L-2-Hydroxyglutaric Aciduria Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). (Human Disease Ontology, DOID_0050574)
External Link https://www.disgenet.org/browser/0/1/0/C1855995
Similar Terms
Downloads & Tools

Genes

1 genes associated with the disease L-2-Hydroxyglutaric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
L2HGDH L-2-hydroxyglutarate dehydrogenase