rs201945662, SLC12A3

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter. 26099046 2015
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation CLINVAR Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements. 23328711 2013
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation CLINVAR Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. 22009145 2012
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. 22009145 2012
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation CLINVAR Spectrum of mutations in Gitelman syndrome. 21415153 2011
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Gitelman syndrome. 21343949 2011
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation CLINVAR Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome. 21753071 2011
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation CLINVAR A thiazide test for the diagnosis of renal tubular hypokalemic disorders. 17699451 2007
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. 17654016 2007
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome. 17873326 2007
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. 16429844 2006
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome. 15687331 2005
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. 15069170 2004
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome. 12112667 2002
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation CLINVAR Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome. 12112667 2002
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome. 11940055 2002
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. 12008755 2002
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. 11168953 2001
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. 10988270 2000
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. 10616841 2000
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. 9734597 1998
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome. 8954067 1996
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. 8528245 1996
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.800 GeneticVariation UNIPROT Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. 8900229 1996