| 1 | Gastric cancer | Enrichment | ATM, BARD1, BRCA1, CDK4, CHEK2, NBN, TP53 | 10.16 |
| 2 | Hereditary breast carcinoma | Enrichment | ATM, BARD1, BLM, BRCA1, CHEK2, NBN, TP53 | 10.09 |
| 3 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BARD1, BLM, BRCA1, CHEK2, NBN, TP53 | 9.37 |
| 4 | Ovarian cancer | Enrichment | ATM, BARD1, BLM, BRCA1, CHEK2, FANCD2, NBN, TP53 | 9.00 |
| 5 | Breast cancer | Enrichment | ATM, BARD1, BLM, BRCA1, CHEK2, NBN, TP53 | 8.41 |
| 6 | Endometrial cancer | Enrichment | ATM, BARD1, BLM, BRCA1, CHEK2 | 8.26 |
| 7 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BARD1, BLM, BRCA1, CDK4, CHEK2, NBN, TP53 | 8.07 |
| 8 | Pancreatic cancer | Enrichment | ATM, BRCA1, CHEK2, NBN, TP53 | 7.84 |
| 9 | Prostate cancer | Enrichment | ATM, BRCA1, CHEK2, NBN, TP53 | 7.50 |
| 10 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1, CHEK2, NBN | 7.17 |
| 11 | Colorectal cancer | Enrichment | ATM, BLM, BRCA1, CCND1, CHEK2, TP53 | 6.47 |
| 12 | Li-fraumeni syndrome | Enrichment | CHEK2, MDM2, TP53 | 6.20 |
| 13 | Bladder cancer | Enrichment | ATM, BRCA1, CDKN1A, TP53 | 5.67 |
| 14 | Leukemia, chronic lymphocytic | Enrichment | ATM, CCND1, TP53 | 5.42 |
| 15 | Uterine corpus cancer | Enrichment | ATM, BRCA1, CHEK2 | 5.29 |
| 16 | Li-fraumeni syndrome 1 | Enrichment | CHEK2, TP53 | 4.99 |
| 17 | Sarcoma | Enrichment | CHEK2, TP53 | 4.99 |
| 18 | Gliosarcoma | Enrichment | ATM, NFKBIA, TP53 | 4.76 |
| 19 | Giant cell glioblastoma | Enrichment | ATM, NFKBIA, TP53 | 4.68 |
| 20 | Diffuse large b-cell lymphoma | Enrichment | CHEK2, NBN, TP53 | 4.53 |
| 21 | Osteogenic sarcoma | Enrichment | CHEK2, TP53 | 4.51 |
| 22 | Nasopharyngeal carcinoma | Enrichment | NFKBIA, TP53 | 4.51 |
| 23 | Dedifferentiated liposarcoma | Enrichment | CDK4, MDM2 | 4.51 |
| 24 | Adenocarcinoma | Enrichment | ATM, TP53 | 4.51 |
| 25 | Bone osteosarcoma | Enrichment | CHEK2, TP53 | 4.51 |
| 26 | Well-differentiated liposarcoma | Enrichment | CDK4, MDM2 | 4.51 |
| 27 | Myeloma, multiple | Enrichment | ATM, BARD1, CCND1, TP53 | 4.50 |
| 28 | Mantle cell lymphoma | Enrichment | ATM, CCND1 | 4.21 |
| 29 | Von hippel-lindau syndrome | Enrichment | CCND1, FANCD2 | 3.99 |
| 30 | Fanconi anemia, complementation group a | Enrichment | BRCA1, FANCD2, FANCL | 3.71 |
| 31 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 3.67 |
| 32 | Colonic benign neoplasm | Enrichment | ATM, CHEK2 | 3.44 |
| 33 | Lynch syndrome 1 | Enrichment | ATM, CHEK2 | 3.34 |
| 34 | Familial colorectal cancer type x | Enrichment | ATM, CHEK2 | 3.26 |
| 35 | Seckel syndrome | Enrichment | ATR, ATRIP | 3.04 |
| 36 | Rhabdomyosarcoma | Enrichment | BRCA1, TP53 | 2.92 |
| 37 | Hepatoblastoma | Enrichment | BARD1, TP53 | 2.68 |
| 38 | Hepatocellular carcinoma | Enrichment | NBN, TP53 | 2.64 |
| 39 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.49 |
| 40 | Bloom syndrome | Enrichment | BLM | 2.49 |
| 41 | Developmental and epileptic encephalopathy 85 with or without midline brain defects | Enrichment | SMC1A | 2.49 |
| 42 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.49 |
| 43 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 2.49 |
| 44 | Seckel syndrome 1 | Enrichment | ATR | 2.49 |
| 45 | Accelerated tumor formation | Enrichment | MDM2 | 2.49 |
| 46 | Immunodeficiency 92 | Enrichment | REL | 2.49 |
| 47 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.49 |
| 48 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.49 |
| 49 | Papilloma of choroid plexus | Enrichment | TP53 | 2.49 |
| 50 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.49 |
| 51 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.49 |
| 52 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.49 |
| 53 | Tumor predisposition syndrome 4 | Enrichment | CHEK2 | 2.49 |
| 54 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 2.49 |
| 55 | Ataxia-telangiectasia-like disorder 2 | Enrichment | PCNA | 2.49 |
| 56 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.49 |
| 57 | Ductal carcinoma in situ | Enrichment | TP53 | 2.49 |
| 58 | Fanconi anemia, complementation group l | Enrichment | FANCL | 2.49 |
| 59 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.49 |
| 60 | Immunodeficiency 53 | Enrichment | RELB | 2.49 |
| 61 | Leiomyosarcoma | Enrichment | CHEK2 | 2.49 |
| 62 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.49 |
| 63 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.49 |
| 64 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.49 |
| 65 | Oocyte/zygote/embryo maturation arrest 21 | Enrichment | CHEK1 | 2.49 |
| 66 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.49 |
| 67 | Choroid plexus cancer | Enrichment | TP53 | 2.49 |
| 68 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.49 |
| 69 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 2.49 |
| 70 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.49 |
| 71 | Lung cancer | Enrichment | BRCA1, CHEK2 | 2.32 |
| 72 | Burkitt lymphoma | Enrichment | MYC | 2.19 |
| 73 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.19 |
| 74 | Cervical cancer | Enrichment | TP53 | 2.19 |
| 75 | Cornelia de lange syndrome 2 | Enrichment | SMC1A | 2.19 |
| 76 | Vacterl association, x-linked, with or without hydrocephalus | Enrichment | FANCL | 2.19 |
| 77 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.19 |
| 78 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.19 |
| 79 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.19 |
| 80 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 2.19 |
| 81 | Congenital heart defects, multiple types, 3 | Enrichment | CHEK2 | 2.19 |
| 82 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.19 |
| 83 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.19 |
| 84 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.19 |
| 85 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.19 |
| 86 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.19 |
| 87 | Congenital fibrosarcoma | Enrichment | TP53 | 2.19 |
| 88 | High grade glioma | Enrichment | ATM | 2.19 |
| 89 | Ectodermal dysplasia and immune deficiency | Enrichment | NFKBIA | 2.19 |
| 90 | Cervix carcinoma | Enrichment | TP53 | 2.19 |
| 91 | Hodgkin's lymphoma | Enrichment | TP53 | 2.19 |
| 92 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.19 |
| 93 | Inflammatory breast carcinoma | Enrichment | BRCA1 | 2.19 |
| 94 | Peritoneum cancer | Enrichment | BRCA1 | 2.19 |
| 95 | Bilateral breast cancer | Enrichment | BRCA1 | 2.19 |
| 96 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.19 |
| 97 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.19 |
| 98 | Submucosal cleft palate | Enrichment | UBB | 2.19 |
| 99 | Cleft hard palate | Enrichment | UBB | 2.19 |
| 100 | Leukemia, acute myeloid | Enrichment | FANCD2, TP53 | 2.13 |
| 101 | Ataxia-telangiectasia | Enrichment | ATM | 2.01 |
| 102 | Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations | Enrichment | ATRIP | 2.01 |
| 103 | Nijmegen breakage syndrome | Enrichment | NBN | 2.01 |
| 104 | Polycythemia vera | Enrichment | ATM | 2.01 |
| 105 | Uvula, bifid | Enrichment | UBB | 2.01 |
| 106 | Chilblain lupus 1 | Enrichment | ATRIP | 2.01 |
| 107 | Cleft soft palate | Enrichment | UBB | 2.01 |
| 108 | Koolen-de vries syndrome | Enrichment | ATM | 2.01 |
| 109 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 2.01 |
| 110 | Chilblain lupus | Enrichment | ATRIP | 2.01 |
| 111 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.01 |
| 112 | Anaplastic astrocytoma | Enrichment | TP53 | 2.01 |
| 113 | Squamous cell carcinoma | Enrichment | TP53 | 2.01 |
| 114 | Small cell cancer of the lung | Enrichment | TP53 | 1.89 |
| 115 | Erythrocytosis, familial, 2 | Enrichment | FANCD2 | 1.89 |
| 116 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.89 |
| 117 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1 | 1.89 |
| 118 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | CCND2 | 1.89 |
| 119 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.89 |
| 120 | Cholangiocarcinoma | Enrichment | BRCA1 | 1.89 |
| 121 | Aicardi-goutieres syndrome 1 | Enrichment | ATRIP | 1.89 |
| 122 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.89 |
| 123 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.89 |
| 124 | Hemoglobin c disease | Enrichment | CHEK2 | 1.89 |
| 125 | Vacterl association | Enrichment | FANCL | 1.89 |
| 126 | Thrombotic microangiopathy | Enrichment | ATRIP | 1.89 |
| 127 | Oculomotor apraxia | Enrichment | ATM | 1.89 |
| 128 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | CHEK1 | 1.89 |
| 129 | Primary ovarian insufficiency | Enrichment | CHEK2, NBN | 1.81 |
| 130 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Enrichment | ATRIP | 1.79 |
| 131 | Fanconi anemia, complementation group d2 | Enrichment | FANCD2 | 1.79 |
| 132 | Vater/vacterl association | Enrichment | FANCL | 1.79 |
| 133 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.79 |
| 134 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1 | 1.79 |
| 135 | Lymphoma | Enrichment | TP53 | 1.79 |
| 136 | Glioblastoma | Enrichment | ATM | 1.79 |
| 137 | Vascular dementia | Enrichment | ATRIP | 1.79 |
| 138 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.79 |
| 139 | Wilms tumor 5 | Enrichment | CHEK2 | 1.71 |
| 140 | Wiedemann-steiner syndrome | Enrichment | SMC1A | 1.71 |
| 141 | Adrenocortical carcinoma | Enrichment | TP53 | 1.71 |
| 142 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.71 |
| 143 | Breast adenocarcinoma | Enrichment | TP53 | 1.71 |
| 144 | Esophageal cancer | Enrichment | TP53 | 1.65 |
| 145 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.65 |
| 146 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.65 |
| 147 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.65 |
| 148 | Essential thrombocythemia | Enrichment | TP53 | 1.65 |
| 149 | Gallbladder cancer | Enrichment | TP53 | 1.65 |
| 150 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.65 |
| 151 | Glioma susceptibility 1 | Enrichment | TP53 | 1.59 |
| 152 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.59 |
| 153 | Rett syndrome, congenital variant | Enrichment | SMC1A | 1.59 |
| 154 | Cornelia de lange syndrome 1 | Enrichment | SMC1A | 1.54 |
| 155 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.54 |
| 156 | Primary hyperaldosteronism | Enrichment | TP53 | 1.54 |
| 157 | Cornelia de lange syndrome | Enrichment | SMC1A | 1.54 |
| 158 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.50 |
| 159 | Aplastic anemia | Enrichment | NBN | 1.50 |
| 160 | Aicardi-goutieres syndrome | Enrichment | ATRIP | 1.50 |
| 161 | Melanoma | Enrichment | CHEK2 | 1.50 |
| 162 | Familial colorectal cancer | Enrichment | TP53 | 1.50 |
| 163 | Immune deficiency disease | Enrichment | ATM | 1.45 |
| 164 | Leukemia, acute lymphoblastic | Enrichment | NBN | 1.45 |
| 165 | Myelodysplastic syndrome | Enrichment | TP53 | 1.45 |
| 166 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.42 |
| 167 | Neural tube defects | Enrichment | RAD9B | 1.38 |
| 168 | Premature menopause | Enrichment | NBN | 1.38 |
| 169 | Nk-cell enteropathy | Enrichment | CHEK2 | 1.38 |
| 170 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.35 |
| 171 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.35 |
| 172 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.32 |
| 173 | Wilms tumor 1 | Enrichment | CHEK2 | 1.32 |
| 174 | Lynch syndrome | Enrichment | CHEK2 | 1.32 |
| 175 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4 | 1.27 |
| 176 | Polycystic liver disease | Enrichment | CDC25A | 1.27 |
| 177 | Autosomal dominant polycystic liver disease | Enrichment | CDC25A | 1.27 |
| 178 | Semilobar holoprosencephaly | Enrichment | SMC1A | 1.25 |
| 179 | Microcephaly | Enrichment | NBN, SMC1A | 1.22 |
| 180 | Lissencephaly | Enrichment | NBN | 1.18 |
| 181 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.14 |
| 182 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 1.14 |
| 183 | Diamond-blackfan anemia | Enrichment | TP53 | 0.96 |
| 184 | Systemic lupus erythematosus | Enrichment | ATRIP | 0.92 |
| 185 | Congenital nervous system abnormality | Enrichment | SMC1A | 0.53 |
| 186 | Nervous system disease | Enrichment | SMC1A | 0.53 |
| 187 | Hereditary retinal dystrophy | Enrichment | ATRIP | 0.21 |
| 188 | Fundus dystrophy | Enrichment | ATRIP | 0.21 |