Gene
|
Condition
|
| ACTA2 |
Aortopathy |
| ACTC1 |
Cardiomyopathy |
| ACTN2 |
Cardiomyopathy |
| ACVRL1 |
High blood pressure |
| ANKRD26 |
Thrombocytopenia |
| ANKRD26 |
Thrombocytopenia |
| APOA1 |
Cardiovascular disease |
| BAG3 |
Aortopathy, Arrhythmia |
| BMPR2 |
High blood pressure |
| CACNA1C |
Arrhythmia, Cardiomyopathy |
| CALM1 |
Arrhythmia |
| CALM2 |
Arrhythmia |
| CALM3 |
Arrhythmia |
| CASQ2 |
Arrhythmia |
| CAV1 |
High blood pressure |
| CAV3 |
Cardiomyopathy |
| CBS |
Homocystinuria |
| COL1A1 |
Vascular Ehlers-Danlos syndrome | Classical Ehlers-Danlos syndrome | Osteogenesis imperfecta |
| COL3A1 |
Vascular Ehlers-Danlos syndrome |
| COL5A1 |
Classical Ehlers-Danlos Syndrome |
| COL5A2 |
Classical Ehlers-Danlos Syndrome |
| CRYAB |
Cardiomyopathy |
| CSRP3 |
Cardiomyopathy |
| DES |
Arrhythmia, Cardiomyopathy |
| DMD |
Cardiomyopathy |
| DSC2 |
Arrhythmia, Cardiomyopathy |
| DSG2 |
Arrhythmia, Cardiomyopathy |
| DSP |
Arrhythmia, Cardiomyopathy |
| ELN |
Connective tissue, aortopathy |
| EMD |
Arrhythmia, Cardiomyopathy |
| ENG |
High blood pressure |
| ETV6 |
Thrombocytopenia |
| F11 |
Thrombophilia |
| F2 |
Thrombophilia |
| F5 |
Thrombophilia |
| F9 |
Haemophilia |
| FBN1 |
Aortopathy |
| FHL1 |
Cardiomyopathy |
| FLNC |
Arrhythmia, Cardiomyopathy |
| GDF2 |
Arrhythmia, Cardiomyopathy |
| GLA |
High blood pressure |
| HCN4 |
Arrhythmia |
| JUP |
Arrhythmia, Cardiomyopathy |
| KCNE1 |
Arrhythmia |
| KCNK3 |
Pulmonary arterial hypertension |
| KCNH2 |
Arrhythmia |
| KCNJ2 |
Arrhythmia |
| KCNQ1 |
Arrhythmia |
| LAMP2 |
Cardiomyopathy |
| LDLR |
Hypercholesterolaemia |
| LDLRAP1 |
Hypercholesterolaemia |
| LMNA |
Arrhythmia, Cardiomyopathy |
| LOX |
Aortopathy |
| MYBPC3 |
Cardiomyopathy |
| MYH11 |
Aortopathy |
| MYH7 |
Cardiomyopathy |
| MYL2 |
Cardiomyopathy |
| MYL3 |
Cardiomyopathy |
| MYLK |
Cardiomyopathy |
| NKX2-5 |
Cardiomyopathy |
| PCSK9 |
Hypercholesterolaemia |
| PKP2 |
Arrhythmia, Cardiomyopathy |
| PLN |
Arrhythmia, Cardiomyopathy |
| PRKAG2 |
Arrhythmia, Cardiomyopathy |
| PRKG1 |
Aortopathy |
| PROC |
Thrombophilia |
| PROS1 |
Thrombophilia |
| RBM20 |
Cardiomyopathy |
| RYR2 |
Arrhythmia, Cardiomyopathy |
| SCN5A |
Arrhythmia, Cardiomyopathy |
| SERPINC1 |
High blood pressure |
| SMAD3 |
Aortopathy |
| SMAD4 |
Aortopathy, High blood pressure |
| SMAD9 |
Pulmonary hypertension, primary, 2 |
| TECRL |
Arrhythmia |
| TGFB2 |
Aortopathy |
| TGFB3 |
Aortopathy |
| TGFBR1 |
Aortopathy |
| TGFBR2 |
Aortopathy |
| TMEM43 |
Cardiomyopathy |
| TNNC1 |
Cardiomyopathy |
| TNNI3 |
Cardiomyopathy |
| TNNT2 |
Cardiomyopathy |
| TPM1 |
Cardiomyopathy |
| TRDN |
Catecholaminergic Polymorphic Ventricular Tachycardia |
| TTN* |
TTN-cardiomyopathy |
| TTR |
TTR-cardiomyopathy - Hereditary Transthyretin Amyloidosis |
| VCL |
Cardiomyopathy |