Gene-Disorder Association · Article
Gene
LDLR Low Density Lipoprotein Receptor
×
First reported
1987
Supporting publications
278
Manually curated Approved treatment annotated
Association Review
In brief The association between LDLR (Low Density Lipoprotein Receptor) and Homozygous Familial Hypercholesterolemia is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.
Sources
2
Clinical variants
121
Symptoms
36
Compounds
6
Trials
22 of 1,573 via LDLR compounds
Publications
278
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 2 sources
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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Homozygous 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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Phenotype
Clinical features 33 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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ClinVar and variant evidence
Genetic basis 121 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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Mechanism overlap
Shared mechanisms Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Interventions
Therapeutics 6 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 1,573 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 15 references
Every source and publication cited across this dossier, as one numbered reference list.
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