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: rs1038579230
rs1038579230
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C0751706
Disease:
Primary Progressive Nonfluent Aphasia 		0.010 GeneticVariation BEFREE We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient. 27439681 2016
dbSNP: rs1038579230
rs1038579230
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C0038868
Disease:
Progressive supranuclear palsy 		0.010 GeneticVariation BEFREE We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient. 27439681 2016
dbSNP: rs1038579230
rs1038579230
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C0338451
Disease:
Frontotemporal dementia 		0.010 GeneticVariation BEFREE We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient. 27439681 2016
dbSNP: rs121909329
rs121909329
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C3151403
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		0.800 GeneticVariation UNIPROT A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. 23349634 2013
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 ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. 29804830 2018
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 Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene. 27209344 2016
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 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 		T 0.800 CausalMutation CLINVAR VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death. 19237541 2009
dbSNP: rs121909329
rs121909329
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C3151403
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		T 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: 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 A novel ATP-dependent conformation in p97 N-D1 fragment revealed by crystal structures of disease-related mutants. 20512113 2010
dbSNP: rs121909329
rs121909329
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C3151403
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		T 0.800 CausalMutation CLINVAR Global gene expression profiling in R155H knock-in murine model of VCP disease. 25388089 2015
dbSNP: rs121909329
rs121909329
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C3151403
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		T 0.800 CausalMutation CLINVAR The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology. 23029473 2012
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 		T 0.800 CausalMutation CLINVAR The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology. 23029473 2012
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 		T 0.800 CausalMutation CLINVAR Global gene expression profiling in R155H knock-in murine model of VCP disease. 25388089 2015
dbSNP: rs121909329
rs121909329
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C3151403
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		T 0.800 CausalMutation CLINVAR VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death. 19237541 2009
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 A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. 25125609 2014
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 Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. 17935506 2007
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: 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 VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. 20104022 2010
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 Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. 25878907 2015
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 Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations. 21822278 2011
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 		T 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: 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 Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings. 20335036 2010
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 A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. 23349634 2013