DISEASES

Disease-gene associations mined from literature

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Human genes for combined oxidative phosphorylation deficiency 1

Combined oxidative phosphorylation deficiency 1 [DOID:0111474]

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM1 on chromosome 3q25.32.

Synonyms:  combined oxidative phosphorylation deficiency 1,  DOID:0111474,  COXPD1,  early fatal progressive hepatoencephalopathy,  hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ...

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.