Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 GeneticVariation disease BEFREE Missense variants located to the "molecular brake" in the tyrosine kinase hinge region of platelet-derived growth factor receptor-β, encoded by PFGFRB, can cause Penttinen-type (Val665Ala) and Penttinen-like (Asn666His) premature ageing syndromes, as well as infantile myofibromatosis (Asn666Lys and Pro660Thr). 30573803 2019
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 GeneticVariation disease BEFREE Here, we report a patient harboring a novel postzygotic variant in PDGFRB (c.1682_1684del, p.[Arg561_Tyr562delinsHis]) and presenting severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. 31004414 2019
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 GeneticVariation disease BEFREE Frequency of gain-of-function PDGFRB mutations in sporadic myofibroma and myofibromatosis. 31017643 2019
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 GeneticVariation disease BEFREE We report a case of infantile myofibromatosis with predominant posterior fossa extradural involvement in a 14-year-old adolescent girl with a confirmed mutation in the PDGFRB gene. 30103666 2019
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 GeneticVariation disease BEFREE PurposeHeterozygous germ-line activating mutations in PDGFRB cause Kosaki and Penttinen syndromes and myofibromatosis. 28726812 2018
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 GeneticVariation disease BEFREE This study aimed to analyze the phosphorylation of important kinases in the NSTS-47 cell line derived from a tumor of a boy with infantile myofibromatosis who harbored the p.R561C mutation in PDGFR-beta. 30200486 2018
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 Biomarker disease BEFREE In this study, we sequenced PDGFRB, which encodes a receptor tyrosine kinase, in 16 cases of myofibromatosis or solitary myofibroma. 28334876 2017
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 GeneticVariation disease BEFREE As PDGFRB alterations are present in myopericytoma/myopericytomatosis and infantile myofibromatosis/myofibroma, these entities indeed lie within a histogenetic continuum. 28505006 2017
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 GeneticVariation disease BEFREE Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene. 28183292 2017
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 GeneticVariation disease BEFREE In conclusion, the PDGFRB mutations previously identified in familial IM and overgrowth syndrome activate the receptor in the absence of ligand, supporting the hypothesis that these mutations cause the diseases. 26455322 2016
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 GeneticVariation disease BEFREE We report here two siblings with infantile myofibromatosis and with a PDGFRB mutation identified by exome sequence analysis. 25158255 2014
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 Biomarker disease BEFREE PDGFR-β promotes growth of mesenchymal cells, including blood vessels and smooth muscles, which are affected in IM. 23731537 2013
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 Biomarker disease GENOMICS_ENGLAND PDGFR-β promotes growth of mesenchymal cells, including blood vessels and smooth muscles, which are affected in IM. 23731537 2013
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 GeneticVariation disease BEFREE Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment. 23731542 2013
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 CausalMutation disease CLINVAR
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 Biomarker disease HPO
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.500 Biomarker disease GENOMICS_ENGLAND