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 The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. 7550356 1995
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
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. 8634712 1995
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 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 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 Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation. 9225696 1997
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. 9384602 1998
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Presenilin mutations in Alzheimer's disease. 9521418 1998
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. 9680315 1997
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 The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors. 10468510 1999
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 CausalMutation disease CLINVAR Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. 11524469 2001
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 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 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
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 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 CausalMutation disease CLINVAR Transgenic mice expressing the PS1-A246E mutation: effects on spatial learning, exploration, anxiety, and motor coordination. 12493631 2003
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