BAP1 Loss of Function Gene Mutation

Preferred Label : BAP1 Loss of Function Gene Mutation;

NCIt synonyms : Inactivating BRCA1 Associated Protein 1 Gene Mutation; Inactivating BAP1 Mutation; Inactivating BAP1 Gene Mutation; Inactivating BRCA1-Associated Protein 1 Gene Mutation; Inactivating UCHL2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the BAP1 gene that either inhibits expression or results in the translation of an inactive ubiquitin carboxyl-terminal hydrolase BAP1 protein.;

NCI Metathesaurus CUI : CL552220;

Details

Origin ID

C150448;

UMLS CUI

C4725740;

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
- BAP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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