| 1 | Hemimegalencephaly | Enrichment | AKT3, MTOR, PIK3CA, RHEB | 8.54 |
| 2 | Adult hepatocellular carcinoma | Enrichment | PIK3CA, TP53, TSC1, TSC2 | 7.17 |
| 3 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA, STK11, TP53 | 6.56 |
| 4 | Focal cortical dysplasia, type ii | Enrichment | MTOR, TSC1, TSC2 | 6.34 |
| 5 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, TSC1, TSC2 | 6.34 |
| 6 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 6.32 |
| 7 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA, TP53 | 5.64 |
| 8 | Leptin deficiency or dysfunction | Enrichment | LEP, LEPR | 5.53 |
| 9 | Bladder cancer | Enrichment | CDKN1A, PIK3CA, TP53, TSC1 | 4.93 |
| 10 | Lymphangioleiomyomatosis | Enrichment | TSC1, TSC2 | 4.62 |
| 11 | Type 2 diabetes mellitus | Enrichment | AKT2, HNF4A, INSR, SLC2A4 | 4.28 |
| 12 | Colorectal cancer | Enrichment | AKT1, INS-IGF2, PIK3CA, PIK3R1, TP53 | 4.17 |
| 13 | Tuberous sclerosis 1 | Enrichment | TSC1, TSC2 | 4.14 |
| 14 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.14 |
| 15 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.14 |
| 16 | Hamartoma | Enrichment | TSC1, TSC2 | 4.14 |
| 17 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.14 |
| 18 | Myxofibrosarcoma | Enrichment | CREB3L1, CREB3L2 | 4.13 |
| 19 | Tuberous sclerosis | Enrichment | TSC1, TSC2 | 3.84 |
| 20 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.83 |
| 21 | Gallbladder cancer | Enrichment | PIK3CA, TP53 | 3.30 |
| 22 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.30 |
| 23 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 3.29 |
| 24 | Noonan syndrome 3 | Enrichment | HRAS, RAF1 | 3.29 |
| 25 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 3.17 |
| 26 | Acetyl-coa carboxylase-alpha deficiency | Enrichment | ACACA | 3.13 |
| 27 | Leptin receptor deficiency | Enrichment | LEPR | 3.13 |
| 28 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.07 |
| 29 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 3.06 |
| 30 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 2.98 |
| 31 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 2.96 |
| 32 | Gastric cancer | Enrichment | PIK3CA, STK11, TP53 | 2.91 |
| 33 | Glycogen storage disease | Enrichment | GYS1, GYS2 | 2.89 |
| 34 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA, TP53 | 2.88 |
| 35 | Lung non-small cell carcinoma | Enrichment | HRAS, PIK3CA | 2.88 |
| 36 | Carnitine palmitoyltransferase i deficiency | Enrichment | CPT1A | 2.83 |
| 37 | Meningioma | Enrichment | AKT1, PIK3CA | 2.81 |
| 38 | Ovarian cancer | Enrichment | AKT1, PIK3CA, TP53, TSC2 | 2.81 |
| 39 | Adiponectin deficiency | Enrichment | ADIPOQ | 2.66 |
| 40 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, RAF1 | 2.60 |
| 41 | Myeloma, multiple | Enrichment | HDAC4, PIK3R2, TP53 | 2.56 |
| 42 | Rhabdomyosarcoma | Enrichment | HRAS, TP53 | 2.55 |
| 43 | Inherited cancer-predisposing syndrome | Enrichment | STK11, TP53, TSC1, TSC2 | 2.39 |
| 44 | Maturity-onset diabetes of the young | Enrichment | HNF4A, INS | 2.35 |
| 45 | Macrodactyly | Enrichment | PIK3CA | 2.31 |
| 46 | Proteus syndrome | Enrichment | AKT1 | 2.31 |
| 47 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.31 |
| 48 | Donohue syndrome | Enrichment | INSR | 2.31 |
| 49 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 2.31 |
| 50 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 2.31 |
| 51 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 2.31 |
| 52 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.31 |
| 53 | Mucoepithelial dysplasia, hereditary | Enrichment | SREBF1 | 2.31 |
| 54 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.31 |
| 55 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | Enrichment | HNF4A | 2.31 |
| 56 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.31 |
| 57 | Short syndrome | Enrichment | PIK3R1 | 2.31 |
| 58 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.31 |
| 59 | Papilloma of choroid plexus | Enrichment | TP53 | 2.31 |
| 60 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.31 |
| 61 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.31 |
| 62 | Ifap syndrome 2 | Enrichment | SREBF1 | 2.31 |
| 63 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.31 |
| 64 | Cardiomyopathy, familial hypertrophic, 6 | Enrichment | PRKAG2 | 2.31 |
| 65 | Glycogen storage disease of heart, lethal congenital | Enrichment | PRKAG2 | 2.31 |
| 66 | Spinocerebellar ataxia 26 | Enrichment | EEF2 | 2.31 |
| 67 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.31 |
| 68 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.31 |
| 69 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.31 |
| 70 | Cowden syndrome 6 | Enrichment | AKT1 | 2.31 |
| 71 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.31 |
| 72 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.31 |
| 73 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.31 |
| 74 | Ductal carcinoma in situ | Enrichment | TP53 | 2.31 |
| 75 | Skeletal muscle glycogen content and metabolism quantitative trait locus | Enrichment | PRKAG3 | 2.31 |
| 76 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.31 |
| 77 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.31 |
| 78 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.31 |
| 79 | Low density lipoprotein cholesterol level quantitative trait locus 3 | Enrichment | HMGCR | 2.31 |
| 80 | Muscular dystrophy, limb-girdle, autosomal recessive 28 | Enrichment | HMGCR | 2.31 |
| 81 | Hypospadias | Enrichment | PIK3CA | 2.31 |
| 82 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.31 |
| 83 | Hyperinsulinism due to hnf4a deficiency | Enrichment | HNF4A | 2.31 |
| 84 | Choroid plexus cancer | Enrichment | TP53 | 2.31 |
| 85 | Rare venous malformation | Enrichment | PIK3CA | 2.31 |
| 86 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.31 |
| 87 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.31 |
| 88 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.31 |
| 89 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.31 |
| 90 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.31 |
| 91 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.31 |
| 92 | Intestinal polyposis syndrome | Enrichment | STK11 | 2.31 |
| 93 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.31 |
| 94 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.31 |
| 95 | Macrodactyly of toe | Enrichment | PIK3CA | 2.31 |
| 96 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.31 |
| 97 | Autoinflammatory syndrome, familial, x-linked, behcet-like 2 | Enrichment | ELF4 | 2.30 |
| 98 | Aica-ribosiduria due to atic deficiency | Enrichment | ATIC | 2.30 |
| 99 | Noonan syndrome 5 | Enrichment | RAF1 | 2.30 |
| 100 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.30 |
| 101 | Osteogenesis imperfecta, type xvi | Enrichment | CREB3L1 | 2.30 |
| 102 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.30 |
| 103 | Chromosome 2q37 deletion syndrome | Enrichment | HDAC4 | 2.30 |
| 104 | Parkinson-dementia syndrome | Enrichment | MAPT | 2.30 |
| 105 | Supranuclear palsy, progressive, 1 | Enrichment | MAPT | 2.30 |
| 106 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.30 |
| 107 | Progressive supranuclear palsy | Enrichment | MAPT | 2.30 |
| 108 | Leopard syndrome 2 | Enrichment | RAF1 | 2.30 |
| 109 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.30 |
| 110 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.30 |
| 111 | Neurodevelopmental disorder with central hypotonia and dysmorphic facies | Enrichment | HDAC4 | 2.30 |
| 112 | Classic progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.30 |
| 113 | Trigonitis | Enrichment | RAF1 | 2.30 |
| 114 | Atypical progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.30 |
| 115 | Capillary hemangioma | Enrichment | AKT3 | 2.30 |
| 116 | Primary triglyceride deposit cardiomyovasculopathy | Enrichment | PNPLA2 | 2.30 |
| 117 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.30 |
| 118 | Hepatocellular carcinoma | Enrichment | PIK3CA, TP53 | 2.28 |
| 119 | Noonan syndrome 1 | Enrichment | HRAS, RAF1 | 2.23 |
| 120 | Breast cancer | Enrichment | AKT1, PIK3CA, TP53 | 2.22 |
| 121 | Pancreatic cancer | Enrichment | STK11, TP53 | 2.17 |
| 122 | Rasopathy | Enrichment | HRAS, RAF1 | 2.13 |
| 123 | Prostate cancer | Enrichment | PIK3CA, TP53 | 2.05 |
| 124 | Peutz-jeghers syndrome | Enrichment | STK11 | 2.01 |
| 125 | Maturity-onset diabetes of the young, type 1 | Enrichment | HNF4A | 2.01 |
| 126 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.01 |
| 127 | Glycogen storage disease 0, liver | Enrichment | GYS2 | 2.01 |
| 128 | Cervical cancer | Enrichment | TP53 | 2.01 |
| 129 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 2.01 |
| 130 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.01 |
| 131 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.01 |
| 132 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 2.01 |
| 133 | Silver-russell syndrome 3 | Enrichment | INS-IGF2 | 2.01 |
| 134 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS-IGF2 | 2.01 |
| 135 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.01 |
| 136 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.01 |
| 137 | Hyperproinsulinemia | Enrichment | INS-IGF2 | 2.01 |
| 138 | Spastic paraplegia 73, autosomal dominant | Enrichment | CPT1C | 2.01 |
| 139 | Cebalid syndrome | Enrichment | MTOR | 2.01 |
| 140 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | Enrichment | STRADA | 2.01 |
| 141 | Glycogen storage disease 0, muscle | Enrichment | GYS1 | 2.01 |
| 142 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.01 |
| 143 | Congenital fibrosarcoma | Enrichment | TP53 | 2.01 |
| 144 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.01 |
| 145 | Sarcoma | Enrichment | TP53 | 2.01 |
| 146 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS-IGF2 | 2.01 |
| 147 | Cervix carcinoma | Enrichment | TP53 | 2.01 |
| 148 | Immune system disease | Enrichment | PIK3CD | 2.01 |
| 149 | Hodgkin's lymphoma | Enrichment | TP53 | 2.01 |
| 150 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.01 |
| 151 | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Enrichment | GYS2 | 2.01 |
| 152 | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Enrichment | GYS1 | 2.01 |
| 153 | Hyperinsulinism | Enrichment | HNF4A | 2.01 |
| 154 | Hyperinsulinism due to hnf1a deficiency | Enrichment | HNF4A | 2.01 |
| 155 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.01 |
| 156 | Costello syndrome | Enrichment | HRAS | 2.00 |
| 157 | Isolated growth hormone deficiency, type iii, with agammaglobulinemia | Enrichment | ELF4 | 2.00 |
| 158 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.00 |
| 159 | Neutral lipid storage disease with myopathy | Enrichment | PNPLA2 | 2.00 |
| 160 | Pick disease of brain | Enrichment | MAPT | 2.00 |
| 161 | Genitourinary and/or brain malformation syndrome | Enrichment | PPP1R12A | 2.00 |
| 162 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.00 |
| 163 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.00 |
| 164 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.00 |
| 165 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 2.00 |
| 166 | Wooly hair nevus | Enrichment | HRAS | 2.00 |
| 167 | Lung cancer | Enrichment | FAS, PIK3CA | 1.95 |
| 168 | Familial hypertrophic cardiomyopathy | Enrichment | PRKAG2, RAF1 | 1.93 |
| 169 | Type 1 diabetes mellitus 2 | Enrichment | INS-IGF2 | 1.83 |
| 170 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.83 |
| 171 | Ifap syndrome 1, with or without bresheck syndrome | Enrichment | SREBF1 | 1.83 |
| 172 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.83 |
| 173 | Osteogenic sarcoma | Enrichment | TP53 | 1.83 |
| 174 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.83 |
| 175 | Tuberous sclerosis 2 | Enrichment | TSC2 | 1.83 |
| 176 | Lipodystrophy, familial partial, type 6 | Enrichment | LIPE | 1.83 |
| 177 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.83 |
| 178 | Testicular germ cell cancer | Enrichment | STK11 | 1.83 |
| 179 | Anaplastic astrocytoma | Enrichment | TP53 | 1.83 |
| 180 | Xanthinuria, type ii | Enrichment | TSC2 | 1.83 |
| 181 | Squamous cell carcinoma | Enrichment | TP53 | 1.83 |
| 182 | Adenocarcinoma | Enrichment | TP53 | 1.83 |
| 183 | Bone osteosarcoma | Enrichment | TP53 | 1.83 |
| 184 | Testicular cancer | Enrichment | STK11 | 1.83 |
| 185 | Keratoacanthoma | Enrichment | PIK3CA | 1.83 |
| 186 | Apc-associated polyposis conditions | Enrichment | STK11 | 1.83 |
| 187 | Glomerulopathy with fibronectin deposits 2 | Enrichment | ATIC | 1.82 |
| 188 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.82 |
| 189 | Spermatocytoma | Enrichment | HRAS | 1.82 |
| 190 | Melanoma of soft tissue | Enrichment | CREB1 | 1.82 |
| 191 | Vogt-koyanagi-harada disease | Enrichment | FAS | 1.82 |
| 192 | Small cell cancer of the lung | Enrichment | TP53 | 1.71 |
| 193 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.71 |
| 194 | Maturity-onset diabetes of the young, type 3 | Enrichment | HNF4A | 1.71 |
| 195 | Neonatal diabetes mellitus | Enrichment | INS-IGF2 | 1.71 |
| 196 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.71 |
| 197 | Cerebrovascular disease | Enrichment | PIK3CA | 1.71 |
| 198 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.71 |
| 199 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.71 |
| 200 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.70 |
| 201 | Autoimmune lymphoproliferative syndrome | Enrichment | FAS | 1.70 |
| 202 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.70 |
| 203 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.70 |
| 204 | Epidermolytic nevus | Enrichment | HRAS | 1.70 |
| 205 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.61 |
| 206 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.61 |
| 207 | Familial adenomatous polyposis 1 | Enrichment | STK11 | 1.61 |
| 208 | Lymphoma | Enrichment | TP53 | 1.61 |
| 209 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.61 |
| 210 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | STK11 | 1.61 |
| 211 | Dementia | Enrichment | MAPT | 1.61 |
| 212 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.53 |
| 213 | Li-fraumeni syndrome | Enrichment | TP53 | 1.53 |
| 214 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.53 |
| 215 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.53 |
| 216 | Testicular germ cell tumor | Enrichment | STK11 | 1.53 |
| 217 | Keratoconus | Enrichment | TSC1 | 1.53 |
| 218 | Adrenocortical carcinoma | Enrichment | TP53 | 1.53 |
| 219 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.53 |
| 220 | 46,xy disorder of sex development | Enrichment | INSR | 1.53 |
| 221 | Type 1 diabetes mellitus | Enrichment | INS | 1.53 |
| 222 | Esophageal cancer | Enrichment | TP53 | 1.47 |
| 223 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.47 |
| 224 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.47 |
| 225 | Silver-russell syndrome 1 | Enrichment | INS-IGF2 | 1.47 |
| 226 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.47 |
| 227 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.47 |
| 228 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.47 |
| 229 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.47 |
| 230 | Essential thrombocythemia | Enrichment | TP53 | 1.47 |
| 231 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.47 |
| 232 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MAPT, PPARGC1A | 1.47 |
| 233 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.46 |
| 234 | Semantic dementia | Enrichment | MAPT | 1.46 |
| 235 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.46 |
| 236 | Megacolon | Enrichment | AKT3 | 1.46 |
| 237 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.46 |
| 238 | Body mass index quantitative trait locus 11 | Enrichment | LEPR | 1.44 |
| 239 | Glioma susceptibility 1 | Enrichment | TP53 | 1.41 |
| 240 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.41 |
| 241 | Permanent neonatal diabetes mellitus | Enrichment | INS-IGF2 | 1.41 |
| 242 | Ellis-van creveld syndrome | Enrichment | PRKACB | 1.36 |
| 243 | Primary hyperaldosteronism | Enrichment | TP53 | 1.36 |
| 244 | Limb-girdle muscular dystrophy | Enrichment | HMGCR | 1.36 |
| 245 | Progressive non-fluent aphasia | Enrichment | MAPT | 1.35 |
| 246 | Behavioral variant of frontotemporal dementia | Enrichment | MAPT | 1.35 |
| 247 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.32 |
| 248 | Melanoma | Enrichment | STK11 | 1.32 |
| 249 | Familial colorectal cancer | Enrichment | TP53 | 1.32 |
| 250 | Polymicrogyria | Enrichment | AKT3 | 1.31 |
| 251 | Myelodysplastic syndrome | Enrichment | TP53 | 1.28 |
| 252 | Diabetes mellitus | Enrichment | INS-IGF2 | 1.28 |
| 253 | Frontotemporal dementia 1 | Enrichment | MAPT | 1.27 |
| 254 | Specific learning disability | Enrichment | MAPK1 | 1.27 |
| 255 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.21 |
| 256 | Alzheimer's disease | Enrichment | MAPT | 1.20 |
| 257 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.17 |
| 258 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.14 |
| 259 | Wilms tumor 1 | Enrichment | INS-IGF2 | 1.14 |
| 260 | Lynch syndrome | Enrichment | PIK3CA | 1.14 |
| 261 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 1.14 |
| 262 | Kidney disease | Enrichment | TSC1 | 1.14 |
| 263 | Rare genetic intellectual disability | Enrichment | MTOR | 1.14 |
| 264 | Osteogenesis imperfecta, type iii | Enrichment | CREB3L1 | 1.14 |
| 265 | Wolff-parkinson-white syndrome | Enrichment | PRKAG2 | 1.12 |
| 266 | Gliosarcoma | Enrichment | TP53 | 1.12 |
| 267 | Melanoma, cutaneous malignant 1 | Enrichment | STK11 | 1.09 |
| 268 | Polycystic liver disease | Enrichment | HNF4A | 1.09 |
| 269 | Giant cell glioblastoma | Enrichment | TP53 | 1.09 |
| 270 | Autosomal dominant polycystic liver disease | Enrichment | HNF4A | 1.09 |
| 271 | Alzheimer disease, familial, 1 | Enrichment | MAPT | 1.09 |
| 272 | Beckwith-wiedemann syndrome | Enrichment | INS-IGF2 | 1.07 |
| 273 | Heart, malformation of | Enrichment | MAPK1 | 1.06 |
| 274 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.05 |
| 275 | Behcet syndrome | Enrichment | FAS | 1.04 |
| 276 | Endometrial cancer | Enrichment | PIK3CA | 1.01 |
| 277 | Hepatoblastoma | Enrichment | TP53 | 1.01 |
| 278 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.97 |
| 279 | Brittle bone disorder | Enrichment | CREB3L1 | 0.96 |
| 280 | Parkinson disease, late-onset | Enrichment | MAPT | 0.94 |
| 281 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.94 |
| 282 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.91 |
| 283 | Hirschsprung disease 1 | Enrichment | SREBF1 | 0.87 |
| 284 | Differentiated thyroid carcinoma | Enrichment | HRAS | 0.87 |
| 285 | Non-immune hydrops fetalis | Enrichment | HRAS | 0.84 |
| 286 | Left ventricular noncompaction | Enrichment | RAF1 | 0.79 |
| 287 | Diamond-blackfan anemia | Enrichment | TP53 | 0.79 |
| 288 | Leukemia, acute myeloid | Enrichment | TP53 | 0.74 |
| 289 | Benign epilepsy with centrotemporal spikes | Enrichment | STRADA | 0.74 |
| 290 | Centralopathic epilepsy | Enrichment | STRADA | 0.72 |
| 291 | Hypertrophic cardiomyopathy | Enrichment | PRKAG2 | 0.72 |
| 292 | Nephrotic syndrome | Enrichment | ATIC | 0.71 |
| 293 | West syndrome | Enrichment | TSC2 | 0.71 |
| 294 | Hypertelorism | Enrichment | PIK3CA | 0.64 |
| 295 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.63 |
| 296 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.62 |
| 297 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.48 |
| 298 | Congenital nervous system abnormality | Enrichment | TSC2 | 0.39 |
| 299 | Nervous system disease | Enrichment | TSC2 | 0.39 |
| 300 | Autism spectrum disorder | Enrichment | TSC2 | 0.38 |
| 301 | Microcephaly | Enrichment | MAPK1 | 0.33 |
| 302 | Complex neurodevelopmental disorder | Enrichment | PPP2CA | 0.33 |