Disease: Congenital myopathy (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.320 GeneticVariation group BEFREE CACNA1S mutations cause hypokalemic periodic paralysis, malignant hyperthermia and congenital myopathy. 29193480 2018
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.320 Biomarker group BEFREE Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. 28012042 2017
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.320 Biomarker group GENOMICS_ENGLAND Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. 28012042 2017