×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
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
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
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
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
0.800
GeneticVariation
disease
BEFREE
SLC5A2 and HNF1A mutations partially explain renal glycosuria in patients with T2DM.
28324025
2017
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
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
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
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
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
0.800
GeneticVariation
disease
BEFREE
Novel SLC5A2 variants contribute to renal glucosuria in Chinese families: abnormal expression and dysfunction of variant SLC5A2 .
25339128
2015
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
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
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
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
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
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
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
0.800
GeneticVariation
disease
BEFREE
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.
15610225
2005
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
0.800
GermlineCausalMutation
disease
ORPHANET
These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria .
14614622
2004
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
0.800
GeneticVariation
disease
BEFREE
These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria .
14614622
2004
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
0.800
GeneticVariation
disease
BEFREE
Renal glucosuria due to SGLT2 mutations.
15110322
2004
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
0.800
GeneticVariation
disease
UNIPROT
These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria .
14614622
2004
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
0.800
CausalMutation
disease
CLINVAR
Molecular analysis of the SGLT2 gene in patients with renal glucosuria.
14569097
2003
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
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
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
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
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
0.800
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6524
Gene Symbol:
SLC5A2
SLC5A2
0.800
Biomarker
disease
CTD_human