Association Review
In brief The association between ABCA1 (ATP Binding Cassette Subfamily A Member 1) and Familial Hypercholesterolemia is reported, with clinical genetic testing available.
Sources
1
Clinical variants
3
Symptoms
0
Compounds
5
Trials
26 of 2,132 via ABCA1 compounds
Publications
0
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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Familial Hypercholesterolemia
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 3 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Population genetics
GWAS signals 1 GWAS phenotype
Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.
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Interventions
Therapeutics 5 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 2,132 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
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Provenance
References & sources 6 references
Every source and publication cited across this dossier, as one numbered reference list.
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