SOX3 — SRY-box transcription factor 3 | MEDLIB

gene with protein productOMIM: 3134305 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3

Septo-optic dysplasia spectrumORPHA:3157

X-linked intellectual disability with isolated growth hormone deficiencyORPHA:67045

X-linked congenital generalized hypertrichosisORPHA:79495

Disease-causing germline mutation(s) (gain of function) in1

46,XX testicular difference of sex developmentORPHA:393

Disease-causing germline mutation(s) (loss of function) in1

Non-acquired panhypopituitarismORPHA:90695

gene with protein productOMIM: 3134305 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3

Septo-optic dysplasia spectrumORPHA:3157

X-linked intellectual disability with isolated growth hormone deficiencyORPHA:67045

X-linked congenital generalized hypertrichosisORPHA:79495

Disease-causing germline mutation(s) (gain of function) in1

46,XX testicular difference of sex developmentORPHA:393

Disease-causing germline mutation(s) (loss of function) in1

Non-acquired panhypopituitarismORPHA:90695