| 1 | Breast cancer | Enrichment | ATM, BRCA1, CHEK2, JUN, MRE11, NBN, RAD50, RAD51, TP53 | 16.00 |
| 2 | Hereditary breast carcinoma | Enrichment | ATM, BRCA1, CHEK2, NBN, RAD50, RAD51, TP53 | 11.41 |
| 3 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BRCA1, CHEK2, MRE11, NBN, RAD50, RAD51, TP53 | 11.18 |
| 4 | Ovarian cancer | Enrichment | ATM, BRCA1, CHEK2, FANCD2, MRE11, NBN, RAD50, TP53 | 9.73 |
| 5 | Pancreatic cancer | Enrichment | ATM, BRCA1, CHEK2, NBN, TP53 | 8.30 |
| 6 | Prostate cancer | Enrichment | ATM, BRCA1, CHEK2, NBN, TP53 | 7.95 |
| 7 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1, CHEK2, NBN | 7.53 |
| 8 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BRCA1, CHEK2, MRE11, NBN, RAD50, TP53 | 7.33 |
| 9 | Gastric cancer | Enrichment | ATM, BRCA1, CHEK2, NBN, TP53 | 7.05 |
| 10 | Li-fraumeni syndrome | Enrichment | CHEK2, MDM2, TP53 | 6.47 |
| 11 | Bladder cancer | Enrichment | ATM, BRCA1, CDKN1A, TP53 | 6.02 |
| 12 | Colonic benign neoplasm | Enrichment | ATM, CHEK2, MRE11 | 5.85 |
| 13 | Uterine corpus cancer | Enrichment | ATM, BRCA1, CHEK2 | 5.55 |
| 14 | Li-fraumeni syndrome 1 | Enrichment | CHEK2, TP53 | 5.16 |
| 15 | Sarcoma | Enrichment | CHEK2, TP53 | 5.16 |
| 16 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG, NFKBIA | 5.16 |
| 17 | Gliosarcoma | Enrichment | ATM, NFKBIA, TP53 | 5.03 |
| 18 | Giant cell glioblastoma | Enrichment | ATM, NFKBIA, TP53 | 4.94 |
| 19 | Diffuse large b-cell lymphoma | Enrichment | CHEK2, NBN, TP53 | 4.79 |
| 20 | Osteogenic sarcoma | Enrichment | CHEK2, TP53 | 4.69 |
| 21 | Nasopharyngeal carcinoma | Enrichment | NFKBIA, TP53 | 4.69 |
| 22 | Adenocarcinoma | Enrichment | ATM, TP53 | 4.69 |
| 23 | Bone osteosarcoma | Enrichment | CHEK2, TP53 | 4.69 |
| 24 | Endometrial cancer | Enrichment | ATM, BRCA1, CHEK2 | 4.66 |
| 25 | Hepatocellular carcinoma | Enrichment | NBN, RAD50, TP53 | 4.59 |
| 26 | Small cell cancer of the lung | Enrichment | TP53, TP73 | 4.39 |
| 27 | Nijmegen breakage syndrome-like disorder | Enrichment | MRE11, RAD50 | 4.39 |
| 28 | Colorectal cancer | Enrichment | ATM, BRCA1, CHEK2, TP53 | 4.10 |
| 29 | Fanconi anemia, complementation group a | Enrichment | BRCA1, FANCD2, RAD51 | 3.97 |
| 30 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1, TP53 | 3.85 |
| 31 | Wiedemann-steiner syndrome | Enrichment | SMC1A, SMC3 | 3.76 |
| 32 | Lynch syndrome 1 | Enrichment | ATM, CHEK2 | 3.52 |
| 33 | Leukemia, chronic lymphocytic | Enrichment | ATM, TP53 | 3.52 |
| 34 | Familial colorectal cancer type x | Enrichment | ATM, CHEK2 | 3.43 |
| 35 | Cornelia de lange syndrome 1 | Enrichment | SMC1A, SMC3 | 3.38 |
| 36 | Cornelia de lange syndrome | Enrichment | SMC1A, SMC3 | 3.38 |
| 37 | Lip and oral cavity carcinoma | Enrichment | ABL1, TP53 | 3.35 |
| 38 | Rhabdomyosarcoma | Enrichment | BRCA1, TP53 | 3.10 |
| 39 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.58 |
| 40 | Developmental and epileptic encephalopathy 85 with or without midline brain defects | Enrichment | SMC1A | 2.58 |
| 41 | Incontinentia pigmenti | Enrichment | IKBKG | 2.58 |
| 42 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.58 |
| 43 | Mirror movements 2 | Enrichment | RAD51 | 2.58 |
| 44 | Accelerated tumor formation | Enrichment | MDM2 | 2.58 |
| 45 | Ciliary dyskinesia, primary, 47, and lissencephaly | Enrichment | TP73 | 2.58 |
| 46 | Fanconi anemia, complementation group r | Enrichment | RAD51 | 2.58 |
| 47 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.58 |
| 48 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.58 |
| 49 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.58 |
| 50 | Papilloma of choroid plexus | Enrichment | TP53 | 2.58 |
| 51 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.58 |
| 52 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.58 |
| 53 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.58 |
| 54 | Tumor predisposition syndrome 4 | Enrichment | CHEK2 | 2.58 |
| 55 | Ataxia-telangiectasia-like disorder 1 | Enrichment | MRE11 | 2.58 |
| 56 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.58 |
| 57 | Ductal carcinoma in situ | Enrichment | TP53 | 2.58 |
| 58 | Leiomyosarcoma | Enrichment | CHEK2 | 2.58 |
| 59 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.58 |
| 60 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.58 |
| 61 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.58 |
| 62 | Oocyte/zygote/embryo maturation arrest 21 | Enrichment | CHEK1 | 2.58 |
| 63 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.58 |
| 64 | Choroid plexus cancer | Enrichment | TP53 | 2.58 |
| 65 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.58 |
| 66 | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | Enrichment | PIDD1 | 2.58 |
| 67 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.58 |
| 68 | Lung cancer | Enrichment | BRCA1, CHEK2 | 2.49 |
| 69 | Cornelia de lange syndrome 3 with or without midline brain defects | Enrichment | SMC3 | 2.46 |
| 70 | Bone marrow failure syndrome 6 | Enrichment | MDM4 | 2.46 |
| 71 | Microcephaly | Enrichment | ABL1, NBN, SMC1A | 2.38 |
| 72 | Leukemia, acute myeloid | Enrichment | FANCD2, TP53 | 2.30 |
| 73 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.28 |
| 74 | Cervical cancer | Enrichment | TP53 | 2.28 |
| 75 | Cornelia de lange syndrome 2 | Enrichment | SMC1A | 2.28 |
| 76 | Immunodeficiency 33 | Enrichment | IKBKG | 2.28 |
| 77 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.28 |
| 78 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.28 |
| 79 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.28 |
| 80 | Congenital heart defects, multiple types, 3 | Enrichment | CHEK2 | 2.28 |
| 81 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.28 |
| 82 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.28 |
| 83 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.28 |
| 84 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.28 |
| 85 | Microcephaly and chorioretinopathy, autosomal recessive, 3 | Enrichment | TP53BP1 | 2.28 |
| 86 | Congenital fibrosarcoma | Enrichment | TP53 | 2.28 |
| 87 | High grade glioma | Enrichment | ATM | 2.28 |
| 88 | Cervix carcinoma | Enrichment | TP53 | 2.28 |
| 89 | Hodgkin's lymphoma | Enrichment | TP53 | 2.28 |
| 90 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.28 |
| 91 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.28 |
| 92 | Inflammatory breast carcinoma | Enrichment | BRCA1 | 2.28 |
| 93 | Peritoneum cancer | Enrichment | BRCA1 | 2.28 |
| 94 | Bilateral breast cancer | Enrichment | BRCA1 | 2.28 |
| 95 | Microcephaly and chorioretinopathy 3 | Enrichment | TP53BP1 | 2.28 |
| 96 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.28 |
| 97 | Ataxia-telangiectasia | Enrichment | ATM | 2.10 |
| 98 | Nijmegen breakage syndrome | Enrichment | NBN | 2.10 |
| 99 | Polycythemia vera | Enrichment | ATM | 2.10 |
| 100 | Koolen-de vries syndrome | Enrichment | ATM | 2.10 |
| 101 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 2.10 |
| 102 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.10 |
| 103 | Anaplastic astrocytoma | Enrichment | TP53 | 2.10 |
| 104 | Squamous cell carcinoma | Enrichment | TP53 | 2.10 |
| 105 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 2.10 |
| 106 | Respiratory failure | Enrichment | TP73 | 2.10 |
| 107 | Melanoma of soft tissue | Enrichment | CREB1 | 2.10 |
| 108 | Well-differentiated liposarcoma | Enrichment | MDM2 | 2.10 |
| 109 | Myeloma, multiple | Enrichment | ATM, TP53 | 2.02 |
| 110 | Mirror movements 1 | Enrichment | RAD51 | 1.98 |
| 111 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Enrichment | MRE11 | 1.98 |
| 112 | Erythrocytosis, familial, 2 | Enrichment | FANCD2 | 1.98 |
| 113 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.98 |
| 114 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1 | 1.98 |
| 115 | Cholangiocarcinoma | Enrichment | BRCA1 | 1.98 |
| 116 | Developmental and epileptic encephalopathy 48 | Enrichment | AP3B2 | 1.98 |
| 117 | Mantle cell lymphoma | Enrichment | ATM | 1.98 |
| 118 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.98 |
| 119 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 1.98 |
| 120 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.98 |
| 121 | Hemoglobin c disease | Enrichment | CHEK2 | 1.98 |
| 122 | Autosomal recessive chorioretinopathy-microcephaly syndrome | Enrichment | TP53BP1 | 1.98 |
| 123 | Oculomotor apraxia | Enrichment | ATM | 1.98 |
| 124 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | CHEK1 | 1.98 |
| 125 | Primary ovarian insufficiency | Enrichment | CHEK2, NBN | 1.97 |
| 126 | Fanconi anemia, complementation group d2 | Enrichment | FANCD2 | 1.88 |
| 127 | Von hippel-lindau syndrome | Enrichment | FANCD2 | 1.88 |
| 128 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.88 |
| 129 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.88 |
| 130 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1 | 1.88 |
| 131 | Lymphoma | Enrichment | TP53 | 1.88 |
| 132 | Glioblastoma | Enrichment | ATM | 1.88 |
| 133 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.88 |
| 134 | Pregnancy loss, recurrent 1 | Enrichment | CCNB3 | 1.86 |
| 135 | Wilms tumor 5 | Enrichment | CHEK2 | 1.80 |
| 136 | Adrenocortical carcinoma | Enrichment | TP53 | 1.80 |
| 137 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.80 |
| 138 | Breast adenocarcinoma | Enrichment | TP53 | 1.80 |
| 139 | Esophageal cancer | Enrichment | TP53 | 1.73 |
| 140 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.73 |
| 141 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.73 |
| 142 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.73 |
| 143 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.73 |
| 144 | Essential thrombocythemia | Enrichment | TP53 | 1.73 |
| 145 | Gallbladder cancer | Enrichment | TP53 | 1.73 |
| 146 | Moyamoya angiopathy | Enrichment | ABL1 | 1.73 |
| 147 | Glioma susceptibility 1 | Enrichment | TP53 | 1.68 |
| 148 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.68 |
| 149 | Rett syndrome, congenital variant | Enrichment | SMC1A | 1.68 |
| 150 | Coronary heart disease 5 | Enrichment | IKBKG | 1.63 |
| 151 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.63 |
| 152 | Primary hyperaldosteronism | Enrichment | TP53 | 1.63 |
| 153 | Aplastic anemia | Enrichment | NBN | 1.58 |
| 154 | Melanoma | Enrichment | CHEK2 | 1.58 |
| 155 | Familial colorectal cancer | Enrichment | TP53 | 1.58 |
| 156 | Immune deficiency disease | Enrichment | ATM | 1.54 |
| 157 | Leukemia, acute lymphoblastic | Enrichment | NBN | 1.54 |
| 158 | Myelodysplastic syndrome | Enrichment | TP53 | 1.54 |
| 159 | Premature menopause | Enrichment | NBN | 1.47 |
| 160 | Nk-cell enteropathy | Enrichment | CHEK2 | 1.47 |
| 161 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.44 |
| 162 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.44 |
| 163 | Heart disease | Enrichment | ABL1 | 1.44 |
| 164 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.41 |
| 165 | Wilms tumor 1 | Enrichment | CHEK2 | 1.41 |
| 166 | Lynch syndrome | Enrichment | CHEK2 | 1.41 |
| 167 | Polycystic liver disease | Enrichment | CDC25A | 1.35 |
| 168 | Autosomal dominant polycystic liver disease | Enrichment | CDC25A | 1.35 |
| 169 | Semilobar holoprosencephaly | Enrichment | SMC1A | 1.33 |
| 170 | Lissencephaly | Enrichment | NBN | 1.27 |
| 171 | Hepatoblastoma | Enrichment | TP53 | 1.27 |
| 172 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.23 |
| 173 | Malaria | Enrichment | IKBKG | 1.23 |
| 174 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.23 |
| 175 | Diamond-blackfan anemia | Enrichment | TP53 | 1.04 |
| 176 | Undetermined early-onset epileptic encephalopathy | Enrichment | AP3B2 | 0.86 |
| 177 | Congenital nervous system abnormality | Enrichment | SMC1A | 0.61 |
| 178 | Nervous system disease | Enrichment | SMC1A | 0.61 |
| 179 | Autism spectrum disorder | Enrichment | SMC3 | 0.50 |