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 |