rs387906709, UBQLN2

N. diseases: 9
Disease: Presenile dementia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.010 GeneticVariation BEFREE Here, we show that ALS/dementia-linked UBQLN2(P497H) transgenic mice develop neuronal pathology with ubiquilin2/ubiquitin/p62-positive inclusions in the brain, especially in the hippocampus, recapitulating several key pathological features of dementia observed in human patients with UBQLN2 mutations. 25246588 2014