Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.080 Biomarker phenotype BEFREE Accumulation of hyper-phosphorylated and aggregated Tau proteins is a neuropathological hallmark of Alzheimer's Disease (AD) and Tauopathies. 30665005 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.080 PosttranslationalModification phenotype BEFREE From a histopathological standpoint, the defining characteristics are intracellular aggregations of hyper-phosphorylated tau protein, known as neurofibrillary tangles (NFT), and depositions of amyloid β-peptides (Aβ) in the brain. 30149687 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.080 PosttranslationalModification phenotype BEFREE Aβ•CaSR signalling in NAHAs also drives the release of toxic hyper-phosphorylated Tau proteins in exosomes, and of nitric oxide, and VEGF-A. 28699522 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.080 PosttranslationalModification phenotype BEFREE The radiotracer, [<sup>18</sup> F]-THK-5351, is a highly selective and high-binding affinity PET imaging agent for aggregates of hyper-phosphorylated tau protein. 27859483 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.080 Biomarker phenotype BEFREE In fact GSK-3β is considered the main kinase which catalyzes the microtubule-associated protein tau hyper-phosphorylation and the neurofibrillary tangles (NFT) in vitro and in vivo, The first classes of GSK-3β inhibitors were classified as ATP-competitive and, therefore, they lack of an efficient degree of selectivity over other kinases. 28268049 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.080 Biomarker phenotype BEFREE Tau protein is involved in numerous human neurodegenerative diseases, and Tau hyper-phosphorylation has been linked to Tau aggregation and toxicity. 28711868 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.080 Biomarker phenotype BEFREE Alzheimer's disease (AD) involves loss of cholinergic neurons and Tau protein hyper-phosphorylation. 18769671 2008
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.080 GeneticVariation phenotype BEFREE We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation.Our purpose was to: (1). characterize the tremor patterns, (2). characterize the myoclonus physiology, (3). determine whether electrophysiology can detect abnormalities in asymptomatic cases. 12573870 2003