Source: CLINVAR

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 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 CausalMutation CLINVAR PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. 29316780

2018
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 CausalMutation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801

2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease. 27793474

2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 27206484

2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain. 27100200

2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. 27777022

2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD. 27014058

2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds. 27100199

2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR 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 CausalMutation CLINVAR Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. 26923592

2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Mutation analysis of patients with neurodegenerative disorders using NeuroX array. 25174650

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 De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease. 26194182

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 APP metabolism regulates tau proteostasis in human cerebral cortex neurons. 25921538

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 Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease. 25741723

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 Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. 25471389

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 U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21. 24773620

2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Disease-related mutations among Caribbean Hispanics with familial dementia. 25333068

2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model. 24011544

2014
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 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 CausalMutation CLINVAR Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. 24880964

2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells. 24217025

2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP. 24418614

2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production. 23843529

2013