Incomplete congenital stationary night blindness, Schubert-Bornschein type
ORPHA:714070Clinical subtypeAutosomal recessive, X-linked recessive
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CACNA1F | calcium voltage-gated channel subunit alpha1 F | Disease-causing germline mutation(s) in | gene with protein product | 300110 |
| CABP4 | calcium binding protein 4 | Disease-causing germline mutation(s) in | gene with protein product | 608965 |
| CACNA2D4 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Disease-causing germline mutation(s) in | gene with protein product | 608171 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)