2-hydroxyglutaric aciduria

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This is a group of related diseases. The table below shows the contents of its 3 subtypes.
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Pathways column key: KEGG Reactome
Disease terms Disease ID Gene Symbol Classification References Source Pathways
  • Combined D-2-HYDROXYGLUTARIC aciduria and L-2-HYDROXYGLUTARIC aciduria
  • D-2-HYDROXYGLUTARIC aciduria
  • D-2-HYDROXYGLUTARIC aciduria 1
  • L2-Hydroxyglutaric aciduria
C557494079315C1833429MONDO:0010924MONDO_0013941600721C3152055MONDO:0024554MONDO_0009370
D2HGDH Causal
15070399 15609246 16037974 16081310 19169842 20020533 21384162 22391998 27604308 30908763 33431826 25655951
Disgenet, CTD, Orphanet, Open Targets, ClinVar, HPO
  • D-2-HYDROXYGLUTARIC aciduria
79315C1833429MONDO:0010924MONDO_0013941
IDH1 Unknown
22025298 24049096 22057234 22057236 33340416
Open Targets
  • Combined D-2-HYDROXYGLUTARIC aciduria and L-2-HYDROXYGLUTARIC aciduria
  • D-2-HYDROXYGLUTARIC aciduria
  • D-2-HYDROXYGLUTARIC aciduria 2
C557494079315C1833429MONDO:0010924MONDO_0013941613657C3150909MONDO:0013345
IDH2 Causal
20847235 21889589 22391998 24049096
Disgenet, GWAS catalog, Orphanet, Open Targets, ClinVar, HPO
  • Combined D-2-HYDROXYGLUTARIC aciduria and L-2-HYDROXYGLUTARIC aciduria
  • D-2-HYDROXYGLUTARIC aciduria
C557494079315C1833429MONDO:0010924MONDO_0013941
L2HGDH Unknown
15385440 15548604 15824270 16134148 18780161 19911013 20301621 24357685 24753671 25527826 25655951 27159321 27604308 28334938
Disgenet, Open Targets
  • Combined D-2- and L-2-HYDROXYGLUTARIC aciduria
  • Combined D-2-HYDROXYGLUTARIC aciduria and L-2-HYDROXYGLUTARIC aciduria
  • D,L-2-HYDROXYGLUTARIC aciduria
  • D-2-HYDROXYGLUTARIC aciduria
615182C5574940356978MONDO:001407279315C1833429MONDO:0010924MONDO_0013941
SLC25A1 Causal
23393310 23561848 24687295 25614306 27306203 27604308 29031613 29226520 29238895
HPO, Open Targets, Disgenet, ClinVar, GWAS catalog, Orphanet
All5 Causal3 Unknown5
Related Diseases Diseases that share the most curated genes with 2-hydroxyglutaric aciduria.
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No strongly related diseases found yet for 2-hydroxyglutaric aciduria.