Annotation Detail
Information
- Associated Genes
- IDH2
- Associated Variants
-
IDH2 MUTATION
IDH2 MUTATION - Associated Disease
- chondroblastoma
- Source Database
- DisGeNET
- Description
- Specific H3F3A driver mutations and IDH2 mutations were recently described in giant cell tumor of bone (GCTB) and H3F3B driver mutations in chondroblastoma; these may be helpful as a diagnostic tool for giant cell-containing tumors of the bone.
- Pubmed
- 26457357
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs