Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker GENOMICS_ENGLAND Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. 25292412

2015
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker GENOMICS_ENGLAND Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology. 24796542

2014
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker GENOMICS_ENGLAND