DISEASES

Disease-gene associations mined from literature

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Human genes for cytochrome-c oxidase deficiency disease

Cytochrome-c oxidase deficiency disease [DOID:3762]

A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.

Synonyms:  cytochrome-c oxidase deficiency disease,  cytochromec oxidase deficiency disease,  cytochrome-c oxidase deficiency disorder,  cytochrome-c oxidase deficiency syndrome,  cytochrome-c oxidase deficiency diseases ...

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, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.