PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer Disease, Late Onset ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE 40 cognitively normal volunteers from a Colombian population with familial AD were included; 18 were positive for the AD-associated presenilin 1 mutation (carriers, mean age=38) whereas 22 were non-carriers. 23134660 2013
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Presenilin-1 2/2 genotype is a risk factor for late onset Alzheimer disease in the Spanish population, and probably, for Europeans. 17719017 2007
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease. 9121726 1997
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation. 28269784 2017
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease. 31153663 2020
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 Biomarker disease CTD_human A presenilin-1 mutation renders neurons vulnerable to isoflurane toxicity. 18227305 2008
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 PosttranslationalModification disease BEFREE Additionally, we found that some genes that participate in amyloid-beta processing (PSEN1, APOE) and methylation homeostasis (MTHFR, DNMT1) show a significant interindividual epigenetic variability, which may contribute to LOAD predisposition. 18628954 2008
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 Biomarker disease CTD_human APP/PS1 transgenic mice treated with aluminum: an update of Alzheimer's disease model. 22507317 2012
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 Biomarker disease CTD_human Beta-amyloid mediated nitration of manganese superoxide dismutase: implication for oxidative stress in a APPNLH/NLH X PS-1P264L/P264L double knock-in mouse model of Alzheimer's disease. 16651627 2006
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 Biomarker disease CTD_human Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. 7596406 1995
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. 17366635 2007
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Failure to detect missense mutations in the S182 gene in a series of late-onset Alzheimer's disease cases. 8848249 1995
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 Biomarker disease BEFREE Female and male transgenic AD model mice expressing APPswe/PSEN1ΔE9 require Pyk2 for age-dependent loss of synaptic markers and for impairment of learning and memory. 30518596 2019
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 Biomarker disease CTD_human Generation of Abeta38 and Abeta42 is independently and differentially affected by familial Alzheimer disease-associated presenilin mutations and gamma-secretase modulation. 17962197 2008
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Homozygosity of allele 1 of a presenilin 1 intron 8 polymorphism (PS1-1) has been associated with doubling of the risk of sporadic late-onset Alzheimer disease (LOAD), in some, but not all studies. 10815136 2000
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Homozygosity of the 1 allele in the PS-1 gene was associated with a doubling of the risk for late-onset Alzheimer's disease compared with the [12]/[22] genotype (odds ratio 1.97, 95% Cl 1.29-3.00). 8596269 1996
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Homozygosity of the G allele in IE1 and 1/1 genotype in PS-1 was associated with a doubling of risk for late-onset AD, and odds ratios were 2.223 and 2.066, respectively. 11775232 2000
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 Biomarker disease BEFREE However, one of the two forms of the mRNA for PS-1, the long form (which contains a sequence encoding a four amino acid (VRSQ) insert at its 5' end) was significantly reduced in early onset FAD brain compared with late onset AD. 8910899 1996
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 Biomarker disease CTD_human Identification of the key molecules involved in chronic copper exposure-aggravated memory impairment in transgenic mice of Alzheimer's disease using proteomic analysis. 25352456 2015
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE In summary, we found an association between presenilin 1 intronic polymorphism and LOAD, but no influence of APOE epsilon4 on the distribution of the PS1 intronic polymorphism. 16938285 2006
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 Biomarker disease CTD_human Insensitivity to Abeta42-lowering nonsteroidal anti-inflammatory drugs and gamma-secretase inhibitors is common among aggressive presenilin-1 mutations. 17573346 2007
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Lack of association between an intronic polymorphism in the presenilin-1 gene and sporadic late-onset Alzheimer disease in Polish patients. 9622000 1998
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Late-onset AD may be associated with deterministic PS1 mutations; these should be sought when the family history suggests autosomal dominant disease transmission. 17188713 2007
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Mutations or upregulation in presenilin 1 (PS1) gene are found in familial early-onset Alzheimer's disease or sporadic late-onset Alzheimer's disease, respectively. 28753475 2017
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease. 11030797 2000