Gene Symbols & Full Names

ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12
ABCC6: ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
ACADVL: acyl-coenzyme A dehydrogenase, very long chain
ACAT1: acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)
ACTG1: actin, gamma 1
ACVRL1: activin A receptor type II-like 1
ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAMTS2: ADAM metallopeptidase 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 anaemia)
ALMS1: Alstrom syndrome 1
ALS2: amyotrophic lateral sclerosis 2 (juvenile)
AMELX: amelogenin (amelogenesis imperfecta 1, X-linked)
ANK2: ankyrin 2, neuroneal
APC: adenomatosis polyposis coli
APOE: apolipoprotein E
APP: amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)
AR: androgen receptor (dihydrotestosterone receptor; testicular feminisation; spinal and bulbar muscular atrophy; Kennedy disease)
ASL: argininosuccinate lyase
ASPA: aspartoacylase (Canavan disease)
ASS: argininosuccinate synthetase
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
AUH: AU RNA binding protein/enoyl-Coenzyme A hydratase
BCKDHA: branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB: branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)
BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRCA1: breast cancer 1, early onset
BRCA2: breast cancer 2, early onset
BSCL2: Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
BTD: biotinidase
CARD15: caspase recruitment domain family, member 15
CBS: cystathionine-beta-synthase
CCM2: cerebral cavernous malformation 2
CDH23: cadherin-like 23
CDKL5: cyclin-dependent kinase-like 5
CFTR: cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
CHEK2: CHK2 checkpoint homolog (S. pombe)
CLDN14: claudin 14
CNGA3: cyclic nucleotide gated channel alpha 3
CNGB3: cyclic nucleotide gated channel beta 3
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)
COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4: collagen, type IV, alpha 4
COL4A5: collagen, type IV, alpha 5 (Alport syndrome)
COL5A1: collagen, type V, alpha 1
COL5A2: collagen, type V, alpha 2
CPOX: coproporphyrinogen oxidase
CPT1A: carnitine palmitoyltransferase 1A (liver)
CPT2: carnitine palmitoyltransferase II
CREBBP: CREB binding protein (Rubinstein-Taybi syndrome)
CTNS: cystinosis, nephropathic
CYLN2: cytoplasmic linker 2
CYP1B1: cytochrome P450, family 1, subfamily B, polypeptide 1
CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2
DBT: dihydrolipoamide branched chain transacylase E2
DFNA5: deafness, autosomal dominant 5
DHCR7: 7-dehydrocholesterol reductase
DIRAS3: DIRAS family, GTP-binding RAS-like 3
DLD: dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)
DMD: dystrophin (muscular dystrophy, Duchenne and Becker types)
DMPK: dystrophia myotonica-protein kinase
DNM2: dynamin 2
DSPP: dentin sialophosphoprotein
EDN3: endothelin 3
EDNRB: endothelin receptor type B
EGR2: early growth response 2 (Krox-20 homolog, Drosophila)
ELN: elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)
ENAM: enamelin
ENG: endoglin (Osler-Rendu-Weber syndrome 1)
EP300: E1A binding protein p300
ERBB2: v-erb-b2 erythroblastic leukaemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
ERCC6: excision repair cross-complementing rodent repair deficiency, complementation group 6
ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
ESPN: espin
ETFA: electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)
ETFB: electron-transfer-flavoprotein, beta polypeptide
ETFDH: electron-transferring-flavoprotein dehydrogenase
EVC: Ellis van Creveld syndrome
EVC2: Ellis van Creveld syndrome 2 (limbin)
EYA4: eyes absent homolog 4 (Drosophila)
F5: coagulation factor V (proaccelerin, labile factor)
F8: coagulation factor VIII, procoagulant component (haemophilia A)
F9: coagulation factor IX (plasma thromboplastic component, Christmas disease, haemophilia B)
FAH: fumarylacetoacetate hydrolase (fumarylacetoacetase)
FBN1: fibrillin 1
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
FLCN: folliculin
FMO3: flavin containing monooxygenase 3
FMR1: fragile X mental retardation 1
FXN: frataxin
G6PD: glucose-6-phosphate dehydrogenase
GALC: galactosylceramidase
GALE: UDP-galactose-4-epimerase
GALK1: galactokinase 1
GALT: galactose-1-phosphate uridylyltransferase
GAN: giant axonal neuropathy (gigaxonin)
GARS: glycyl-tRNA synthetase
GBA: glucosidase, beta; acid (includes glucosylceramidase)
GCDH: glutaryl-Coenzyme A dehydrogenase
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
GLI3: GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)
GM2A: GM2 ganglioside activator
GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GRHPR: glyoxylate reductase/hydroxypyruvate reductase
GTF2I: general transcription factor II, i
GTF2IRD1: GTF2I repeat domain containing 1
HADHA: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
HADHB: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
HAMP: hepcidin antimicrobial peptide
HBB: haemoglobin, beta
HD: huntingtin (Huntington disease)
HEXA: hexosaminidase A (alpha polypeptide)
HEXB: hexosaminidase B (beta polypeptide)
HFE: haemochromatosis
HFE2: haemochromatosis type 2 (juvenile)
HGD: homogentisate 1,2-dioxygenase (homogentisate oxidase)
HLA-B: major histocompatibility complex, class I, B
HLCS: holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)
HMBS: hydroxymethylbilane synthase
HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
HPD: 4-hydroxyphenylpyruvate dioxygenase
HPRT1: hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)
HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
HSPB1: heat shock 27kDa protein 1
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)
IVD: isovaleryl Coenzyme A dehydrogenase
JAG1: jagged 1 (Alagille syndrome)
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
KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2
KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1
KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4
KIF1B: kinesin family member 1B
KRIT1: KRIT1, ankyrin repeat containing
LIMK1: LIM domain kinase 1
LITAF: lipopolysaccharide-induced TNF factor
LMNA: lamin A/C
LPL: lipoprotein lipase
LRRK2: leucine-rich repeat kinase 2
MASS1: monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
MC1R: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCCC1: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
MCCC2: methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
MECP2: methyl CpG binding protein 2 (Rett syndrome)
MEFV: Mediterranean fever
MEN1: multiple endocrine neoplasia I
MFN2: mitofusin 2
MITF: microphthalmia-associated transcription factor
MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
MLYCD: malonyl-CoA decarboxylase
MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB: methylmalonic aciduria (cobalamin deficiency) cblB type
MMP20: matrix metallopeptidase 20 (enamelysin)
MPZ: myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
MSH6: mutS homolog 6 (E. coli)
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
MUTYH: mutY homolog (E. coli)
MYO15A: myosin XVA
MYO1A: myosin IA
MYO6: myosin VI
MYO7A: myosin VIIA
MYOC: myocilin, trabecular meshwork inducible glucocorticoid response
NDP: Norrie disease (pseudoglioma)
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)
NIPBL: Nipped-B homolog (Drosophila)
NOTCH3: Notch homolog 3 (Drosophila)
NPC1: Niemann-Pick disease, type C1
NPC2: Niemann-Pick disease, type C2
NR0B1: nuclear receptor subfamily 0, group B, member 1
NR4A2: nuclear receptor subfamily 4, group A, member 2
OCA2: oculocutaneous albinism II (pink-eye dilution homolog, mouse)
OPA3: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPN1LW: opsin 1 (cone pigments), long-wave-sensitive (colour blindness, protan)
OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive (colour blindness, deutan)
OPN1SW: opsin 1 (cone pigments), short-wave-sensitive (colour blindness, tritan)
OTOF: otoferlin
PAH: phenylalanine hydroxylase
PANK2: pantothenate kinase 2 (Hallervorden-Spatz syndrome)
PARK2: Parkinson disease (autosomal recessive, juvenile) 2, parkin
PARK7: Parkinson disease (autosomal recessive, early onset) 7
PAX3: paired box gene 3 (Waardenburg syndrome 1)
PAX8: paired box gene 8
PCBD1: pterin-4 alpha-carbinolamine dehydratase/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
PDCD10: programmed cell death 10
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)
PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
PMP22: peripheral myelin protein 22
PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POU3F4: POU domain, class 3, transcription factor 4
PPOX: protoporphyrinogen oxidase
PPP1R12A: protein phosphatase 1, regulatory (inhibitor) subunit 12A
PRNP: prion protein (p27-30) (Creutzfeldt-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)
RAI1: retinoic acid induced 1
RB1: retinoblastoma 1 (including osteosarcoma)
RDS: retinal degeneration, slow
RET: ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)
RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
SAA1: serum amyloid A1
SBF2: SET binding factor 2
SCN5A: sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)
SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SETX: senataxin
SH3TC2: SH3 domain and tetratricopeptide repeats 2
SHOX: short stature homeobox
SLC22A5: solute carrier family 22 (organic cation transporter), member 5
SLC25A13: solute carrier family 25, member 13 (citrin)
SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC26A2: solute carrier family 26 (sulfate transporter), member 2
SLC26A4: solute carrier family 26, 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
SLC45A2: solute carrier family 45, member 2
SLC5A5: solute carrier family 5 (sodium iodide symporter), member 5
SLC7A9: solute carrier family 7 (cationic amino acid transporter, y+ system), member 9
SLITRK1: SLIT and NTRK-like family, member 1
SMAD4: SMAD, mothers against DPP homolog 4 (Drosophila)
SMN1: survival of motor neurone 1, telomeric
SMN2: survival of motor neurone 2, centromeric
SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)
SNAI2: snail homolog 2 (Drosophila)
SNCA: synuclein, alpha (non A4 component of amyloid precursor)
SNCAIP: synuclein, alpha interacting protein (synphilin)
SOD1: superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))
SOX10: SRY (sex determining region Y)-box 10
STK11: serine/threonine kinase 11
STRC: stereocilin
TAT: tyrosine aminotransferase
TAZ: tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome)
TBX1: T-box 1
TCOF1: Treacher Collins-Franceschetti syndrome 1
TECTA: tectorin alpha
TFR2: transferrin receptor 2
TG: thyroglobulin
TMC1: transmembrane channel-like 1
TMIE: transmembrane inner ear
TMPRSS3: transmembrane protease, serine 3
TNXB: tenascin XB
TP53: tumour protein p53 (Li-Fraumeni syndrome)
TPO: thyroid peroxidase
TSC1: tuberous sclerosis 1
TSC2: tuberous sclerosis 2
TSHB: thyroid stimulating hormone, beta
TSHR: thyroid stimulating hormone receptor
TYR: tyrosinase (oculocutaneous albinism IA)
TYRP1: tyrosinase-related protein 1
UBE3A: ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)
UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
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
VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
VHL: von Hippel-Lindau tumour suppressor
VMD2: vitelliform macular dystrophy 2 (Best disease, bestrophin)
WFS1: Wolfram syndrome 1 (wolframin)
WRN: Werner syndrome
YARS: tyrosyl-tRNA synthetase
ZNF9: zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)