Deleterious PALB2 Gene Mutation

Preferred Label : Deleterious PALB2 Gene Mutation;

NCIt synonyms : Deleterious Fanconi Anemia, Complementation Group N Gene Mutation; Deleterious PNCA3 Gene Mutation; Deleterious Partner and Localizer of BRCA2 Gene Mutation; Deleterious FANCN Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the PALB2 gene that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL514630;

Details

Origin ID

C131775;

UMLS CUI

C4329709;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
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- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
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- PALB2 Hereditary Breast Carcinoma [NCIt concept]
- PALB2-Associated Malignant Neoplasm [NCIt concept]
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- 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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