| Disease ID | Source | Name | Description |
| 616211 | OMIM | Developmental and epileptic encephalopathy 28 (DEE28) | 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. The disease is caused by variants affecting the gene represented in this entry. |
| 614322 | OMIM | Spinocerebellar ataxia, autosomal recessive, 12 (SCAR12) | A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR12 is additionally characterized by onset of generalized seizures in infancy, and delayed psychomotor development with mental retardation. Some patients may also show spasticity. The disease is caused by variants affecting the gene represented in this entry. |
| 133239 | OMIM | Esophageal cancer (ESCR) | A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. The disease may be caused by variants affecting the gene represented in this entry. |