Pulverulent cataract
ORPHA:98984Clinical subtypeAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены9
| 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 |
| CRYBB2 | crystallin beta B2 | Disease-causing germline mutation(s) in | gene with protein product | 123620 |
| 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 |
| GJA3 | gap junction protein alpha 3 | Disease-causing germline mutation(s) in | gene with protein product | 121015 |
| GJA8 | gap junction protein alpha 8 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600897 |
| CRYBB1 | crystallin beta B1 | Disease-causing germline mutation(s) in | gene with protein product | 600929 |
| MAF | MAF bZIP transcription factor | Disease-causing germline mutation(s) in | gene with protein product | 177075 |
| VIM | vimentin | Disease-causing germline mutation(s) in | gene with protein product | 193060 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)