| exon_id | ENSE00002375045, ENSE00003461117, ENSE00003563269, ENSE00003582842, ENSE00003655335, ENSE00003595054, ENSE00003530682, ENSE00003659272, ENSE00003637853, ENSE00002392502 |
| disease_description | Seizures,DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT,Moyamoya Disease,Fanconi Anemia,Zellweger Spectrum,Progressive Neoplastic Disease,Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency,Cerebellar degeneration,Periodontal Diseases,Frontotemporal dementia,Spastic Ataxia,3-Methylglutaconic aciduria type 2,Bacteremia,Osteitis Deformans,Diabetes Mellitus,Peroxisome biogenesis disorders,Tachycardia,HIV Infections,Malignant neoplasm of breast,Breast Carcinoma,Adrenal gland hypofunction,melanoma,Aortic Aneurysm, Thoracic,nervous system disorder,Cardiovascular Diseases,Attention deficit hyperactivity disorder,Vascular Diseases,Pick Disease of the Brain,Muscular Atrophy,Pili torti-deafness syndrome,Glucocorticoid deficiency with achalasia,Progressive cGVHD,Chronic Periodontitis,Spastic Paraplegia Type 7,Alzheimer's Disease,Diabetes,Kidney Failure,Tumor Progression,Liver carcinoma,Mural thrombus of heart,Moyamoya disease 1,Spastic Paraplegia, Hereditary,AURAL ATRESIA, CONGENITAL,Carci |