| 1 | Li-fraumeni syndrome | Enrichment | CDKN2A, CHEK2, MDM2, TP53 | 9.23 |
| 2 | Pancreatic cancer | Enrichment | ATM, CDKN2A, CHEK2, TP53 | 6.34 |
| 3 | Gastric cancer | Enrichment | ATM, CDKN2A, CHEK2, TP53 | 5.37 |
| 4 | Hereditary breast carcinoma | Enrichment | AKT1, ATM, CHEK2, TP53 | 5.33 |
| 5 | Ovarian cancer | Enrichment | AKT1, ATM, CDKN2A, CHEK2, TP53 | 5.25 |
| 6 | Li-fraumeni syndrome 1 | Enrichment | CHEK2, TP53 | 5.19 |
| 7 | Sarcoma | Enrichment | CHEK2, TP53 | 5.19 |
| 8 | Osteogenic sarcoma | Enrichment | CHEK2, TP53 | 4.71 |
| 9 | Adenocarcinoma | Enrichment | ATM, TP53 | 4.71 |
| 10 | Bone osteosarcoma | Enrichment | CHEK2, TP53 | 4.71 |
| 11 | Breast cancer | Enrichment | AKT1, ATM, CHEK2, TP53 | 4.40 |
| 12 | Bladder cancer | Enrichment | ATM, CDKN2A, TP53 | 4.26 |
| 13 | Prostate cancer | Enrichment | ATM, CHEK2, TP53 | 4.26 |
| 14 | Hemimegalencephaly | Enrichment | AKT3, MTOR | 4.19 |
| 15 | Colorectal cancer | Enrichment | AKT1, ATM, CHEK2, TP53 | 4.15 |
| 16 | Adrenocortical carcinoma | Enrichment | CDKN2A, TP53 | 4.02 |
| 17 | Breast adenocarcinoma | Enrichment | AKT1, TP53 | 4.02 |
| 18 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM, MTOR | 3.87 |
| 19 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A, TP53 | 3.87 |
| 20 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 3.83 |
| 21 | Papilloma of choroid plexus | Enrichment | TP53 | 3.83 |
| 22 | Basal cell carcinoma 7 | Enrichment | TP53 | 3.83 |
| 23 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 3.83 |
| 24 | Ductal carcinoma in situ | Enrichment | TP53 | 3.83 |
| 25 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 3.83 |
| 26 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 3.83 |
| 27 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 3.83 |
| 28 | Choroid plexus cancer | Enrichment | TP53 | 3.83 |
| 29 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 3.83 |
| 30 | Colonic benign neoplasm | Enrichment | ATM, CHEK2 | 3.64 |
| 31 | Lynch syndrome 1 | Enrichment | ATM, CHEK2 | 3.54 |
| 32 | Leukemia, chronic lymphocytic | Enrichment | ATM, TP53 | 3.54 |
| 33 | Melanoma | Enrichment | CDKN2A, CHEK2 | 3.54 |
| 34 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 3.53 |
| 35 | Cervical cancer | Enrichment | TP53 | 3.53 |
| 36 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 3.53 |
| 37 | Congenital fibrosarcoma | Enrichment | TP53 | 3.53 |
| 38 | Cervix carcinoma | Enrichment | TP53 | 3.53 |
| 39 | Hodgkin's lymphoma | Enrichment | TP53 | 3.53 |
| 40 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 3.53 |
| 41 | Uterine corpus cancer | Enrichment | ATM, CHEK2 | 3.46 |
| 42 | Familial colorectal cancer type x | Enrichment | ATM, CHEK2 | 3.46 |
| 43 | Inherited cancer-predisposing syndrome | Enrichment | ATM, CDKN2A, CHEK2, TP53 | 3.45 |
| 44 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, CHEK2, TP53 | 3.42 |
| 45 | Myeloma, multiple | Enrichment | ATM, SGK1, TP53 | 3.40 |
| 46 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, TP53 | 3.38 |
| 47 | Nasopharyngeal carcinoma | Enrichment | TP53 | 3.35 |
| 48 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 3.35 |
| 49 | Anaplastic astrocytoma | Enrichment | TP53 | 3.35 |
| 50 | Squamous cell carcinoma | Enrichment | TP53 | 3.35 |
| 51 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, CHEK2 | 3.30 |
| 52 | Small cell cancer of the lung | Enrichment | TP53 | 3.23 |
| 53 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 3.23 |
| 54 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 3.23 |
| 55 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 3.23 |
| 56 | Renal cell carcinoma, nonpapillary | Enrichment | ATM, MTOR | 3.18 |
| 57 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 3.13 |
| 58 | Lymphoma | Enrichment | TP53 | 3.13 |
| 59 | Acute megakaryocytic leukemia | Enrichment | TP53 | 3.13 |
| 60 | Gliosarcoma | Enrichment | ATM, TP53 | 3.12 |
| 61 | Giant cell glioblastoma | Enrichment | ATM, TP53 | 3.07 |
| 62 | Esophageal cancer | Enrichment | TP53 | 2.99 |
| 63 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 2.99 |
| 64 | Essential thrombocythemia | Enrichment | TP53 | 2.99 |
| 65 | Gallbladder cancer | Enrichment | TP53 | 2.99 |
| 66 | Diffuse large b-cell lymphoma | Enrichment | CHEK2, TP53 | 2.97 |
| 67 | Glioma susceptibility 1 | Enrichment | TP53 | 2.93 |
| 68 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 2.93 |
| 69 | Endometrial cancer | Enrichment | ATM, CHEK2 | 2.88 |
| 70 | Adult hepatocellular carcinoma | Enrichment | TP53 | 2.88 |
| 71 | Primary hyperaldosteronism | Enrichment | TP53 | 2.88 |
| 72 | Familial colorectal cancer | Enrichment | TP53 | 2.83 |
| 73 | Myelodysplastic syndrome | Enrichment | TP53 | 2.79 |
| 74 | Lung cancer susceptibility 3 | Enrichment | TP53 | 2.69 |
| 75 | Rhabdomyosarcoma | Enrichment | TP53 | 2.63 |
| 76 | Proteus syndrome | Enrichment | AKT1 | 2.59 |
| 77 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.59 |
| 78 | Accelerated tumor formation | Enrichment | MDM2 | 2.59 |
| 79 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.59 |
| 80 | Bone marrow failure syndrome 6 | Enrichment | MDM4 | 2.59 |
| 81 | Houge-janssens syndrome 4 | Enrichment | PPP2R5C | 2.59 |
| 82 | Houge-janssens syndrome 2 | Enrichment | PPP2R1A | 2.59 |
| 83 | Tumor predisposition syndrome 4 | Enrichment | CHEK2 | 2.59 |
| 84 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.59 |
| 85 | Cowden syndrome 6 | Enrichment | AKT1 | 2.59 |
| 86 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.59 |
| 87 | Leiomyosarcoma | Enrichment | CHEK2 | 2.59 |
| 88 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.59 |
| 89 | Capillary hemangioma | Enrichment | AKT3 | 2.59 |
| 90 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.59 |
| 91 | Ppp2r1a-related neurodevelopmental disorder | Enrichment | PPP2R1A | 2.59 |
| 92 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.59 |
| 93 | Lung cancer | Enrichment | CHEK2, PPP2R1B | 2.51 |
| 94 | Hepatoblastoma | Enrichment | TP53 | 2.51 |
| 95 | Hepatocellular carcinoma | Enrichment | TP53 | 2.49 |
| 96 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 2.47 |
| 97 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.29 |
| 98 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.29 |
| 99 | Congenital heart defects, multiple types, 3 | Enrichment | CHEK2 | 2.29 |
| 100 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.29 |
| 101 | Cebalid syndrome | Enrichment | MTOR | 2.29 |
| 102 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.29 |
| 103 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.29 |
| 104 | High grade glioma | Enrichment | ATM | 2.29 |
| 105 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.29 |
| 106 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.29 |
| 107 | Hao-fountain syndrome | Enrichment | USP7 | 2.29 |
| 108 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.29 |
| 109 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 2.29 |
| 110 | Submucosal cleft palate | Enrichment | UBB | 2.29 |
| 111 | Cleft hard palate | Enrichment | UBB | 2.29 |
| 112 | Diamond-blackfan anemia | Enrichment | TP53 | 2.28 |
| 113 | Leukemia, acute myeloid | Enrichment | TP53 | 2.23 |
| 114 | Ataxia-telangiectasia | Enrichment | ATM | 2.11 |
| 115 | Polycythemia vera | Enrichment | ATM | 2.11 |
| 116 | Uvula, bifid | Enrichment | UBB | 2.11 |
| 117 | Cleft soft palate | Enrichment | UBB | 2.11 |
| 118 | Koolen-de vries syndrome | Enrichment | ATM | 2.11 |
| 119 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 2.11 |
| 120 | Well-differentiated liposarcoma | Enrichment | MDM2 | 2.11 |
| 121 | Primary ovarian insufficiency | Enrichment | CHEK2, RICTOR | 2.00 |
| 122 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3 | 1.99 |
| 123 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 1.99 |
| 124 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.99 |
| 125 | Mantle cell lymphoma | Enrichment | ATM | 1.99 |
| 126 | Hemoglobin c disease | Enrichment | CHEK2 | 1.99 |
| 127 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.99 |
| 128 | Oculomotor apraxia | Enrichment | ATM | 1.99 |
| 129 | Glioblastoma | Enrichment | ATM | 1.89 |
| 130 | Wilms tumor 5 | Enrichment | CHEK2 | 1.81 |
| 131 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.81 |
| 132 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.81 |
| 133 | Megacolon | Enrichment | AKT3 | 1.75 |
| 134 | Overgrowth syndrome | Enrichment | MTOR | 1.75 |
| 135 | Cowden syndrome | Enrichment | AKT1 | 1.64 |
| 136 | Polymicrogyria | Enrichment | AKT3 | 1.59 |
| 137 | Immune deficiency disease | Enrichment | ATM | 1.55 |
| 138 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.55 |
| 139 | Meningioma | Enrichment | AKT1 | 1.52 |
| 140 | Nk-cell enteropathy | Enrichment | CHEK2 | 1.48 |
| 141 | Wilms tumor 1 | Enrichment | CHEK2 | 1.42 |
| 142 | Lynch syndrome | Enrichment | CHEK2 | 1.42 |
| 143 | Rare genetic intellectual disability | Enrichment | MTOR | 1.42 |
| 144 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A | 1.37 |
| 145 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A | 1.24 |
| 146 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.99 |
| 147 | Complex neurodevelopmental disorder | Enrichment | PPP2CA | 0.56 |