|
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 |
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
|
|
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 |
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 |
|
rs63750264
|
|
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 |
|
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
|
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 |
Identification of a novel aspartic protease (Asp 2) as beta-secretase.
|
10656250 |
1999 |
|
rs63750264
|
|
Alzheimer's Disease
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
|
15776278 |
2005 |
|
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
|
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 |
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 |
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
|
T |
0.900 |
CausalMutation
|
CLINVAR |
The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons.
|
24524897 |
2014 |
|
rs63750264
|
|
Alzheimer's Disease
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
|
15776278 |
2005 |
|
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
|
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 |
Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
|
24650794 |
2014 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease.
|
15201367 |
2004 |
|
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 |
The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.
|
11528419 |
2001 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
|
9754958 |
1998 |
|
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
|
|
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
|
T |
0.900 |
CausalMutation
|
CLINVAR |
A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease.
|
1925564 |
1991 |