Disease | Gene | Product |
---|---|---|
ADPKD | PKD1 PKD2 | Polycystin 1 Polycystin 2 |
Acute intermittent porphyria | - | Porphobilinogen deaminase |
Familial hypercholesterolemia | LDLR | LDL receptor |
Huntington disease | HTT | Huntingtin |
Marfan syndrome | FBN1 | Fibrillin |
Multiple endocrine neoplasia (MEN) 1 | MEN1 | Tyrosine kinase |
Multiple endocrine neoplasia (MEN) 2 | RET | Menin |
Neurofibromatosis (NF) type 1 Neurofibromatosis (NF) type 2 | NF1 NF2 | RAS activators |
Porphyria cutanea tarda | - | Uroporphyrinogen decarboxylase |
Tuberous sclerosis | TSC1 TSC2 | Hamartin Tuberlin |
Von Hippel-Lindau (VHL) disease | VHL | HIF inhibitors |
Disease | Gene | Product |
---|---|---|
ARPKD | PKHD1 | Fibrocystin |
Oculocutaneous albinism | TYR | Tyrosinase |
Phenylketonuria (PKU) | PAH | Phenylalanine hydroxylase Tetrahydrobiopterin |
Alkaptonuria (AKU) | HGD | Homogentisate oxidase |
Homocystinuria | - | Cystathionine synthase Methionine synthase |
Cystinuria | - | Amino acid transporter |
Hartnup disease | - | Amino acid transporter |
Maple syrup urine disease (MSUD) | - | Branched-chain α-ketoacid dehydrogenase |
Cystic fibrosis (CF) | CFTR | Cl channel |
Kartagener syndrome | - | Dynein |
Sickle cell disease (SCD) | - | β-Globin |
Thalassemia | - | α-Globin β-Globin |
Hemochromatosis | HFE | Iron regulator protein |
Wilson disease | ATP7B | Cu channel |
Glycogen storage diseasess (GSD) | - | - |
Lysosomal storage diseasess (LSD) | - | - |
Disease | Gene | Product |
---|---|---|
Alport syndrome | COL4 | Type 4 collagen |
Fragile X syndrome | FMR1 | FMR protein |
Rett syndrome | MECP2 | Methyl-CpG binding protein 2 (MeCP2) |
Disease | Gene | Product |
---|---|---|
Bruton agammaglobulinemia | BTK | Bruton tyrosine kinase |
Duchenne muscular dystrophy (DMD) Becker muscular dystrophy (BMD) | DMD | Dystrophin |
Fabry disease | - | α-Galactosidase |
G6PD deficiency | G6PD | Glucose-6-phosphate dehydrogenase |
Haemophilia A & B & C | - | Factor 8 & 9 & 11 |
Hunter syndrome | - | Iduronate sulfatase |
Lesch-Nyhan syndrome | HPRT1 | HGPRT |
Menkes disease | ATP7A | Cu channel |
Ocular albinism | - | - |
Ornithine transcarbamylase deficiency | - | Ornithine transcarbamylase |
Wiskott-Aldrich syndrome | WAS | WAS protein |