rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
0.810
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
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
0.810
GeneticVariation
UNIPROT
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.
8900229
1996
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
0.810
GeneticVariation
UNIPROT
Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome.
8954067
1996
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
0.810
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
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
A
0.810
CausalMutation
CLINVAR
Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.
10616841
2000
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
0.810
GeneticVariation
UNIPROT
Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.
10616841
2000
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
0.810
GeneticVariation
UNIPROT
Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.
10988270
2000
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
0.810
GeneticVariation
UNIPROT
Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.
11168953
2001
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
0.810
GeneticVariation
UNIPROT
Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome.
11940055
2002
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
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
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
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
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
A
0.810
CausalMutation
CLINVAR
Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis.
12911530
2003
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
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
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
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
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
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
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
0.810
GeneticVariation
UNIPROT
Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.
15687331
2005
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
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
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
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
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
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
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
0.810
GeneticVariation
UNIPROT
Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.
17654016
2007
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
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
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
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
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
A
0.810
CausalMutation
CLINVAR
Inheritance of an autosomal recessive disorder, Gitelman's syndrome, across two generations in one family.
21628937
2011
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
A
0.810
CausalMutation
CLINVAR
A case of Gitelman syndrome associated with idiopathic intracranial hypertension.
21757836
2011
rs185927948
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
Gitelman Syndrome
0.810
GeneticVariation
UNIPROT
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
22009145
2012