Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease UNIPROT A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease CLINVAR A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease CLINVAR Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 Biomarker disease GENOMICS_ENGLAND Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects. 19167255 2009
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 Biomarker disease GENOMICS_ENGLAND Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease CLINVAR Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease UNIPROT Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 CausalMutation disease CLINVAR
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 Biomarker disease GENOMICS_ENGLAND