SCN11A

sodium voltage-gated channel alpha subunit 11

3 disorders 2 causative 1 untyped 3p22.2 gene with protein product

HGNC:10583 Monarch NCBI Gene 11280 ENSG00000168356 UniProt Q9UI33 OMIM 604385

Previous symbols: SCN12A. Aliases: Nav1.9, NaN, SNS-2.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Congenital Insensitivity to Pain	causative germline	mechanism: Impaired nociceptor excitability; Nav1.9 depolarization-block channelopathy subtype: HSAN VII scoped to subtype: HSAN VII
Familial_Episodic_Pain_Syndrome_With_Predominantly_Lower_Limb_Involvement	causative germline
erythromelalgia	untyped Reported gain-of-function or neuropathic sodium-channel contributor in primary erythromelalgia

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
hereditary sensory and autonomic neuropathy type 7 MONDO:0014244	AD	Definitive 2026-08-08	Congenital Insensitivity to Pain causative

Mechanism modules · computed from kb/

nociceptor_sodium_channel_excitability via Congenital Insensitivity to Pain

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.