Inactivating ERCC1 Gene Mutation

Preferred Label : Inactivating ERCC1 Gene Mutation;

NCIt synonyms : Inactivating ERCC1 Mutation; ERCC1 Loss of Function Gene Mutation; ERCC1 Inactivating Mutation; Inactivating Excision Repair Cross-Complementation Group 1 Gene Mutation; Inactivating Excision-Repair, Complementing Defective, In Chinese Hamster, 1 Gene Mutation; Inactivating ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit Gene Mutation; Inactivating RAD10 Gene Mutation; Inactivating UV20 Gene Mutation; Inactivating COFS4 Gene Mutation; ERCC1 Inactivating Gene Mutation; ERCC1 Loss of Function Mutation; ERCC1 Gene Inactivation;

NCIt definition : A change in the nucleotide sequence of the ERCC1 gene that either inhibits expression or results in the translation of an inactive DNA excision repair protein ERCC-1.;

NCI Metathesaurus CUI : CL1661955;

Details

Origin ID

C179346;

UMLS CUI

C5555628;

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]
- ERCC1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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