Mitochondrial myopathy with sideroblastic anemia

Disease Term Disease ID Gene Symbol Classification References Source
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
C18381032598
DNM1L Unknown — Disgenet
PUS1 Unknown
21686963
Disgenet Orphanet
YARS2 Unknown
20598274 22504945 24344687 24430573
Disgenet Orphanet
MYOPATHY WITH LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA
MESH:C536101
PUS1 Unknown — CTD
YARS2 Unknown — CTD
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
MONDO:0000863
PUS1 Causal
21686963
Disgenet
YARS2 Unknown
20598274 22504945 24344687 24430573
GWAS catalog
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
600462C4551958MONDO:0024553
PUS1 Causal
32287105 26556812 30588737 17056637 25227147
ClinVar Disgenet GWAS catalog HPO
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
613561C3150802MONDO:0013307
YARS2 Causal
20598274 30026338 23918765
ClinVar Disgenet GWAS catalog HPO
DNM1L Unknown — Disgenet
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
C4225415
ATP6 Unknown — Disgenet