D-2-hydroxyglutaric aciduria
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| D,L-2-HYDROXYGLUTARIC ACIDURIA | SLC25A1 | Causal | ClinVar GWAS catalog Orphanet | ||
| D-2-HYDROXYGLUTARIC ACIDURIA | D2HGDH | Causal | CTD Disgenet Orphanet | ||
| IDH2 | Unknown | Disgenet GWAS catalog Orphanet | |||
| L2HGDH | Unknown | — | Disgenet | ||
| SLC25A1 | Unknown | — | Disgenet | ||
| D-2-HYDROXYGLUTARIC ACIDURIA 1 | D2HGDH | Causal | CTD ClinVar Disgenet HPO | ||
| D-2-HYDROXYGLUTARIC ACIDURIA 2 | IDH2 | Causal | ClinVar Disgenet GWAS catalog HPO |