CALR Gene Mutation

Preferred Label : CALR Gene Mutation;

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

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

NCI Metathesaurus CUI : CL512104;

Details

Origin ID

C128816;

UMLS CUI

C4289899;

Automatic exact mappings (from CISMeF team)
- CALR gene mutation [MedDRA Preferred Term]
Molecular abnormality of diseases
- Accelerated Phase Primary Myelofibrosis [NCIt concept]
- Blast Phase Primary Myelofibrosis [NCIt concept]
- Chronic Phase Primary Myelofibrosis [NCIt concept]
- Early/Prefibrotic Primary Myelofibrosis [NCIt concept]
- Essential Thrombocythemia [NCIt concept]
- Overt Primary Myelofibrosis [NCIt concept]
- Post-Essential Thrombocythemia Myelofibrosis [NCIt concept]
- Primary Myelofibrosis [NCIt concept]
- Recurrent Primary Myelofibrosis [NCIt concept]
- Refractory Post-Essential Thrombocythemia Myelofibrosis [NCIt concept]
- Refractory Primary Myelofibrosis [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- CALR gene mutation [MedDRA Preferred Term]
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 NP_004334.1:p.K385fs*47 [NCIt concept]
- CALR NP_004334.1:p.L367fs*46 [NCIt concept]
- CALR Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- CALR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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