TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration
0.050 GeneticVariation disease BEFREE She was found to have multiple pathological processes: corticobasal degeneration (CBD), Alzheimer's disease (AD), and TAR DNA-binding protein (TDP)-43 type A. 31033382 2019
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration
0.050 Biomarker 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
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration
0.050 GeneticVariation disease BEFREE TDP-43 pathological changes, of the kind seen in many elderly individuals with Alzheimer's disease, were seen in only two FTLD-tau cases--a 70-year-old male with exon 10 + 13 mutation in MAPT, and a 73-year-old female with corticobasal degeneration. 24861427 2014
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration
0.050 Biomarker disease BEFREE Of the FTLD cases with DPR, 6 showed TDP-43 type A and 6 had TDP-43 type B histology; one had FTLD-tau with the pathology of corticobasal degeneration. 24252525 2013
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration
0.050 GeneticVariation disease BEFREE However, the most common clinical syndrome (behavioural variant frontotemporal dementia) was pathologically heterogeneous; while pathologically proven Pick's disease and corticobasal degeneration were clinically heterogeneous, and TDP-43 type A pathology was associated with similar clinical features in cases with and without progranulin mutations. 21908872 2011