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 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 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 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 Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. 25907713 2015
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 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 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 Biomarker disease GENOMICS_ENGLAND A patient with nephrotic-range proteinuria and focal global glomerulosclerosis. 23886564 2013
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GermlineCausalMutation disease ORPHANET Heterogeneity in the processing of CLCN5 mutants related to Dent disease. 21305656 2011
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease UNIPROT Heterogeneity in the processing of CLCN5 mutants related to Dent disease. 21305656 2011
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 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 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 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 UNIPROT Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure. 19019917 2009
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg? 19806368 2009
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease UNIPROT 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 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 GermlineCausalMutation disease ORPHANET Growth hormone improves growth rate and preserves renal function in Dent disease. 18540256 2008
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR Renal manifestations of Dent disease and Lowe syndrome. 18038239 2008
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 UNIPROT Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease. 18025833 2007
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 CausalMutation disease CLINVAR Molecular analysis of the CLCN5 gene in Dent's disease: first mutation identified in a patient from South America. 18184518 2007