DKC1 Gene Mutation

Preferred Label : DKC1 Gene Mutation;

NCIt synonyms : DKCX Gene Mutation; DKC Gene Mutation; NOLA4 Gene Mutation; NAP57 Gene Mutation; Dyskerin Pseudouridine Synthase 1 Gene Mutation; XAP101 Gene Mutation; CBF5 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the DKC1 gene.;

NCI Metathesaurus CUI : CL553287;

Details

Origin ID

C152079;

UMLS CUI

C4726632;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- DKC1 Gene [NCIt concept]
- Telomere Maintenance Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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