MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.090 Biomarker disease BEFREE In advanced CTE, hyperphosphorylated tau protein deposits are found in widespread regions of brain, however the mechanisms of the progressive neurodegeneration in CTE are not fully understood. 31308796 2019
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.090 Biomarker disease BEFREE <b>Introduction</b>: Chronic Traumatic Encephalopathy (CTE) is a neuropathological disease defined by perivascular hyperphosphorylated tau protein depositions in a patchy distribution at the depths of cortical sulci in the brain. 31215252 2019
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.090 Biomarker disease BEFREE Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease characterized by the presence of abnormally phosphorylated tau protein in the depths of one or more cortical sulci. 30223396 2018
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.090 Biomarker disease BEFREE The histopathology of CTE is defined by the deposition of hyperphosphorylated tau protein in neurons and astrocytes preferentially with perivascular distribution and at the depths of the cortical sulci. 30563563 2018
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.090 PosttranslationalModification disease BEFREE To investigate whether chronic traumatic encephalopathy (CTE) and CTE with amyotrophic lateral sclerosis (CTE-ALS) exhibit features previously observed in other tauopathies of pathologic phosphorylation of microtubule-associated protein tau at Thr<sup>175</sup> (pThr<sup>175</sup> tau) and Thr<sup>231</sup> (pThr<sup>231</sup> tau), and glycogen synthase kinase-3β (GSK3β) activation, and whether these pathologic features are a consequence of traumatic brain injury (TBI). 29298849 2018
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.090 Biomarker disease BEFREE The hallmarks of CTE are abnormal accumulation of phosphorylated tau protein, TDP-43 immunoreactive neuronal cytoplasmic inclusions, and astroglial abnormalities, but the pathomechanism leading to these terminal findings remains unknown. 28937952 2017
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.090 Biomarker disease BEFREE We discuss the neuropathology underlying CTE including the creation and aggregation of phosphorylated tau protein into neurofibrillary tangles and the formation of amyloid beta deposits. 28234788 2017
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.090 Biomarker disease BEFREE All 3 early tau markers (ie, TNT1, TOC1, and pS422) were present in CTE and displayed extensive colocalization in perivascular tau lesions that are considered diagnostic for CTE. 26671985 2016
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.090 GeneticVariation disease BEFREE There were no significant differences in genetic variants for those with CTE pathology, but we observed a slight increase in MAPT H1 haplotype, and there tended to be fewer homozygous carriers of the protective TMEM106B rs3173615 minor allele in those with sports exposure and CTE pathology compared to those without CTE pathology. 26518018 2015