SLC26A3, solute carrier family 26 member 3, 1811

N. diseases: 128; N. variants: 58
Disease: Congenital chloride diarrhea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease CLINVAR
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 Biomarker disease CTD_human
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease BEFREE Congenital chloride diarrhea is due to mutations in the intestinal Cl(-)/HCO(3)(-) exchange (SLC26A3) which results in sodium chloride and fluid depletion leading to hypochloremic and hypokalemic metabolic alkalosis. 18827800 2008
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease BEFREE Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene. 26637435 2016
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease BEFREE SLC26A3 mutations in congenital chloride diarrhea. 12442266 2002
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease BEFREE Solute carrier family 26, member 3 (Slc26a3), also termed downregulated-in-adenoma (DRA) is a member of the Slc26 family of anion transporters and is mutated in congenital chloride diarrhea. 29286110 2018
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease BEFREE A recent study has revealed that germline mutations of the down-regulated in adenoma (DRA) gene are a likely cause of a recessive intestinal absorption defect, congenital chloride diarrhea. 9482116 1998
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease UNIPROT Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. 9554749 1998
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease BEFREE Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. 9554749 1998
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease UNIPROT Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea. 21150650 2011
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease UNIPROT Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. 23274434 2013
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 CausalMutation disease CLINVAR Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. 9718329 1998
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease UNIPROT Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. 9718329 1998
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 Biomarker disease GENOMICS_ENGLAND Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report. 30635044 2019
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 CausalMutation disease CLINVAR Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. 24350656 2013
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease BEFREE Homozygous SLC26A3 mutations cause congenital chloride diarrhea with male subfertility, while homozygous CFTR mutations cause cystic fibrosis with male infertility. 29079751 2017
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease BEFREE Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea. 22779076 2012
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease UNIPROT Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea. 22779076 2012
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease BEFREE Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. 11524734 2001
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GermlineCausalMutation disease ORPHANET Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. 11524734 2001
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease UNIPROT Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. 11524734 2001
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease BEFREE Mutations in human DRA cause congenital chloride diarrhea, thereby raising the possibility that it functions as a Cl(-)/HCO(3)(-) exchanger. 10428871 1999
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease UNIPROT Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. 8896562 1996
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease BEFREE Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea. 31499577 2019