Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
IDH1 MUTATION
IDH1 MUTATION - Associated Disease
- Enchondroma
- Source Database
- DisGeNET
- Description
- Taken together, these data show that mutant IDH or d-2HG causes persistence of chondrocytes, giving rise to rests of growth-plate cells that persist in the bone as enchondromas.
- Pubmed
- 25730874
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 11
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs