PALB2 Gene Mutation

Preferred Label : PALB2 Gene Mutation;

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

NCIt definition : A molecular genetic abnormality that refers to a change in the nucleotide sequence of the PALB2 gene.;

Details

Origin ID

C101641;

UMLS CUI

C3640153;

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 N [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) :

You can consult :

recommendations
documents concerning education
documents for patients