Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease BEFREE The factors leading to abnormal processing of APP, and consequent beta/A4 amyloid accumulation within the AD brain, have yet to be identified. 1627458 1992
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE The mutation can be used as a new marker for linkage studies involving the APP gene, although more comprehensive population studies are required to determine the status of the mutation as a possible risk factor for the development of AD. 1634237 1992
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease CTD_human Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease BEFREE The protease inhibitor-containing APP751/770 isoforms represented an average of 10.5% of total APP in CSF of patients with Alzheimer's disease (AD, n = 22), multi-infarct dementia (MID, n = 5) and normal controls (n = 10). 1677459 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease UNIPROT Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease CTD_human Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Thus these APP and PRIP mutations are rare in both FAD and nonfamilial AD. 1679288 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease BEFREE Differential splicing of Alzheimer's disease amyloid A4 precursor RNA in rat tissues: PreA4(695) mRNA is predominantly produced in rat and human brain. 1689572 1990
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease BEFREE The beta-amyloid protein (beta/A4), derived from a larger amyloid precursor protein (APP), is the principal component of senile plaques in Alzheimer's disease. 1691865 1990
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 AlteredExpression disease BEFREE As a model for biological aging, the process of cellular senescence in vitro was used. mRNA levels of beta-amyloid precursor protein associated with Alzheimer disease were compared in human fibroblasts in culture at early passage and when the same fibroblasts were grown to senescence after more than 52 population doublings. 1702541 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 AlteredExpression disease BEFREE To understand the pathological process by which amyloid is deposited in Alzheimer's disease, it is important to characterize the proteolytic processing events of the beta-amyloid precursor protein (beta-APP) from which the amyloid-forming fragment is excised. 1707846 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease BEFREE The amyloid beta-protein precursor (APP) gene and its products are implicated in the pathogenesis of Alzheimer's disease. 1768858 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease BEFREE We report here that overexpression of this APP transgene in neurons is sufficient to produce extracellular dense-core amyloid plaques, neurofibrillary tangles and neuronal degeneration similar to that in the AD brain. 1793460 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 AlteredExpression disease BEFREE Alzheimer's disease: beta-amyloid precursor protein mRNA expression in mononuclear blood cells. 1838578 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease BEFREE Transcriptional regulation of the gene encoding the amyloid precursor protein (APP) may play an important role in the formation of the amyloid depositions observed in Alzheimer disease and Down syndrome patients. 1851527 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease BEFREE The results suggest that alternative splicing of the APP gene in AD is not significantly different from age-matched controls, but distinct from the developing fetal brain. 1851528 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease BEFREE In the absence of a laboratory animal model of AD, transgenic mice expressing various APP gene products may provide new insights into the relationship between APP and beta-amyloid formation and the pathogenesis of AD. beta-amyloid accumulation in AD brain may result from interactions between APP and other molecules. 1899371 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease BEFREE The amyloid precursor protein (APP) is thought to be processed aberrantly to yield the major constituent of the amyloid plaques observed in the brains of patients with Alzheimer disease and Down syndrome. 1900367 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease BEFREE The authors' findings demonstrate that cynomolgus monkey and perhaps other primates provide a close animal model for examining the early transcriptional and post-translational processing of beta APP that precedes A beta P deposition during aging and in Alzheimer's disease. 1905108 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 Biomarker disease BEFREE Changes in the abundance of different beta-APP messenger RNAs in brains of Alzheimer's disease victims have been widely reported. 1906990 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease UNIPROT These results suggest that the Val----Ile change in the APP causes AD, regardless of ethnic background. 1908231 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE These results suggest that the Val----Ile change in the APP causes AD, regardless of ethnic background. 1908231 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE 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
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease 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