Deleterious FANCA Gene Mutation

Preferred Label : Deleterious FANCA Gene Mutation;

NCIt synonyms : Deleterious FAH Gene Mutation; Deleterious Fanconi Anemia, Complementation Group H Gene Mutation; Deleterious FA1 Gene Mutation; Deleterious FANCH Gene Mutation; Deleterious Fanconi Anemia, Type 1 Gene Mutation; Deleterious FA-H Gene Mutation; Deleterious FACA Gene Mutation; Deleterious FA Gene Mutation; Deleterious FAA Gene Mutation; Deleterious Fanconi Anemia, Complementation Group A Gene Mutation; Deleterious Fanconi Anemia Complementation Group A Gene Mutation;

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

NCI Metathesaurus CUI : CL551906;

Details

Origin ID

C150149;

UMLS CUI

C4725640;

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]
- FANCA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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