Genopathy
Gene-Disorder Association · Article
Gene
EMD
Emerin
Disorder
Cardiac Conduction Defect
First reported 2005
Supporting publications 2
Key publication · gene–disorder High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene.Circulation · 2005
Key publication · disorder Physical and laboratory findings preceding a case of sudden cardiac death.New York state journal of medicine · 1950
Manually curated
Association Review

In brief

The association between EMD (Emerin) and Cardiac Conduction Defect is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 6
Compounds 0
Trials 0
Publications 2
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
Cardiac Conduction Defect

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
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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06
Literature

Reading

2 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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