| S.NO | Uniprot ID | Protein Name | Sequence Length | RUN Repeats region | Disease |
| 1 | Q6IQ26 | DENN domain-containing protein 5A | 1287 | "DISEASE: Epileptic encephalopathy, early infantile, 49 (EIEE49) [MIM:617281]: 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. EIEE49 is a severe autosomal recessive form characterized by onset of seizures in the neonatal period, global developmental delay, intellectual disability, and additionally cerebral calcifications and coarse facial features. Note=The disease is caused by mutations affecting the gene represented in this entry". |