DISEASES

Disease-gene associations mined from literature

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Human genes for D-2-hydroxyglutaric aciduria

D-2-hydroxyglutaric aciduria [DOID:0050575]

An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.

Synonyms:  D-2-hydroxyglutaric aciduria,  D2hydroxyglutaric aciduria,  DOID:0050575

Linkouts:  OMIM #1 #2

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.