Preferred Label : FAN1 Gene Mutation;
NCIt synonyms : FANCD2/FANCI-Associated Nuclease 1 Gene Mutation; KMIN Gene Mutation; Myotubularin Related Protein 15 Gene Mutation; MTMR15 Gene Mutation; FAN1 Mutation;
NCIt definition : A change in the nucleotide sequence of the FAN1 gene.;
NCI Metathesaurus CUI : CL1648011;
Origin ID : C178540;
UMLS CUI : C5555119;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene