Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF MUTATION
BRAF MUTATION - Associated Disease
- LEOPARD Syndrome
- Source Database
- DisGeNET
- Description
- To date, PTPN11, RAF1, and BRAF have been reported to be causal for NSML.
- Pubmed
- 25423878
- 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
- 2
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,ORPHANET
- DisGENET score for the Gene Disease association
- 0.240814325616241
Drugs