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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
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
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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.