Preferred Label : Activating KIT Gene Mutation;
NCIt synonyms : Activating C-KIT Mutation; KIT Activating Mutation; Activating c-KIT Gene Mutation; Activating CD117 Gene Mutation; Activating v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation; Activating KIT Mutation; Activating KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the KIT gene that results in constitutive activation
of both mast/stem cell growth factor receptor Kit and its downstream signaling pathways.;
NCI Metathesaurus CUI : CL1407688;
Origin ID : C173887;
UMLS CUI : C5420430;
Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene
