rs63750671, APP

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.760 GeneticVariation BEFREE Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 27206484 2016
Amyloid angiopathy
CUI: C2931784
Disease: Amyloid angiopathy
0.010 GeneticVariation BEFREE Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation. 9754958 1998
Cerebral Amyloid Angiopathy
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
0.010 GeneticVariation BEFREE We earlier described a Flemish APP (A692G) mutation causing a form of early-onset AD with a prominent cerebral amyloid angiopathy and unusually large senile plaque cores. 12163376 2002
Senile Plaques
CUI: C0333463
Disease: Senile Plaques
0.010 GeneticVariation BEFREE Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation. 9754958 1998
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.010 GeneticVariation BEFREE While patients with the Dutch APP mutation (E693Q) have predominantly hemorrhagic strokes, Flemish APP (A692G) patients develop both strokes and Alzheimer's disease (AD). 12505425 2002
Cerebral Amyloid Angiopathy, Hereditary
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
0.010 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
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
CUI: C2751536
Disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
0.700 CausalMutation CLINVAR
Alzheimer disease type 1
CUI: C2931257
Disease: Alzheimer disease type 1
0.700 CausalMutation CLINVAR