Deleterious FANCL Gene Mutation

Preferred Label : Deleterious FANCL Gene Mutation;

NCIt synonyms : Deleterious FAAP43 Gene Mutation; Deleterious Fanconi Anemia, Complementation Group L Gene Mutation; Deleterious PHF9 Gene Mutation; Deleterious Fanconi Anemia Complementation Group L Gene Mutation; Deleterious PHD Finger Protein 9 Gene Mutation; Deleterious POG Gene Mutation;

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

NCI Metathesaurus CUI : CL522091;

Details

Origin ID

C134510;

UMLS CUI

C4525194;

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]
- FANCL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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