Disease: Paget Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Paget Disease
CUI: C1368019
Disease: Paget Disease
0.070 GeneticVariation BEFREE The Implications of the Sequestosome 1 Mutation P392L in Patients with Paget's Disease in a United States Cohort. 26713335 2016
Paget Disease
CUI: C1368019
Disease: Paget Disease
0.070 GeneticVariation BEFREE Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease. 21195346 2011
Paget Disease
CUI: C1368019
Disease: Paget Disease
0.070 GeneticVariation BEFREE Preclinical studies suggest that the p62(P392L) mutation predisposes patients to developing PD rather than causing it. 20392234 2010
Paget Disease
CUI: C1368019
Disease: Paget Disease
0.070 GeneticVariation BEFREE The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts. 19589897 2009
Paget Disease
CUI: C1368019
Disease: Paget Disease
0.070 GeneticVariation BEFREE The classic late-onset Paget's disease is often caused by a P392L mutation in the gene SQSTM1, which disturbs signaling pathways in osteoclasts on cell activation. 19032921 2008
Paget Disease
CUI: C1368019
Disease: Paget Disease
0.070 GeneticVariation BEFREE Mice expressing p62(P392L) developed increased osteoclast numbers and progressive bone loss, but osteoblast numbers were not coordinately increased, as is seen in Paget disease. 17187080 2007
Paget Disease
CUI: C1368019
Disease: Paget Disease
0.070 GeneticVariation BEFREE There was a relationship between serum AP activity, as a marker of the disease, and the presence or absence of the G425R and P392L mutations, the subject's age, and the presence of Paget's disease. 15146436 2004