Genopathy
Gene-Disorder Association · Article
Gene
LMNA
Lamin A/C
Disorder
Atrioventricular Block
First reported 2002
Supporting publications 11
Key publication · gene–disorder Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.Journal of the American College of Cardiology · 2002
Key publication · disorder [Total atrioventricular block following blind gunshot injury of the heart].Klinicheskaia meditsina · 1950
Manually curated
Association Review

In brief

The association between LMNA (Lamin A/C) and Atrioventricular Block is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 1
Symptoms 0
Compounds 0
Trials 0
Publications 11
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

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
LMNA

The gene

1 source summary

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

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04
Atrioventricular Block

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
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

11 publications

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

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07
Provenance

References & sources

11 references

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

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