Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease. 30200536

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism. 30180983

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1. 29466804

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn. 29404783

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 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

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida. 27073747

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease. 26549787

2016

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT An atomic structure of human γ-secretase. 26280335

2015

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT G206D Mutation of Presenilin-1 Reduces Pen2 Interaction, Increases Aβ42/Aβ40 Ratio and Elevates ER Ca(2+) Accumulation. 25394380

2015

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease. 26145164

2015

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease. 24495933

2014

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease. 24582897

2014

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961

2014

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production. 23843529

2013

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes. 22529981

2012

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase. 22461631

2012

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Novel presenilin-1 Y159F sequence variant associated with early-onset Alzheimer's disease. 23123781

2012

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 22503161

2012

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease. 21335660

2011

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease. 21501661

2011

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity. 20460383

2010

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. 20164095

2010

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs. 19797784

2010

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.900 GeneticVariation UNIPROT Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques. 19667325

2009