Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		disease 1.000 strong 1.000 1 0 2013 2019
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		disease 0.800 strong 1.000 2 0 2013 2017
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		disease 0.730 strong 1.000 1 0 2015 2019
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		disease 0.710 strong 1.000 2 0 2013 2015
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C1866182
Disease: Penttinen-Aula syndrome
Penttinen-Aula syndrome 		disease 0.710 strong 1.000 1 0 2015 2019
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		disease 0.700 None 1.000 3 0 2013 2015
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis 		disease 0.500 strong 1.000 1 0 2013 2019
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.400 None 1.000 2 0 2014 2015
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 strong 1.000 1 0 2017 2017