rs63750579, APP

N. diseases: 13
Disease: Cerebral Amyloid Angiopathy, Hereditary ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebral Amyloid Angiopathy, Hereditary
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
0.020 GeneticVariation BEFREE Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP. 20697050 2010
Cerebral Amyloid Angiopathy, Hereditary
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
0.020 GeneticVariation BEFREE The contribution of mutations in the amyloid precursor protein (APP) gene known as Flemish (APP/A692G) and Dutch (APP/E693Q) to the pathogenesis of Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis of the Dutch type, respectively, was studied in transgenic mice that overexpress the mutant APP in brain. 10671319 2000