MED13 wt Allele

Preferred Label : MED13 wt Allele;

NCIt synonyms : Thyroid Hormone Receptor-Associated Protein, 240-kD Gene; Mediator of RNA Polymerase II Transcription, Subunit 13 Homolog Gene; HSPC221; Thyroid Hormone Receptor Associated Protein 1 Gene; DRIP250; MRD61; ARC250; Mediator Complex Subunit 13 wt Allele; KIAA0593; TRAP240; THRAP1; Thyroid Hormone Receptor-Associated Protein, 240 kDa Subunit Gene;

NCIt definition : Human MED13 wild-type allele is located in the vicinity of 17q23.2 and is approximately 123 kb in length. This allele, which encodes mediator of RNA polymerase II transcription subunit 13 protein, plays a role in transcriptional regulation. Mutation of the gene is associated with autosomal dominant intellectual developmental disorder 61.;

NCI Metathesaurus CUI : CL1773855;

GenBank Accession Number : AB011165;

Details

Origin ID

C185705;

UMLS CUI

C5575303;

Automatic exact mappings (from CISMeF team)
- Intellectual developmental disorder, autosomal dominant 61 [OMIM Phenotype]
- Mediator complex subunit 13 [OMIM gene]
- mediator complex subunit 13 [ORDO Gene]
OMIM relation
- Mediator complex subunit 13 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients