Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C565784
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Genes

1 genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
SCO2 SCO2 cytochrome c oxidase assembly protein 2.88009