Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.800 GeneticVariation disease CLINVAR
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 CausalMutation disease CLINVAR
Entrez Id: 348
Gene Symbol: APOE
APOE
0.100 Biomarker disease BEFREE The fact that Pick disease is often familial, and the evidence suggesting that the epsilon 4 allele of apolipoprotein E (ApoE) is a risk factor for AD and possibly other dementias, prompted us to study ApoE isoforms in Pick disease. 7498406 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 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 Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. 8634712 1995
Entrez Id: 348
Gene Symbol: APOE
APOE
0.100 GeneticVariation disease BEFREE These two subjects, both homozygous for the APOE-epsilon4 allele, were primarily diagnosed as having Creutzfeldt-Jakob disease and Pick's disease in the absence of significant neocortical amyloid deposition. 8669492 1996
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 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 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: 3064
Gene Symbol: HTT
HTT
0.020 Biomarker disease BEFREE Huntingtin is found in areas of the brain that degenerate in this disease but is also associated with pathogenic inclusions in Alzheimer disease and Pick disease. 9211185 1997
Entrez Id: 348
Gene Symbol: APOE
APOE
0.100 Biomarker disease BEFREE Apolipoprotein-E genotyping in Alzheimer's disease and frontotemporal dementia. 9213069 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: 1152
Gene Symbol: CKB
CKB
0.010 AlteredExpression disease BEFREE The decreased level of BCK in AD and PD brains might be caused by posttranscriptional events, which could affect the translation of BCK mRNA and/or lead to the inactivation and degradation of the enzyme. 9270056 1997
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 Presenilin mutations in Alzheimer's disease. 9521418 1998
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 Biomarker disease CTD_human Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's disease. 9641683 1998
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 Biomarker disease BEFREE Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's disease. 9641683 1998
Entrez Id: 9001
Gene Symbol: HAP1
HAP1
0.010 GeneticVariation disease BEFREE We have mapped its murine homolog, Hap1, to mouse Chr 11 (band D), which shares extensive synteny with human Chr 17 including the region 17q21-q22, where the gene for 'frontotemporal dementia and parkinsonism linked to chromosome 17' has bee mapped. 9657855 1998
Entrez Id: 348
Gene Symbol: APOE
APOE
0.100 GeneticVariation disease BEFREE The apolipoprotein E epsilon4 allele is not a significant risk factor for frontotemporal dementia. 9667603 1998
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: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. 9736786 1998
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE Filamentous tau pathology is also central to a number of other dementing disorders, such as Pick's disease, progressive supranuclear palsy, corticobasal degeneration and familial frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17). 9786340 1998