Gene-Disorder Association · Article
Gene
VHL Von Hippel-Lindau Tumor Suppressor
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First reported
1993
Supporting publications
427
Manually curated Approved treatment annotated
Association Review
In brief The association between VHL (Von Hippel-Lindau Tumor Suppressor) and Von Hippel-Lindau Syndrome is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.
Sources
5
Clinical variants
1,760
Symptoms
65
Compounds
1
Trials
5 of 37 via VHL compounds
Publications
427
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 5 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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Von Hippel-Lindau Syndrome
The disorder 13 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 47 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 1,760 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Mechanism overlap
Shared mechanisms 1 shared pathway
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Interventions
Therapeutics 1 compound or drug
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 37 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 20 references
Every source and publication cited across this dossier, as one numbered reference list.
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