|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase. (Human Disease Ontology, DOID_0050713)|
|Downloads & Tools|
1 genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.
|SCO2||SCO2 cytochrome c oxidase assembly protein||2.88009|