DisGeNET - a database of gene-disease associations

Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1, C4551951

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:

rs121909329

VCP

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909330

VCP

0.800

GeneticVariation

CLINVAR

dbSNP:

rs121909331

VCP

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909332

VCP

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909329

VCP

0.800

GeneticVariation

UNIPROT

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

15034582

2004

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:

rs121909330

VCP

0.800

GeneticVariation

UNIPROT

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

15034582

2004

dbSNP:

rs121909330

VCP

0.800

CausalMutation

CLINVAR

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

15034582

2004

dbSNP:

rs121909331

VCP

0.800

GeneticVariation

UNIPROT

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

15034582

2004

dbSNP:

rs121909332

VCP

0.800

GeneticVariation

UNIPROT

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

GeneticVariation

UNIPROT

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:

rs121909335

VCP

0.800

GeneticVariation

UNIPROT

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

15034582

2004

dbSNP:

rs863225291

VCP

0.700

GeneticVariation

CLINVAR

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

15034582

2004

dbSNP:

rs121909329

VCP

0.800

GeneticVariation

UNIPROT

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

16247064

2005

dbSNP:

rs121909329

VCP

0.800

GeneticVariation

UNIPROT

Mutant valosin-containing protein causes a novel type of frontotemporal dementia.

15732117

2005

dbSNP:

rs121909330

VCP

0.800

GeneticVariation

UNIPROT

Mutant valosin-containing protein causes a novel type of frontotemporal dementia.

15732117

2005

dbSNP:

rs121909330

VCP

0.800

GeneticVariation

UNIPROT

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

16247064

2005

dbSNP:

rs121909331

VCP

0.800

GeneticVariation

UNIPROT

Mutant valosin-containing protein causes a novel type of frontotemporal dementia.

15732117

2005

dbSNP:

rs121909331

VCP

0.800

GeneticVariation

UNIPROT

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

16247064

2005

dbSNP:

rs121909332

VCP

0.800

GeneticVariation

UNIPROT

Mutant valosin-containing protein causes a novel type of frontotemporal dementia.

15732117

2005

dbSNP:

rs121909332

VCP

0.800

GeneticVariation

UNIPROT

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

16247064

2005

dbSNP:

rs121909334

VCP

0.800

GeneticVariation

UNIPROT

Mutant valosin-containing protein causes a novel type of frontotemporal dementia.

15732117

2005

dbSNP:

rs121909334

VCP

0.800

GeneticVariation

UNIPROT

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

16247064

2005

dbSNP:

rs121909335

VCP

0.800

CausalMutation

CLINVAR

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

16247064

2005