DISEASES

Disease-gene associations mined from literature

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Human genes for L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria [DOID:0050574]

An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).

Synonyms:  L-2-hydroxyglutaric aciduria,  DOID:0050574,  L2hydroxyglutaric aciduria,  L-2-HYDROXYGLUTARIC ACIDEMIA,  L2HYDROXYGLUTARIC ACIDEMIA

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.