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 Mitochondrial dysfunction in the APP/PSEN1 mouse model of Alzheimer's disease and a novel protective role for ascorbate. 28863942

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker BEFREE Alzheimer's disease (AD) is characterized by accumulation of the β-amyloid peptide (Aβ), which is generated through sequential proteolysis of the amyloid precursor protein (APP), first by the action of β-secretase, generating the β-C-terminal fragment (βCTF), and then by the Presenilin 1 (PS1) enzyme in the γ-secretase complex, generating Aβ. 28533411

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE PSEN1 gene polymorphisms in Caucasian Alzheimer's disease: A meta-analysis. 28821390

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker BEFREE Previous studies have identified mutations in several genes, such as amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2), in patients with early-onset (<65years) familial AD. 29156377

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Mutations in APP, PSEN1, and PSEN2 lead to early-onset Alzheimer disease (EOAD) but account for only approximately 11% of EOAD overall, leaving most of the genetic risk for the most severe form of Alzheimer disease unexplained. 28738127

2017

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE We identified the novel PSEN1 pathogenic mutation M84V in 3 patients belonging to a large kindred affected by autosomal dominant Alzheimer's disease (AD). 28532646

2017

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Very early-onset sporadic Alzheimer's disease with a de novo mutation in the PSEN1 gene. 28131463

2017

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Most cases of Alzheimer's disease (AD) are sporadic, but a small percentage of AD cases, called familial AD (FAD), are associated with mutations in presenilin 1, presenilin 2, or the amyloid precursor protein. 28049728

2017

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Characterizing familial corticobasal syndrome due to Alzheimer's disease pathology and PSEN1 mutations. 27743520

2017

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 We have sequenced the complete genomes of 72 individuals affected with early-onset familial Alzheimer's disease caused by an autosomal dominant, highly penetrant mutation in the presenilin-1 (PSEN1) gene, and performed genome-wide association testing to identify variants that modify age at onset (AAO) of Alzheimer's disease. 26324103

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE White Matter Abnormalities Track Disease Progression in PSEN1 Autosomal Dominant Alzheimer's Disease. 26923015

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 AlteredExpression BEFREE Expression of PS1M146V in astrocytes impairs vesicle dynamics and reduces evoked secretion of the signaling molecule ANP; both may contribute to the development of AD. 26462451

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 AlteredExpression BEFREE The modeling of Alzheimer's disease by the overexpression of mutant Presenilin 1 in human embryonic stem cells. 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 M146I mutation in PSEN1. 27345998

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 27206484

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 AlteredExpression BEFREE Inhibitory effect of chloroquine derivatives on presenilin 1 and ubiquilin 1 expression in Alzheimer's disease. 26261684

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Our findings confirm the role of the PS1 Thr147Ile substitution in Alzheimer's disease and expand the clinical phenotype to include expressive aphasia and very early onset of dementia. 25812849

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE The autosomal dominant Alzheimer's disease participants belonged to families with known mutations in either presenilin 1 (PSEN1) or amyloid precursor protein (APPswe or APParc) genes. 26813969

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Loss of stability and hydrophobicity of presenilin 1 mutations causing Alzheimer's disease. 26756738

2016

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

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Whereas most AD cases are sporadic, some are caused by mutations in early-onset familial AD (FAD) genes. 26455952

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Taking into account that most of familial AD-connected mutations in PS1 are loss-of-function, the observed effects may well be general for familial AD. 26678016

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 an A79V mutation in PSEN1. 27345973

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker BEFREE Interestingly, this region shows a dynamic pattern in the content of mitochondrial 5-methylcytosine in amyloid precursor protein/presenilin 1 mice along with Alzheimer disease pathology progression (3, 6, and 12 months of age). 26776077

2016