Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9 		0.300 Biomarker disease CLINGEN Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105 2012
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.300 Biomarker disease CLINGEN Suppression of sdh1 mutations by the SDH1b gene of Saccharomyces cerevisiae. 9730279 1998
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.300 Biomarker disease CLINGEN A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy. 24952175 2014
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Entrez Id: 54902
Gene Symbol: TTC19
TTC19 		0.300 Biomarker disease CLINGEN TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III. 28673544 2017
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12 		0.300 Biomarker disease CLINGEN Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 21617257 2011
Entrez Id: 100131801
Gene Symbol: PET100
PET100 		0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
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: 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: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.300 Biomarker disease CLINGEN Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. 22644603 2012
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC 		0.300 Biomarker disease CLINGEN LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs. 22045337 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: 23474
Gene Symbol: ETHE1
ETHE1 		0.300 Biomarker disease CLINGEN Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. 18593870 2008
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: 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: 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: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.300 Biomarker disease CLINGEN Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation. 29506883 2018
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: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.300 Biomarker disease CLINGEN Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. 27344648 2017
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
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: 85476
Gene Symbol: GFM1
GFM1 		0.300 Biomarker disease CLINGEN The Drosophila mitochondrial translation elongation factor G1 contains a nuclear localization signal and inhibits growth and DPP signaling. 21364917 2011
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		0.300 Biomarker disease CLINGEN Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency. 9187674 1997
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3 		0.300 Biomarker disease CLINGEN Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. 24878502 2014