Source: ALL

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 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 Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online. 10090481

1999
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 CausalMutation CLINVAR Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1. 18580586

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 CausalMutation CLINVAR Presenilin mutations in Alzheimer's disease. 9521418

1998
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 Biomarker GENOMICS_ENGLAND Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. 28664294

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 Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile). 11561050

2001
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes. 9189043

1997
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation UNIPROT Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. 8634712

1995
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Presenilin/γ-secretase regulates neurexin processing at synapses. 21559374

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 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 Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation. 11701593

2001
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 A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease. 10439444

1999
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation CLINVAR A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease. 31153663

2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 Biomarker MGD Formation of tau inclusions in knock-in mice with familial Alzheimer disease (FAD) mutation of presenilin 1 (PS1). 16377636

2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 Biomarker BEFREE As an alternative gene therapy approach for RCC that would circumvent CAR deficiency, we employed retargeting of replication-incompetent Ad vectors and replication-competent Ad viruses to alpha(v)beta 3 and alpha(v)beta 5 integrins and to the putative Ad3 receptor. 12154029

2002
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR 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 A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease. 9833068

1998
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 C92S mutation increases abeta 42 production. 11027672

2000
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 Biomarker BEFREE We collected blood DNA from 120 late-onset Alzheimer's disease (AD) patients and 115 healthy matched controls and analysed the methylation levels of genes involved in amyloid-beta peptide production (PSEN1 and BACE1), in DNA methylation (DNMT1, DNMT3A and DNMT3B), and in one-carbon metabolism (MTHFR), searching for correlation with age and gender, with biomarkers of one-carbon metabolism (plasma homocysteine, and serum folate and vitamin B12 levels), and with disease status (being healthy or having AD). 26079324

2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease. 20145736

2010