DisGeNET - a database of gene-disease associations

SLC20A2, solute carrier family 20 member 2, 6575

N. diseases: 104; N. variants: 36

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1901282

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.800

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs387906652

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906652

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

CUI:	C4551624
Disease:

Idiopathic basal ganglia calcification 1

0.800

GeneticVariation

UNIPROT

Primary familial brain calcification: Genetic analysis and clinical spectrum.

25284758

2014

dbSNP:

rs387906653

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

CUI:	C4551624
Disease:

Idiopathic basal ganglia calcification 1

0.800

GeneticVariation

UNIPROT

Primary familial brain calcification: Genetic analysis and clinical spectrum.

25284758

2014

dbSNP:

rs387906653

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906654

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

CUI:	C4551624
Disease:

Idiopathic basal ganglia calcification 1

0.800

GeneticVariation

UNIPROT

Primary familial brain calcification: Genetic analysis and clinical spectrum.

25284758

2014

dbSNP:

rs387906654

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906652

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906652

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906652

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906652

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906653

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906653

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906653

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906653

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906654

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906654

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906654

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906654

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs1901282

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.800

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs387906652

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906653

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906653

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906654

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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

dbSNP:

rs387906652

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

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