| exon_id | ENSE00001932854, ENSE00003633314, ENSE00003469878, ENSE00003547185, ENSE00003645138, ENSE00003602075, ENSE00003484426, ENSE00003575009, ENSE00003565868, ENSE00003654056, ENSE00003496507, ENSE000014131 |
| disease_description | Congenital Abnormality,Muscle hypotonia,Bardet-Biedl Syndrome,Cystic Kidney Diseases,Choroidal Neovascularization,Hyperparathyroidism, Secondary,Focal glomerulosclerosis,Renal dysplasia and retinal aplasia (disorder),JOUBERT SYNDROME 4 (disorder),Mental Retardation,Age related macular degeneration,Kidney Failure,Retinal Degeneration,Neurologic Symptoms,Kidney Diseases,Nephronophthisis,Apraxia, oculomotor, Cogan type,NEPHRONOPHTHISIS 2,Familial aplasia of the vermis,Hydrocephalus, Normal Pressure,Polycystic Kidney Diseases,Kidney Failure, Chronic,Nephritis, Interstitial,Nephronophthisis - medullary cystic disease,Nephronophthisis, familial juvenile,Oculomotor apraxia |