Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE Humans with mutations in the SGLT2 gene show familial renal glucosuria. 31081587 2019
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE The present study provides a starting point for further investigation of the molecular pathogenesis of the SLC5A2 gene mutation in patients with FRG. 30942416 2019
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE SLC5A2 gene mutations are responsible for most FRG cases. 30593819 2019
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE We report the identification of a mutation in the solute carrier family 5 member 2 (SLC5A2) gene, which encodes sodium-glucose cotransporter 2, in a family with familial renal glucosuria. 31584752 2019
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE We also summarized the reported SLC5A2 mutations in the Chinese patients with FRG. 28365451 2017
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time. 26735923 2016
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE Here, we identified a FRG patient with urine glucose excretion 7.56 g/day and a novel SLC5A2 missense mutation, c.1891G > A/p.(E631K), by DNA sequencing. 27000029 2016
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 Biomarker disease BEFREE Variants in solute carrier family 5 (sodium-glucose cotransporter), member 2 (SLC5A2) have been reported in FRG patients. 25339128 2015
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE In the current work, the renal threshold for glucose excretion (RTG) was determined in an FRG cohort, with the purpose of characterizing the impact of SGLT2 mutations on renal glucose transport. 25896487 2015
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE DNA sequencing analysis of the SLC5A2 gene encoding the renal glucose transporter SGLT2 showed a homozygous frame-shift mutation (occurring after the glutamine at amino acid 168 and leading to premature termination of the protein at amino acid 186) diagnostic of familial renal glycosuria. 23871407 2013
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE Since the SGLTs reabsorb most of the filtered glucose (90%), it is not surprising that mutations in SLC5A2 cause familial renal glucosuria. 23651029 2013
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 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: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 Biomarker disease BEFREE Familial renal glucosuria (FRG) is an inherited renal tubular disorder characterized by persistent isolated glucosuria in the absence of hyperglycemia that is caused by mutations in the sodium-glucose cotransporter SGLT2 coding gene, SLC5A2. 22314875 2012
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GermlineCausalMutation disease ORPHANET Mutation of sodium/glucose co-transporter 2 (SGLT2) has been identified and was recently reported to be involved in FRG. 21165652 2011
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE Mutations in SLC5A2, the SGLT2 coding gene, are responsible for familial renal glucosuria (FRG), a genetic disorder characterized by glucosuria in the absence of both hyperglycemia and generalized proximal tubular dysfunction. 21358700 2011
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 Biomarker disease BEFREE Mutation of sodium/glucose co-transporter 2 (SGLT2) has been identified and was recently reported to be involved in FRG. 21165652 2011
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 Biomarker disease BEFREE It also considers congenital defects of sugar metabolism caused by aberrant expression of the SGLT1 in glucose-galactose malabsorption and the SGLT2 in familial renal glycosuria. 21049241 2010
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE A natural analogy is made of SGLT2 inhibition to observations with inactivating mutations of SGLT2 in patients with FRG, the hereditary condition that results in benign glucosuria. 19965550 2010
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE Familial renal glucosuria (FRG) is a rare renal tubular disorder caused by mutations within the SLC5A2 gene. 18622023 2008
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting. 16518345 2006
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GeneticVariation disease BEFREE We suggest that the generalized aminoaciduria accompanying FRG is a consequence of the severe impairment in glucose reabsorption, and is probably not directly related to the SGLT2 mutation. 15610225 2005
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria
0.400 GermlineCausalMutation disease ORPHANET Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. 14614622 2004