Gene index

Every gene this site covers, in alphabetical order. Each page explains what the gene does and describes the conditions linked to it.

• ABCA4 — ATP binding cassette subfamily A member 4 (Stargardt macular degeneration)
• ABCD1 — ATP binding cassette subfamily D member 1 (X-linked adrenoleukodystrophy)
• ACADM — acyl-CoA dehydrogenase medium chain (Medium-chain acyl-CoA dehydrogenase deficiency)
• ATP7B — ATPase copper transporting beta (Wilson disease)
• CFTR — CF transmembrane conductance regulator (Cystic fibrosis)
• COL1A1 — collagen type I alpha 1 chain (Osteogenesis imperfecta)
• DMD — dystrophin (Duchenne and Becker muscular dystrophy)
• ELN — elastin (Williams syndrome)
• F8 — coagulation factor VIII (Hemophilia A)
• F9 — coagulation factor IX (Hemophilia B)
• FBN1 — fibrillin 1 (Marfan syndrome)
• FGFR3 — fibroblast growth factor receptor 3 (Achondroplasia)
• FMR1 — fragile X messenger ribonucleoprotein 1 (Fragile X syndrome)
• GALT — galactose-1-phosphate uridylyltransferase (Galactosemia)
• GBA — glucosylceramidase beta 1 (Gaucher disease)
• GJB2 — gap junction protein beta 2 (Nonsyndromic hearing loss)
• GLA — galactosidase alpha (Fabry disease)
• HBB — hemoglobin subunit beta (Sickle cell disease, Beta thalassemia)
• HTT — huntingtin (Huntington's disease)
• IL2RG — interleukin 2 receptor subunit gamma (X-linked severe combined immunodeficiency)
• KAT6A — KAT6A (no plain-language summary available)
• KAT6B — lysine acetyltransferase 6B (Genitopatellar syndrome, Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant)
• KCNH2 — potassium voltage-gated channel subfamily H member 2 (Romano-Ward syndrome)
• KCNQ1 — potassium voltage-gated channel subfamily Q member 1 (Romano-Ward syndrome, Jervell and Lange-Nielsen syndrome)
• MECP2 — methyl-CpG binding protein 2 (Rett syndrome)
• MT-ATP6 — mitochondrially encoded ATP synthase 6 (Neuropathy, ataxia, and retinitis pigmentosa, Leigh syndrome)
• MT-ND4 — mitochondrially encoded NADH dehydrogenase 4 (Leber hereditary optic neuropathy)
• MT-TL1 — mitochondrially encoded tRNA leucine 1 (UUA/G) (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes)
• MYBPC3 — myosin binding protein C3 (Familial hypertrophic cardiomyopathy)
• MYH7 — myosin heavy chain 7 (Familial hypertrophic cardiomyopathy)
• NF1 — neurofibromin 1 (Neurofibromatosis type 1)
• PAH — phenylalanine hydroxylase (Phenylketonuria)
• PKD1 — polycystin 1, transient receptor potential channel interacting (Autosomal dominant polycystic kidney disease)
• SERPINA1 — serpin family A member 1 (Alpha-1 antitrypsin deficiency)
• SMN1 — survival of motor neuron 1, telomeric (Spinal muscular atrophy)
• TSC1 — TSC complex subunit 1 (Tuberous sclerosis complex)
• TSC2 — TSC complex subunit 2 (Tuberous sclerosis complex)
• UBE3A — ubiquitin protein ligase E3A (Angelman syndrome)
• VHL — von Hippel-Lindau tumor suppressor (Von Hippel-Lindau syndrome)