UBA1 Gene Mutation

Preferred Label : UBA1 Gene Mutation;

NCIt synonyms : UBE1 Gene Mutation; A1S9T Gene Mutation; UBE1X Gene Mutation; CFAP124 Gene Mutation; POC20 Gene Mutation; UBA1A Gene Mutation; Ubiquitin Like Modifier Activating Enzyme 1 Gene Mutation; GXP1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the UBA1 gene.;

NCI Metathesaurus CUI : CL1664894;

Details

Origin ID

C181861;

UMLS CUI

C5557312;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- UBA1 gene mutation [LOINC component]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- UBA1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients