Inactivating FANCD2 Gene Mutation

Preferred Label : Inactivating FANCD2 Gene Mutation;

NCIt synonyms : Loss of Function FANCD2 Gene Mutation; Loss of Function FANCD2 Mutation; Inactivating FAD Gene Mutation; FANCD2 Loss of Function Gene Mutation; Inactivating FA-D2 Gene Mutation; FANCD2 Inactivating Mutation; Inactivating Fanconi Anemia Complementation Group D2 Gene Mutation; Inactivating FACD Gene Mutation; FANCD2 Inactivation; Inactivating FANCD2 Mutation; Inactivating FA4 Gene Mutation; FANCD2 Loss of Function Mutation; FANCD2 Gene Inactivation; Inactivating Fanconi Anemia, Complementation Group D2 Gene Mutation; Inactivating FAD2 Gene Mutation; FANCD2 Inactivating Gene Mutation;

NCIt definition : A mutation in the FANCD2 gene that either inhibits the expression of or results in the translation of an inactive Fanconi anemia group D2 protein.;

NCI Metathesaurus CUI : CL1412727;

Details

Origin ID

C175402;

UMLS CUI

C5446496;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- DNA Repair Gene [NCIt concept]
- FA Complementation Group Gene [NCIt concept]
- FANCD2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients