Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE Inclusion body myopathy with early-onset Paget disease and fronto-temporal dementia is a rare adult late-onset disease related to valosin-containing protein gene mutations with an autosomal dominance inheritance. 30955949 2019
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE Heterozygous missense mutations in the human VCP gene cause inclusion body myopathy associated with Paget disease of bone and fronto-temporal dementia (IBMPFD) and amyotrophic lateral sclerosis (ALS). 30100055 2018
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE We analyzed the VCP gene in a cohort of 199 patients with frontotemporal dementia and identified 7 heterozygous mutations in unrelated families, including 3 novel mutations segregating with dementia. 30005904 2018
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 Biomarker disease BEFREE To our knowledge, this is the first study to report the time course of radiological imaging of 3 patients from 2 families with VCP-related amyotrophic lateral sclerosis (ALS) and dementia. 28738334 2017
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE Neither patient had a family history of weakness or manifested other symptoms reported with VCP mutations such as PDB or dementia. 25617006 2015
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE Mutations in valosin-containing protein (VCP) cause inclusion body myopathy (IBM) associated with Paget's disease of the bone, fronto-temporal dementia and amyotrophic lateral sclerosis (IBMPFD/ALS). 23250913 2013
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia. 23140793 2013
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE This stimulatory effect was lost when we used VCP mutants (R155H, R159G, and R191Q) known to cause Inclusion Body Myopathy with Paget's disease of bone and Fronto-temporal Dementia (IBMPFD) and/or familial Amyotrophic Lateral Sclerosis (ALS). 23349634 2013
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE Mis-sense mutations in VCP gene are associated with the pathogenesis of two inherited diseases: inclusion body myopathy associated with Paget's disease of the bone and front-temporal dementia (IBMPFD) and familial amyotrophic lateral sclerosis (ALS). 24215292 2013
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE Immunoprecipitation assays revealed an abnormal interaction between ATP7A(T994I) and p97/VCP, an ubiquitin-selective chaperone which is mutated in two autosomal dominant forms of motor neuron disease: amyotrophic lateral sclerosis and inclusion body myopathy with early-onset Paget disease and fronto-temporal dementia. 22210628 2012
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 Biomarker disease BEFREE Both NF1 and VCP/p97 are critical for dendritic spine formation, which provides the cellular mechanism explaining the cognitive deficits and dementia found in patients. 22449146 2012
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 Biomarker disease BEFREE The functions of neurofibromin and VCP in spinogenesis were shown to correlate with the learning disability and dementia phenotypes seen in patients with IBMPFD. 22105171 2011
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 Biomarker disease BEFREE The combination of late-onset muscular dystrophy, rimmed vacuoles and inclusion bodies in the muscle biopsy, and Paget's disease of bone suggests a mutation in the Valosin-containing protein gene (VCP, p97 or CDC48) even without dementia. 20116073 2010
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE Inclusion body myopathy associated with Paget's disease of the bone and fronto-temporal dementia (IBMPFD) is a progressive autosomal dominant disorder caused by mutations in p97/VCP (valosin-containing protein). p97/VCP is a member of the AAA+ (ATPase associated with a variety of activities) protein family and participates in multiple cellular processes. 20410287 2010
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. 19380227 2009
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE We identified the p.R155C missense mutation in the VCP gene segregating in an Italian family with three affected siblings, two of whom had a progressive myopathy associated with dementia, whereas one exhibited a progressive myopathy and preclinical signs of Paget's disease of bone. 17763460 2008
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease LHGDN New genes, new dilemmas: FTLD genetics and its implications for families. 18166610 2008
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE Recently, mutations in the valosin-containing protein gene (VCP) were found to be causative for a rare form of dementia [Watts GDJ, et al.: Nat Genet 2004;36:377-381]. 17622780 2007
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease LHGDN Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy. 17457594 2007
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease LHGDN Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein. 17907600 2007
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE Genetic variation in VCP does not appear to be a common cause of familial or sporadic PDB in the absence of myopathy and dementia. 16199218 2006
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE The rare syndrome of IBMPFD (inclusion body myopathy, PDB and fronto-temporal dementia) is due to mutations in the VCP gene and these also cluster in the domain of VCP that interacts with ubiquitin, suggesting a common disease mechanism with SQSTM1-mediated PDB. 16104845 2005
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease LHGDN Mutant valosin-containing protein causes a novel type of frontotemporal dementia. 15732117 2005
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 GeneticVariation disease BEFREE We identified a novel missense mutation in the VCP gene (R159H; 688G>A) segregating with this disease in an Austrian family of four affected siblings, who exhibited progressive proximal myopathy and Paget disease of the bone but without clinical signs of dementia. 16247064 2005
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.200 Biomarker disease HPO