Disease Term Disease ID Gene Symbol Classification References Source
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 C4551958 PUS1 Causal Pathogenic evidence from ClinVar 15108122, 16959974, 19731322, 21686963, 25227147, 26556812, 27604308 ClinVar
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 C3150802 YARS2 Causal Pathogenic evidence from ClinVar 20598274, 22504945, 23918765, 24344687, 24430573, 26633545, 27604308, 30026338 ClinVar
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 C4225415 ATP6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25037980 -