Early-onset lamellar cataract
ORPHA:441452Clinical subtypeAutosomal dominant
Ассоциированные гены11
| 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 |
| CRYAA | crystallin alpha A | Disease-causing germline mutation(s) in | gene with protein product | 123580 |
| CRYAB | crystallin alpha B | Disease-causing germline mutation(s) in | gene with protein product | 123590 |
| CRYBA1 | crystallin beta A1 | Disease-causing germline mutation(s) in | gene with protein product | 123610 |
| CRYBA4 | crystallin beta A4 | Disease-causing germline mutation(s) in | gene with protein product | 123631 |
| CRYGC | crystallin gamma C | Disease-causing germline mutation(s) in | gene with protein product | 123680 |
| CRYGD | crystallin gamma D | Disease-causing germline mutation(s) in | gene with protein product | 123690 |
| HSF4 | heat shock transcription factor 4 | Disease-causing germline mutation(s) in | gene with protein product | 602438 |
| 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 |
| CRYGB | crystallin gamma B | Disease-causing germline mutation(s) in | gene with protein product | 123670 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)