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: C0002395
Disease:
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations. 8267572 1993
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033 1992
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. 1465129 1992
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. 1303239 1992
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. 1415269 1992
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT More missense in amyloid gene. 1303275 1992
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		A 0.900 CausalMutation CLINVAR A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. 1925564 1991
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058 1991
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.900 CausalMutation CLINVAR A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. 1925564 1991
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712 1991
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.800 GeneticVariation UNIPROT Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP. 20697050 2010
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.800 GeneticVariation UNIPROT A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy. 16178030 2005
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.800 GeneticVariation UNIPROT Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation. 12654973 2003
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.800 GeneticVariation UNIPROT Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. 11409420 2001
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.800 GeneticVariation UNIPROT Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. 2111584 1990
dbSNP: rs63749810
rs63749810
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.800 GeneticVariation UNIPROT
dbSNP: rs63749810
rs63749810
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		T 0.800 CausalMutation CLINVAR
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		T 0.800 CausalMutation CLINVAR
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		G 0.800 CausalMutation CLINVAR
dbSNP: rs63751039
rs63751039
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.790 GeneticVariation BEFREE We studied a new amyloid-beta precursor protein (<i>App</i>) knock-in mouse model of Alzheimer's disease (<i>App<sup>NL-G-F</sup></i> ), containing the Swedish KM670/671NL mutation, the Iberian I716F mutation and the Artic E693G mutation, which generates elevated levels of amyloid beta (Aβ)<sub>40</sub> and Aβ<sub>42</sub> without the confounds associated with APP overexpression. 31439589 2019
dbSNP: rs63751039
rs63751039
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.790 GeneticVariation BEFREE Here we demonstrate the utility of a robust, cost-optimized cell-free expression technique for production of the physiologically important transmembrane fragment of amyloid precursor protein, APP686-726, containing Alzheimer's disease mutations in the juxtamembrane (E693G, Arctic form) and the transmembrane parts (V717G, London form, or L723P, Australian form). 27071311 2016
dbSNP: rs63751039
rs63751039
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.790 GeneticVariation BEFREE In a transgenic (Tg) mouse model of AD expressing amyloid precursor protein (APP) with the arctic (E693G) mutation, pathology spreads along anatomically connected structures. 24517102 2014
dbSNP: rs63751039
rs63751039
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.790 GeneticVariation BEFREE The Arctic mutation (p.E693G/p.E22G)fs within the β-amyloid (Aβ) region of the β-amyloid precursor protein gene causes an autosomal dominant disease with clinical picture of typical Alzheimer's disease. 24252272 2013
dbSNP: rs63751039
rs63751039
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.790 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