DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for combined oxidative phosphorylation deficiency 2

Combined oxidative phosphorylation deficiency 2 [DOID:0111483]

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2.

Synonyms:  combined oxidative phosphorylation deficiency 2,  DOID:0111483,  agenesis of corpus callosum with dysmorphism and fatal lactic acidosis,  COXPD2,  agenesis of corpus callosum with dysmorphism and fatal lactic acidosises

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.