Preferred Label : HNF1A Gene Mutation;
NCIt definition : A molecular genetic abnormality indicating the presence of inactivating mutation of
the HNF1A (hepatocyte nuclear factor 1-alpha) gene.;
Origin ID : C96763;
UMLS CUI : C3273013;
- Semantic type(s)
- is_molecular_abnormality_of_disease
- molecular_abnormality_involves_gene