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 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 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 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 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 GeneticVariation BEFREE We found a brain-region-specific decrease in MAPT promoter methylation in PSEN1 AD patients. 26159201

2015
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 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891

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 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 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 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 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 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 CausalMutation CLINVAR 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 CausalMutation CLINVAR Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementia. 23114514

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 Biomarker GENOMICS_ENGLAND The genetics of Alzheimer disease. 23028126

2012
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 CausalMutation CLINVAR Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation. 22766738

2012
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 disease presenilin-1 mutations alter the active site conformation of γ-secretase. 22461631

2012