Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE Presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP) genes account for the majority of autosomal dominant Alzheimer's disease (AD), with PSEN1 being the most common. 31235344

2020

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker BEFREE The gene mutations in the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are the frequent causes of AD. 30549411

2019

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE Neuropathologic and molecular studies in brains of carriers of the PSEN1 p.A396T mutation or other PSEN1 or PSEN2 mutations associated with the coexistence of DLBD and AD are needed to clarify whether tau and α-synuclein proteinopathies occur independently or whether a relationship exists between α-synuclein and tau that might explain the mechanisms of coaggregation. 31165862

2019

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE Many mutations in the amyloid precursor protein (APP) and presenilin 1 and 2 (PSEN1 and PSEN2) have been reported as the pathogenic causes of early-onset AD (EOAD), which accounts for up to 5% of all AD cases. 31182772

2019

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE Alternative splicing in a presenilin 2 variant associated with Alzheimer disease. 31020001

2019

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE Mutations in the genes PSEN1, PSEN2 or APP are known to cause familial forms of AD with an early age of onset. 30634129

2019

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker BEFREE Differentially acetylated peaks were enriched in disease-related biological pathways and included regions annotated to genes involved in the progression of amyloid-β and tau pathology (for example, APP, PSEN1, PSEN2, and MAPT), as well as regions containing variants associated with sporadic late-onset AD. 30349106

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE Zebrafish possess an orthologous gene, psen2, and present opportunities for investigation of PRESENILIN function related to Alzheimer's disease. 30359395

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE Future functional studies are needed to evaluate the role of PSEN2 p.His169Asn mutation in AD disease progression. 30104866

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE Our studies indicate that the familial AD mutation PSEN2 <sup>N141I</sup> does not induce neuronal insulin resistance in a cell autonomous fashion. 29945658

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker BEFREE Brain carriers of pathogenic mutations in APP, PSEN1, or PSEN2 presented lower neuron and higher astrocyte relative proportions compared to sporadic AD. 29880032

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE Besides familial mutations on the AβPP gene, or upon its overexpression, familial forms of AD are often caused by mutations or deletions in presenilin 1 (PSEN1) and 2 (PSEN2) genes: the catalytic components of the proteolytic enzyme γ-secretase (GS). 29103038

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE <b>Conclusions:</b> Pathogenic mutations in the Alzheimer disease-causing genes (<i>PSEN1</i> and <i>PSEN2)</i> are found in sporadic PD patients. 29692703

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE To analyze the FTD genes in the DNA samples of patients belonging to families clinically classified as probable Alzheimer's disease (FAD) in the early 1990s and not carrying mutation in the three main genes linked to FAD (Presenilin 1, Presenilin 2, and Amyloid precursor protein). 29614680

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE Variants in APP, PSEN1 and PSEN2 are typically linked to early-onset AD, and several genetic risk loci are associated with late-onset AD. 29476165

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE Our previous studies have shown that sequence-specific RNA-binding of HMGA1a induces exon-skipping of Presenilin-2 exon 5 in sporadic Alzheimer disease. 29678492

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE The Dominantly Inherited Alzheimer Network (DIAN) is an international observational study of APP, PSEN1, and PSEN2 mutation carriers with the goal of determining the sequence of changes in presymptomatic mutation carriers who are destined to develop Alzheimer disease. 30045758

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker BEFREE Today, the AD&FTD Mutation Database provides curated, referenced information of 764 genetic variants in APP, PSEN1, and PSEN2 associated with AD and GRN, C9orf72, TBK1, MAPT, VCP, CHMP2B, TARDBP, and FUS associated with FTD and related diseases. 29956270

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker BEFREE These results suggest that the interaction between DREAM and PS2 may represent a new target for modulation of PS2 processing, which could have therapeutic potential in Alzheimer's disease (AD) treatment. 30559648

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker BEFREE The two presenilin-1 (PS1) and presenilin-2 (PS2) homologs are the catalytic core of the γ-secretase complex, which has a major role in cell fate decision and Alzheimer's disease (AD) progression. 28994238

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE Genetically, the first clues were provided by genetic linkage studies that led to the identification of APP, PSEN1, and PSEN2 mutations as the main causes of autosomal-dominant early-onset AD. 29478590

2018

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation BEFREE Thus, the present data suggest that PS2 mutations suppress lung tumor development by inhibiting the iPLA2 activity of PRDX6 via a γ-secretase cleavage mechanism and may explain the inverse relationship between cancer and AD incidence. 29109765

2017

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker BEFREE The intramembrane proteolytic activities of presenilins (PSEN1/PS1 and PSEN2/PS2) underlie production of β-amyloid, the key process in Alzheimer's disease (AD). 29137240

2017

Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 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: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker 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