Deleterious BAP1 Gene Mutation

Preferred Label : Deleterious BAP1 Gene Mutation;

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

NCIt definition : A change in the nucleotide sequence of the BAP1 gene that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL1405449;

Details

Origin ID

C171071;

UMLS CUI

C5418993;

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
- BAP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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