| exon_id | ENSE00002393936, ENSE00001608216, ENSE00000909406, ENSE00001243736, ENSE00000909408, ENSE00003680819, ENSE00001157902, ENSE00002389004 |
| disease_description | Congenital Abnormality,Congenital blindness,JOUBERT SYNDROME 5,Autistic Disorder,Central topographic island,Blind Vision,SENIOR-LOKEN SYNDROME 6,BARDET-BIEDL SYNDROME 14 (disorder),Atrial Septal Defects,MECKEL SYNDROME, TYPE 4,Congenital anomaly of the kidney,Streptococcal lymphadenitis of swine,Leber Congenital Amaurosis,Meckel-Gruber syndrome,Retinitis Pigmentosa,Kidney Failure,Tuberculosis,Retinal Degeneration,Renal dysplasia and retinal aplasia (disorder),Kidney Diseases,Nephronophthisis,Retinal Diseases,Familial aplasia of the vermis,POLYCYSTIC KIDNEY DISEASE 1,Cyst,Bardet-Biedl Syndrome,Simple renal cyst,Signs and Symptoms, Respiratory,Meckel syndrome type 1,Degenerative disorder,LEBER CONGENITAL AMAUROSIS 10 (disorder),Intellectual Disability,Retinal Dystrophies,Optic Atrophy, Hereditary, Leber,Photoreceptor degeneration,Congestive heart failure,Unspecified visual loss |