Inactivating PRKDC Gene Mutation

Preferred Label : Inactivating PRKDC Gene Mutation;

NCIt synonyms : Inactivating PRKDC Mutation; Inactivating HYRC1 Gene Mutation; Inactivating DNAPK Gene Mutation; PRKDC Inactivating Mutation; Inactivating Protein Kinase, DNA-Activated, Catalytic Polypeptide Gene Mutation; Inactivating Hyper-Radiosensitivity of Murine SCID Mutation, Complementing 1 Gene Mutation; Inactivating DNA-PKcs Gene Mutation; Inactivating HYRC Gene Mutation; PRKDC Inactivating Gene Mutation; PRKDC Loss of Function Mutation; PRKDC Gene Inactivation; PRKDC Loss of Function Gene Mutation; Inactivating DNPK1 Gene Mutation; Inactivating p350 Gene Mutation; Inactivating XRCC7 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the PRKDC gene that either inhibits expression or results in the translation of an inactive DNA-dependent protein kinase catalytic subunit protein.;

NCI Metathesaurus CUI : CL1661962;

Details

Origin ID

C179355;

UMLS CUI

C5555637;

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]
- PRKDC Gene [NCIt concept]
- X-Ray Cross Complementing Group [NCIt concept]

Keyword's position in hierarchy(ies) :

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