DISEASES

Disease-gene associations mined from literature

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Human genes for combined oxidative phosphorylation deficiency 5

Combined oxidative phosphorylation deficiency 5 [DOID:0111473]

A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonaemia that has_material_basis_in homozygous or compound heterozygous mutation in MRPS22 on chromosome 3q23.

Synonyms:  combined oxidative phosphorylation deficiency 5,  DOID:0111473,  COXPD5,  hypotonia with lactic acidemia and hyperammonemia,  hypotonia with lactic acidemia and hyperammonemias

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.