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: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0233794
Disease:
Memory impairment
0.020 GeneticVariation BEFREE The Tg-APP (Sw, V717F)/B6 mice at 11-14 months displayed decreased motor coordination, learning and memory deficits, and severely increased anxiety. 15114629 2004
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0233794
Disease:
Memory impairment
0.020 GeneticVariation BEFREE We previously showed that mice over-expressing a human mutated form of APP (APP(V717F)) display age-dependent recognition memory deficits associated with the progression of amyloid deposition. 10718322 2000
dbSNP: rs781049584
rs781049584
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0233794
Disease:
Memory impairment
0.010 GeneticVariation BEFREE Mice carrying mutated human APPswe and PS1 (A246E) transgenes (A/P mice) show age-dependent memory impairment in hippocampus-dependent tasks. 15006688 2004
dbSNP: rs572842823
rs572842823
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0233794
Disease:
Memory impairment
0.010 GeneticVariation BEFREE A recently described mouse line, Tg(HuAPP695.K670N/M671L)2576, expressing human amyloid precursor protein with a familial AD gene mutation, age-related amyloid deposits, and memory deficits, was found to develop a significant microglial response using Griffonia simplicifolia lectin or phosphotyrosine probe to identify microglia Both Griffonia simplicifolia lectin and phosphotyrosine staining showed increased numbers of intensely labeled, often enlarged microglia clustered in and around plaques, consistent with microglial activation related to beta-amyloid formation. 9422548 1998