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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
ORPHA:1980 
- Disease-causing germline mutation(s) in Infantile myofibromatosis
ORPHA:2591 - Disease-causing germline mutation(s) in Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
ORPHA:477831 - Disease-causing germline mutation(s) (gain of function) in Acroosteolysis-keloid-like lesions-premature aging syndrome
ORPHA:363665 - Part of a fusion gene in Chronic myelomonocytic leukemia
ORPHA:98823 - Part of a fusion gene in Chronic myeloproliferative disease, unclassifiable
ORPHA:86830 - Part of a fusion gene in Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
ORPHA:168950 - Part of a fusion gene in Primary hypereosinophilic syndrome
ORPHA:314950
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
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