Gene-Disorder Association · Article
Gene
LDLR Low Density Lipoprotein Receptor
×
First reported
2005
Supporting publications
1
Manually curated Approved treatment annotated
Association Review
In brief The association between LDLR (Low Density Lipoprotein Receptor) and Lipid Metabolism Disorder is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.
Sources
2
Clinical variants
92
Symptoms
0
Compounds
4
Trials
170 of 1,612 via LDLR 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.
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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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Lipid Metabolism Disorder
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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ClinVar and variant evidence
Genetic basis 92 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Interventions
Therapeutics 4 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 1,612 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 6 references
Every source and publication cited across this dossier, as one numbered reference list.
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