CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
Disease: Dent disease 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease BEFREE Dent disease, an X-linked recessive renal tubulopathy, is caused by mutations in either CLCN5 (Dent disease 1) or OCRL (Dent disease 2). 24912603 2014
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease BEFREE Dent disease 1 is a rare cause of chronic kidney disease (CKD) in childhood secondary to mutations in the gene encoding the chloride-proton exchanger, CLC-5, which is found mainly in the proximal tubule. 27699523 2017
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease BEFREE The disease is caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes that are located on chromosome Xp11.22 and Xq25, respectively. 20946626 2010
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease BEFREE Such phenotype is not unusual and is often observed also in DD1 ClC-5 mutants not associated with Bartter like phenotype. 30405442 2018
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 Biomarker disease BEFREE Inactivating mutations of CLCN5, the gene encoding the 2Cl<sup>-</sup> /H<sup>+</sup> exchanger ClC-5, have been reported in patients with Dent disease 1. 29791050 2018
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease BEFREE Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. 25907713 2015
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease BEFREE Among the 12 boys with a phenotype typical of Dent disease, nine had a mutation in CLCN5 (Dent disease 1), two had a mutation in OCRL1 (Dent disease 2), and one had no mutations in either gene. 18038239 2008
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease BEFREE Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts. 30852663 2020
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria. 24081861 2014
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease CLINVAR Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease. 19546591 2009
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study. 16822791 2006
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease CLINVAR Evidence for genetic heterogeneity in Dent's disease. 15086899 2004
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR A common molecular basis for three inherited kidney stone diseases. 8559248 1996
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing. 19657328 2009
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR Phenotype and genotype of Dent's disease in three Chinese boys. 19076289 2009
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease CLINVAR Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. 9328929 1997
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease CLINVAR Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria. 24081861 2014
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis. 9734595 1998
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR Truncating mutations in the chloride/proton ClC-5 antiporter gene in Seven Jewish Israeli families with Dent's 1 disease. 19546586 2009
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease CLINVAR Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. 15895257 2005
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. 9328929 1997
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR Evidence for genetic heterogeneity in Dent's disease. 15086899 2004
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. 15895257 2005
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease. 9853249 1998
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease CLINVAR Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study. 16822791 2006