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SOX9

SRY-box transcription factor 9

gene with protein productOMIM: 6081606 заболеваний
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)5
Isolated Pierre Robin sequenceORPHA:718
→
46,XY complete gonadal dysgenesisORPHA:242
→
46,XX ovotesticular difference of sex developmentORPHA:2138
→
46,XY partial gonadal dysgenesisORPHA:251510
→
46,XX testicular difference of sex developmentORPHA:393
→
Disease-causing germline mutation(s) (loss of function) in1
Campomelic dysplasiaORPHA:140
→
Данные: Orphadata (CC-BY-4.0)