Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.300 Biomarker disease CLINGEN Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. 10746566 2000
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.400 Biomarker disease CLINGEN A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 11528392 2001
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.300 Biomarker disease CLINGEN Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233 2001
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.300 Biomarker disease CLINGEN Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233 2001
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.300 Biomarker disease CLINGEN Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 11673586 2001
Entrez Id: 1355
Gene Symbol: COX15
COX15 		0.300 Biomarker disease CLINGEN Mitochondrial ferredoxin is required for heme A synthesis in Saccharomyces cerevisiae. 11788607 2002
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC 		0.300 Biomarker disease CLINGEN Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. 12529507 2003
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CLINGEN Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. 14765537 2003
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.300 Biomarker disease CLINGEN Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. 12928484 2003
Entrez Id: 1355
Gene Symbol: COX15
COX15 		0.300 Biomarker disease CLINGEN Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. 12474143 2003
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CLINGEN Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. 12616398 2003
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.300 Biomarker disease CLINGEN Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. 15455402 2004
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.300 Biomarker disease CLINGEN Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase. 15229189 2004
Entrez Id: 1355
Gene Symbol: COX15
COX15 		0.300 Biomarker disease CLINGEN Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. 15235026 2004
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CLINGEN Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. 14749350 2004
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.300 Biomarker disease CLINGEN Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency. 15269216 2004
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.300 Biomarker disease CLINGEN Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. 15159508 2004
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.300 Biomarker disease CLINGEN Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1. 14607829 2004
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.300 Biomarker disease CLINGEN Development and characterization of a conditional mitochondrial complex I assembly system. 14722084 2004
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.300 Biomarker disease CLINGEN Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.300 Biomarker disease CLINGEN SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I. 15293270 2004
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.300 Biomarker disease CLINGEN Disruption of mitochondrial function during apoptosis is mediated by caspase cleavage of the p75 subunit of complex I of the electron transport chain. 15186778 2004
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.300 Biomarker disease CLINGEN Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1. 16083427 2005
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		0.300 Biomarker disease CLINGEN Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. 15877282 2005
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		0.300 Biomarker disease CLINGEN Ethylmalonic encephalopathy-report of two cases. 16376514 2006