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: 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: 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 ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. 29804830 2018
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 ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. 29804830 2018
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 ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. 29804830 2018
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 ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. 29804830 2018
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 ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. 29804830 2018
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 Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. 28692196 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 VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. 27753622 2017
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 VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. 27753622 2017
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 		A 0.800 CausalMutation CLINVAR Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons. 28360103 2017
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 VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. 27753622 2017
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 VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. 27753622 2017
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 VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. 27753622 2017
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 VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. 27753622 2017
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: 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 		A 0.800 CausalMutation CLINVAR IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation. 27768726 2016
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 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: 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 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: 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 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: 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 		T 0.800 CausalMutation CLINVAR Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response. 27226613 2016
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 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: rs121909334
rs121909334
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C3151403
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		T 0.800 CausalMutation CLINVAR Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response. 27226613 2016
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 Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response. 27226613 2016
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 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: 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 Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response. 27226613 2016