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DEPDC5

DEP domain containing 5, GATOR1 subcomplex subunit

gene with protein productOMIM: 6141913 заболевания
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in2
Familial focal epilepsy with variable fociORPHA:98820
→
Sleep-related hypermotor epilepsyORPHA:98784
→
Герминативная мутация (причина)1
Non-specific early-onset epileptic encephalopathyORPHA:442835
→
Данные: Orphadata (CC-BY-4.0)