APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease BEFREE Even though the idea that amyloid beta peptide accumulation is the primary event in the pathogenesis of Alzheimer's disease has become the leading hypothesis, the causal link between aberrant amyloid precursor protein processing and tau alterations in this type of dementia remains controversial. 16125396 2005
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease BEFREE Transmembrane proteins BRI2 and amyloid precursor protein (APP) co-localize with amyloid beta (Abeta) lesions in sporadic Alzheimer disease and mutations in both precursor proteins are linked to early-onset familial cases of cerebral amyloidosis associated with dementia and/or cerebral hemorrhage. 16027166 2005
CUI: C0497327
Disease: Dementia
Dementia
0.700 Biomarker disease BEFREE The pathology of Alzheimer's disease (AD) shows a significant correlation between beta-amyloid peptide (betaAP) deposition and the clinical severity of dementia. 15755621 2005
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease BEFREE Even though the idea that amyloid beta peptide accumulation is the primary event in the pathogenesis of Alzheimer's disease has become the leading hypothesis, the causal link between aberrant amyloid precursor protein and tau alterations in this type of dementia remains controversial. 16677790 2006
CUI: C0497327
Disease: Dementia
Dementia
0.700 AlteredExpression disease BEFREE Down's syndrome patients develop dementia similar to Alzheimer's disease and show elevated levels of amyloid precursor protein in brain. 16815323 2006
CUI: C0497327
Disease: Dementia
Dementia
0.700 Biomarker disease LHGDN Biochemical staging of synucleinopathy and amyloid deposition in dementia with Lewy bodies. 16651889 2006
CUI: C0497327
Disease: Dementia
Dementia
0.700 Biomarker disease BEFREE Variation in the presenilin gene shifts the cleavage site of amyloid precursor protein producing an insoluble peptide Abeta(42) (instead of Abeta(40), which is soluble when produced in restricted amount), which is prone to aggregation in the brain in the form of amyloid plaques not only in Alzheimer's disease (AD) but also in other degenerative dementias. 17627113 2007
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease BEFREE During the last 20 years, an expanding body of research has elucidated the central role of amyloid precursor protein (APP) processing and amyloid beta peptide (Abeta) production in the risk, onset, and progression of the neurodegenerative disorder Alzheimer's disease (AD), the most common form of dementia. 17716740 2007
CUI: C0497327
Disease: Dementia
Dementia
0.700 Biomarker disease LHGDN Validation of amyloid-beta peptides in CSF diagnosis of neurodegenerative dementias. 17339876 2007
CUI: C0497327
Disease: Dementia
Dementia
0.700 Biomarker disease LHGDN APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage. 17442758 2007
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease BEFREE Mutations in genes directly associated with the amyloid cascade (APP, PS1, PS2) are only present in less than 5% of the AD population; however, the presence of the APOE-4 allele in the apolipoprotein E (APOE) gene represents a major risk factor for more than 40% of patients with dementia. 18344047 2008
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease LHGDN A new amyloid beta variant favoring oligomerization in Alzheimer's-type dementia. 18300294 2008
CUI: C0497327
Disease: Dementia
Dementia
0.700 AlteredExpression disease LHGDN Plasma amyloid beta-protein and C-reactive protein in relation to the rate of progression of Alzheimer disease. 18541797 2008
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease BEFREE The E693Delta mutation within the amyloid precursor protein (APP) has been suggested to cause dementia via the enhanced formation of synaptotoxic amyloid beta (Abeta) oligomers. 19164507 2009
CUI: C0497327
Disease: Dementia
Dementia
0.700 Biomarker disease LHGDN Association between progranulin and beta-amyloid in dementia with Lewy bodies. 18955727 2009
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease BEFREE Amyloid precursor protein (APP) has been implicated in the pathogenesis of Alzheimer disease, and the accumulation of APP products ultimately leads to the familiar histopathological and clinical manifestations associated with this most common form of dementia. 20225047 2010
CUI: C0497327
Disease: Dementia
Dementia
0.700 Biomarker disease BEFREE Effect of early intervention with extract of Huannao Yicong Decoction (还脑益聪方) on the pathologic picture of hippocampus and neurocyte apoptosis in APP transgenic mice model of dementia. 21660677 2011
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease BEFREE The Arctic APP mutation (E693G) leads to dementia with clinical features similar to Alzheimer disease (AD), but little is known about the pathogenic mechanism of this mutation. 19329229 2011
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease BEFREE Overexpression of DSCAM in Down syndrome (DS) may be involved in the pathogenesis of mental retardation through an inhibitory action on synaptogenesis/neurite outgrowth, and in the precocious dementia associated with an amyloid precursor protein (APP) dosage effect with enhanced plaque formation. 21241773 2011
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease BEFREE Here, we describe a novel missense mutation in the amyloid precursor protein (APP) causing a lysine-to-asparagine substitution at position 687 (APP770; herein, referred to as K16N according to amyloid-β (Aβ) numbering) resulting in an early onset dementia with an autosomal dominant inheritance pattern. 22514144 2012
CUI: C0497327
Disease: Dementia
Dementia
0.700 Biomarker disease GENOMICS_ENGLAND In order to assess the frequency of mutations in the known Alzheimer's disease causative genes in Turkish dementia patients we screened amyloid precursor protein (APP), PSEN1 and PSEN2 for mutations in a cohort of 98 Turkish dementia families. 22503161 2012
CUI: C0497327
Disease: Dementia
Dementia
0.700 Biomarker disease CTD_human Genetic studies show that a simple duplication of the Aβ precursor (APP) gene, as occurs in Down syndrome (trisomy 21), with a 1.5-fold increase in expression, can cause dementia with the complete AD associated neuropathology. 22300406 2012
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease BEFREE Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. 21193246 2012
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease BEFREE We found a novel APP mutation (A673V) in the homozygous state in a patient with early-onset AD-type dementia and in his younger sister showing initial signs of cognitive decline. 22727994 2012
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation disease BEFREE The Arctic APP mutation (E693G) within the amyloid β (Aβ) domain of amyloid precursor protein (APP) leads to dementia with clinical features similar to Alzheimer's disease (AD), which is believed to be mediated via increased formation of protofibrils. 21880397 2012