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SCN11A
sodium voltage-gated channel alpha subunit 11
gene with protein product
OMIM: 604385
6 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (gain of function) in
3
Hereditary sodium channelopathy-related small fibers neuropathy
ORPHA:306577
→
Familial episodic pain syndrome with predominantly lower limb involvement
ORPHA:391392
→
Hereditary sensory and autonomic neuropathy type 7
ORPHA:391397
→
Ген-кандидат
3
Paroxysmal extreme pain disorder
ORPHA:46348
→
Primary erythromelalgia
ORPHA:90026
→
Congenital insensitivity to pain-anosmia-neuropathic arthropathy
ORPHA:88642
→
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Редкие заболевания
SCN11A
🧬
SCN11A
sodium voltage-gated channel alpha subunit 11
gene with protein product
OMIM: 604385
6 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (gain of function) in
3
Hereditary sodium channelopathy-related small fibers neuropathy
ORPHA:306577
→
Familial episodic pain syndrome with predominantly lower limb involvement
ORPHA:391392
→
Hereditary sensory and autonomic neuropathy type 7
ORPHA:391397
→
Ген-кандидат
3
Paroxysmal extreme pain disorder
ORPHA:46348
→
Primary erythromelalgia
ORPHA:90026
→
Congenital insensitivity to pain-anosmia-neuropathic arthropathy
ORPHA:88642
→