DisGeNET - a database of gene-disease associations

SLC26A3, solute carrier family 26 member 3, 1811

N. diseases: 128; N. variants: 58

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:

rs121913030

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.

28644346

2017

dbSNP:

rs386833444

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.

28644346

2017

dbSNP:

rs386833446

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.

28644346

2017

dbSNP:

rs386833484

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.

28644346

2017

dbSNP:

rs386833487

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.

28644346

2017

dbSNP:

rs386833488

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.

28644346

2017

dbSNP:

rs386833489

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.

28644346

2017

dbSNP:

rs121913030

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

23274434

2013

dbSNP:

rs386833444

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

23274434

2013

dbSNP:

rs386833446

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

23274434

2013

dbSNP:

rs386833484

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

23274434

2013

dbSNP:

rs386833487

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

23274434

2013

dbSNP:

rs386833488

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

23274434

2013

dbSNP:

rs386833489

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

23274434

2013

dbSNP:

rs121913030

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.

22779076

2012

dbSNP:

rs386833444

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.

22779076

2012

dbSNP:

rs386833446

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.

22779076

2012

dbSNP:

rs386833484

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.

22779076

2012

dbSNP:

rs386833487

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.

22779076

2012

dbSNP:

rs386833488

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.

22779076

2012

dbSNP:

rs386833489

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.

22779076

2012

dbSNP:

rs121913030

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Update on SLC26A3 mutations in congenital chloride diarrhea.

21394828

2011

dbSNP:

rs121913030

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea.

21150650

2011

dbSNP:

rs386833444

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Update on SLC26A3 mutations in congenital chloride diarrhea.

21394828

2011

dbSNP:

rs386833444

Entrez Id:	1811
Gene Symbol:	SLC26A3

SLC26A3

CUI:	C0267662
Disease:

Congenital chloride diarrhea

0.800

GeneticVariation

UNIPROT

Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea.

21150650

2011