Annotation Detail
Information
- Associated Genes
- L2HGDH
- Associated Variants
-
L2HGDH MUTATION
L2HGDH MUTATION - Associated Disease
- L-2-hydroxyglutaric aciduria
- Source Database
- DisGeNET
- Description
- Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
- Pubmed
- 24573090
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.362171534976642
Drugs