CLCN4, chloride voltage-gated channel 4, 1183

N. diseases: 114; N. variants: 14
Disease: Dent's disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878681
Disease: Dent's disease
Dent's disease 		0.020 GeneticVariation disease BEFREE Three novel CLC-5 mutations were identified, and mutations in OCRL1, CLC-4 and cofilin excluded in causing Dent's disease in this patient cohort. 19546591 2009
CUI: C0878681
Disease: Dent's disease
Dent's disease 		0.020 AlteredExpression disease BEFREE Future studies will assess whether the severity of Dent's disease relates not only to the impact of particular mutations on ClC-5 but also on the consequences of those mutations on the functional expression of ClC-4. 12746443 2003