
id | gene | OMIM (gene) | Disease name (phenotype) | Inheritance |
---|---|---|---|---|
1 | AAAS | 605378 | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive |
1 | AAAS | 605378 | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive |
2 | AARS1 | 601065 | Epileptic encephalopathy, early infantile, type 29 | Autosomal recessive |
2 | AARS1 | 601065 | Epileptic encephalopathy, early infantile, type 29 | Autosomal recessive |
3 | AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure | Autosomal recessive |
3 | AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure | Autosomal recessive |
4 | AASS | 605113 | Hyperlysinemia, type 1 and type 2 | Autosomal recessive |
4 | AASS | 605113 | Hyperlysinemia, type 1 and type 2 | Autosomal recessive |
5 | ABAT | 137150 | GABA-transaminase deficiency | Autosomal recessive |
5 | ABAT | 137150 | GABA-transaminase deficiency | Autosomal recessive |
6 | ABCA1 | 600046 | Tangier disease | Autosomal recessive |
6 | ABCA1 | 600046 | Tangier disease | Autosomal recessive |
7 | ABCA12 | 607800 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive |
7 | ABCA12 | 607800 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive |
8 | ABCA3 | 601615 | Surfactant metabolism dysfunction, pulmonary, type 3 | Autosomal recessive |
8 | ABCA3 | 601615 | Surfactant metabolism dysfunction, pulmonary, type 3 | Autosomal recessive |
9 | ABCA4 | 601691 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive |
9 | ABCA4 | 601691 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive |
10 | ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive |
10 | ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive |

