2-hydroxyglutaric aciduria Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (Human Disease Ontology, DOID_0050573)
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Genes

26 genes co-occuring with the disease 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 3.38408
D2HGDH D-2-hydroxyglutarate dehydrogenase 2.6352
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial 1.48735
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble 1.43376
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 1.3337
PIPOX pipecolic acid oxidase 1.28566
GLS2 glutaminase 2 (liver, mitochondrial) 1.27606
GCDH glutaryl-CoA dehydrogenase 1.26168
ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit 0.911022
PC pyruvate carboxylase 0.868368
MDH2 malate dehydrogenase 2, NAD (mitochondrial) 0.812642
PHGDH phosphoglycerate dehydrogenase 0.750864
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 0.644192
GZMM granzyme M (lymphocyte met-ase 1) 0.636315
GPX5 glutathione peroxidase 5 0.584719
GPX4 glutathione peroxidase 4 0.581606
GPX1 glutathione peroxidase 1 0.565666
GAN gigaxonin 0.552075
GSS glutathione synthetase 0.529222
CARS cysteinyl-tRNA synthetase 0.518034
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 0.42364
MDH1 malate dehydrogenase 1, NAD (soluble) 0.421016
SOD2 superoxide dismutase 2, mitochondrial 0.37555
LAMA2 laminin, alpha 2 0.325916
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 0.312102
CAT catalase 0.161139