rs121909335, VCP

N. diseases: 9
Disease: Osteitis Deformans ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteitis Deformans
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
Osteitis Deformans
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