CALR Exon 9 Mutation

Preferred Label : CALR Exon 9 Mutation;

NCIt synonyms : cC1qR Exon 9 Mutation; Autoantigen Ro Gene Exon 9 Mutation; RO Exon 9 Mutation; CRT Exon 9 Mutation; Calreticulin Gene Exon 9 Mutation; CALR Exon 9 Gene Mutation;

NCIt definition : A molecular genetic abnormality indicating the presence of a mutation in exon 9 of the CALR gene.;

NCIt note : CALR exon 9 mutations are associated with polycythemia vera, essential thrombocythemia, and primary myelofibrosis.;

NCI Metathesaurus CUI : CL512915;

Details

Origin ID

C129831;

UMLS CUI

C4329498;

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]
gene_mutant_encodes_gene_product_sequence_variation
- CALR Protein Variant [NCIt concept]
is_target
- Anti-CALRmut/Anti-CD3 Bispecific Antibody JNJ-88549968 [NCIt concept]
- Anti-mutant Calreticulin Monoclonal Antibody INCA033989 [NCIt concept]
molecular_abnormality_involves_gene
- CALR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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