Inactivating FANCI Gene Mutation

Preferred Label : Inactivating FANCI Gene Mutation;

NCIt synonyms : FANCI Inactivating Mutation; Loss of Function FANCI Mutation; FANCI Inactivating Gene Mutation; Loss of Function FANCI Gene Mutation; Inactivating FA Complementation Group I Gene; Inactivating Fanconi Anemia, Complementation Group I Gene Mutation; Inactivating FANCI Mutation; FANCI Loss of Function Mutation; FANCI Loss of Function Gene Mutation; FANCI Gene Inactivation; Inactivating FACI Gene Mutation; FANCI Inactivation; Inactivating Fanconi Anemia Complementation Group I Gene Mutation;

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

NCI Metathesaurus CUI : CL1412729;

Details

Origin ID

C175404;

UMLS CUI

C5445403;

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]
- FANCI Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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