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Entry Name Description Category Pathway Gene
H01019 Catecholaminergic polymorphic ventricular tachycardia ... in the cardiac ryanodine receptor gene (RYR2) accounting for an autosomal dominant form (CPVT1) or mutations in the cardiac calsequestrin gene CASQ2 accounting for an autosomal recessive form (CPVT2). Cardiovascular disease (CPVT1) RYR2 [HSA:6262] [KO:K04962]
(CPVT2) CASQ2 [HSA:845] [KO:K23445]
(CPVT3) TECRL [HSA:253017] [KO:K24219]
(CPVT4) CALM1 [HSA:801] [KO:K02183]
(CPVT5) TRDN [HSA:10345] [KO:K23449]
(CPVT6) CALM3 [HSA:808] [KO:K02183]
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