PDGFB wt Allele

Preferred Label : PDGFB wt Allele;

NCIt synonyms : PDGF2; SSV; v-SIS Homolog; SIS Gene; SIS; Platelet Derived Growth Factor Subunit B wt Allele; c-sis; PDGF-2; Oncogene SIS Gene; LL22NC03-10C3.2; Simian Sarcoma Viral Oncogene Homolog Gene; Platelet-Derived Growth Factor, Beta Polypeptide (Oncogene SIS) Gene; IBGC5; Platelet-Derived Growth Factor Beta Polypeptide (Simian Sarcoma Viral (v-sis) Oncogene Homolog) Gene; Platelet-Derived Growth Factor Beta Polypeptide Gene;

NCIt definition : Human PDGFB wild-type allele is located in the vicinity of 22q13.1 and is approximately 22 kb in length. This allele, which encodes platelet-derived growth factor subunit B protein, is involved in mitogenesis for mesenchymal cells. Mutations in the gene produce allelic variants that are associated with meningioma.;

NCIt note : Reciprocal t(17;22)(q22;q13) translocations with COL1A1 result in unregulated growth factor expression and are associated with DFSP.;

GenBank Accession Number : NM_002608;

Details

Origin ID

C51520;

UMLS CUI

C1705597;

Automatic exact mappings (from CISMeF team)
- Discomfort [MedDRA Preferred Term]
- Discomfort NOS [MedDRA LLT]
- Platelet-derived growth factor, beta polypeptide [OMIM gene]
- SI gene [LOINC component]
- biomedical engineering [MeSH Descriptor]
- clinical engineering [MeSH concept]
- genes [MeSH Descriptor]
- genes [MeSH concept]
- genes, vif [MeSH Descriptor]
- genetic material [ORDO Gene]
- health information systems [MeSH Descriptor]
- needle-exchange programs [MeSH Descriptor]
- persons [MeSH Descriptor]
- persons [MeSH concept]
- platelet derived growth factor subunit B [ORDO Gene]
- substance abuse treatment centers [MeSH Descriptor]
Currated CISMeF NLP mapping
- genes, sis [MeSH Descriptor]
- genes, sis [MeSH concept]
OMIM relation
- Platelet-derived growth factor, beta polypeptide [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Dermatofibrosarcoma Protuberans [NCIt concept]
- Meningioma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q12.3-q13.1 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- DBPB Transcriptional Activation Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Gap Junction Assembly Pathway [NCIt concept]
- Glioblastoma Multiforme Pathway [NCIt concept]
- MAPK Signaling Pathway [NCIt concept]
- Melanoma Pathway [NCIt concept]
- Nectin Adhesion Pathway [NCIt concept]
- PDGFR-beta Signaling Pathway [NCIt concept]
- PTPN1 Signaling Pathway [NCIt concept]
- Prostate Cancer Pathway [NCIt concept]
- Renal Cell Carcinoma Pathway [NCIt concept]
- Sphingosine 1-Phosphate Receptor 1 Signaling Pathway [NCIt concept]
- Sphingosine 1-Phosphate Receptor 3 Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Negative Regulation of Apoptosis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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