Genopathy
Gene-Disorder Association · Article
Gene
LOC126861898
BRD4-Independent Group 4 Enhancer GRCh37_chr14:23893609-23894808
Disorder
Hypertrophic Cardiomyopathy
First reported 1993
Supporting publications 162
Key publication · gene–disorder A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families.Biochemical and biophysical research communications · 1993
Key publication · disorder Idiopathic myocardial hypertrophy simulating rheumatic heart disease.American heart journal · 1954
Manually curated
Association Review

In brief

The association between LOC126861898 (BRD4-Independent Group 4 Enhancer GRCh37_chr14:23893609-23894808) and Hypertrophic Cardiomyopathy is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 295
Symptoms 0
Compounds 0
Trials 0
Publications 162
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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02
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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03
LOC126861898

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Hypertrophic Cardiomyopathy

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

295 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

162 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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07
Provenance

References & sources

10 references

Every source and publication cited across this dossier, as one numbered reference list.

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