Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 GeneticVariation phenotype BEFREE These results suggest that phenotypes for onset and rate of cognitive decline vary with PSEN1 and APP genes, suggesting a behavioral heterogeneity in ADAD. 31386938 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 GeneticVariation phenotype BEFREE The second case had a PSEN1 M233V mutation with an earlier age of onset of 25 with cognitive decline, parkinsonism, and epilepsy. 30814350 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 GeneticVariation phenotype BEFREE Mutations in the presenilin 1 (PS1) gene are a major trigger of familial Alzheimer's disease (AD), yet the mechanisms affected by mutated PS1 causing cognitive decline are not yet elucidated. 31467635 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 Biomarker phenotype BEFREE In an Alzheimer's model using 5×FAD mice, intake of the WY peptide also suppressed microglial inflammation and accumulation of Aβ, which improved cognitive decline. 31121563 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 GeneticVariation phenotype BEFREE Here, we report a 37-year-old male Korean patient carrying a PSEN1 p.Gly417Ala mutation with exceptionally early and severe presentations, including a wide range of atypical symptoms of rapid cognitive decline with a stooped posture, rigidity, and bradykinesia. 30180983 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 GeneticVariation phenotype BEFREE Reversal of high fat diet-induced obesity improves glucose tolerance, inflammatory response, β-amyloid accumulation and cognitive decline in the APP/PSEN1 mouse model of Alzheimer's disease. 28108292 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 Biomarker phenotype BEFREE In this study, we investigated the effect of T4 on cognitive decline and synaptic plasticity in five times familial AD (5XFAD) mice co-expressing mutated amyloid precursor protein and presenilin-1. 25661995 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 GeneticVariation phenotype BEFREE The PSEN1 F177S mutation leads to typical AD starting at age 30 and a homogeneous phenotype with rapid cognitive decline and prominent neurological symptoms. 23850332 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 GeneticVariation phenotype BEFREE Presenilin 1 (PSEN1) gene mutations deterministic for Alzheimer's disease (AD) are associated with marked heterogeneity in clinical phenotype, with behavioral and psychiatric features, parkinsonism, myoclonus, epileptic seizures, spastic paraparesis, frontal behavioral changes suggestive of the phenotype of frontotemporal dementia, aphasia, and cerebellar ataxia being described as well as cognitive decline. 23948899 2013
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 GeneticVariation phenotype BEFREE This is the first report of PSEN1 mutation (Gly206Asp) with features of seizure and a rapid progressive cognitive decline in a pathologically confirmed case of FAD. 21335660 2011
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 Biomarker phenotype BEFREE In this review we present how studies using PS1 transgenic mice have raised new questions related to pathological mechanisms of AD and are useful models for the study of (1) progressive cognitive decline, (2) early-occurring synaptic dysfunction, and (3) mechanisms other than amyloidogenesis that can be involved in disease pathogenesis. 21086758 2010
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 GeneticVariation phenotype BEFREE PSEN1 polymorphisms alter the rate of cognitive decline in sporadic Alzheimer's disease patients. 18403054 2009
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 GeneticVariation phenotype BEFREE Cognitive decline in patients with familial Alzheimer's disease associated with E280a presenilin-1 mutation: a longitudinal study. 10923058 2000
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 AlteredExpression phenotype BEFREE The observation that PS-1 and PS-2 are highly expressed in neurons, localized to the endoplasmic reticulum, suggests that the presenilins could regulate neuronal K+ channel expression; mutations in PS-1/PS-2 would then be expected to result in profound changes in neuronal excitability and contribute to the cognitive decline commonly associated with Alzheimer's Disease. 9666479 1998
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 GeneticVariation phenotype CLINVAR
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.200 CausalMutation phenotype CLINVAR