Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 84340
Gene Symbol: GFM2
GFM2 		0.300 Biomarker disease CLINGEN Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. 29075935 2017
Entrez Id: 85476
Gene Symbol: GFM1
GFM1 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.300 Biomarker disease CLINGEN Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles. 28683319 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		0.300 Biomarker disease CLINGEN Loss of succinyl-CoA synthase ADP-forming β subunit disrupts mtDNA stability and mitochondrial dynamics in neurons. 28769029 2017
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		0.300 Biomarker disease CLINGEN Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. 27913098 2017
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: 100303755
Gene Symbol: PET117
PET117 		0.300 Biomarker disease CLINGEN Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. 28386624 2017
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: 4705
Gene Symbol: NDUFA10
NDUFA10 		0.300 Biomarker disease CLINGEN Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation. 28247337 2017
Entrez Id: 100303755
Gene Symbol: PET117
PET117 		0.300 Biomarker disease CLINGEN The Assembly Factor Pet117 Couples Heme a Synthase Activity to Cytochrome Oxidase Assembly. 27998984 2017
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		0.300 Biomarker disease CLINGEN AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome. 28753212 2017
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		0.300 Biomarker disease CLINGEN Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency. 28918066 2017
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		0.300 Biomarker disease CLINGEN Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine. 27830356 2017
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1 		0.300 Biomarker disease CLINGEN Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. 27484306 2016
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3 		0.300 Biomarker disease CLINGEN Treatment of genetic defects of thiamine transport and metabolism. 27191787 2016
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
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 Structure of mammalian respiratory complex I. 27509854 2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.300 Biomarker disease CLINGEN High-throughput discovery of novel developmental phenotypes. 27626380 2016
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.300 Biomarker disease CLINGEN A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. 26553276 2016
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.300 Biomarker disease CLINGEN Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy. 27549011 2016