Genopathy
Gene-Disorder Association · Article
Gene
DSP
Desmoplakin
Disorder
Dilated Cardiomyopathy
First reported 2000
Supporting publications 37
Key publication · gene–disorder Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.Human molecular genetics · 2000
Key publication · disorder Idiopathic cardiomegaly.Transactions of the American Clinical and Climatological Association · 1954
Manually curated
Association Review

In brief

The association between DSP (Desmoplakin) and Dilated Cardiomyopathy is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 66
Symptoms 0
Compounds 0
Trials 0
Publications 37
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

2 sources

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

Request access
03
DSP

The gene

1 source summary

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

Request access
04
Dilated Cardiomyopathy

The disorder

12 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

66 clinical variants

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

Request access
06
Literature

Reading

37 publications

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

Request access
07
Provenance

References & sources

12 references

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

Request access