APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Presenile dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751039
rs63751039
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0011265
Disease:
Presenile dementia 		0.020 GeneticVariation BEFREE The Arctic APP mutation (E693G) within the amyloid β (Aβ) domain of amyloid precursor protein (APP) leads to dementia with clinical features similar to Alzheimer's disease (AD), which is believed to be mediated via increased formation of protofibrils. 21880397 2012
dbSNP: rs63751039
rs63751039
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0011265
Disease:
Presenile dementia 		0.020 GeneticVariation BEFREE The Arctic APP mutation (E693G) leads to dementia with clinical features similar to Alzheimer disease (AD), but little is known about the pathogenic mechanism of this mutation. 19329229 2011