DISEASES

Disease-gene associations mined from literature

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Human genes for pyruvate decarboxylase deficiency

Pyruvate decarboxylase deficiency [DOID:3649]

A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.

Synonyms:  pyruvate decarboxylase deficiency,  DOID:3649,  pyruvate decarboxylase deficiencies,  deficiency of pyruvic dehydrogenase,  pyruvate dehydrogenase complex deficiency disease ...

Linkouts:  OMIM

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.