Inactivating FANCL Gene Mutation

Preferred Label : Inactivating FANCL Gene Mutation;

NCIt synonyms : FANCL Inactivating Gene Mutation; Inactivating POG Gene Mutation; Loss of Function FANCL Gene Mutation; Inactivating PHD Finger Protein 9 Gene Mutation; Inactivating Fanconi Anemia, Complementation Group L Gene Mutation; FANCL Loss of Function Gene Mutation; Inactivating Fanconi Anemia Complementation Group L Gene Mutation; FANCL Inactivating Mutation; Inactivating FANCL Mutation; FANCL Inactivation; FANCL Loss of Function Mutation; FANCL Gene Inactivation; Inactivating FAAP43 Gene Mutation; Loss of Function FANCL Mutation; Inactivating PHF9 Gene Mutation;

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

NCI Metathesaurus CUI : CL1412730;

Details

Origin ID

C175399;

UMLS CUI

C5446493;

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]
- FANCL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients