rs387906653, SLC20A2

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Idiopathic basal ganglia calcification 1
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
0.800 GeneticVariation UNIPROT Primary familial brain calcification: Genetic analysis and clinical spectrum. 25284758 2014
Idiopathic basal ganglia calcification 1
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
0.800 GeneticVariation UNIPROT Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. 24463626 2014
Idiopathic basal ganglia calcification 1
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
0.800 GeneticVariation UNIPROT Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. 23939468 2013
Idiopathic basal ganglia calcification 1
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
0.800 GeneticVariation UNIPROT Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. 24065723 2013
Idiopathic basal ganglia calcification 1
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
0.800 GeneticVariation UNIPROT Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. 23406454 2013
Idiopathic basal ganglia calcification 1
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
0.800 GeneticVariation UNIPROT Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. 23334463 2013
Idiopathic basal ganglia calcification 1
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
0.800 GeneticVariation CLINVAR Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 22327515 2012
Idiopathic basal ganglia calcification 1
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
0.800 GeneticVariation UNIPROT Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 22327515 2012
Idiopathic basal ganglia calcification 1
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
0.800 GeneticVariation UNIPROT Evolutionary and experimental analyses of inorganic phosphate transporter PiT family reveals two related signature sequences harboring highly conserved aspartic acids critical for sodium-dependent phosphate transport function of human PiT2. 15955065 2005
Idiopathic basal ganglia calcification 1
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
0.800 CausalMutation CLINVAR
Idiopathic basal ganglia calcification 1
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
0.800 CausalMutation CLINVAR
Jaw pain
CUI: C0236000
Disease: Jaw pain
0.700 CausalMutation CLINVAR
Brisk reflexes
CUI: C2673700
Disease: Brisk reflexes
0.700 CausalMutation CLINVAR
Obsessive compulsive behavior
CUI: C0600104
Disease: Obsessive compulsive behavior
0.700 CausalMutation CLINVAR
Anxiety
CUI: C0003467
Disease: Anxiety
0.700 CausalMutation CLINVAR
Abnormality of coordination
CUI: C4023353
Disease: Abnormality of coordination
0.700 CausalMutation CLINVAR
Basal ganglia calcification
CUI: C1389280
Disease: Basal ganglia calcification
0.700 CausalMutation CLINVAR