NR5A1 — nuclear receptor subfamily 5 group A member 1 | MEDLIB

gene with protein productOMIM: 1847576 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)4

46,XX gonadal dysgenesisORPHA:243

46,XY complete gonadal dysgenesisORPHA:242

46,XY partial gonadal dysgenesisORPHA:251510

Male infertility with azoospermia or oligozoospermia due to single gene mutationORPHA:399805

Disease-causing germline mutation(s) (loss of function) in2

46,XX ovotesticular difference of sex developmentORPHA:2138

46,XX testicular difference of sex developmentORPHA:393

gene with protein productOMIM: 1847576 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)4

46,XX gonadal dysgenesisORPHA:243

46,XY complete gonadal dysgenesisORPHA:242

46,XY partial gonadal dysgenesisORPHA:251510

Male infertility with azoospermia or oligozoospermia due to single gene mutationORPHA:399805

Disease-causing germline mutation(s) (loss of function) in2

46,XX ovotesticular difference of sex developmentORPHA:2138

46,XX testicular difference of sex developmentORPHA:393