Preferred Label : Activating CBL Gene Mutation;
NCIt synonyms : Activating CBL Mutation; Activating Casitas B-Lineage Lymphoma Proto-Oncogene Mutation; Activating RNF55 Gene Mutation; Activating Cbl Proto-Oncogene Gene Mutation; Activating Cas-Br-M Murine Ecotropic Retroviral Transforming Sequence Gene Mutation; CBL Activating Mutation; Activating c-CBL Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the CBL gene that results in constitutive activation
of both E3 ubiquitin-protein ligase CBL and its downstream signaling pathways.;
NCI Metathesaurus CUI : CL1407675;
Origin ID : C173884;
UMLS CUI : C5420428;
Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene
