Preferred Label : Activating EGFR Exon 18 Mutation;
NCIt synonyms : EGFR Exon 18 Gain of Function Mutation; EGFR Exon 18 Gain of Function Gene Mutation; Activating Epidermal Growth Factor Receptor Exon 18 Mutation; Gain of Function EGFR Exon 18 Gene Mutation; Activating ERBB Exon 18 Mutation; EGFR Exon 18 Activating Mutation; Activating ERBB1 Exon 18 Mutation; EGFR Exon 18 Activating Gene Mutation; Gain of Function EGFR Exon 18 Mutation; Activating EGFR Exon 18 Gene Mutation; Activating HER1 Exon 18 Mutation;
NCIt definition : A molecular genetic abnormality indicating the presence of a mutation in exon 18 of
the EGFR gene that results in constitutive epidermal growth factor receptor-dependent
signal transduction and activation of downstream signaling pathways.;
NCI Metathesaurus CUI : CL1663558;
Origin ID : C180951;
UMLS CUI : C5556744;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene