Annotation Detail
Information
- Associated Genes
- CBL
- Associated Variants
-
CBL MUTATION
CBL MUTATION - Associated Disease
- Mastocytosis, Systemic
- Source Database
- DisGeNET
- Description
- All patients with (A)SM-AHNMD (n=12) carried 1-4 (median 3) additional mutations in 11 genes tested, most frequently TET2, SRSF2, ASXL1, CBL and EZH2.
- Pubmed
- 25567135
- 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
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs