Cytoplasm

Cytoplasm

• AAAS: achalasia, adrenocortical insufficiency, alacrimia
• AASS: aminoadipate-semialdehyde synthase
• ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
• 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
• 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
• ACAT1: acetyl-CoA acetyltransferase 1
• ACTA1: actin, alpha 1, skeletal muscle
• ACTA2: actin, alpha 2, smooth muscle, aorta
• ACTG1: actin, gamma 1
• ADA: adenosine deaminase
• AGA: aspartylglucosaminidase
• AGL: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
• AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
• AGPS: alkylglycerone phosphate synthase
• AGXT: alanine-glyoxylate aminotransferase
• AHCY: adenosylhomocysteinase
• AIRE: autoimmune regulator
• ALAD: aminolevulinate dehydratase
• 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)
• AMPD1: adenosine monophosphate deaminase 1
• ANK1: ankyrin 1, erythrocytic
• ANK2: ankyrin 2, neuronal
• APC: adenomatous polyposis coli
• APOB: apolipoprotein B (including Ag(x) antigen)
• 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)
• ARG1: arginase, liver
• ARMS2: age-related maculopathy susceptibility 2
• ARSA: arylsulfatase A
• ASAH1: N-acylsphingosine amidohydrolase (acid ceramidase) 1
• ASL: argininosuccinate lyase
• ASPA: aspartoacylase
• ASS1: argininosuccinate synthase 1
• ATG16L1: ATG16 autophagy related 16-like 1 (S. cerevisiae)
• ATL1: atlastin GTPase 1
• 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
• 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
• BEST1: bestrophin 1
• BIN1: bridging integrator 1
• BLM: Bloom syndrome, RecQ helicase-like
• 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)
• BTK: Bruton agammaglobulinemia tyrosine kinase
• C10orf2: chromosome 10 open reading frame 2
• 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)
• CAV3: caveolin 3
• CBS: cystathionine-beta-synthase
• CCM2: cerebral cavernous malformation 2
• CDH1: cadherin 1, type 1, E-cadherin (epithelial)
• CDKL5: cyclin-dependent kinase-like 5
• CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
• CEP290: centrosomal protein 290kDa
• CFTR: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
• CHAT: choline O-acetyltransferase
• CHMP2B: charged multivesicular body protein 2B
• CHN1: chimerin (chimaerin) 1
• CISD2: CDGSH iron sulfur domain 2
• CLDN14: claudin 14
• CLN3: ceroid-lipofuscinosis, neuronal 3
• 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
• CSTB: cystatin B (stefin B)
• CTNND2: catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
• CTNS: cystinosin, lysosomal cystine transporter
• CTSA: cathepsin A
• CUL7: cullin 7
• 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
• DCTN1: dynactin 1
• DCX: doublecortin
• DDC: dopa decarboxylase (aromatic L-amino acid decarboxylase)
• DES: desmin
• DFNB31: deafness, autosomal recessive 31
• DGUOK: deoxyguanosine kinase
• DHCR7: 7-dehydrocholesterol reductase
• DHODH: dihydroorotate dehydrogenase (quinone)
• DLD: dihydrolipoamide dehydrogenase
• DMD: dystrophin
• DMPK: dystrophia myotonica-protein kinase
• DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
• DNM2: dynamin 2
• DPYD: dihydropyrimidine dehydrogenase
• EBP: emopamil binding protein (sterol isomerase)
• EGR2: early growth response 2
• 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
• EMD: emerin
• ENG: endoglin
• EP300: E1A binding protein p300
• EPM2A: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
• 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
• 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 1
• EXT2: exostosin 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
• F9: coagulation factor IX
• FAH: fumarylacetoacetate hydrolase (fumarylacetoacetase)
• FANCC: Fanconi anemia, complementation group C
• FANCG: Fanconi anemia, complementation group G
• FAS: Fas (TNF receptor superfamily, member 6)
• FBLN5: fibulin 5
• 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
• FGFR2: fibroblast growth factor receptor 2
• FGFR4: fibroblast growth factor receptor 4
• FGG: fibrinogen gamma chain
• FH: fumarate hydratase
• FIG4: FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
• FKTN: fukutin
• FLCN: folliculin
• FLNA: filamin A, alpha
• FLNB: filamin B, beta
• FMO3: flavin containing monooxygenase 3
• FMR1: fragile X mental retardation 1
• FOXP3: forkhead box P3
• FTCD: formiminotransferase cyclodeaminase
• FTL: ferritin, light polypeptide
• FUCA1: fucosidase, alpha-L- 1, tissue
• FXN: frataxin
• FZD4: frizzled family receptor 4
• G6PC: glucose-6-phosphatase, catalytic subunit
• G6PD: glucose-6-phosphate dehydrogenase
• GAA: glucosidase, alpha; acid
• GALC: galactosylceramidase
• GALE: UDP-galactose-4-epimerase
• GALK1: galactokinase 1
• GALT: galactose-1-phosphate uridylyltransferase
• GAMT: guanidinoacetate N-methyltransferase
• GARS: glycyl-tRNA synthetase
• 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
• GFAP: glial fibrillary acidic protein
• 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
• GLA: galactosidase, alpha
• GLB1: galactosidase, beta 1
• GLI3: GLI family zinc finger 3
• GM2A: GM2 ganglioside activator
• GNAS: GNAS complex locus
• GNE: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
• GNMT: glycine N-methyltransferase
• GNPAT: glyceronephosphate O-acyltransferase
• GPR143: G protein-coupled receptor 143
• GPR98: G protein-coupled receptor 98
• GRHPR: glyoxylate reductase/hydroxypyruvate reductase
• GSN: gelsolin
• GSS: glutathione synthetase
• GTF2IRD1: GTF2I repeat domain containing 1
• 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
• HCCS: holocytochrome c synthase
• HEXA: hexosaminidase A (alpha polypeptide)
• HEXB: hexosaminidase B (beta polypeptide)
• HFE: hemochromatosis
• HGD: homogentisate 1,2-dioxygenase
• HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase
• HLA-B: major histocompatibility complex, class I, B
• 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
• HPS1: Hermansky-Pudlak syndrome 1
• HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
• 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
• HSPB1: heat shock 27kDa protein 1
• HSPB8: heat shock 22kDa protein 8
• HTT: huntingtin
• 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
• INS: insulin
• IRAK4: interleukin-1 receptor-associated kinase 4
• IRF5: interferon regulatory factor 5
• IRF6: interferon regulatory factor 6
• ISCU: iron-sulfur cluster scaffold homolog (E. coli)
• ITM2B: integral membrane protein 2B
• IVD: isovaleryl-CoA dehydrogenase
• JAK2: Janus kinase 2
• JPH3: junctophilin 3
• KCNE1: potassium voltage-gated channel, Isk-related family, member 1
• KCNE2: potassium voltage-gated channel, Isk-related family, member 2
• KIAA0196: KIAA0196
• KIF1B: kinesin family member 1B
• KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
• KRT10: keratin 10
• KRT14: keratin 14
• KRT17: keratin 17
• KRT5: keratin 5
• L2HGDH: L-2-hydroxyglutarate dehydrogenase
• LAMP2: lysosomal-associated membrane protein 2
• LDHA: lactate dehydrogenase A
• LDHB: lactate dehydrogenase B
• LDLR: low density lipoprotein receptor
• LDLRAP1: low density lipoprotein receptor adaptor protein 1
• LETM1: leucine zipper-EF-hand containing transmembrane protein 1
• LIMK1: LIM domain kinase 1
• LITAF: lipopolysaccharide-induced TNF factor
• LMNA: lamin A/C
• LPIN2: lipin 2
• LRP2: low density lipoprotein receptor-related protein 2
• LRRK2: leucine-rich repeat kinase 2
• MAP2K1: mitogen-activated protein kinase kinase 1
• MAP2K2: mitogen-activated protein kinase kinase 2
• MAPT: microtubule-associated protein tau
• MAT1A: methionine adenosyltransferase I, alpha
• MCCC1: methylcrotonoyl-CoA carboxylase 1 (alpha)
• MCCC2: methylcrotonoyl-CoA carboxylase 2 (beta)
• MCEE: methylmalonyl CoA epimerase
• MCOLN1: mucolipin 1
• MEFV: Mediterranean fever
• MEN1: multiple endocrine neoplasia I
• MFN2: mitofusin 2
• MID1: midline 1 (Opitz/BBB syndrome)
• MKKS: McKusick-Kaufman syndrome
• MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
• MLYCD: malonyl-CoA decarboxylase
• MMAB: methylmalonic aciduria (cobalamin deficiency) cblB type
• MSX2: msh homeobox 2
• MT-ATP6: mitochondrially encoded ATP synthase 6
• 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
• MTTP: microsomal triglyceride transfer protein
• MUT: methylmalonyl CoA mutase
• MVK: mevalonate kinase
• MYBPC1: myosin binding protein C, slow type
• 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
• NAGA: N-acetylgalactosaminidase, alpha-
• NAGS: N-acetylglutamate synthase
• NCF1: neutrophil cytosolic factor 1
• NDRG1: N-myc downstream regulated 1
• NEB: nebulin
• NEFL: neurofilament, light polypeptide
• NEU1: sialidase 1 (lysosomal sialidase)
• NF1: neurofibromin 1
• NF2: neurofibromin 2 (merlin)
• NGF: nerve growth factor (beta polypeptide)
• 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
• 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
• NSDHL: NAD(P) dependent steroid dehydrogenase-like
• NTRK1: neurotrophic tyrosine kinase, receptor, type 1
• OAT: ornithine aminotransferase
• OCA2: oculocutaneous albinism II
• OCRL: oculocerebrorenal syndrome of Lowe
• OFD1: oral-facial-digital syndrome 1
• OPA1: optic atrophy 1 (autosomal dominant)
• OPA3: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
• 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)
• PAH: phenylalanine hydroxylase
• PANK2: pantothenate kinase 2
• PARK2: parkinson protein 2, E3 ubiquitin protein ligase (parkin)
• PARK7: parkinson protein 7
• PAX2: paired box 2
• PAX6: paired box 6
• 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
• 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
• PEX1: peroxisomal biogenesis factor 1
• PEX7: peroxisomal biogenesis factor 7
• PGAM2: phosphoglycerate mutase 2 (muscle)
• PGK1: phosphoglycerate kinase 1
• PHYH: phytanoyl-CoA 2-hydroxylase
• PIGA: phosphatidylinositol glycan anchor biosynthesis, class A
• PINK1: PTEN induced putative kinase 1
• 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)
• PLEC: plectin
• PML: promyelocytic leukemia
• PMM2: phosphomannomutase 2
• PNKD: paroxysmal nonkinesigenic dyskinesia
• PNP: purine nucleoside phosphorylase
• PNPO: pyridoxamine 5'-phosphate oxidase
• POLG: polymerase (DNA directed), gamma
• POLH: polymerase (DNA directed), eta
• POR: P450 (cytochrome) oxidoreductase
• PPOX: protoporphyrinogen oxidase
• 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 (tissue specific extinguisher 1)
• PRNP: prion protein
• PROC: protein C (inactivator of coagulation factors Va and VIIIa)
• PRODH: proline dehydrogenase (oxidase) 1
• PROS1: protein S (alpha)
• PRPS1: phosphoribosyl pyrophosphate synthetase 1
• 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)
• PTS: 6-pyruvoyltetrahydropterin synthase
• PYGL: phosphorylase, glycogen, liver
• PYGM: phosphorylase, glycogen, muscle
• QDPR: quinoid dihydropteridine reductase
• RAB7A: RAB7A, member RAS oncogene family
• 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
• RARS2: arginyl-tRNA synthetase 2, mitochondrial
• RASA1: RAS p21 protein activator (GTPase activating protein) 1
• RET: ret proto-oncogene
• RHO: rhodopsin
• RP2: retinitis pigmentosa 2 (X-linked recessive)
• 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
• RYR1: ryanodine receptor 1 (skeletal)
• RYR2: ryanodine receptor 2 (cardiac)
• SACS: spastic ataxia of Charlevoix-Saguenay (sacsin)
• 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
• SH2D1A: SH2 domain containing 1A
• SI: sucrase-isomaltase (alpha-glucosidase)
• SIL1: SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
• SIX5: SIX homeobox 5
• 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
• SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
• SLC46A1: solute carrier family 46 (folate transporter), member 1
• SLC9A6: solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
• SMAD3: SMAD family member 3
• SMAD4: SMAD family member 4
• 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
• 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)
• SOX2: SRY (sex determining region Y)-box 2
• SPAST: spastin
• SPG11: spastic paraplegia 11 (autosomal recessive)
• SPG20: spastic paraplegia 20 (Troyer syndrome)
• SPG7: spastic paraplegia 7 (pure and complicated autosomal recessive)
• 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
• 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)
• STK11: serine/threonine kinase 11
• SUCLA2: succinate-CoA ligase, ADP-forming, beta subunit
• SUCLG1: succinate-CoA ligase, alpha subunit
• SURF1: surfeit 1
• SYNE1: spectrin repeat containing, nuclear envelope 1
• TAT: tyrosine aminotransferase
• TAZ: tafazzin
• TBX5: T-box 5
• TCIRG1: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
• TCOF1: Treacher Collins-Franceschetti syndrome 1
• TGFB1: transforming growth factor, beta 1
• TH: tyrosine hydroxylase
• TIMM8A: translocase of inner mitochondrial membrane 8 homolog A (yeast)
• TMEM127: transmembrane protein 127
• TMPRSS3: transmembrane protease, serine 3
• TNNI3: troponin I type 3 (cardiac)
• 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
• TRIOBP: TRIO and F-actin binding protein
• TRPV4: transient receptor potential cation channel, subfamily V, member 4
• TSC1: tuberous sclerosis 1
• TSC2: tuberous sclerosis 2
• TSEN2: tRNA splicing endonuclease 2 homolog (S. cerevisiae)
• TTN: titin
• TYMP: thymidine phosphorylase
• TYR: tyrosinase (oculocutaneous albinism IA)
• TYRP1: tyrosinase-related protein 1
• UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
• UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
• UNC13D: unc-13 homolog D (C. elegans)
• UROD: uroporphyrinogen decarboxylase
• UROS: uroporphyrinogen III synthase
• USH1C: Usher syndrome 1C (autosomal recessive, severe)
• USH2A: Usher syndrome 2A (autosomal recessive, mild)
• USP9Y: ubiquitin specific peptidase 9, Y-linked
• VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
• VCP: valosin containing protein
• VHL: von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
• VRK1: vaccinia related kinase 1
• VWF: von Willebrand factor
• WAS: Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
• WFS1: Wolfram syndrome 1 (wolframin)
• WNK1: WNK lysine deficient protein kinase 1
• 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
• 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
• ZEB2: zinc finger E-box binding homeobox 2
• ZIC2: Zic family member 2

Source: Gene Ontology Consortium.