Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.150 GeneticVariation phenotype BEFREE Valosin Containing Protein (VCP) disease is an autosomal dominant multisystem proteinopathy caused by mutations in the VCP gene, and is primarily associated with progressive muscle weakness, including atrophy of the pelvic and shoulder girdle muscles. 28575052 2017
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.150 GeneticVariation phenotype BEFREE FTD was diagnosed in two individuals and suspected in the third one who also displayed muscle weakness.A VCP R159C mutation was found. 22900631 2013
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.150 Biomarker phenotype BEFREE Our results elucidate that VCP mutations result in disturbances in several cellular processes, which will help us in the understanding of the pathological mechanisms resulting in muscle weakness and other features of VCP associated disease. 19828315 2009
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.150 GeneticVariation phenotype BEFREE We report a novel heterozygous VCP gene mutation (R159C) in a 69-year-old Italian patient presenting with slowly progressive muscle weakness of the distal upper and proximal lower limbs since the age of 50 years, 18 years later FTD supervened. 17889967 2009
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.150 GeneticVariation phenotype LHGDN Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. 17935506 2007
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.150 GeneticVariation phenotype BEFREE We report novel VCP mutations N387H and L198W in six individuals from two families who presented with proximal muscle weakness at a mean age of diagnosis of 40 years, most losing the ability to walk within a few years of onset. 17935506 2007
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.150 Biomarker phenotype HPO