Genopathy
Gene-Disorder Association · Article
Gene
LDB3
LIM Domain Binding 3
Disorder
Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction
First reported 2003
Supporting publications 4
Key publication · gene–disorder Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.Journal of the American College of Cardiology · 2003
Key publication · disorder Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.The Journal of clinical investigation · 1996
Manually curated
Association Review

In brief

The association between LDB3 (LIM Domain Binding 3) and Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 141
Symptoms 18
Compounds 0
Trials 0
Publications 4
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

4 sources

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

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03
LDB3

The gene

1 source summary

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

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04
Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction

The disorder

14 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

9 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

141 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

4 publications

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

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09
Provenance

References & sources

10 references

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

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