| Disease ID | Source | Name | Description |
| 617350 | OMIM | Developmental and epileptic encephalopathy 52 (DEE52) | A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE52 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
| 615377 | OMIM | Atrial fibrillation, familial, 13 (ATFB13) | A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. The disease is caused by variants affecting the gene represented in this entry. |
| 604233 | OMIM | Generalized epilepsy with febrile seizures plus 1 (GEFS+1) | A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. The disease is caused by variants affecting the gene represented in this entry. |
| 612838 | OMIM | Brugada syndrome 5 (BRGDA5) | A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. The gene represented in this entry may be involved in disease pathogenesis. |