DisGeNET - a database of gene-disease associations

SLC20A2, solute carrier family 20 member 2, 6575

N. diseases: 104; N. variants: 36

Disease: Idiopathic basal ganglia calcification 1 ×

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:

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

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

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

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

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

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:

rs200010919

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:

rs200010919

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:

rs201836672

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:

rs201836672

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:

rs748252183

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:

rs748252183

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:

rs763252801

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:

rs763252801

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:

rs775911275

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:

rs775911275

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

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

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

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

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

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

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

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

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

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