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 Biomarker disease CTD_human
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 Biomarker disease GENOMICS_ENGLAND
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 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 GeneticVariation 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 Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). 9062355 1997
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 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 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 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 X-linked recessive nephrolithiasis: presentation and diagnosis in children. 9602200 1998
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 GeneticVariation 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 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 UNIPROT 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 CausalMutation disease CLINVAR Renal chloride channel, CLCN5, mutations in Dent's disease. 10469281 1999
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 Biomarker disease MGD ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease. 11099045 2000
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 Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease). 11136179 2001
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 CausalMutation disease CLINVAR Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease. 12637640 2003
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 Biomarker disease MGD Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. 12815097 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 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