Genopathy
Gene-Disorder Association · Article
Gene
SCN9A
Sodium Voltage-Gated Channel Alpha Subunit 9
Disorder
Indifference To Pain, Congenital, Autosomal Recessive
First reported 2007
Supporting publications 11
Key publication · gene–disorder Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.Clinical genetics · 2007
Key publication · disorder Congenital indifference to pain.Proceedings of the Royal Society of Medicine · 1950
Manually curated
Association Review

In brief

The association between SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9) and Indifference To Pain, Congenital, Autosomal Recessive is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 292
Symptoms 34
Compounds 0
Trials 0
Publications 11
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
SCN9A

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Indifference To Pain, Congenital, Autosomal Recessive

The disorder

4 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

15 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

292 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

11 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

14 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access