Inactivating ERCC3 Gene Mutation

Preferred Label : Inactivating ERCC3 Gene Mutation;

NCIt synonyms : Inactivating TTD2 Gene Mutation; Inactivating ERCC3 Mutation; ERCC3 Inactivating Mutation; Inactivating BTF2 Gene Mutation; Inactivating Excision-Repair, Complementing Defective, in Chinese Hamster, 3 Gene Mutation; Inactivating RAD25 Gene Mutation; ERCC3 Inactivating Gene Mutation; Inactivating ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit Gene Mutation; ERCC3 Loss of Function Mutation; ERCC3 Gene Inactivation; ERCC3 Loss of Function Gene Mutation; Inactivating XPB Gene Mutation; Inactivating GTF2H Gene Mutation; Inactivating Excision Repair Cross-Complementation Group 3 Gene Mutation; Inactivating Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 3 Gene Mutation; Inactivating Xeroderma Pigmentosum Group B Complementing Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the ERCC3 gene that either inhibits expression or results in the translation of an inactive TFIIH basal transcription factor complex helicase XPB subunit protein.;

NCI Metathesaurus CUI : CL1661949;

Details

Origin ID

C179348;

UMLS CUI

C5555630;

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]
- ERCC3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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