Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.800 GeneticVariation disease CLINVAR
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 GeneticVariation disease BEFREE Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies. 11914409 2002
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.800 GeneticVariation disease 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
0.800 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 GeneticVariation disease BEFREE We investigated the contribution of rare variants in seven genes of known relevance to dementias (β-amyloid precursor protein (APP), PSEN1/2, MAPT (microtubule-associated protein tau), fused in sarcoma (FUS), granulin (GRN) and TAR DNA-binding protein 43 (TDP-43)) to PD and PD plus dementia (PD+D) in a discovery sample of 376 individuals with PD and followed by the genotyping of 25 out of the 27 identified variants with a minor allele frequency <5% in 975 individuals with PD, 93 cases with Lewy body disease on neuropathological examination, 613 individuals with Alzheimer's disease (AD), 182 cases with frontotemporal dementia and 1014 general population controls. 25604855 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.800 GeneticVariation disease BEFREE We conclude that the clinical features of the Kluver-Bucy syndrome and FTD can be associated with PSEN1 mutations. 12053127 2002
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 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 The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of early-onset FTD. 23489366 2013
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
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.800 GeneticVariation disease BEFREE Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). 23885714 2013
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 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 GeneticVariation disease BEFREE 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 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 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 BEFREE We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted. 26159191 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 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 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 Biomarker disease GENOMICS_ENGLAND The genetics of Alzheimer disease. 23028126 2012