CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
Disease: Cartilaginous exostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		0.010 GeneticVariation disease BEFREE Here, employing a composite pipeline method derived from various inference-based programs, we have characterized 26 deletion CNVs [including three novel pathogenic CNVs involving an autosomal gene (EXT2) causing hereditary osteochondromas and an X-linked gene (CLCN5) causing Dent disease, as well as 23 CNVs previously identified by inference from a cohort of Canadian autism spectrum disorder families] to the single-base-pair level of accuracy from whole-genome sequencing data. 25792359 2015