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 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 GeneticVariation disease BEFREE Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea. 31499577 2019
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 Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. 28644346 2017
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 CausalMutation disease CLINVAR Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. 28644346 2017
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease UNIPROT Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. 28644346 2017
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 CausalMutation disease CLINVAR Surgical consequences in infants with delayed diagnosis of congenital chloride diarrhea. 29086717 2017
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 CausalMutation disease CLINVAR SLC26A3 gene mutations in Tunisian patients with congenital chloride diarrhea. 27525615 2016
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 CausalMutation disease CLINVAR Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis. 25568271 2015
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 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 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 GermlineCausalMutation disease ORPHANET Update on SLC26A3 mutations in congenital chloride diarrhea. 21394828 2011
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease UNIPROT Update on SLC26A3 mutations in congenital chloride diarrhea. 21394828 2011
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 CausalMutation disease CLINVAR Three cases of a rare disease, congenital chloride diarrhea, summons up the variation in the clinical course and significance of early diagnosis and adequate treatment in the prevention of intellectual disability. 21853658 2011
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease BEFREE Update on SLC26A3 mutations in congenital chloride diarrhea. 21394828 2011
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 BEFREE She was diagnosed with congenital chloride diarrhea based on high fecal Cl- level and SLC26A3 gene c.2025_2026insATC mutation at the age of eight months. 21332001 2010
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease BEFREE The molecular diagnosis was based on the finding of a homozygous missense D652N mutation at a position in SLC26A3 (the known congenital chloride diarrhea locus) that is virtually completely conserved in orthologues and paralogues from invertebrates to humans, and clinical follow-up confirmed the diagnosis. 19861545 2009
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 GeneticVariation disease UNIPROT The molecular diagnosis was based on the finding of a homozygous missense D652N mutation at a position in SLC26A3 (the known congenital chloride diarrhea locus) that is virtually completely conserved in orthologues and paralogues from invertebrates to humans, and clinical follow-up confirmed the diagnosis. 19861545 2009
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 CausalMutation disease CLINVAR Polyhydramnios and abdominal distention in a newborn. 18847625 2008