Annotation Detail
Information
- Associated Genes
- L2HGDH
- Associated Variants
-
L2HGDH MUTATION
L2HGDH MUTATION - Associated Disease
- combined D-2- and L-2-hydroxyglutaric aciduria
- Source Database
- DisGeNET
- Description
- The detailed description of clinical manifestations and L2HGDH mutation in this study is useful for diagnosis of L-2-hydroxyglutaric aciduria in Arab patients.
- Pubmed
- 24894778
- Section of the abstract supporting the evidence
- CONCLUSION
- Number of the section of the abstract supporting the evidence
- 5
- Number of the sentence supporting the evidence
- 12
- Original source reporting the Gene Disease association
- BeFree,CTD_human
- DisGENET score for the Gene Disease association
- 0.122442976848723
Drugs