Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 Biomarker disease GENOMICS_ENGLAND White matter involvement in a family with a novel PDGFB mutation. 27227165 2016
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 GeneticVariation disease UNIPROT Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification. 26599395 2015
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 Biomarker disease GENOMICS_ENGLAND Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. 26129893 2015
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 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: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 GeneticVariation disease UNIPROT Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. 23913003 2013
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 Biomarker disease CTD_human
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 CausalMutation disease CLINVAR