Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A MUTATION
CDKN2A MUTATION - Associated Disease
- chondrosarcoma
- Source Database
- DisGeNET
- Description
- We show that p16/CDKN2A copy number variation occurs subsequent to the IDH1 mutation, and confirm that p16/CDKN2A copy number variation occurs in 75% of high grade central chondrosarcomas, and not in low grade cartilaginous tumours.
- Pubmed
- 25432631
- 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
- 6
- Original source reporting the Gene Disease association
- BeFree,LHGDN
- DisGENET score for the Gene Disease association
- 0.0051673270911899
Drugs