APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781049584
rs781049584
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0333463
Disease:
Senile Plaques
0.020 GeneticVariation BEFREE Valproic acid reduces neuritic plaque formation and improves learning deficits in APP(Swe) /PS1(A246E) transgenic mice via preventing the prenatal hypoxia-induced down-regulation of neprilysin. 24289518 2014
dbSNP: rs781049584
rs781049584
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0333463
Disease:
Senile Plaques
0.020 GeneticVariation BEFREE In the present study we demonstrated that repeated hypoxia increased beta-amyloid (Abeta) generation and neuritic plaques formation by elevating beta-cleavage of APP in APP(swe)+PS1(A246E) transgenic mice. 18063223 2009
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0333463
Disease:
Senile Plaques
0.020 GeneticVariation BEFREE Expression of apoE3 and apoE4 in APP(V717F) TG, apoE(-/-) mice resulted in fibrillar Abeta deposits and neuritic plaques by 15 months of age and substantially (>10-fold) more fibrillar deposits were observed in apoE4-expressing APP(V717F) TG mice. 10694577 2000
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0333463
Disease:
Senile Plaques
0.020 GeneticVariation BEFREE The PDAPP transgenic mouse overexpresses human amyloid precursor protein V717F (PDAPP minigene) and develops age-related cerebral amyloid-beta protein (Abeta) deposits similar to senile plaques in Alzheimer's disease. 9278541 1997
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0333463
Disease:
Senile Plaques
0.010 GeneticVariation BEFREE The APP(E693Q) mice did not develop amyloid plaques at any age studied, up to 30 months. 20641005 2010
dbSNP: rs1412095491
rs1412095491
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0333463
Disease:
Senile Plaques
0.010 GeneticVariation BEFREE Immunostaining showed that Abeta42 was predominant over Abeta40 in neuritic plaques in both patients, whereas Abeta40 was found to be predominant over Abeta42 in cerebral amyloid angiopathy in the patient with E184D. 10644793 2000
dbSNP: rs63750671
rs63750671
Entrez Id: 351
Gene Symbol: APP
APP
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