WWOX — WW domain containing oxidoreductase | MEDLIB

gene with protein productOMIM: 6051314 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)2

46,XY partial gonadal dysgenesisORPHA:251510

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathyORPHA:708171

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

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiencyORPHA:284282

Основной фактор предрасположенности1

Squamous cell carcinoma of the esophagusORPHA:99977

gene with protein productOMIM: 6051314 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)2

46,XY partial gonadal dysgenesisORPHA:251510

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathyORPHA:708171

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

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiencyORPHA:284282

Основной фактор предрасположенности1

Squamous cell carcinoma of the esophagusORPHA:99977