| 1 | Bladder cancer | Enrichment | EGFR, ERBB2, ERBB3, HRAS, KRAS, PIK3CA | 16.00 |
| 2 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2, HRAS, KRAS, NRAS, PIK3CA | 16.00 |
| 3 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 10.18 |
| 4 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS, SOS1 | 9.45 |
| 5 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 8.80 |
| 6 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS, SOS1 | 8.68 |
| 7 | Rasopathy | Enrichment | HRAS, KRAS, NRAS, SOS1 | 8.46 |
| 8 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 7.86 |
| 9 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS, PIK3CA | 7.57 |
| 10 | Lung cancer | Enrichment | EGFR, ERBB2, KRAS, PIK3CA | 7.34 |
| 11 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS, PIK3CA | 6.53 |
| 12 | Lung cancer susceptibility 3 | Enrichment | EGFR, ERBB2, KRAS | 6.31 |
| 13 | Colorectal cancer | Enrichment | ERBB2, NRAS, PIK3CA, PIK3R1, PTPN12 | 6.24 |
| 14 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 6.22 |
| 15 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 5.84 |
| 16 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 5.83 |
| 17 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 5.75 |
| 18 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 5.45 |
| 19 | Hirschsprung disease 1 | Enrichment | ERBB2, ERBB3, NRG3 | 5.32 |
| 20 | Ovarian cancer | Enrichment | EGFR, ERBB2, KRAS, PIK3CA | 5.31 |
| 21 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 4.90 |
| 22 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.90 |
| 23 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 4.90 |
| 24 | Gastric cancer | Enrichment | ERBB2, KRAS, PIK3CA | 4.79 |
| 25 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 4.78 |
| 26 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 4.71 |
| 27 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA | 4.71 |
| 28 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 4.56 |
| 29 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 4.56 |
| 30 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 4.41 |
| 31 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 4.33 |
| 32 | Adult hepatocellular carcinoma | Enrichment | EGF, PIK3CA | 4.33 |
| 33 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 4.23 |
| 34 | Breast cancer | Enrichment | KRAS, PIK3CA, SHC1 | 4.06 |
| 35 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 3.87 |
| 36 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 3.66 |
| 37 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 3.56 |
| 38 | Paget disease, extramammary | Enrichment | ERBB2 | 3.53 |
| 39 | Hypomagnesemia 4, renal | Enrichment | EGF | 3.53 |
| 40 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 3.53 |
| 41 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 3.53 |
| 42 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 3.53 |
| 43 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 3.53 |
| 44 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 3.34 |
| 45 | Macrodactyly | Enrichment | PIK3CA | 3.13 |
| 46 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 3.13 |
| 47 | Cowden syndrome 5 | Enrichment | PIK3CA | 3.13 |
| 48 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 3.13 |
| 49 | Short syndrome | Enrichment | PIK3R1 | 3.13 |
| 50 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 3.13 |
| 51 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 3.13 |
| 52 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 3.13 |
| 53 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 3.13 |
| 54 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 3.13 |
| 55 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 3.13 |
| 56 | Hypospadias | Enrichment | PIK3CA | 3.13 |
| 57 | Rare venous malformation | Enrichment | PIK3CA | 3.13 |
| 58 | Diaphragmatic eventration | Enrichment | PIK3CA | 3.13 |
| 59 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 3.13 |
| 60 | Rare combined vascular malformation | Enrichment | PIK3CA | 3.13 |
| 61 | Cavernous lymphangioma | Enrichment | PIK3CA | 3.13 |
| 62 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 3.13 |
| 63 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 3.13 |
| 64 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 3.13 |
| 65 | Macrodactyly of toe | Enrichment | PIK3CA | 3.13 |
| 66 | Oculoectodermal syndrome | Enrichment | KRAS | 3.09 |
| 67 | Noonan syndrome 4 | Enrichment | SOS1 | 3.09 |
| 68 | Melanosis, neurocutaneous | Enrichment | NRAS | 3.09 |
| 69 | Noonan syndrome 6 | Enrichment | NRAS | 3.09 |
| 70 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 3.09 |
| 71 | Congenital pulmonary airway malformation | Enrichment | KRAS | 3.09 |
| 72 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 3.09 |
| 73 | Autosomal dominant combined immunodeficiency due to erbin deficiency | Enrichment | ERBIN | 3.09 |
| 74 | Neurocutaneous melanocytosis | Enrichment | NRAS | 3.09 |
| 75 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 3.05 |
| 76 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 3.05 |
| 77 | Barrett esophagus | Enrichment | ERBB2 | 2.93 |
| 78 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.93 |
| 79 | Erythroleukemia, familial | Enrichment | ERBB3 | 2.93 |
| 80 | Lethal congenital contracture syndrome 2 | Enrichment | ERBB3 | 2.93 |
| 81 | Hereditary breast carcinoma | Enrichment | KRAS, PIK3CA | 2.92 |
| 82 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.83 |
| 83 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.83 |
| 84 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.83 |
| 85 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.79 |
| 86 | Costello syndrome | Enrichment | HRAS | 2.79 |
| 87 | Pulmonic stenosis | Enrichment | SOS1 | 2.79 |
| 88 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.79 |
| 89 | Wooly hair nevus | Enrichment | HRAS | 2.79 |
| 90 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.79 |
| 91 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 2.69 |
| 92 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.66 |
| 93 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.66 |
| 94 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.66 |
| 95 | Keratoacanthoma | Enrichment | PIK3CA | 2.66 |
| 96 | Glioma susceptibility 1 | Enrichment | ERBB2 | 2.63 |
| 97 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | ERBB3 | 2.63 |
| 98 | Nuchal bleb, familial | Enrichment | SOS1 | 2.61 |
| 99 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.61 |
| 100 | Spermatocytoma | Enrichment | HRAS | 2.61 |
| 101 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.53 |
| 102 | Cerebrovascular disease | Enrichment | PIK3CA | 2.53 |
| 103 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.53 |
| 104 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.49 |
| 105 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.49 |
| 106 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.49 |
| 107 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.49 |
| 108 | Pilocytic astrocytoma | Enrichment | KRAS | 2.49 |
| 109 | Epidermolytic nevus | Enrichment | HRAS | 2.49 |
| 110 | Gingival fibromatosis | Enrichment | SOS1 | 2.49 |
| 111 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.43 |
| 112 | Hemimegalencephaly | Enrichment | PIK3CA | 2.43 |
| 113 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 2.35 |
| 114 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 2.35 |
| 115 | Gliosarcoma | Enrichment | EGFR | 2.33 |
| 116 | Giant cell glioblastoma | Enrichment | EGFR | 2.30 |
| 117 | Overgrowth syndrome | Enrichment | PIK3R1 | 2.29 |
| 118 | Pilomyxoid astrocytoma | Enrichment | KRAS | 2.25 |
| 119 | Cowden syndrome | Enrichment | PIK3CA | 2.18 |
| 120 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 2.13 |
| 121 | Meningioma | Enrichment | PIK3CA | 2.05 |
| 122 | Nk-cell enteropathy | Enrichment | ERBB4 | 2.02 |
| 123 | Aortic valve disease 1 | Enrichment | SOS1 | 1.98 |
| 124 | Protein-deficiency anemia | Enrichment | NRAS | 1.98 |
| 125 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.95 |
| 126 | Rhabdomyosarcoma | Enrichment | HRAS | 1.89 |
| 127 | Endometrial cancer | Enrichment | PIK3CA | 1.81 |
| 128 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.79 |
| 129 | Pancreatic cancer | Enrichment | KRAS | 1.70 |
| 130 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.68 |
| 131 | Prostate cancer | Enrichment | PIK3CA | 1.67 |
| 132 | Autosomal dominant non-syndromic intellectual disability | Enrichment | ERBB4 | 1.44 |
| 133 | Hypertelorism | Enrichment | PIK3CA | 1.42 |
| 134 | Inherited cancer-predisposing syndrome | Enrichment | EGFR | 1.42 |
| 135 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4 | 1.38 |
| 136 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 1.36 |
| 137 | Myeloma, multiple | Enrichment | KRAS | 1.35 |