Preferred Label : Activating FOXR2 Gene Mutation;
NCIt synonyms : FOXR2 Activating Gene Mutation; Activating Forkhead Box R2 Gene Mutation; Activating FOXN6 Gene Mutation; Activating Forkhead Box N6 Gene Mutation; Gain of Function FOXR2 Gene Mutation; FOXR2 Gain of Function Gene Mutation; FOXR2 Activating Mutation; Activating FOXR2 Mutation;
NCIt definition : A change in the nucleotide sequence of the FOXR2 gene that that results in constitutive
activation of forkhead box R2 protein and its downstream signaling pathways.;
NCI Metathesaurus CUI : CL1915298;
Origin ID : C200604;
UMLS CUI : C5856329;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene