Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		0.300 Biomarker disease CLINGEN Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. 20002461 2010
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: 55699
Gene Symbol: IARS2
IARS2 		0.300 Biomarker disease CLINGEN Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. 25130867 2014
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.300 Biomarker disease CLINGEN Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 10545952 1999
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.300 Biomarker disease CLINGEN Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex. 10508156 1999
Entrez Id: 79731
Gene Symbol: NARS2
NARS2 		0.300 Biomarker disease CLINGEN Mitochondrial DNA transcription and translation: clinical syndromes. 29980628 2018
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.300 Biomarker disease CLINGEN cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. 9878551 1998
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3 		0.300 Biomarker disease CLINGEN Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. 27896110 2014
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		0.300 Biomarker disease CLINGEN Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. 19136963 2009
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1 		0.300 Biomarker disease CLINGEN Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. 17668387 2007
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.300 Biomarker disease CLINGEN Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. 23334465 2013
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC 		0.300 Biomarker disease CLINGEN The Human Protein Atlas--a tool for pathology. 18853439 2008
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		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
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: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.300 Biomarker disease CLINGEN cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. 9878551 1998
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		0.300 Biomarker disease CLINGEN Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. 26475597 2016
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.300 Biomarker disease CLINGEN SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype. 29601977 2018
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.300 Biomarker disease CLINGEN Early complex I assembly defects result in rapid turnover of the ND1 subunit. 22653752 2012
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		0.300 Biomarker disease CLINGEN A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. 23010432 2012
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.300 Biomarker disease CLINGEN Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD. 30429455 2018
Entrez Id: 85476
Gene Symbol: GFM1
GFM1 		0.300 Biomarker disease CLINGEN Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. 17160893 2007
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.300 Biomarker disease CLINGEN Cytochrome c oxidase deficiency in neurons decreases both oxidative stress and amyloid formation in a mouse model of Alzheimer's disease. 17715058 2007
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CLINGEN A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population. 27671926 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		0.300 Biomarker disease CLINGEN SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. 17301081 2007