Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
0.800 CausalMutation CLINVAR Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. 2111584 1990
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
0.800 GeneticVariation UNIPROT Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. 2111584 1990
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2931672
Disease:
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
0.700 GeneticVariation UNIPROT Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. 2111584 1990
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751494
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT
0.700 GeneticVariation UNIPROT Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. 2111584 1990
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C3888309
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
0.700 GeneticVariation UNIPROT Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. 2111584 1990
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C3888307
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT
0.700 GeneticVariation UNIPROT Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. 2111584 1990
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C3888308
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
0.700 GeneticVariation UNIPROT Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. 2111584 1990
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 CausalMutation CLINVAR 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 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: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation UNIPROT 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 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 CausalMutation CLINVAR 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
0.900 CausalMutation CLINVAR Amyloid precursor protein gene mutation in early-onset Alzheimer's disease. 1678057 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
0.900 CausalMutation CLINVAR APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease. 1679288 1991
dbSNP: rs63749964
rs63749964
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C1863052
Disease:
ALZHEIMER DISEASE, FAMILIAL, 1
0.800 GeneticVariation UNIPROT Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. 1944558 1991
dbSNP: rs63749964
rs63749964
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C1863052
Disease:
ALZHEIMER DISEASE, FAMILIAL, 1
0.800 CausalMutation CLINVAR Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. 1944558 1991
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C1863052
Disease:
ALZHEIMER DISEASE, FAMILIAL, 1
0.800 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: C1863052
Disease:
ALZHEIMER DISEASE, FAMILIAL, 1
0.800 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: C1863052
Disease:
ALZHEIMER DISEASE, FAMILIAL, 1
0.800 GeneticVariation UNIPROT 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: C1863052
Disease:
ALZHEIMER DISEASE, FAMILIAL, 1
0.800 CausalMutation CLINVAR 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: C1863052
Disease:
ALZHEIMER DISEASE, FAMILIAL, 1
0.800 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: C1863052
Disease:
ALZHEIMER DISEASE, FAMILIAL, 1
0.800 GeneticVariation UNIPROT 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: C1863052
Disease:
ALZHEIMER DISEASE, FAMILIAL, 1
0.800 CausalMutation CLINVAR 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: C1863052
Disease:
ALZHEIMER DISEASE, FAMILIAL, 1
0.800 CausalMutation CLINVAR APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease. 1679288 1991