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 Transgenic mice expressing the PS1-A246E mutation: effects on spatial learning, exploration, anxiety, and motor coordination. 12493631 2003
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 GeneticVariation disease BEFREE Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recently have been associated with familial FTD albeit without neuropathological confirmation. 15122701 2004
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation. 15205973 2004
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 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 Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. 16628450 2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 GeneticVariation disease BEFREE We also propose that PSEN1 mutations should be considered in FTD patients with no MAPT mutations. 16546171 2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 GeneticVariation disease BEFREE Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations. 16948293 2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 GeneticVariation disease BEFREE Mutations in presenilin-1 (PSEN1) cause autosomal dominant Alzheimer's disease and mutations in MAPT cause the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17). 17071927 2006
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 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 Dual roles of the transmembrane protein p23/TMP21 in the modulation of amyloid precursor protein metabolism. 17288597 2007
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism. 17197420 2007
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 GeneticVariation disease BEFREE Some PSEN1 mutations are associated with a phenotype fulfilling the clinical criteria of frontotemporal dementia. 19276543 2009
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 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 Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes. 20634584 2010
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 GeneticVariation disease BEFREE PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype. 21297264 2011
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 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 Biomarker disease BEFREE The 3 × Tg-AD mouse simultaneously expresses 3 rare familial mutant genes that in humans independently produce devastating amyloid-β protein precursor (AβPP), presenilin-1, and frontotemporal dementias; hence, technically speaking, these mice are not a model of sporadic AD, but are informative in assessing co-evolving amyloid and tau pathologies. 21860086 2011
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 GeneticVariation disease BEFREE Wnt effectors were tightly clustered with presenilin1 (PSEN1) and granulin (GRN), which cause dominantly inherited forms of Alzheimer's disease and frontotemporal dementia (FTD), respectively. 21971039 2011
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 GeneticVariation disease BEFREE Genetic testing confirmed the absence of mutations in the presenilin 1 gene in 1 patient; subsequent testing revealed the R406W tau mutation in both individuals leading to a diagnosis of frontotemporal dementia [F]FDDNP retention broadly correlated with CSF levels of t-tau and p-tau. 20683187 2011