PDGFRB Gene - CISMeF

Preferred Label : PDGFRB Gene;

NCIt synonyms : Platelet-Derived Growth Factor Receptor, Beta Polypeptide Gene; PDGFRB;

CISMeF acronym : PDGFRB;

NCIt definition : This gene plays a role in mitogenic activities affecting mesenchymal cells and a translocation in the gene results in chronic myelomonocytic leukemia.;

Details

Origin ID

C24667;

UMLS CUI

C1335202;

Automatic exact mappings (from CISMeF team)
- PDGFRB gene [LOINC component]
- Platelet-derived growth factor receptor, beta [OMIM gene]
- platelet derived growth factor receptor beta [ORDO Gene]
- receptor, Platelet-Derived growth factor beta [MeSH concept]
- receptor, platelet-derived growth factor beta [MeSH Descriptor]
HGNC gene
- platelet derived growth factor receptor beta [HGNC gene]
OMIM relation
- Platelet-derived growth factor receptor, beta [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PDGFRB gene [LOINC component]
- Platelet-derived growth factor receptor, beta [OMIM gene]
- platelet derived growth factor receptor beta [HGNC 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
- Platelet-Derived Growth Factor Receptor Beta [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- ETV6-PDGFRB Fusion Protein Expression [NCIt concept]
- PDGFRB Gene Amplification [NCIt concept]
- PDGFRB Gene Mutation [NCIt concept]
- PDGFRB Gene Rearrangement [NCIt concept]
- PDGFRB NP_002600.1:p.T681I [NCIt concept]
- PDGFRB Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Infantile Myofibromatosis 1 [NCIt concept]
- Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement [NCIt concept]
gene_mapped_to_disease
- Chronic Myelomonocytic Leukemia with Eosinophilia Associated with t(5;12)(q31;p12) [NCIt concept]
- Infantile Myofibromatosis 1 [NCIt concept]
- Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
genetic_biomarker_related_to
- ABL Class Rearrangement Positive Ph-Like B Acute Lymphoblastic Leukemia [NCIt concept]
- ABL1 and ABL2 and PDGFRB Gene Rearrangements in Blood or Tissue by FISH [NCIt concept]
- CCDC6/PDGFRB Fusion Gene [NCIt concept]
- CCDC6/PDGFRB Fusion Protein [NCIt concept]
- Cells with PDGFRB Gene Rearrangements/Cells Counted in Blood or Tissue by FISH [NCIt concept]
- EBF1/PDGFRB Fusion Gene [NCIt concept]
- EBF1/PDGFRB Fusion Protein [NCIt concept]
- ETV6/PDGFRB Fusion Gene [NCIt concept]
- ETV6/PDGFRB Fusion Protein [NCIt concept]
- Genetic Predisposition to Myofibromatosis [NCIt concept]
- HIP1/PDGFRB Fusion Gene [NCIt concept]
- HIP1/PDGFRB Fusion Protein [NCIt concept]
- Infantile Myofibromatosis 1 [NCIt concept]
- MYO18A/PDGFRB Fusion Gene [NCIt concept]
- MYO18A/PDGFRB Fusion Protein [NCIt concept]
- Myofibromatosis [NCIt concept]
- Non-synonymous PDGFR Family Gene Mutation [NCIt concept]
- PDGFR Family Gene Mutation [NCIt concept]
- PDGFR Gene Amplification [NCIt concept]
- PDGFR Positive [NCIt concept]
- PDGFR Protein Overexpression [NCIt concept]
- PDGFRB Gene Fusion Positive [NCIt concept]
- PDGFRB Gene Rearrangements [Interpretation] in Blood or Tissue by FISH Narrative [NCIt concept]
- PDGFRB Gene Rearrangements [Presence] in Blood or Tissue by FISH [NCIt concept]
- PDGFRB Positive [NCIt concept]
- PDGFRB/MYO18A Fusion Gene [NCIt concept]
- RABEP1/PDGFRB Fusion Gene [NCIt concept]
- RABEP1/PDGFRB Fusion Protein [NCIt concept]
- SPECC1/PDGFRB Fusion Gene [NCIt concept]
- SPECC1/PDGFRB Fusion Protein [NCIt concept]
- TRIP11/PDGFRB Fusion Gene [NCIt concept]
- TRIP11/PDGFRB Fusion Protein [NCIt concept]

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