CIC, capicua transcriptional repressor, 23152

N. diseases: 141; N. variants: 10
Disease: Generalized Myotonia of Thomsen ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		0.030 GeneticVariation disease BEFREE Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita. 16629771 2006
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		0.030 Biomarker disease BEFREE Point mutations in the human skeletal chloride channel CIC-1 give rise to myotonia congenita. 12685554 2003
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		0.030 GeneticVariation disease BEFREE Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. 8845168 1995