Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515632
rs397515632
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
CUI: C3809645
Disease:
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.800 GeneticVariation UNIPROT Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification. 26599395 2015
dbSNP: rs397515632
rs397515632
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
CUI: C3809645
Disease:
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. 23913003 2013
dbSNP: rs397515632
rs397515632
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
CUI: C3809645
Disease:
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397515631
rs397515631
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
CUI: C3809645
Disease:
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397515633
rs397515633
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
CUI: C3809645
Disease:
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs398122398
rs398122398
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
CUI: C3809645
Disease:
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		G 0.700 CausalMutation CLINVAR
dbSNP: rs398122399
rs398122399
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
CUI: C3809645
Disease:
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		T 0.700 CausalMutation CLINVAR