SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.100 Biomarker phenotype HPO
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.020 GeneticVariation disease BEFREE It has been appreciated for several years that WNK kinases affect NCC expression, following the discovery that mutations in WNK genes cause Gordon syndrome (pseudohypoaldosteronism type II), although the precise molecular mechanisms were unclear. 21088576 2011
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.020 GeneticVariation disease BEFREE FHHt (familial hyperkalaemic hypertension; also known as Gordon's syndrome) is a salt-dependent form of hypertension caused by mutations in the regulators of the thiazide-sensitive Na+-Cl- co-transporter NCC [also known as SLC12A3 (solute carrier family 12 member 3)] and is effectively treated by thiazide diuretics and/or dietary salt restriction. 24266877 2014
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 Biomarker disease BEFREE The aim of this study was to test a novel modified single chain anti-ED-B antibody (scFv) conjugated for near infrared fluorescence imaging (NIRF) with tetrasulfonated carbocyanine-maleimide (TSC-scFv) and to examine the association of ED-B with the presence of macrophages in a murine model of atherosclerosis. 17468934 2007
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE Taken together, our studies raise the possibility of a gene × environment interaction between heterozygous TSC gene mutations and gestational immune activation in the pathogenesis of TSC-related ASD. 21079609 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 GeneticVariation disease BEFREE The presence of autism/PDD may arise if the TSC gene mutations occur at critical stages of neural development in neural tissue of brain regions critical in the development of autism. 9813776 1998
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		0.010 GeneticVariation disease BEFREE Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review. 30409157 2018
CUI: C4048195
Disease: Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia 		0.010 GeneticVariation disease BEFREE Neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman's syndrome to mutations of NCCT and Bartter's syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR. 15056980 2004
CUI: C3715208
Disease: AV Block First Degree by ECG Finding
AV Block First Degree by ECG Finding 		0.100 Biomarker phenotype HPO
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.170 GeneticVariation disease BEFREE Gitelman's syndrome, caused by loss of function mutations in the Na-Cl cotransporter of the distal convoluted tubule (NCCT), features inherited hypokalemic alkalosis with so-called "normal" blood pressure. 11408395 2001
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.170 Biomarker disease BEFREE The renal-specific Na-Cl cotransporter (NCC) and Na-K-2Cl cotransporter (NKCC2) are involved in Gitelman and Bartter syndrome, respectively, autosomal recessive forms of metabolic alkalosis. 11826289 2002
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.170 Biomarker disease BEFREE Conversely, impaired function of the Na+,K+,2Cl- cotransporter (NKCC2), the renal outer medullary K+ channel (ROMK1), and the renal epithelial Cl- channel ClCKb/Barttin causes Bartter syndrome and defective Na+,Cl+ cotransporter (NCCT) Gitelman syndrome, salt-wasting disorders with hypotension. 15980941 2005
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.170 GeneticVariation disease BEFREE The hypocalciuric, hypomagnesemic variant of Bartter syndrome (Gitelman syndrome), presents in early adulthood with predominantly musculoskeletal symptoms and is due to mutations in the gene encoding the Na-Cl cotransporter (NCCT). 11780689 2001
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.170 GeneticVariation disease BEFREE Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and CLCNKB. 21631963 2011
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.170 GeneticVariation disease BEFREE Neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman's syndrome to mutations of NCCT and Bartter's syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR. 15056980 2004
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.170 Biomarker disease HPO
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.170 GeneticVariation disease BEFREE Based on published studies of this polymorphism in SLC12A3 and the features of the proband's father, we postulate that this polymorphism modifies the phenotype of Bartter syndrome in the proband to thiazide resistance. 22245519 2012
CUI: C1846343
Disease: Bartter syndrome, type 3
Bartter syndrome, type 3 		0.020 Biomarker disease BEFREE The causative gene for Gitelman syndrome, SLC12A3, and the causative gene for the classic Bartter syndrome, CLCNKB, were screened for disease-causing mutations by direct sequencing. 27173320 2016
CUI: C1846343
Disease: Bartter syndrome, type 3
Bartter syndrome, type 3 		0.020 GeneticVariation disease BEFREE These cases represent the first report of the simultaneous presence of heterozygous and compound heterozygous mutations in the SLC12A3 and CLCNKB genes, both of which are involved in renal salt losing tubulopathies, and confirm previous observations regarding classic Bartter syndrome phenotype variability in the same kindred. 16306206 2005
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 AlteredExpression disease BEFREE Recent data suggest that functional inactivation of TSC proteins might also be involved in the development of other diseases not associated with TSC, such as sporadic bladder cancer, breast cancer, ovarian carcinoma, gall bladder carcinoma, non-small-cell carcinoma of the lung, and Alzheimer's disease. 16713332 2006
CUI: C0344232
Disease: Blurred vision
Blurred vision 		0.100 Biomarker phenotype HPO
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 AlteredExpression disease BEFREE Recent data suggest that functional inactivation of TSC proteins might also be involved in the development of other diseases not associated with TSC, such as sporadic bladder cancer, breast cancer, ovarian carcinoma, gall bladder carcinoma, non-small-cell carcinoma of the lung, and Alzheimer's disease. 16713332 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 GeneticVariation disease BEFREE These performance gains of NCC-AUC are quite robust across 5 subtypes of breast cancer. 26092859 2015