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Intracellular organelle part

Intracellular organelle part

  • AAAS: achalasia, adrenocortical insufficiency, alacrimia
  • AASS: aminoadipate-semialdehyde synthase
  • 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
  • ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
  • 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
  • ACTA1: actin, alpha 1, skeletal muscle
  • ACTB: actin, beta
  • AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2
  • AGPS: alkylglycerone phosphate synthase
  • AGXT: alanine-glyoxylate aminotransferase
  • AKT1: v-akt murine thymoma viral oncogene homolog 1
  • ALAS1: aminolevulinate, delta-, synthase 1
  • ALAS2: aminolevulinate, delta-, synthase 2
  • 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
  • ALMS1: Alstrom syndrome 1
  • ALS2: amyotrophic lateral sclerosis 2 (juvenile)
  • ANG: angiogenin, ribonuclease, RNase A family, 5
  • APC: adenomatous polyposis coli
  • APOA1: apolipoprotein A-I
  • APOB: apolipoprotein B (including Ag(x) antigen)
  • 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)
  • ARSA: arylsulfatase A
  • ARSB: arylsulfatase B
  • ARSE: arylsulfatase E (chondrodysplasia punctata 1)
  • ASAH1: N-acylsphingosine amidohydrolase (acid ceramidase) 1
  • ATL1: atlastin GTPase 1
  • ATM: ataxia telangiectasia mutated
  • ATN1: atrophin 1
  • ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
  • ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
  • ATP6V0A2: ATPase, H+ transporting, lysosomal V0 subunit a2
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide
  • ATP7B: ATPase, Cu++ transporting, beta polypeptide
  • ATRX: alpha thalassemia/mental retardation syndrome X-linked
  • ATXN1: ataxin 1
  • ATXN3: ataxin 3
  • AUH: AU RNA binding protein/enoyl-CoA hydratase
  • 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
  • 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)
  • C10orf2: chromosome 10 open reading frame 2
  • CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
  • CASQ2: calsequestrin 2 (cardiac muscle)
  • CBS: cystathionine-beta-synthase
  • CDC73: cell division cycle 73
  • CEP290: centrosomal protein 290kDa
  • CFTR: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
  • CHEK2: checkpoint kinase 2
  • CHST3: carbohydrate (chondroitin 6) sulfotransferase 3
  • CIRH1A: cirrhosis, autosomal recessive 1A (cirhin)
  • CISD2: CDGSH iron sulfur domain 2
  • CLCN5: chloride channel, voltage-sensitive 5
  • CLCN7: chloride channel, voltage-sensitive 7
  • CLIP2: CAP-GLY domain containing linker protein 2
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • 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
  • CPOX: coproporphyrinogen oxidase
  • CPS1: carbamoyl-phosphate synthase 1, mitochondrial
  • CPT1A: carnitine palmitoyltransferase 1A (liver)
  • CPT2: carnitine palmitoyltransferase 2
  • CREBBP: CREB binding protein
  • CRTAP: cartilage associated protein
  • CSTB: cystatin B (stefin B)
  • 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
  • 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
  • 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
  • DCX: doublecortin
  • DGUOK: deoxyguanosine kinase
  • DHCR7: 7-dehydrocholesterol reductase
  • DHODH: dihydroorotate dehydrogenase (quinone)
  • DKC1: dyskeratosis congenita 1, dyskerin
  • DLAT: dihydrolipoamide S-acetyltransferase
  • DLD: dihydrolipoamide dehydrogenase
  • DMPK: dystrophia myotonica-protein kinase
  • DNM2: dynamin 2
  • DYNC1H1: dynein, cytoplasmic 1, heavy chain 1
  • EBP: emopamil binding protein (sterol isomerase)
  • ELOVL4: ELOVL fatty acid elongase 4
  • EMD: emerin
  • EP300: E1A binding protein p300
  • EPAS1: endothelial PAS domain protein 1
  • 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
  • ESPN: espin
  • ETFA: electron-transfer-flavoprotein, alpha polypeptide
  • ETFB: electron-transfer-flavoprotein, beta polypeptide
  • ETFDH: electron-transferring-flavoprotein dehydrogenase
  • ETHE1: ethylmalonic encephalopathy 1
  • EVC: Ellis van Creveld syndrome
  • EXT1: exostosin glycosyltransferase 1
  • EXT2: exostosin glycosyltransferase 2
  • F2: coagulation factor II (thrombin)
  • F5: coagulation factor V (proaccelerin, labile factor)
  • F8: coagulation factor VIII, procoagulant component
  • F9: coagulation factor IX
  • FANCA: Fanconi anemia, complementation group A
  • FANCC: Fanconi anemia, complementation group C
  • FANCG: Fanconi anemia, complementation group G
  • FECH: ferrochelatase
  • FGA: fibrinogen alpha chain
  • FGB: fibrinogen beta chain
  • FGG: fibrinogen gamma chain
  • FH: fumarate hydratase
  • FIG4: FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
  • FLNA: filamin A, alpha
  • 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
  • FOXP3: forkhead box P3
  • FUS: fused in sarcoma
  • FXN: frataxin
  • G6PC: glucose-6-phosphatase, catalytic subunit
  • G6PD: glucose-6-phosphate dehydrogenase
  • GALC: galactosylceramidase
  • GALNS: galactosamine (N-acetyl)-6-sulfate sulfatase
  • GALNT3: UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
  • 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
  • GCDH: glutaryl-CoA dehydrogenase
  • GCH1: GTP cyclohydrolase 1
  • GDAP1: ganglioside induced differentiation associated protein 1
  • GHRHR: growth hormone releasing hormone receptor
  • GJA1: gap junction protein, alpha 1, 43kDa
  • GJB1: gap junction protein, beta 1, 32kDa
  • GLA: galactosidase, alpha
  • GLB1: galactosidase, beta 1
  • GLI3: GLI family zinc finger 3
  • GM2A: GM2 ganglioside activator
  • GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
  • GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
  • GNPAT: glyceronephosphate O-acyltransferase
  • GNS: glucosamine (N-acetyl)-6-sulfatase
  • GPC3: glypican 3
  • GPR143: G protein-coupled receptor 143
  • GRHPR: glyoxylate reductase/hydroxypyruvate reductase
  • GUCY2D: guanylate cyclase 2D, membrane (retina-specific)
  • GUSB: glucuronidase, beta
  • 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
  • HAX1: HCLS1 associated protein X-1
  • HBA2: hemoglobin, alpha 2
  • HBB: hemoglobin, beta
  • HEXA: hexosaminidase A (alpha polypeptide)
  • HEXB: hexosaminidase B (beta polypeptide)
  • 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)
  • HMGCL: 3-hydroxymethyl-3-methylglutaryl-CoA lyase
  • HSD17B10: hydroxysteroid (17-beta) dehydrogenase 10
  • HSD17B3: hydroxysteroid (17-beta) dehydrogenase 3
  • HSD3B2: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
  • HTT: huntingtin
  • IDS: iduronate 2-sulfatase
  • IDUA: iduronidase, alpha-L-
  • IFT140: intraflagellar transport 140 homolog (Chlamydomonas)
  • IGF2: insulin-like growth factor 2 (somatomedin A)
  • IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
  • INS: insulin
  • IRAK4: interleukin-1 receptor-associated kinase 4
  • ISCU: iron-sulfur cluster scaffold homolog (E. coli)
  • ITM2B: integral membrane protein 2B
  • IVD: isovaleryl-CoA dehydrogenase
  • JAK2: Janus kinase 2
  • JPH3: junctophilin 3
  • KANSL1: KAT8 regulatory NSL complex subunit 1
  • KAT6B: K(lysine) acetyltransferase 6B
  • KIF1B: kinesin family member 1B
  • KMT2D: myeloid/lymphoid or mixed-lineage leukemia 2
  • KRIT1: KRIT1, ankyrin repeat containing
  • KRT1: keratin 1
  • KRT10: keratin 10
  • KRT14: keratin 14
  • KRT16: keratin 16
  • KRT3: keratin 3
  • KRT5: keratin 5
  • KRT6A: keratin 6A
  • KRT6C: keratin 6C
  • KRT86: keratin 86
  • L2HGDH: L-2-hydroxyglutarate dehydrogenase
  • LAMP2: lysosomal-associated membrane protein 2
  • LBR: lamin B receptor
  • 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
  • LITAF: lipopolysaccharide-induced TNF factor
  • LMNA: lamin A/C
  • LPIN2: lipin 2
  • LRRK2: leucine-rich repeat kinase 2
  • MAP2K2: mitogen-activated protein kinase kinase 2
  • MAPT: microtubule-associated protein tau
  • MATR3: matrin 3
  • MCCC1: methylcrotonoyl-CoA carboxylase 1 (alpha)
  • MCCC2: methylcrotonoyl-CoA carboxylase 2 (beta)
  • MCEE: methylmalonyl CoA epimerase
  • MCM6: minichromosome maintenance complex component 6
  • MCOLN1: mucolipin 1
  • MECP2: methyl CpG binding protein 2 (Rett syndrome)
  • MED12: mediator complex subunit 12
  • MEFV: Mediterranean fever
  • MEN1: multiple endocrine neoplasia I
  • MFN2: mitofusin 2
  • MID1: midline 1 (Opitz/BBB syndrome)
  • MKKS: McKusick-Kaufman syndrome
  • MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
  • MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
  • MPLKIP: M-phase specific PLK1 interacting protein
  • MPV17: MpV17 mitochondrial inner membrane protein
  • MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
  • MSH6: mutS homolog 6 (E. coli)
  • MT-ATP6: mitochondrially encoded ATP synthase 6
  • 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
  • MTTP: microsomal triglyceride transfer protein
  • MUT: methylmalonyl CoA mutase
  • MUTYH: mutY homolog (E. coli)
  • MYBPC3: myosin binding protein C, cardiac
  • MYCN: v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
  • MYH7: myosin, heavy chain 7, cardiac muscle, beta
  • MYH9: myosin, heavy chain 9, non-muscle
  • MYO1A: myosin IA
  • MYO6: myosin VI
  • MYO7A: myosin VIIA
  • NAGLU: N-acetylglucosaminidase, alpha
  • NAGS: N-acetylglutamate synthase
  • NBN: nibrin
  • NCF2: neutrophil cytosolic factor 2
  • NDRG1: N-myc downstream regulated 1
  • NEFH: neurofilament, heavy polypeptide
  • NEFL: neurofilament, light polypeptide
  • NEU1: sialidase 1 (lysosomal sialidase)
  • NF2: neurofibromin 2 (merlin)
  • NGF: nerve growth factor (beta polypeptide)
  • NIPBL: Nipped-B homolog (Drosophila)
  • NOD2: nucleotide-binding oligomerization domain containing 2
  • NOTCH2: notch 2
  • NOTCH3: notch 3
  • NPC1: Niemann-Pick disease, type C1
  • 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
  • NSDHL: NAD(P) dependent steroid dehydrogenase-like
  • OAT: ornithine aminotransferase
  • OCA2: oculocutaneous albinism II
  • 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
  • OTC: ornithine carbamoyltransferase
  • OTOF: otoferlin
  • OXCT1: 3-oxoacid CoA transferase 1
  • PABPN1: poly(A) binding protein, nuclear 1
  • PAFAH1B1: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
  • PALB2: partner and localizer of BRCA2
  • PANK2: pantothenate kinase 2
  • PAX2: paired box 2
  • PAX6: paired box 6
  • PAX8: paired box 8
  • PC: pyruvate carboxylase
  • PCCA: propionyl CoA carboxylase, alpha polypeptide
  • PCCB: propionyl CoA carboxylase, beta polypeptide
  • PCNT: pericentrin
  • PDGFB: platelet-derived growth factor 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
  • PEX1: peroxisomal biogenesis factor 1
  • PEX7: peroxisomal biogenesis factor 7
  • PHOX2A: paired-like homeobox 2a
  • PHOX2B: paired-like homeobox 2b
  • PHYH: phytanoyl-CoA 2-hydroxylase
  • PIGA: phosphatidylinositol glycan anchor biosynthesis, class A
  • PITX2: paired-like homeodomain 2
  • 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)
  • PLG: plasminogen
  • PLOD1: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
  • PML: promyelocytic leukemia
  • PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
  • PNPLA2: patatin-like phospholipase domain containing 2
  • POLG: polymerase (DNA directed), gamma
  • POLH: polymerase (DNA directed), eta
  • POLR1C: polymerase (RNA) I polypeptide C, 30kDa
  • POLR1D: polymerase (RNA) I polypeptide D, 16kDa
  • PPOX: protoporphyrinogen oxidase
  • PPP1R12A: protein phosphatase 1, regulatory subunit 12A
  • PRICKLE1: prickle homolog 1 (Drosophila)
  • PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
  • PRNP: prion protein
  • PROC: protein C (inactivator of coagulation factors Va and VIIIa)
  • PRODH: proline dehydrogenase (oxidase) 1
  • PROS1: protein S (alpha)
  • PRPH: peripherin
  • PSAP: prosaposin
  • PSEN1: presenilin 1
  • PSEN2: presenilin 2 (Alzheimer disease 4)
  • 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
  • RARA: retinoic acid receptor, alpha
  • RARS2: arginyl-tRNA synthetase 2, mitochondrial
  • RB1: retinoblastoma 1
  • RBM8A: RNA binding motif protein 8A
  • RET: ret proto-oncogene
  • RHO: rhodopsin
  • 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)
  • SALL1: sal-like 1 (Drosophila)
  • SAR1B: SAR1 homolog B (S. cerevisiae)
  • SBDS: Shwachman-Bodian-Diamond syndrome
  • 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
  • SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
  • SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
  • SETX: senataxin
  • SGSH: N-sulfoglucosamine sulfohydrolase
  • SHANK3: SH3 and multiple ankyrin repeat domains 3
  • SIX1: SIX homeobox 1
  • SKI: v-ski sarcoma viral oncogene homolog (avian)
  • SLC17A5: solute carrier family 17 (anion/sugar transporter), member 5
  • SLC25A13: solute carrier family 25 (aspartate/glutamate carrier), member 13
  • SLC25A15: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
  • SLC25A19: solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
  • SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
  • SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
  • SLC37A4: solute carrier family 37 (glucose-6-phosphate transporter), member 4
  • 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
  • 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
  • SNAI2: snail homolog 2 (Drosophila)
  • SNCA: synuclein, alpha (non A4 component of amyloid precursor)
  • SNCAIP: synuclein, alpha interacting protein
  • SOD1: superoxide dismutase 1, soluble
  • SOX2: SRY (sex determining region Y)-box 2
  • SP110: SP110 nuclear body protein
  • SPG11: spastic paraplegia 11 (autosomal recessive)
  • SPG20: spastic paraplegia 20 (Troyer syndrome)
  • SPTLC1: serine palmitoyltransferase, long chain base subunit 1
  • SQSTM1: sequestosome 1
  • 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)
  • STRC: stereocilin
  • SUCLA2: succinate-CoA ligase, ADP-forming, beta subunit
  • SUCLG1: succinate-CoA ligase, alpha subunit
  • SURF1: surfeit 1
  • 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
  • TBP: TATA box binding protein
  • TBX5: T-box 5
  • TCF4: transcription factor 4
  • TCIRG1: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
  • TCOF1: Treacher Collins-Franceschetti syndrome 1
  • TEK: TEK tyrosine kinase, endothelial
  • TERT: telomerase reverse transcriptase
  • TFAP2A: transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
  • TGFB1: transforming growth factor, beta 1
  • TGIF1: TGFB-induced factor homeobox 1
  • TH: tyrosine hydroxylase
  • TIMM8A: translocase of inner mitochondrial membrane 8 homolog A (yeast)
  • TINF2: TERF1 (TRF1)-interacting nuclear factor 2
  • TMPRSS3: transmembrane protease, serine 3
  • 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
  • TPM2: tropomyosin 2 (beta)
  • TPM3: tropomyosin 3
  • TREX1: three prime repair exonuclease 1
  • TRPV4: transient receptor potential cation channel, subfamily V, member 4
  • TSC1: tuberous sclerosis 1
  • TSEN2: tRNA splicing endonuclease 2 homolog (S. cerevisiae)
  • TTN: titin
  • TYR: tyrosinase
  • TYRP1: tyrosinase-related protein 1
  • UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
  • UMOD: uromodulin
  • 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
  • VRK1: vaccinia related kinase 1
  • VWF: von Willebrand factor
  • WFS1: Wolfram syndrome 1 (wolframin)
  • WHSC1: Wolf-Hirschhorn syndrome candidate 1
  • WRN: Werner syndrome, RecQ helicase-like
  • WT1: Wilms tumor 1
  • XPA: xeroderma pigmentosum, complementation group A
  • XPC: xeroderma pigmentosum, complementation group C
  • YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
  • ZEB2: zinc finger E-box binding homeobox 2

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

 
Published: May 20, 2013