Gene-Disorder Association · Article
Gene
CHRNA4 Cholinergic Receptor Nicotinic Alpha 4 Subunit
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First reported
2004
Supporting publications
5
Manually curated Approved treatment annotated
Association Review
In brief The association between CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit) and Tobacco Addiction is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording a known molecular basis and a susceptibility locus.
Sources
2
Clinical variants
55
Symptoms
1
Compounds
2
Trials
126 of 351 via CHRNA4 compounds
Publications
5
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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02
Provenance
Evidence and sources 2 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
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2 source summaries
A gene summary alongside the source descriptions it was distilled from.
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04
Tobacco Addiction
The disorder 10 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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05
Phenotype
Clinical features 1 clinical feature
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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06
ClinVar and variant evidence
Genetic basis 55 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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07
Interventions
Therapeutics 2 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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08
Human studies
Clinical trials 351 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
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5 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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10
Provenance
References & sources 16 references
Every source and publication cited across this dossier, as one numbered reference list.
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