| Disease ID | Source | Name | Description |
| 613251 | OMIM | Cardiomyopathy, familial hypertrophic 14 (CMH14) | A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by variants affecting the gene represented in this entry. |
| 613252 | OMIM | Cardiomyopathy, dilated 1EE (CMD1EE) | A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry. |
| 614089 | OMIM | Atrial septal defect 3 (ASD3) | A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. The disease is caused by variants affecting the gene represented in this entry. |
| 614090 | OMIM | Sick sinus syndrome 3 (SSS3) | The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. Disease susceptibility is associated with variants affecting the gene represented in this entry. The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers. |