Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.710 Biomarker disease GENOMICS_ENGLAND Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. 26129893 2015
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.710 GeneticVariation disease BEFREE Recently, heterozygous PDGFRB mutations have been described in patients diagnosed with idiopathic basal ganglia calcification (IBGC or Fahr disease), a rare inherited neurological disorder. 25292412 2015
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.710 Biomarker disease 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
0.710 GermlineCausalMutation disease ORPHANET Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. 23255827 2013
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.710 Biomarker disease MGD