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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Large and rare copy number variants (CNVs) are known to confer risk in several related disorders including Alzheimer's disease (at APP), schizophrenia, epilepsy, mental retardation, and autism. 25726360 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE To address the latter, we generated APP transgenic mice expressing the E693Delta mutation, which causes AD by enhanced Abeta oligomerization without fibrillization. 20371804 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE The proband carried an APP missense variant in homozygous state (NM_000484.4: c.2032G>A; NP_000475.1: rs63750064" genes_norm="351">p.Asp678Asn; rs63750064) and showed a more severe clinical picture than the other AD relatives, as regards the age of onset and the rate of disease progression. 31578030 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE We now know of the existence of at least three AD loci on chromosomes 14, 19, and 21 and are beginning to understand the role that one of these loci, APP, and its mutations plays in the progression of AD. 8215975 1993
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Here we present studies of a pathogenic amyloid precursor protein (APP) mutation, located within the Abeta sequence at codon 693 (E693G), that causes AD in a Swedish family. 11528419 2001
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE γ-Secretase is a multi-subunit membrane protease complex that catalyses the final intramembrane cleavage of the β-amyloid precursor protein (APP) during the neuronal production of amyloid-β peptides (Aβ), which are implicated as the causative agents of Alzheimer's disease (AD). 26811537 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE In persons with or at-risk for AD due to fully-penetrant autosomal dominant mutations in the PSEN1 and APP genes, the diagnosis or future development of AD can be predicted with essentially 100% accuracy. 20047059 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia. 11568920 2001
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Screening for amyloid beta precursor protein codon 665, 670/671 and 717 mutations in Finnish patients with Alzheimer's disease. 8867023 1996
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE We examined the brains of 12-month-old singly and doubly transgenic mice overexpressing mutant amyloid precursor protein (APP(swe)) and/or presenilin-1 (PS1(M146L)) to investigate the effects of these AD-related genes on plaque and tangle pathology, astrocytic expression, and the CBF projection system. 11476589 2001
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Neurons from mutant hiPSC lines express PSEN1-A246E mutations themselves and show AD-like biochemical features, that is, amyloidogenic processing of amyloid precursor protein (APP) indicated by an increase in β-amyloid (Aβ)42/Aβ40 ratio. 25027006 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Because gene dosage effects of the APP gene can cause genetic AD, dysregulation of the miRNA network could contribute significantly to disease. 21062284 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Aβ peptides, generated by processing of the Amyloid Precursor Protein (APP), are thought to play a central role in the pathogenesis of AD. 21829458 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE We recently demonstrated that overexpression of ADAM10 in mice transgenic for human AbetaPP (ADAM10 x APP[V717I]) alleviated functional deficits related to Alzheimer's disease. 19221420 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE The aim is to characterize genetic variability in the APP gene within its upstream regulatory region and to determine whether that variability is associated with AD and affects the expression of APP. 15659808 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Accumulation of amyloid-beta (Aβ) peptides is regarded as the critical component associated with AD pathogenesis, which is derived from the amyloid precursor protein (APP) cleavage. 24368087 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE The clinical picture, with age at disease onset in the sixth to seventh decade of life and dysfunction in multiple cognitive areas, is indicative of Alzheimer disease and similar to the phenotype for other Alzheimer disease APP mutations. 18413473 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Progressive and gender-dependent cognitive impairment in the APP(SW) transgenic mouse model for Alzheimer's disease. 10513583 1999
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Amyloid plaques, composed mainly by a peptide termed A4-amyloid, derived by proteolytic processing from the amyloid precursor protein (APP), are a hallmark in the brain of Alzheimer's disease patients. 7537106 1995
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE The membrane protease γ-secretase cleaves the C99 fragment of the amyloid precursor protein, thus producing the Aβ peptides central to Alzheimer's disease. 30910800 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Dermal fibroblasts were obtained from a 55 year old male Сaucasian familial Alzheimer's disease (AD) patient carrying heterozygous V717I mutation in the APP gene. 30851551 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease LHGDN 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE The present study was designed to use contextual fear conditioning to compare the changes in memory formation and subsequent reconsolidation processes in transgenic mice that overexpress human APP and PS1 harboring five familial AD mutations (5XFAD model). 19435612 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Pathway analysis implicates immunity, lipid metabolism, tau binding proteins, and amyloid precursor protein (APP) metabolism, showing that genetic variants affecting APP and Aβ processing are associated not only with early-onset autosomal dominant Alzheimer's disease but also with LOAD. 30820047 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation disease BEFREE Because 50% of AD cases have no APOE epsilon4 alleles and families showing mendelian inheritance of AD exist in whom there are no mutations in any of the APP, PS1, or PS2 genes, it is likely that there are additional AD risk factors, both genetic and environmental, still to be identified. 9052714 1997