Catecholaminergic polymorphic ventricular tachycardia

Disease Term Disease ID Gene Symbol Classification References Source
CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA
3286MONDO:0017990
CALM1 Causal
10197534 12707260 20301466 23040497 23388215 24563457 25557436 26309258 32929985
CTD ClinGen Orphanet
CASQ2 Causal
11401939 12386154 16908766 17449018 17607358 18583715 20301466 21618644 24309898 28336343 9287354
ClinGen GWAS catalog Orphanet
RYR2 Causal
20301466 29453246 11208676 12093772 17875969 19216760 23479668 24394973 26018045 17081562 30696458 31112425
ClinGen Disgenet Orphanet
TRDN Causal
11069905 19383796 20301466 22422768 26200674 26768964 30479949 31607542 8550602
CTD ClinGen Orphanet
ANK2 Unknown — ClinGen GenCC
CALM2 Unknown
24917665
ClinGen GenCC Orphanet
CALM3 Unknown
31983240 27516456 31170290
CTD ClinGen Orphanet
KCNJ2 Unknown — ClinGen GenCC
PKP2 Unknown — ClinGen
TECRL Unknown
27861123 30790670 32173957 33367594
ClinGen GWAS catalog Orphanet
CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA 1
MONDO:0011484
CASQ2 Causal — ClinVar
RYR2 Causal — ClinVar GenCC
TRDN Causal — ClinVar
CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA 2
MONDO:0012762
CASQ2 Causal
12386154 16908766 21618644 15176429 32693635 27157848
ClinVar GWAS catalog
CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA 3
MONDO:0013529
TECRL Causal
27861123 30790670 33367594 32173957
ClinVar Orphanet
CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA 4
MONDO:0013966
CALM1 Causal — ClinVar GenCC
CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA 5
MONDO:0014191
TRDN Causal
22422768 26200674 26768964 30479949 25922419
ClinVar Disgenet
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
C1631597604772OMIM:604772
ANK2 Unknown — Disgenet
CALM1 Unknown — Disgenet
CASQ2 Unknown — CTD Disgenet HPO
DMPK Unknown — Disgenet
DSG2 Unknown — Disgenet
DSP Unknown — Disgenet
KCNH2 Unknown — Disgenet
LAMA4 Unknown — Disgenet
LMNA Unknown — Disgenet
MYBPC3 Unknown — Disgenet
RYR2 Unknown — CTD Disgenet HPO
SCN4B Unknown — Disgenet
SCN5A Unknown — Disgenet
TRDN Unknown — CTD Disgenet HPO
TRPM4 Unknown — Disgenet
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2
611938
CASQ2 Unknown — HPO
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3
614021C3151463
TECRL Unknown — Disgenet HPO
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
614916C3554047
CALM1 Unknown — Disgenet HPO
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 6
C5394069
CALM3 Unknown — Disgenet