Inactivating ERCC5 Gene Mutation

Preferred Label : Inactivating ERCC5 Gene Mutation;

NCIt synonyms : Inactivating ERCC5 Mutation; Inactivating UVDR Gene Mutation; ERCC5 Inactivating Mutation; ERCC5 Inactivating Gene Mutation; Inactivating ERCM2 Gene Mutation; Inactivating ERCC Excision Repair 5, Endonuclease Gene Mutation; ERCC5 Loss of Function Mutation; ERCC5 Gene Inactivation; ERCC5 Loss of Function Gene Mutation; Inactivating XPGC Gene Mutation; Inactivating XPG Gene Mutation; Inactivating Excision-Repair, Complementing Defective, In Chinese Hamster, 5 Gene Mutation; Inactivating COFS3 Gene Mutation; Inactivating Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 5 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the ERCC5 gene that either inhibits expression or results in the translation of an inactive DNA repair protein complementing XP-G cells protein.;

NCI Metathesaurus CUI : CL1661961;

Details

Origin ID

C179352;

UMLS CUI

C5555634;

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]
- ERCC5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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