Male infertility due to globozoospermia
ORPHA:171709Clinical subtypeAutosomal recessiveAdult
Ассоциированные гены9
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CATSPERT | catsper channel auxiliary subunit tau | Disease-causing germline mutation(s) in | gene with protein product | 619776 |
| GGN | gametogenetin | Disease-causing germline mutation(s) in | gene with protein product | 609966 |
| PPP2R3C | protein phosphatase 2 regulatory subunit B''gamma | Disease-causing germline mutation(s) in | gene with protein product | 615902 |
| SEPTIN4 | septin 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603696 |
| GOPC | golgi associated PDZ and coiled-coil motif containing | Candidate gene tested in | gene with protein product | 606845 |
| ZPBP | zona pellucida binding protein | Disease-causing germline mutation(s) in | gene with protein product | 608498 |
| SPATA16 | spermatogenesis associated 16 | Disease-causing germline mutation(s) in | gene with protein product | 609856 |
| DPY19L2 | dpy-19 like 2 | Disease-causing germline mutation(s) in | gene with protein product | 613893 |
| PICK1 | protein interacting with PRKCA 1 | Disease-causing germline mutation(s) in | gene with protein product | 605926 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)