Annotation Detail
Information
- Associated Genes
- MDM2
- Associated Variants
-
MDM2 MUTATION
MDM2 MUTATION - Associated Disease
- Li-Fraumeni syndrome
- Source Database
- DisGeNET
- Description
- To date, all genetic modifiers in LFS have been shown to map to either TP53 or its principal negative regulator, MDM2.
- Pubmed
- 25683625
- 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
- 3
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN,ORPHANET
- DisGENET score for the Gene Disease association
- 0.133897074259478
Drugs