Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.200 Biomarker disease MGD TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD. 29556029 2018
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
0.200 Biomarker disease MGD The FTD-like syndrome causing TREM2 T66M mutation impairs microglia function, brain perfusion, and glucose metabolism. 28559417 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.040 GeneticVariation disease BEFREE We investigated microglial activation with [(11)C]DAA1106 positron emission tomography (PET), striatal dopaminergic function with l-[beta-(11)C]dopa PET, acetylcholinesterase (AChE) activity with [(11)C]N-methylpiperidin-4-yl acetate PET, and morphologic brain changes with MRI in three persons (aged 38-41 years) with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), who were presymptomatic gene carriers (PGCs) from an American kindred with pallidopontonigral degeneration. 20452812 2010
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.040 GeneticVariation disease BEFREE Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation). 17196872 2007
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.040 GeneticVariation disease BEFREE Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family. 12056930 2002
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.040 GeneticVariation disease BEFREE Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17. 12492138 2002
Entrez Id: 43
Gene Symbol: ACHE
ACHE
0.010 GeneticVariation disease BEFREE We investigated microglial activation with [(11)C]DAA1106 positron emission tomography (PET), striatal dopaminergic function with l-[beta-(11)C]dopa PET, acetylcholinesterase (AChE) activity with [(11)C]N-methylpiperidin-4-yl acetate PET, and morphologic brain changes with MRI in three persons (aged 38-41 years) with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), who were presymptomatic gene carriers (PGCs) from an American kindred with pallidopontonigral degeneration. 20452812 2010