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Browse Genes by Symbol - All
A | B | C | D-E | F | G | H-K | L | M | N-O | P | Q-S | T-V | W-Z || All
- ABCC6:ATP-binding cassette, sub-family C (CFTR/MRP), member 6
- ADAMTS2:a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
- AGXT:alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)
- ALAD:aminolevulinate, delta-, dehydratase
- ALAS1:aminolevulinate, delta-, synthase 1
- ALAS2:aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)
- ALMS1:Alstrom syndrome 1
- ALS2:amyotrophic lateral sclerosis 2 (juvenile)
- APOE:apolipoprotein E
- APP:amyloid beta (A4) precursor protein (protease nexin-II, Alzheimer disease)
- AR:androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
- ARHI:ras homolog gene family, member I
- ASPA:aspartoacylase (aminoacylase 2, Canavan disease)
- ATM:ataxia telangiectasia mutated (includes complementation groups A, C and D)
- ATP7A:ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)
- ATP7B:ATPase, Cu++ transporting, beta polypeptide (Wilson disease)
- BMPR2:bone morphogenetic protein receptor, type II (serine/threonine kinase)
- BRCA1:breast cancer 1, early onset
- BRCA2:breast cancer 2, early onset
- BTD:biotinidase
- CBS:cystathionine-beta-synthase
- CDH23:cadherin related 23
- CFTR:cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
- CHEK2:CHK2 checkpoint homolog (S. pombe)
- CKN1:Cockayne syndrome 1 (classical)
- CLDN14:claudin 14
- CMT4B2:Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)
- COCH:coagulation factor C homolog, cochlin (Limulus polyphemus)
- COL11A1:collagen, type XI, alpha 1
- COL11A2:collagen, type XI, alpha 2
- COL1A1:collagen, type I, alpha 1
- COL1A2:collagen, type I, alpha 2
- COL2A1:collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
- COL3A1:collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
- COL5A1:collagen, type V, alpha 1
- COL5A2:collagen, type V, alpha 2
- CPOX:coproporphyrinogen oxidase (coproporphyria, harderoporphyria)
- CYP21A2:cytochrome P450, family 21, subfamily A, polypeptide 2
- DMD:dystrophin (muscular dystrophy, Duchenne and Becker types)
- DMPK:dystrophia myotonica-protein kinase
- EGR2:early growth response 2 (Krox-20 homolog, Drosophila)
- ERBB2:v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
- ERCC6:excision repair cross-complementing rodent repair deficiency, complementation group 6
- EYA4:eyes absent homolog 4 (Drosophila)
- F5:coagulation factor V (proaccelerin, labile factor)
- F8:coagulation factor VIII, procoagulant component (hemophilia A)
- F9:coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)
- FBN1:fibrillin 1 (Marfan syndrome)
- FECH:ferrochelatase (protoporphyria)
- FGFR1:fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
- FGFR2:fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)
- FGFR3:fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
- FGFR4:fibroblast growth factor receptor 4
- FGFRL1:fibroblast growth factor receptor-like 1
- FMR1:fragile X mental retardation 1
- FRDA:Friedreich ataxia
- GALC:galactosylceramidase (Krabbe disease)
- GALE:galactose-4-epimerase, UDP-
- GALK1:galactokinase 1
- GALT:galactose-1-phosphate uridylyltransferase
- GARS:glycyl-tRNA synthetase
- GBA:glucosidase, beta; acid (includes glucosylceramidase)
- GCH1:GTP cyclohydrolase 1 (dopa-responsive dystonia)
- GDAP1:ganglioside-induced differentiation-associated protein 1
- GFAP:glial fibrillary acidic protein
- GJB1:gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)
- GJB2:gap junction protein, beta 2, 26kDa (connexin 26)
- GJB3:gap junction protein, beta 3, 31kDa (connexin 31)
- GJB6:gap junction protein, beta 6 (connexin 30)
- GLA:galactosidase, alpha
- GRHPR:glyoxylate reductase/hydroxypyruvate reductase
- HAMP:hepcidin antimicrobial peptide
- HBB:hemoglobin, beta
- HD:huntingtin (Huntington disease)
- HEXA:hexosaminidase A (alpha polypeptide)
- HFE:hemochromatosis
- HFE2:hemochromatosis type 2 (juvenile)
- HGD:homogentisate 1,2-dioxygenase (homogentisate oxidase)
- HMBS:hydroxymethylbilane synthase
- HPRT1:hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)
- HRAS:v-Ha-ras Harvey rat sarcoma viral oncogene homolog
- 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
- IL2RG:interleukin 2 receptor, gamma (severe combined immunodeficiency)
- KCNQ4:potassium voltage-gated channel, KQT-like subfamily, member 4
- KIAA0625:senataxin
- KIF1B:kinesin family member 1B
- LITAF:lipopolysaccharide-induced TNF factor
- LMNA:lamin A/C
- LPL:lipoprotein lipase
- MASS1:monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
- MECP2:methyl CpG binding protein 2 (Rett syndrome)
- MEFV:Mediterranean fever
- MMAA:methylmalonic aciduria (cobalamin deficiency) type A
- MMAB:methylmalonic aciduria (cobalamin deficiency) type B
- MPZ:myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
- MTHFR:5,10-methylenetetrahydrofolate reductase (NADPH)
- MTMR2:myotubularin related protein 2
- MTR:5-methyltetrahydrofolate-homocysteine methyltransferase
- MTRR:5-methyltetrahydrofolate-homocysteine methyltransferase reductase
- MUT:methylmalonyl Coenzyme A mutase
- MYO15A:myosin XVA
- MYO1A:myosin IA
- MYO6:myosin VI
- MYO7A:myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))
- NDRG1:N-myc downstream regulated gene 1
- NEF3:neurofilament 3 (150kDa medium)
- NEFH:neurofilament, heavy polypeptide 200kDa
- NEFL:neurofilament, light polypeptide 68kDa
- NF1:neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
- NF2:neurofibromin 2 (bilateral acoustic neuroma)
- NOTCH3:Notch homolog 3 (Drosophila)
- OCA2:oculocutaneous albinism II (pink-eye dilution homolog, mouse)
- OTOF:otoferlin
- PAH:phenylalanine hydroxylase
- PANK2:pantothenate kinase 2 (Hallervorden-Spatz syndrome)
- PCBD:6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
- PCCA:propionyl Coenzyme A carboxylase, alpha polypeptide
- PCCB:propionyl Coenzyme A carboxylase, beta polypeptide
- PCDH15:protocadherin 15
- PLOD:procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)
- PMP22:peripheral myelin protein 22
- POU3F4:POU domain, class 3, transcription factor 4
- PPOX:protoporphyrinogen oxidase
- PPP1R12A:protein phosphatase 1, regulatory (inhibitor) subunit 12A
- PRNP:prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)
- PRX:periaxin
- PSEN1:presenilin 1 (Alzheimer disease 3)
- PSEN2:presenilin 2 (Alzheimer disease 4)
- PTEN:phosphatase and tensin homolog (mutated in multiple advanced cancers 1)
- PTPN11:protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)
- PTS:6-pyruvoyltetrahydropterin synthase
- QDPR:quinoid dihydropteridine reductase
- RAB7:RAB7, member RAS oncogene family
- RAD51:RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)
- RB1:Retinoblastoma 1 (including osteosarcoma)
- RPS6KA3:ribosomal protein S6 kinase, 90kDa, polypeptide 3
- SAA1:serum amyloid A1
- SERPINA1:serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
- SHOX:short stature homeobox
- SLC26A4:solute carrier family 26, member 4
- SLC40A1:solute carrier family 40 (iron-regulated transporter), member 1
- SMN1:survival of motor neuron 1, telomeric
- SMN2:survival of motor neuron 2, centromeric
- SOD1:superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))
- STK11:serine/threonine kinase 11 (Peutz-Jeghers syndrome)
- STRC:stereocilin
- TECTA:tectorin alpha
- TFR2:transferrin receptor 2
- TMC1:transmembrane channel-like 1
- TMIE:transmembrane inner ear protein
- TMPRSS3:transmembrane protease, serine 3
- TNXB:tenascin XB
- TP53:tumor protein p53 (Li-Fraumeni syndrome)
- TSC1:tuberous sclerosis 1
- TSC2:tuberous sclerosis 2
- UBE3A:ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)
- UROD:uroporphyrinogen decarboxylase
- UROS:uroporphyrinogen III synthase (congenital erythropoietic porphyria)
- USH1C:Usher syndrome 1C (autosomal recessive, severe)
- USH1G:Usher syndrome 1G (autosomal recessive)
- USH2A:Usher syndrome 2A (autosomal recessive, mild)
- USH3A:Usher syndrome 3A
- WFS1:Wolfram syndrome 1 (wolframin)
- ZNF9:zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)
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