SLC20A2, solute carrier family 20 member 2, 6575

N. diseases: 104; N. variants: 36
Disease: Idiopathic basal ganglia calcification 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1357615935
rs1357615935
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. 23406454 2013
dbSNP: rs1357615935
rs1357615935
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. 24065723 2013
dbSNP: rs1357615935
rs1357615935
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 22327515 2012
dbSNP: rs1357615935
rs1357615935
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. 24463626 2014
dbSNP: rs1357615935
rs1357615935
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 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
dbSNP: rs1357615935
rs1357615935
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. 23939468 2013
dbSNP: rs1357615935
rs1357615935
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Primary familial brain calcification: Genetic analysis and clinical spectrum. 25284758 2014
dbSNP: rs1357615935
rs1357615935
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. 23334463 2013
dbSNP: rs1388992742
rs1388992742
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. 24463626 2014
dbSNP: rs1388992742
rs1388992742
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Primary familial brain calcification: Genetic analysis and clinical spectrum. 25284758 2014
dbSNP: rs1388992742
rs1388992742
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. 23939468 2013
dbSNP: rs1388992742
rs1388992742
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 22327515 2012
dbSNP: rs1388992742
rs1388992742
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. 24065723 2013
dbSNP: rs1388992742
rs1388992742
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. 23406454 2013
dbSNP: rs1388992742
rs1388992742
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. 23334463 2013
dbSNP: rs1388992742
rs1388992742
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 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
dbSNP: rs1554561099
rs1554561099
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 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
dbSNP: rs1554561099
rs1554561099
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 22327515 2012
dbSNP: rs1554561099
rs1554561099
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. 24065723 2013
dbSNP: rs1554561099
rs1554561099
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. 24463626 2014
dbSNP: rs1554561099
rs1554561099
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. 23939468 2013
dbSNP: rs1554561099
rs1554561099
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. 23334463 2013
dbSNP: rs1554561099
rs1554561099
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Primary familial brain calcification: Genetic analysis and clinical spectrum. 25284758 2014
dbSNP: rs1554561099
rs1554561099
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		0.700 GeneticVariation UNIPROT Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. 23406454 2013
dbSNP: rs1563431044
rs1563431044
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C4551624
Disease:
Idiopathic basal ganglia calcification 1 		T 0.700 GeneticVariation CLINVAR