Preferred Label : Activating MAP2K1 Gene Mutation;
NCIt synonyms : Gain of Function MAP2K1 Mutation; Activating PRKMK1 Gene Mutation; Gain of Function MAP2K1 Gene Mutation; Activating Mitogen-Activated Protein Kinase Kinase 1 Gene Mutation; MAP2K1 Activating Mutation; MAP2K1 Gain of Function Gene Mutation; Activating MAPKK1 Gene Mutation; Activating MAP2K1 Mutation; Activating MEK1 Gene Mutation; MAP2K1 Gain of Function Mutation; MAP2K1 Activating Gene Mutation; Activating MKK1 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the MAP2K1 gene that results in constitutive
activation of both dual specificity mitogen-activated protein kinase kinase 1 and
its downstream signaling pathways.;
NCI Metathesaurus CUI : CL1794195;
Origin ID : C189228;
UMLS CUI : C5708323;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene