Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748767
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 		0.600 GeneticVariation disease UNIPROT Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews. 19259137 2009
CUI: C4748767
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 		0.600 GeneticVariation disease UNIPROT NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. 15372108 2004
CUI: C4748767
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 		0.600 CausalMutation disease CLINVAR
CUI: C4748767
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 		0.600 Biomarker disease GENOMICS_ENGLAND