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.