Preferred Label : Deleterious FANCE Gene Mutation;
NCIt synonyms : Deleterious Fanconi Anemia Complementation Group E Gene Mutation; Deleterious FACE Gene Mutation; Deleterious FAE Gene Mutation; Deleterious Fanconi Anemia, Complementation Group E Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the FANCE gene that is associated with increased
risk of disease.;
NCI Metathesaurus CUI : CL551899;
Origin ID : C150152;
UMLS CUI : C4725643;
- Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene