Gene: PSEN1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Mutation analysis of patients with neurodegenerative disorders using NeuroX array. 25174650 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR Presenilin/γ-secretase regulates neurexin processing at synapses. 21559374 2011
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Novel mutations and repeated findings of mutations in familial Alzheimer disease. 15776278 2005
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. 8634712 1995
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Disease-related mutations among Caribbean Hispanics with familial dementia. 25333068 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro. 21373759 2011
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. 9680315 1997
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees. 17553989 2007
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. 7596406 1995
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR 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 		0.800 CausalMutation disease CLINVAR Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation. 18797263 2008
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR Presenilin mutations in Alzheimer's disease. 9521418 1998
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins. 22115042 2012
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease. 25741723 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. 7550356 1995
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. 22312439 2012
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341 2017