RBSN — rabenosyn, RAB effector | MEDLIB

gene with protein productOMIM: 6095112 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)1

Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndromeORPHA:675775

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

Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSNORPHA:675782

gene with protein productOMIM: 6095112 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)1

Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndromeORPHA:675775

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

Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSNORPHA:675782