Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life
Busca la enfermedad o gen a estudiar (Recomendable en inglés) |
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Enfermedad/Phenotype | Phenotype MIM number | Simbolo del Gen | Nombre del Gen |
Ventricular fibrillation, familial, 1 | 603829 | SCN5A | sodium channel, voltage-gated, type V, alpha subunit |
Ventricular septal defect 1 | 614429 | GATA4 | GATA binding protein 4 |
Ventricular septal defect 3 | 614432 | NKX2-5 | NK2 homeobox 5 |
Ventricular tachycardia, catecholaminergic polymorphic, 1 | 604772 | RYR2 | yanodine receptor 2 (cardiac) |
Ventricular tachycardia, catecholaminergic polymorphic, 2 | 611938 | CASQ2 | calsequestrin 2 (cardiac muscle) |
Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency | 201475 | ACADVL | acyl-CoA dehydrogenase, very long chain |
Vitelliform macular dystrophy, adult-onset | 608161 | BEST1 | bestrophin 1 |
Vitreoretinochoroidopathy | 193220 | BEST1 | bestrophin 1 |
Vitreoretinopathy with phalangeal epiphyseal dysplasia | COL2A1 | collagen, type II, alpha 1 | |
Vohwinkel syndrome | 124500 | GJB2 | gap junction protein, beta 2, 26kDa |
Von Hippel-Lindau syndrome | 193300 | VHL | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase |