PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Pick Disease of the Brain ×
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 Biomarker disease GENOMICS_ENGLAND
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease CLINVAR
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 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 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 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 CausalMutation disease CLINVAR A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. 11710891 2001
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. 8910898 1996
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease CTD_human 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 UNIPROT 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 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 CausalMutation disease CLINVAR A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online. 10447269 1999
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies. 11684347 2001
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes. 9189043 1997
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 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 CausalMutation disease CLINVAR Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro. 21373759 2011
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides. 9196071 1997
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees. 17553989 2007
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 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 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 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 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 Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. 7596406 1995