| exon_id | ENSE00002262342, ENSE00003574740, ENSE00003503892, ENSE00003616427, ENSE00003607099, ENSE00003517194, ENSE00000754963, ENSE00000754964, ENSE00000754970, ENSE00001128628, ENSE00001128642, ENSE000011286 |
| disease_description | Congenital Abnormality,SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE,Charcot-Marie-Tooth Disease,Pruritus,Distal Spinal Muscular Atrophy,Irritable Bowel Syndrome,Vocal Cord Paralysis,Inflammatory pain,Peripheral Neuropathy,Spinal Muscular Atrophy,Fibrosis, Liver,Metatropic dwarfism,Burn scar,Dwarfism,Sensory neuropathy,Skin carcinoma,Hepatoblastoma,Spondylometaphyseal dysplasia, Kozlowski type,Pain,Arthropathy,Inherited neuropathies,Secondary hypertension,nervous system disorder,Parastremmatic dwarfism,Diabetic Nephropathy,Degenerative polyarthritis,Hyperalgesia,Cystic Fibrosis,DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder),Precancerous Conditions,Scapuloperoneal Form of Spinal Muscular Atrophy,Digital Arthropathy-Brachydactyly, Familial,HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder),Respiration Disorders,Bone Diseases,Childhood asthma,Charcot-Marie-Tooth disease, Type 2C,Inflammatory Bowel Diseases,Channelopathies,Neuropathy,Hereditary Motor and Sensory Neuropathies,SPINAL MU |