UNC13D wt Allele

Preferred Label : UNC13D wt Allele;

NCIt synonyms : HLH3; HPLH3; Unc-13 Homolog D (C. elegans) wt Allele; Munc13-4; FHL3;

NCIt related terms : FHL3 / MUNC 13-4 (UNC13D);

NCIt definition : Human UNC13D wild-type allele is located in the vicinity of 17q25.1 and is approximately 17 kb in length. This allele, which encodes protein unc-13 homolog D protein, plays a role in the regulation of cytolytic granule secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3.;

GenBank Accession Number : XM_113950;

Details

Origin ID

C114614;

UMLS CUI

C3889724;

Automatic exact mappings (from CISMeF team)
- Four-and-a-half lim domains 3 [OMIM gene]
- Unc13 homolog D [OMIM gene]
- familial hemophagocytic lymphohistiocytosis 3 [DO Concept]
- unc-13 homolog D [ORDO Gene]
OMIM relation
- Unc13 homolog D [OMIM gene]
See also inter- (CISMeF)
- Hemophagocytic lymphohistiocytosis, familial, 3 [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_involved_in_pathogenesis_of_disease
- Familial Hemophagocytic Lymphohistiocytosis Type 3 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients