Deleterious FANCD2 Gene Mutation

Preferred Label : Deleterious FANCD2 Gene Mutation;

NCIt synonyms : Deleterious Fanconi Anemia Complementation Group D2 Gene Mutation; Deleterious Fanconi Anemia, Complementation Group D2 Gene Mutation; Deleterious FAD2 Gene Mutation; Deleterious FANCD Gene Mutation; Deleterious FA4 Gene Mutation; Deleterious Fanconi Anemia, Type 4 Gene Mutation; Deleterious FA-D2 Gene Mutation; Deleterious FACD Gene Mutation; Deleterious FAD Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the FANCD2 gene that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL551900;

Details

Origin ID

C150151;

UMLS CUI

C4725642;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease 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) :

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