Gene table of D2HGDH : D-2-hydroxyglutarate dehydrogenase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with D2HGDH	OMIM link	Number of associated genes	genes
PS600721	D-2-HYDROXYGLUTARIC ACIDURIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	IDH2, D2HGDH

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

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

Associated GO terms for Molecular function

GO term	GO ID	GO IC
coenzyme binding	GO:0050662	4.53
(R)-2-hydroxyglutarate dehydrogenase activity	GO:0051990	9.05
flavin adenine dinucleotide binding	GO:0050660	5.41
oxidoreductase activity, acting on CH-OH group of donors	GO:0016614	4.83
organic cyclic compound binding	GO:0097159	1.05
nucleotide binding	GO:0000166	1.96
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
cofactor binding	GO:0048037	4.16
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
oxidoreductase activity	GO:0016491	3.12