| 1 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B, CDKN2B, CDKN2C | 8.51 |
| 2 | Bladder cancer | Enrichment | ATM, CDKN1A, CDKN2A, RB1, TP53 | 7.55 |
| 3 | Inherited cancer-predisposing syndrome | Enrichment | ATM, CDK4, CDKN1B, CDKN2A, RB1, TP53 | 5.46 |
| 4 | Leukemia, chronic lymphocytic | Enrichment | ATM, CCND1, TP53 | 5.46 |
| 5 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, RB1, TP53 | 5.19 |
| 6 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 5.01 |
| 7 | Gastric cancer | Enrichment | ATM, CDK4, CDKN2A, TP53 | 5.01 |
| 8 | Ovarian cancer | Enrichment | ATM, CDKN1B, CDKN2A, RB1, TP53 | 4.80 |
| 9 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4, CDKN2A, CDKN2B | 4.71 |
| 10 | Myeloma, multiple | Enrichment | ATM, CCND1, CDKN2C, TP53 | 4.54 |
| 11 | Osteogenic sarcoma | Enrichment | RB1, TP53 | 4.53 |
| 12 | Squamous cell carcinoma | Enrichment | RB1, TP53 | 4.53 |
| 13 | Adenocarcinoma | Enrichment | ATM, TP53 | 4.53 |
| 14 | Bone osteosarcoma | Enrichment | RB1, TP53 | 4.53 |
| 15 | Small cell cancer of the lung | Enrichment | RB1, TP53 | 4.23 |
| 16 | Mantle cell lymphoma | Enrichment | ATM, CCND1 | 4.23 |
| 17 | Pancreatic cancer | Enrichment | ATM, CDKN2A, TP53 | 4.19 |
| 18 | Li-fraumeni syndrome | Enrichment | CDKN2A, TP53 | 3.84 |
| 19 | Adrenocortical carcinoma | Enrichment | CDKN2A, TP53 | 3.84 |
| 20 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A, TP53 | 3.69 |
| 21 | Loeys-dietz syndrome | Enrichment | TGFB2, TGFB3 | 3.46 |
| 22 | Lung cancer susceptibility 3 | Enrichment | RB1, TP53 | 3.06 |
| 23 | Gliosarcoma | Enrichment | ATM, TP53 | 2.94 |
| 24 | Giant cell glioblastoma | Enrichment | ATM, TP53 | 2.89 |
| 25 | Breast cancer | Enrichment | ATM, CDKN2B, TP53 | 2.77 |
| 26 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.63 |
| 27 | Spinocerebellar ataxia 12 | Enrichment | PPP2R2B | 2.63 |
| 28 | Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development | Enrichment | PTPA | 2.63 |
| 29 | Houge-janssens syndrome 4 | Enrichment | PPP2R5C | 2.63 |
| 30 | Houge-janssens syndrome 2 | Enrichment | PPP2R1A | 2.63 |
| 31 | Trilateral retinoblastoma | Enrichment | RB1 | 2.63 |
| 32 | Ppp2r1a-related neurodevelopmental disorder | Enrichment | PPP2R1A | 2.63 |
| 33 | Lung oat cell carcinoma | Enrichment | RB1 | 2.63 |
| 34 | Colorectal cancer | Enrichment | ATM, CCND1, TP53 | 2.58 |
| 35 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | Enrichment | HDAC6 | 2.50 |
| 36 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 2.50 |
| 37 | Seckel syndrome 1 | Enrichment | ATR | 2.50 |
| 38 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 2.50 |
| 39 | Auriculocondylar syndrome 4 | Enrichment | HDAC9 | 2.50 |
| 40 | Cornelia de lange syndrome 5 | Enrichment | HDAC8 | 2.50 |
| 41 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.50 |
| 42 | Papilloma of choroid plexus | Enrichment | TP53 | 2.50 |
| 43 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.50 |
| 44 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.50 |
| 45 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.50 |
| 46 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.50 |
| 47 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 2.50 |
| 48 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.50 |
| 49 | Ductal carcinoma in situ | Enrichment | TP53 | 2.50 |
| 50 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.50 |
| 51 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.50 |
| 52 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.50 |
| 53 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.50 |
| 54 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.50 |
| 55 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.50 |
| 56 | Choroid plexus cancer | Enrichment | TP53 | 2.50 |
| 57 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.50 |
| 58 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 2.50 |
| 59 | Prostate cancer | Enrichment | ATM, TP53 | 2.42 |
| 60 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.33 |
| 61 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 2.33 |
| 62 | Familial retinoblastoma | Enrichment | RB1 | 2.33 |
| 63 | Noonan syndrome 5 | Enrichment | RAF1 | 2.32 |
| 64 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.32 |
| 65 | Leopard syndrome 2 | Enrichment | RAF1 | 2.32 |
| 66 | Trigonitis | Enrichment | RAF1 | 2.32 |
| 67 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.20 |
| 68 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.20 |
| 69 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.20 |
| 70 | Cervical cancer | Enrichment | TP53 | 2.20 |
| 71 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.20 |
| 72 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.20 |
| 73 | Syndactyly, type iii | Enrichment | HDAC8 | 2.20 |
| 74 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.20 |
| 75 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.20 |
| 76 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.20 |
| 77 | Wilson-turner syndrome | Enrichment | HDAC8 | 2.20 |
| 78 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.20 |
| 79 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.20 |
| 80 | Congenital fibrosarcoma | Enrichment | TP53 | 2.20 |
| 81 | High grade glioma | Enrichment | ATM | 2.20 |
| 82 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.20 |
| 83 | Sarcoma | Enrichment | TP53 | 2.20 |
| 84 | Cervix carcinoma | Enrichment | TP53 | 2.20 |
| 85 | Hodgkin's lymphoma | Enrichment | TP53 | 2.20 |
| 86 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.20 |
| 87 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.20 |
| 88 | Retinoblastoma | Enrichment | RB1 | 2.15 |
| 89 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 2.15 |
| 90 | Hypotrichosis 8 | Enrichment | RB1 | 2.15 |
| 91 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 2.15 |
| 92 | Well-differentiated liposarcoma | Enrichment | CDK4 | 2.15 |
| 93 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | TGFB2, TGFB3 | 2.07 |
| 94 | Hereditary breast carcinoma | Enrichment | ATM, TP53 | 2.07 |
| 95 | Lynch syndrome 4 | Enrichment | RB1 | 2.03 |
| 96 | Ataxia-telangiectasia | Enrichment | ATM | 2.02 |
| 97 | Polycythemia vera | Enrichment | ATM | 2.02 |
| 98 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.02 |
| 99 | Koolen-de vries syndrome | Enrichment | ATM | 2.02 |
| 100 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.02 |
| 101 | Anaplastic astrocytoma | Enrichment | TP53 | 2.02 |
| 102 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.93 |
| 103 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.90 |
| 104 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | CCND2 | 1.90 |
| 105 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.90 |
| 106 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.90 |
| 107 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.90 |
| 108 | Oculomotor apraxia | Enrichment | ATM | 1.90 |
| 109 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, TP53 | 1.88 |
| 110 | Wieacker-wolff syndrome | Enrichment | CCNH | 1.84 |
| 111 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.80 |
| 112 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.80 |
| 113 | Lymphoma | Enrichment | TP53 | 1.80 |
| 114 | Glioblastoma | Enrichment | ATM | 1.80 |
| 115 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.80 |
| 116 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.80 |
| 117 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.72 |
| 118 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.72 |
| 119 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.72 |
| 120 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.72 |
| 121 | Breast adenocarcinoma | Enrichment | TP53 | 1.72 |
| 122 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.72 |
| 123 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.72 |
| 124 | Pregnancy loss, recurrent 1 | Enrichment | CCNB3 | 1.72 |
| 125 | Esophageal cancer | Enrichment | TP53 | 1.66 |
| 126 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.66 |
| 127 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.66 |
| 128 | Essential thrombocythemia | Enrichment | TP53 | 1.66 |
| 129 | Gallbladder cancer | Enrichment | TP53 | 1.66 |
| 130 | Capillary malformations, congenital | Enrichment | CCNH | 1.62 |
| 131 | Glioma susceptibility 1 | Enrichment | TP53 | 1.60 |
| 132 | Fanconi anemia, complementation group c | Enrichment | HDAC8 | 1.60 |
| 133 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.60 |
| 134 | Cornelia de lange syndrome 1 | Enrichment | HDAC8 | 1.55 |
| 135 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.55 |
| 136 | Primary hyperaldosteronism | Enrichment | TP53 | 1.55 |
| 137 | Colonic benign neoplasm | Enrichment | ATM | 1.55 |
| 138 | Cornelia de lange syndrome | Enrichment | HDAC8 | 1.55 |
| 139 | Klippel-trenaunay-weber syndrome | Enrichment | CCNH | 1.55 |
| 140 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | CCNH | 1.55 |
| 141 | Hemangioma, capillary infantile | Enrichment | CCNH | 1.55 |
| 142 | Basal cell carcinoma 1 | Enrichment | CCNH | 1.55 |
| 143 | Lynch syndrome 1 | Enrichment | ATM | 1.50 |
| 144 | Marfan syndrome | Enrichment | TGFB2 | 1.50 |
| 145 | Melanoma | Enrichment | CDKN2A | 1.50 |
| 146 | Familial colorectal cancer | Enrichment | TP53 | 1.50 |
| 147 | Capillary malformation-arteriovenous malformation 1 | Enrichment | CCNH | 1.48 |
| 148 | Noonan syndrome 3 | Enrichment | RAF1 | 1.48 |
| 149 | Hereditary hemorrhagic telangiectasia | Enrichment | CCNH | 1.48 |
| 150 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.48 |
| 151 | Immune deficiency disease | Enrichment | ATM | 1.46 |
| 152 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.46 |
| 153 | Myelodysplastic syndrome | Enrichment | TP53 | 1.46 |
| 154 | Atrial heart septal defect | Enrichment | HDAC8 | 1.46 |
| 155 | Uterine corpus cancer | Enrichment | ATM | 1.46 |
| 156 | Interatrial communication | Enrichment | HDAC8 | 1.46 |
| 157 | Familial colorectal cancer type x | Enrichment | ATM | 1.46 |
| 158 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.43 |
| 159 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.43 |
| 160 | Melanocytic nevus syndrome, congenital | Enrichment | RAF1 | 1.42 |
| 161 | Breast-ovarian cancer, familial 1 | Enrichment | ATM | 1.39 |
| 162 | Arteriovenous malformation | Enrichment | CCNH | 1.37 |
| 163 | Seckel syndrome | Enrichment | ATR | 1.36 |
| 164 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 1.36 |
| 165 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.33 |
| 166 | Myopathy, x-linked, with excessive autophagy | Enrichment | CCNH | 1.33 |
| 167 | Rhabdomyosarcoma | Enrichment | TP53 | 1.30 |
| 168 | Polycystic liver disease | Enrichment | CDC25A | 1.28 |
| 169 | Autosomal dominant polycystic liver disease | Enrichment | CDC25A | 1.28 |
| 170 | Polycystic kidney disease | Enrichment | HDAC8 | 1.26 |
| 171 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.23 |
| 172 | Ehlers-danlos syndrome | Enrichment | TGFB2 | 1.23 |
| 173 | Endometrial cancer | Enrichment | ATM | 1.19 |
| 174 | Hepatoblastoma | Enrichment | TP53 | 1.19 |
| 175 | Hepatocellular carcinoma | Enrichment | TP53 | 1.17 |
| 176 | Visceral heterotaxy | Enrichment | LEFTY2 | 1.17 |
| 177 | Noonan syndrome and noonan-related syndrome | Enrichment | RAF1 | 1.16 |
| 178 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.15 |
| 179 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A | 1.15 |
| 180 | Lung cancer | Enrichment | PPP2R1B | 1.14 |
| 181 | Cystic fibrosis | Enrichment | TGFB1 | 1.01 |
| 182 | Primary autosomal recessive microcephaly | Enrichment | CDK6 | 1.01 |
| 183 | Noonan syndrome 1 | Enrichment | RAF1 | 0.98 |
| 184 | Diamond-blackfan anemia | Enrichment | TP53 | 0.97 |
| 185 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.96 |
| 186 | Rasopathy | Enrichment | RAF1 | 0.93 |
| 187 | Leukemia, acute myeloid | Enrichment | TP53 | 0.92 |
| 188 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.83 |
| 189 | Left ventricular noncompaction | Enrichment | RAF1 | 0.81 |
| 190 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.65 |
| 191 | Complex neurodevelopmental disorder | Enrichment | PPP2CA | 0.59 |
| 192 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.50 |
| 193 | Microcephaly | Enrichment | HDAC8 | 0.49 |