CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
Disease: Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151340628
rs151340628
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1839874
Disease:
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 		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: rs151340628
rs151340628
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1839874
Disease:
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 		0.800 GeneticVariation UNIPROT 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
dbSNP: rs151340628
rs151340628
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1839874
Disease:
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 		0.800 GeneticVariation UNIPROT Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). 9062355 1997
dbSNP: rs151340628
rs151340628
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C1839874
Disease:
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 		C 0.800 CausalMutation CLINVAR