Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations. 8267572

1993
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT A system for studying the effect(s) of familial Alzheimer disease mutations on the processing of the beta-amyloid peptide precursor. 8476439

1993
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT The only specific molecular defects that cause Alzheimer's disease which have been identified so far are missense mutations in the gene encoding the beta-amyloid precursor protein (beta-APP) in certain families with an autosomal dominant form of the disease (familial Alzheimer's disease, or FAD). 1465129

1992
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's 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
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 Biomarker CTD_human Vitamin E protects nerve cells from amyloid beta protein toxicity. 1497677

1992
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT Previous studies have identified three mutations at APP codon 717 which are pathogenic for Alzheimer disease (AD). 1415269

1992
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's 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
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT More missense in amyloid gene. 1303275

1992
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's 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
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer's disease. 1944558

1991
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 Biomarker CTD_human Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712

1991
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT Direct sequencing of DNA from a family with autopsy-proven Alzheimer's disease revealed a single amino acid substitution (Phe for Val) in the transmembrane domain of the amyloid precursor protein. 1925564

1991
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT These results suggest that the Val----Ile change in the APP causes AD, regardless of ethnic background. 1908231

1991
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 Biomarker CTD_human Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058

1991
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's 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