Cardiomyopathy

Disease Term Disease ID Gene Symbol Classification References Source
Cardiomyopathies C0878544 GLA Causal Pathogenic evidence from ClinVar - ClinVar
LAMP2 Causal Pathogenic evidence from ClinVar - ClinVar
LDB3 Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar 12015247, 12647844, 20041886, 23183350 ClinVar
MYBPC3 Causal Pathogenic evidence from ClinVar 19151713 ClinVar
MYH6 Causal Pathogenic evidence from ClinVar - ClinVar
MYH7 Causal Pathogenic evidence from ClinVar 15322983 ClinVar
MYL2 Causal Pathogenic evidence from ClinVar - ClinVar
MYL3 Causal Pathogenic evidence from ClinVar - ClinVar
NEBL Causal Pathogenic evidence from ClinVar - ClinVar
Cardiomyopathy, Hypertrophic, Familial C0949658 GLA Causal Pathogenic evidence from ClinVar - ClinVar
LAMP2 Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar 16407522, 16585054, 24503780 ClinVar
MYBPC3 Causal Pathogenic evidence from ClinVar 2732257, 7493025, 7493026, 9048664, 9241277, 9562578, 9631872, 9742053, 10424815, 10610770, 10736283, 11499718, 11499719, 11815426, 12110947, 12202917, 12628722, 12707239, 12788380, 12818575, 12951062, 12974739, 14563344, 15114369, 15166115, 15519027, 15563892, 15769446, 16199542, 16335287, 16679492, 16715312, 16858239, 17521870, 17937428, 18258667, 18273486, 18337725, 18403758, 18409188, 18467358, 18533079, 18761664, 18926831, 18929575, 18957093, 19150014, 19151713, 19273718, 19574547, 19590044, 19659763, 19808356, 19996403, 20019025, 20031602, 20031618, 20031619, 20128375, 20298698, 20378854, 20433692, 20439259, 20474083, 20505798, 20542340, 20624503, 20641121, 20800588, 21088121, 21302287, 21310275, 21415409, 21520333, 21551322, 21750094, 21817903, 21835286, 21839045, 21959974, 21985754, 22057632, 22112859, 22115648, 22267749, 22386539, 22462493, 22555271, 22569109, 22574137, 22765922, 22857948, 23074333, 23140321, 23233322, 23283745, 23396983, 23508784, 23549607, 23674513, 23690394, 23711808, 23782526, 23 ClinVar
MYH6 Causal Pathogenic evidence from ClinVar 11815426 ClinVar
MYH7 Causal Pathogenic evidence from ClinVar 1430197, 1552912, 1638703, 1944483, 1975517, 2411171, 7648684, 7662452, 7731997, 7796500, 7848441, 7883988, 8250038, 8254035, 8281650, 8282798, 8335820, 8435239, 8483915, 8514894, 8533830, 8614836, 8655135, 8981935, 9062359, 9140824, 9172070, 9271024, 9544842, 9826622, 9829907, 9874056, 10024460, 10065021, 10521296, 10563488, 10606622, 10662815, 10725281, 10750581, 10862102, 10882745, 11106718, 11113006, 11133230, 11227787, 11377367, 11433818, 11861413, 12081993, 12084606, 12117842, 12473556, 12566107, 12707239, 12818575, 12820698, 12881443, 12951062, 12953063, 12974739, 12975413, 15001446, 15010274, 15322983, 15358028, 15483641, 15519027, 15528230, 15556047, 15563892, 15856146, 15858117, 16199542, 16267253, 16352453, 16650083, 16858239, 16983074, 17097032, 17125710, 17192269, 17351073, 17703256, 17987111, 18020371, 18029407, 18076673, 18258667, 18383048, 18403758, 18409188, 18506004, 18533079, 18565996, 18660445, 18761664, 18953637, 19134269, 19150014, 19412328, 19477645, 19651039, 19666645, 19854198, 198800 ClinVar
MYL2 Causal Pathogenic evidence from ClinVar 9241277 ClinVar
MYL3 Causal Pathogenic evidence from ClinVar 12021217, 21823217, 22131351, 26443374, 27532257 ClinVar
Cardiomyopathy, Dilated C0007193 LAMP2 Causal Pathogenic evidence from ClinVar - ClinVar
LDB3 Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar 8621584, 10080180, 10580070, 10662742, 10814726, 10908904, 10939567, 11138304, 11503164, 11561226, 11792809, 11792810, 11897440, 12032588, 12714972, 12920062, 14675861, 14684700, 15372542, 15972724, 15996213, 16156025, 16266469, 16386954, 16407522, 16537768, 16630578, 16715312, 16965317, 16990647, 17334235, 17377071, 17386158, 17987279, 18031519, 18035086, 18337098, 18564364, 18585512, 18606848, 18646565, 18714801, 18795223, 18816602, 18926329, 19167105, 19318026, 19328042, 19638735, 19875404, 19882644, 20019332, 20155465, 20160190, 20497714, 20576434, 20848652, 21151901, 21315846, 21483645, 21632249, 21689390, 21840938, 22019351, 22177269, 22224630, 22266370, 22464770, 23062543, 23142632, 23183350, 23349452, 23360689, 23427149, 23853504, 23977161, 24001739, 24058181, 24375749, 24503780, 24846508, 24915601, 25525159, 26383716, 27532257, 27585670, 27723096, 27884249, 27886618, 28679633, 28790152, 28798025, 29149195, 29237675, 29382405, 29943882 ClinVar
MYBPC3 Causal Pathogenic evidence from ClinVar 9562578, 15519027, 17081393, 20031602, 21750094, 22122802, 23549607, 24793961, 25351510, 27532257 ClinVar
MYH6 Causal Pathogenic evidence from ClinVar 15998695 ClinVar
MYH7 Causal Pathogenic evidence from ClinVar 2753225, 11106718, 11986409, 15556047, 15769782, 16983074, 17351073, 18660445, 19412328, 19477645, 19854198, 20031619, 20573160, 21211974, 21750094, 21943931, 22155079, 22337857, 22464770, 22918376, 22949430, 23054336, 23153285, 23313350, 23349452, 24047955, 24119082, 24503780, 24664454, 24691700, 25448463, 25576864, 25961035, 26025024, 26383716, 27532257, 29212898 ClinVar
MYL2 Causal Pathogenic evidence from ClinVar - ClinVar
MYZAP Causal Pathogenic evidence from ClinVar - ClinVar
CARDIOMYOPATHY, DILATED, 1C (disorder) C1832244 LDB3 Causal Pathogenic evidence from ClinVar 14660611, 14662268 ClinVar
Familial dilated cardiomyopathy C0340427 LDB3 Causal Pathogenic evidence from ClinVar 14660611, 14662268 ClinVar
LMNA Causal Pathogenic evidence from ClinVar 30402260, 30765282 ClinVar
MYBPC3 Causal Pathogenic evidence from ClinVar 20215591 ClinVar
MYH6 Causal Pathogenic evidence from ClinVar 15998695, 20215591 ClinVar
MYH7 Causal Pathogenic evidence from ClinVar 11106718 ClinVar
CARDIOMYOPATHY, DILATED, 1S C1834481 LMNA Causal Pathogenic evidence from ClinVar - ClinVar
MYH7 Causal Pathogenic evidence from ClinVar 10750581, 11106718, 12379228, 15769782, 18506004, 20186049, 20573160, 21127202, 21846512, 23283745, 23290139, 23299917, 25132132, 27532257 ClinVar
MYL2 Causal Pathogenic evidence from ClinVar - ClinVar
Cardiomyopathy, Familial Idiopathic C1449563 LMNA Causal Pathogenic evidence from ClinVar 10580070, 11561226, 11792809, 11799477, 11897440, 12486434, 12628721, 12920062, 14675861, 14684700, 15140538, 15148145, 15219508, 15372542, 15996213, 16061563, 18031519, 18035086, 18564364, 18585512, 18606848, 18646565, 19167105, 20019332, 20160190, 20186049, 21085127, 21689390, 21846512, 22177269, 23183350, 24375749, 24503780, 24623722, 27532257, 27760138 ClinVar
MYBPC3 Causal Pathogenic evidence from ClinVar - ClinVar
MYH6 Causal Pathogenic evidence from ClinVar 15998695 ClinVar
MYH7 Causal Pathogenic evidence from ClinVar 11986409 ClinVar
Cardiomyopathies, Primary C0033141 MYBPC3 Causal Pathogenic evidence from ClinVar 19151713 ClinVar
CARDIOMYOPATHY, DILATED, 1MM C3809346 MYBPC3 Causal Pathogenic evidence from ClinVar 20186049, 27532257 ClinVar
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) C3495498 MYBPC3 Causal Pathogenic evidence from ClinVar 2073894, 9048664, 9541104, 9562578, 9631872, 10610770, 10736283, 11499718, 11499719, 12117842, 12707239, 14563344, 15519027, 16199542, 16831826, 16858239, 18403758, 18533079, 18761664, 18809796, 19150014, 19273718, 19356534, 19574547, 19659763, 20019025, 20031618, 20359594, 20378854, 20433692, 20505798, 20624503, 20818890, 21239446, 21302287, 21839045, 22267749, 22563033, 22765922, 23299917, 23690394, 24093860, 24704860, 24810389, 25058872, 25335496, 25342278, 25524337, 25611685, 25740977, 27532257 ClinVar
MYH6 Causal Pathogenic evidence from ClinVar 16858239, 20031618, 20173211, 20359594, 21302287, 21835320, 23674513 ClinVar
MYH7 Causal Pathogenic evidence from ClinVar 1186938, 1417858, 1423936, 1430197, 1552912, 1634614, 1638703, 1739523, 1944483, 1975517, 1975599, 2249844, 7581410, 7662452, 7731997, 7788887, 7789380, 7796500, 7848420, 7848441, 7874131, 7883988, 7994801, 8250038, 8254035, 8268932, 8281650, 8282798, 8335820, 8343162, 8435239, 8483915, 8514894, 8533830, 8614836, 8655135, 8788376, 8898372, 8899546, 9001794, 9105042, 9140839, 9154300, 9172070, 9541509, 9544842, 9822100, 9826622, 9829907, 9874056, 10024460, 10065021, 10086390, 10329202, 10521296, 10563488, 10606622, 10662815, 10679957, 10725281, 10750581, 10764406, 10862102, 10874840, 10882745, 10957787, 11113006, 11133230, 11186938, 11196015, 11214007, 11227787, 11377367, 11424919, 11498078, 11733062, 11861413, 11904418, 11968089, 12081993, 12084606, 12117842, 12473556, 12566107, 12590187, 12601548, 12707239, 12749056, 12818575, 12820698, 12881443, 12951062, 12953063, 12974739, 12975413, 13732753, 15000344, 15008060, 15358028, 15483641, 15519027, 15528230, 15550524, 15563892, 15856146, 15858117, 16199542, 1626 ClinVar
MYL3 Causal Pathogenic evidence from ClinVar 8673105, 22131351 ClinVar
Cardiomyopathy, Dilated, 1EE C2750466 MYH6 Causal Pathogenic evidence from ClinVar 15998695, 27532257, 28082330 ClinVar
Cardiomyopathy, Familial Hypertrophic, 14 C2750467 MYH6 Causal Pathogenic evidence from ClinVar 11815426, 15998695, 27532257, 28082330 ClinVar
Left ventricular noncompaction cardiomyopathy C4021133 MYH7 Causal Pathogenic evidence from ClinVar 19477645, 24664454 ClinVar
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 C1834460 MYL2 Causal Pathogenic evidence from ClinVar 7236212, 8316857, 8673105, 9535554, 11102452, 11748309, 12404107, 12668451, 12707239, 12818575, 14594949, 15829506, 16076902, 16837010, 17606808, 18987303, 19150977, 20855589, 21310275, 21723297, 21896538, 23283745, 23365102, 23727233, 24111713, 24793961, 25324513, 25351510, 26116789, 26497160, 26914223, 27378946, 27532257, 30681346 ClinVar
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 C1837471 MYL3 Causal Pathogenic evidence from ClinVar 8673105, 12021217, 12707239, 16754800, 23594557, 24111713, 25611685, 27532257, 30681346 ClinVar