ERCC2 Gene Mutation

Preferred Label : ERCC2 Gene Mutation;

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

NCIt definition : A change in the nucleotide sequence of the ERCC2 gene.;

NCI Metathesaurus CUI : CL514386;

Details

Origin ID

C131800;

UMLS CUI

C4329778;

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

Keyword's position in hierarchy(ies) :

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