SLC26A3, solute carrier family 26 member 3, 1811

N. diseases: 128; N. variants: 58
Disease: Central Core Myopathy (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.040 Biomarker disease BEFREE Genetic analysis of SLC26A3 provided definitive diagnosis of CCD. 31477378 2019
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.040 GeneticVariation disease BEFREE Our study provides an important insight of SLC26A3 SNPs in the regulation of the epithelial permeability and indicates that SLC26A3 rs386833481 is likely a causative mutation in the dysfunction of epithelial barrier of CCD, and correction of this SNP or increasing SLC26A3 function could be therapeutically beneficial for chronic diarrhea diseases. 31114672 2019
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.040 GeneticVariation disease BEFREE We detected the SLC26A3 gene variants responsible for CCD in two patients. 29849040 2018
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.040 GeneticVariation disease BEFREE We defined the SLC26A3 genotype of all 17 patients with CCD and identified 12 novel mutations. 28644346 2017