DISEASES

Disease-gene associations mined from literature

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Human genes for isovaleric acidemia

Isovaleric acidemia [DOID:14753]

An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.

Synonyms:  isovaleric acidemia,  DOID:14753,  isovaleric acidemias,  Isovaleryl-CoA dehydrogenase deficiency,  isovaleric acid CoA dehydrogenase deficiency ...

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.

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