Genopathy
Gene-Disorder Association · Article
Gene
GJD2-DT
GJD2 Divergent Transcript
Disorder
Cardiomyopathy, Familial Hypertrophic, 11
First reported 2019
Supporting publications 41
Key publication · gene–disorder Novel phenotype-genotype correlations of hypertrophic cardiomyopathy caused by mutation in α-actin and myosin-binding protein genes in three unrelated Chinese families.Journal of cardiology · 2019
Key publication · disorder Calcification of the mitral annulus: etiology, clinical associations, complications and therapy.The American journal of medicine · 1979
Manually curated
Association Review

In brief

The association between GJD2-DT (GJD2 Divergent Transcript) and Cardiomyopathy, Familial Hypertrophic, 11 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 549
Symptoms 19
Compounds 0
Trials 0
Publications 41
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
GJD2-DT

The gene

1 source summary

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

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04
Cardiomyopathy, Familial Hypertrophic, 11

The disorder

7 database identifiers

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

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05
Phenotype

Clinical features

17 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

549 clinical variants

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

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07
Literature

Reading

41 publications

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

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08
Provenance

References & sources

12 references

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

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