Early-onset sutural cataract
ORPHA:98985Clinical subtypeAutosomal dominantInfancy, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| BFSP2 | beaded filament structural protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 603212 |
| CRYBA1 | crystallin beta A1 | Disease-causing germline mutation(s) in | gene with protein product | 123610 |
| CRYBB2 | crystallin beta B2 | Disease-causing germline mutation(s) in | gene with protein product | 123620 |
| GJA8 | gap junction protein alpha 8 | Disease-causing germline mutation(s) in | gene with protein product | 600897 |
| MIP | major intrinsic protein of lens fiber | Disease-causing germline mutation(s) in | gene with protein product | 154050 |
| CRYGS | crystallin gamma S | Disease-causing germline mutation(s) in | gene with protein product | 123730 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)