TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Mitochondrial abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.020 Biomarker disease BEFREE Inclusion body myositis (IBM) is the most common cause of primary myopathy in individuals aged 50 years and over, and is pathologically characterized by protein aggregates of p62 and mislocalized cytoplasmic TDP-43, as well as mitochondrial abnormalities in affected muscle fibers. 30742062 2019
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.020 Biomarker disease BEFREE Moreover, splicing deregulation of FUS and TDP-43 target genes as well as mitochondrial abnormalities are associated with disease-causing FUS and TDP-43 mutants. 25792726 2015