ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225415
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 		0.400 GeneticVariation disease UNIPROT Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. 25037980 2014
CUI: C4225415
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 		0.400 CausalMutation disease CLINVAR