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: 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 Biomarker disease GENOMICS_ENGLAND A patient with nephrotic-range proteinuria and focal global glomerulosclerosis. 23886564 2013
CUI: C0878681
Disease: Dent's disease
Dent's disease 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0878681
Disease: Dent's disease
Dent's disease 		0.900 Biomarker disease GENOMICS_ENGLAND Immunoregulatory circuits among T-cell sets. Identification of a subpopulation of T-helper cells that induces feedback inhibition. 308990 1978
CUI: C1839874
Disease: Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 		0.700 Biomarker disease GENOMICS_ENGLAND A patient with nephrotic-range proteinuria and focal global glomerulosclerosis. 23886564 2013
CUI: C1845168
Disease: Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic Rickets, X-Linked Recessive 		0.700 Biomarker disease GENOMICS_ENGLAND A patient with nephrotic-range proteinuria and focal global glomerulosclerosis. 23886564 2013
CUI: C1845168
Disease: Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic Rickets, X-Linked Recessive 		0.700 Biomarker disease GENOMICS_ENGLAND A second family with XLRH displays the mutation S244L in the CLCN5 gene. 9187673 1997
CUI: C0403720
Disease: X-linked recessive nephrolithiasis with renal failure
X-linked recessive nephrolithiasis with renal failure 		0.620 Biomarker disease GENOMICS_ENGLAND A patient with nephrotic-range proteinuria and focal global glomerulosclerosis. 23886564 2013
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.310 Biomarker group GENOMICS_ENGLAND
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		0.300 Biomarker phenotype GENOMICS_ENGLAND
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 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 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 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 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
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease UNIPROT Family history may be misleading in the diagnosis of Dent's disease. 16416111 2006
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease UNIPROT 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 Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy. 16247550 2006
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		0.980 GeneticVariation disease 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
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		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
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