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 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
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