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 CausalMutation disease CLINVAR Polyhydramnios and abdominal distention in a newborn. 18847625 2008
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 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 Biomarker disease MGD slc26a3 (dra)-deficient mice display chloride-losing diarrhea, enhanced colonic proliferation, and distinct up-regulation of ion transporters in the colon. 17001077 2006
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 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 The COOH-terminal cytoplasmic domain of DRA is required for growth suppression, but an in-frame deletion (DeltaVal317) that causes congenital chloride diarrhea and results in a loss of anion transport had no effect on growth suppression, indicating that anion transport and growth suppression are independent functions of DRA. 12208765 2002
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 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 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 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 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 GeneticVariation disease BEFREE Update on SLC26A3 mutations in congenital chloride diarrhea. 21394828 2011