| Disease ID | Source | Name | Description |
| 618280 | OMIM | Cardiac-urogenital syndrome (CUGS) | An autosomal dominant syndrome characterized by partial anomalous pulmonary venous return, tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. The disease is caused by variants affecting the gene represented in this entry. |
| 618113 | OMIM | Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MMERV) | An autosomal dominant disease characterized by episodes of acute encephalitis associated with impaired consciousness, delirious behavior, seizures, and reversible splenial lesions observed on diffusion magnetic resonance imaging. Most patients completely recover and there are no neurologic sequelae. MMERV occurs in children and is frequently associated with a trigger, such as a febrile illness. The disease may be caused by variants affecting the gene represented in this entry. |