VCP, valosin containing protein, 7415

N. diseases: 376; N. variants: 25
Disease: Osteitis Deformans ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909330
rs121909330
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C0029401
Disease:
Osteitis Deformans 		0.030 GeneticVariation BEFREE Among them, 2 were previously identified in pedigrees with a constellation of inclusion body myopathy with Paget disease of the bone and frontotemporal dementia (IBMPFD) and in FALS, and 2 other mutations (p.R159C and p.R155C) in IBMPFD alone. 23152587 2012
dbSNP: rs121909330
rs121909330
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C0029401
Disease:
Osteitis Deformans 		0.030 GeneticVariation BEFREE Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. 21320982 2011
dbSNP: rs121909330
rs121909330
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C0029401
Disease:
Osteitis Deformans 		0.030 GeneticVariation 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