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 A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. 15365148 2004
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE This V642I-APP knock-in mutant line may serve as a model to study the early pathogenic processes of AD in vivo and to develop therapeutics for this stage. 15147316 2004
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation UNIPROT Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease. 15201367 2004
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE Here, we report that both lithium as well as valproic acid (VPA) inhibit beta-amyloid peptide (Abeta) production in HEK293 cells stably transfected with Swedish amyloid precursor protein (APP)(751) and in the brains of the PDAPP (APP(V717F)) Alzheimer's disease transgenic mouse model at clinically relevant plasma concentrations. 15170327 2004
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE The EFRH phage evoked effective auto-immune antibodies in amyloid precursor protein [V717I] (APP[V717I]) transgenic mice that recapitulate the amyloid plaques and vascular pathology of Alzheimer's disease (AD). 12559780 2003
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation UNIPROT An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 12034808 2002
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
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
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
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
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation UNIPROT The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 11528419 2001
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation UNIPROT Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein. 10677483 2000
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
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
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
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
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE To determine the effect of apoE on Abeta deposition and AD pathology, we compared APP(V717F) transgenic (TG) mice expressing mouse, human, or no apoE (apoE(-/-)). 10694577 2000
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation UNIPROT Identification of a novel aspartic protease (Asp 2) as beta-secretase. 10656250 1999
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
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
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE The PDAPP transgenic mouse overexpresses human amyloid precursor protein V717F (PDAPP minigene) and develops age-related cerebral amyloid-beta protein (Abeta) deposits similar to senile plaques in Alzheimer's disease. 9278541 1997
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
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
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE Comparison of neurodegenerative pathology in transgenic mice overexpressing V717F beta-amyloid precursor protein and Alzheimer's disease. 8795633 1996
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE We conclude that this familial AD may originate from the missense mutation 717Val --> Ile in the amyloid precursor protein gene and that the clinical picture is typical of AD, except for normal-pressure hydrocephalus and psychiatric phenomena. 8649577 1996
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group. 8863158 1996
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
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
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE A second member of the original family with the valine to isoleucine substitution at codon 717 of the amyloid precursor protein died after the clinical diagnosis of Alzheimer's disease had been made in life. 8084541 1994
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE We present the clinical features and limited neuropathology of AD in these families with the APP 717 Val-->Ile mutation. 8247223 1994
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
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
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE Screening of the mis-sense mutation producing the 717Val-->Ile substitution in the amyloid precursor protein in Japanese familial and sporadic Alzheimer's disease. 8410047 1993