DisGeNET - a database of gene-disease associations

PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32

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:

rs28936379

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:

rs28936379

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:

rs28936379

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

GeneticVariation

UNIPROT

Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians.

24829003

2014

dbSNP:

rs28936380

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:

rs28936380

Entrez Id:	5664
Gene Symbol:	PSEN2

PSEN2

CUI:	C1847200
Disease:

ALZHEIMER DISEASE 4

0.800

GeneticVariation

UNIPROT

Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians.

24829003

2014

dbSNP:

rs28936380

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:

rs63750197

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:

rs63750197

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

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:

rs28936379

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:

rs28936380

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:

rs63750197

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

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:

rs28936379

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:

rs28936379

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:

rs28936380

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:

rs28936380

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:

rs63750197

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:

rs63750197

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

GeneticVariation

UNIPROT

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

21285369

2011