Arrhythmogenic right ventricular cardiomyopathy

Disease Term Disease ID Gene Symbol Classification References Source
Arrhythmogenic Right Ventricular Dysplasia C0349788 CTNNA3 Causal Pathogenic evidence from ClinVar - ClinVar
DES Causal Pathogenic evidence from ClinVar - ClinVar
DSC2 Causal Pathogenic evidence from ClinVar 17186466, 19863551, 21062920, 23911551, 26743238, 31333075, 31568572 ClinVar
DSG2 Causal Pathogenic evidence from ClinVar 16505173, 16773573, 17105751, 18382419, 19095136, 19151369, 19279339, 19863551, 20031616, 20031617, 20152563, 20400443, 20857253, 21606390, 21606396, 21636032, 21859740, 23071725, 23381804, 23671136, 23810894, 25525159, 25820315, 28283360 ClinVar
DSP Causal Pathogenic evidence from ClinVar 10594734, 16917092, 19095136, 19279339, 19358943, 19558499, 20716751, 20864495, 21606390, 21723241, 21859740, 22555271, 23810894, 24070718, 24503780, 25525159, 26850880 ClinVar
JUP Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar - ClinVar
PKP2 Causal Pathogenic evidence from ClinVar 2412583, 15489853, 16415378, 16549640, 16567567, 16774985, 16893920, 17010805, 18554203, 18662195, 19084810, 19279339, 19302745, 19358943, 19427443, 19863551, 19880068, 19955750, 20031616, 20031617, 20129281, 20152563, 20400443, 20525856, 20857253, 20864495, 21301620, 21606390, 21606396, 21636032, 21822014, 22019812, 22177269, 22214898, 22458570, 23178689, 23347029, 23500315, 23514727, 23671136, 23810883, 23810894, 23812740, 23871674, 23871885, 23973953, 24125834, 24200905, 24585727, 24704780, 24967631, 25087486, 25447171, 25525159, 25820315, 25857910, 26264440, 26676851, 27335691, 27532257, 27727376, 27761167, 28253841, 28341588, 28431057, 28588093, 29178656, 30562116 ClinVar
RYR2 Causal Pathogenic evidence from ClinVar 21126784 ClinVar
SCN5A Causal Pathogenic evidence from ClinVar 24317018, 28069705 ClinVar
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 C3810138 CTNNA3 Causal Pathogenic evidence from ClinVar 23136403 ClinVar
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 C1832931 CTNNA3 Causal Pathogenic evidence from ClinVar 23136403 ClinVar
LMNA Causal Pathogenic evidence from ClinVar 22199124, 23736219 ClinVar
RYR2 Causal Pathogenic evidence from ClinVar 11159936, 16301704, 16391617, 17875969, 27114410, 28404607 ClinVar
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form 293899 CTNNA3 Causal Pathogenic evidence from ClinVar - ClinVar
DSC2 Causal Pathogenic evidence from ClinVar - ClinVar
DSG2 Causal Pathogenic evidence from ClinVar - ClinVar
DSP Causal Pathogenic evidence from ClinVar - ClinVar
JUP Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar - ClinVar
PKP2 Causal Pathogenic evidence from ClinVar - ClinVar
RYR2 Causal Pathogenic evidence from ClinVar - ClinVar
TGFB3 Causal Pathogenic evidence from ClinVar - ClinVar
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form 293888 CTNNA3 Causal Pathogenic evidence from ClinVar - ClinVar
DSC2 Causal Pathogenic evidence from ClinVar - ClinVar
DSG2 Causal Pathogenic evidence from ClinVar - ClinVar
DSP Causal Pathogenic evidence from ClinVar - ClinVar
JUP Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar - ClinVar
PKP2 Causal Pathogenic evidence from ClinVar - ClinVar
RYR2 Causal Pathogenic evidence from ClinVar - ClinVar
TGFB3 Causal Pathogenic evidence from ClinVar - ClinVar
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form 293910 CTNNA3 Causal Pathogenic evidence from ClinVar - ClinVar
DSC2 Causal Pathogenic evidence from ClinVar - ClinVar
DSG2 Causal Pathogenic evidence from ClinVar - ClinVar
DSP Causal Pathogenic evidence from ClinVar - ClinVar
JUP Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar - ClinVar
PKP2 Causal Pathogenic evidence from ClinVar - ClinVar
RYR2 Causal Pathogenic evidence from ClinVar - ClinVar
TGFB3 Causal Pathogenic evidence from ClinVar - ClinVar
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 C1864850 DSC2 Causal Pathogenic evidence from ClinVar 17033975, 18957847, 19863551, 21062920, 23863954, 23911551, 27532257, 28256248, 28600387, 29567486 ClinVar
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 C1857777 DSG2 Causal Pathogenic evidence from ClinVar 16505173, 16773573, 19863551, 20031617, 20400443, 20864495, 21062920, 21397041, 23381804, 23911551, 27532257, 29567486 ClinVar
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 C1843896 DSP Causal Pathogenic evidence from ClinVar 10594734, 11063735, 12373648, 15941723, 16061754, 16917092, 19095136, 19279339, 20031617, 20716751, 20864495, 20940358, 21859740, 23500315, 23671136, 23810894, 24070718, 24503780, 25227139, 25516398, 25616645, 25820315, 26187847, 26735901, 27532257, 27831900, 28442525, 28527814, 30993396 ClinVar
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 C1836906 DSP Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar - ClinVar
PKP2 Causal Pathogenic evidence from ClinVar 8922383, 11790773, 15479741, 15489853, 16301704, 16415378, 16549640, 16567567, 16893920, 17010805, 18554203, 19084810, 19279339, 19302745, 19358943, 19533476, 19863551, 19880068, 19955750, 20031616, 20031617, 20152563, 20400443, 20525856, 20829228, 20857253, 20864495, 21301620, 21606390, 21606396, 21636032, 21822014, 22019812, 22214898, 22781308, 23307527, 23347029, 23500315, 23514727, 23671136, 23810883, 23812740, 23863954, 23871674, 23889974, 23911551, 24070718, 24200905, 24585727, 24704780, 24784157, 24832006, 24967631, 25087486, 25447171, 25765472, 25857910, 26676851, 26701096, 26743238, 27335691, 27532257, 27761167, 28588093 ClinVar
PLN Causal Pathogenic evidence from ClinVar - ClinVar
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 C1969081 JUP Causal Pathogenic evidence from ClinVar 17924338, 20031617, 23500315, 27532257 ClinVar
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder) C1862511 TGFB3 Causal Pathogenic evidence from ClinVar 25835445 ClinVar