Leigh Disease Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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://ctdbase.org/detail.go?type=disease&acc=MESH:D007888
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15 genes/proteins associated with the disease Leigh Disease from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I 2.88009
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 2.88009
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 2.88009
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) 2.88009
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 2.88009
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 2.88009
DLD dihydrolipoamide dehydrogenase 2.88009
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa 2.88009
COX15 cytochrome c oxidase assembly homolog 15 (yeast) 2.88009
SURF1 surfeit 1 2.88009
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 2.88009
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 2.88009
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 2.88009
FOXRED1 FAD-dependent oxidoreductase domain containing 1 2.88009
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 2.88009