Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		0.300 Biomarker disease CTD_human Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. 26099313 2015
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		0.300 Biomarker disease CTD_human ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 25125611 2014
Entrez Id: 51204
Gene Symbol: TACO1
TACO1 		0.300 Biomarker disease CTD_human Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089 2009
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.300 Biomarker disease CTD_human Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency. 16765830 2006
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.300 Biomarker disease CTD_human Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CTD_human A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. 11181577 2001
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.300 Biomarker disease CTD_human
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.300 Biomarker disease CTD_human
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.300 Biomarker disease CTD_human
Entrez Id: 1355
Gene Symbol: COX15
COX15 		0.300 Biomarker disease CTD_human