SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. 8900229 1996
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome. 17873326 2007
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. 10988270 2000
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation BEFREE Thr60Met may be the most common mutation in Chinese patients with GS. 18287808 2008
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter. 26099046 2015
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 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
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 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: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome. 15687331 2005
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. 22009145 2012
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation BEFREE A T60M mutation in the thiazide-sensitive sodium chloride cotransporter (NCC) is common in patients with Gitelman's syndrome (GS). 23833262 2013
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome. 11940055 2002
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation BEFREE T60M and D486N were most frequent and appear to be important candidate alleles in Chinese patients with GS. 27454426 2016
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. 16429844 2006
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT Clinical utility gene card for: Gitelman syndrome. 21343949 2011
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 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: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. 11168953 2001
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. 15069170 2004
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. 10616841 2000
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 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: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome. 8954067 1996
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.830 GeneticVariation UNIPROT Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. 17654016 2007
dbSNP: rs121909385
rs121909385
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.820 GeneticVariation UNIPROT Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. 8900229 1996
dbSNP: rs121909385
rs121909385
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.820 GeneticVariation UNIPROT Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. 10988270 2000
dbSNP: rs121909385
rs121909385
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.820 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: rs121909385
rs121909385
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.820 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