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 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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.760 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
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
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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.760 GeneticVariation UNIPROT A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. 15365148 2004
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.760 GeneticVariation UNIPROT Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease. 15201367 2004
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.760 GeneticVariation BEFREE Studying more than 6000 amyloid plaques immunostained for total Aβ (Aβt), Aβ40 or Aβ42, we show here that Aβ40 FD could efficiently differentiate between (i) AD patients and aged-control individuals (P<0.001); (ii) sporadic and familial AD due to presenilin-1 or APP (A692G) mutations (P<0.001); and (iii) three transgenic mouse models of different genotypes (P<0.001). 20015575 2011
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