Disease: Myotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027125
Disease: Myotonia
Myotonia 		0.620 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 		0.620 GeneticVariation phenotype LHGDN A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene. 17212350 2007
CUI: C0027125
Disease: Myotonia
Myotonia 		0.620 Biomarker phenotype GENOMICS_ENGLAND Correlating phenotype and genotype in the periodic paralyses. 15534250 2004
CUI: C0027125
Disease: Myotonia
Myotonia 		0.620 Biomarker phenotype GENOMICS_ENGLAND Correlating phenotype and genotype in the periodic paralyses. 15534250 2004
CUI: C0027125
Disease: Myotonia
Myotonia 		0.620 Biomarker phenotype CTD_human Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. 8308722 1993
CUI: C0027125
Disease: Myotonia
Myotonia 		0.620 CausalMutation phenotype CLINVAR
CUI: C0027125
Disease: Myotonia
Myotonia 		0.620 Biomarker phenotype HPO