Association Review
In brief
The association between SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9) and Epilepsy is reported, with clinical genetic testing available.
Sources
1
Clinical variants
1
Symptoms
11
Compounds
13
Trials
204of 1,066 via SCN9A compounds
Publications
0
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
02
Provenance
Evidence and sources
1 source
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
2 source summaries
A gene summary alongside the source descriptions it was distilled from.
11 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
05
ClinVar and variant evidence
Genetic basis
1 clinical variant
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
06
Mechanism overlap
Shared mechanisms
1 shared pathway
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
07
Interventions
Therapeutics
13 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
08
Human studies
Clinical trials
1,066 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
09
Provenance
References & sources
11 references
Every source and publication cited across this dossier, as one numbered reference list.
