SETD5 wt Allele

Preferred Label : SETD5 wt Allele;

NCIt synonyms : FLJ10707; MRD23; SET Domain Containing 5 wt Allele; KIAA1757;

NCIt definition : Human SETD5 wild-type allele is located in the vicinity of 3p25.3 and is approximately 82 kb in length. This allele, which encodes histone-lysine N-methyltransferase SETD5 protein, plays a role in histone methylation. Mutation of the gene is associated with autosomal dominant mental retardation type 23.;

NCI Metathesaurus CUI : CL1405605;

GenBank Accession Number : BC020956;

Details

Origin ID

C171315;

UMLS CUI

C5401293;

Automatic exact mappings (from CISMeF team)
- Intellectual developmental disorder, autosomal dominant 23 [OMIM Phenotype]
- SET domain containing 5 [ORDO Gene]
- Set domain-containing protein 5 [OMIM gene]
- autosomal dominant non-syndromic intellectual disability 23 [DO Concept]
OMIM relation
- Set domain-containing protein 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p25.3 [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Gene Expression [NCIt concept]
- Histone Methylation [NCIt concept]
- Methylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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