DISEASES

Disease-gene associations mined from literature

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Human genes for mitochondrial complex V (ATP synthase) deficiency

Mitochondrial complex V (ATP synthase) deficiency [DOID:0111143]

A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex.

Synonyms:  mitochondrial complex V (ATP synthase) deficiency,  DOID:0111143,  mitochondrial complex V ATP synthase 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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.