DISEASES

Disease-gene associations mined from literature

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Human genes for COX deficiency, infantile mitochondrial myopathy

COX deficiency, infantile mitochondrial myopathy [DOID:0050713]

A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.

Synonyms:  COX deficiency, infantile mitochondrial myopathy,  COX deficiency infantile mitochondrial myopathy,  DOID:0050713,  infantile mitochondrial myopathy COX deficiency,  cardioencephalomyopathy, fatal infantile, due to 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, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.