DISEASES

Disease-gene associations mined from literature

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Human genes for combined oxidative phosphorylation deficiency 10

Combined oxidative phosphorylation deficiency 10 [DOID:0111480]

A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in MTO1 on chromosome 6q13.

Synonyms:  combined oxidative phosphorylation deficiency 10,  DOID:0111480,  COXPD10,  infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis,  mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ...

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.