Catecholaminergic polymorphic ventricular tachycardia

Disease Term Disease ID Gene Symbol Classification References Source
Catecholaminergic polymorphic ventricular tachycardia 3286 CALM1 Causal Pathogenic evidence from ClinVar - ClinVar
CASQ2 Causal Pathogenic evidence from ClinVar - ClinVar
RYR2 Causal Pathogenic evidence from ClinVar - ClinVar
TECRL Causal Pathogenic evidence from ClinVar - ClinVar
TRDN Causal Pathogenic evidence from ClinVar - ClinVar
CALM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CALM3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) C1631597 CALM1 Causal Pathogenic evidence from ClinVar 19121813, 23040497 ClinVar
CASQ2 Causal Pathogenic evidence from ClinVar 12386154, 19398665, 20513597, 21618644 ClinVar
RYR2 Causal Pathogenic evidence from ClinVar 11157710, 11159936, 11208676, 12093772, 12106942, 14571276, 15046072, 15046073, 15131021, 15364606, 15364613, 15466642, 15544015, 15721128, 15749201, 16084945, 16188589, 16239587, 16301704, 16391617, 16517285, 16873551, 17062961, 17875969, 17984046, 18752142, 19398665, 19541610, 19913485, 19926015, 20080988, 20106799, 20157052, 20513597, 20676041, 20851825, 20961976, 21126784, 21292648, 21454795, 21616285, 22221940, 22373669, 22374134, 22787013, 22828895, 23595086, 23871484, 24025405, 24136861, 24793461, 25087098, 25193700, 25372681, 25440180, 26114861, 26153920, 27114410, 27482086, 27733687, 28237968, 28404607, 28422759, 28449774, 28600387 ClinVar
TECRL Causal Pathogenic evidence from ClinVar 27861123 ClinVar
TRDN Causal Pathogenic evidence from ClinVar 22422768, 25922419, 26200674 ClinVar
ANK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CALM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24917665 -
CALM3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16818210 -
KCNJ2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27761157 -
TRDN-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22422768, 26200674 -
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 C4053736 RYR2 Causal Pathogenic evidence from ClinVar 2380170, 10830164, 11157710, 11208676, 12169647, 12837242, 14571276, 15721128, 16188589, 18483626, 18752142, 19926015, 20106799, 21454795, 21768539, 24025405, 24136861, 27231019, 27988446, 28237968 ClinVar