DISEASES

Disease-gene associations mined from literature

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Human genes for combined oxidative phosphorylation deficiency 16

Combined oxidative phosphorylation deficiency 16 [DOID:0111469]

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in MRPL44 on chromosome 2q36.1.

Synonyms:  combined oxidative phosphorylation deficiency 16,  DOID:0111469,  COXPD16,  infantile hypertrophic cardiomyopathy due to MRPL44 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.