| 1 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, MAP2K1, MAP2K2, SOS1, SOS2 | 9.15 |
| 2 | Rasopathy | Enrichment | BRAF, HRAS, MAP2K1, MAP2K2, SOS1, SOS2 | 8.81 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, MAP2K1, MAP2K2, SOS1 | 8.31 |
| 4 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, MAP2K1, PIK3CA | 6.89 |
| 5 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, MAP2K1, MAP2K2 | 6.44 |
| 6 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, MAP2K1, MAP2K2 | 6.44 |
| 7 | Capillary malformations, congenital | Enrichment | GNA11, GNAQ, PIK3CA | 6.04 |
| 8 | Melanoma, uveal | Enrichment | GNA11, GNAQ, PLCB4 | 5.74 |
| 9 | Gallbladder cancer | Enrichment | BRAF, CTNNB1, PIK3CA | 5.50 |
| 10 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA | 5.13 |
| 11 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA | 4.97 |
| 12 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS, PIK3CA | 4.71 |
| 13 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 4.69 |
| 14 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS, PRKAR1A | 4.69 |
| 15 | Immune system disease | Enrichment | CDC42, PIK3CD | 4.69 |
| 16 | Phakomatosis cesioflammea | Enrichment | GNA11, GNAQ | 4.69 |
| 17 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 4.21 |
| 18 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | GNA11, PIK3CA | 4.21 |
| 19 | Anastomosing haemangioma | Enrichment | GNA11, GNAQ | 4.21 |
| 20 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA | 3.91 |
| 21 | Craniopharyngioma | Enrichment | BRAF, CTNNB1 | 3.91 |
| 22 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA | 3.69 |
| 23 | Klippel-trenaunay-weber syndrome | Enrichment | GNAQ, PIK3CA | 3.52 |
| 24 | Adrenocortical carcinoma | Enrichment | CTNNB1, PRKAR1A | 3.52 |
| 25 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.52 |
| 26 | Bladder cancer | Enrichment | CTNNB1, HRAS, PIK3CA | 3.52 |
| 27 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 3.37 |
| 28 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS | 3.37 |
| 29 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 3.37 |
| 30 | Noonan syndrome 3 | Enrichment | HRAS, SOS1 | 3.37 |
| 31 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 3.37 |
| 32 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS | 3.37 |
| 33 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS | 3.25 |
| 34 | Colorectal cancer | Enrichment | AKT1, BRAF, CTNNB1, PIK3CA | 3.18 |
| 35 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 3.14 |
| 36 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 3.14 |
| 37 | Primary hyperaldosteronism | Enrichment | BRAF, GNAS | 3.14 |
| 38 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.14 |
| 39 | Ventricular septal defect | Enrichment | BRAF, RPS6KA3 | 3.14 |
| 40 | Type 2 diabetes mellitus | Enrichment | AKT2, IL6, TCF7L2 | 3.04 |
| 41 | Specific learning disability | Enrichment | MAPK1, RPS6KA3 | 2.96 |
| 42 | Meningioma | Enrichment | AKT1, PIK3CA | 2.88 |
| 43 | Arteriovenous malformations of the brain | Enrichment | BRAF, IL6 | 2.48 |
| 44 | Hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 2.35 |
| 45 | Anhidrosis, isolated, with normal sweat glands | Enrichment | ITPR2 | 2.34 |
| 46 | Macrodactyly | Enrichment | PIK3CA | 2.34 |
| 47 | Proteus syndrome | Enrichment | AKT1 | 2.34 |
| 48 | Hypocalciuric hypercalcemia, familial, type ii | Enrichment | GNA11 | 2.34 |
| 49 | Acrodysostosis 1 with or without hormone resistance | Enrichment | PRKAR1A | 2.34 |
| 50 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.34 |
| 51 | Noonan syndrome 4 | Enrichment | SOS1 | 2.34 |
| 52 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.34 |
| 53 | Carney complex, type 1 | Enrichment | PRKAR1A | 2.34 |
| 54 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.34 |
| 55 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.34 |
| 56 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.34 |
| 57 | Noonan syndrome 7 | Enrichment | BRAF | 2.34 |
| 58 | Leopard syndrome 3 | Enrichment | BRAF | 2.34 |
| 59 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.34 |
| 60 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.34 |
| 61 | Noonan syndrome 9 | Enrichment | SOS2 | 2.34 |
| 62 | Deafness, autosomal recessive 44 | Enrichment | ADCY1 | 2.34 |
| 63 | Sturge-weber syndrome | Enrichment | GNAQ | 2.34 |
| 64 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.34 |
| 65 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.34 |
| 66 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.34 |
| 67 | Spondylometaphyseal dysplasia with corneal dystrophy | Enrichment | PLCB3 | 2.34 |
| 68 | Immunodeficiency 92 | Enrichment | REL | 2.34 |
| 69 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.34 |
| 70 | Charcot-marie-tooth disease, demyelinating, type 1j | Enrichment | ITPR3 | 2.34 |
| 71 | Auriculocondylar syndrome 2a | Enrichment | PLCB4 | 2.34 |
| 72 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.34 |
| 73 | Myxoma, intracardiac | Enrichment | PRKAR1A | 2.34 |
| 74 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.34 |
| 75 | Lymphangioma | Enrichment | BRAF | 2.34 |
| 76 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.34 |
| 77 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.34 |
| 78 | Phace association | Enrichment | BRAF | 2.34 |
| 79 | Melorheostosis | Enrichment | MAP2K1 | 2.34 |
| 80 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.34 |
| 81 | Hypocalcemia, autosomal dominant 2 | Enrichment | GNA11 | 2.34 |
| 82 | Cowden syndrome 6 | Enrichment | AKT1 | 2.34 |
| 83 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.34 |
| 84 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.34 |
| 85 | Disorders of gnas inactivation | Enrichment | GNAS | 2.34 |
| 86 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.34 |
| 87 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.34 |
| 88 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.34 |
| 89 | Immunodeficiency 53 | Enrichment | RELB | 2.34 |
| 90 | Epilepsy, familial adult myoclonic, 7 | Enrichment | RAPGEF2 | 2.34 |
| 91 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.34 |
| 92 | Auriculocondylar syndrome 2b | Enrichment | PLCB4 | 2.34 |
| 93 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.34 |
| 94 | Hypospadias | Enrichment | PIK3CA | 2.34 |
| 95 | Capillary hemangioma | Enrichment | AKT3 | 2.34 |
| 96 | Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy | Enrichment | ITPR3 | 2.34 |
| 97 | Prkar1b-related neurodegenerative dementia with intermediate filaments | Enrichment | PRKAR1B | 2.34 |
| 98 | Rare venous malformation | Enrichment | PIK3CA | 2.34 |
| 99 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.34 |
| 100 | Nocarh syndrome | Enrichment | CDC42 | 2.34 |
| 101 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.34 |
| 102 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.34 |
| 103 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.34 |
| 104 | Ganglioglioma | Enrichment | BRAF | 2.34 |
| 105 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.34 |
| 106 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.34 |
| 107 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.34 |
| 108 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.34 |
| 109 | Phace syndrome | Enrichment | BRAF | 2.34 |
| 110 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.34 |
| 111 | Classic hairy cell leukemia | Enrichment | BRAF | 2.34 |
| 112 | Phakomatosis cesiomarmorata | Enrichment | GNA11 | 2.34 |
| 113 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.34 |
| 114 | Mazabraud syndrome | Enrichment | GNAS | 2.34 |
| 115 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.34 |
| 116 | Macrodactyly of toe | Enrichment | PIK3CA | 2.34 |
| 117 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.34 |
| 118 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.34 |
| 119 | Coffin-lowry syndrome | Enrichment | RPS6KA3 | 2.34 |
| 120 | Fetal encasement syndrome | Enrichment | CHUK | 2.34 |
| 121 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.34 |
| 122 | Immunodeficiency 15b | Enrichment | IKBKB | 2.34 |
| 123 | Immunodeficiency 15a | Enrichment | IKBKB | 2.34 |
| 124 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.34 |
| 125 | Intellectual developmental disorder, x-linked 19 | Enrichment | RPS6KA3 | 2.34 |
| 126 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.34 |
| 127 | Symptomatic form of coffin-lowry syndrome in female carriers | Enrichment | RPS6KA3 | 2.34 |
| 128 | Acute encephalopathy with biphasic seizures and late reduced diffusion | Enrichment | ADORA2A | 2.34 |
| 129 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.34 |
| 130 | Breast cancer | Enrichment | AKT1, PIK3CA, SHC1 | 2.31 |
| 131 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS | 2.11 |
| 132 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 2.04 |
| 133 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.04 |
| 134 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 2.04 |
| 135 | Costello syndrome | Enrichment | HRAS | 2.04 |
| 136 | Amelogenesis imperfecta, type ig | Enrichment | PRKAR1A | 2.04 |
| 137 | Cutis marmorata telangiectatica congenita | Enrichment | GNA11 | 2.04 |
| 138 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.04 |
| 139 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.04 |
| 140 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 2.04 |
| 141 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.04 |
| 142 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.04 |
| 143 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 2.04 |
| 144 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.04 |
| 145 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.04 |
| 146 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 2.04 |
| 147 | Marbach-schaaf neurodevelopmental syndrome | Enrichment | PRKAR1B | 2.04 |
| 148 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.04 |
| 149 | Usher syndrome, type iv | Enrichment | PRKAR1A | 2.04 |
| 150 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.04 |
| 151 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.04 |
| 152 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.04 |
| 153 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.04 |
| 154 | Autosomal dominant hypocalcemia | Enrichment | GNA11 | 2.04 |
| 155 | Acrodysostosis | Enrichment | PRKAR1A | 2.04 |
| 156 | Pseudohypoparathyroidism | Enrichment | GNAS | 2.04 |
| 157 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.04 |
| 158 | Ocular melanoma | Enrichment | PLCB4 | 2.04 |
| 159 | Ciliary dyskinesia, primary, 18 | Enrichment | PRKAR1B | 2.04 |
| 160 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.04 |
| 161 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.04 |
| 162 | Isolated primary pigmented nodular adrenocortical disease | Enrichment | PRKAR1A | 2.04 |
| 163 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 2.04 |
| 164 | Teratoma | Enrichment | CTNNB1 | 2.04 |
| 165 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.04 |
| 166 | Tafro syndrome | Enrichment | MAP2K2 | 2.04 |
| 167 | Wooly hair nevus | Enrichment | HRAS | 2.04 |
| 168 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.04 |
| 169 | Lethal congenital contracture syndrome 8 | Enrichment | ADCY6 | 2.04 |
| 170 | Ectodermal dysplasia and immune deficiency | Enrichment | NFKBIA | 2.04 |
| 171 | Lung cancer | Enrichment | BRAF, PIK3CA | 2.03 |
| 172 | Ovarian cancer | Enrichment | AKT1, CTNNB1, PIK3CA | 1.96 |
| 173 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.86 |
| 174 | Mccune-albright syndrome | Enrichment | GNAS | 1.86 |
| 175 | Ataxia-telangiectasia | Enrichment | BRAF | 1.86 |
| 176 | Gillespie syndrome | Enrichment | ITPR1 | 1.86 |
| 177 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.86 |
| 178 | Nuchal bleb, familial | Enrichment | SOS1 | 1.86 |
| 179 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.86 |
| 180 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD | 1.86 |
| 181 | Anus, imperforate | Enrichment | CTNNB1 | 1.86 |
| 182 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.86 |
| 183 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.86 |
| 184 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.86 |
| 185 | Desmoid tumor | Enrichment | CTNNB1 | 1.86 |
| 186 | Immunodeficiency 14 | Enrichment | PIK3CD | 1.86 |
| 187 | Spermatocytoma | Enrichment | HRAS | 1.86 |
| 188 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 1.86 |
| 189 | Melanoma of soft tissue | Enrichment | CREB1 | 1.86 |
| 190 | Keratoacanthoma | Enrichment | PIK3CA | 1.86 |
| 191 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 1.86 |
| 192 | Hypomyelination neuropathy-arthrogryposis syndrome | Enrichment | ADCY6 | 1.86 |
| 193 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 1.76 |
| 194 | Kaposi sarcoma | Enrichment | IL6 | 1.74 |
| 195 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.74 |
| 196 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.74 |
| 197 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.74 |
| 198 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.74 |
| 199 | Auriculocondylar syndrome 1 | Enrichment | PLCB4 | 1.74 |
| 200 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.74 |
| 201 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 1.74 |
| 202 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.74 |
| 203 | Pilomatrixoma | Enrichment | CTNNB1 | 1.74 |
| 204 | Carney complex variant | Enrichment | PRKAR1A | 1.74 |
| 205 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 1.74 |
| 206 | Arrhythmogenic right ventricular dysplasia, familial, 10 | Enrichment | PRKAR1A | 1.74 |
| 207 | Developmental and epileptic encephalopathy 12 | Enrichment | PLCB1 | 1.74 |
| 208 | Alazami syndrome | Enrichment | CTNNB1 | 1.74 |
| 209 | Cerebrovascular disease | Enrichment | PIK3CA | 1.74 |
| 210 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.74 |
| 211 | Noonan syndrome with multiple lentigines | Enrichment | BRAF | 1.74 |
| 212 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.74 |
| 213 | Epidermolytic nevus | Enrichment | HRAS | 1.74 |
| 214 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.74 |
| 215 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.74 |
| 216 | Gingival fibromatosis | Enrichment | SOS1 | 1.74 |
| 217 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.74 |
| 218 | Alzheimer disease 2 | Enrichment | NOS3 | 1.64 |
| 219 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.64 |
| 220 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.64 |
| 221 | Pre-eclampsia | Enrichment | NOS3 | 1.64 |
| 222 | Hypertelorism | Enrichment | PIK3CA, RPS6KA3 | 1.63 |
| 223 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.57 |
| 224 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.57 |
| 225 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.57 |
| 226 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.57 |
| 227 | Wilms tumor 5 | Enrichment | BRAF | 1.57 |
| 228 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 1.57 |
| 229 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.57 |
| 230 | Brachydactyly | Enrichment | GNAS | 1.50 |
| 231 | Pilomyxoid astrocytoma | Enrichment | BRAF | 1.50 |
| 232 | Megacolon | Enrichment | AKT3 | 1.50 |
| 233 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.44 |
| 234 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.44 |
| 235 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.44 |
| 236 | Gastroesophageal reflux | Enrichment | RPS6KA3 | 1.44 |
| 237 | Orthostatic intolerance | Enrichment | RPS6KA3 | 1.44 |
| 238 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.44 |
| 239 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.39 |
| 240 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.39 |
| 241 | Developmental and epileptic encephalopathy 14 | Enrichment | PLCB1 | 1.39 |
| 242 | Stroke, ischemic | Enrichment | NOS3 | 1.35 |
| 243 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.35 |
| 244 | Polymicrogyria | Enrichment | AKT3 | 1.35 |
| 245 | Melanoma | Enrichment | BRAF | 1.35 |
| 246 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD | 1.35 |
| 247 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.31 |
| 248 | Congenital long qt syndrome | Enrichment | ITPR3 | 1.27 |
| 249 | Aortic valve disease 1 | Enrichment | SOS1 | 1.24 |
| 250 | Acute promyelocytic leukemia | Enrichment | PRKAR1A | 1.24 |
| 251 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.24 |
| 252 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.24 |
| 253 | Multiple sclerosis | Enrichment | ITPR1 | 1.21 |
| 254 | Medulloblastoma | Enrichment | CTNNB1 | 1.21 |
| 255 | Lung cancer susceptibility 3 | Enrichment | BRAF | 1.21 |
| 256 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.21 |
| 257 | Wilms tumor 1 | Enrichment | BRAF | 1.18 |
| 258 | Anterior segment dysgenesis | Enrichment | ITPR1 | 1.18 |
| 259 | Lynch syndrome | Enrichment | PIK3CA | 1.18 |
| 260 | Rhabdomyosarcoma | Enrichment | HRAS | 1.15 |
| 261 | Gliosarcoma | Enrichment | NFKBIA | 1.15 |
| 262 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 1.13 |
| 263 | Hypertension, essential | Enrichment | NOS3 | 1.13 |
| 264 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.13 |
| 265 | Dandy-walker syndrome | Enrichment | BRAF | 1.13 |
| 266 | Polycystic liver disease | Enrichment | CTNNB1 | 1.13 |
| 267 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.13 |
| 268 | Giant cell glioblastoma | Enrichment | NFKBIA | 1.13 |
| 269 | Heart, malformation of | Enrichment | MAPK1 | 1.10 |
| 270 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 1.08 |
| 271 | Endometrial cancer | Enrichment | PIK3CA | 1.04 |
| 272 | Hepatoblastoma | Enrichment | CTNNB1 | 1.04 |
| 273 | Microcephaly | Enrichment | CTNNB1, MAPK1 | 0.96 |
| 274 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.95 |
| 275 | Prostate cancer | Enrichment | PIK3CA | 0.90 |
| 276 | Long qt syndrome 1 | Enrichment | ITPR3 | 0.89 |
| 277 | Non-immune hydrops fetalis | Enrichment | HRAS | 0.88 |
| 278 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.85 |
| 279 | Non-syndromic x-linked intellectual disability | Enrichment | RPS6KA3 | 0.82 |
| 280 | Benign epilepsy with centrotemporal spikes | Enrichment | PLCB1 | 0.77 |
| 281 | Centralopathic epilepsy | Enrichment | PLCB1 | 0.75 |
| 282 | Gastric cancer | Enrichment | PIK3CA | 0.75 |
| 283 | West syndrome | Enrichment | PLCB1 | 0.74 |
| 284 | Body mass index quantitative trait locus 11 | Enrichment | GNAS | 0.69 |
| 285 | Spastic ataxia | Enrichment | ITPR1 | 0.67 |
| 286 | Myeloma, multiple | Enrichment | BRAF | 0.64 |
| 287 | Primary ovarian insufficiency | Enrichment | NOS3 | 0.62 |
| 288 | Autism | Enrichment | TCF7L2 | 0.55 |
| 289 | Primary ciliary dyskinesia | Enrichment | PRKAR1B | 0.53 |
| 290 | Dilated cardiomyopathy | Enrichment | BRAF | 0.51 |
| 291 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | ADCY1 | 0.47 |
| 292 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.41 |
| 293 | Nervous system disease | Enrichment | CTNNB1 | 0.41 |
| 294 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.40 |
| 295 | Complex neurodevelopmental disorder | Enrichment | TCF7L2 | 0.36 |
| 296 | Inherited cancer-predisposing syndrome | Enrichment | PRKAR1A | 0.34 |