GRIN1 — glutamate ionotropic receptor NMDA type subunit 1 | MEDLIB

gene with protein productOMIM: 1382494 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3

Autosomal dominant non-syndromic intellectual disabilityORPHA:178469

Bilateral generalized polymicrogyriaORPHA:208447

Autosomal recessive non-syndromic intellectual disabilityORPHA:88616

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

Early infantile developmental and epileptic encephalopathyORPHA:1934

gene with protein productOMIM: 1382494 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3

Autosomal dominant non-syndromic intellectual disabilityORPHA:178469

Bilateral generalized polymicrogyriaORPHA:208447

Autosomal recessive non-syndromic intellectual disabilityORPHA:88616

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

Early infantile developmental and epileptic encephalopathyORPHA:1934