ELP1 wt Allele

Preferred Label : ELP1 wt Allele;

NCIt synonyms : IKI3; Inhibitor of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Complex-Associated Protein Gene; IKAP; TOT1; IKBKAP; FD; DYS; Elongator Acetyltransferase Complex, Subunit 1 Gene; Elongator Acetyltransferase Complex Subunit 1 wt Allele; Dysautonomia (Riley-Day Syndrome, Hereditary Sensory Autonomic Neuropathy Type III) Gene; ELP1, Yeast, Homolog of Gene;

NCIt definition : Human ELP1 wild-type allele is located in the vicinity of 9q31.3 and is approximately 67 kb in length. This allele, which encodes elongator complex protein 1, plays a role in the modification of tRNA. Mutation of the gene is associated with familial dysautonomia and predisposition for medulloblastoma.;

NCI Metathesaurus CUI : CL1779156;

GenBank Accession Number : AF044195;

Details

Origin ID

C186685;

UMLS CUI

C5575280;

Automatic exact mappings (from CISMeF team)
- Elongator complex protein 1 [OMIM gene]
- Fabry disease [ORDO Disease]
- Final diagnosis (discharge) (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Neuropathy, hereditary sensory and autonomic, type III [OMIM Phenotype]
- elongator complex protein 1 [ORDO Gene]
OMIM relation
- Elongator complex protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q31.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- ELP1-Associated Medulloblastoma [NCIt concept]
- ELP1-Medulloblastoma Syndrome [NCIt concept]
gene_plays_role_in_process
- RNA Binding [NCIt concept]
- RNA Processing [NCIt concept]
- Translation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients