Inactivating FANCE Gene Mutation

Preferred Label : Inactivating FANCE Gene Mutation;

NCIt synonyms : Loss of Function FANCE Gene Mutation; Loss of Function FANCE Mutation; Inactivating FAE Gene Mutation; FANCE Inactivating Gene Mutation; Inactivating Fanconi Anemia, Complementation Group E Gene Mutation; FANCE Loss of Function Mutation; FANCE Gene Inactivation; Inactivating FACE Gene Mutation; Inactivating FANCE Mutation; FANCE Loss of Function Gene Mutation; Inactivating Fanconi Anemia Complementation Group E Gene Mutation; FANCE Inactivation; FANCE Inactivating Mutation;

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

NCI Metathesaurus CUI : CL1412732;

Details

Origin ID

C175401;

UMLS CUI

C5446495;

Automatic exact mappings (from CISMeF team)
- Loss of Function Mutation [MeSH Descriptor]
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]
- FANCE Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients