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Male infertility due to globozoospermia

ORPHA:171709Clinical subtypeAutosomal recessiveAdult

Ассоциированные гены (9)

CATSPERT
catsper channel auxiliary subunit tau
Disease-causing germline mutation(s) in
OMIM: 619776
GGN
gametogenetin
Disease-causing germline mutation(s) in
OMIM: 609966
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
Disease-causing germline mutation(s) in
OMIM: 615902
SEPTIN4
septin 4
Disease-causing germline mutation(s) (loss of function) in
OMIM: 603696
GOPC
golgi associated PDZ and coiled-coil motif containing
Candidate gene tested in
OMIM: 606845
ZPBP
zona pellucida binding protein
Disease-causing germline mutation(s) in
OMIM: 608498
SPATA16
spermatogenesis associated 16
Disease-causing germline mutation(s) in
OMIM: 609856
DPY19L2
dpy-19 like 2
Disease-causing germline mutation(s) in
OMIM: 613893
PICK1
protein interacting with PRKCA 1
Disease-causing germline mutation(s) in
OMIM: 605926

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы