| exon_id | ENSE00001741350, ENSE00003585721, ENSE00003510869, ENSE00003465850, ENSE00003488148, ENSE00003515410, ENSE00003614194, ENSE00003665259, ENSE00003563628, ENSE00003538459, ENSE00003501323, ENSE000035825 |
| disease_description | Seizures,Intellectual Disability,Lupus Erythematosus, Systemic,Arteriovenous fistula,Autistic Disorder,Sturge-Weber Syndrome,Triple Negative Breast Neoplasms,Hypotrichosis,Congenital arteriovenous malformation,Atrial Septal Defects,Autism Spectrum Disorders,Capillary malformation (disorder),Mental Retardation,Tumor Initiation,Memory Disorders,Learning Disorders,Malignant tumor of colon,Myoclonic Absence Epilepsy,Chylothorax,Cutaneous capillary malformation,Telangiectasis,Multiple Acyl Coenzyme A Dehydrogenase Deficiency,Vascular anomaly,CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder),Epilepsy, Generalized,Epilepsy,Mental Retardation, Autosomal Dominant 5,Congenital vascular anomaly,Schizophrenia,Arteriovenous hemangioma,Squamous cell carcinoma of skin,Colon Carcinoma,Port-Wine Stain |