Inactivating ERCC2 Gene Mutation

Preferred Label : Inactivating ERCC2 Gene Mutation;

NCIt synonyms : Inactivating TTD1 Gene Mutation; Inactivating ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit Gene Mutation; ERCC2 Loss of Function Gene Mutation; Inactivating XPDC Gene Mutation; ERCC2 Inactivating Mutation; Inactivating MAG Gene Mutation; Inactivating XP4 Gene Mutation; ERCC2 Loss of Function Mutation; ERCC2 Gene Inactivation; Inactivating TTD Gene Mutation; Inactivating ERCC2 Mutation; Inactivating XPD Gene Mutation; Inactivating EM9 Gene Mutation; Inactivating Excision-Repair, Complementing Defective, In Chinese Hamster, 2 Gene Mutation; Inactivating Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 2 Gene Mutation; ERCC2 Inactivating Gene Mutation; Inactivating CXPD Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the ERCC2 gene that either inhibits expression or results in the translation of an inactive general transcription and DNA repair factor IIH helicase subunit XPD protein.;

NCI Metathesaurus CUI : CL1661954;

Details

Origin ID

C179347;

UMLS CUI

C5555629;

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]
- ERCC Family Gene [NCIt concept]
- ERCC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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