Genopathy
Gene-Disorder Association · Article
Gene
EMD
Emerin
Disorder
Dilated Cardiomyopathy
First reported 2001
Supporting publications 3
Key publication · gene–disorder Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.Journal of cell science · 2001
Key publication · disorder Idiopathic cardiomegaly.Transactions of the American Clinical and Climatological Association · 1954
Manually curated
Association Review

In brief

The association between EMD (Emerin) and Dilated Cardiomyopathy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 1
Symptoms 0
Compounds 0
Trials 0
Publications 3
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
EMD

The gene

1 source summary

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

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04
Dilated Cardiomyopathy

The disorder

12 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

1 clinical variant

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

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06
Literature

Reading

3 publications

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

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07
Provenance

References & sources

7 references

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

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