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: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		T 0.700 GeneticVariation CLINVAR Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. 30279455 2018
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		T 0.700 GeneticVariation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801 2017
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		T 0.700 GeneticVariation CLINVAR Four samples were shown to be heterozygous for 1 of 3 known causative mutations: p.A713T, p.V717I, and p.V717G; this highlights the importance of screening EOAD patients for causative mutations. 26803359 2016
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		T 0.700 GeneticVariation CLINVAR Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family. 25948718 2015
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		T 0.700 GeneticVariation CLINVAR Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants. 26402770 2015
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		T 0.700 GeneticVariation CLINVAR Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease. 23224319 2013
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		T 0.700 GeneticVariation CLINVAR AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions. 19363265 2009
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		T 0.700 GeneticVariation CLINVAR Familial Alzheimer disease associated with A713T mutation in APP. 15488330 2004
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		T 0.700 GeneticVariation CLINVAR A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. 15365148 2004
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		T 0.700 GeneticVariation CLINVAR More missense in amyloid gene. 1303275 1992