Early-onset posterior subcapsular cataract
ORPHA:441447Clinical subtypeAutosomal dominant, Autosomal recessive
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| LEMD2 | LEM domain nuclear envelope protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 616312 |
| CRYBB2 | crystallin beta B2 | Disease-causing germline mutation(s) in | gene with protein product | 123620 |
| CHMP4B | charged multivesicular body protein 4B | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 610897 |
| EPHA2 | EPH receptor A2 | Disease-causing germline mutation(s) in | gene with protein product | 176946 |
| UNC45B | unc-45 myosin chaperone B | Disease-causing germline mutation(s) in | gene with protein product | 611220 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)