l-2-hydroxyglutaric aciduria Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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)
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Genes

19 genes co-occuring with the disease l-2-hydroxyglutaric aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
L2HGDH L-2-hydroxyglutarate dehydrogenase 3.58986
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 1.47638
PIPOX pipecolic acid oxidase 1.42805
GLS2 glutaminase 2 (liver, mitochondrial) 1.41884
GCDH glutaryl-CoA dehydrogenase 1.17335
GZMM granzyme M (lymphocyte met-ase 1) 0.767576
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial 0.704742
GAN gigaxonin 0.679898
GSS glutathione synthetase 0.656441
CARS cysteinyl-tRNA synthetase 0.645375
PC pyruvate carboxylase 0.631205
MDH2 malate dehydrogenase 2, NAD (mitochondrial) 0.560616
LAMA2 laminin, alpha 2 0.447311
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble 0.446935
GPX5 glutathione peroxidase 5 0.346042
GPX4 glutathione peroxidase 4 0.342739
GPX1 glutathione peroxidase 1 0.328105
PHGDH phosphoglycerate dehydrogenase 0.164786
SOD2 superoxide dismutase 2, mitochondrial 0.162505