Preferred Label : Germline DICER1 Loss of Function Gene Mutation;
NCIt synonyms : Germline Dicer 1, Ribonuclease III Loss of Function Gene Mutation; Germline Inactivating DICER1 Gene Mutation; Germline MNG1 Loss of Function Gene Mutation; Germline DICER Loss of Function Gene Mutation; Germline HERNA Loss of Function Gene Mutation; Germline RMSE2 Loss of Function Gene Mutation; Germline DCR1 Loss of Function Gene Mutation; Germline Inactivating DICER1 Mutation;
NCIt definition : A change in the nucleotide sequence of the DICER1 gene that originates in the gametes
and either inhibits expression or results in the translation of an inactive endoribonuclease
Dicer protein.;
NCI Metathesaurus CUI : CL1779194;
Origin ID : C186699;
UMLS CUI : C5670704;
- Semantic type(s)
- is_molecular_abnormality_of_disease
- molecular_abnormality_involves_gene