Disease Term Disease ID Gene Symbol References
Arrhythmogenic Right Ventricular Dysplasia C0349788 ACTN2
DES
DSC2 31333075, 19863551, 26743238, 21062920, 23911551, 17186466, 31568572
DSG2 20031616, 23810894, 23381804, 19095136, 19863551, 25820315, 21859740, 20031617, 16773573, 20400443, 21606390, 16505173, 20857253, 17105751, 19151369, 19279339, 23671136, 21606396, 28283360, 21636032, 25525159, 20152563, 23071725, 18382419
DSP 22555271, 19279339, 20716751, 23810894, 21606390, 26850880, 24070718, 10594734, 21859740, 24503780, 19095136, 20864495, 19358943, 25525159, 16917092, 21723241, 19558499
JUP
LMNA
PKP2 19863551, 23973953, 20400443, 19955750, 18662195, 21636032, 19279339, 21822014, 28253841, 23671136, 24967631, 25087486, 27532257, 19880068, 27335691, 28341588, 24704780, 24125834, 21606390, 20031616, 27761167, 23871885, 23514727, 23871674, 19084810, 24585727, 15489853, 23500315, 20857253, 16415378, 25820315, 17010805, 16549640, 20152563, 16774985, 30562116, 16567567, 20864495, 21301620, 20031617, 19427443, 22177269, 23178689, 19358943, 20525856, 25447171, 19302745, 22019812, 25525159, 23347029, 21606396, 25857910, 16893920, 28588093, 22214898, 26676851, 23810883, 27727376, 23812740, 20129281, 2412583, 18554203, 24200905, 26264440, 23810894, 28431057, 29178656, 22458570
RYR2 21126784
SCN5A 28069705, 24317018
CTNNA3
TMEM43 22458570, 24598986, 22725725, 21214875, 23812740, 18313022
DSG2-AS1 18382419, 20031617, 16773573
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 C1864850 DSC2 28256248, 27532257, 17033975, 29567486, 23911551, 23863954, 28600387, 18957847, 21062920, 19863551
DSCAS
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 C1857777 DSG2 23911551, 27532257, 16773573, 21062920, 23381804, 20400443, 19863551, 16505173, 20031617, 29567486, 20864495, 21397041
DSG2-AS1 23381804, 21397041, 20864495
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 C1836906 DSP
LMNA
PKP2 20031616, 16567567, 28588093, 20152563, 24585727, 20864495, 8922383, 23347029, 20031617, 24200905, 23871674, 23812740, 19533476, 24832006, 19863551, 17010805, 15489853, 20857253, 27532257, 16549640, 20525856, 27335691, 21636032, 22781308, 22214898, 25765472, 19955750, 19358943, 20829228, 23889974, 16415378, 24070718, 24967631, 23500315, 22019812, 21822014, 15479741, 19302745, 21606390, 16301704, 23671136, 23911551, 27761167, 19084810, 19279339, 23810883, 26743238, 18554203, 23863954, 19880068, 26701096, 24704780, 24784157, 25857910, 23307527, 26676851, 21301620, 25447171, 20400443, 21606396, 23514727, 25087486, 11790773, 16893920
PLN
CEP85L
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 C1843896 DSP 20864495, 23810894, 19279339, 27831900, 28527814, 20940358, 23671136, 25820315, 27532257, 21859740, 25516398, 23500315, 25616645, 15941723, 11063735, 19095136, 10594734, 26187847, 12373648, 25227139, 28442525, 20031617, 16917092, 24070718, 26735901, 20716751, 16061754, 30993396, 24503780
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 C1969081 JUP 27532257, 20031617, 23500315, 17924338
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder) C1862511 TGFB3 25835445
IFT43
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) C1858379 TMEM43 27532257, 25343256, 18313022, 21214875, 26840987, 23812740
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 C1832931 LMNA 23736219, 22199124
RYR2 16301704, 27114410, 16391617, 17875969, 28404607, 11159936
TTN 21810661
LDB3 25041374
CTNNA3 23136403
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 C3810138 CTNNA3 23136403
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form 293910 TTN
PKP2
RYR2
TGFB3
DSC2
DSG2
DSP
JUP
LDB3
LMNA
TMEM43
CTNNA3
CDH2
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form 293899 TTN
TMEM43
CTNNA3
DSG2
PKP2
RYR2
TGFB3
DSC2
DSP
JUP
LDB3
LMNA
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form 293888 PKP2
DSC2
TTN
TMEM43
RYR2
TGFB3
DSG2
DSP
JUP
LDB3
LMNA
CTNNA3