CLCN1, chloride voltage-gated channel 1, 1180

N. diseases: 67; N. variants: 95
Disease: Myotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027125
Disease: Myotonia
Myotonia 		0.430 Biomarker phenotype GENOMICS_ENGLAND A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. 22649220 2012
CUI: C0027125
Disease: Myotonia
Myotonia 		0.430 Biomarker phenotype GENOMICS_ENGLAND A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. 22649220 2012
CUI: C0027125
Disease: Myotonia
Myotonia 		0.430 GeneticVariation phenotype LHGDN In total, 20% (8 of 40) of our probands with suspected chloride channel myotonia showed no CLCN1 mutations but subsequent SCN4A screening revealed mutations in all of them. 18337730 2008
CUI: C0027125
Disease: Myotonia
Myotonia 		0.430 Biomarker phenotype LHGDN Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene. 18624224 2008
CUI: C0027125
Disease: Myotonia
Myotonia 		0.430 GeneticVariation phenotype LHGDN More than 60 myotonia-causing mutations in the CLCN1 gene have been identified, with only a few of them being dominant. 11933197 2002
CUI: C0027125
Disease: Myotonia
Myotonia 		0.430 Biomarker phenotype HPO
CUI: C0027125
Disease: Myotonia
Myotonia 		0.430 GeneticVariation phenotype CLINVAR
CUI: C0027125
Disease: Myotonia
Myotonia 		0.430 CausalMutation phenotype CLINVAR