d-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 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. (Human Disease Ontology, DOID_0050575)
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Genes

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

Symbol Name Standardized Value
D2HGDH D-2-hydroxyglutarate dehydrogenase 2.84171
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble 1.48428
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial 1.47682
ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit 1.12151
GLS2 glutaminase 2 (liver, mitochondrial) 0.847898
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 0.847488
GCDH glutaryl-CoA dehydrogenase 0.80977
PHGDH phosphoglycerate dehydrogenase 0.793771
GSS glutathione synthetase 0.726929
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 0.616312
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 0.499231
GPX5 glutathione peroxidase 5 0.411283
GPX4 glutathione peroxidase 4 0.407919
GPX1 glutathione peroxidase 1 0.393001
SOD2 superoxide dismutase 2, mitochondrial 0.212945