Juvenile nephronophthisis
ORPHA:93592Clinical subtypeAutosomal recessive
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NPHP1 | nephrocystin 1 | Disease-causing germline mutation(s) in | gene with protein product | 607100 |
| NPHP4 | nephrocystin 4 | Disease-causing germline mutation(s) in | gene with protein product | 607215 |
| GLIS2 | GLIS family zinc finger 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608539 |
| WDR19 | WD repeat domain 19 | Disease-causing germline mutation(s) in | gene with protein product | 608151 |
| ANKS6 | ankyrin repeat and sterile alpha motif domain containing 6 | Disease-causing germline mutation(s) in | gene with protein product | 615370 |
| MAPKBP1 | mitogen-activated protein kinase binding protein 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 616786 |
| ADAMTS9 | ADAM metallopeptidase with thrombospondin type 1 motif 9 | Disease-causing germline mutation(s) in | gene with protein product | 605421 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)