| 1 | Rasopathy | Enrichment | CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS2 | 16.00 |
| 2 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS, PIK3CA | 11.65 |
| 3 | Noonan syndrome 1 | Enrichment | CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS2 | 11.32 |
| 4 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1 | 10.80 |
| 5 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 8.69 |
| 6 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1, PIK3CA, RASA1 | 8.69 |
| 7 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1, SOS1 | 8.69 |
| 8 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA, RASA1 | 8.14 |
| 9 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA, RASA1 | 7.92 |
| 10 | Bladder cancer | Enrichment | EGFR, ERBB2, HRAS, KRAS, PIK3CA | 7.77 |
| 11 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 7.55 |
| 12 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA, PTEN | 7.15 |
| 13 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.06 |
| 14 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS, MAP2K1, MAP2K2 | 7.06 |
| 15 | Cardiofaciocutaneous syndrome | Enrichment | KRAS, MAP2K1, MAP2K2 | 7.06 |
| 16 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA, PTEN | 6.85 |
| 17 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS, PIK3CA | 6.36 |
| 18 | Cowden syndrome | Enrichment | AKT1, PIK3CA, PTEN | 6.23 |
| 19 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS, RAF1 | 5.91 |
| 20 | Ovarian cancer | Enrichment | AKT1, EGFR, ERBB2, PIK3CA, PTEN | 5.83 |
| 21 | Meningioma | Enrichment | AKT1, PIK3CA, PTEN | 5.82 |
| 22 | Lung cancer | Enrichment | EGFR, ERBB2, KRAS, PIK3CA | 5.70 |
| 23 | Juvenile myelomonocytic leukemia | Enrichment | CBL, KRAS, NRAS | 5.32 |
| 24 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS, PIK3CA | 5.32 |
| 25 | Lung cancer susceptibility 3 | Enrichment | EGFR, ERBB2, KRAS | 5.11 |
| 26 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.09 |
| 27 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS, PRKAR1A | 4.95 |
| 28 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.94 |
| 29 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.94 |
| 30 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.94 |
| 31 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 4.64 |
| 32 | Langerhans cell histiocytosis | Enrichment | MAP2K1, NRAS | 4.62 |
| 33 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.62 |
| 34 | Colorectal cancer | Enrichment | AKT1, ERBB2, PIK3CA, PIK3R1 | 4.61 |
| 35 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.32 |
| 36 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 4.24 |
| 37 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 4.12 |
| 38 | Type 2 diabetes mellitus | Enrichment | AKT2, IRS1, IRS2 | 4.12 |
| 39 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, PTEN | 4.10 |
| 40 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 4.10 |
| 41 | Gastric cancer | Enrichment | ERBB2, PIK3CA, PTEN | 4.08 |
| 42 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA, PTEN | 4.05 |
| 43 | Primary hypereosinophilic syndrome | Enrichment | PDGFRA, PDGFRB | 3.95 |
| 44 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 3.92 |
| 45 | Adult hepatocellular carcinoma | Enrichment | EGF, PIK3CA | 3.87 |
| 46 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 3.78 |
| 47 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.78 |
| 48 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 3.78 |
| 49 | Pilomyxoid astrocytoma | Enrichment | KRAS, RAF1 | 3.78 |
| 50 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 3.78 |
| 51 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.77 |
| 52 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 3.51 |
| 53 | Breast cancer | Enrichment | AKT1, PIK3CA, PTEN | 3.36 |
| 54 | Rhabdomyosarcoma | Enrichment | CBL, PTEN | 3.35 |
| 55 | Endometrial cancer | Enrichment | PIK3CA, PTEN | 3.11 |
| 56 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 3.08 |
| 57 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1, SOS1 | 3.00 |
| 58 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 2.87 |
| 59 | Prostate cancer | Enrichment | PIK3CA, PTEN | 2.82 |
| 60 | Macrodactyly | Enrichment | PIK3CA | 2.70 |
| 61 | Proteus syndrome | Enrichment | AKT1 | 2.70 |
| 62 | Paget disease, extramammary | Enrichment | ERBB2 | 2.70 |
| 63 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.70 |
| 64 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.70 |
| 65 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.70 |
| 66 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.70 |
| 67 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.70 |
| 68 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.70 |
| 69 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.70 |
| 70 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.70 |
| 71 | Short syndrome | Enrichment | PIK3R1 | 2.70 |
| 72 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.70 |
| 73 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.70 |
| 74 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.70 |
| 75 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.70 |
| 76 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.70 |
| 77 | Cowden syndrome 6 | Enrichment | AKT1 | 2.70 |
| 78 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.70 |
| 79 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.70 |
| 80 | Glioma susceptibility 2 | Enrichment | PTEN | 2.70 |
| 81 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.70 |
| 82 | Hypospadias | Enrichment | PIK3CA | 2.70 |
| 83 | Capillary hemangioma | Enrichment | AKT3 | 2.70 |
| 84 | Rare venous malformation | Enrichment | PIK3CA | 2.70 |
| 85 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.70 |
| 86 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.70 |
| 87 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.70 |
| 88 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.70 |
| 89 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.70 |
| 90 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.70 |
| 91 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.70 |
| 92 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.70 |
| 93 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.70 |
| 94 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.70 |
| 95 | Macrodactyly of toe | Enrichment | PIK3CA | 2.70 |
| 96 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.70 |
| 97 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.70 |
| 98 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.54 |
| 99 | Oculoectodermal syndrome | Enrichment | KRAS | 2.54 |
| 100 | Noonan syndrome 5 | Enrichment | RAF1 | 2.54 |
| 101 | Noonan syndrome 4 | Enrichment | SOS1 | 2.54 |
| 102 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.54 |
| 103 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.54 |
| 104 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.54 |
| 105 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.54 |
| 106 | Noonan syndrome 9 | Enrichment | SOS2 | 2.54 |
| 107 | Noonan syndrome 6 | Enrichment | NRAS | 2.54 |
| 108 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.54 |
| 109 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.54 |
| 110 | Melorheostosis | Enrichment | MAP2K1 | 2.54 |
| 111 | Leopard syndrome 2 | Enrichment | RAF1 | 2.54 |
| 112 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.54 |
| 113 | Deafness, autosomal recessive 102 | Enrichment | EPS8 | 2.54 |
| 114 | Trigonitis | Enrichment | RAF1 | 2.54 |
| 115 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.54 |
| 116 | Gorham's disease | Enrichment | RASA1 | 2.54 |
| 117 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.54 |
| 118 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.54 |
| 119 | Anhidrosis, isolated, with normal sweat glands | Enrichment | ITPR2 | 2.47 |
| 120 | Acrodysostosis 1 with or without hormone resistance | Enrichment | PRKAR1A | 2.47 |
| 121 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.47 |
| 122 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.47 |
| 123 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 2.47 |
| 124 | Carney complex, type 1 | Enrichment | PRKAR1A | 2.47 |
| 125 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.47 |
| 126 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.47 |
| 127 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.47 |
| 128 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.47 |
| 129 | Gist-plus syndrome | Enrichment | PDGFRA | 2.47 |
| 130 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.47 |
| 131 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.47 |
| 132 | Charcot-marie-tooth disease, demyelinating, type 1j | Enrichment | ITPR3 | 2.47 |
| 133 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.47 |
| 134 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 2.47 |
| 135 | Myxoma, intracardiac | Enrichment | PRKAR1A | 2.47 |
| 136 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.47 |
| 137 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.47 |
| 138 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.47 |
| 139 | Disorders of gnas inactivation | Enrichment | GNAS | 2.47 |
| 140 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.47 |
| 141 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.47 |
| 142 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.47 |
| 143 | Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy | Enrichment | ITPR3 | 2.47 |
| 144 | Prkar1b-related neurodegenerative dementia with intermediate filaments | Enrichment | PRKAR1B | 2.47 |
| 145 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.47 |
| 146 | Mazabraud syndrome | Enrichment | GNAS | 2.47 |
| 147 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.45 |
| 148 | Ovarian germ cell cancer | Enrichment | CBL | 2.40 |
| 149 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.40 |
| 150 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.40 |
| 151 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.40 |
| 152 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.40 |
| 153 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.40 |
| 154 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.40 |
| 155 | Immune system disease | Enrichment | PIK3CD | 2.40 |
| 156 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.40 |
| 157 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.40 |
| 158 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.40 |
| 159 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.40 |
| 160 | Burkitt lymphoma | Enrichment | MYC | 2.24 |
| 161 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.24 |
| 162 | Costello syndrome | Enrichment | HRAS | 2.24 |
| 163 | Pulmonic stenosis | Enrichment | SOS1 | 2.24 |
| 164 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.24 |
| 165 | Tafro syndrome | Enrichment | MAP2K2 | 2.24 |
| 166 | Wooly hair nevus | Enrichment | HRAS | 2.24 |
| 167 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 2.23 |
| 168 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.22 |
| 169 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.22 |
| 170 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 2.22 |
| 171 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.22 |
| 172 | Keratoacanthoma | Enrichment | PIK3CA | 2.22 |
| 173 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 2.17 |
| 174 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.17 |
| 175 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 2.17 |
| 176 | Amelogenesis imperfecta, type ig | Enrichment | PRKAR1A | 2.17 |
| 177 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 2.17 |
| 178 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 2.17 |
| 179 | Marbach-schaaf neurodevelopmental syndrome | Enrichment | PRKAR1B | 2.17 |
| 180 | Usher syndrome, type iv | Enrichment | PRKAR1A | 2.17 |
| 181 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.17 |
| 182 | Acrodysostosis | Enrichment | PRKAR1A | 2.17 |
| 183 | Pseudohypoparathyroidism | Enrichment | GNAS | 2.17 |
| 184 | Body mass index quantitative trait locus 19 | Enrichment | ADCY3 | 2.17 |
| 185 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.17 |
| 186 | Ciliary dyskinesia, primary, 18 | Enrichment | PRKAR1B | 2.17 |
| 187 | Isolated primary pigmented nodular adrenocortical disease | Enrichment | PRKAR1A | 2.17 |
| 188 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 2.17 |
| 189 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 2.17 |
| 190 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 2.17 |
| 191 | Barrett esophagus | Enrichment | ERBB2 | 2.10 |
| 192 | Cerebrovascular disease | Enrichment | PIK3CA | 2.10 |
| 193 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL | 2.10 |
| 194 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.10 |
| 195 | Glioma | Enrichment | PTEN | 2.10 |
| 196 | Nuchal bleb, familial | Enrichment | SOS1 | 2.07 |
| 197 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.07 |
| 198 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 2.07 |
| 199 | Spermatocytoma | Enrichment | HRAS | 2.07 |
| 200 | Macrocephaly/autism syndrome | Enrichment | PTEN | 2.00 |
| 201 | Myeloproliferative neoplasm | Enrichment | CBL | 2.00 |
| 202 | Hemangioma | Enrichment | PTEN | 2.00 |
| 203 | Acute megakaryocytic leukemia | Enrichment | PTEN | 2.00 |
| 204 | Aggressive systemic mastocytosis | Enrichment | CBL | 2.00 |
| 205 | Mccune-albright syndrome | Enrichment | GNAS | 1.99 |
| 206 | Gillespie syndrome | Enrichment | ITPR1 | 1.99 |
| 207 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 1.99 |
| 208 | Myeloma, multiple | Enrichment | KRAS, PIK3R2 | 1.95 |
| 209 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.94 |
| 210 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.94 |
| 211 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.94 |
| 212 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.94 |
| 213 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.94 |
| 214 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.94 |
| 215 | Pilocytic astrocytoma | Enrichment | KRAS | 1.94 |
| 216 | Epidermolytic nevus | Enrichment | HRAS | 1.94 |
| 217 | Gingival fibromatosis | Enrichment | SOS1 | 1.94 |
| 218 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.94 |
| 219 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.92 |
| 220 | Body mass index quantitative trait locus 11 | Enrichment | ADCY3, GNAS | 1.91 |
| 221 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.87 |
| 222 | Carney complex variant | Enrichment | PRKAR1A | 1.87 |
| 223 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 1.87 |
| 224 | Arrhythmogenic right ventricular dysplasia, familial, 10 | Enrichment | PRKAR1A | 1.87 |
| 225 | Megacolon | Enrichment | AKT3 | 1.86 |
| 226 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.86 |
| 227 | Histiocytoid hemangioma | Enrichment | FOS | 1.84 |
| 228 | Glioma susceptibility 1 | Enrichment | ERBB2 | 1.80 |
| 229 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.80 |
| 230 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.77 |
| 231 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.77 |
| 232 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.77 |
| 233 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.75 |
| 234 | Polymicrogyria | Enrichment | AKT3 | 1.70 |
| 235 | Melanoma | Enrichment | PTEN | 1.70 |
| 236 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.70 |
| 237 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 1.70 |
| 238 | Adrenocortical carcinoma | Enrichment | PRKAR1A | 1.70 |
| 239 | Meningioma, familial | Enrichment | PTEN | 1.66 |
| 240 | Uterine corpus cancer | Enrichment | PTEN | 1.66 |
| 241 | Gastrointestinal stromal tumor | Enrichment | PDGFRA | 1.63 |
| 242 | Brachydactyly | Enrichment | GNAS | 1.63 |
| 243 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.59 |
| 244 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.57 |
| 245 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, PTEN | 1.55 |
| 246 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.52 |
| 247 | Primary hyperaldosteronism | Enrichment | GNAS | 1.52 |
| 248 | Specific learning disability | Enrichment | MAPK1 | 1.51 |
| 249 | Gliosarcoma | Enrichment | EGFR | 1.50 |
| 250 | Giant cell glioblastoma | Enrichment | EGFR | 1.48 |
| 251 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.44 |
| 252 | Aortic valve disease 1 | Enrichment | SOS1 | 1.43 |
| 253 | Protein-deficiency anemia | Enrichment | NRAS | 1.43 |
| 254 | Diffuse large b-cell lymphoma | Enrichment | PTEN | 1.43 |
| 255 | Congenital long qt syndrome | Enrichment | ITPR3 | 1.40 |
| 256 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.37 |
| 257 | Acute promyelocytic leukemia | Enrichment | PRKAR1A | 1.36 |
| 258 | Multiple sclerosis | Enrichment | ITPR1 | 1.33 |
| 259 | Cleft lip/palate | Enrichment | PDGFRA | 1.33 |
| 260 | Hydrocephalus | Enrichment | PDGFRB | 1.30 |
| 261 | Anterior segment dysgenesis | Enrichment | ITPR1 | 1.30 |
| 262 | Heart, malformation of | Enrichment | MAPK1 | 1.30 |
| 263 | Dandy-walker syndrome | Enrichment | PDGFRB | 1.25 |
| 264 | Hirschsprung disease 1 | Enrichment | ERBB2 | 1.25 |
| 265 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 1.19 |
| 266 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.18 |
| 267 | Pancreatic cancer | Enrichment | KRAS | 1.16 |
| 268 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.14 |
| 269 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.04 |
| 270 | Left ventricular noncompaction | Enrichment | RAF1 | 1.02 |
| 271 | Long qt syndrome 1 | Enrichment | ITPR3 | 1.01 |
| 272 | Hypertelorism | Enrichment | PIK3CA | 1.01 |
| 273 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN | 0.98 |
| 274 | Cerebral palsy | Enrichment | PDGFRB | 0.91 |
| 275 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.85 |
| 276 | Spastic ataxia | Enrichment | ITPR1 | 0.78 |
| 277 | Deafness, autosomal recessive | Enrichment | EPS8 | 0.78 |
| 278 | Autosomal recessive nonsyndromic deafness | Enrichment | EPS8 | 0.77 |
| 279 | Congenital nervous system abnormality | Enrichment | PTEN | 0.72 |
| 280 | Nervous system disease | Enrichment | PTEN | 0.72 |
| 281 | Autism spectrum disorder | Enrichment | PTEN | 0.71 |
| 282 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.69 |
| 283 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | EPS8 | 0.64 |
| 284 | Primary ciliary dyskinesia | Enrichment | PRKAR1B | 0.64 |
| 285 | Microcephaly | Enrichment | MAPK1 | 0.52 |