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 		0.810 GeneticVariation UNIPROT Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. 10616841 2000
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
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
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome. 8954067 1996
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
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
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. 8900229 1996