CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
Disease: Dent disease type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4305530
Disease: Dent disease type 1
Dent disease type 1 		0.020 GeneticVariation disease BEFREE No CLCN5 mutations were detected.TP/Cr was lower in DC and CKiD with tubulointerstitial disease than in DD1 and CKiD with glomerular disease (p < 0.002). 30852663 2020
CUI: C4305530
Disease: Dent disease type 1
Dent disease type 1 		0.020 GeneticVariation disease BEFREE Dent disease type 1 (DD1) is caused by mutations in the CLCN5 gene encoding ClC-5, a Cl<sup>-</sup> /H<sup>+</sup> antiporter localized to early endosomes of the proximal tubule (PT). 31472005 2019