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: C4748796
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4748796
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		0.600 CausalMutation disease CLINVAR
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 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 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 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 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: 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 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: 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
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 Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation. 28247337 2017
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III 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: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV 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: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V 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: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		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: 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 Accessory subunits are integral for assembly and function of human mitochondrial complex I. 27626371 2016