Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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 The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism. 17197420 2007
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.800 GeneticVariation disease BEFREE We also propose that PSEN1 mutations should be considered in FTD patients with no MAPT mutations. 16546171 2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.800 CausalMutation disease CLINVAR Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds. 27100199 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.800 GeneticVariation disease BEFREE Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations. 16948293 2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.800 GeneticVariation disease BEFREE Some PSEN1 mutations are associated with a phenotype fulfilling the clinical criteria of frontotemporal dementia. 19276543 2009
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
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
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 Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation. 15205973 2004
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
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
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