| 1 | Li-fraumeni syndrome | Enrichment | CDKN2A, MDM2, TP53 | 7.41 |
| 2 | Bladder cancer | Enrichment | ATM, CDKN1A, CDKN2A, TP53 | 7.30 |
| 3 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1, CDKN2A, TP53 | 7.16 |
| 4 | Lip and oral cavity carcinoma | Enrichment | ABL1, CDKN2A, TP53 | 6.37 |
| 5 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1, CDKN2A, MYC | 5.47 |
| 6 | Pancreatic cancer | Enrichment | ATM, CDKN2A, TP53 | 5.35 |
| 7 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2, MYC | 5.30 |
| 8 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1, BAX | 5.30 |
| 9 | Adenocarcinoma | Enrichment | ATM, TP53 | 5.30 |
| 10 | Small cell cancer of the lung | Enrichment | TP53, TP73 | 5.00 |
| 11 | Gastric cancer | Enrichment | ATM, CDKN2A, TP53 | 4.63 |
| 12 | Adrenocortical carcinoma | Enrichment | CDKN2A, TP53 | 4.60 |
| 13 | Leukemia, chronic lymphocytic | Enrichment | ATM, TP53 | 4.13 |
| 14 | Colorectal cancer | Enrichment | ATM, BAX, TP53 | 3.71 |
| 15 | Gliosarcoma | Enrichment | ATM, TP53 | 3.70 |
| 16 | Giant cell glioblastoma | Enrichment | ATM, TP53 | 3.65 |
| 17 | Ovarian cancer | Enrichment | ATM, CDKN2A, TP53 | 3.52 |
| 18 | Inherited cancer-predisposing syndrome | Enrichment | ATM, CDKN2A, TP53 | 3.18 |
| 19 | Prostate cancer | Enrichment | ATM, TP53 | 3.18 |
| 20 | Rapp-hodgkin syndrome | Enrichment | TP63 | 2.88 |
| 21 | Ankyloblepharon-ectodermal defects-cleft lip/palate | Enrichment | TP63 | 2.88 |
| 22 | Split-hand/foot malformation 4 | Enrichment | TP63 | 2.88 |
| 23 | Ankyloblepharon filiforme adnatum and cleft palate | Enrichment | TP63 | 2.88 |
| 24 | Adult syndrome | Enrichment | TP63 | 2.88 |
| 25 | Accelerated tumor formation | Enrichment | MDM2 | 2.88 |
| 26 | Ciliary dyskinesia, primary, 47, and lissencephaly | Enrichment | TP73 | 2.88 |
| 27 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.88 |
| 28 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.88 |
| 29 | Papilloma of choroid plexus | Enrichment | TP53 | 2.88 |
| 30 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.88 |
| 31 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.88 |
| 32 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | Enrichment | TP63 | 2.88 |
| 33 | Microphthalmia, syndromic 5 | Enrichment | OTX2 | 2.88 |
| 34 | Limb-mammary syndrome | Enrichment | TP63 | 2.88 |
| 35 | Premature ovarian failure 21 | Enrichment | TP63 | 2.88 |
| 36 | Pituitary hormone deficiency, combined, 6 | Enrichment | OTX2 | 2.88 |
| 37 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.88 |
| 38 | Ductal carcinoma in situ | Enrichment | TP53 | 2.88 |
| 39 | Orofacial cleft 8 | Enrichment | TP63 | 2.88 |
| 40 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.88 |
| 41 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.88 |
| 42 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.88 |
| 43 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.88 |
| 44 | Tp63-related disorders | Enrichment | TP63 | 2.88 |
| 45 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.88 |
| 46 | Choroid plexus cancer | Enrichment | TP53 | 2.88 |
| 47 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.88 |
| 48 | Hereditary breast carcinoma | Enrichment | ATM, TP53 | 2.82 |
| 49 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, TP53 | 2.63 |
| 50 | Myeloma, multiple | Enrichment | ATM, TP53 | 2.61 |
| 51 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.58 |
| 52 | Burkitt lymphoma | Enrichment | MYC | 2.58 |
| 53 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 | Enrichment | TP63 | 2.58 |
| 54 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.58 |
| 55 | Agnathia-otocephaly complex | Enrichment | OTX2 | 2.58 |
| 56 | Cervical cancer | Enrichment | TP53 | 2.58 |
| 57 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.58 |
| 58 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.58 |
| 59 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.58 |
| 60 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.58 |
| 61 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.58 |
| 62 | Bladder exstrophy | Enrichment | TP63 | 2.58 |
| 63 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.58 |
| 64 | Congenital fibrosarcoma | Enrichment | TP53 | 2.58 |
| 65 | High grade glioma | Enrichment | ATM | 2.58 |
| 66 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.58 |
| 67 | Sarcoma | Enrichment | TP53 | 2.58 |
| 68 | Cervix carcinoma | Enrichment | TP53 | 2.58 |
| 69 | Hodgkin's lymphoma | Enrichment | TP53 | 2.58 |
| 70 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.58 |
| 71 | Fissured tongue | Enrichment | TP63 | 2.58 |
| 72 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.58 |
| 73 | Ataxia-telangiectasia | Enrichment | ATM | 2.40 |
| 74 | Polycythemia vera | Enrichment | ATM | 2.40 |
| 75 | Osteogenic sarcoma | Enrichment | TP53 | 2.40 |
| 76 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.40 |
| 77 | Koolen-de vries syndrome | Enrichment | ATM | 2.40 |
| 78 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 2.40 |
| 79 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.40 |
| 80 | Anaplastic astrocytoma | Enrichment | TP53 | 2.40 |
| 81 | Squamous cell carcinoma | Enrichment | TP53 | 2.40 |
| 82 | Bone osteosarcoma | Enrichment | TP53 | 2.40 |
| 83 | Butterfly-shaped pigment dystrophy | Enrichment | OTX2 | 2.40 |
| 84 | Respiratory failure | Enrichment | TP73 | 2.40 |
| 85 | Well-differentiated liposarcoma | Enrichment | MDM2 | 2.40 |
| 86 | Breast cancer | Enrichment | ATM, TP53 | 2.36 |
| 87 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 2.28 |
| 88 | Mantle cell lymphoma | Enrichment | ATM | 2.28 |
| 89 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 2.28 |
| 90 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 2.28 |
| 91 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 2.28 |
| 92 | Cleft lip and alveolus | Enrichment | TP63 | 2.28 |
| 93 | Oculomotor apraxia | Enrichment | ATM | 2.28 |
| 94 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 2.18 |
| 95 | Follicular lymphoma | Enrichment | BCL2 | 2.18 |
| 96 | Lymphoma | Enrichment | TP53 | 2.18 |
| 97 | Glioblastoma | Enrichment | ATM | 2.18 |
| 98 | Acute megakaryocytic leukemia | Enrichment | TP53 | 2.18 |
| 99 | Cleft upper lip | Enrichment | TP63 | 2.18 |
| 100 | Anxiety | Enrichment | OTX2 | 2.10 |
| 101 | Clear cell renal cell carcinoma | Enrichment | ATM | 2.10 |
| 102 | Breast adenocarcinoma | Enrichment | TP53 | 2.10 |
| 103 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 2.10 |
| 104 | Esophageal cancer | Enrichment | TP53 | 2.03 |
| 105 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 2.03 |
| 106 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 2.03 |
| 107 | Leukemia, chronic myeloid | Enrichment | ABL1 | 2.03 |
| 108 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 2.03 |
| 109 | Essential thrombocythemia | Enrichment | TP53 | 2.03 |
| 110 | Gallbladder cancer | Enrichment | TP53 | 2.03 |
| 111 | Moyamoya angiopathy | Enrichment | ABL1 | 2.03 |
| 112 | Glioma susceptibility 1 | Enrichment | TP53 | 1.98 |
| 113 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.98 |
| 114 | Isolated split hand-split foot malformation | Enrichment | TP63 | 1.98 |
| 115 | Combined pituitary hormone deficiency | Enrichment | OTX2 | 1.98 |
| 116 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.93 |
| 117 | Primary hyperaldosteronism | Enrichment | TP53 | 1.93 |
| 118 | Colonic benign neoplasm | Enrichment | ATM | 1.93 |
| 119 | Lynch syndrome 1 | Enrichment | ATM | 1.88 |
| 120 | Melanoma | Enrichment | CDKN2A | 1.88 |
| 121 | Familial colorectal cancer | Enrichment | TP53 | 1.88 |
| 122 | Immune deficiency disease | Enrichment | ATM | 1.84 |
| 123 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.84 |
| 124 | Myelodysplastic syndrome | Enrichment | TP53 | 1.84 |
| 125 | Nanophthalmos | Enrichment | OTX2 | 1.84 |
| 126 | Uterine corpus cancer | Enrichment | ATM | 1.84 |
| 127 | Familial colorectal cancer type x | Enrichment | ATM | 1.84 |
| 128 | Septooptic dysplasia | Enrichment | OTX2 | 1.80 |
| 129 | Breast-ovarian cancer, familial 1 | Enrichment | ATM | 1.77 |
| 130 | Premature menopause | Enrichment | TP63 | 1.77 |
| 131 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.73 |
| 132 | Heart disease | Enrichment | ABL1 | 1.73 |
| 133 | Cleft lip/palate | Enrichment | TP63 | 1.73 |
| 134 | 46,xy partial gonadal dysgenesis | Enrichment | OTX2 | 1.73 |
| 135 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.70 |
| 136 | Male infertility with spermatogenesis disorder | Enrichment | TP63 | 1.70 |
| 137 | Rhabdomyosarcoma | Enrichment | TP53 | 1.68 |
| 138 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A | 1.65 |
| 139 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.60 |
| 140 | Macs syndrome | Enrichment | OTX2 | 1.58 |
| 141 | Endometrial cancer | Enrichment | ATM | 1.56 |
| 142 | Hepatoblastoma | Enrichment | TP53 | 1.56 |
| 143 | Hepatocellular carcinoma | Enrichment | TP53 | 1.54 |
| 144 | Microphthalmia | Enrichment | OTX2 | 1.54 |
| 145 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.52 |
| 146 | Diamond-blackfan anemia | Enrichment | TP53 | 1.33 |
| 147 | Leukemia, acute myeloid | Enrichment | TP53 | 1.29 |
| 148 | Primary ovarian insufficiency | Enrichment | TP63 | 1.12 |
| 149 | Leber plus disease | Enrichment | OTX2 | 0.92 |
| 150 | Microcephaly | Enrichment | ABL1 | 0.82 |