SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
Disease: Gitelman Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Graves' disease and Gitelman syndrome. 26041598 2016
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Clinical and genetic analyses of Chinese patients with Gitelman syndrome. 27173320 2016
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter. 26099046 2015
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR SLC26A3 gene analysis in patients with Bartter and Gitelman syndromes and the clinical characteristics of patients with unidentified mutations. 23756661 2013
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Concurrence of thyrotoxicosis and Gitelman's syndrome-associated hypokalemia-induced periodic paralysis. 22802996 2012
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. 22009145 2012
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Inheritance of an autosomal recessive disorder, Gitelman's syndrome, across two generations in one family. 21628937 2011
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR A case of Gitelman syndrome associated with idiopathic intracranial hypertension. 21757836 2011
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome. 17873326 2007
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. 17654016 2007
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome. 17873326 2007
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. 16429844 2006
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR While the T180K variation was just a polymorphism, the L849H mutation was confirmed to be a loss-of-function mutation and appears to be responsible for the Gitelman's syndrome. 16471174 2005
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation BEFREE While the T180K variation was just a polymorphism, the L849H mutation was confirmed to be a loss-of-function mutation and appears to be responsible for the Gitelman's syndrome. 16471174 2005
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome. 15687331 2005
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Although the blood pressure levels of subjects heterozygous for the T180K, A569V, or L849H genotype were not significantly different from those of wild-type subjects, urine pH in subjects with GS mutations was significantly higher than that in subjects without mutations. 15198479 2004
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. 15069170 2004
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. 15069170 2004
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis. 12911530 2003
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome. 11940055 2002
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. 12008755 2002
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 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
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. 11168953 2001
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. 10988270 2000
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. 10616841 2000