PKLR Gene Mutation

Preferred Label : PKLR Gene Mutation;

NCIt synonyms : Pyruvate Kinase, Liver and RBC Gene Mutation; Pyruvate Kinase L/R Gene Mutation; RPK Gene Mutation; PKL Gene Mutation; PKRL Gene Mutation; PK1 Gene Mutation; PKR Gene Mutation;

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

NCI Metathesaurus CUI : CL936908;

Details

Origin ID

C157141;

UMLS CUI

C4763434;

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

Keyword's position in hierarchy(ies) :

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