| exon_id | ENSE00003355614, ENSE00003624232, ENSE00003673908, ENSE00003629179, ENSE00003507372, ENSE00003502012, ENSE00003562308, ENSE00003676212, ENSE00003527690, ENSE00003611675, ENSE00000844202, ENSE000019434 |
| disease_description | Congenital Abnormality,Spinocerebellar Ataxia Type 7,Cardiovascular Diseases,GLUCOCORTICOID DEFICIENCY 1,Chronic Lymphocytic Leukemia,Ischemic Cerebrovascular Accident,Late-Infantile Neuronal Ceroid Lipfuscinosis,Aplastic Anemia,HIV Infections,Malignant neoplasm of breast,Cohen syndrome,melanoma,Renal Cell Carcinoma,Congenital chromosomal disease,Pancytopenia,Anisometropia,Dyskeratosis Congenita,Bone Marrow Diseases,Diabetes Mellitus, Non-Insulin-Dependent,Liver carcinoma,Ischemic stroke,Hereditary Melanoma,Lung diseases,Angle Closure Glaucoma,Precursor B-cell lymphoblastic leukemia,Neuronal Ceroid-Lipofuscinoses,Brachydactyly,Cerebrovascular Disorders,cystic disease,HOYERAAL-HREIDARSSON SYNDROME |