SLC5A2, solute carrier family 5 member 2, 6524

N. diseases: 214; N. variants: 20
Disease: Glycosuria, Renal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 Biomarker disease BEFREE Sodium-glucose cotransporter-2 (SGLT2) inhibitors are a novel class of drugs that lower glucose by inducing renal glycosuria. 30684076 2020
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 GeneticVariation disease BEFREE Mutations in the SLC5A2 gene are recently found to be responsible for the inherited renal glucosuria, while undifferentiated connective tissue disease (UCTD) was not considered pathogenic for renal glucosuria. 30558067 2018
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 GeneticVariation disease BEFREE SLC5A2 and HNF1A mutations partially explain renal glycosuria in patients with T2DM. 28324025 2017
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 GeneticVariation disease BEFREE Here we present data on a large pedigree with renal glycosuria due to two mutations (c.300-303+2del and p.A343V) in the SLC5A2 gene. 26735923 2016
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 Biomarker disease GENOMICS_ENGLAND Genetic analysis revealed a separate, undescribed heterozygous mutation (c.265G>A; p.A89T) in the sodium/glucose cotransporter 2-encoding gene SGLT2 (also known as SLC5A2) in the family that segregated with the renal glucosuria phenotype. 26376857 2016
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 GeneticVariation disease BEFREE Novel SLC5A2 variants contribute to renal glucosuria in Chinese families: abnormal expression and dysfunction of variant SLC5A2. 25339128 2015
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 GermlineCausalMutation disease ORPHANET Clinical and genetic analysis in a patient with primary renal glucosuria: Identification of a novel mutation in the SLC5A2 gene. 24255686 2013
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 GermlineCausalMutation disease ORPHANET The probands were either heterozygous or compound heterozygous for SGLT2 mutations, and had glucosuria quantified at 6-27 g/day. 21165652 2011
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 CausalMutation disease CLINVAR Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion. 18622023 2008
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 GeneticVariation disease BEFREE A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. 15610225 2005
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 GermlineCausalMutation disease ORPHANET These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria. 14614622 2004
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 GeneticVariation disease BEFREE These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria. 14614622 2004
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 GeneticVariation disease BEFREE Renal glucosuria due to SGLT2 mutations. 15110322 2004
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 GeneticVariation disease UNIPROT These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria. 14614622 2004
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 CausalMutation disease CLINVAR Molecular analysis of the SGLT2 gene in patients with renal glucosuria. 14569097 2003
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 GeneticVariation disease BEFREE Fourteen individuals (including the original patient with 'renal glucosuria type 0') were homozygous or compound heterozygous for an SGLT2 mutation resulting in glucosuria in the range of 14.6 to 202 g/1.73 m(2)/d (81 - 1120 mmol/1.73 m(2)/d). 14569097 2003
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 Biomarker disease BEFREE The Na(+)/glucose cotransporter gene SGLT2 (= SLC5A2) was analyzed in a Turkish patient with congenital isolated renal glucosuria. 12436245 2002
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 GeneticVariation disease CLINVAR
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.800 Biomarker disease CTD_human