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: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter. 26099046 2015
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. 22009145 2012
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. 17654016 2007
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome. 17873326 2007
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. 16429844 2006
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome. 15687331 2005
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. 15069170 2004
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome. 11940055 2002
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 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: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 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: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. 11168953 2001
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT Although further in vitro study is required to prove that the mutations are responsible for GS, it is possible that Thr180Lys and Arg642Cys mutations might be common mutations in Japanese GS. 10616841 2000
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation BEFREE Although further in vitro study is required to prove that the mutations are responsible for GS, it is possible that Thr180Lys and Arg642Cys mutations might be common mutations in Japanese GS. 10616841 2000
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. 10988270 2000
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 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
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. 8900229 1996
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome. 8954067 1996
dbSNP: rs146158333
rs146158333
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 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