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;

Détails

Origin ID

C128816;

UMLS CUI

C4289899;

Automatic exact mappings (from CISMeF team)
- CALR gene mutation [MedDRA Preferred Term]
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]
is_molecular_abnormality_of_disease
- Essential Thrombocythemia with CALR Mutation [NCIt concept]
- Myeloproliferative Neoplasm with CALR Mutation [NCIt concept]
- Primary Myelofibrosis with CALR Mutation [NCIt concept]
molecular_abnormality_involves_gene
- CALR Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients