DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency

Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency [DOID:0050713]

A mitochondrial metabolism disease that has_material_basis_in a deficiency of cytochrome c oxidase.

Synonyms:  fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency,  DOID:0050713,  cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency,  fatal infantile COX deficiency,  fatal infantile cytochrome C oxidase deficiency ...

Linkouts:  OMIM

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Albert Pallejà, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.