Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
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
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
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