leigh syndrome Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. (Human Disease Ontology, DOID_3652)
External Link http://www.omim.org/entry/256000
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Genes

6 genes associated with the leigh syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)