MPL Gene - CISMeF

Preferred Label : MPL Gene;

NCIt synonyms : MPL Proto-Oncogene, Thrombopoietin Receptor Gene;

NCIt related terms : MPL;

CISMeF acronym : MPL;

NCIt definition : This gene plays a regulatory role in megakaryocytopoiesis and platelet formation.;

Détails

Origin ID

C18411;

UMLS CUI

C0812295;

Automatic exact mappings (from CISMeF team)
- MPL gene [LOINC component]
- MPL proto-oncogene, thrombopoietin receptor [ORDO Gene]
- Mpl protooncogene, thrombopoietin receptor [OMIM gene]
- maximum permissible level [IUPAC Term]
- medial pes lemniscus [UBERON concept]
HGNC gene
- MPL proto-oncogene, thrombopoietin receptor [HGNC gene]
OMIM relation
- Mpl protooncogene, thrombopoietin receptor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- MPL gene [LOINC component]
- MPL proto-oncogene, thrombopoietin receptor [HGNC gene]
- Mpl protooncogene, thrombopoietin receptor [OMIM gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Thrombopoietin Receptor [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- MPL Gene Mutation [NCIt concept]
- MPL NM_005373.2:c.1543_1544delinsAA [NCIt concept]
- MPL NM_005373.2:c.1543_1545delinsAAA [NCIt concept]
- MPL NM_005373.2:c.1544G>T [NCIt concept]
- MPL NP_005364.1:p.W515K [NCIt concept]
- MPL NP_005364.1:p.W515L [NCIt concept]
- MPL Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Myeloproliferative Neoplasm with MPL Mutation [NCIt concept]
gene_mapped_to_disease
- Congenital Amegakaryocytic Thrombocytopenia [NCIt concept]
- Essential Thrombocythemia with MPL Mutation [NCIt concept]
- Myeloproliferative Neoplasm with MPL Mutation [NCIt concept]
- Primary Myelofibrosis with MPL Mutation [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Megakaryocyte Differentiation [NCIt concept]
- Receptor Signaling [NCIt concept]
- Thrombopoiesis [NCIt concept]
genetic_biomarker_related_to
- Congenital Amegakaryocytic Thrombocytopenia [NCIt concept]

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

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