BRCA1 DNA repair associated

Preferred Label : BRCA1 DNA repair associated;

Approved symbol HGNC : BRCA1;

Name synonyms HGNC : subunit 1; protein phosphatase 1; complementation group S; BRCA1/BRCA2-containing complex; regulatory subunit 53; Fanconi anemia;

Alias symbols HGNC : RNF53; BRCC1; PPP1R53; FANCS;

Chromosome HGNC : 17q21.31;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000012048;

Details

Origin ID

HGNC:1100;

UMLS CUI

C0376571;

Automatic exact mappings (from CISMeF team)
- BRCA1 DNA repair associated [ORDO Gene]
- Brca1 dna repair-associated protein [OMIM gene]
- Fanconi Anemia [NCIt concept]
- Fanconi anemia [ORDO Disease]
- Fanconi anemia [PASCAL descriptor]
- Fanconi anemia [DO Concept]
- Fanconi anemia [OMIM phenotypic series]
- Fanconi anemia, complementation group a [OMIM Phenotype]
- Fanconi anemia, complementation group s [OMIM Phenotype]
- Fanconi's anemia [MedDRA LLT]
- Fanconi's anemia (disorder) [SNOMED CT concept]
- aplastic anemia [MedlinePlus Topic]
- fanconi anemia [MeSH concept]
- fanconi anemia [MeSH Descriptor]
- protein phosphatase 1 [MeSH Descriptor]
- protein phosphatase 1 [MeSH concept]
NCIt concept
- BRCA1 Gene [NCIt concept]
OMIM gene
- Brca1 dna repair-associated protein [OMIM gene]
Orphanet gene
- BRCA1 DNA repair associated [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BRCA1 [LOINC component]
- BRCA1 Gene [NCIt concept]
- BRCA1 gene [LOINC component]
- Brca1 dna repair-associated protein [OMIM gene]
- genes, BRCA1 [MeSH concept]
- genes, BRCA1 [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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