BICC1 wt Allele

Preferred Label : BICC1 wt Allele;

NCIt synonyms : CYSRD; BicC Family RNA Binding Protein 1 wt Allele; Bicaudal C, Drosophila, Homolog, 1 Gene; Bicaudal C Homolog 1 Gene; BICC; Bicaudal C Homolog 1 (Drosophila) Gene;

NCIt definition : Human BICC1 wild-type allele is located in the vicinity of 10q21.1 and is approximately 319 kb in length. This allele, which encodes protein bicaudal C homolog 1, plays a role in RNA binding. Mutation of the gene is associated with susceptibility to cystic renal dysplasia and a translocation that fuses this gene with the FGFR2 gene is associated with cholangiocarcinoma.;

NCI Metathesaurus CUI : CL1663484;

GenBank Accession Number : AK026129;

Details

Origin ID

C180818;

UMLS CUI

C5551280;

Automatic exact mappings (from CISMeF team)
- Bicc family rna-binding protein 1 [OMIM gene]
- Renal dysplasia, cystic, susceptibility to [OMIM Phenotype]
- diffuse cystic renal dysplasia [DO Concept]
OMIM relation
- Bicc family rna-binding protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q21.1 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- RNA Binding [NCIt concept]
- Signal Transduction Inhibition [NCIt concept]

Keyword's position in hierarchy(ies) :

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