Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.050 Biomarker disease BEFREE In addition to hyperphosphorylated tau, other pathologic proteins are deposited in CTE, including amyloid β (Aβ), transactive response (TAR) DNA-binding protein 43 kDa (TDP-43) and α-synuclein. 30563563 2018
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.050 Biomarker disease BEFREE These findings suggest that a trauma-induced increase in TDP-43 phosphorylation contributes to defective neuronal integrity, and that increasing TSP-1 levels may represent a useful therapeutic approach for the prevention of the neuronal TDP-43 proteinopathy associated with CTE. 27735996 2017
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.050 Biomarker disease BEFREE Phosphorylation of tau, microglial activation, TAR DNA-binding protein 43 and diffuse axonal injury have all been implicated in the pathogenesis of CTE. 28347679 2017
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.050 GeneticVariation disease BEFREE Four cases had pathologically confirmed CTE; concomitant pathologies included Alzheimer's disease (N = 6), TDP-43 (N = 6), cerebral amyloid angiopathy (N = 5), hippocampal sclerosis (N = 2), corticobasal degeneration (N = 1), dementia with Lewy bodies (N = 1), and vascular pathology (N = 1); and all would have contributed synergistically to the clinical manifestations. 28205009 2017
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.050 GeneticVariation disease BEFREE The TDP-43 proteinopathy associated with CTE is similar to that found in frontotemporal lobar degeneration with TDP-43 inclusions, in that widespread regions of the brain are affected. 20720505 2010