BRIP1 Gene Mutation

Preferred Label : BRIP1 Gene Mutation;

NCIt synonyms : FANCJ Gene Mutation; BRCA1 Interacting Protein C-Terminal Helicase 1 Gene Mutation; BACH1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the BRIP1 gene.;

NCI Metathesaurus CUI : CL520369;

Details

Origin ID

C132002;

UMLS CUI

C4329435;

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]
is_molecular_abnormality_of_disease
- Fanconi Anemia, Complementation Group J [NCIt concept]
molecular_abnormality_involves_gene
- BRIP1 Gene [NCIt concept]
- DNA Repair Gene [NCIt concept]
- FA Complementation Group Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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