DISEASES

Disease-gene associations mined from literature

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Human genes for combined oxidative phosphorylation deficiency 6

Combined oxidative phosphorylation deficiency 6 [DOID:0111502]

A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in AIFM1 on chromosome Xq26.1.

Synonyms:  combined oxidative phosphorylation deficiency 6,  DOID:0111502,  COXPD6,  Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6,  Mitochondrial encephalomyopathy due to COXPD6 ...

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.