APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Alzheimer's Disease ×
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: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation BEFREE According to the literature, the APP Ala713Thr mutation is associated with Alzheimer's disease and cerebral amyloid angiopathy. 28304299 2017
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation BEFREE Our findings, also supported by the β-amyloid plasma assay, confirm (1) the pathogenic role of the APP A713T mutation, (2) the specific phenotype (AD with cerebrovascular lesions) associated with this mutation, and (3) the large span of age at onset, not influenced by APOE, TOMM40, and TREM2 genes. 25948718 2015
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. 24829003 2014
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT EFNS guidelines for the diagnosis and management of Alzheimer's disease. 20831773 2010
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT Preventing Alzheimer's disease and cognitive decline. 21500874 2010
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease. 15201367 2004
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy. 15365148 2004
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation BEFREE This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy. 15365148 2004
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 12034808 2002
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease. 11311152 2001
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 11528419 2001
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein. 10677483 2000
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. 10867787 2000
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease. 11063718 2000
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT Identification of a novel aspartic protease (Asp 2) as beta-secretase. 10656250 1999
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation. 9754958 1998
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). 9328472 1997
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease. 8577393 1995
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations. 8267572 1993
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. 1465129 1992
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. 1303239 1992
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT More missense in amyloid gene. 1303275 1992
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033 1992
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. 1415269 1992
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.730 GeneticVariation UNIPROT Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058 1991