Germline ELP1 Gene Variation

Preferred Label : Germline ELP1 Gene Variation;

NCIt synonyms : Germline Inhibitor of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Complex-Associated Protein Gene Mutation; Germline ELP1 Gene Mutation; ELP1 Gene Germline Variation; Germline IKI3 Gene Mutation; Germline IKAP Gene Mutation; Germline TOT1 Gene Mutation; Germline Elongator Acetyltransferase Complex Subunit 1 Gene Mutation; Germline IKBKAP Gene Mutation; ELP1 Gene Germline Mutation;

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

NCI Metathesaurus CUI : CL1778850;

Details

Origin ID

C186589;

UMLS CUI

C5670651;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- ELP1-Associated Medulloblastoma [NCIt concept]
- ELP1-Medulloblastoma Syndrome [NCIt concept]
molecular_abnormality_involves_gene
- ELP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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