Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
IDH1 MUTATION
IDH1 MUTATION - Associated Disease
- dedifferentiated chondrosarcoma
- Source Database
- DisGeNET
- Description
- Deep parallel sequencing of the dedifferentiated component showed a nonsynonymous mutation at exon 4 of IDH1 gene at codon R132 leading to a substitution of arginine, with serine confirming glandular differentiation in dedifferentiated chondrosarcoma.
- Pubmed
- 26198745
- 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
- 9
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs