×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
0.980
GeneticVariation
disease
BEFREE
Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts.
30852663
2020
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
0.980
GeneticVariation
disease
BEFREE
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1 .
25907713
2015
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
0.980
Biomarker
disease
GENOMICS_ENGLAND
A patient with nephrotic-range proteinuria and focal global glomerulosclerosis.
23886564
2013
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
0.980
GermlineCausalMutation
disease
ORPHANET
Heterogeneity in the processing of CLCN5 mutants related to Dent disease.
21305656
2011
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
0.980
GeneticVariation
disease
UNIPROT
Heterogeneity in the processing of CLCN5 mutants related to Dent disease.
21305656
2011
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
0.980
GeneticVariation
disease
CLINVAR
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
19546591
2009
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
0.980
CausalMutation
disease
CLINVAR
Phenotype and genotype of Dent's disease in three Chinese boys.
19076289
2009
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
0.980
CausalMutation
disease
CLINVAR
Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?
19806368
2009
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
0.980
CausalMutation
disease
CLINVAR
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
19546591
2009
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
0.980
GermlineCausalMutation
disease
ORPHANET
Growth hormone improves growth rate and preserves renal function in Dent disease.
18540256
2008
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
0.980
CausalMutation
disease
CLINVAR
Renal manifestations of Dent disease and Lowe syndrome.
18038239
2008
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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
×
Entrez Id:
1184
Gene Symbol:
CLCN5
CLCN5
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