DisGeNET - a database of gene-disease associations

PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32

Disease: ALZHEIMER DISEASE 4 ×

Variant: rs63750215 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease.

26166204

2015

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

GeneticVariation

UNIPROT

Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family.

24838186

2014

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis.

24928124

2014

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

GeneticVariation

UNIPROT

Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family.

24844686

2014

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

Mutant presenilin 2 increases β-secretase activity through reactive oxygen species-dependent activation of extracellular signal-regulated kinase.

22249458

2012

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

GeneticVariation

UNIPROT

Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.

22503161

2012

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins.

22115042

2012

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

GeneticVariation

UNIPROT

Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk.

21285369

2011

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

Presenilin-2 mutation causes early amyloid accumulation and memory impairment in a transgenic mouse model of Alzheimer's disease.

21234330

2011

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

GeneticVariation

UNIPROT

Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case.

21544564

2011

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease.

20457965

2010

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

20634584

2010

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

Three-year follow-up of a patient with early-onset Alzheimer's disease with presenilin-2 N141I mutation - case report and review of the literature.

19073399

2008

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

[Familial Alzheimer's disease with presenilin 2 N141I mutation. A case report].

18833506

2008

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

GeneticVariation

UNIPROT

Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.

16959576

2006

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.

16959576

2006

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype.

16533963

2006

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

GeneticVariation

UNIPROT

Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.

16752394

2006

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.

15663477

2005

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

GeneticVariation

UNIPROT

Atypical dementia associated with a novel presenilin-2 mutation.

14681895

2003

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

GeneticVariation

UNIPROT

High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

10631141

2000

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

GeneticVariation

UNIPROT

Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.

9384602

1998

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

GeneticVariation

UNIPROT

A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease.

10732806

1998

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice.

8986743

1997

dbSNP:

rs63750215

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

CausalMutation

CLINVAR

The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue.

9050898

1997