Annotation Detail
Information
- Associated Genes
- CBL
- Associated Variants
-
CBL MUTATION
CBL MUTATION - Associated Disease
- Moyamoya disease 1
- Source Database
- DisGeNET
- Description
- Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.
- Pubmed
- 25283271
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs