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 Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 22503161 2012
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 Biomarker disease 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 		0.800 Biomarker disease 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 		0.800 Biomarker disease GENOMICS_ENGLAND The genetics of Alzheimer disease. 23028126 2012
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 GeneticVariation disease UNIPROT The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia. 11094121 2000
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 Biomarker disease HPO
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 Biomarker disease CTD_human The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia. 11094121 2000
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 GeneticVariation disease CLINVAR
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