Genopathy
Gene-Disorder Association · Article
Gene
VCP
Valosin Containing Protein
Disorder
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
First reported 2012
Supporting publications 75
Key publication · gene–disorder Heteromeric p97/p97R155C complexes induce dominant negative changes in wild-type and autophagy 9-deficient Dictyostelium strains.PloS one · 2012
Key publication · disorder Motor neuron disease in Nova Scotia.Canadian Medical Association journal · 1974
Manually curated
Association Review

In brief

The association between VCP (Valosin Containing Protein) and Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 540
Symptoms 55
Compounds 0
Trials 0
Publications 75
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

4 sources

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

Request access
03
VCP

The gene

1 source summary

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

Request access
04
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

25 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

540 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

75 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access