CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
Disease: Dent disease 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT Heterogeneity in the processing of CLCN5 mutants related to Dent disease. 21305656 2011
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing. 19657328 2009
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure. 19019917 2009
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease. 18025833 2007
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease. 17262170 2007
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study. 16822791 2006
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy. 16247550 2006
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT Family history may be misleading in the diagnosis of Dent's disease. 16416111 2006
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT Evidence for genetic heterogeneity in Dent's disease. 15086899 2004
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT X-linked recessive nephrolithiasis: presentation and diagnosis in children. 9602200 1998
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease. 9853249 1998
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT A second family with XLRH displays the mutation S244L in the CLCN5 gene. 9187673 1997
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. 9259268 1997
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		0.800 GeneticVariation UNIPROT A common molecular basis for three inherited kidney stone diseases. 8559248 1996
dbSNP: rs151340622
rs151340622
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1848336
Disease:
Dent disease 1 		G 0.800 CausalMutation CLINVAR