Coloboma of iris
ORPHA:98944Morphological anomaly
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ACTG1 | actin gamma 1 | Disease-causing germline mutation(s) in | gene with protein product | 102560 |
| FZD5 | frizzled class receptor 5 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 601723 |
| SALL2 | spalt like transcription factor 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602219 |
| ABCB6 | ATP binding cassette subfamily B member 6 (LAN blood group) | Disease-causing germline mutation(s) in | gene with protein product | 605452 |
| PAX6 | paired box 6 | Disease-causing germline mutation(s) in | gene with protein product | 607108 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)