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: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. 29316780 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease. 27793474 2017
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801 2017
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341 2017
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 Biomarker disease GENOMICS_ENGLAND Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. 28664294 2017
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain. 27100200 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 27206484 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. 26923592 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. 27777022 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD. 27014058 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
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
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds. 27100199 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease. 25741723 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR APP metabolism regulates tau proteostasis in human cerebral cortex neurons. 25921538 2015
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 Biomarker disease GENOMICS_ENGLAND Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Mutation analysis of patients with neurodegenerative disorders using NeuroX array. 25174650 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. 25471389 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
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
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells. 24217025 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. 24880964 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
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
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Disease-related mutations among Caribbean Hispanics with familial dementia. 25333068 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP. 24418614 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.800 CausalMutation disease CLINVAR Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model. 24011544 2014