DISEASES

Disease-gene associations mined from literature

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Human genes for combined oxidative phosphorylation deficiency 32

Combined oxidative phosphorylation deficiency 32 [DOID:0111492]

A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in MRPS34 on chromosome 16p13.3.

Synonyms:  combined oxidative phosphorylation deficiency 32,  DOID:0111492,  COXPD32

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.