rs63750066, APP

N. diseases: 9
Disease: Dementia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dementia
CUI: C0497327
Disease: Dementia
0.020 GeneticVariation BEFREE We describe a case of dementia clinically compatible with frontotemporal dementia in an APP Ala713Thr mutation carrier in which both [18F]Florbetapir PET uptake and Aβ1-42 cerebrospinal fluid levels were normal. 28304299 2017
Dementia
CUI: C0497327
Disease: Dementia
0.020 GeneticVariation BEFREE Three members of an Italian family with autosomal dominant dementia and multiple strokes had the A713T mutation of the APP gene. 15365148 2004