Monoallelic PALB2 Gene Inactivation

Preferred Label : Monoallelic PALB2 Gene Inactivation;

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

NCIt definition : Any gain, loss, or exchange of DNA that results in monoallelic loss of function mutations in the PALB2 gene.;

NCI Metathesaurus CUI : CL1772615;

Details

Origin ID

C184315;

UMLS CUI

C5669198;

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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