Complete atrioventricular septal defect with ventricular hypoplasia
ORPHA:99067Clinical subtypeAutosomal dominant
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NR2F2 | nuclear receptor subfamily 2 group F member 2 | Major susceptibility factor in | gene with protein product | 107773 |
| GATA6 | GATA binding protein 6 | Disease-causing germline mutation(s) in | gene with protein product | 601656 |
| CRELD1 | CRELD disulfide isomerase 1 | Major susceptibility factor in | gene with protein product | 607170 |
| GATA4 | GATA binding protein 4 | Disease-causing germline mutation(s) in | gene with protein product | 600576 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)