DisGeNET - a database of gene-disease associations

PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155

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:

rs121917809

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C3160720
Disease:

Cardiomyopathy, Dilated, 1u

0.800

GeneticVariation

UNIPROT

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

27930341

2017

dbSNP:

rs63749824

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

Preventing Alzheimer's disease and cognitive decline.

21500874

2010

dbSNP:

rs63749824

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

20298421

2010

dbSNP:

rs63749824

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

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

24829003

2014

dbSNP:

rs63749824

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

EFNS guidelines for the diagnosis and management of Alzheimer's disease.

20831773

2010

dbSNP:

rs63749836

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

Preventing Alzheimer's disease and cognitive decline.

21500874

2010

dbSNP:

rs63749836

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

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

24829003

2014

dbSNP:

rs63749836

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

20298421

2010

dbSNP:

rs63749836

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

EFNS guidelines for the diagnosis and management of Alzheimer's disease.

20831773

2010

dbSNP:

rs63749885

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

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

24829003

2014

dbSNP:

rs63749885

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

20298421

2010

dbSNP:

rs63749885

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

EFNS guidelines for the diagnosis and management of Alzheimer's disease.

20831773

2010

dbSNP:

rs63749885

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

Preventing Alzheimer's disease and cognitive decline.

21500874

2010

dbSNP:

rs63749891

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63749891

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

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

24829003

2014

dbSNP:

rs63749891

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.

11796781

2002

dbSNP:

rs63749891

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques.

19667325

2009

dbSNP:

rs63749891

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.

16305624

2006

dbSNP:

rs63749891

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.

26145164

2015

dbSNP:

rs63749891

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr.

10200054

1998

dbSNP:

rs63749891

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

EFNS guidelines for the diagnosis and management of Alzheimer's disease.

20831773

2010

dbSNP:

rs63749891

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

Preventing Alzheimer's disease and cognitive decline.

21500874

2010

dbSNP:

rs63749891

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.

12370477

2002

dbSNP:

rs63749891

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.

7651536

1995

dbSNP:

rs63749891

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C1843013
Disease:

Alzheimer disease, familial, type 3

0.800

GeneticVariation

UNIPROT

A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.

21501661

2011