| 1 | Li-fraumeni syndrome | Enrichment | CDKN2A, CHEK2, MDM2, TP53 | 8.61 |
| 2 | Hereditary breast carcinoma | Enrichment | AKT1, ATM, CHEK2, PPM1D, TP53 | 6.27 |
| 3 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1, CDKN2A, TP53 | 5.79 |
| 4 | Ovarian cancer | Enrichment | AKT1, ATM, CDKN2A, CHEK2, PPM1D, TP53 | 5.75 |
| 5 | Pancreatic cancer | Enrichment | ATM, CDKN2A, CHEK2, TP53 | 5.71 |
| 6 | Breast cancer | Enrichment | AKT1, ATM, CHEK2, PPM1D, TP53 | 5.10 |
| 7 | Lip and oral cavity carcinoma | Enrichment | ABL1, CDKN2A, TP53 | 4.99 |
| 8 | Li-fraumeni syndrome 1 | Enrichment | CHEK2, TP53 | 4.88 |
| 9 | Sarcoma | Enrichment | CHEK2, TP53 | 4.88 |
| 10 | Gastric cancer | Enrichment | ATM, CDKN2A, CHEK2, TP53 | 4.74 |
| 11 | Osteogenic sarcoma | Enrichment | CHEK2, TP53 | 4.40 |
| 12 | Adenocarcinoma | Enrichment | ATM, TP53 | 4.40 |
| 13 | Bone osteosarcoma | Enrichment | CHEK2, TP53 | 4.40 |
| 14 | Diamond-blackfan anemia 1 | Enrichment | RPL11, RPL5, TP53 | 4.10 |
| 15 | Bladder cancer | Enrichment | ATM, CDKN2A, TP53 | 3.79 |
| 16 | Prostate cancer | Enrichment | ATM, CHEK2, TP53 | 3.79 |
| 17 | Wilms tumor 5 | Enrichment | CHEK2, TRIM28 | 3.70 |
| 18 | Adrenocortical carcinoma | Enrichment | CDKN2A, TP53 | 3.70 |
| 19 | Breast adenocarcinoma | Enrichment | AKT1, TP53 | 3.70 |
| 20 | Colorectal cancer | Enrichment | AKT1, ATM, CHEK2, TP53 | 3.54 |
| 21 | Diamond-blackfan anemia | Enrichment | RPL11, RPL5, TP53 | 3.51 |
| 22 | Colonic benign neoplasm | Enrichment | ATM, CHEK2 | 3.33 |
| 23 | Lynch syndrome 1 | Enrichment | ATM, CHEK2 | 3.23 |
| 24 | Leukemia, chronic lymphocytic | Enrichment | ATM, TP53 | 3.23 |
| 25 | Melanoma | Enrichment | CDKN2A, CHEK2 | 3.23 |
| 26 | Uterine corpus cancer | Enrichment | ATM, CHEK2 | 3.14 |
| 27 | Familial colorectal cancer type x | Enrichment | ATM, CHEK2 | 3.14 |
| 28 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, CHEK2 | 2.99 |
| 29 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, CHEK2, TP53 | 2.97 |
| 30 | Complex neurodevelopmental disorder | Enrichment | FBXO11, HUWE1, KAT8, PPP2CA | 2.96 |
| 31 | Wilms tumor 1 | Enrichment | CHEK2, TRIM28 | 2.87 |
| 32 | Inherited cancer-predisposing syndrome | Enrichment | ATM, CDKN2A, CHEK2, TP53 | 2.86 |
| 33 | Gliosarcoma | Enrichment | ATM, TP53 | 2.81 |
| 34 | Giant cell glioblastoma | Enrichment | ATM, TP53 | 2.76 |
| 35 | Diffuse large b-cell lymphoma | Enrichment | CHEK2, TP53 | 2.66 |
| 36 | Endometrial cancer | Enrichment | ATM, CHEK2 | 2.57 |
| 37 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1, CDKN2A | 2.49 |
| 38 | Proteus syndrome | Enrichment | AKT1 | 2.43 |
| 39 | Seckel syndrome 1 | Enrichment | ATR | 2.43 |
| 40 | Accelerated tumor formation | Enrichment | MDM2 | 2.43 |
| 41 | Diamond-blackfan anemia 7 | Enrichment | RPL11 | 2.43 |
| 42 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.43 |
| 43 | Li-ghorbani-weisz-hubshman syndrome | Enrichment | KAT8 | 2.43 |
| 44 | Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development | Enrichment | PTPA | 2.43 |
| 45 | Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities | Enrichment | PPP1R13L | 2.43 |
| 46 | Trigonocephaly with short stature and developmental delay | Enrichment | HUWE1 | 2.43 |
| 47 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.43 |
| 48 | Bone marrow failure syndrome 6 | Enrichment | MDM4 | 2.43 |
| 49 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.43 |
| 50 | Papilloma of choroid plexus | Enrichment | TP53 | 2.43 |
| 51 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.43 |
| 52 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.43 |
| 53 | Intellectual developmental disorder, x-linked, syndromic, turner type | Enrichment | HUWE1 | 2.43 |
| 54 | Tumor predisposition syndrome 4 | Enrichment | CHEK2 | 2.43 |
| 55 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 2.43 |
| 56 | Cowden syndrome 6 | Enrichment | AKT1 | 2.43 |
| 57 | Syndromic x-linked intellectual disability turner type | Enrichment | HUWE1 | 2.43 |
| 58 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.43 |
| 59 | Ductal carcinoma in situ | Enrichment | TP53 | 2.43 |
| 60 | Jansen-de vries syndrome | Enrichment | PPM1D | 2.43 |
| 61 | Leiomyosarcoma | Enrichment | CHEK2 | 2.43 |
| 62 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.43 |
| 63 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.43 |
| 64 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.43 |
| 65 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.43 |
| 66 | Oocyte/zygote/embryo maturation arrest 21 | Enrichment | CHEK1 | 2.43 |
| 67 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.43 |
| 68 | Choroid plexus cancer | Enrichment | TP53 | 2.43 |
| 69 | Wilms tumor 7 | Enrichment | TRIM28 | 2.43 |
| 70 | Multiple congenital anomalies/dysmorphic syndrome | Enrichment | PPP1R13L | 2.43 |
| 71 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.43 |
| 72 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 2.43 |
| 73 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.13 |
| 74 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.13 |
| 75 | Autism x-linked 2 | Enrichment | HUWE1 | 2.13 |
| 76 | Cervical cancer | Enrichment | TP53 | 2.13 |
| 77 | Diamond-blackfan anemia 6 | Enrichment | RPL5 | 2.13 |
| 78 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.13 |
| 79 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.13 |
| 80 | Congenital heart defects, multiple types, 3 | Enrichment | CHEK2 | 2.13 |
| 81 | Gabriele-de vries syndrome | Enrichment | YY1 | 2.13 |
| 82 | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | Enrichment | KAT5 | 2.13 |
| 83 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.13 |
| 84 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.13 |
| 85 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.13 |
| 86 | Congenital fibrosarcoma | Enrichment | TP53 | 2.13 |
| 87 | High grade glioma | Enrichment | ATM | 2.13 |
| 88 | Developmental and epileptic encephalopathy 78 | Enrichment | YY1 | 2.13 |
| 89 | Cervix carcinoma | Enrichment | TP53 | 2.13 |
| 90 | Hodgkin's lymphoma | Enrichment | TP53 | 2.13 |
| 91 | Insulinoma | Enrichment | YY1 | 2.13 |
| 92 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.13 |
| 93 | Hao-fountain syndrome | Enrichment | USP7 | 2.13 |
| 94 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 2.13 |
| 95 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.13 |
| 96 | Ataxia-telangiectasia | Enrichment | ATM | 1.96 |
| 97 | Polycythemia vera | Enrichment | ATM | 1.96 |
| 98 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.96 |
| 99 | Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | Enrichment | TTC5 | 1.96 |
| 100 | Koolen-de vries syndrome | Enrichment | ATM | 1.96 |
| 101 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 1.96 |
| 102 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.96 |
| 103 | Anaplastic astrocytoma | Enrichment | TP53 | 1.96 |
| 104 | Squamous cell carcinoma | Enrichment | TP53 | 1.96 |
| 105 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.96 |
| 106 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | Enrichment | FBXO11 | 1.96 |
| 107 | Well-differentiated liposarcoma | Enrichment | MDM2 | 1.96 |
| 108 | Small cell cancer of the lung | Enrichment | TP53 | 1.83 |
| 109 | Pyruvate dehydrogenase e1-alpha deficiency | Enrichment | E4F1 | 1.83 |
| 110 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.83 |
| 111 | Mantle cell lymphoma | Enrichment | ATM | 1.83 |
| 112 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.83 |
| 113 | Orofacial cleft | Enrichment | PPP1R13L | 1.83 |
| 114 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 1.83 |
| 115 | Ciliary dyskinesia, primary, 22 | Enrichment | RASSF1 | 1.83 |
| 116 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.83 |
| 117 | Noonan syndrome with multiple lentigines | Enrichment | PPP1R13L | 1.83 |
| 118 | Hemoglobin c disease | Enrichment | CHEK2 | 1.83 |
| 119 | Orofacial clefting syndrome | Enrichment | PPP1R13L | 1.83 |
| 120 | Oculomotor apraxia | Enrichment | ATM | 1.83 |
| 121 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | CHEK1 | 1.83 |
| 122 | Myeloma, multiple | Enrichment | ATM, TP53 | 1.74 |
| 123 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.74 |
| 124 | Lymphoma | Enrichment | TP53 | 1.74 |
| 125 | Glioblastoma | Enrichment | ATM | 1.74 |
| 126 | Hemangioma | Enrichment | RPL5 | 1.74 |
| 127 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.74 |
| 128 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.66 |
| 129 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.66 |
| 130 | Esophageal cancer | Enrichment | TP53 | 1.59 |
| 131 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.59 |
| 132 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.59 |
| 133 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.59 |
| 134 | Essential thrombocythemia | Enrichment | TP53 | 1.59 |
| 135 | Gallbladder cancer | Enrichment | TP53 | 1.59 |
| 136 | Moyamoya angiopathy | Enrichment | ABL1 | 1.59 |
| 137 | Glioma susceptibility 1 | Enrichment | TP53 | 1.54 |
| 138 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.54 |
| 139 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.49 |
| 140 | Primary hyperaldosteronism | Enrichment | TP53 | 1.49 |
| 141 | Cowden syndrome | Enrichment | AKT1 | 1.49 |
| 142 | Aplastic anemia | Enrichment | RPL5 | 1.44 |
| 143 | Familial colorectal cancer | Enrichment | TP53 | 1.44 |
| 144 | Immune deficiency disease | Enrichment | ATM | 1.40 |
| 145 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.40 |
| 146 | Myelodysplastic syndrome | Enrichment | TP53 | 1.40 |
| 147 | Atrial heart septal defect | Enrichment | RPL5 | 1.40 |
| 148 | Interatrial communication | Enrichment | RPL5 | 1.40 |
| 149 | Meningioma | Enrichment | AKT1 | 1.36 |
| 150 | Pulmonary hypertension, primary, 1 | Enrichment | RPL5 | 1.33 |
| 151 | Protein-deficiency anemia | Enrichment | RPL11 | 1.33 |
| 152 | Nk-cell enteropathy | Enrichment | CHEK2 | 1.33 |
| 153 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.30 |
| 154 | Seckel syndrome | Enrichment | ATR | 1.30 |
| 155 | Heart disease | Enrichment | ABL1 | 1.30 |
| 156 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.27 |
| 157 | Lynch syndrome | Enrichment | CHEK2 | 1.27 |
| 158 | Rhabdomyosarcoma | Enrichment | TP53 | 1.24 |
| 159 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A | 1.22 |
| 160 | Hepatoblastoma | Enrichment | TP53 | 1.13 |
| 161 | Hepatocellular carcinoma | Enrichment | TP53 | 1.11 |
| 162 | Lung cancer | Enrichment | CHEK2 | 0.95 |
| 163 | Non-syndromic x-linked intellectual disability | Enrichment | HUWE1 | 0.90 |
| 164 | Leukemia, acute myeloid | Enrichment | TP53 | 0.86 |
| 165 | Body mass index quantitative trait locus 11 | Enrichment | FBXO11 | 0.77 |
| 166 | Autosomal dominant non-syndromic intellectual disability | Enrichment | PPM1D | 0.77 |
| 167 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | HUWE1 | 0.73 |
| 168 | Autosomal recessive non-syndromic intellectual disability | Enrichment | TTC5 | 0.71 |
| 169 | Primary ovarian insufficiency | Enrichment | CHEK2 | 0.71 |
| 170 | Dilated cardiomyopathy | Enrichment | PPP1R13L | 0.59 |
| 171 | Microcephaly | Enrichment | ABL1 | 0.44 |