Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		0.800 CausalMutation CLINVAR 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
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		0.800 CausalMutation CLINVAR PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib. 26455322

2016
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		0.800 CausalMutation CLINVAR A recurrent PDGFRB mutation causes familial infantile myofibromatosis. 23731537

2013
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		0.800 CausalMutation CLINVAR Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. 23731542

2013
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		0.800 GeneticVariation CLINVAR