exon_id | ENSE00001747373, ENSE00001460146, ENSE00000894116, ENSE00001626039, ENSE00001261008, ENSE00002534810, ENSE00001551924, ENSE00001162253, ENSE00000894128, ENSE00001758151 |
disease_description | Intellectual Disability,Muscle hypotonia,NEUROPATHY, HEREDITARY SENSORY, TYPE IIC,Nasopharyngeal carcinoma,SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder),Sensory neuropathy,Muscle Spasticity,Tuberous Sclerosis,Spastic Paraplegia, Hereditary,Neuroblastoma,Impaired cognition,Neuropathy, Hereditary Sensory And Autonomic, Type IIA,Cerebellar atrophy,Precancerous Conditions,Central neuroblastoma,Autonomic neuropathy,Neuropathy,Spastic Paraplegia,Diabetes Mellitus,Paraparesis, Spastic,Hereditary Sensory Autonomic Neuropathy, Type 2,MENTAL RETARDATION, AUTOSOMAL DOMINANT 9,Hereditary Sensory and Autonomic Neuropathies,Epilepsy,Squamous cell carcinoma of the head and neck,Hereditary Motor and Sensory-Neuropathy Type II |