CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
Disease: Kidney Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.030 AlteredExpression group BEFREE To investigate whether ClC-5 is expressed in the glomerular compartment and whether it has a role in proteinuric nephropathies. 23029130 2012
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.030 GeneticVariation group BEFREE In this review, we focus on recent discoveries regarding molecular mechanisms underlying the regulated chloride:proton antiporter activity of ClC-5, the protein mutated in the Dent's disease-a kidney disease presenting with proteinuria and renal failure in severe cases. 20049483 2010
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.030 Biomarker group BEFREE Among eight mammalian CLC chloride channels expressed in the kidney, three (CLC-K1, CLC-K2, and CLC-5) were identified to be related to kidney diseases in humans or mice. 11053039 2000