VCP, valosin containing protein, 7415

N. diseases: 376; N. variants: 25
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909335
rs121909335
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		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
rs121909330
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C3151403
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		A 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: rs863225291
rs863225291
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		A 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
rs121909329
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 16247064 2005
dbSNP: rs121909329
rs121909329
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Mutant valosin-containing protein causes a novel type of frontotemporal dementia. 15732117 2005
dbSNP: rs121909330
rs121909330
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Mutant valosin-containing protein causes a novel type of frontotemporal dementia. 15732117 2005
dbSNP: rs121909330
rs121909330
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 16247064 2005
dbSNP: rs121909331
rs121909331
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Mutant valosin-containing protein causes a novel type of frontotemporal dementia. 15732117 2005
dbSNP: rs121909331
rs121909331
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 16247064 2005
dbSNP: rs121909332
rs121909332
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Mutant valosin-containing protein causes a novel type of frontotemporal dementia. 15732117 2005
dbSNP: rs121909332
rs121909332
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 16247064 2005
dbSNP: rs121909334
rs121909334
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Mutant valosin-containing protein causes a novel type of frontotemporal dementia. 15732117 2005
dbSNP: rs121909334
rs121909334
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 16247064 2005
dbSNP: rs121909335
rs121909335
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		T 0.800 CausalMutation CLINVAR Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 16247064 2005
dbSNP: rs121909335
rs121909335
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Mutant valosin-containing protein causes a novel type of frontotemporal dementia. 15732117 2005
dbSNP: rs121909335
rs121909335
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 16247064 2005
dbSNP: rs387906789
rs387906789
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C3151403
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		A 0.800 CausalMutation CLINVAR Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 16247064 2005
dbSNP: rs121909335
rs121909335
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C3151403
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		T 0.700 CausalMutation CLINVAR Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 16247064 2005
dbSNP: rs387906789
rs387906789
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		A 0.700 CausalMutation CLINVAR Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 16247064 2005
dbSNP: rs121909330
rs121909330
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C0026848
Disease:
Myopathy 		0.050 GeneticVariation BEFREE Here, we report the central nervous system autopsy findings in a 55-year-old German patient with inclusion body myopathy and frontotemporal dementia who harbors a heterozygous R155C missense mutation residing in the N-terminal CDC48 domain of VCP, which is involved in ubiquitin binding. 15732117 2005
dbSNP: rs121909330
rs121909330
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C0236642
Disease:
Pick Disease of the Brain 		0.030 GeneticVariation BEFREE Here, we report the central nervous system autopsy findings in a 55-year-old German patient with inclusion body myopathy and frontotemporal dementia who harbors a heterozygous R155C missense mutation residing in the N-terminal CDC48 domain of VCP, which is involved in ubiquitin binding. 15732117 2005
dbSNP: rs121909330
rs121909330
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C0338451
Disease:
Frontotemporal dementia 		0.030 GeneticVariation BEFREE Here, we report the central nervous system autopsy findings in a 55-year-old German patient with inclusion body myopathy and frontotemporal dementia who harbors a heterozygous R155C missense mutation residing in the N-terminal CDC48 domain of VCP, which is involved in ubiquitin binding. 15732117 2005
dbSNP: rs121909329
rs121909329
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. 16321991 2006
dbSNP: rs121909330
rs121909330
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. 16321991 2006
dbSNP: rs121909331
rs121909331
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease:
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 GeneticVariation UNIPROT Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. 16321991 2006