| 1 | Hemimegalencephaly | Enrichment | AKT3, MTOR, PIK3CA, RHEB | 9.37 |
| 2 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 8.78 |
| 3 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 7.82 |
| 4 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.13 |
| 5 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 7.13 |
| 6 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA | 6.43 |
| 7 | Colorectal cancer | Enrichment | AKT1, PIK3CA, PIK3R1, PPARG, TP53 | 5.17 |
| 8 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 5.14 |
| 9 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.14 |
| 10 | Lynch syndrome | Enrichment | KRAS, PIK3CA, TGFBR2 | 5.08 |
| 11 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS | 5.08 |
| 12 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.66 |
| 13 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.66 |
| 14 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.66 |
| 15 | Loeys-dietz syndrome 1 | Enrichment | TGFBR1, TGFBR2 | 4.66 |
| 16 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.66 |
| 17 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS | 4.50 |
| 18 | Hepatocellular carcinoma | Enrichment | IGF2R, PIK3CA, TP53 | 4.39 |
| 19 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 4.36 |
| 20 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.36 |
| 21 | Rasopathy | Enrichment | HRAS, KRAS, NRAS | 4.33 |
| 22 | Focal cortical dysplasia, type ii | Enrichment | MTOR, RHEB | 4.25 |
| 23 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, RHEB | 4.25 |
| 24 | Bladder cancer | Enrichment | HRAS, KRAS, PIK3CA | 4.19 |
| 25 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 4.19 |
| 26 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 3.97 |
| 27 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 3.82 |
| 28 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 3.82 |
| 29 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.82 |
| 30 | Noonan syndrome 3 | Enrichment | HRAS, KRAS | 3.82 |
| 31 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 3.82 |
| 32 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 3.82 |
| 33 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.82 |
| 34 | Ovarian cancer | Enrichment | AKT1, BMPR1A, KRAS, PIK3CA | 3.80 |
| 35 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 3.70 |
| 36 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PIK3CA | 3.64 |
| 37 | Loeys-dietz syndrome | Enrichment | TGFBR1, TGFBR2 | 3.59 |
| 38 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 3.59 |
| 39 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.59 |
| 40 | Type 2 diabetes mellitus | Enrichment | AKT2, INSR, PPARG | 3.54 |
| 41 | Marfan syndrome | Enrichment | TGFBR1, TGFBR2 | 3.49 |
| 42 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 3.49 |
| 43 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.49 |
| 44 | Adult hepatocellular carcinoma | Enrichment | PIK3CA, TP53 | 3.48 |
| 45 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 3.33 |
| 46 | Meningioma | Enrichment | AKT1, PIK3CA | 3.33 |
| 47 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 3.33 |
| 48 | Nk-cell enteropathy | Enrichment | IGF1R, PIK3CB | 3.15 |
| 49 | Gliosarcoma | Enrichment | PPARG, TP53 | 2.96 |
| 50 | Breast cancer | Enrichment | AKT1, KRAS, PIK3CA | 2.96 |
| 51 | Giant cell glioblastoma | Enrichment | PPARG, TP53 | 2.91 |
| 52 | Pancreatic cancer | Enrichment | ACVR1B, KRAS | 2.68 |
| 53 | Macrodactyly | Enrichment | PIK3CA | 2.56 |
| 54 | Proteus syndrome | Enrichment | AKT1 | 2.56 |
| 55 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.56 |
| 56 | Oculoectodermal syndrome | Enrichment | KRAS | 2.56 |
| 57 | Polyposis syndrome, hereditary mixed, 2 | Enrichment | BMPR1A | 2.56 |
| 58 | Acromesomelic dysplasia 3 | Enrichment | BMPR1B | 2.56 |
| 59 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.56 |
| 60 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.56 |
| 61 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.56 |
| 62 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.56 |
| 63 | Noonan syndrome 6 | Enrichment | NRAS | 2.56 |
| 64 | Brachydactyly, type a1, d | Enrichment | BMPR1B | 2.56 |
| 65 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.56 |
| 66 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.56 |
| 67 | Short syndrome | Enrichment | PIK3R1 | 2.56 |
| 68 | Oculoskeletodental syndrome | Enrichment | PIK3C2A | 2.56 |
| 69 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.56 |
| 70 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.56 |
| 71 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.56 |
| 72 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.56 |
| 73 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.56 |
| 74 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.56 |
| 75 | Cowden syndrome 6 | Enrichment | AKT1 | 2.56 |
| 76 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.56 |
| 77 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.56 |
| 78 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.56 |
| 79 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.56 |
| 80 | Hypospadias | Enrichment | PIK3CA | 2.56 |
| 81 | Capillary hemangioma | Enrichment | AKT3 | 2.56 |
| 82 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.56 |
| 83 | Rare venous malformation | Enrichment | PIK3CA | 2.56 |
| 84 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.56 |
| 85 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.56 |
| 86 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.56 |
| 87 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.56 |
| 88 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.56 |
| 89 | Oculocerebrodental syndrome | Enrichment | PIK3C2A | 2.56 |
| 90 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.56 |
| 91 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.56 |
| 92 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.56 |
| 93 | Macrodactyly of toe | Enrichment | PIK3CA | 2.56 |
| 94 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.56 |
| 95 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.56 |
| 96 | Donohue syndrome | Enrichment | INSR | 2.51 |
| 97 | Coffin-lowry syndrome | Enrichment | RPS6KA3 | 2.51 |
| 98 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 2.51 |
| 99 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 2.51 |
| 100 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 2.51 |
| 101 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.51 |
| 102 | Papilloma of choroid plexus | Enrichment | TP53 | 2.51 |
| 103 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.51 |
| 104 | Intellectual developmental disorder, x-linked 19 | Enrichment | RPS6KA3 | 2.51 |
| 105 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.51 |
| 106 | Cardiomyopathy, familial hypertrophic, 6 | Enrichment | PRKAG2 | 2.51 |
| 107 | Glycogen storage disease of heart, lethal congenital | Enrichment | PRKAG2 | 2.51 |
| 108 | Ductal carcinoma in situ | Enrichment | TP53 | 2.51 |
| 109 | Skeletal muscle glycogen content and metabolism quantitative trait locus | Enrichment | PRKAG3 | 2.51 |
| 110 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.51 |
| 111 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.51 |
| 112 | Pparg-associated congenital generalized lipodystrophy | Enrichment | PPARG | 2.51 |
| 113 | Symptomatic form of coffin-lowry syndrome in female carriers | Enrichment | RPS6KA3 | 2.51 |
| 114 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.51 |
| 115 | Choroid plexus cancer | Enrichment | TP53 | 2.51 |
| 116 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.51 |
| 117 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.49 |
| 118 | Lung cancer | Enrichment | KRAS, PIK3CA | 2.47 |
| 119 | Prostate cancer | Enrichment | PIK3CA, TP53 | 2.44 |
| 120 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 2.28 |
| 121 | Costello syndrome | Enrichment | HRAS | 2.26 |
| 122 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 2.26 |
| 123 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 2.26 |
| 124 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.26 |
| 125 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.26 |
| 126 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.26 |
| 127 | Fibrodysplasia ossificans progressiva | Enrichment | ACVR1 | 2.26 |
| 128 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.26 |
| 129 | Spermatogenic failure 17 | Enrichment | PIK3C2G | 2.26 |
| 130 | Cebalid syndrome | Enrichment | MTOR | 2.26 |
| 131 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.26 |
| 132 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.26 |
| 133 | Immune system disease | Enrichment | PIK3CD | 2.26 |
| 134 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.26 |
| 135 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.26 |
| 136 | Hereditary mixed polyposis syndrome | Enrichment | BMPR1A | 2.26 |
| 137 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 2.26 |
| 138 | Juvenile polyposis of infancy | Enrichment | BMPR1A | 2.26 |
| 139 | Wooly hair nevus | Enrichment | HRAS | 2.26 |
| 140 | Gastric cancer | Enrichment | KRAS, PIK3CA | 2.22 |
| 141 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.21 |
| 142 | Carotid intimal medial thickness 1 | Enrichment | PPARG | 2.21 |
| 143 | Cervical cancer | Enrichment | TP53 | 2.21 |
| 144 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 2.21 |
| 145 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.21 |
| 146 | Congenital fibrosarcoma | Enrichment | TP53 | 2.21 |
| 147 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.21 |
| 148 | Sarcoma | Enrichment | TP53 | 2.21 |
| 149 | Cervix carcinoma | Enrichment | TP53 | 2.21 |
| 150 | Hodgkin's lymphoma | Enrichment | TP53 | 2.21 |
| 151 | Familial partial lipodystrophy | Enrichment | PPARG | 2.21 |
| 152 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.21 |
| 153 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | TGFBR1, TGFBR2 | 2.20 |
| 154 | Brachydactyly, type a1 | Enrichment | BMPR1B | 2.09 |
| 155 | Brachydactyly, type c | Enrichment | BMPR1B | 2.09 |
| 156 | Juvenile polyposis syndrome | Enrichment | BMPR1A | 2.09 |
| 157 | Acromesomelic dysplasia 2a | Enrichment | BMPR1B | 2.09 |
| 158 | Acromesomelic dysplasia 2c | Enrichment | BMPR1B | 2.09 |
| 159 | Acromesomelic dysplasia 2b | Enrichment | BMPR1B | 2.09 |
| 160 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.09 |
| 161 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.09 |
| 162 | Transposition of the great arteries, dextro-looped | Enrichment | ACVR1B | 2.09 |
| 163 | Spermatocytoma | Enrichment | HRAS | 2.09 |
| 164 | Keratoacanthoma | Enrichment | PIK3CA | 2.09 |
| 165 | Osteogenic sarcoma | Enrichment | TP53 | 2.03 |
| 166 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.03 |
| 167 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.03 |
| 168 | Anaplastic astrocytoma | Enrichment | TP53 | 2.03 |
| 169 | Squamous cell carcinoma | Enrichment | TP53 | 2.03 |
| 170 | Adenocarcinoma | Enrichment | TP53 | 2.03 |
| 171 | Bone osteosarcoma | Enrichment | TP53 | 2.03 |
| 172 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 2.03 |
| 173 | Myeloma, multiple | Enrichment | KRAS, PIK3R2 | 1.99 |
| 174 | Brachydactyly, type a2 | Enrichment | BMPR1B | 1.96 |
| 175 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 1.96 |
| 176 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.96 |
| 177 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 1.96 |
| 178 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.96 |
| 179 | Cerebrovascular disease | Enrichment | PIK3CA | 1.96 |
| 180 | Aortic aneurysm | Enrichment | TGFBR1 | 1.96 |
| 181 | Pilocytic astrocytoma | Enrichment | KRAS | 1.96 |
| 182 | Epidermolytic nevus | Enrichment | HRAS | 1.96 |
| 183 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.96 |
| 184 | Hypertelorism | Enrichment | PIK3CA, RPS6KA3 | 1.95 |
| 185 | Small cell cancer of the lung | Enrichment | TP53 | 1.91 |
| 186 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.91 |
| 187 | Lipodystrophy, familial partial, type 3 | Enrichment | PPARG | 1.91 |
| 188 | Leptin deficiency or dysfunction | Enrichment | PPARG | 1.91 |
| 189 | Congenital generalized lipodystrophy | Enrichment | PPARG | 1.91 |
| 190 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.91 |
| 191 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.87 |
| 192 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | BMPR1A | 1.87 |
| 193 | Familial cerebral saccular aneurysm | Enrichment | TGFBR3 | 1.87 |
| 194 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.81 |
| 195 | Insulin-like growth factor i | Enrichment | IGF1R | 1.81 |
| 196 | Lymphoma | Enrichment | TP53 | 1.81 |
| 197 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.81 |
| 198 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.79 |
| 199 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.79 |
| 200 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.79 |
| 201 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.79 |
| 202 | Li-fraumeni syndrome | Enrichment | TP53 | 1.73 |
| 203 | Adrenocortical carcinoma | Enrichment | TP53 | 1.73 |
| 204 | 46,xy disorder of sex development | Enrichment | INSR | 1.73 |
| 205 | Esophageal cancer | Enrichment | TGFBR2 | 1.72 |
| 206 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.72 |
| 207 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.72 |
| 208 | Megacolon | Enrichment | AKT3 | 1.72 |
| 209 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.67 |
| 210 | Essential thrombocythemia | Enrichment | TP53 | 1.67 |
| 211 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.67 |
| 212 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.67 |
| 213 | Glioma susceptibility 1 | Enrichment | TP53 | 1.61 |
| 214 | Gastroesophageal reflux | Enrichment | RPS6KA3 | 1.61 |
| 215 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.61 |
| 216 | Orthostatic intolerance | Enrichment | RPS6KA3 | 1.61 |
| 217 | Polymicrogyria | Enrichment | AKT3 | 1.57 |
| 218 | Primary hyperaldosteronism | Enrichment | TP53 | 1.56 |
| 219 | Ventricular septal defect | Enrichment | RPS6KA3 | 1.56 |
| 220 | Pectus excavatum | Enrichment | TGFBR1 | 1.53 |
| 221 | Familial colorectal cancer type x | Enrichment | BMPR1A | 1.53 |
| 222 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.52 |
| 223 | Familial colorectal cancer | Enrichment | TP53 | 1.52 |
| 224 | Epicanthus | Enrichment | ACVR1 | 1.49 |
| 225 | Myelodysplastic syndrome | Enrichment | TP53 | 1.47 |
| 226 | Specific learning disability | Enrichment | RPS6KA3 | 1.47 |
| 227 | Protein-deficiency anemia | Enrichment | NRAS | 1.46 |
| 228 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.43 |
| 229 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.40 |
| 230 | Rare genetic intellectual disability | Enrichment | MTOR | 1.40 |
| 231 | Rhabdomyosarcoma | Enrichment | HRAS | 1.37 |
| 232 | Wolff-parkinson-white syndrome | Enrichment | PRKAG2 | 1.31 |
| 233 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.30 |
| 234 | Ehlers-danlos syndrome | Enrichment | TGFBR2 | 1.30 |
| 235 | Endometrial cancer | Enrichment | PIK3CA | 1.25 |
| 236 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.24 |
| 237 | Hepatoblastoma | Enrichment | TP53 | 1.20 |
| 238 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.16 |
| 239 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.16 |
| 240 | Connective tissue disease | Enrichment | TGFBR2 | 1.08 |
| 241 | Familial hypertrophic cardiomyopathy | Enrichment | PRKAG2 | 1.01 |
| 242 | Non-syndromic x-linked intellectual disability | Enrichment | RPS6KA3 | 0.98 |
| 243 | Diamond-blackfan anemia | Enrichment | TP53 | 0.98 |
| 244 | Hypertrophic cardiomyopathy | Enrichment | PRKAG2 | 0.90 |
| 245 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.85 |
| 246 | Body mass index quantitative trait locus 11 | Enrichment | PPARG | 0.84 |
| 247 | Primary ovarian insufficiency | Enrichment | IGF2R | 0.78 |
| 248 | Complex neurodevelopmental disorder | Enrichment | PPP2CA | 0.54 |
| 249 | Inherited cancer-predisposing syndrome | Enrichment | BMPR1A | 0.52 |
| 250 | Microcephaly | Enrichment | IGF1R | 0.50 |