SETBP1 wt Allele

Preferred Label : SETBP1 wt Allele;

NCIt synonyms : SEB; SET Binding Protein 1 wt Allele; KIAA0437; MRD29;

NCIt definition : Human SETBP1 wild-type allele is located in the vicinity of 18q21.1 and is approximately 388 kb in length. This allele, which encodes SET-binding protein, may play a role in the regulation of protein SET activity. Mutation of the gene is associated with Schinzel-Giedion midface retraction syndrome. A chromosomal translocation, t(11;18)(p15;q12), involving this gene and the NUP98 gene is involved in T-cell acute lymphoblastic leukemia.;

GenBank Accession Number : AB022660;

Details

Origin ID

C106636;

UMLS CUI

C3815268;

Automatic exact mappings (from CISMeF team)
- SET binding protein 1 [ORDO Gene]
- Set-binding protein 1 [OMIM gene]
- autosomal dominant non-syndromic intellectual disability 29 [DO Concept]
OMIM relation
- Set-binding protein 1 [OMIM gene]
See also inter- (CISMeF)
- Intellectual developmental disorder, autosomal dominant 29 [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
- 18q21.1 [NCIt concept]
gene_plays_role_in_process
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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