RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Disease: Cardiomyopathy, Dilated ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.020 GeneticVariation group BEFREE Recently, RYR2 exon 3 deletion has been identified in patients with dilated cardiomyopathy (DCM) and/or CPVT. 24394973 2014
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.020 GeneticVariation group LHGDN Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. 17875969 2007