| 1 | Adrenocortical carcinoma | Enrichment | CDKN2A, CTNNB1, TP53 | 6.36 |
| 2 | Mosaic variegated aneuploidy syndrome | Enrichment | BUB1B, BUB3 | 4.20 |
| 3 | Bladder cancer | Enrichment | CDKN2A, CTNNB1, TP53 | 4.12 |
| 4 | Li-fraumeni syndrome | Enrichment | CDKN2A, TP53 | 3.92 |
| 5 | Gallbladder cancer | Enrichment | CTNNB1, TP53 | 3.78 |
| 6 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A, TP53 | 3.78 |
| 7 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, TP53 | 3.54 |
| 8 | Leukemia, chronic lymphocytic | Enrichment | CCND1, TP53 | 3.45 |
| 9 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, TP53 | 3.28 |
| 10 | Premature chromatid separation trait | Enrichment | BUB1B | 2.81 |
| 11 | Oocyte/zygote/embryo maturation arrest 14 | Enrichment | CDC20 | 2.81 |
| 12 | Ferguson-bonni neurodevelopmental syndrome | Enrichment | ANAPC7 | 2.81 |
| 13 | Rothmund-thomson syndrome, type 1 | Enrichment | ANAPC1 | 2.81 |
| 14 | Hepatoblastoma | Enrichment | CTNNB1, TP53 | 2.79 |
| 15 | Hepatocellular carcinoma | Enrichment | CTNNB1, TP53 | 2.75 |
| 16 | Retinitis pigmentosa 67 | Enrichment | NEK2 | 2.72 |
| 17 | Colorectal cancer | Enrichment | CCND1, CTNNB1, TP53 | 2.71 |
| 18 | Pancreatic cancer | Enrichment | CDKN2A, TP53 | 2.63 |
| 19 | Global developmental delay with speech and behavioral abnormalities | Enrichment | TNRC6B | 2.54 |
| 20 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.54 |
| 21 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.54 |
| 22 | Papilloma of choroid plexus | Enrichment | TP53 | 2.54 |
| 23 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.54 |
| 24 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.54 |
| 25 | Developmental and epileptic encephalopathy 109 | Enrichment | FZR1 | 2.54 |
| 26 | Ductal carcinoma in situ | Enrichment | TP53 | 2.54 |
| 27 | Epilepsy, familial adult myoclonic, 6 | Enrichment | TNRC6A | 2.54 |
| 28 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | Enrichment | CSF1R | 2.54 |
| 29 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.54 |
| 30 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.54 |
| 31 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.54 |
| 32 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.54 |
| 33 | Csf1r-related disorder | Enrichment | CSF1R | 2.54 |
| 34 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.54 |
| 35 | Choroid plexus cancer | Enrichment | TP53 | 2.54 |
| 36 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | Enrichment | CSF1R | 2.54 |
| 37 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.54 |
| 38 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.54 |
| 39 | Ovarian cancer | Enrichment | CDKN2A, CTNNB1, TP53 | 2.52 |
| 40 | Submucosal cleft palate | Enrichment | UBB | 2.45 |
| 41 | Cleft hard palate | Enrichment | UBB | 2.45 |
| 42 | Uvula, bifid | Enrichment | UBB | 2.28 |
| 43 | Cleft soft palate | Enrichment | UBB | 2.28 |
| 44 | Complex neurodevelopmental disorder | Enrichment | AGO1, TCF7L2, TNRC6B | 2.27 |
| 45 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 2.24 |
| 46 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.24 |
| 47 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.24 |
| 48 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.24 |
| 49 | Cervical cancer | Enrichment | TP53 | 2.24 |
| 50 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.24 |
| 51 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.24 |
| 52 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.24 |
| 53 | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | Enrichment | AGO1 | 2.24 |
| 54 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.24 |
| 55 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.24 |
| 56 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.24 |
| 57 | Split hand-foot malformation | Enrichment | LEF1 | 2.24 |
| 58 | Kleefstra syndrome | Enrichment | EHMT1 | 2.24 |
| 59 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.24 |
| 60 | Congenital fibrosarcoma | Enrichment | TP53 | 2.24 |
| 61 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.24 |
| 62 | Sarcoma | Enrichment | TP53 | 2.24 |
| 63 | Cervix carcinoma | Enrichment | TP53 | 2.24 |
| 64 | Hodgkin's lymphoma | Enrichment | TP53 | 2.24 |
| 65 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.24 |
| 66 | Kleefstra syndrome due to a point mutation | Enrichment | EHMT1 | 2.24 |
| 67 | Teratoma | Enrichment | CTNNB1 | 2.24 |
| 68 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.24 |
| 69 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.24 |
| 70 | Type 2 diabetes mellitus | Enrichment | IL6, TCF7L2 | 2.19 |
| 71 | Gastric cancer | Enrichment | CDKN2A, TP53 | 2.17 |
| 72 | Deafness, autosomal recessive 63 | Enrichment | ANAPC15 | 2.11 |
| 73 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | BUB1B | 2.11 |
| 74 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.07 |
| 75 | Leukoencephalopathy, hereditary diffuse, with spheroids 1 | Enrichment | CSF1R | 2.07 |
| 76 | Osteogenic sarcoma | Enrichment | TP53 | 2.07 |
| 77 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.07 |
| 78 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.07 |
| 79 | Anus, imperforate | Enrichment | CTNNB1 | 2.07 |
| 80 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.07 |
| 81 | Desmoid tumor | Enrichment | CTNNB1 | 2.07 |
| 82 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.07 |
| 83 | Anaplastic astrocytoma | Enrichment | TP53 | 2.07 |
| 84 | Squamous cell carcinoma | Enrichment | TP53 | 2.07 |
| 85 | Adenocarcinoma | Enrichment | TP53 | 2.07 |
| 86 | Bone osteosarcoma | Enrichment | TP53 | 2.07 |
| 87 | Myeloma, multiple | Enrichment | CCND1, TP53 | 1.95 |
| 88 | Kaposi sarcoma | Enrichment | IL6 | 1.94 |
| 89 | Small cell cancer of the lung | Enrichment | TP53 | 1.94 |
| 90 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.94 |
| 91 | Pilomatrixoma | Enrichment | CTNNB1 | 1.94 |
| 92 | Alazami syndrome | Enrichment | CTNNB1 | 1.94 |
| 93 | Mantle cell lymphoma | Enrichment | CCND1 | 1.94 |
| 94 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.94 |
| 95 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.94 |
| 96 | Craniopharyngioma | Enrichment | CTNNB1 | 1.94 |
| 97 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.94 |
| 98 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.84 |
| 99 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.84 |
| 100 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.84 |
| 101 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.84 |
| 102 | Lymphoma | Enrichment | TP53 | 1.84 |
| 103 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.84 |
| 104 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.77 |
| 105 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.77 |
| 106 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.77 |
| 107 | Kleefstra syndrome 1 | Enrichment | EHMT1 | 1.77 |
| 108 | Breast adenocarcinoma | Enrichment | TP53 | 1.77 |
| 109 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.77 |
| 110 | Esophageal cancer | Enrichment | TP53 | 1.70 |
| 111 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.70 |
| 112 | Essential thrombocythemia | Enrichment | TP53 | 1.70 |
| 113 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.70 |
| 114 | Glioma susceptibility 1 | Enrichment | TP53 | 1.64 |
| 115 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.64 |
| 116 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.64 |
| 117 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.59 |
| 118 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | TNRC6B | 1.59 |
| 119 | Primary hyperaldosteronism | Enrichment | TP53 | 1.59 |
| 120 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.55 |
| 121 | Polymicrogyria | Enrichment | EHMT1 | 1.55 |
| 122 | Melanoma | Enrichment | CDKN2A | 1.55 |
| 123 | Familial colorectal cancer | Enrichment | TP53 | 1.55 |
| 124 | Frontotemporal dementia 1 | Enrichment | CSF1R | 1.51 |
| 125 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.51 |
| 126 | Myelodysplastic syndrome | Enrichment | TP53 | 1.51 |
| 127 | Alzheimer's disease | Enrichment | CSF1R | 1.43 |
| 128 | Autism spectrum disorder | Enrichment | EHMT1, TNRC6B | 1.41 |
| 129 | Medulloblastoma | Enrichment | CTNNB1 | 1.40 |
| 130 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.40 |
| 131 | Rhabdomyosarcoma | Enrichment | TP53 | 1.35 |
| 132 | Gliosarcoma | Enrichment | TP53 | 1.35 |
| 133 | Alzheimer disease, familial, 1 | Enrichment | CSF1R | 1.32 |
| 134 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A | 1.32 |
| 135 | Polycystic liver disease | Enrichment | CTNNB1 | 1.32 |
| 136 | Giant cell glioblastoma | Enrichment | TP53 | 1.32 |
| 137 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.32 |
| 138 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.27 |
| 139 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.27 |
| 140 | Inherited cancer-predisposing syndrome | Enrichment | CDKN2A, TP53 | 1.26 |
| 141 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.19 |
| 142 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A | 1.19 |
| 143 | Prostate cancer | Enrichment | TP53 | 1.10 |
| 144 | Diamond-blackfan anemia | Enrichment | TP53 | 1.01 |
| 145 | Leukemia, acute myeloid | Enrichment | TP53 | 0.96 |
| 146 | Hereditary breast carcinoma | Enrichment | TP53 | 0.92 |
| 147 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.83 |
| 148 | Undetermined early-onset epileptic encephalopathy | Enrichment | FZR1 | 0.83 |
| 149 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CSF1R | 0.81 |
| 150 | Schizophrenia | Enrichment | EHMT1 | 0.81 |
| 151 | Autism | Enrichment | TCF7L2 | 0.73 |
| 152 | Breast cancer | Enrichment | TP53 | 0.71 |
| 153 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.58 |
| 154 | Nervous system disease | Enrichment | CTNNB1 | 0.58 |
| 155 | Microcephaly | Enrichment | CTNNB1 | 0.52 |
| 156 | Retinitis pigmentosa | Enrichment | NEK2 | 0.47 |
| 157 | Hereditary retinal dystrophy | Enrichment | NEK2 | 0.37 |
| 158 | Fundus dystrophy | Enrichment | NEK2 | 0.37 |