Genopathy
Gene-Disorder Association · Article
Gene
VCP
Valosin Containing Protein
Disorder
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
First reported 2004
Supporting publications 72
Key publication · gene–disorder Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.Nature genetics · 2004
Key publication · disorder p47 is a cofactor for p97-mediated membrane fusion.Nature · 1997
Manually curated
Association Review

In brief

The association between VCP (Valosin Containing Protein) and Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 503
Symptoms 46
Compounds 0
Trials 0
Publications 72
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

3 sources

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

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03
VCP

The gene

1 source summary

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

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04
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

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
Phenotype

Clinical features

43 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

503 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

72 publications

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

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09
Provenance

References & sources

15 references

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

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