RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0264716
Disease: Chronic heart failure
Chronic heart failure
0.020 GeneticVariation disease BEFREE Common RyR2 variants associate with ventricular arrhythmias and sudden cardiac death in chronic heart failure. 20408814 2010
CUI: C0264716
Disease: Chronic heart failure
Chronic heart failure
0.020 AlteredExpression disease BEFREE In heart failure, chronic stimulation of the beta-adrenergic signaling pathway leads to hyperphosphorylation of RyR2 by protein kinase A, which dissociates calstabin2 (FKBP12.6) from the receptor. 14659699 2003