DOCK8 wt Allele

Preferred Label : DOCK8 wt Allele;

NCIt synonyms : FLJ00026; FLJ00346; Dedicator of Cytokinesis 8 wt Allele; MRD2; ZIR8; HEL-205; FLJ00152;

NCIt definition : Human DOCK8 wild-type allele is located in the vicinity of 9p24.3 and is approximately 250 kb in length. This allele, which encodes dedicator of cytokinesis protein 8, may be involved in the activation of small GTPases. Variation in the gene is associated with autosomal recessive hyperimmunoglobulin E recurrent infection syndrome and disruption or deletion of the gene is associated with autosomal dominant mental retardation 2.;

GenBank Accession Number : AK090429;

Details

Origin ID

C116054;

UMLS CUI

C3889405;

Automatic exact mappings (from CISMeF team)
- autosomal dominant non-syndromic intellectual disability 2 [DO Concept]
- dedicator of cytokinesis 8 [ORDO Gene]
OMIM relation
- Dedicator of cytokinesis 8 [OMIM gene]
See also inter- (CISMeF)
- Intellectual developmental disorder, autosomal dominant 2 [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_plays_role_in_process
- Cell-Mediated Immunity [NCIt concept]
- Leukocyte Trafficking Induction [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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