Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
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: 10128
Gene Symbol: LRPPRC
LRPPRC 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017
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: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
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: 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: 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: 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: 4705
Gene Symbol: NDUFA10
NDUFA10 		0.300 Biomarker disease CLINGEN NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 21150889 2011
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9 		0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC 		0.300 Biomarker disease CLINGEN LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. 26510951 2015
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: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.300 Biomarker disease CLINGEN "NDUFS8-related Complex I Deficiency Extends Phenotype from ""PEO Plus"" to Leigh Syndrome." 23430795 2013
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.300 Biomarker disease CLINGEN Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients. 28429146 2017
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.300 Biomarker disease CLINGEN A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. 17604671 2007
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.300 Biomarker disease CLINGEN A Drosophila Mitochondrial Complex I Deficiency Phenotype Array. 30972103 2019
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.300 Biomarker disease CLINGEN New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders. 25356405 2014
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: 79731
Gene Symbol: NARS2
NARS2 		0.300 Biomarker disease CLINGEN Mitochondrial DNA transcription and translation: clinical syndromes. 29980628 2018
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		0.300 Biomarker disease CLINGEN Ethylmalonic encephalopathy-report of two cases. 16376514 2006
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: 6389
Gene Symbol: SDHA
SDHA 		0.300 Biomarker disease CLINGEN SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757 2015
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.300 Biomarker disease CLINGEN Glial lipid droplets and neurodegeneration in a Drosophila model of complex I deficiency. 29285794 2018
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