Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 GermlineCausalMutation disease ORPHANET Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. 16492986 2006
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 GermlineCausalMutation disease ORPHANET Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. 10775530 2000