Intermittent porphyria

Disease Term Disease ID Gene Symbol Classification References Source
Acute intermittent porphyria 79276, C0162565 HMBS Causal Pathogenic evidence from ClinVar 1301948, 1427766, 1496994, 1714233, 2243128, 6132132, 7757070, 7962538, 8081367, 8262523, 8268934, 8270254, 8270256, 8401516, 8772850, 8825929, 9199558, 9225970, 9463797, 9654202, 10453740, 10494093, 10502788, 10602775, 10657149, 10782018, 11013452, 11030413, 11399210, 11857754, 12372055, 12406973, 12773194, 14669009, 14757946, 14970743, 15669678, 16211556, 18406650, 19138865, 19292878, 23815679, 25703257, 25870942, 26075277, 27604308 ClinVar