| exon_id | ENSE00003048599, ENSE00003634902, ENSE00003466490, ENSE00003598257, ENSE00003686421, ENSE00003488887, ENSE00003547484, ENSE00003594377, ENSE00002436759, ENSE00003579384, ENSE00003498593, ENSE000036226 |
| disease_description | MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder),Hypokalemic periodic paralysis,Congenital Abnormality,Secondary malignant neoplasm of bone,Heart failure,Cardiac Arrhythmia,Muscle hypotonia,Prostate carcinoma,Myopathies, Nemaline,Cardiovascular Diseases,Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia,Camptocormia,periodic paralysis (finding),Idiopathic pulmonary hypertension,Ophthalmoparesis,Exanthema,Myopathy,HIV Infections,Neonatal Hypotonia,Disorder characterized by fever,Hyperparathyroidism, Secondary,Infection,Brooke-Spiegler syndrome,Congenital Fiber Type Disproportion,Familial ventricular tachycardia,Malignant hyperpyrexia due to anesthesia,Spots on skin,Carcinoma of lung,Renal Cell Carcinoma,3-Methylglutaconic Aciduria Type IV,Cerebral Vasospasm,Left Ventricular Hypertrophy,Multi-core congenital myopathy,Malignant hyperthermia susceptibility type 1,Congenital Myotonic Dystrophy,Congenital myopathy (disorder),Sudden death,Paresis,Neurolep |