Leigh Disease Gene Set

Dataset HuGE Navigator Gene-Phenotype 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)
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Genes

3 genes associated with the Leigh Disease phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-TL1 tRNA
SURF1 surfeit 1