PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 Biomarker disease BEFREE As an alternative gene therapy approach for RCC that would circumvent CAR deficiency, we employed retargeting of replication-incompetent Ad vectors and replication-competent Ad viruses to alpha(v)beta 3 and alpha(v)beta 5 integrins and to the putative Ad3 receptor. 12154029 2002
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 Biomarker disease BEFREE We collected blood DNA from 120 late-onset Alzheimer's disease (AD) patients and 115 healthy matched controls and analysed the methylation levels of genes involved in amyloid-beta peptide production (PSEN1 and BACE1), in DNA methylation (DNMT1, DNMT3A and DNMT3B), and in one-carbon metabolism (MTHFR), searching for correlation with age and gender, with biomarkers of one-carbon metabolism (plasma homocysteine, and serum folate and vitamin B12 levels), and with disease status (being healthy or having AD). 26079324 2015
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation disease BEFREE To obtain in vivo information about how PS1 mutations cause AD pathology at such early ages, we characterized the neuropathological phenotype of four PS1-FAD patients from a large Colombian kindred bearing the codon 280 Glu to Ala substitution (Glu280Ala) PS1 mutation. 8837617 1996
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation disease BEFREE All mutations described in the PS-1 gene were found in early-onset Alzheimer's disease (AD) patients. 10732806 1998
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation disease BEFREE The genotypic (chi2= 0.92, df = 2, P > 0.1) and allelic (chi2 = 0.01, df = 1, P > 0.1) frequencies of the PS1 polymorphism in the late- and early-onset sporadic AD patients did not differ from those in the controls. 11129109 2000
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation disease BEFREE Several leucine>proline substitutions in other PSEN1 transmembrane helices revealed aggressive AD phenotypes. 28532645 2017
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation disease BEFREE As families AD/A and AD/B have very similar AD phenotype our observation of two mutations in functionally different domains suggest that onset age and severity of AD may not be very helpful predictors of the location of putative S182 mutations. 8634711 1995
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation disease BEFREE Moreover the average age of onset in AD patients with the PS-1 2/2 genotype is older than that in AD patients with a 1/2 genotype or with a 1/1 genotype. 9185685 1997
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation disease BEFREE Four different missense mutations of the PS-1 gene, including a novel mutation, Glu273Ala, were identified in five early onset FAD families and one missense mutation of PS-1 in one isolated AD patient. 9804121 1998
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 GeneticVariation disease BEFREE We found a brain-region-specific decrease in MAPT promoter methylation in PSEN1 AD patients. 26159201 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment. 16546171 2006
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Familial frontotemporal dementia associated with a novel presenilin-1 mutation. 12053127 2002
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia. 11094121 2000
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Alternative transcripts of presenilin-1 associated with frontotemporal dementia. 11997713 2002
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations. 16948293 2006
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease BEFREE DNA methylation was analyzed in selected regions of MAPT, APP, and PSEN1 in the frontal cortex and hippocampus of controls (n=26) and those with Alzheimer disease at Stages I to II (n=17); Alzheimer disease at Stages III to IV (n=15); Alzheimer disease at Stages V to VI (n=12); argyrophilic grain disease (n=10); frontotemporal lobar degeneration linked to tau mutations (n=6); frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions (n=4); frontotemporal lobar degeneration with motor neuron disease (n=3); Pick disease (n=3); Parkinson disease (n=8); dementia with Lewy bodies, pure form (n=5); and dementia with Lewy bodies, common form (n=15). 19606065 2009
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Alternative transcripts of presenilin-1 associated with frontotemporal dementia. 11973477 2002
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE M146L mutant PS-1 may predispose to both Pick's disease and AD by affecting multiple intracellular pathways involving tau phosphorylation and amyloid metabolism. 15622541 2005
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Some PSEN1 mutations are associated with a phenotype fulfilling the clinical criteria of frontotemporal dementia. 19276543 2009
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. 15122701 2004
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE PRESENILIN1 (PSEN1) is the major locus for mutations causing familial Alzheimer's disease (FAD) and is also mutated in Pick disease of brain, familial acne inversa and dilated cardiomyopathy. 24101600 2014