Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0497327
Disease: Dementia
Dementia
0.200 Biomarker LHGDN Dementia developed in 3 family members in this kindred at a mean age of 27 years; the proband had myoclonus, seizures, and rigidity, similar to findings in previously described kindreds with PSEN1 mutations. 16344340

2005

Entrez Id: 5444
Gene Symbol: PON1
PON1
CUI: C0497327
Disease: Dementia
Dementia
0.060 GeneticVariation LHGDN Paraoxonase 1 gene polymorphisms and dementia in humans. 15016430

2004

Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation LHGDN APP is an important locus predicting the age at onset of dementia in people with Down syndrome. 15184603

2004

Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3
CUI: C0497327
Disease: Dementia
Dementia
0.020 Biomarker LHGDN EAAT1 parameters were mutually correlated (p<0.01) and correlations were shown with dementia severity (p<0.05 MMSE-expression, p<0.005 MMSE-mRNA). 15718040

2005

Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
CUI: C0497327
Disease: Dementia
Dementia
0.190 GeneticVariation LHGDN CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. 16941655

2006

Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0497327
Disease: Dementia
Dementia
0.700 Biomarker LHGDN APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage. 17442758

2007

Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation LHGDN PGRN mutations at 17q21 may occur in apparently sporadic frontotemporal lobar dementia with ubiquitinated inclusions cases and in cases presenting with either primary progressive aphasia or the behavioral variant of frontotemporal dementia. 17522386

2007

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0497327
Disease: Dementia
Dementia
0.200 Biomarker LHGDN Apolipoprotein E affects both myelin breakdown and cognition: implications for age-related trajectories of decline into dementia. 17659264

2007

Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C0497327
Disease: Dementia
Dementia
0.200 Biomarker LHGDN SNCA dosage is responsible for parkinsonism, autonomic dysfunction, and dementia observed within each family. 18571778

2008

Entrez Id: 3350
Gene Symbol: HTR1A
HTR1A
CUI: C0497327
Disease: Dementia
Dementia
0.010 Biomarker LHGDN A 5-HT(1A) antagonist adjuvant may improve treatment of depression in dementia. 18841018

2008

Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0497327
Disease: Dementia
Dementia
0.700 GeneticVariation LHGDN A new amyloid beta variant favoring oligomerization in Alzheimer's-type dementia. 18300294

2008

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation LHGDN A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings. 19010951

2008

Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation LHGDN A novel MAPT mutation (P301T) associated with familial frontotemporal dementia. 17662000

2007

Entrez Id: 6400
Gene Symbol: SEL1L
SEL1L
CUI: C0497327
Disease: Dementia
Dementia
0.010 GeneticVariation LHGDN A novel polymorphism in SEL1L confers susceptibility to Alzheimer's disease. 16412574

2006

Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation LHGDN A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. 17439980

2007

Entrez Id: 57338
Gene Symbol: JPH3
JPH3
CUI: C0497327
Disease: Dementia
Dementia
0.120 Biomarker LHGDN A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features. 17708569

2007

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0497327
Disease: Dementia
Dementia
0.120 GeneticVariation LHGDN Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene. 17662307

2007

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0497327
Disease: Dementia
Dementia
0.160 GeneticVariation LHGDN Age-dependent cognitive changes in carriers of the fragile X syndrome. 18472033

2008

Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C0497327
Disease: Dementia
Dementia
0.200 AlteredExpression LHGDN Alpha-synuclein overexpression model. 17017543

2006

Entrez Id: 5655
Gene Symbol: KLK10
KLK10
CUI: C0497327
Disease: Dementia
Dementia
0.010 Biomarker LHGDN Altered kallikrein 7 and 10 concentrations in cerebrospinal fluid of patients with Alzheimer's disease and frontotemporal dementia. 14972646

2004

Entrez Id: 5650
Gene Symbol: KLK7
KLK7
CUI: C0497327
Disease: Dementia
Dementia
0.010 Biomarker LHGDN Altered kallikrein 7 and 10 concentrations in cerebrospinal fluid of patients with Alzheimer's disease and frontotemporal dementia. 14972646

2004

Entrez Id: 5649
Gene Symbol: RELN
RELN
CUI: C0497327
Disease: Dementia
Dementia
0.020 AlteredExpression LHGDN Altered levels of cerebrospinal fluid reelin in frontotemporal dementia and Alzheimer's disease. 12645087

2003

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0497327
Disease: Dementia
Dementia
0.200 GeneticVariation LHGDN Alternative transcripts of presenilin-1 associated with frontotemporal dementia. 11973477

2002

Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation LHGDN Although rare, a tau-related dementia with mutations in the microtubule-associated protein tau gene (MAPT) has been identified in patients showing clinical presentations similar to those of AD. 18587238

2008

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0497327
Disease: Dementia
Dementia
0.200 Biomarker LHGDN Apolipoprotein E epsilon 4 allele is associated with increased atrophy in progressive mild cognitive impairment: a voxel-based morphometric study. 18322386

2008