| exon_id | ENSE00001426249, ENSE00001263032, ENSE00001362535, ENSE00000741117, ENSE00001362525, ENSE00001362523, ENSE00001262563, ENSE00001362517, ENSE00001362516, ENSE00001671750, ENSE00000740694, ENSE000016315 |
| disease_description | Charcot-Marie-Tooth Disease, Axonal, Type 2a1,Hereditary Motor and Sensory Neuropathy Type I,Malignant neoplasm of stomach,Optic Atrophy, Autosomal Dominant,Neurodegenerative Disorders,Charcot-Marie-Tooth Disease,Paresis,Hepatitis,Stomach Carcinoma,Spinal Muscular Atrophy,Central neuroblastoma,Motor Neuron Disease,Neural crest tumor,Polyneuropathy,Sensory neuropathy,Pheochromocytoma,Polyradiculoneuropathy, Chronic Inflammatory Demyelinating,Neuroblastoma,Hereditary Neurodegenerative Disorder,Primary congenital glaucoma,Amyotrophic Lateral Sclerosis,Unspecified idiopathic peripheral neuropathy,Mandibuloacral dysostosis,Inherited neuropathies,Platelet mean volume finding,Multiple Sclerosis,Muscle Weakness,Cerebrovascular accident,Inherited Peripheral Neuropathy,Liver carcinoma,Charcot-Marie-Tooth disease, Type 2A,Hepatitis B, Chronic,Spastic Paraplegia, Hereditary,Neuropathy,Mitral Valve Stenosis,Hereditary Motor and Sensory Neuropathies,Secondary malignant neoplasm of lymph node,Medullo |