Disease Term Disease ID Gene Symbol Classification References Source
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 C3809645 PDGFB Causal Pathogenic evidence from ClinVar 23913003, 25211641, 26129893, 26599395, 27227165 ClinVar
Idiopathic basal ganglia calcification 1 C4551624 PDGFB Causal Pathogenic evidence from ClinVar 23913003 ClinVar
PDGFRB Causal Pathogenic evidence from ClinVar - ClinVar
SLC20A2 Causal Pathogenic evidence from ClinVar 15955065, 22327515, 23334463, 23406454, 23939468, 24065723, 24463626, 25284758, 27726124 ClinVar
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 C3554321 PDGFRB Causal Pathogenic evidence from ClinVar 23255827, 24065723, 24796542, 25292412, 26129893, 26599395 ClinVar
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 C4225335 XPR1 Causal Pathogenic evidence from ClinVar 25938945, 27230854 ClinVar