Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
IDH1 MUTATION
IDH1 MUTATION - Associated Disease
- dedifferentiated chondrosarcoma
- Source Database
- DisGeNET
- Description
- However, heterozygous mutations in isocitrate dehydrogenase (IDH) enzymes recently have been identified in chondrogenic neoplasms, with mutations reported in approximately 87% of benign enchondromas, 70% of conventional chondrosarcomas, and 54% of dedifferentiated chondrosarcomas.
- Pubmed
- 25993236
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs