| 1 | Lung non-small cell carcinoma | Enrichment | EGFR, HRAS, KRAS, NRAS, PIK3CA | 10.98 |
| 2 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, HRAS, KRAS, NRAS, SOS1 | 10.57 |
| 3 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 10.29 |
| 4 | Noonan syndrome 1 | Enrichment | CBL, HRAS, KRAS, NRAS, SOS1 | 10.28 |
| 5 | Rasopathy | Enrichment | CBL, HRAS, KRAS, NRAS, SOS1 | 10.23 |
| 6 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 8.55 |
| 7 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS, PIK3CA | 7.66 |
| 8 | Bladder cancer | Enrichment | EGFR, HRAS, KRAS, PIK3CA | 7.65 |
| 9 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 7.62 |
| 10 | Juvenile myelomonocytic leukemia | Enrichment | CBL, KRAS, NRAS | 6.62 |
| 11 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS, PIK3CA | 6.62 |
| 12 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 6.07 |
| 13 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 5.61 |
| 14 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 5.59 |
| 15 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 5.47 |
| 16 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 5.29 |
| 17 | Lung cancer | Enrichment | EGFR, KRAS, PIK3CA | 5.27 |
| 18 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 4.77 |
| 19 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA | 4.77 |
| 20 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 4.75 |
| 21 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.75 |
| 22 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 4.75 |
| 23 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 4.63 |
| 24 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 4.62 |
| 25 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 4.62 |
| 26 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 4.39 |
| 27 | Adult hepatocellular carcinoma | Enrichment | EGF, PIK3CA | 4.39 |
| 28 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 4.29 |
| 29 | Breast cancer | Enrichment | KRAS, PIK3CA, SHC1 | 4.15 |
| 30 | Lung cancer susceptibility 3 | Enrichment | EGFR, KRAS | 4.12 |
| 31 | Colorectal cancer | Enrichment | NRAS, PIK3CA, PIK3R1 | 3.96 |
| 32 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 3.93 |
| 33 | Rhabdomyosarcoma | Enrichment | CBL, HRAS | 3.87 |
| 34 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 3.84 |
| 35 | Ovarian cancer | Enrichment | EGFR, KRAS, PIK3CA | 3.77 |
| 36 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 3.41 |
| 37 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 3.19 |
| 38 | Hypomagnesemia 4, renal | Enrichment | EGF | 3.18 |
| 39 | Noonan syndrome 4 | Enrichment | SOS1 | 3.18 |
| 40 | Mandibulofacial dysostosis with alopecia | Enrichment | EDNRA | 3.18 |
| 41 | Auriculocondylar syndrome 3 | Enrichment | EDN1 | 3.18 |
| 42 | Question mark ears, isolated | Enrichment | EDN1 | 3.18 |
| 43 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 3.18 |
| 44 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 3.18 |
| 45 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 3.18 |
| 46 | Oculoectodermal syndrome | Enrichment | KRAS | 3.02 |
| 47 | Melanosis, neurocutaneous | Enrichment | NRAS | 3.02 |
| 48 | Noonan syndrome 6 | Enrichment | NRAS | 3.02 |
| 49 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 3.02 |
| 50 | Congenital pulmonary airway malformation | Enrichment | KRAS | 3.02 |
| 51 | Neurocutaneous melanocytosis | Enrichment | NRAS | 3.02 |
| 52 | Gastric cancer | Enrichment | KRAS, PIK3CA | 3.00 |
| 53 | Hereditary breast carcinoma | Enrichment | KRAS, PIK3CA | 2.98 |
| 54 | Macrodactyly | Enrichment | PIK3CA | 2.96 |
| 55 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.96 |
| 56 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.96 |
| 57 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.96 |
| 58 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.96 |
| 59 | Short syndrome | Enrichment | PIK3R1 | 2.96 |
| 60 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.96 |
| 61 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.96 |
| 62 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.96 |
| 63 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.96 |
| 64 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.96 |
| 65 | Hypospadias | Enrichment | PIK3CA | 2.96 |
| 66 | Rare venous malformation | Enrichment | PIK3CA | 2.96 |
| 67 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.96 |
| 68 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.96 |
| 69 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.96 |
| 70 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.96 |
| 71 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.96 |
| 72 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.96 |
| 73 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.96 |
| 74 | Macrodactyly of toe | Enrichment | PIK3CA | 2.96 |
| 75 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.88 |
| 76 | Costello syndrome | Enrichment | HRAS | 2.88 |
| 77 | Pulmonic stenosis | Enrichment | SOS1 | 2.88 |
| 78 | Cebalid syndrome | Enrichment | MTOR | 2.88 |
| 79 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.88 |
| 80 | Wooly hair nevus | Enrichment | HRAS | 2.88 |
| 81 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.72 |
| 82 | Nuchal bleb, familial | Enrichment | SOS1 | 2.70 |
| 83 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.70 |
| 84 | Spermatocytoma | Enrichment | HRAS | 2.70 |
| 85 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.70 |
| 86 | Ovarian germ cell cancer | Enrichment | CBL | 2.66 |
| 87 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.66 |
| 88 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.66 |
| 89 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.66 |
| 90 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.66 |
| 91 | Auriculocondylar syndrome 1 | Enrichment | EDN1 | 2.58 |
| 92 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 2.58 |
| 93 | Epidermolytic nevus | Enrichment | HRAS | 2.58 |
| 94 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 2.58 |
| 95 | Gingival fibromatosis | Enrichment | SOS1 | 2.58 |
| 96 | Submucosal cleft palate | Enrichment | UBB | 2.55 |
| 97 | Cleft hard palate | Enrichment | UBB | 2.55 |
| 98 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.54 |
| 99 | Hemimegalencephaly | Enrichment | MTOR | 2.48 |
| 100 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.48 |
| 101 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.48 |
| 102 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.48 |
| 103 | Keratoacanthoma | Enrichment | PIK3CA | 2.48 |
| 104 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.42 |
| 105 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.42 |
| 106 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.42 |
| 107 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.42 |
| 108 | Pilocytic astrocytoma | Enrichment | KRAS | 2.42 |
| 109 | Uvula, bifid | Enrichment | UBB | 2.38 |
| 110 | Cleft soft palate | Enrichment | UBB | 2.38 |
| 111 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.35 |
| 112 | Cerebrovascular disease | Enrichment | PIK3CA | 2.35 |
| 113 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL | 2.35 |
| 114 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.35 |
| 115 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 2.33 |
| 116 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 2.33 |
| 117 | Overgrowth syndrome | Enrichment | MTOR | 2.33 |
| 118 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.26 |
| 119 | Myeloproliferative neoplasm | Enrichment | CBL | 2.26 |
| 120 | Aggressive systemic mastocytosis | Enrichment | CBL | 2.26 |
| 121 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 2.18 |
| 122 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 2.18 |
| 123 | Pilomyxoid astrocytoma | Enrichment | KRAS | 2.17 |
| 124 | Aortic valve disease 1 | Enrichment | SOS1 | 2.07 |
| 125 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 2.03 |
| 126 | Cowden syndrome | Enrichment | PIK3CA | 2.00 |
| 127 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 2.00 |
| 128 | Rare genetic intellectual disability | Enrichment | MTOR | 2.00 |
| 129 | Gliosarcoma | Enrichment | EGFR | 1.98 |
| 130 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.96 |
| 131 | Giant cell glioblastoma | Enrichment | EGFR | 1.95 |
| 132 | Protein-deficiency anemia | Enrichment | NRAS | 1.91 |
| 133 | Meningioma | Enrichment | PIK3CA | 1.88 |
| 134 | Tooth agenesis | Enrichment | TGFA | 1.84 |
| 135 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.77 |
| 136 | Cystic fibrosis | Enrichment | EDNRA | 1.68 |
| 137 | Endometrial cancer | Enrichment | PIK3CA | 1.64 |
| 138 | Pancreatic cancer | Enrichment | KRAS | 1.63 |
| 139 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.62 |
| 140 | Prostate cancer | Enrichment | PIK3CA | 1.50 |
| 141 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 1.29 |
| 142 | Myeloma, multiple | Enrichment | KRAS | 1.28 |
| 143 | Hypertelorism | Enrichment | PIK3CA | 1.25 |
| 144 | Inherited cancer-predisposing syndrome | Enrichment | EGFR | 1.07 |