PALB2 Gene - CISMeF

Preferred Label : PALB2 Gene;

NCIt synonyms : Partner and Localizer of BRCA2 Gene;

NCIt related terms : PALB2;

CISMeF acronym : PALB2;

NCIt definition : This gene may play a role in the repair of DNA damage that is resolved by recombination.;

Details

Origin ID

C84945;

UMLS CUI

C1835898;

Automatic exact mappings (from CISMeF team)
- PALB2 gene [LOINC component]
- Partner and localizer of brca2 [OMIM gene]
- partner and localizer of BRCA2 [ORDO Gene]
HGNC gene
- partner and localizer of BRCA2 [HGNC gene]
OMIM relation
- Partner and localizer of brca2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PALB2 gene [LOINC component]
- Partner and localizer of brca2 [OMIM gene]
- partner and localizer of BRCA2 [HGNC gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Partner and Localizer of BRCA2 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Deleterious PALB2 Gene Mutation [NCIt concept]
- Germline PALB2 Gene Mutation [NCIt concept]
- Inactivating PALB2 Gene Mutation [NCIt concept]
- Monoallelic PALB2 Gene Inactivation [NCIt concept]
- PALB2 Biallelic Inactivation [NCIt concept]
- PALB2 Gene Mutation [NCIt concept]
- PALB2 Protein Variant [NCIt concept]
- Somatic PALB2 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Fanconi Anemia, Complementation Group N [NCIt concept]
- PALB2-Associated Breast Carcinoma [NCIt concept]
gene_mapped_to_disease
- Fanconi Anemia, Complementation Group N [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Recombination Repair [NCIt concept]
genetic_biomarker_related_to
- Fanconi Anemia [NCIt concept]
- Fanconi Anemia, Complementation Group N [NCIt concept]
- PALB2 Gene Mutation Negative [NCIt concept]
- PALB2 Mutation Analysis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

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