DISEASES

Disease-gene associations mined from literature

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Human genes for combined oxidative phosphorylation deficiency 3

Combined oxidative phosphorylation deficiency 3 [DOID:0111486]

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TSFM on chromosome 12q14.1.

Synonyms:  combined oxidative phosphorylation deficiency 3,  DOID:0111486,  concentric cardiomyopathy, hypotonia, and lactic acidosis,  COXPD3,  encephalomyopathy, respiratory failure, and lactic acidosis ...

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.