Gene-Disorder Association · Article
Gene
SCN5A Sodium Voltage-Gated Channel Alpha Subunit 5
×
First reported
1999
Supporting publications
12
Manually curated Approved treatment annotated
Association Review
In brief The association between SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5) and Paroxysmal Familial Ventricular Fibrillation is well established and manually curated, drawing on a single expert-curated source, which records a causative germline mutation.
Sources
1
Clinical variants
37
Symptoms
0
Compounds
1
Trials
0 of 118 via SCN5A compounds
Publications
12
Contents
01
At a glance
Association overview A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
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Provenance
Evidence and sources 1 source
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
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A gene summary alongside the source descriptions it was distilled from.
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Paroxysmal Familial Ventricular Fibrillation
The disorder 6 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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ClinVar and variant evidence
Genetic basis 37 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Interventions
Therapeutics 1 compound or drug
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 118 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
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Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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Provenance
References & sources 14 references
Every source and publication cited across this dossier, as one numbered reference list.
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