Disease table of D-2-HYDROXYGLUTARIC ACIDURIA OMIM ID: PS600721

Gene-disease associations table

GeneAssociated with D-2-HYDROXYGLUTARIC ACIDURIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
IDH2OMIM, HUMSAVARHGNC link15q26.12PS137800, PS600721
D2HGDHClinVar, OMIM, HUMSAVARHGNC link2q37.31PS600721

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
The citric acid (TCA) cycle and respiratory electron transportR-HSA-14285175.712D2HGDH, IDH2
Pyruvate metabolism and Citric Acid (TCA) cycleR-HSA-714067.562D2HGDH, IDH2
MetabolismR-HSA-14307282.342D2HGDH, IDH2

NET-GE enrichment

Term New enriched termICP valueGenes
The citric acid (TCA) cycle and respiratory electron transport (R-HSA-1428517) -5.710.002D2HGDH, IDH2
Pyruvate metabolism and Citric Acid (TCA) cycle (R-HSA-71406) -7.560.0D2HGDH, IDH2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
coenzyme binding (GO:0050662) 4.532D2HGDH, IDH2
oxidoreductase activity, acting on CH-OH group of donors (GO:0016614) 4.832D2HGDH, IDH2
organic cyclic compound binding (GO:0097159) 1.052D2HGDH, IDH2
nucleotide binding (GO:0000166) 1.962D2HGDH, IDH2
small molecule binding (GO:0036094) 1.892D2HGDH, IDH2
catalytic activity (GO:0003824) 1.052D2HGDH, IDH2
cofactor binding (GO:0048037) 4.162D2HGDH, IDH2
binding (GO:0005488) 0.182D2HGDH, IDH2
heterocyclic compound binding (GO:1901363) 1.062D2HGDH, IDH2
nucleoside phosphate binding (GO:1901265) 1.962D2HGDH, IDH2
oxidoreductase activity (GO:0016491) 3.122D2HGDH, IDH2

NET-GE enrichment

Term New enriched termICP valueGenes
coenzyme binding (GO:0050662) -4.530.003D2HGDH, IDH2
oxidoreductase activity, acting on CH-OH group of donors (GO:0016614) -4.830.004D2HGDH, IDH2
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616) NEW5.00.001D2HGDH, IDH2
cofactor binding (GO:0048037) -4.160.006D2HGDH, IDH2
oxidoreductase activity (GO:0016491) -3.120.049D2HGDH, IDH2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
dicarboxylic acid metabolic process (GO:0043648) 5.32D2HGDH, IDH2
single-organism metabolic process (GO:0044710) 1.632D2HGDH, IDH2
2-oxoglutarate metabolic process (GO:0006103) 6.782D2HGDH, IDH2
organic acid metabolic process (GO:0006082) 3.012D2HGDH, IDH2
primary metabolic process (GO:0044238) 0.692D2HGDH, IDH2
cellular metabolic process (GO:0044237) 0.692D2HGDH, IDH2
cellular process (GO:0009987) 0.262D2HGDH, IDH2
oxidation-reduction process (GO:0055114) 2.912D2HGDH, IDH2
carboxylic acid metabolic process (GO:0019752) 3.122D2HGDH, IDH2
organic substance metabolic process (GO:0071704) 0.632D2HGDH, IDH2
single-organism cellular process (GO:0044763) 0.652D2HGDH, IDH2
small molecule metabolic process (GO:0044281) 2.382D2HGDH, IDH2
metabolic process (GO:0008152) 0.582D2HGDH, IDH2
oxoacid metabolic process (GO:0043436) 3.122D2HGDH, IDH2
single-organism process (GO:0044699) 0.482D2HGDH, IDH2

NET-GE enrichment

Term New enriched termICP valueGenes
dicarboxylic acid metabolic process (GO:0043648) -5.30.004D2HGDH, IDH2
2-oxoglutarate metabolic process (GO:0006103) -6.780.0D2HGDH, IDH2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62D2HGDH, IDH2
organelle lumen (GO:0043233) 3.052D2HGDH, IDH2
cell part (GO:0044464) 0.112D2HGDH, IDH2
cytoplasmic part (GO:0044444) 0.822D2HGDH, IDH2
mitochondrion (GO:0005739) 2.422D2HGDH, IDH2
intracellular organelle part (GO:0044446) 0.812D2HGDH, IDH2
intracellular organelle lumen (GO:0070013) 3.052D2HGDH, IDH2
intracellular organelle (GO:0043229) 0.512D2HGDH, IDH2
membrane-enclosed lumen (GO:0031974) 3.052D2HGDH, IDH2
mitochondrial matrix (GO:0005759) 4.032D2HGDH, IDH2
intracellular part (GO:0044424) 0.282D2HGDH, IDH2
membrane-bounded organelle (GO:0043227) 0.472D2HGDH, IDH2
organelle (GO:0043226) 0.42D2HGDH, IDH2
organelle part (GO:0044422) 0.792D2HGDH, IDH2
mitochondrial part (GO:0044429) 2.922D2HGDH, IDH2

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial matrix (GO:0005759) -4.030.017D2HGDH, IDH2
intracellular organelle lumen (GO:0070013) -3.050.025D2HGDH, IDH2
membrane-enclosed lumen (GO:0031974) -3.050.036D2HGDH, IDH2
organelle lumen (GO:0043233) -3.050.03D2HGDH, IDH2