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 Homozygote CHCHD10 knockout mice are viable, have no gross phenotypes, no bioenergetic defects or ultrastructural mitochondrial abnormalities in brain, heart or skeletal muscle, indicating that functional redundancy or compensatory mechanisms for CHCHD10 loss occur in vivo. 29112723 2018
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities
0.020 Biomarker disease BEFREE Our findings support the major role of CHCHD10 in the frontotemporal dementia-amyotrophic lateral sclerosis disease spectrum and stress the importance of mitochondrial abnormalities in the pathogenesis of diseases in Asian cohorts. 28318595 2017