MPL Gene Mutation

Preferred Label : MPL Gene Mutation;

NCIt synonyms : TPOR Gene Mutation; c-MPL Gene Mutation; CD110 Gene Mutation; Myeloproliferative Leukemia Virus Oncogene Gene Mutation; MPL Proto-Oncogene, Thrombopoietin Receptor Gene Mutation;

NCIt related terms : MPL;

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

NCI Metathesaurus CUI : CL508040;

Details

Origin ID

C126821;

UMLS CUI

C4288792;

Automatic exact mappings (from CISMeF team)
- MPL gene mutation [MedDRA Preferred Term]
- MPL proto-oncogene, thrombopoietin receptor [ORDO Gene]
- Mpl protooncogene, thrombopoietin receptor [OMIM gene]
- maximum permissible level [IUPAC Term]
- medial pes lemniscus [UBERON concept]
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)
- MPL gene mutation [MedDRA Preferred Term]
concept_is_in_subset
- CPTAC Acute Myeloid Leukemia Baseline Form [NCIt concept]
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- MPL NP_005364.1:p.W515K [NCIt concept]
- MPL NP_005364.1:p.W515L [NCIt concept]
- MPL Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- MPL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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