Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.700 Biomarker disease GENOMICS_ENGLAND Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. 25292412 2015
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.700 Biomarker disease GENOMICS_ENGLAND Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. 25292412 2015
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.700 GeneticVariation disease UNIPROT Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification. 26599395 2015
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		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: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology. 24796542 2014
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.700 GeneticVariation disease UNIPROT Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. 23255827 2013
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.700 GeneticVariation disease UNIPROT Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. 24065723 2013
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.700 Biomarker disease CTD_human
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.700 GeneticVariation disease CLINVAR
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.700 CausalMutation disease CLINVAR