Early-onset posterior polar cataract
ORPHA:98993Clinical subtypeAutosomal dominantInfancy, Neonatal
Ассоциированные гены8
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PITX3 | paired like homeodomain 3 | Disease-causing germline mutation(s) in | gene with protein product | 602669 |
| 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 |
| GJA3 | gap junction protein alpha 3 | Disease-causing germline mutation(s) in | gene with protein product | 121015 |
| MIP | major intrinsic protein of lens fiber | Disease-causing germline mutation(s) in | gene with protein product | 154050 |
| CHMP4B | charged multivesicular body protein 4B | Disease-causing germline mutation(s) in | gene with protein product | 610897 |
| EPHA2 | EPH receptor A2 | Disease-causing germline mutation(s) in | gene with protein product | 176946 |
| PANK4 | pantothenate kinase 4 (inactive) | Disease-causing germline mutation(s) in | gene with protein product | 606162 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)