ELP1 Gene Mutation

Preferred Label : ELP1 Gene Mutation;

NCIt synonyms : TOT1 Gene Mutation; IKBKAP Gene Mutation; IKI3 Gene Mutation; Elongator Acetyltransferase Complex Subunit 1 Gene Mutation; IKAP Gene Mutation; Inhibitor of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Complex-Associated Protein Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the ELP1 gene.;

NCI Metathesaurus CUI : CL1778849;

Details

Origin ID

C186588;

UMLS CUI

C5670650;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- Medulloblastoma, SHH-3 [NCIt concept]
is_not_molecular_abnormality_of_disease
- Medulloblastoma, SHH-Activated, TP53-Mutant [NCIt concept]
molecular_abnormality_involves_gene
- ELP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients