rs781049584, APP

N. diseases: 18
Disease: Osteitis Deformans ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteitis Deformans
CUI: C0029401
Disease: Osteitis Deformans
0.010 GeneticVariation BEFREE Here we have tested ten major inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia-linked mutants for ATPase activity and found that all have increased activity over the wild type, with one mutant, p97(A232E), having three times higher activity. 22270372 2012