CIC wt Allele - CISMeF

Preferred Label : CIC wt Allele;

NCIt synonyms : Capicua Homolog (Drosophila) Gene; KIAA0306; Capicua, Drosophila, Homolog of Gene; Capicua Transcriptional Repressor wt Allele; MRD45; Capicua (Drosophila) Homolog Gene;

NCIt definition : Human CIC wild-type allele is located in the vicinity of 19q13.2 and is approximately 11 kb in length. This allele, which encodes protein capicua homolog, plays a role in the regulation of transcription. Aberrant expression of the gene is associated with medulloblastoma.;

GenBank Accession Number : AB002304;

Details

Origin ID

C97913;

UMLS CUI

C3273691;

Automatic exact mappings (from CISMeF team)
- Capicua transcriptional repressor [OMIM gene]
- capicua transcriptional repressor [ORDO Gene]
OMIM relation
- Capicua transcriptional repressor [OMIM gene]
See also inter- (CISMeF)
- Intellectual developmental disorder, autosomal dominant 45 [OMIM Phenotype]
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
- 19q13.2 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- CIC-Rearranged Sarcoma [NCIt concept]
gene_plays_role_in_process
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

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