CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
Disease: Renal tubular disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		0.020 GeneticVariation disease BEFREE Thus, the results of our study expand the spectrum of clinical phenotypes associated with CLCN5 mutations to include this proximal renal tubular disorder of Japanese children. 9062355 1997
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		0.020 GeneticVariation disease BEFREE The elucidation of the coding sequence and exon-intron organization of CLCN5 will both expedite the evaluation of structure/function relationships of these ion channels and facilitate the screening of other patients with renal tubular dysfunction for mutations at this locus. 8575751 1995