Gene: PSEN1 ×
Source: ALL
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 Biomarker disease HPO
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. 8634712 1995
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. 7596406 1995
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		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
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. 8910898 1996
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		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
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		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
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		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
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes. 9189043 1997
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Presenilin mutations in Alzheimer's disease. 9521418 1998
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		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
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		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
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		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
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 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 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 CausalMutation disease CLINVAR A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies. 11684347 2001
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. 11710891 2001
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. 11524469 2001
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 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 AlteredExpression disease BEFREE Our results suggest that alternative transcription of PS1 may be associated with FTD. 11997713 2002
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 AlteredExpression disease BEFREE Our results suggest that alternative transcription of PS1 may be associated with FTD. 11973477 2002