| 1 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | Enrichment | COL9A1, COL9A3 | 4.82 |
| 2 | Autosomal recessive stickler syndrome | Enrichment | COL9A1, COL9A3 | 4.52 |
| 3 | Bladder cancer | Enrichment | CTNNB1, EGFR, TP53 | 4.42 |
| 4 | Adrenocortical carcinoma | Enrichment | CTNNB1, TP53 | 4.12 |
| 5 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, TP53 | 3.98 |
| 6 | Gallbladder cancer | Enrichment | CTNNB1, TP53 | 3.98 |
| 7 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, TP53 | 3.74 |
| 8 | Stickler syndrome | Enrichment | COL9A1, COL9A3 | 3.65 |
| 9 | Lip and oral cavity carcinoma | Enrichment | EGFR, TP53 | 3.48 |
| 10 | Lung cancer susceptibility 3 | Enrichment | EGFR, TP53 | 3.34 |
| 11 | Gliosarcoma | Enrichment | EGFR, TP53 | 3.23 |
| 12 | Giant cell glioblastoma | Enrichment | EGFR, TP53 | 3.17 |
| 13 | Colorectal cancer | Enrichment | CTNNB1, FANCI, TP53 | 3.00 |
| 14 | Hepatoblastoma | Enrichment | CTNNB1, TP53 | 2.99 |
| 15 | Hepatocellular carcinoma | Enrichment | CTNNB1, TP53 | 2.95 |
| 16 | Ovarian cancer | Enrichment | CTNNB1, EGFR, TP53 | 2.81 |
| 17 | Fanconi anemia, complementation group t | Enrichment | UBE2T | 2.64 |
| 18 | Greenberg dysplasia | Enrichment | LBR | 2.64 |
| 19 | Pelger-huet anomaly | Enrichment | LBR | 2.64 |
| 20 | Epiphyseal dysplasia, multiple, 6 | Enrichment | COL9A1 | 2.64 |
| 21 | Rhizomelic skeletal dysplasia with or without pelger-huet anomaly | Enrichment | LBR | 2.64 |
| 22 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.64 |
| 23 | Papilloma of choroid plexus | Enrichment | TP53 | 2.64 |
| 24 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.64 |
| 25 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.64 |
| 26 | Multiple congenital anomalies-neurodevelopmental syndrome, x-linked | Enrichment | OTUD5 | 2.64 |
| 27 | Epiphyseal dysplasia, multiple, 3 | Enrichment | COL9A3 | 2.64 |
| 28 | Epilepsy, progressive myoclonic, 9 | Enrichment | LMNB2 | 2.64 |
| 29 | Lipodystrophy, partial, acquired | Enrichment | LMNB2 | 2.64 |
| 30 | Stickler syndrome, type iv | Enrichment | COL9A1 | 2.64 |
| 31 | Reynolds syndrome | Enrichment | LBR | 2.64 |
| 32 | Ductal carcinoma in situ | Enrichment | TP53 | 2.64 |
| 33 | Microcephaly 27, primary, autosomal dominant | Enrichment | LMNB2 | 2.64 |
| 34 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.64 |
| 35 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.64 |
| 36 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.64 |
| 37 | Retinal lattice degeneration | Enrichment | COL9A3 | 2.64 |
| 38 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.64 |
| 39 | Morimoto-ryu-malicdan neuromuscular syndrome | Enrichment | RFC4 | 2.64 |
| 40 | Choroid plexus cancer | Enrichment | TP53 | 2.64 |
| 41 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.64 |
| 42 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.64 |
| 43 | Connective tissue disease | Enrichment | COL9A1, COL9A3 | 2.62 |
| 44 | Fanconi anemia, complementation group a | Enrichment | FANCI, UBE2T | 2.54 |
| 45 | Gastric cancer | Enrichment | FANCI, TP53 | 2.37 |
| 46 | Burkitt lymphoma | Enrichment | MYC | 2.34 |
| 47 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.34 |
| 48 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.34 |
| 49 | Cervical cancer | Enrichment | TP53 | 2.34 |
| 50 | Fanconi anemia, complementation group i | Enrichment | FANCI | 2.34 |
| 51 | Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy | Enrichment | LMNB2 | 2.34 |
| 52 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.34 |
| 53 | Stickler syndrome, type vi | Enrichment | COL9A3 | 2.34 |
| 54 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.34 |
| 55 | Congenital fibrosarcoma | Enrichment | TP53 | 2.34 |
| 56 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.34 |
| 57 | Sarcoma | Enrichment | TP53 | 2.34 |
| 58 | Cervix carcinoma | Enrichment | TP53 | 2.34 |
| 59 | Hodgkin's lymphoma | Enrichment | TP53 | 2.34 |
| 60 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.34 |
| 61 | Teratoma | Enrichment | CTNNB1 | 2.34 |
| 62 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.34 |
| 63 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.16 |
| 64 | Neurodegeneration with brain iron accumulation 5 | Enrichment | OTUD5 | 2.16 |
| 65 | Osteogenic sarcoma | Enrichment | TP53 | 2.16 |
| 66 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.16 |
| 67 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.16 |
| 68 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.16 |
| 69 | Anus, imperforate | Enrichment | CTNNB1 | 2.16 |
| 70 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.16 |
| 71 | Desmoid tumor | Enrichment | CTNNB1 | 2.16 |
| 72 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 2.16 |
| 73 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.16 |
| 74 | Anaplastic astrocytoma | Enrichment | TP53 | 2.16 |
| 75 | Squamous cell carcinoma | Enrichment | TP53 | 2.16 |
| 76 | Adenocarcinoma | Enrichment | TP53 | 2.16 |
| 77 | Bone osteosarcoma | Enrichment | TP53 | 2.16 |
| 78 | Childhood apraxia of speech | Enrichment | RFC3 | 2.16 |
| 79 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.16 |
| 80 | Small cell cancer of the lung | Enrichment | TP53 | 2.04 |
| 81 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 2.04 |
| 82 | Pilomatrixoma | Enrichment | CTNNB1 | 2.04 |
| 83 | Alazami syndrome | Enrichment | CTNNB1 | 2.04 |
| 84 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 2.04 |
| 85 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 2.04 |
| 86 | Craniopharyngioma | Enrichment | CTNNB1 | 2.04 |
| 87 | Retinal detachment | Enrichment | COL9A3 | 1.94 |
| 88 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.94 |
| 89 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.94 |
| 90 | Lymphoma | Enrichment | TP53 | 1.94 |
| 91 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.94 |
| 92 | Li-fraumeni syndrome | Enrichment | TP53 | 1.87 |
| 93 | Cowden syndrome 1 | Enrichment | EGFR | 1.87 |
| 94 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.87 |
| 95 | Breast adenocarcinoma | Enrichment | TP53 | 1.87 |
| 96 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.87 |
| 97 | Esophageal cancer | Enrichment | TP53 | 1.80 |
| 98 | Mitochondrial dna depletion syndrome 4a | Enrichment | FANCI | 1.80 |
| 99 | Intervertebral disc disease | Enrichment | COL9A3 | 1.80 |
| 100 | Essential thrombocythemia | Enrichment | TP53 | 1.80 |
| 101 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.80 |
| 102 | Glioma susceptibility 1 | Enrichment | TP53 | 1.74 |
| 103 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.74 |
| 104 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.74 |
| 105 | Primary hyperaldosteronism | Enrichment | TP53 | 1.69 |
| 106 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.65 |
| 107 | Familial colorectal cancer | Enrichment | TP53 | 1.65 |
| 108 | Myelodysplastic syndrome | Enrichment | TP53 | 1.60 |
| 109 | Lung non-small cell carcinoma | Enrichment | EGFR | 1.60 |
| 110 | Medulloblastoma | Enrichment | CTNNB1 | 1.50 |
| 111 | Rhabdomyosarcoma | Enrichment | TP53 | 1.44 |
| 112 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, TP53 | 1.44 |
| 113 | Polycystic liver disease | Enrichment | CTNNB1 | 1.42 |
| 114 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.42 |
| 115 | Arteriovenous malformations of the brain | Enrichment | EGFR | 1.37 |
| 116 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.37 |
| 117 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.29 |
| 118 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 1.29 |
| 119 | Pancreatic cancer | Enrichment | TP53 | 1.25 |
| 120 | Jeune thoracic dystrophy | Enrichment | LBR | 1.25 |
| 121 | Asphyxiating thoracic dystrophy | Enrichment | LBR | 1.21 |
| 122 | Prostate cancer | Enrichment | TP53 | 1.19 |
| 123 | Lung cancer | Enrichment | EGFR | 1.15 |
| 124 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | LBR | 1.14 |
| 125 | Diamond-blackfan anemia | Enrichment | TP53 | 1.10 |
| 126 | Leukemia, acute myeloid | Enrichment | TP53 | 1.06 |
| 127 | Hereditary breast carcinoma | Enrichment | TP53 | 1.02 |
| 128 | Sensorineural hearing loss | Enrichment | COL9A1 | 0.98 |
| 129 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.93 |
| 130 | Myeloma, multiple | Enrichment | TP53 | 0.92 |
| 131 | Breast cancer | Enrichment | TP53 | 0.80 |
| 132 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.67 |
| 133 | Nervous system disease | Enrichment | CTNNB1 | 0.67 |
| 134 | Microcephaly | Enrichment | CTNNB1 | 0.61 |
| 135 | Complex neurodevelopmental disorder | Enrichment | OTUD5 | 0.61 |
| 136 | Hereditary retinal dystrophy | Enrichment | COL9A1 | 0.31 |
| 137 | Fundus dystrophy | Enrichment | COL9A1 | 0.31 |