|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.
|
15365148 |
2004 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease.
|
8577393 |
1995 |
|
rs63750264
|
|
Alzheimer's Disease
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease.
|
1925564 |
1991 |
|
rs63750264
|
|
Alzheimer's Disease
|
T |
0.900 |
CausalMutation
|
CLINVAR |
A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease.
|
1925564 |
1991 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43).
|
9328472 |
1997 |
|
rs63750264
|
|
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 |
|
rs63750264
|
|
Alzheimer's Disease
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Although these data open perspectives for therapy of AD by gamma-secretase inhibition, the neuronal absence of PS1 failed to rescue the cognitive defect, assessed by the object recognition test, of the parent APP[V717I] transgenic mice.
|
11978821 |
2002 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).
|
12034808 |
2002 |
|
rs63750264
|
|
Alzheimer's Disease
|
A |
0.900 |
CausalMutation
|
CLINVAR |
APP717 missense mutation affects the ratio of amyloid beta protein species (A beta 1-42/43 and a beta 1-40) in familial Alzheimer's disease brain.
|
7806491 |
1994 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations.
|
8267572 |
1993 |
|
rs63750264
|
|
Alzheimer's Disease
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease.
|
27838006 |
2017 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.
|
10867787 |
2000 |
|
rs63750264
|
|
Alzheimer's Disease
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Early-onset Alzheimer's disease in two Iranian families: a genetic study.
|
25138979 |
2014 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
EFNS guidelines for the diagnosis and management of Alzheimer's disease.
|
20831773 |
2010 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians.
|
24829003 |
2014 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein.
|
10677483 |
2000 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Identification of a novel aspartic protease (Asp 2) as beta-secretase.
|
10656250 |
1999 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
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 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.
|
1415269 |
1992 |
|
rs63750264
|
|
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 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
More missense in amyloid gene.
|
1303275 |
1992 |
|
rs63750264
|
|
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 |
|
rs63750264
|
|
Alzheimer's Disease
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
|
24650794 |
2014 |
|
rs63750264
|
|
Alzheimer's Disease
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase.
|
19281847 |
2009 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
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 |