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 		T 0.830 CausalMutation CLINVAR Clinical and genetic analyses of Chinese patients with Gitelman syndrome. 27173320 2016
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 		T 0.830 CausalMutation CLINVAR 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 		T 0.830 CausalMutation CLINVAR He had a homozygous mutation in the 179(th) nucleotide of Exon 1 on the SLC12A3 gene (p.Thr60Met) and his parents and sisters were diagnosed as carrier state of Gitelman's syndrome (GS). 27453715 2016
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 		T 0.830 CausalMutation CLINVAR Clinical severity of Gitelman syndrome determined by serum magnesium. 24776766 2014
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		T 0.830 CausalMutation CLINVAR 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 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 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 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 		T 0.830 CausalMutation CLINVAR Four mutations (p.T60M, p.T304M, p.T465P, and p.N611T) harbored by the two patients with both PA and GS were revealed to be loss-of-function variants. 19451210 2009
dbSNP: rs371443644
rs371443644
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		T 0.830 CausalMutation CLINVAR Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome. 19207868 2009
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 		T 0.830 CausalMutation CLINVAR 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 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 Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. 17654016 2007
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 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 		T 0.830 CausalMutation CLINVAR 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 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 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 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 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 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 Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. 10988270 2000