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 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 AlteredExpression disease BEFREE Our results suggest that alternative transcription of PS1 may be associated with FTD. 11997713 2002
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 AlteredExpression disease BEFREE Our results suggest that alternative transcription of PS1 may be associated with FTD. 11973477 2002
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease. 20145736 2010
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase. 22461631 2012
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling. 20484632 2010
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins. 17545141 2007
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 27206484 2016
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