|
Alzheimer disease type 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Alzheimer Disease, Early Onset
|
|
0.700 |
GeneticVariation
|
CLINVAR |
AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions.
|
19363265 |
2009 |
|
Alzheimer Disease, Early Onset
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Familial Alzheimer disease associated with A713T mutation in APP.
|
15488330 |
2004 |
|
Alzheimer Disease, Early Onset
|
|
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 |
|
Alzheimer Disease, Early Onset
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.
|
23224319 |
2013 |
|
Alzheimer Disease, Early Onset
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.
|
25948718 |
2015 |
|
Alzheimer Disease, Early Onset
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.
|
15365148 |
2004 |
|
Alzheimer Disease, Early Onset
|
|
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 |
|
Alzheimer Disease, Early Onset
|
|
0.700 |
GeneticVariation
|
CLINVAR |
More missense in amyloid gene.
|
1303275 |
1992 |
|
Alzheimer Disease, Early Onset
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants.
|
26402770 |
2015 |
|
Alzheimer Disease, Early Onset
|
|
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 |
|
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 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein.
|
10677483 |
2000 |
|
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 |
|
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 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians.
|
24829003 |
2014 |
|
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 |
|
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 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations.
|
8267572 |
1993 |
|
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 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
More missense in amyloid gene.
|
1303275 |
1992 |
|
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 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
EFNS guidelines for the diagnosis and management of Alzheimer's disease.
|
20831773 |
2010 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).
|
12034808 |
2002 |
|
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 |