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: rs121909335
rs121909335
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C0029401
Disease:
Osteitis Deformans 		0.020 GeneticVariation BEFREE The index patient, homozygous for the known p.Arg159His mutation in <i>VCP</i>, manifested a typical <i>VCP</i>-related myopathy phenotype, although with a markedly high creatine kinase value and a relatively early disease onset, and Paget disease of bone. 31848255 2020
dbSNP: rs121909335
rs121909335
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C0029401
Disease:
Osteitis Deformans 		0.020 GeneticVariation BEFREE We had previously identified p.Arg159His in an Austrian family with patients exhibiting both IBM and PDB. 19704082 2009