| 1 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2, HRAS, KRAS, NRAS, PIK3CA | 10.60 |
| 2 | Bladder cancer | Enrichment | EGFR, ERBB2, ERBB3, HRAS, KRAS, PIK3CA | 9.08 |
| 3 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 8.25 |
| 4 | Colorectal cancer | Enrichment | AKT1, ERBB2, NRAS, PIK3CA, PIK3R1, PTPN12, SRC | 7.55 |
| 5 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 6.73 |
| 6 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS, SOS1 | 6.66 |
| 7 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA | 6.03 |
| 8 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS, PIK3CA | 6.03 |
| 9 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS, SOS1 | 5.86 |
| 10 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 5.79 |
| 11 | Rasopathy | Enrichment | HRAS, KRAS, NRAS, SOS1 | 5.64 |
| 12 | Hirschsprung disease 1 | Enrichment | ERBB2, ERBB3, NRG3 | 5.61 |
| 13 | Lung cancer | Enrichment | EGFR, ERBB2, KRAS, PIK3CA | 5.26 |
| 14 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS, PIK3CA | 4.99 |
| 15 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.88 |
| 16 | Lung cancer susceptibility 3 | Enrichment | EGFR, ERBB2, KRAS | 4.78 |
| 17 | Ovarian cancer | Enrichment | AKT1, EGFR, ERBB2, KRAS, PIK3CA | 4.47 |
| 18 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.40 |
| 19 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.40 |
| 20 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA | 4.10 |
| 21 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.10 |
| 22 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA | 3.88 |
| 23 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 3.79 |
| 24 | Breast cancer | Enrichment | AKT1, KRAS, PIK3CA, SHC1 | 3.79 |
| 25 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 3.70 |
| 26 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.70 |
| 27 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 3.56 |
| 28 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 3.56 |
| 29 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.56 |
| 30 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 3.56 |
| 31 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 3.56 |
| 32 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 3.43 |
| 33 | Erythroleukemia, familial | Enrichment | ERBB3 | 3.43 |
| 34 | Paget disease, extramammary | Enrichment | ERBB2 | 3.43 |
| 35 | Lethal congenital contracture syndrome 2 | Enrichment | ERBB3 | 3.43 |
| 36 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 3.43 |
| 37 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 3.43 |
| 38 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 3.33 |
| 39 | Adult hepatocellular carcinoma | Enrichment | EGF, PIK3CA | 3.33 |
| 40 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.33 |
| 41 | Gastric cancer | Enrichment | ERBB2, KRAS, PIK3CA | 3.28 |
| 42 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PIK3CA | 3.25 |
| 43 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 3.23 |
| 44 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | ERBB3 | 3.13 |
| 45 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 3.07 |
| 46 | Meningioma | Enrichment | AKT1, PIK3CA | 3.07 |
| 47 | Proteus syndrome | Enrichment | AKT1 | 3.02 |
| 48 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 3.02 |
| 49 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 3.02 |
| 50 | Cowden syndrome 6 | Enrichment | AKT1 | 3.02 |
| 51 | Autosomal recessive spastic paraplegia type 59 | Enrichment | USP8 | 3.02 |
| 52 | Capillary hemangioma | Enrichment | AKT3 | 3.02 |
| 53 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 3.02 |
| 54 | Hypomagnesemia 4, renal | Enrichment | EGF | 3.02 |
| 55 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 3.02 |
| 56 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 3.02 |
| 57 | Deafness, autosomal dominant 1, with or without thrombocytopenia | Enrichment | DIAPH1 | 2.96 |
| 58 | Seizures, cortical blindness, and microcephaly syndrome | Enrichment | DIAPH1 | 2.96 |
| 59 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.96 |
| 60 | Diaph1-related sensorineural hearing loss-thrombocytopenia syndrome | Enrichment | DIAPH1 | 2.96 |
| 61 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.96 |
| 62 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 2.87 |
| 63 | Barrett esophagus | Enrichment | ERBB2 | 2.83 |
| 64 | Pituitary adenoma 4, acth-secreting | Enrichment | USP8 | 2.72 |
| 65 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.72 |
| 66 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.72 |
| 67 | Submucosal cleft palate | Enrichment | UBB | 2.72 |
| 68 | Cleft hard palate | Enrichment | UBB | 2.72 |
| 69 | Autosomal dominant combined immunodeficiency due to erbin deficiency | Enrichment | ERBIN | 2.67 |
| 70 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 2.66 |
| 71 | Uvula, bifid | Enrichment | UBB | 2.54 |
| 72 | Cleft soft palate | Enrichment | UBB | 2.54 |
| 73 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.54 |
| 74 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.54 |
| 75 | Glioma susceptibility 1 | Enrichment | ERBB2 | 2.53 |
| 76 | Macrodactyly | Enrichment | PIK3CA | 2.43 |
| 77 | Oculoectodermal syndrome | Enrichment | KRAS | 2.43 |
| 78 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.43 |
| 79 | Noonan syndrome 4 | Enrichment | SOS1 | 2.43 |
| 80 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.43 |
| 81 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.43 |
| 82 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.43 |
| 83 | Noonan syndrome 6 | Enrichment | NRAS | 2.43 |
| 84 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.43 |
| 85 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.43 |
| 86 | Short syndrome | Enrichment | PIK3R1 | 2.43 |
| 87 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.43 |
| 88 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.43 |
| 89 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.43 |
| 90 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.43 |
| 91 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.43 |
| 92 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.43 |
| 93 | Thrombocytopenia 6 | Enrichment | SRC | 2.43 |
| 94 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.43 |
| 95 | Hypospadias | Enrichment | PIK3CA | 2.43 |
| 96 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.43 |
| 97 | Rare venous malformation | Enrichment | PIK3CA | 2.43 |
| 98 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.43 |
| 99 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.43 |
| 100 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.43 |
| 101 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.43 |
| 102 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.43 |
| 103 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.43 |
| 104 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.43 |
| 105 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.43 |
| 106 | Macrodactyly of toe | Enrichment | PIK3CA | 2.43 |
| 107 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.43 |
| 108 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 2.42 |
| 109 | Spinocerebellar ataxia 48 | Enrichment | STUB1 | 2.37 |
| 110 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.24 |
| 111 | Moyamoya disease 1 | Enrichment | DIAPH1 | 2.18 |
| 112 | Pendred syndrome | Enrichment | DIAPH1 | 2.18 |
| 113 | Megacolon | Enrichment | AKT3 | 2.17 |
| 114 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 2.17 |
| 115 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.13 |
| 116 | Costello syndrome | Enrichment | HRAS | 2.13 |
| 117 | Pulmonic stenosis | Enrichment | SOS1 | 2.13 |
| 118 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.13 |
| 119 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.13 |
| 120 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.13 |
| 121 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.13 |
| 122 | Wooly hair nevus | Enrichment | HRAS | 2.13 |
| 123 | Primary hyperaldosteronism | Enrichment | USP8 | 2.07 |
| 124 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 2.02 |
| 125 | Polymicrogyria | Enrichment | AKT3 | 2.02 |
| 126 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.96 |
| 127 | Nuchal bleb, familial | Enrichment | SOS1 | 1.96 |
| 128 | Langerhans cell histiocytosis | Enrichment | NRAS | 1.96 |
| 129 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.96 |
| 130 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.96 |
| 131 | Spermatocytoma | Enrichment | HRAS | 1.96 |
| 132 | Keratoacanthoma | Enrichment | PIK3CA | 1.96 |
| 133 | Nk-cell enteropathy | Enrichment | ERBB4 | 1.91 |
| 134 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | STUB1 | 1.89 |
| 135 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 1.83 |
| 136 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.83 |
| 137 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 1.83 |
| 138 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.83 |
| 139 | Cerebrovascular disease | Enrichment | PIK3CA | 1.83 |
| 140 | Pilocytic astrocytoma | Enrichment | KRAS | 1.83 |
| 141 | Epidermolytic nevus | Enrichment | HRAS | 1.83 |
| 142 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.83 |
| 143 | Gingival fibromatosis | Enrichment | SOS1 | 1.83 |
| 144 | Gliosarcoma | Enrichment | EGFR | 1.82 |
| 145 | Giant cell glioblastoma | Enrichment | EGFR | 1.79 |
| 146 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.74 |
| 147 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.66 |
| 148 | Myelofibrosis | Enrichment | SRC | 1.59 |
| 149 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.59 |
| 150 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.59 |
| 151 | Auditory neuropathy | Enrichment | DIAPH1 | 1.55 |
| 152 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.44 |
| 153 | Type 2 diabetes mellitus | Enrichment | AKT2 | 1.40 |
| 154 | Epilepsy | Enrichment | DIAPH1 | 1.36 |
| 155 | Aortic valve disease 1 | Enrichment | SOS1 | 1.33 |
| 156 | Protein-deficiency anemia | Enrichment | NRAS | 1.33 |
| 157 | Autosomal dominant non-syndromic intellectual disability | Enrichment | ERBB4 | 1.33 |
| 158 | Osteoporosis | Enrichment | SRC | 1.30 |
| 159 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.30 |
| 160 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4 | 1.27 |
| 161 | Rhabdomyosarcoma | Enrichment | HRAS | 1.24 |
| 162 | Endometrial cancer | Enrichment | PIK3CA | 1.13 |
| 163 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.11 |
| 164 | Rare genetic deafness | Enrichment | DIAPH1 | 1.08 |
| 165 | Pancreatic cancer | Enrichment | KRAS | 1.05 |
| 166 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.04 |
| 167 | Prostate cancer | Enrichment | PIK3CA | 0.99 |
| 168 | Inherited cancer-predisposing syndrome | Enrichment | EGFR | 0.92 |
| 169 | Microcephaly | Enrichment | DIAPH1 | 0.89 |
| 170 | Thrombocytopenia | Enrichment | SRC | 0.79 |
| 171 | Hypertelorism | Enrichment | PIK3CA | 0.76 |
| 172 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.73 |
| 173 | Myeloma, multiple | Enrichment | KRAS | 0.73 |