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 |