Association Review
In brief The association between KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2) and Body Mass Index Quantitative Trait Locus 11 is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.
Sources
1
Clinical variants
1
Symptoms
6
Compounds
1
Trials
2 of 255 via KCNH2 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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Body Mass Index Quantitative Trait Locus 11
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 3 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 clinical variant
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 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 255 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 8 references
Every source and publication cited across this dossier, as one numbered reference list.
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