FANCA Gene Mutation

Preferred Label : FANCA Gene Mutation;

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

NCIt definition : A change in the nucleotide sequence of the FANCA gene.;

NCI Metathesaurus CUI : CL514390;

Details

Origin ID

C131794;

UMLS CUI

C4329946;

Automatic exact mappings (from CISMeF team)
- fanconi anemia [MeSH Descriptor]
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]
is_molecular_abnormality_of_disease
- Fanconi Anemia, Complementation Group A [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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