Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE However, the PSEN-1 E318G variant has an unclear pathogenic role and is recently reported as a genetic risk factor for AD. 30381075

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Mutations in PS1 have been shown to cause early-onset inherited forms of Alzheimer's disease (AD) by a gain-of-function mechanism that alters proteolytic processing of the amyloid precursor protein (APP) resulting in increased production of neurotoxic forms of amyloid beta-peptide. 11494322

2001

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE The rare familial mutations in APP and presenilin-1/2, which sometimes drive increased amyloid β (Aβ) production, may have unduly influenced Alzheimer's disease research. 30471088

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE This suggests that the frequency of mutations in the PS-1 (S182) coding region in "sporadic" Alzheimer's disease in very low. 8627338

1996

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE In order to study the anti-inflammatory properties of ibuprofen independent of its anti-amyloidogenic activity, we performed a long-term treatment study with ibuprofen in 5XFAD mice expressing a presenilin-1 mutation that renders this AD model resistant to γ-secretase modulation. 21943956

2012

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE The Alzheimer's Prevention Initiative Colombia Trial is a collaborative project involving the Neurosciences Group of Antioquia, Genentech/Roche, and the Banner Alzheimer's Institute, studying whether crenezumab can delay or prevent the clinical onset of Alzheimer's disease in cognitively unimpaired individuals who carry the <i>PSEN1 E280A</i> mutation. 30090848

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression. 20158511

2010

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE More than 100 missense mutations in presenilin 1 and 2 are associated with early-onset dominant Alzheimer disease. 17268504

2007

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Here, we studied the accumulation of Aβ, toxic turn Aβ and high-molecular-weight Aβ oligomers in presenilin 1 (PS1) gene-transfected SH-SY5Y cells as well as in the brains of 3xTg-AD mice and AD patients. 22950910

2013

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation. 11701593

2001

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Although PSEN1 mutations are "deterministic" for Alzheimer's disease, they are associated with marked heterogeneity in the clinical expression of neurological features. 19221408

2009

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Moreover, blockade of gap junction hemichannel also significantly improved memory impairments without altering amyloid β deposition in double transgenic mice expressing human amyloid precursor protein with K595N and M596L mutations and presenilin 1 with A264E mutation as an Alzheimer's disease mouse model. 21712989

2011

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE An 1H-MRS framework predicts the onset of Alzheimer's disease symptoms in PSEN1 mutation carriers. 24239247

2014

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE We report a presenilin-1 mutation (T245P) in a Japanese-American family with autosomal dominant Alzheimer's disease with an onset age in the early 40s. 16469444

2006

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE The following observations suggest that such activity may play a similar role in humans with AD: (1) patients with sporadic AD have an increased incidence of seizures that appears to be independent of disease stage and highest in cases with early onset; (2) seizures are part of the natural history of many pedigrees with autosomal dominant early-onset AD, including those with mutations in presenilin-1, presenilin-2, or the amyloid precursor protein, or with duplications of wild-type amyloid precursor protein; (3) inheritance of the major known genetic risk factor for AD, apolipoprotein E4, is associated with subclinical epileptiform activity in carriers without dementia; and (4) some cases of episodic amnestic wandering and disorientation in AD are associated with epileptiform activity and can be prevented with antiepileptic drugs. 19204149

2009

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Recent studies suggest that mutations in the presenilin 1 gene, which encodes a polypeptide predicted to be a multispanning membrane protein, are responsible for the majority of cases of early onset, autosomal dominant Alzheimer's disease. 8910898

1996

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Frontal Variant of Alzheimer's Disease: A Report of a Novel PSEN1 Mutation. 31177233

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Enhanced accumulation of phosphorylated alpha-synuclein and elevated beta-amyloid 42/40 ratio caused by expression of the presenilin-1 deltaT440 mutant associated with familial Lewy body disease and variant Alzheimer's disease. 18045903

2007

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Three causal genes have been identified in which mutations cause familial presenile AD: the amyloid precursor protein gene and the presenilin 1 and 2 genes. 11005793

2000

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Homozygosity for the 'T' allele of a polymorphism in the presenilin 1 gene has previously been reported to double the risk for Alzheimer's disease in a late onset Caucasian sample. 9218645

1997

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE To model amyloid deposition in AD, we generated a new mouse line based on the presence of two copies of the genomic region encoding human wild-type AβPP as well as a mutation (L166P) in the murine Psen1. 22874668

2013

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE The mechanism whereby mutations in the presenilin-1 (PS-1) gene on chromosome 14 cause early-onset inherited Alzheimer's disease are unknown. 10369213

1999

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Furthermore, synaptic dysfunction was observed in a cellular model of AD that overexpressed mutant PS1. 26687948

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1. 27345792

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Our study suggests that a polymorphism/mutation in the promoter or regulatory region of PSEN1 rather than the polymorphism in intron 8 of PSEN1 is associated with early onset AD. 10573013

2000