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
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: rs63750671
rs63750671
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.760 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712 1991
dbSNP: rs63750671
rs63750671
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.760 GeneticVariation UNIPROT Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058 1991
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
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
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.730 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712 1991
dbSNP: rs63750734
rs63750734
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
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
dbSNP: rs63750734
rs63750734
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.730 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712 1991
dbSNP: rs63750064
rs63750064
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.720 GeneticVariation UNIPROT Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058 1991
dbSNP: rs63750064
rs63750064
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.720 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712 1991
dbSNP: rs63749964
rs63749964
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.710 GeneticVariation UNIPROT Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058 1991
dbSNP: rs63749964
rs63749964
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.710 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712 1991
dbSNP: rs63750399
rs63750399
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.700 GeneticVariation UNIPROT Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058 1991
dbSNP: rs63750399
rs63750399
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.700 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712 1991
dbSNP: rs63750643
rs63750643
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.700 GeneticVariation UNIPROT Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058 1991
dbSNP: rs63750643
rs63750643
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.700 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712 1991
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0276496
Disease:
Familial Alzheimer Disease (FAD)
0.100 GeneticVariation BEFREE The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups. 1908231 1991
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: rs63750671
rs63750671
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.760 GeneticVariation UNIPROT Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. 1415269 1992