Disease ID | Disease name | Source of annotation with L2HGDH | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
236792 | L-2-HYDROXYGLUTARIC ACIDURIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | L2HGDH |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Butanoate metabolism | hsa00650 | 7.96 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism | R-HSA-1430728 | 2.34 |
Pyruvate metabolism and Citric Acid (TCA) cycle | R-HSA-71406 | 7.56 |
Interconversion of 2-oxoglutarate and 2-hydroxyglutarate | R-HSA-880009 | 11.4 |
The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 |
GO term | GO ID | GO IC |
---|---|---|
catalytic activity | GO:0003824 | 1.05 |
2-hydroxyglutarate dehydrogenase activity | GO:0047545 | 9.74 |
oxidoreductase activity, acting on CH-OH group of donors | GO:0016614 | 4.83 |
oxidoreductase activity | GO:0016491 | 3.12 |