Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.020 GeneticVariation group BEFREE Distinguishing clinical features included deafness and renal involvement associated with RMND1 and cardiomyopathy with AARS2 and MTO1. 25058219 2014
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.020 Biomarker group BEFREE MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy. 25506927 2014