PDGFRA Gene - CISMeF

Preferred Label : PDGFRA Gene;

NCIt synonyms : PDGFRA; Platelet Derived Growth Factor Receptor Alpha Gene;

CISMeF acronym : PDGFRA;

NCIt definition : This gene plays a role in mitogenic activities affecting mesenchymal cells and is involved in receptor tyrosine kinase signal transduction.;

Details

Origin ID

C24666;

UMLS CUI

C1335201;

Automatic exact mappings (from CISMeF team)
- PDGFRA gene [LOINC component]
- Platelet-derived growth factor receptor, alpha [OMIM gene]
- platelet derived growth factor receptor alpha [ORDO Gene]
- receptor, platelet-derived growth factor alpha [MeSH Descriptor]
HGNC gene
- platelet derived growth factor receptor alpha [HGNC gene]
OMIM relation
- Platelet-derived growth factor receptor, alpha [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PDGFRA gene [LOINC component]
- Platelet-derived growth factor receptor, alpha [OMIM gene]
- platelet derived growth factor receptor alpha [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]
- Pediatric Oncology Target Genes/Proteins Terminology [NCIt concept]
gene_encodes_gene_product
- Platelet-Derived Growth Factor Receptor Alpha [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- BCR-PDGFRA Fusion Protein Expression [NCIt concept]
- FIP1L1-PDGFRalpha Fusion Protein Expression [NCIt concept]
- PDGFRA Exon 12 Mutation [NCIt concept]
- PDGFRA Exon 14 Mutation [NCIt concept]
- PDGFRA Exon 18 Mutation [NCIt concept]
- PDGFRA Gene Amplification [NCIt concept]
- PDGFRA Gene Mutation [NCIt concept]
- PDGFRA Gene Rearrangement [NCIt concept]
- PDGFRA NM_006206.4:c.2525A>T [NCIt concept]
- PDGFRA NM_006206.6:c.1153_1154delinsTC [NCIt concept]
- PDGFRA NM_006206.6:c.1153_1154delinsTT [NCIt concept]
- PDGFRA NM_006206.6:c.1154_1155delinsTA [NCIt concept]
- PDGFRA NM_006206.6:c.1154_1155delinsTT [NCIt concept]
- PDGFRA NP_006197.1:p.D842V [NCIt concept]
- PDGFRA NP_006197.1:p.K385I [NCIt concept]
- PDGFRA NP_006197.1:p.K385L [NCIt concept]
- PDGFRA NP_006197.1:p.K385X [NCIt concept]
- PDGFRA Protein Overexpression [NCIt concept]
- PDGFRA Protein Variant [NCIt concept]
- t(4;22)(q12;q11) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Gastrointestinal Stromal Tumor with PDGFRA Gene Mutation [NCIt concept]
- Hereditary Gastrointestinal Stromal Tumor [NCIt concept]
- Inflammatory Fibroid Polyp [NCIt concept]
- Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement [NCIt concept]
gene_mapped_to_disease
- Chronic Eosinophilic Leukemia with FIP1L1-PDGFRA [NCIt concept]
- Gastrointestinal Stromal Tumor with PDGFRA Gene Mutation [NCIt concept]
- Hereditary Gastrointestinal Stromal Tumor [NCIt concept]
- Inflammatory Fibroid Polyp [NCIt concept]
- Myeloid/Lymphoid Neoplasms with PDGFRA 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
- BCR/PDGFRA Fusion Gene [NCIt concept]
- BCR/PDGFRA Fusion Protein [NCIt concept]
- FIP1L1/PDGFRA Fusion Gene [NCIt concept]
- FIP1L1/PDGFRA Fusion Protein [NCIt concept]
- Hereditary Gastrointestinal Stromal Tumor [NCIt concept]
- Non-synonymous PDGFR Family Gene Mutation [NCIt concept]
- Not Known if PDGFRA Mutation Analysis Was Performed [NCIt concept]
- PDGFR Antibody [NCIt concept]
- PDGFR Family Fusion Gene [NCIt concept]
- PDGFR Family Fusion Protein [NCIt concept]
- PDGFR Family Gene Fusion Positive [NCIt concept]
- PDGFR Family Gene Mutation [NCIt concept]
- PDGFR Gene Amplification [NCIt concept]
- PDGFR Positive [NCIt concept]
- PDGFR Protein Overexpression [NCIt concept]
- PDGFRA Antibody [NCIt concept]
- PDGFRA D842V Negative [NCIt concept]
- PDGFRA Gene Fusion Positive [NCIt concept]
- PDGFRA Gene Mutation Negative [NCIt concept]
- PDGFRA Mutation Analysis [NCIt concept]
- PDGFRA Mutation Analysis Testing Method [NCIt concept]
- PDGFRA Mutation Analysis Was Not Performed [NCIt concept]
- PDGFRA Mutation Analysis Was Performed [NCIt concept]
- PDGFRA Mutation and/or Amplification Indicator [NCIt concept]
- PDGFRA Positive [NCIt concept]
- PROCR/PDGFRA/ZEB1 Positive Cells [NCIt concept]
- Specify PDGFRA Exons Assessed Question [NCIt concept]
- Specify PDGFRA Mutation [NCIt concept]
- Was PDGFRA Mutation Analysis Performed Question [NCIt concept]

Keyword's position in hierarchy(ies) :

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