Inactivating ERCC4 Gene Mutation

Preferred Label : Inactivating ERCC4 Gene Mutation;

NCIt synonyms : ERCC4 Loss of Function Mutation; Inactivating ERCC11 Gene Mutation; ERCC4 Gene Inactivation; Inactivating ERCC4 Mutation; ERCC4 Loss of Function Gene Mutation; Inactivating XPF Gene Mutation; Inactivating RAD1 Gene Mutation; ERCC4 Inactivating Mutation; Inactivating Excision-Repair, Complementing Defective, In Chinese Hamster, 4 Gene Mutation; Inactivating ERCC Excision Repair 4, Endonuclease Catalytic Subunit Gene Mutation; ERCC4 Inactivating Gene Mutation; Inactivating Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 4 Gene Mutation; Inactivating FANCQ Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the ERCC4 gene that either inhibits expression or results in the translation of an inactive DNA repair endonuclease XPF protein.;

NCI Metathesaurus CUI : CL1661951;

Details

Origin ID

C179350;

UMLS CUI

C5555632;

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]
- ERCC4 Gene [NCIt concept]
- FA Complementation Group Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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