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 De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. 14705112 2004