Deleterious NBN Gene Mutation

Preferred Label : Deleterious NBN Gene Mutation;

NCIt synonyms : Deleterious AT-V1 Gene Mutation; Deleterious Nijmegen Breakage Syndrome 1 Gene Mutation; Deleterious AT-V2 Gene Mutation; Deleterious NBS1 Gene Mutation; Deleterious NBS Gene Mutation; Deleterious ATV Gene Mutation; Deleterious P95 Gene Mutation; Deleterious Nibrin Gene Mutation;

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

NCI Metathesaurus CUI : CL551895;

Details

Origin ID

C150157;

UMLS CUI

C4725647;

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]
- Homologous Recombination Repair Gene [NCIt concept]
- NBN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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