SCN9A — sodium voltage-gated channel alpha subunit 9 | MEDLIB

gene with protein productOMIM: 6034157 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (gain of function) in3

Hereditary sodium channelopathy-related small fibers neuropathyORPHA:306577

Paroxysmal extreme pain disorderORPHA:46348

Primary erythromelalgiaORPHA:90026

Disease-causing germline mutation(s) (loss of function) in2

Hereditary sensory and autonomic neuropathy type 2ORPHA:970

Congenital insensitivity to pain-anosmia-neuropathic arthropathyORPHA:88642

Ген-кандидат2

Genetic epilepsy with febrile seizure plusORPHA:36387

Dravet syndromeORPHA:33069

gene with protein productOMIM: 6034157 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (gain of function) in3

Hereditary sodium channelopathy-related small fibers neuropathyORPHA:306577

Paroxysmal extreme pain disorderORPHA:46348

Primary erythromelalgiaORPHA:90026

Disease-causing germline mutation(s) (loss of function) in2

Hereditary sensory and autonomic neuropathy type 2ORPHA:970

Congenital insensitivity to pain-anosmia-neuropathic arthropathyORPHA:88642

Ген-кандидат2

Genetic epilepsy with febrile seizure plusORPHA:36387

Dravet syndromeORPHA:33069