rs121909329, VCP

N. diseases: 11
Disease: Pick Disease of the Brain ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.020 GeneticVariation BEFREE Therefore, we propose that hIBMPFTD p97/VCP mutants p97(R155P) and p97(A232E) possess structural defects that may compromise the mechanism of p97/VCP activity within large multiprotein complexes. 19506019 2009
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.020 GeneticVariation BEFREE Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling. 18341608 2008