Inactivating FANCA Gene Mutation

Preferred Label : Inactivating FANCA Gene Mutation;

NCIt synonyms : Inactivating FAA Gene Mutation; Inactivating Fanconi Anemia, Type 1 Gene Mutation; Inactivating Fanconi Anemia, Complementation Group A Gene Mutation; Inactivating FA-H Gene Mutation; Inactivating FAH Gene Mutation; Inactivating Fanconi Anemia, Complementation Group H Gene Mutation; Inactivating FA Gene Mutation; Inactivating Fanconi Anemia Complementation Group A Gene Mutation; Inactivating FANCA Mutation; FANCA Inactivating Mutation; FANCA Inactivation; Loss of Function FANCA Mutation; FANCA Loss of Function Mutation; FANCA Gene Inactivation; FANCA Inactivating Gene Mutation; Inactivating FACA Gene Mutation; Inactivating FA1 Gene Mutation; Inactivating FANCH Gene Mutation; FANCA Loss of Function Gene Mutation; Loss of Function FANCA Gene Mutation;

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

NCI Metathesaurus CUI : CL1412722;

Details

Origin ID

C175407;

UMLS CUI

C5446499;

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]
- FANCA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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