CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887650
Disease: Adult Rickets
Adult Rickets 		0.100 Biomarker disease HPO
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		0.010 GeneticVariation disease BEFREE Thirteen patients who were negative for mutation detection in the Sanger group were analyzed by NGS; three were diagnosed with AS.Two had mutations in CLCN5 or LAMB2. 31364286 2019
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		0.100 Biomarker disease HPO
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.010 GeneticVariation disease BEFREE Pathologic barttin mutants differentially regulated trafficking and processing of ClC-5, suggesting that the interaction between the two proteins might be relevant also for the pathophysiology of BS. 30405442 2018
CUI: C0151825
Disease: Bone pain
Bone pain 		0.100 Biomarker phenotype HPO
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C1833329
Disease: Bulging epiphyses
Bulging epiphyses 		0.100 Biomarker phenotype HPO
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		0.010 GeneticVariation disease BEFREE Here, employing a composite pipeline method derived from various inference-based programs, we have characterized 26 deletion CNVs [including three novel pathogenic CNVs involving an autosomal gene (EXT2) causing hereditary osteochondromas and an X-linked gene (CLCN5) causing Dent disease, as well as 23 CNVs previously identified by inference from a cohort of Canadian autism spectrum disorder families] to the single-base-pair level of accuracy from whole-genome sequencing data. 25792359 2015
CUI: C1720983
Disease: Channelopathies
Channelopathies 		0.010 Biomarker disease BEFREE A new approach to mRNA in proximal tubule cells of patients with CLCN5 channelopathy. 11261675 2001
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.010 GeneticVariation disease BEFREE We looked for CLCN5 mutations in 25 males with ESRD-CSR stones selected from all of the patients (1,901 individuals, of which 1,179 were males) of 15 dialysis units in the Veneto region. 16247550 2006
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.120 Biomarker group BEFREE ClC-5 upregulation ameliorates renal fibrosis via inhibiting NF-κB/MMP-9 pathway signaling activation, suggesting that ClC-5 may be a novel therapeutic target for treating renal fibrosis and chronic kidney disease. 31054069 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.120 Biomarker group HPO
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.120 GeneticVariation group 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: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 GeneticVariation disease BEFREE IL-4 Up-Regulates MiR-21 and the MiRNAs Hosted in the CLCN5 Gene in Chronic Lymphocytic Leukemia. 25909590 2015
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.010 Biomarker disease BEFREE Specifically, downregulation of the nicotinic cholinergic receptor subunit β-2 gene (CHRNB2), monoaminergic enzymes catechol-O-methyltransferase (COMT) and dopa decarboxylase (DDC), chloride channels CLCN4 and CLCN5, scaffolding protein caveolin 1 (CAV1), cortical development/cytoskeleton element lissencephaly 1 (LIS1), and intracellular signaling cascade member adenylate cyclase 3 (ADCY3) was observed in pS422-immunreactive nbM neurons in CTE patients. 29338612 2018
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		0.010 GeneticVariation disease BEFREE Urinalysis and blood chemistry showed no findings suggestive of Fanconi syndrome with renal tubular acidosis.Mutations in CLCN5 were ruled out. 17384968 2007
CUI: C1865200
Disease: Delayed epiphyseal ossification
Delayed epiphyseal ossification 		0.100 Biomarker phenotype HPO
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