Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748796
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		0.600 GeneticVariation disease UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
CUI: C4748796
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		0.600 GeneticVariation disease UNIPROT NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 21150889 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 GeneticVariation disease BEFREE NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 21150889 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 GeneticVariation group BEFREE Since deficiencies of the mitochondrial complex I are the most common defects in the oxidative phosphorylation system, further studies are required to study the difference between the activities of the two Ndufa10 variants, and their role in the pathogenesis of hypertension. 26648553 2016
CUI: C4748796
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease GENOMICS_ENGLAND NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 21150889 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease CLINGEN Here, we present an additional description of a child with Leigh syndrome harboring a homozygous mutation in NDUFA10, providing insights in clinical, biochemical, and neuroradiologic features for future earlier recognition. 28247337 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease CLINGEN Accessory subunits are integral for assembly and function of human mitochondrial complex I. 27626371 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease CLINGEN Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease GENOMICS_ENGLAND A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease CLINGEN NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 21150889 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease GENOMICS_ENGLAND Here, we present an additional description of a child with Leigh syndrome harboring a homozygous mutation in NDUFA10, providing insights in clinical, biochemical, and neuroradiologic features for future earlier recognition. 28247337 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease GENOMICS_ENGLAND A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994 2012
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Accessory subunits are integral for assembly and function of human mitochondrial complex I. 27626371 2016
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 21150889 2011
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation. 28247337 2017
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 21150889 2011