| exon_id | ENSE00001775889, ENSE00003505640, ENSE00003480556, ENSE00003785368, ENSE00003532224, ENSE00003480852, ENSE00003614045, ENSE00000727730, ENSE00003556646, ENSE00003461265, ENSE00003644233, ENSE000022235 |
| disease_description | Nijmegen Breakage Syndrome,Lupus Erythematosus, Systemic,Fanconi Anemia,Uterine Corpus Cancer,Hypopharyngeal Carcinoma,Spondylarthropathies,Cancer of Head and Neck,Lymphopenia,Periodontal Diseases,Aggressive periodontitis, generalized,Malignant neoplasm of lung,Chronic Lymphocytic Leukemia,Nasopharyngeal carcinoma,Adenocarcinoma,Hypopharyngeal Cancer,de novo myelodysplastic syndromes,Aplastic Anemia,Neoplasm Metastasis,Lymphoma, Non-Hodgkin,Non-Small Cell Lung Carcinoma,Malignant neoplasm of breast,Breast Carcinoma,Hematologic Neoplasms,Lymphoma, Large-Cell, Follicular,Malignant neoplasm of larynx,melanoma,Adenocarcinoma of pancreas,Carcinoma of bladder,Recurrent infections (sinusitis and bacterial pneumonia and meningitis),Carcinoma of lung,Anaplastic thyroid carcinoma,ATAXIA-TELANGIECTASIA-LIKE DISORDER,Renal Cell Carcinoma,Congenital chromosomal disease,Endometrial Carcinoma,Cancer of Urinary Tract,Acute lymphocytic leukemia,Hodgkin Disease,Mental Retardation,Carcinogenesis,Microcep |