Early-onset nuclear cataract
ORPHA:98991Clinical subtypeAutosomal dominant, Autosomal recessive, X-linked recessiveInfancy, Neonatal
Ассоциированные гены18
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| WFS1 | wolframin ER transmembrane glycoprotein | Disease-causing germline mutation(s) in | gene with protein product | 606201 |
| 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 |
| CRYBB2 | crystallin beta B2 | Disease-causing germline mutation(s) in | gene with protein product | 123620 |
| CRYBB3 | crystallin beta B3 | Disease-causing germline mutation(s) in | gene with protein product | 123630 |
| 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) in | gene with protein product | 600897 |
| MIP | major intrinsic protein of lens fiber | Disease-causing germline mutation(s) in | gene with protein product | 154050 |
| CRYBB1 | crystallin beta B1 | Disease-causing germline mutation(s) in | gene with protein product | 600929 |
| NHS | NHS actin remodeling regulator | Disease-causing germline mutation(s) in | gene with protein product | 300457 |
| BFSP1 | beaded filament structural protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 603307 |
| EPHA2 | EPH receptor A2 | Disease-causing germline mutation(s) in | gene with protein product | 176946 |
| FYCO1 | FYVE and coiled-coil domain autophagy adaptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 607182 |
| UNC45B | unc-45 myosin chaperone B | Disease-causing germline mutation(s) in | gene with protein product | 611220 |
| CRYBA2 | crystallin beta A2 | Disease-causing germline mutation(s) in | gene with protein product | 600836 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)