| 1 | Focal cortical dysplasia, type ii | Enrichment | MTOR, TSC1, TSC2 | 7.13 |
| 2 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, TSC1, TSC2 | 7.13 |
| 3 | Adult hepatocellular carcinoma | Enrichment | TP53, TSC1, TSC2 | 5.81 |
| 4 | Lymphangioleiomyomatosis | Enrichment | TSC1, TSC2 | 5.14 |
| 5 | Tuberous sclerosis 1 | Enrichment | TSC1, TSC2 | 4.66 |
| 6 | Hamartoma | Enrichment | TSC1, TSC2 | 4.66 |
| 7 | Inherited cancer-predisposing syndrome | Enrichment | SMAD4, STK11, TP53, TSC1, TSC2 | 4.56 |
| 8 | Pancreatic cancer | Enrichment | SMAD4, STK11, TP53 | 4.38 |
| 9 | Tuberous sclerosis | Enrichment | TSC1, TSC2 | 4.36 |
| 10 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4, STK11 | 4.14 |
| 11 | Gallbladder cancer | Enrichment | SMAD4, TP53 | 3.82 |
| 12 | Gastric cancer | Enrichment | SMAD4, STK11, TP53 | 3.67 |
| 13 | Lip and oral cavity carcinoma | Enrichment | STK11, TP53 | 3.33 |
| 14 | Ceroid lipofuscinosis, neuronal, 10 | Enrichment | CTSD | 2.56 |
| 15 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.56 |
| 16 | Papilloma of choroid plexus | Enrichment | TP53 | 2.56 |
| 17 | Parkinson-dementia syndrome | Enrichment | MAPT | 2.56 |
| 18 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.56 |
| 19 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.56 |
| 20 | Intellectual developmental disorder, autosomal dominant 76 | Enrichment | MARK2 | 2.56 |
| 21 | Supranuclear palsy, progressive, 1 | Enrichment | MAPT | 2.56 |
| 22 | Cardiomyopathy, dilated, 1v | Enrichment | PSEN2 | 2.56 |
| 23 | Progressive supranuclear palsy | Enrichment | MAPT | 2.56 |
| 24 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.56 |
| 25 | Ductal carcinoma in situ | Enrichment | TP53 | 2.56 |
| 26 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.56 |
| 27 | Spondyloepimetaphyseal dysplasia, krakow type | Enrichment | SIK3 | 2.56 |
| 28 | Classic progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.56 |
| 29 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.56 |
| 30 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.56 |
| 31 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.56 |
| 32 | Atypical progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.56 |
| 33 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.56 |
| 34 | Choroid plexus cancer | Enrichment | TP53 | 2.56 |
| 35 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.56 |
| 36 | Huntington's disease-like | Enrichment | PSEN2 | 2.56 |
| 37 | Intestinal polyposis syndrome | Enrichment | STK11 | 2.56 |
| 38 | Language disorder | Enrichment | SIK1 | 2.56 |
| 39 | Bladder cancer | Enrichment | TP53, TSC1 | 2.55 |
| 40 | Peutz-jeghers syndrome | Enrichment | STK11 | 2.26 |
| 41 | Burkitt lymphoma | Enrichment | MYC | 2.26 |
| 42 | Myhre syndrome | Enrichment | SMAD4 | 2.26 |
| 43 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.26 |
| 44 | Cervical cancer | Enrichment | TP53 | 2.26 |
| 45 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.26 |
| 46 | Pick disease of brain | Enrichment | MAPT | 2.26 |
| 47 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.26 |
| 48 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.26 |
| 49 | Cebalid syndrome | Enrichment | MTOR | 2.26 |
| 50 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | Enrichment | STRADA | 2.26 |
| 51 | Developmental and epileptic encephalopathy 30 | Enrichment | SIK1 | 2.26 |
| 52 | Congenital fibrosarcoma | Enrichment | TP53 | 2.26 |
| 53 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.26 |
| 54 | Sarcoma | Enrichment | TP53 | 2.26 |
| 55 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.26 |
| 56 | Cervix carcinoma | Enrichment | TP53 | 2.26 |
| 57 | Hodgkin's lymphoma | Enrichment | TP53 | 2.26 |
| 58 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.26 |
| 59 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.26 |
| 60 | Benign epilepsy with centrotemporal spikes | Enrichment | LOC102724428, STRADA | 2.26 |
| 61 | Centralopathic epilepsy | Enrichment | LOC102724428, STRADA | 2.22 |
| 62 | West syndrome | Enrichment | SIK1, TSC2 | 2.20 |
| 63 | Hereditary breast carcinoma | Enrichment | ESR1, TP53 | 2.20 |
| 64 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 2.09 |
| 65 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 2.09 |
| 66 | Osteogenic sarcoma | Enrichment | TP53 | 2.09 |
| 67 | Alzheimer disease 4 | Enrichment | PSEN2 | 2.09 |
| 68 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.09 |
| 69 | Estrogen resistance | Enrichment | ESR1 | 2.09 |
| 70 | Tuberous sclerosis 2 | Enrichment | TSC2 | 2.09 |
| 71 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 2.09 |
| 72 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.09 |
| 73 | Testicular germ cell cancer | Enrichment | STK11 | 2.09 |
| 74 | Anaplastic astrocytoma | Enrichment | TP53 | 2.09 |
| 75 | Xanthinuria, type ii | Enrichment | TSC2 | 2.09 |
| 76 | Squamous cell carcinoma | Enrichment | TP53 | 2.09 |
| 77 | Adenocarcinoma | Enrichment | TP53 | 2.09 |
| 78 | Migraine without aura | Enrichment | ESR1 | 2.09 |
| 79 | Bone osteosarcoma | Enrichment | TP53 | 2.09 |
| 80 | Melanoma of soft tissue | Enrichment | CREB1 | 2.09 |
| 81 | Testicular cancer | Enrichment | STK11 | 2.09 |
| 82 | Apc-associated polyposis conditions | Enrichment | STK11 | 2.09 |
| 83 | Small cell cancer of the lung | Enrichment | TP53 | 1.96 |
| 84 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.96 |
| 85 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 1.96 |
| 86 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.96 |
| 87 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.96 |
| 88 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.87 |
| 89 | Familial adenomatous polyposis 1 | Enrichment | STK11 | 1.87 |
| 90 | Lymphoma | Enrichment | TP53 | 1.87 |
| 91 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.87 |
| 92 | Hemimegalencephaly | Enrichment | MTOR | 1.87 |
| 93 | Dementia | Enrichment | MAPT | 1.87 |
| 94 | Li-fraumeni syndrome | Enrichment | TP53 | 1.79 |
| 95 | Testicular germ cell tumor | Enrichment | STK11 | 1.79 |
| 96 | Keratoconus | Enrichment | TSC1 | 1.79 |
| 97 | Adrenocortical carcinoma | Enrichment | TP53 | 1.79 |
| 98 | Breast adenocarcinoma | Enrichment | TP53 | 1.79 |
| 99 | Breast cancer | Enrichment | ESR1, TP53 | 1.75 |
| 100 | Esophageal cancer | Enrichment | TP53 | 1.72 |
| 101 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.72 |
| 102 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.72 |
| 103 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.72 |
| 104 | Semantic dementia | Enrichment | MAPT | 1.72 |
| 105 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.72 |
| 106 | Essential thrombocythemia | Enrichment | TP53 | 1.72 |
| 107 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.72 |
| 108 | Overgrowth syndrome | Enrichment | MTOR | 1.72 |
| 109 | Early-onset autosomal dominant alzheimer disease | Enrichment | PSEN2 | 1.72 |
| 110 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.72 |
| 111 | Glioma susceptibility 1 | Enrichment | TP53 | 1.67 |
| 112 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.67 |
| 113 | Ewing sarcoma | Enrichment | ETV4 | 1.67 |
| 114 | Colorectal cancer | Enrichment | SMAD4, TP53 | 1.63 |
| 115 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.61 |
| 116 | Progressive non-fluent aphasia | Enrichment | MAPT | 1.61 |
| 117 | Primary hyperaldosteronism | Enrichment | TP53 | 1.61 |
| 118 | Behavioral variant of frontotemporal dementia | Enrichment | MAPT | 1.61 |
| 119 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.57 |
| 120 | Melanoma | Enrichment | STK11 | 1.57 |
| 121 | Familial colorectal cancer | Enrichment | TP53 | 1.57 |
| 122 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.53 |
| 123 | Frontotemporal dementia 1 | Enrichment | MAPT | 1.53 |
| 124 | Myelodysplastic syndrome | Enrichment | TP53 | 1.53 |
| 125 | Ovarian cancer | Enrichment | TP53, TSC2 | 1.51 |
| 126 | Alzheimer's disease | Enrichment | MAPT | 1.46 |
| 127 | Autism spectrum disorder | Enrichment | MARK2, TSC2 | 1.45 |
| 128 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.43 |
| 129 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.40 |
| 130 | Neuronal ceroid lipofuscinosis | Enrichment | CTSD | 1.40 |
| 131 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 1.40 |
| 132 | Kidney disease | Enrichment | TSC1 | 1.40 |
| 133 | Rare genetic intellectual disability | Enrichment | MTOR | 1.40 |
| 134 | Rhabdomyosarcoma | Enrichment | TP53 | 1.37 |
| 135 | Gliosarcoma | Enrichment | TP53 | 1.37 |
| 136 | Alzheimer disease, familial, 1 | Enrichment | MAPT | 1.34 |
| 137 | Melanoma, cutaneous malignant 1 | Enrichment | STK11 | 1.34 |
| 138 | Giant cell glioblastoma | Enrichment | TP53 | 1.34 |
| 139 | Early infantile developmental and epileptic encephalopathy | Enrichment | SIK1 | 1.32 |
| 140 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.30 |
| 141 | Hepatoblastoma | Enrichment | TP53 | 1.25 |
| 142 | Hepatocellular carcinoma | Enrichment | TP53 | 1.23 |
| 143 | Myocardial infarction | Enrichment | ESR1 | 1.23 |
| 144 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.22 |
| 145 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 1.22 |
| 146 | Parkinson disease, late-onset | Enrichment | MAPT | 1.20 |
| 147 | Prostate cancer | Enrichment | TP53 | 1.12 |
| 148 | Cakut | Enrichment | ETV4 | 1.05 |
| 149 | Diamond-blackfan anemia | Enrichment | TP53 | 1.03 |
| 150 | Leukemia, acute myeloid | Enrichment | TP53 | 0.98 |
| 151 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD4 | 0.95 |
| 152 | Thrombocytopenia | Enrichment | SMAD4 | 0.91 |
| 153 | Autosomal dominant non-syndromic intellectual disability | Enrichment | BRSK2 | 0.89 |
| 154 | Familial isolated dilated cardiomyopathy | Enrichment | PSEN2 | 0.87 |
| 155 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.85 |
| 156 | Myeloma, multiple | Enrichment | TP53 | 0.85 |
| 157 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MAPT | 0.83 |
| 158 | Autosomal recessive non-syndromic intellectual disability | Enrichment | EZR | 0.83 |
| 159 | Congenital nervous system abnormality | Enrichment | TSC2 | 0.60 |
| 160 | Nervous system disease | Enrichment | TSC2 | 0.60 |