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PDGFRB - platelet derived growth factor receptor beta
- Synonym(s) : CD140b, JTK12, PDGFR1
- Previous symbols and names : PDGFR, platelet-derived growth factor receptor, beta polypeptide
- Type : gene with protein product
- Chromosomal location : 5q32
- OMIM: 173410
- HGNC: 8804
- UniProtKB: P09619
- Genatlas: PDGFRB
- Ensembl: ENSG00000113721
- IUPHAR-DB: 1804
- Reactome: P09619
- LOVD: PDGFRB
Diseases list
- Disease-causing germline mutation(s) in Bilateral striopallidodentate calcinosis
- Disease-causing germline mutation(s) in Infantile myofibromatosis
- Disease-causing germline mutation(s) in Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
- Disease-causing germline mutation(s) (gain of function) in Acroosteolysis-keloid-like lesions-premature aging syndrome
- Part of a fusion gene in Chronic myelomonocytic leukemia
- Part of a fusion gene in Chronic myeloproliferative disease, unclassifiable
- Part of a fusion gene in Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
- Part of a fusion gene in Primary hypereosinophilic syndrome
: AssessedAdditional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.