Inactivating PALB2 Gene Mutation

Preferred Label : Inactivating PALB2 Gene Mutation;

NCIt synonyms : PALB2 Loss of Function Mutation; PALB2 Inactivation; PALB2 Gene Inactivation; Inactivating Partner and Localizer of BRCA2 Gene Mutation; Loss of Function FANCN Gene Mutation; Loss of Function PALB2 Mutation; PALB2 Inactivating Gene Mutation; Inactivating Fanconi Anemia, Complementation Group N Gene Mutation; Loss of Function PALB2 Gene Mutation; PALB2 Loss of Function Gene Mutation; Inactivating FANCN Mutation; PALB2 Inactivating Mutation; Inactivating PNCA3 Gene Mutation; Inactivating FANCN Gene Mutation; Inactivating PALB2 Mutation;

NCIt definition : A mutation in the PALB2 gene that either inhibits the expression of or results in the translation of an inactive partner and localizer of BRCA2 protein.;

NCI Metathesaurus CUI : CL1412731;

Details

Origin ID

C175398;

UMLS CUI

C5446492;

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]
- FA Complementation Group Gene [NCIt concept]
- PALB2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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