APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Alzheimer Disease, Early Onset ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1223904774
rs1223904774
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		0.010 GeneticVariation BEFREE Using this approach, we generated human induced pluripotent stem cells with heterozygous and homozygous dominant early onset Alzheimer's disease-causing mutations in amyloid precursor protein (APP(Swe)) and presenilin 1 (PSEN1(M146V)) and derived cortical neurons, which displayed genotype-dependent disease-associated phenotypes. 27120160 2016