| 1 | Noonan syndrome 1 | Enrichment | BRAF, KRAS, RAF1, SOS1, SOS2 | 9.15 |
| 2 | Rasopathy | Enrichment | BRAF, KRAS, RAF1, SOS1, SOS2 | 8.87 |
| 3 | Lung non-small cell carcinoma | Enrichment | BRAF, EGFR, KRAS, PIK3CA | 8.39 |
| 4 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, KRAS, RAF1, SOS1 | 7.78 |
| 5 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS, PIK3CA | 6.85 |
| 6 | Noonan syndrome 3 | Enrichment | KRAS, RAF1, SOS1 | 6.61 |
| 7 | Gallbladder cancer | Enrichment | BRAF, KRAS, PIK3CA | 6.61 |
| 8 | Pilomyxoid astrocytoma | Enrichment | BRAF, KRAS, RAF1 | 6.61 |
| 9 | Lung cancer | Enrichment | BRAF, EGFR, KRAS, PIK3CA | 6.37 |
| 10 | Lip and oral cavity carcinoma | Enrichment | BRAF, EGFR, PIK3CA | 5.82 |
| 11 | Lung cancer susceptibility 3 | Enrichment | BRAF, EGFR, KRAS | 5.60 |
| 12 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 5.42 |
| 13 | Arteriovenous malformations of the brain | Enrichment | BRAF, EGFR, KRAS | 5.18 |
| 14 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS | 4.64 |
| 15 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS | 4.64 |
| 16 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 4.64 |
| 17 | Bladder cancer | Enrichment | EGFR, KRAS, PIK3CA | 4.61 |
| 18 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 4.24 |
| 19 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA | 4.24 |
| 20 | Nevus, epidermal | Enrichment | KRAS, PIK3CA | 4.10 |
| 21 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 4.10 |
| 22 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, RAF1 | 3.97 |
| 23 | Adult hepatocellular carcinoma | Enrichment | EGF, PIK3CA | 3.87 |
| 24 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 3.40 |
| 25 | Breast cancer | Enrichment | KRAS, PIK3CA, SHC1 | 3.36 |
| 26 | Ovarian cancer | Enrichment | EGFR, KRAS, PIK3CA | 2.99 |
| 27 | Differentiated thyroid carcinoma | Enrichment | BRAF, KRAS | 2.82 |
| 28 | Macrodactyly | Enrichment | PIK3CA | 2.70 |
| 29 | Oculoectodermal syndrome | Enrichment | KRAS | 2.70 |
| 30 | Pallister-killian syndrome | Enrichment | ARAF | 2.70 |
| 31 | Noonan syndrome 5 | Enrichment | RAF1 | 2.70 |
| 32 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.70 |
| 33 | Noonan syndrome 4 | Enrichment | SOS1 | 2.70 |
| 34 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.70 |
| 35 | Noonan syndrome 7 | Enrichment | BRAF | 2.70 |
| 36 | Leopard syndrome 3 | Enrichment | BRAF | 2.70 |
| 37 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.70 |
| 38 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.70 |
| 39 | Noonan syndrome 9 | Enrichment | SOS2 | 2.70 |
| 40 | Bleeding disorder, platelet-type, 18 | Enrichment | RASGRP2 | 2.70 |
| 41 | Microvascular complications of diabetes 2 | Enrichment | EPO | 2.70 |
| 42 | Immunodeficiency 64 with lymphoproliferation | Enrichment | RASGRP1 | 2.70 |
| 43 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.70 |
| 44 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.70 |
| 45 | Lymphangioma | Enrichment | BRAF | 2.70 |
| 46 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.70 |
| 47 | 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 |
| 48 | Phace association | Enrichment | BRAF | 2.70 |
| 49 | Leopard syndrome 2 | Enrichment | RAF1 | 2.70 |
| 50 | Erythrocytosis, familial, 5 | Enrichment | EPO | 2.70 |
| 51 | Immunodeficiency 22 | Enrichment | LCK | 2.70 |
| 52 | Alfadhel syndrome | Enrichment | RAP1GDS1 | 2.70 |
| 53 | Trigonitis | Enrichment | RAF1 | 2.70 |
| 54 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.70 |
| 55 | Hypospadias | Enrichment | PIK3CA | 2.70 |
| 56 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.70 |
| 57 | Rare venous malformation | Enrichment | PIK3CA | 2.70 |
| 58 | Immunodeficiency 64 | Enrichment | RASGRP1 | 2.70 |
| 59 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.70 |
| 60 | Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency | Enrichment | RASGRP1 | 2.70 |
| 61 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.70 |
| 62 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.70 |
| 63 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.70 |
| 64 | Ganglioglioma | Enrichment | BRAF | 2.70 |
| 65 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.70 |
| 66 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.70 |
| 67 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.70 |
| 68 | Phace syndrome | Enrichment | BRAF | 2.70 |
| 69 | Classic hairy cell leukemia | Enrichment | BRAF | 2.70 |
| 70 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.70 |
| 71 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.70 |
| 72 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.70 |
| 73 | Macrodactyly of toe | Enrichment | PIK3CA | 2.70 |
| 74 | Gastric cancer | Enrichment | KRAS, PIK3CA | 2.48 |
| 75 | Hereditary breast carcinoma | Enrichment | KRAS, PIK3CA | 2.46 |
| 76 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.40 |
| 77 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.40 |
| 78 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.40 |
| 79 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS | 2.40 |
| 80 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.40 |
| 81 | Diamond-blackfan anemia-like | Enrichment | EPO | 2.40 |
| 82 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.40 |
| 83 | Myeloma, multiple | Enrichment | BRAF, KRAS | 2.26 |
| 84 | Ataxia-telangiectasia | Enrichment | BRAF | 2.22 |
| 85 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.22 |
| 86 | Nuchal bleb, familial | Enrichment | SOS1 | 2.22 |
| 87 | Langerhans cell histiocytosis | Enrichment | BRAF | 2.22 |
| 88 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 2.22 |
| 89 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.22 |
| 90 | Primary polycythemia | Enrichment | EPOR | 2.22 |
| 91 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.22 |
| 92 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.22 |
| 93 | Keratoacanthoma | Enrichment | PIK3CA | 2.22 |
| 94 | Erythrocytosis, familial, 1 | Enrichment | EPOR | 2.10 |
| 95 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | KRAS | 2.10 |
| 96 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.10 |
| 97 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 2.10 |
| 98 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.10 |
| 99 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.10 |
| 100 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS | 2.10 |
| 101 | Ciliary dyskinesia, primary, 22 | Enrichment | RASSF1 | 2.10 |
| 102 | Cerebrovascular disease | Enrichment | PIK3CA | 2.10 |
| 103 | Craniopharyngioma | Enrichment | BRAF | 2.10 |
| 104 | Pilocytic astrocytoma | Enrichment | KRAS | 2.10 |
| 105 | Newborn respiratory distress syndrome | Enrichment | BRAF | 2.10 |
| 106 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.10 |
| 107 | Gingival fibromatosis | Enrichment | SOS1 | 2.10 |
| 108 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 2.10 |
| 109 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.00 |
| 110 | Hemimegalencephaly | Enrichment | PIK3CA | 2.00 |
| 111 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 1.96 |
| 112 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.92 |
| 113 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.92 |
| 114 | Wilms tumor 5 | Enrichment | BRAF | 1.92 |
| 115 | Autosomal dominant secondary polycythemia | Enrichment | EPO | 1.92 |
| 116 | Colorectal cancer | Enrichment | BRAF, PIK3CA | 1.89 |
| 117 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF | 1.86 |
| 118 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.86 |
| 119 | Leukemia, chronic myeloid | Enrichment | KRAS | 1.86 |
| 120 | Follicular thyroid carcinoma | Enrichment | BRAF | 1.86 |
| 121 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.80 |
| 122 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.75 |
| 123 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.75 |
| 124 | Arteriovenous malformation | Enrichment | PIK3CA | 1.75 |
| 125 | Primary hyperaldosteronism | Enrichment | BRAF | 1.75 |
| 126 | Ventricular septal defect | Enrichment | BRAF | 1.75 |
| 127 | Cowden syndrome | Enrichment | PIK3CA | 1.75 |
| 128 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.70 |
| 129 | Melanoma | Enrichment | BRAF | 1.70 |
| 130 | Juvenile myelomonocytic leukemia | Enrichment | KRAS | 1.63 |
| 131 | Meningioma | Enrichment | PIK3CA | 1.63 |
| 132 | Aortic valve disease 1 | Enrichment | SOS1 | 1.59 |
| 133 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.56 |
| 134 | Wilms tumor 1 | Enrichment | BRAF | 1.53 |
| 135 | Gliosarcoma | Enrichment | EGFR | 1.50 |
| 136 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.48 |
| 137 | Dandy-walker syndrome | Enrichment | BRAF | 1.48 |
| 138 | Giant cell glioblastoma | Enrichment | EGFR | 1.48 |
| 139 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 1.43 |
| 140 | Endometrial cancer | Enrichment | PIK3CA | 1.39 |
| 141 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.37 |
| 142 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.33 |
| 143 | Pancreatic cancer | Enrichment | KRAS | 1.31 |
| 144 | Prostate cancer | Enrichment | PIK3CA | 1.25 |
| 145 | Non-immune hydrops fetalis | Enrichment | KRAS | 1.22 |
| 146 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.20 |
| 147 | Severe combined immunodeficiency | Enrichment | LCK | 1.20 |
| 148 | Left ventricular noncompaction | Enrichment | RAF1 | 1.17 |
| 149 | Leukemia, acute myeloid | Enrichment | KRAS | 1.12 |
| 150 | Hypertelorism | Enrichment | PIK3CA | 1.01 |
| 151 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 1.00 |
| 152 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.98 |
| 153 | Inherited cancer-predisposing syndrome | Enrichment | EGFR | 0.63 |