| exon_id | ENSE00002363155, ENSE00003579049, ENSE00001767741, ENSE00001275435, ENSE00001275428, ENSE00001673780, ENSE00001275412, ENSE00001275406, ENSE00002337457, ENSE00002395143 |
| disease_description | Seizures,Essential Tremor,Bipolar Disorder,Colorectal Cancer,Congenital malformation syndrome,Heart failure,Paresis,Hypercholesterolemia, Familial,Pseudoachondroplasia,Bronchopulmonary Dysplasia,Status Epilepticus,Movement Disorders,Early infantile epileptic encephalopathy with suppression bursts,Hydrops Fetalis,Sarcoma,HIV Infections,Epileptic encephalopathy,Motor disturbances,Punctate inner choroidopathy,Familial Mediterranean Fever,Multiple Epiphyseal Dysplasia,Mental disorders,General Paralysis,nervous system disorder,Attention deficit hyperactivity disorder,Degenerative polyarthritis,Cerebellar atrophy,Static Tremor,Erythema,Mental Retardation,alpha-Thalassemia,Tremor,Hyperalgesia, Thermal,Multiple Sclerosis,Cervix carcinoma,alpha^0^ Thalassemia,Diastrophic dysplasia,EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13,Chondrodysplasia,Seizures, Focal,Metabolic Diseases,Intellectual Disability,alpha^+^ Thalassemia,X-linked infantile spasm syndrome,Thalassemia,Medulloblastoma,Borderline P |