| exon_id | ENSE00002907027, ENSE00003636757, ENSE00003632691, ENSE00003475497, ENSE00000951793, ENSE00003565834, ENSE00003561689, ENSE00002853415 |
| disease_description | Heart failure,Glycogen Storage Disease IIIB,Mitochondrial Myopathies,Myopathy,HIV Infections,Coronary heart disease,Failure to Thrive,Amyotrophic Lateral Sclerosis,Myasthenias,Normokalemic Periodic Paralysis,Glycogen storage disease type II,Inclusion Body Myopathy, Sporadic,Weakness of limb,Inflammatory cardiomyopathy,Muscular Dystrophies, Limb-Girdle,Cytochrome-c Oxidase Deficiency,Desmoplastic fibroma,Impaired exercise tolerance,Iron Overload,Glycogen Storage Disease,Thymoma,Congenital myopathy (disorder),Congenital Structural Myopathy,Fibroid Tumor,Ischemia,Muscular Dystrophy,Congenital aneurysm of ascending aorta,Muscular Dystrophy, Duchenne,Malignant hyperpyrexia due to anesthesia,Helminthiasis,Muscular Dystrophy, Facioscapulohumeral,Myasthenia Gravis,Impaired glucose tolerance,Tumor Progression,Channelopathies,Sarcoma,Neuromuscular Diseases,Muscle Weakness,Congestive heart failure,Hypokalemic periodic paralysis,Myotonic Dystrophy,Thyrotoxic periodic paralysis,Generalized glycogen |