| 1 | Breast cancer | Enrichment | ATM, BARD1, BRCA1, FANCC, MRE11, NBN, RAD50, RAD51, TP53 | 16.00 |
| 2 | Ovarian cancer | Enrichment | ATM, BARD1, BRCA1, FANCA, FANCC, FANCD2, FANCE, FANCG, MRE11, NBN, RAD50, TP53 | 16.00 |
| 3 | Pancreatic cancer | Enrichment | ATM, BRCA1, FANCE, FANCG, NBN, RBBP8, TP53 | 16.00 |
| 4 | Fanconi anemia, complementation group a | Enrichment | BRCA1, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCL, RAD51 | 11.89 |
| 5 | Hereditary breast carcinoma | Enrichment | ATM, BARD1, BRCA1, NBN, RAD50, RAD51, TP53 | 11.84 |
| 6 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BARD1, BRCA1, MRE11, NBN, RAD50, RAD51, TP53 | 10.89 |
| 7 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BARD1, BRCA1, FANCA, FANCC, MRE11, NBN, RAD50, TP53 | 10.75 |
| 8 | Gastric cancer | Enrichment | ATM, BARD1, BRCA1, NBN, TP53 | 7.55 |
| 9 | Prostate cancer | Enrichment | ATM, BRCA1, NBN, TP53 | 6.41 |
| 10 | Colorectal cancer | Enrichment | ATM, BRCA1, FANCC, FANCE, TP53 | 5.99 |
| 11 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1, NBN | 5.61 |
| 12 | Endometrial cancer | Enrichment | ATM, BARD1, BRCA1 | 4.94 |
| 13 | Hepatoblastoma | Enrichment | BARD1, FANCA, TP53 | 4.94 |
| 14 | Hepatocellular carcinoma | Enrichment | NBN, RAD50, TP53 | 4.88 |
| 15 | Adenocarcinoma | Enrichment | ATM, TP53 | 4.88 |
| 16 | Nijmegen breakage syndrome-like disorder | Enrichment | MRE11, RAD50 | 4.58 |
| 17 | Bladder cancer | Enrichment | ATM, BRCA1, TP53 | 4.51 |
| 18 | Colonic benign neoplasm | Enrichment | ATM, MRE11 | 3.80 |
| 19 | Leukemia, chronic lymphocytic | Enrichment | ATM, TP53 | 3.71 |
| 20 | Myeloma, multiple | Enrichment | ATM, BARD1, TP53 | 3.65 |
| 21 | Uterine corpus cancer | Enrichment | ATM, BRCA1 | 3.62 |
| 22 | Seckel syndrome | Enrichment | ATR, RBBP8 | 3.40 |
| 23 | Pituitary stalk interruption syndrome | Enrichment | FANCA, FANCG | 3.40 |
| 24 | Rhabdomyosarcoma | Enrichment | BRCA1, TP53 | 3.28 |
| 25 | Gliosarcoma | Enrichment | ATM, TP53 | 3.28 |
| 26 | Giant cell glioblastoma | Enrichment | ATM, TP53 | 3.23 |
| 27 | Diffuse large b-cell lymphoma | Enrichment | NBN, TP53 | 3.13 |
| 28 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.67 |
| 29 | Seckel syndrome 2 | Enrichment | RBBP8 | 2.67 |
| 30 | Seckel syndrome 1 | Enrichment | ATR | 2.67 |
| 31 | Mirror movements 2 | Enrichment | RAD51 | 2.67 |
| 32 | Fanconi anemia, complementation group g | Enrichment | FANCG | 2.67 |
| 33 | Fanconi anemia, complementation group r | Enrichment | RAD51 | 2.67 |
| 34 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.67 |
| 35 | Papilloma of choroid plexus | Enrichment | TP53 | 2.67 |
| 36 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.67 |
| 37 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.67 |
| 38 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.67 |
| 39 | Jawad syndrome | Enrichment | RBBP8 | 2.67 |
| 40 | Ataxia-telangiectasia-like disorder 1 | Enrichment | MRE11 | 2.67 |
| 41 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 2.67 |
| 42 | Immunodeficiency 26 with or without neurologic abnormalities | Enrichment | PRKDC | 2.67 |
| 43 | Ataxia-telangiectasia-like disorder 2 | Enrichment | PCNA | 2.67 |
| 44 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.67 |
| 45 | Ductal carcinoma in situ | Enrichment | TP53 | 2.67 |
| 46 | Fanconi anemia, complementation group l | Enrichment | FANCL | 2.67 |
| 47 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.67 |
| 48 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.67 |
| 49 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.67 |
| 50 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.67 |
| 51 | Choroid plexus cancer | Enrichment | TP53 | 2.67 |
| 52 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.67 |
| 53 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 2.67 |
| 54 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.67 |
| 55 | Leukemia, acute myeloid | Enrichment | FANCD2, TP53 | 2.49 |
| 56 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.37 |
| 57 | Cervical cancer | Enrichment | TP53 | 2.37 |
| 58 | Vacterl association, x-linked, with or without hydrocephalus | Enrichment | FANCL | 2.37 |
| 59 | Histiocytoma, angiomatoid fibrous | Enrichment | EWSR1 | 2.37 |
| 60 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.37 |
| 61 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.37 |
| 62 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.37 |
| 63 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.37 |
| 64 | Fanconi anemia, complementation group e | Enrichment | FANCE | 2.37 |
| 65 | Congenital fibrosarcoma | Enrichment | TP53 | 2.37 |
| 66 | High grade glioma | Enrichment | ATM | 2.37 |
| 67 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.37 |
| 68 | Sarcoma | Enrichment | TP53 | 2.37 |
| 69 | Cervix carcinoma | Enrichment | TP53 | 2.37 |
| 70 | Hodgkin's lymphoma | Enrichment | TP53 | 2.37 |
| 71 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.37 |
| 72 | Inflammatory breast carcinoma | Enrichment | BRCA1 | 2.37 |
| 73 | Peritoneum cancer | Enrichment | BRCA1 | 2.37 |
| 74 | Bilateral breast cancer | Enrichment | BRCA1 | 2.37 |
| 75 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.37 |
| 76 | Desmoplastic small round cell tumor | Enrichment | EWSR1 | 2.37 |
| 77 | Ataxia-telangiectasia | Enrichment | ATM | 2.19 |
| 78 | Nijmegen breakage syndrome | Enrichment | NBN | 2.19 |
| 79 | Polycythemia vera | Enrichment | ATM | 2.19 |
| 80 | Osteogenic sarcoma | Enrichment | TP53 | 2.19 |
| 81 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.19 |
| 82 | Fanconi anemia, complementation group f | Enrichment | FANCF | 2.19 |
| 83 | Koolen-de vries syndrome | Enrichment | ATM | 2.19 |
| 84 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.19 |
| 85 | Anaplastic astrocytoma | Enrichment | TP53 | 2.19 |
| 86 | Squamous cell carcinoma | Enrichment | TP53 | 2.19 |
| 87 | Bone osteosarcoma | Enrichment | TP53 | 2.19 |
| 88 | Melanoma of soft tissue | Enrichment | EWSR1 | 2.19 |
| 89 | Primary ovarian insufficiency | Enrichment | FANCA, NBN | 2.15 |
| 90 | Mirror movements 1 | Enrichment | RAD51 | 2.07 |
| 91 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Enrichment | MRE11 | 2.07 |
| 92 | Small cell cancer of the lung | Enrichment | TP53 | 2.07 |
| 93 | Erythrocytosis, familial, 2 | Enrichment | FANCD2 | 2.07 |
| 94 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 2.07 |
| 95 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1 | 2.07 |
| 96 | Cholangiocarcinoma | Enrichment | BRCA1 | 2.07 |
| 97 | Mantle cell lymphoma | Enrichment | ATM | 2.07 |
| 98 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 2.07 |
| 99 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 2.07 |
| 100 | Vacterl association | Enrichment | FANCL | 2.07 |
| 101 | Oculomotor apraxia | Enrichment | ATM | 2.07 |
| 102 | Fanconi anemia, complementation group d2 | Enrichment | FANCD2 | 1.97 |
| 103 | Vater/vacterl association | Enrichment | FANCL | 1.97 |
| 104 | Von hippel-lindau syndrome | Enrichment | FANCD2 | 1.97 |
| 105 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.97 |
| 106 | Chondrosarcoma, extraskeletal myxoid | Enrichment | EWSR1 | 1.97 |
| 107 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1 | 1.97 |
| 108 | Lymphoma | Enrichment | TP53 | 1.97 |
| 109 | Glioblastoma | Enrichment | ATM | 1.97 |
| 110 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.97 |
| 111 | Li-fraumeni syndrome | Enrichment | TP53 | 1.89 |
| 112 | Adrenocortical carcinoma | Enrichment | TP53 | 1.89 |
| 113 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.89 |
| 114 | Breast adenocarcinoma | Enrichment | TP53 | 1.89 |
| 115 | Esophageal cancer | Enrichment | TP53 | 1.83 |
| 116 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.83 |
| 117 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.83 |
| 118 | Essential thrombocythemia | Enrichment | TP53 | 1.83 |
| 119 | Gallbladder cancer | Enrichment | TP53 | 1.83 |
| 120 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.83 |
| 121 | Glioma susceptibility 1 | Enrichment | TP53 | 1.77 |
| 122 | Fanconi anemia, complementation group c | Enrichment | FANCC | 1.77 |
| 123 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.77 |
| 124 | Ewing sarcoma | Enrichment | EWSR1 | 1.77 |
| 125 | Neurofibromatosis, type i | Enrichment | EWSR1 | 1.72 |
| 126 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.72 |
| 127 | Primary hyperaldosteronism | Enrichment | TP53 | 1.72 |
| 128 | Lynch syndrome 1 | Enrichment | ATM | 1.67 |
| 129 | Aplastic anemia | Enrichment | NBN | 1.67 |
| 130 | Familial colorectal cancer | Enrichment | TP53 | 1.67 |
| 131 | Immune deficiency disease | Enrichment | ATM | 1.63 |
| 132 | Leukemia, acute lymphoblastic | Enrichment | NBN | 1.63 |
| 133 | Myelodysplastic syndrome | Enrichment | TP53 | 1.63 |
| 134 | Familial colorectal cancer type x | Enrichment | ATM | 1.63 |
| 135 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.60 |
| 136 | Premature menopause | Enrichment | NBN | 1.56 |
| 137 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.53 |
| 138 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.53 |
| 139 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.50 |
| 140 | Lissencephaly | Enrichment | NBN | 1.36 |
| 141 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.32 |
| 142 | Lung cancer | Enrichment | BRCA1 | 1.18 |
| 143 | Diamond-blackfan anemia | Enrichment | TP53 | 1.13 |
| 144 | Systemic lupus erythematosus | Enrichment | UBE2L3 | 1.10 |
| 145 | Microcephaly | Enrichment | NBN | 0.63 |