Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. 28692196 2018
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 GeneticVariation disease UNIPROT ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. 29804830 2018
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons. 28360103 2017
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 GeneticVariation disease BEFREE Here, we characterized the binding of ataxin3 to p97, showing that ataxin3 binds with low-micromolar affinity to both wild-type p97 and mutants linked to degenerative disorders known as multisystem proteinopathy 1 (MSP1); we further showed that the stoichiometry of binding is one ataxin3 molecule per p97 hexamer. 28939772 2017
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 GeneticVariation disease UNIPROT VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. 27753622 2017
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR Targeted next-generation sequencing assay for detection of mutations in primary myopathies. 26627873 2016
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. 26105173 2016
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease 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
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 GeneticVariation disease 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
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation. 27768726 2016
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 GeneticVariation disease UNIPROT Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. 25878907 2015
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR Global gene expression profiling in R155H knock-in murine model of VCP disease. 25388089 2015
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains. 26555887 2015
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 GeneticVariation disease CLINVAR Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis. 25617006 2015
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR Involvement of peripheral and central nervous systems in a valosin-containing protein mutation. 24829604 2014
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 GeneticVariation disease UNIPROT A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. 25125609 2014
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant. 25492614 2014
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization. 23333620 2013
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR Altered intersubunit communication is the molecular basis for functional defects of pathogenic p97 mutants. 24196964 2013
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR Phenotypic variability in three families with valosin-containing protein mutation. 22900631 2013
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. 22909335 2013
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. 23498975 2013
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 GeneticVariation disease UNIPROT A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. 23349634 2013
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology. 23029473 2012
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.610 CausalMutation disease CLINVAR Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. 23152587 2012