TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Inclusion Body Myositis (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238190
Disease: Inclusion Body Myositis (disorder)
Inclusion Body Myositis (disorder) 		0.050 Biomarker disease BEFREE This is the first demonstration of the close association of TDP-43 accumulation with mitochondria in degenerating muscle fibers in IBM and this association may contribute to the development of mitochondrial dysfunction and pathological protein aggregates. 30742062 2019
CUI: C0238190
Disease: Inclusion Body Myositis (disorder)
Inclusion Body Myositis (disorder) 		0.050 Biomarker disease BEFREE Phospho-TDP-43-positive ALS and IBM samples also showed significant up-regulation of TARDBP and SQSTM1 expression. 29653597 2018
CUI: C0238190
Disease: Inclusion Body Myositis (disorder)
Inclusion Body Myositis (disorder) 		0.050 Biomarker disease BEFREE Optineurin is potentially associated with TDP-43 and involved in the pathogenesis of inclusion body myositis. 22860700 2013
CUI: C0238190
Disease: Inclusion Body Myositis (disorder)
Inclusion Body Myositis (disorder) 		0.050 Biomarker disease BEFREE TDP-43 could be one of many nucleic acid binding proteins that are abnormally present in IBM sarcoplasm. 19533646 2009
CUI: C0238190
Disease: Inclusion Body Myositis (disorder)
Inclusion Body Myositis (disorder) 		0.050 Biomarker disease LHGDN TDP-43 accumulation is common in myopathies with rimmed vacuoles. 19066918 2009