Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.300 Biomarker disease CLINGEN Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia. 30090137 2019
Entrez Id: 55037
Gene Symbol: PTCD3
PTCD3 		0.300 Biomarker disease CLINGEN Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. 30607703 2019
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.300 Biomarker disease CLINGEN A Drosophila Mitochondrial Complex I Deficiency Phenotype Array. 30972103 2019
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.300 Biomarker disease CLINGEN A Drosophila Mitochondrial Complex I Deficiency Phenotype Array. 30972103 2019
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.300 Biomarker disease CLINGEN Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency. 31065540 2019
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.300 Biomarker disease CLINGEN FOXRED1 silencing in mice: a possible animal model for Leigh syndrome. 30392038 2019
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: 79731
Gene Symbol: NARS2
NARS2 		0.300 Biomarker disease CLINGEN Mitochondrial DNA transcription and translation: clinical syndromes. 29980628 2018
Entrez Id: 54902
Gene Symbol: TTC19
TTC19 		0.300 Biomarker disease CLINGEN Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype. 29961508 2018
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2 		0.300 Biomarker disease CLINGEN Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy. 28857146 2018
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: 8802
Gene Symbol: SUCLG1
SUCLG1 		0.300 Biomarker disease CLINGEN Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. 29217198 2018
Entrez Id: 55699
Gene Symbol: IARS2
IARS2 		0.300 Biomarker disease CLINGEN Mitochondrial DNA transcription and translation: clinical syndromes. 29980628 2018
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: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.300 Biomarker disease CLINGEN Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. 29976978 2018
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CLINGEN Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model. 29590638 2018
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.300 Biomarker disease CLINGEN A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9 		0.300 Biomarker disease CLINGEN NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. 28671271 2018
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: 6834
Gene Symbol: SURF1
SURF1 		0.300 Biomarker disease CLINGEN SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences. 29933018 2018
Entrez Id: 55699
Gene Symbol: IARS2
IARS2 		0.300 Biomarker disease CLINGEN Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome. 30041933 2018
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: 10128
Gene Symbol: LRPPRC
LRPPRC 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 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: 10667
Gene Symbol: FARS2
FARS2 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017