Preferred Label : Inactivating IGF2R Gene Mutation;
NCIt synonyms : IGF2R Tumor-Suppressor Gene Inactivation; IGF2R Gene Inactivation; Inactivating Insulin-Like Growth Factor 2 Receptor Gene Mutation; Loss of Function IGF2R Mutation; Inactivating MPR1 Gene Mutation; Inactivating MPRI Gene Mutation; Loss of Function IGF2R Gene Mutation; Inactivating IGF2R Mutation; Inactivating Insulin Like Growth Factor 2 Receptor Gene Mutation; Inactivating CIMPR Gene Mutation; Inactivating CD222 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the IGF2R gene that either inhibits expression
or results in the translation of an inactive cation-independent mannose-6-phosphate
receptor protein.;
Origin ID : C36653;
UMLS CUI : C1512586;
Semantic type(s)
is_abnormality_of_gene
molecular_abnormality_involves_gene