Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder)
0.500 Biomarker disease GENOMICS_ENGLAND White matter involvement in a family with a novel PDGFB mutation. 27227165 2016
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder)
0.500 Biomarker disease GENOMICS_ENGLAND First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study. 25211641 2015
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder)
0.500 GermlineCausalMutation disease ORPHANET Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. 23913003 2013