| 1 | Focal cortical dysplasia, type ii | Enrichment | MTOR, TSC1, TSC2 | 6.44 |
| 2 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, TSC1, TSC2 | 6.44 |
| 3 | Adult hepatocellular carcinoma | Enrichment | TP53, TSC1, TSC2 | 5.13 |
| 4 | Pick disease of brain | Enrichment | MAPT, PSEN1 | 4.69 |
| 5 | Lymphangioleiomyomatosis | Enrichment | TSC1, TSC2 | 4.69 |
| 6 | Alzheimer's disease | Enrichment | APP, MAPT, PSEN1 | 4.60 |
| 7 | Inherited cancer-predisposing syndrome | Enrichment | CDK4, CDKN1B, SMARCB1, TP53, TSC1, TSC2 | 4.53 |
| 8 | Alzheimer disease, familial, 1 | Enrichment | APP, MAPT, PSEN1 | 4.23 |
| 9 | Tuberous sclerosis 1 | Enrichment | TSC1, TSC2 | 4.21 |
| 10 | Hamartoma | Enrichment | TSC1, TSC2 | 4.21 |
| 11 | Atypical teratoid rhabdoid tumor | Enrichment | SMARCB1, TP53 | 4.21 |
| 12 | Tuberous sclerosis | Enrichment | TSC1, TSC2 | 3.91 |
| 13 | Rhabdomyosarcoma 2 | Enrichment | FOXO1, TP53 | 3.69 |
| 14 | Dementia | Enrichment | MAPT, PSEN1 | 3.69 |
| 15 | Semantic dementia | Enrichment | MAPT, PSEN1 | 3.37 |
| 16 | Early-onset autosomal dominant alzheimer disease | Enrichment | APP, PSEN1 | 3.37 |
| 17 | Glioma susceptibility 1 | Enrichment | H3-3A, TP53 | 3.25 |
| 18 | Progressive non-fluent aphasia | Enrichment | MAPT, PSEN1 | 3.14 |
| 19 | Behavioral variant of frontotemporal dementia | Enrichment | MAPT, PSEN1 | 3.14 |
| 20 | Leukemia, chronic lymphocytic | Enrichment | CCND1, TP53 | 3.04 |
| 21 | Frontotemporal dementia 1 | Enrichment | MAPT, PSEN1 | 2.96 |
| 22 | Ovarian cancer | Enrichment | CDKN1B, SMARCB1, TP53, TSC2 | 2.94 |
| 23 | Diffuse large b-cell lymphoma | Enrichment | FOXO1, TP53 | 2.48 |
| 24 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.34 |
| 25 | Acne inversa, familial, 1 | Enrichment | NCSTN | 2.34 |
| 26 | Polydactyly, preaxial i | Enrichment | GLI1 | 2.34 |
| 27 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 2.34 |
| 28 | Iga nephropathy 3 | Enrichment | SPRY2 | 2.34 |
| 29 | Intellectual developmental disorder, autosomal dominant 7 | Enrichment | DYRK1A | 2.34 |
| 30 | Wilms tumor 6 | Enrichment | REST | 2.34 |
| 31 | Brunet-wagner neurodevelopmental syndrome | Enrichment | RBL2 | 2.34 |
| 32 | Polydactyly, postaxial, type a8 | Enrichment | GLI1 | 2.34 |
| 33 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.34 |
| 34 | Papilloma of choroid plexus | Enrichment | TP53 | 2.34 |
| 35 | Parkinson-dementia syndrome | Enrichment | MAPT | 2.34 |
| 36 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.34 |
| 37 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.34 |
| 38 | Supranuclear palsy, progressive, 1 | Enrichment | MAPT | 2.34 |
| 39 | Progressive supranuclear palsy | Enrichment | MAPT | 2.34 |
| 40 | Cerebral amyloid angiopathy, app-related | Enrichment | APP | 2.34 |
| 41 | Rhabdoid tumor predisposition syndrome 1 | Enrichment | SMARCB1 | 2.34 |
| 42 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.34 |
| 43 | Deafness, autosomal dominant 27 | Enrichment | REST | 2.34 |
| 44 | Cardiomyopathy, dilated, 1u | Enrichment | PSEN1 | 2.34 |
| 45 | Neurilemmoma | Enrichment | SMARCB1 | 2.34 |
| 46 | Acne inversa, familial, 2, with or without dowling-degos disease | Enrichment | PSENEN | 2.34 |
| 47 | Acne inversa, familial, 3 | Enrichment | PSEN1 | 2.34 |
| 48 | Ductal carcinoma in situ | Enrichment | TP53 | 2.34 |
| 49 | Coffin-siris syndrome 3 | Enrichment | SMARCB1 | 2.34 |
| 50 | Fibromatosis, gingival, 5 | Enrichment | REST | 2.34 |
| 51 | Bryant-li-bhoj neurodevelopmental syndrome 1 | Enrichment | H3-3A | 2.34 |
| 52 | Meier-gorlin syndrome 6 | Enrichment | GMNN | 2.34 |
| 53 | Classic progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.34 |
| 54 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.34 |
| 55 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.34 |
| 56 | Atypical progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.34 |
| 57 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.34 |
| 58 | Choroid plexus cancer | Enrichment | TP53 | 2.34 |
| 59 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.34 |
| 60 | Pash syndrome | Enrichment | NCSTN | 2.34 |
| 61 | Bladder cancer | Enrichment | TP53, TSC1 | 2.11 |
| 62 | Cerebral amyloid angiopathy, cst3-related | Enrichment | APP | 2.04 |
| 63 | Fibromatosis, gingival, 1 | Enrichment | REST | 2.04 |
| 64 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.04 |
| 65 | Alzheimer disease 3 | Enrichment | PSEN1 | 2.04 |
| 66 | Cervical cancer | Enrichment | TP53 | 2.04 |
| 67 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.04 |
| 68 | Schwannomatosis 1 | Enrichment | SMARCB1 | 2.04 |
| 69 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 2.04 |
| 70 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.04 |
| 71 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.04 |
| 72 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | Enrichment | DLL1 | 2.04 |
| 73 | Cebalid syndrome | Enrichment | MTOR | 2.04 |
| 74 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCB1 | 2.04 |
| 75 | Congenital fibrosarcoma | Enrichment | TP53 | 2.04 |
| 76 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.04 |
| 77 | Sarcoma | Enrichment | TP53 | 2.04 |
| 78 | Cervix carcinoma | Enrichment | TP53 | 2.04 |
| 79 | Hodgkin's lymphoma | Enrichment | TP53 | 2.04 |
| 80 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.04 |
| 81 | Bryant-li-bhoj neurodevelopmental syndrome 2 | Enrichment | H3-3A | 2.04 |
| 82 | Postaxial polydactyly type b | Enrichment | GLI1 | 2.04 |
| 83 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.04 |
| 84 | Malignant peritoneal mesothelioma | Enrichment | LATS2 | 2.04 |
| 85 | Autism spectrum disorder | Enrichment | DYRK1A, SMARCB1, TSC2 | 1.87 |
| 86 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.86 |
| 87 | Osteogenic sarcoma | Enrichment | TP53 | 1.86 |
| 88 | Alzheimer disease 4 | Enrichment | PSEN1 | 1.86 |
| 89 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.86 |
| 90 | Tuberous sclerosis 2 | Enrichment | TSC2 | 1.86 |
| 91 | Developmental and epileptic encephalopathy 31b | Enrichment | DNM1 | 1.86 |
| 92 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 1.86 |
| 93 | Anaplastic astrocytoma | Enrichment | TP53 | 1.86 |
| 94 | Xanthinuria, type ii | Enrichment | TSC2 | 1.86 |
| 95 | Squamous cell carcinoma | Enrichment | TP53 | 1.86 |
| 96 | Adenocarcinoma | Enrichment | TP53 | 1.86 |
| 97 | Bone osteosarcoma | Enrichment | TP53 | 1.86 |
| 98 | Schwannomatosis | Enrichment | SMARCB1 | 1.86 |
| 99 | Melanoma of soft tissue | Enrichment | CREB1 | 1.86 |
| 100 | Well-differentiated liposarcoma | Enrichment | CDK4 | 1.86 |
| 101 | Keratoacanthoma | Enrichment | NOTCH1 | 1.86 |
| 102 | Gastric cancer | Enrichment | CDK4, TP53 | 1.78 |
| 103 | West syndrome | Enrichment | DNM1, TSC2 | 1.76 |
| 104 | Small cell cancer of the lung | Enrichment | TP53 | 1.74 |
| 105 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.74 |
| 106 | Mantle cell lymphoma | Enrichment | CCND1 | 1.74 |
| 107 | Enophthalmos | Enrichment | DYRK1A | 1.74 |
| 108 | Dowling-degos disease | Enrichment | PSENEN | 1.74 |
| 109 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.74 |
| 110 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.74 |
| 111 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.74 |
| 112 | Full schwannomatosis | Enrichment | SMARCB1 | 1.74 |
| 113 | Gingival fibromatosis | Enrichment | REST | 1.74 |
| 114 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.64 |
| 115 | Developmental and epileptic encephalopathy 31a | Enrichment | DNM1 | 1.64 |
| 116 | Lymphoma | Enrichment | TP53 | 1.64 |
| 117 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.64 |
| 118 | Hemimegalencephaly | Enrichment | MTOR | 1.64 |
| 119 | Hereditary breast ovarian cancer syndrome | Enrichment | EIF2B5, TP53 | 1.58 |
| 120 | Myeloma, multiple | Enrichment | CCND1, TP53 | 1.57 |
| 121 | Li-fraumeni syndrome | Enrichment | TP53 | 1.57 |
| 122 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | PSEN1 | 1.57 |
| 123 | Keratoconus | Enrichment | TSC1 | 1.57 |
| 124 | Adrenocortical carcinoma | Enrichment | TP53 | 1.57 |
| 125 | Breast adenocarcinoma | Enrichment | TP53 | 1.57 |
| 126 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MAPT, PSEN1 | 1.54 |
| 127 | Esophageal cancer | Enrichment | TP53 | 1.50 |
| 128 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.50 |
| 129 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.50 |
| 130 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.50 |
| 131 | Leukoencephalopathy with vanishing white matter 1 | Enrichment | EIF2B5 | 1.50 |
| 132 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.50 |
| 133 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.50 |
| 134 | Alzheimer's disease 1 | Enrichment | APP | 1.50 |
| 135 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.50 |
| 136 | Essential thrombocythemia | Enrichment | TP53 | 1.50 |
| 137 | Gallbladder cancer | Enrichment | TP53 | 1.50 |
| 138 | Overgrowth syndrome | Enrichment | MTOR | 1.50 |
| 139 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.50 |
| 140 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.44 |
| 141 | Lennox-gastaut syndrome | Enrichment | DNM1 | 1.44 |
| 142 | Leukoencephalopathy with vanishing white matter 5 | Enrichment | EIF2B5 | 1.44 |
| 143 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.44 |
| 144 | Ellis-van creveld syndrome | Enrichment | GLI1 | 1.39 |
| 145 | Leukoencephalopathy with vanishing white matter | Enrichment | EIF2B5 | 1.39 |
| 146 | Primary hyperaldosteronism | Enrichment | TP53 | 1.39 |
| 147 | Meier-gorlin syndrome 1 | Enrichment | GMNN | 1.35 |
| 148 | Familial colorectal cancer | Enrichment | TP53 | 1.35 |
| 149 | Meningioma, familial | Enrichment | SMARCB1 | 1.31 |
| 150 | Myelodysplastic syndrome | Enrichment | TP53 | 1.31 |
| 151 | Meningioma | Enrichment | SMARCB1 | 1.27 |
| 152 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.27 |
| 153 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.24 |
| 154 | Stereotypic movement disorder | Enrichment | DNM1 | 1.24 |
| 155 | Nk-cell enteropathy | Enrichment | SMARCB1 | 1.24 |
| 156 | Colorectal cancer | Enrichment | CCND1, TP53 | 1.22 |
| 157 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.21 |
| 158 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.21 |
| 159 | Coffin-siris syndrome 1 | Enrichment | SMARCB1 | 1.18 |
| 160 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.18 |
| 161 | Polydactyly, postaxial, type a1 | Enrichment | GLI1 | 1.18 |
| 162 | Wilms tumor 1 | Enrichment | REST | 1.18 |
| 163 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 1.18 |
| 164 | Kidney disease | Enrichment | TSC1 | 1.18 |
| 165 | Rare genetic intellectual disability | Enrichment | MTOR | 1.18 |
| 166 | Septopreoptic holoprosencephaly | Enrichment | DLL1 | 1.18 |
| 167 | Male infertility with spermatogenesis disorder | Enrichment | DYRK1A | 1.18 |
| 168 | Midline interhemispheric variant of holoprosencephaly | Enrichment | DLL1 | 1.18 |
| 169 | Rhabdomyosarcoma | Enrichment | TP53 | 1.15 |
| 170 | Gliosarcoma | Enrichment | TP53 | 1.15 |
| 171 | Microform holoprosencephaly | Enrichment | DLL1 | 1.15 |
| 172 | Lobar holoprosencephaly | Enrichment | DLL1 | 1.15 |
| 173 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4 | 1.13 |
| 174 | Giant cell glioblastoma | Enrichment | TP53 | 1.13 |
| 175 | Alobar holoprosencephaly | Enrichment | DLL1 | 1.13 |
| 176 | Semilobar holoprosencephaly | Enrichment | DLL1 | 1.10 |
| 177 | Congenital nervous system abnormality | Enrichment | PSEN1, TSC2 | 1.07 |
| 178 | Nervous system disease | Enrichment | PSEN1, TSC2 | 1.07 |
| 179 | Hepatoblastoma | Enrichment | TP53 | 1.04 |
| 180 | Hepatocellular carcinoma | Enrichment | TP53 | 1.02 |
| 181 | Microphthalmia | Enrichment | DYRK1A | 1.02 |
| 182 | Skin disease | Enrichment | NCSTN | 1.02 |
| 183 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.00 |
| 184 | Parkinson disease, late-onset | Enrichment | MAPT | 0.98 |
| 185 | Pancreatic cancer | Enrichment | TP53 | 0.97 |
| 186 | Tetralogy of fallot | Enrichment | NOTCH1 | 0.95 |
| 187 | Prostate cancer | Enrichment | TP53 | 0.90 |
| 188 | Primary autosomal recessive microcephaly | Enrichment | CDK6 | 0.86 |
| 189 | Connective tissue disease | Enrichment | NOTCH1 | 0.86 |
| 190 | Diamond-blackfan anemia | Enrichment | TP53 | 0.82 |
| 191 | Leukemia, acute myeloid | Enrichment | TP53 | 0.78 |
| 192 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1 | 0.74 |
| 193 | Hereditary breast carcinoma | Enrichment | TP53 | 0.74 |
| 194 | Autosomal dominant non-syndromic intellectual disability | Enrichment | DLL1 | 0.69 |
| 195 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | REST | 0.67 |
| 196 | Familial isolated dilated cardiomyopathy | Enrichment | PSEN1 | 0.67 |
| 197 | Undetermined early-onset epileptic encephalopathy | Enrichment | DNM1 | 0.64 |
| 198 | Breast cancer | Enrichment | TP53 | 0.54 |
| 199 | Microcephaly | Enrichment | DYRK1A | 0.36 |
| 200 | Complex neurodevelopmental disorder | Enrichment | DYRK1A | 0.36 |