Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748839
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		0.600 Biomarker disease GENOMICS_ENGLAND NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 29429571 2018
CUI: C4748839
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		0.600 GeneticVariation disease UNIPROT NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 29429571 2018
CUI: C4748839
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		0.600 Biomarker disease GENOMICS_ENGLAND New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
CUI: C4748839
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		0.600 CausalMutation disease CLINVAR