APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Cerebral Amyloid Angiopathy, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
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
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
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