DisGeNET - a database of gene-disease associations

AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, C3151403

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906789

VCP

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909329

VCP

0.800

CausalMutation

CLINVAR

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.

15034582

2004

dbSNP:

rs121909334

VCP

0.800

CausalMutation

CLINVAR

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.

15034582

2004

dbSNP:

rs121909330

VCP

0.700

CausalMutation

CLINVAR

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.

15034582

2004

dbSNP:

rs387906789

VCP

0.800

CausalMutation

CLINVAR

Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.

16247064

2005

dbSNP:

rs121909335

VCP

0.700

CausalMutation

CLINVAR

Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.

16247064

2005

dbSNP:

rs1554669087

VCP

0.700

CausalMutation

CLINVAR

Valosin-containing protein gene mutations: clinical and neuropathologic features.

16790606

2006

dbSNP:

rs121909330

VCP

0.700

CausalMutation

CLINVAR

Pathological consequences of VCP mutations on human striated muscle.

16984901

2007

dbSNP:

rs1554669087

VCP

0.700

CausalMutation

CLINVAR

Pathological consequences of VCP mutations on human striated muscle.

16984901

2007

dbSNP:

rs121909329

VCP

0.800

CausalMutation

CLINVAR

VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.

19237541

2009

dbSNP:

rs121909334

VCP

0.800

CausalMutation

CLINVAR

VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.

19237541

2009

dbSNP:

rs387906789

VCP

0.800

CausalMutation

CLINVAR

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation.

17889967

2009

dbSNP:

rs387906789

VCP

0.800

CausalMutation

CLINVAR

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His.

19704082

2009

dbSNP:

rs121909335

VCP

0.700

CausalMutation

CLINVAR

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His.

19704082

2009

dbSNP:

rs121909335

VCP

0.700

CausalMutation

CLINVAR

TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies.

19225410

2009

dbSNP:

rs121909329

VCP

0.800

GeneticVariation

UNIPROT

Exome sequencing reveals VCP mutations as a cause of familial ALS.

21145000

2010

dbSNP:

rs121909334

VCP

0.800

CausalMutation

CLINVAR

Exome sequencing reveals VCP mutations as a cause of familial ALS.

21145000

2010

dbSNP:

rs121909334

VCP

0.800

GeneticVariation

UNIPROT

Exome sequencing reveals VCP mutations as a cause of familial ALS.

21145000

2010

dbSNP:

rs387906789

VCP

0.800

GeneticVariation

UNIPROT

Exome sequencing reveals VCP mutations as a cause of familial ALS.

21145000

2010

dbSNP:

rs387906790

VCP

0.700

GeneticVariation

UNIPROT

Exome sequencing reveals VCP mutations as a cause of familial ALS.

21145000

2010

dbSNP:

rs1554669087

VCP

0.700

CausalMutation

CLINVAR

Valosin-containing protein gene mutations: cellular phenotypes relevant to neurodegeneration.

21249466

2011

dbSNP:

rs121909329

VCP

0.800

CausalMutation

CLINVAR

The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology.

23029473

2012

dbSNP:

rs121909334

VCP

0.800

CausalMutation

CLINVAR

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

21984748

2012

dbSNP:

rs121909334

VCP

0.800

CausalMutation

CLINVAR

The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP.

22270372

2012

dbSNP:

rs387906789

VCP

0.800

CausalMutation

CLINVAR

Valosin-containing protein mutation and Parkinson's disease.

21816654

2012