Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker disease CLINGEN Glial lipid droplets and neurodegeneration in a Drosophila model of complex I deficiency. 29285794 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 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 		0.630 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker disease CLINGEN Here we report the unusual clinical presentation of "Progressive External Ophthalmoplegia (PEO) plus" Leigh syndrome in three children from a consanguineous family where exome sequencing identified mutations in NDUFS8. 23430795 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker disease CLINGEN Understanding mitochondrial complex I assembly in health and disease. 21924235 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 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 		0.630 Biomarker disease CLINGEN High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker disease CLINGEN Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. 19672299 2009
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker disease CLINGEN Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. 15159508 2004
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 GeneticVariation disease BEFREE Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. 15159508 2004
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 GeneticVariation disease BEFREE Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyse Leigh syndrome mutations in the complex I core subunits PSST and TYKY. 11004438 2000
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker disease CLINGEN Cycle sequencing of amplified NDUFS8 cDNA of 20 patients with isolated enzymatic complex I deficiency revealed two compound heterozygous transitions in a patient with neuropathologically proven Leigh syndrome. 9837812 1998
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 GeneticVariation disease BEFREE Cycle sequencing of amplified NDUFS8 cDNA of 20 patients with isolated enzymatic complex I deficiency revealed two compound heterozygous transitions in a patient with neuropathologically proven Leigh syndrome. 9837812 1998
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 GeneticVariation disease CLINVAR
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.600 GeneticVariation disease UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.600 GeneticVariation disease UNIPROT Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. 15159508 2004
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.600 GeneticVariation disease UNIPROT The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812 1998
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.600 Biomarker disease GENOMICS_ENGLAND The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812 1998
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.600 CausalMutation disease CLINVAR
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN Glial lipid droplets and neurodegeneration in a Drosophila model of complex I deficiency. 29285794 2018
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 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 		0.500 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN "NDUFS8-related Complex I Deficiency Extends Phenotype from ""PEO Plus"" to Leigh Syndrome." 23430795 2013