Gene-Disorder Association · Article
Gene
ABCG8 ATP Binding Cassette Subfamily G Member 8
×
First reported
1974
Supporting publications
1
Manually curated Approved treatment annotated
Association Review
In brief The association between ABCG8 (ATP Binding Cassette Subfamily G Member 8) and Homozygous Familial Hypercholesterolemia is a manually-curated gene–disease association, supported by 2 contributing sources, 1 of them expert-curated.
Sources
2
Clinical variants
0
Symptoms
36
Compounds
2
Trials
1 of 1,347 via ABCG8 compounds
Publications
1
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.
Request access 02
Provenance
Evidence and sources 2 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
Request access 1 source summary
A gene summary alongside the source descriptions it was distilled from.
Request access 04
Homozygous Familial Hypercholesterolemia
The disorder 6 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
Request access 05
Phenotype
Clinical features 33 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
Request access 06
Population genetics
GWAS signals 1 GWAS phenotype
Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.
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
Interventions
Therapeutics 2 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
Request access 09
Human studies
Clinical trials 1,347 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
Request access 1 publication
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
Request access 11
Provenance
References & sources 8 references
Every source and publication cited across this dossier, as one numbered reference list.
Request access 
