, alpha
  • RASA1: RAS p21 protein activator (GTPase activating protein) 1
  • RBPJ: recombination signal binding protein for immunoglobulin kappa J region
  • RECQL4: RecQ protein-like 4
  • RELN: reelin
  • REN: renin
  • RET: ret proto-oncogene
  • ROBO3: roundabout, axon guidance receptor, homolog 3 (Drosophila)
  • ROR2: receptor tyrosine kinase-like orphan receptor 2
  • RP2: retinitis pigmentosa 2 (X-linked recessive)
  • RPE65: retinal pigment epithelium-specific protein 65kDa
  • RPGR: retinitis pigmentosa GTPase regulator
  • RPS19: ribosomal protein S19
  • RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
  • RS1: retinoschisin 1
  • RUNX1: runt-related transcription factor 1
  • RUNX2: runt-related transcription factor 2
  • RYR1: ryanodine receptor 1 (skeletal)
  • RYR2: ryanodine receptor 2 (cardiac)
  • SAA1: serum amyloid A1
  • SALL1: spalt-like transcription factor 1
  • SBDS: Shwachman-Bodian-Diamond syndrome
  • SBF2: SET binding factor 2
  • SCN10A: sodium channel, voltage-gated, type X, alpha subunit
  • SCN1A: sodium channel, voltage-gated, type I, alpha subunit
  • SCN4A: sodium channel, voltage-gated, type IV, alpha subunit
  • SCN5A: sodium channel, voltage-gated, type V, alpha subunit
  • SCN9A: sodium channel, voltage-gated, type IX, 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
  • SDHA: succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
  • SDHAF2: succinate dehydrogenase complex assembly factor 2
  • SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
  • SERPINC1: serpin peptidase inhibitor, clade C (antithrombin), member 1
  • SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
  • SERPINI1: serpin peptidase inhibitor, clade I (neuroserpin), member 1
  • SFTPB: surfactant protein B
  • SGCA: sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
  • SGCB: sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
  • SGCD: sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
  • SGCE: sarcoglycan, epsilon
  • SGCG: sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
  • SHANK3: SH3 and multiple ankyrin repeat domains 3
  • SHH: sonic hedgehog
  • SHOX: short stature homeobox
  • SI: sucrase-isomaltase (alpha-glucosidase)
  • SIX1: SIX homeobox 1
  • SIX3: SIX homeobox 3
  • SKI: SKI proto-oncogene
  • SLC12A6: solute carrier family 12 (potassium/chloride transporter), member 6
  • SLC22A5: solute carrier family 22 (organic cation/carnitine transporter), member 5
  • SLC26A4: solute carrier family 26 (anion exchanger), member 4
  • SLC52A3: solute carrier family 52 (riboflavin transporter), member 3
  • 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
  • SLC9A6: solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
  • 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
  • SMOC1: SPARC related modular calcium binding 1
  • SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal
  • SNAI2: snail family zinc finger 2
  • 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
  • SPG20: spastic paraplegia 20 (Troyer syndrome)
  • SPG7: spastic paraplegia 7 (pure and complicated autosomal recessive)
  • SPINK5: serine peptidase inhibitor, Kazal type 5
  • SRD5A2: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
  • SRY: sex determining region Y
  • STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
  • STIM1: stromal interaction molecule 1
  • STK11: serine/threonine kinase 11
  • STRC: stereocilin
  • T: T, brachyury homolog (mouse)
  • TAZ: tafazzin
  • TBX1: T-box 1
  • TBX5: T-box 5
  • TCF4: transcription factor 4
  • TCOF1: Treacher Collins-Franceschetti syndrome 1
  • TECTA: tectorin alpha
  • TEK: TEK tyrosine kinase, endothelial
  • 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
  • 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
  • TGM5: transglutaminase 5
  • TH: tyrosine hydroxylase
  • THPO: thrombopoietin
  • TIMM8A: translocase of inner mitochondrial membrane 8 homolog A (yeast)
  • TMPRSS6: transmembrane protease, serine 6
  • TNFRSF11A: tumor necrosis factor receptor superfamily, member 11a, NFKB activator
  • TNFRSF11B: tumor necrosis factor receptor superfamily, member 11b
  • TNNI3: troponin I type 3 (cardiac)
  • TNNT2: troponin T type 2 (cardiac)
  • TNXB: tenascin XB
  • TOR1A: torsin family 1, member A (torsin A)
  • TP53: tumor protein p53
  • TP63: tumor protein p63
  • TPM2: tropomyosin 2 (beta)
  • TPM3: tropomyosin 3
  • 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
  • TRPM1: transient receptor potential cation channel, subfamily M, member 1
  • TRPS1: trichorhinophalangeal syndrome I
  • TRPV4: transient receptor potential cation channel, subfamily V, member 4
  • TSC2: tuberous sclerosis 2
  • TTN: titin
  • TWIST1: twist family bHLH transcription factor 1
  • TYR: tyrosinase
  • TYROBP: TYRO protein tyrosine kinase binding protein
  • UBE3A: ubiquitin protein ligase E3A
  • UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
  • USH1C: Usher syndrome 1C (autosomal recessive, severe)
  • USH1G: Usher syndrome 1G (autosomal recessive)
  • USH2A: Usher syndrome 2A (autosomal recessive, mild)
  • VCAN: versican
  • VDR: vitamin D (1,25- dihydroxyvitamin D3) receptor
  • VLDLR: very low density lipoprotein receptor
  • VWF: von Willebrand factor
  • WAS: Wiskott-Aldrich syndrome
  • WFS1: Wolfram syndrome 1 (wolframin)
  • 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
  • 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
  • ZIC2: Zic family member 2

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

 
Published: October 20, 2014