PALB2 Biallelic Inactivation

Preferred Label : PALB2 Biallelic Inactivation;

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

NCIt definition : The presence of mutations in both alleles of the PALB2 gene that either lead to loss of expression of the PALB2 protein or result in the translation of an inactive PALB2 protein.;

NCI Metathesaurus CUI : CL552336;

Details

Origin ID

C150582;

UMLS CUI

C4725849;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease 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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