EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   1.1.99.39 | alcohol dehydrogenase deficiency |
16442322 |
D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
2
0 |
| 1.1.99.39 | Brain Diseases |
16081310 |
Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. |
diagnostic usage
unassigned |
3
0 |
| 1.1.99.39 | Brain Neoplasms |
20727073 |
Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations. |
diagnostic usage
unassigned |
1
0 |
| 1.1.99.39 | Breast Neoplasms |
34296423 |
D-2-hydroxyglutarate dehydrogenase in breast carcinoma as a potent prognostic marker associated with proliferation. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
3
4
4
1 |
| 1.1.99.39 | Chondromatosis |
32166993 |
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 1.1.99.39 | Colitis |
29339485 |
Elevated d-2-hydroxyglutarate during colitis drives progression to colorectal cancer. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
4
1
0 |
| 1.1.99.39 | Colitis, Ulcerative |
29339485 |
Elevated d-2-hydroxyglutarate during colitis drives progression to colorectal cancer. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
4
1
0 |
| 1.1.99.39 | Enchondromatosis |
29744569 |
Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria. |
diagnostic usage
therapeutic application
unassigned |
3
1
0 |
| 1.1.99.39 | Glioblastoma |
21625441 |
Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma. |
causal interaction
unassigned |
3
0 |
| 1.1.99.39 | Glioma |
32386320 |
Adult Diffuse Glioma GWAS by Molecular Subtype Identifies Variants in D2HGDH and FAM20C. |
diagnostic usage
therapeutic application
unassigned |
2
1
0 |
