DisGeNET - a database of gene-disease associations

SLC2A9, solute carrier family 2 member 9, 56606

N. diseases: 74; N. variants: 389

Disease: Hypouricemia, Renal, 2 ×

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:

rs181509591

Entrez Id:	56606;105374476
Gene Symbol:	SLC2A9;LOC105374476

SLC2A9;LOC105374476

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.800

GeneticVariation

UNIPROT

Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.

21810765

2012

dbSNP:

rs776127501

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.800

GeneticVariation

UNIPROT

Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.

21810765

2012

dbSNP:

rs863225072

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.800

GeneticVariation

UNIPROT

Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.

21810765

2012

dbSNP:

rs181509591

Entrez Id:	56606;105374476
Gene Symbol:	SLC2A9;LOC105374476

SLC2A9;LOC105374476

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.800

GeneticVariation

UNIPROT

Homozygous SLC2A9 mutations cause severe renal hypouricemia.

19926891

2010

dbSNP:

rs776127501

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.800

GeneticVariation

UNIPROT

Homozygous SLC2A9 mutations cause severe renal hypouricemia.

19926891

2010

dbSNP:

rs863225072

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.800

GeneticVariation

UNIPROT

Homozygous SLC2A9 mutations cause severe renal hypouricemia.

19926891

2010

dbSNP:

rs181509591

Entrez Id:	56606;105374476
Gene Symbol:	SLC2A9;LOC105374476

SLC2A9;LOC105374476

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.800

GeneticVariation

UNIPROT

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

19026395

2008

dbSNP:

rs776127501

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.800

GeneticVariation

UNIPROT

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

19026395

2008

dbSNP:

rs863225072

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.800

GeneticVariation

UNIPROT

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

19026395

2008

dbSNP:

rs181509591

Entrez Id:	56606;105374476
Gene Symbol:	SLC2A9;LOC105374476

SLC2A9;LOC105374476

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs776127501

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs863225072

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs121908321

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.710

GeneticVariation

BEFREE

This is the second report indicating RHUC2 patient due to GLUT9 mutation R380W.

24940677

2014

dbSNP:

rs121908321

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.710

GeneticVariation

UNIPROT

Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.

21810765

2012

dbSNP:

rs121908321

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.710

GeneticVariation

UNIPROT

Homozygous SLC2A9 mutations cause severe renal hypouricemia.

19926891

2010

dbSNP:

rs121908321

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.710

GeneticVariation

UNIPROT

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

19026395

2008

dbSNP:

rs121908322

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.700

GeneticVariation

UNIPROT

Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.

21810765

2012

dbSNP:

rs121908322

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.700

GeneticVariation

UNIPROT

Homozygous SLC2A9 mutations cause severe renal hypouricemia.

19926891

2010

dbSNP:

rs121908322

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.700

GeneticVariation

UNIPROT

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

19026395

2008

dbSNP:

rs121908323

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.700

CausalMutation

CLINVAR

dbSNP:

rs775438172

Entrez Id:	56606
Gene Symbol:	SLC2A9

SLC2A9

CUI:	C2677549
Disease:

Hypouricemia, Renal, 2

0.010

GeneticVariation

BEFREE

In conclusion, to the best of our knowledge, this is the first report of a RHUC2 patient with a GLUT9 mutation, p.W286X, which may be a pathogenic mutation of RHUC2.

31638209

2019