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 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 UNIPROT A second family with XLRH displays the mutation S244L in the CLCN5 gene. 9187673 1997
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 UNIPROT A common molecular basis for three inherited kidney stone diseases. 8559248 1996
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 Biomarker disease MGD The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease. 12548389 2003
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 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 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 Biomarker disease MGD Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. 11115837 2000
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 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 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 GeneticVariation disease UNIPROT Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. 9259268 1997
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease UNIPROT Evidence for genetic heterogeneity in Dent's disease. 15086899 2004
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 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 GeneticVariation disease UNIPROT X-linked recessive nephrolithiasis: presentation and diagnosis in children. 9602200 1998