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 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 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 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 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 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 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 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 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 SLC26A3 mutations in congenital chloride diarrhea. 12442266 2002
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 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
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 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 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