Source: UNIPROT

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 Enzymatic characteristics of I213T mutant presenilin-1/gamma-secretase in cell models and knock-in mouse brains: familial Alzheimer disease-linked mutation impairs gamma-site cleavage of amyloid precursor protein C-terminal fragment beta. 18430735

2008
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. 17366635

2007
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. 17502474

2007
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT Ligand binding and calcium influx induce distinct ectodomain/gamma-secretase-processing pathways of EphB2 receptor. 17428795

2007
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations. 16959576

2006
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 A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. 16897084

2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40. 16752394

2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. 16628450

2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation. 16305624

2006
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 (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. 16344340

2005
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease. 15851849

2005
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 associated with Pick's disease but not beta-amyloid plaques. 15122701

2004
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 (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis. 15364419

2004
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 R278I mutation presenting with language impairment. 15534260

2004
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 highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations. 15004326

2004
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 (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis. 15534188

2004
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT Early onset familial Alzheimer's disease: Mutation frequency in 31 families. 12552037

2003
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy. 12493737

2003
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 mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances. 11796781

2002
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 new splice variant of glial fibrillary acidic protein, GFAP epsilon, interacts with the presenilin proteins. 12058025

2002
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production. 12048239

2002
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 (L174 M) in a large Cuban family with early onset Alzheimer disease. 12484344

2002
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT Molecular evidence of presenilin 1 mutation in familial early onset dementia. 11920851

2002
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. 12370477

2002
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile). 11561050

2001