| 1 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, MRAS, RAF1 | 7.19 |
| 2 | Rasopathy | Enrichment | BRAF, HRAS, MRAS, RAF1 | 6.96 |
| 3 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, RAF1 | 6.57 |
| 4 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA, RASA1 | 6.39 |
| 5 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA, RASA1 | 6.24 |
| 6 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, PIK3CA | 6.10 |
| 7 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS, PIK3CA | 5.97 |
| 8 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, RAF1 | 5.66 |
| 9 | Immune system disease | Enrichment | CDC42, PIK3CD | 5.52 |
| 10 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA | 4.75 |
| 11 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 4.75 |
| 12 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 4.52 |
| 13 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA | 4.52 |
| 14 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 4.35 |
| 15 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 4.35 |
| 16 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 4.35 |
| 17 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 4.20 |
| 18 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS | 4.20 |
| 19 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA, RASA1 | 4.20 |
| 20 | Noonan syndrome 3 | Enrichment | HRAS, RAF1 | 4.20 |
| 21 | Gallbladder cancer | Enrichment | BRAF, PIK3CA | 4.20 |
| 22 | Pilomyxoid astrocytoma | Enrichment | BRAF, RAF1 | 4.20 |
| 23 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS | 4.20 |
| 24 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.97 |
| 25 | Meningioma | Enrichment | AKT1, PIK3CA | 3.71 |
| 26 | Colorectal cancer | Enrichment | AKT1, BRAF, PIK3CA | 3.33 |
| 27 | Bladder cancer | Enrichment | HRAS, PIK3CA | 2.93 |
| 28 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS | 2.93 |
| 29 | Lung cancer | Enrichment | BRAF, PIK3CA | 2.84 |
| 30 | Macrodactyly | Enrichment | PIK3CA | 2.75 |
| 31 | Proteus syndrome | Enrichment | AKT1 | 2.75 |
| 32 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.75 |
| 33 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.75 |
| 34 | Noonan syndrome 5 | Enrichment | RAF1 | 2.75 |
| 35 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.75 |
| 36 | Noonan syndrome 7 | Enrichment | BRAF | 2.75 |
| 37 | Leopard syndrome 3 | Enrichment | BRAF | 2.75 |
| 38 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.75 |
| 39 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.75 |
| 40 | Cardiac valvular dysplasia 1 | Enrichment | PLD1 | 2.75 |
| 41 | Hiatt-neu-cooper neurodevelopmental syndrome | Enrichment | RALA | 2.75 |
| 42 | Noonan syndrome 11 | Enrichment | MRAS | 2.75 |
| 43 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.75 |
| 44 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.75 |
| 45 | Lymphangioma | Enrichment | BRAF | 2.75 |
| 46 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.75 |
| 47 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.75 |
| 48 | Phace association | Enrichment | BRAF | 2.75 |
| 49 | Leopard syndrome 2 | Enrichment | RAF1 | 2.75 |
| 50 | Cowden syndrome 6 | Enrichment | AKT1 | 2.75 |
| 51 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.75 |
| 52 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.75 |
| 53 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.75 |
| 54 | Neurodevelopmental disorder with language delay and seizures | Enrichment | TIAM1 | 2.75 |
| 55 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.75 |
| 56 | Trigonitis | Enrichment | RAF1 | 2.75 |
| 57 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.75 |
| 58 | Hypospadias | Enrichment | PIK3CA | 2.75 |
| 59 | Capillary hemangioma | Enrichment | AKT3 | 2.75 |
| 60 | Rare venous malformation | Enrichment | PIK3CA | 2.75 |
| 61 | Gorham's disease | Enrichment | RASA1 | 2.75 |
| 62 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.75 |
| 63 | Nocarh syndrome | Enrichment | CDC42 | 2.75 |
| 64 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.75 |
| 65 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.75 |
| 66 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.75 |
| 67 | Ganglioglioma | Enrichment | BRAF | 2.75 |
| 68 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.75 |
| 69 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.75 |
| 70 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.75 |
| 71 | Phace syndrome | Enrichment | BRAF | 2.75 |
| 72 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.75 |
| 73 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.75 |
| 74 | Classic hairy cell leukemia | Enrichment | BRAF | 2.75 |
| 75 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.75 |
| 76 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.75 |
| 77 | Macrodactyly of toe | Enrichment | PIK3CA | 2.75 |
| 78 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.75 |
| 79 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 2.57 |
| 80 | Costello syndrome | Enrichment | HRAS | 2.45 |
| 81 | Pulmonic stenosis | Enrichment | BRAF | 2.45 |
| 82 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.45 |
| 83 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.45 |
| 84 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.45 |
| 85 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.45 |
| 86 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.45 |
| 87 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.45 |
| 88 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.45 |
| 89 | Wooly hair nevus | Enrichment | HRAS | 2.45 |
| 90 | Ataxia-telangiectasia | Enrichment | BRAF | 2.28 |
| 91 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.28 |
| 92 | Langerhans cell histiocytosis | Enrichment | BRAF | 2.28 |
| 93 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 2.28 |
| 94 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD | 2.28 |
| 95 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.28 |
| 96 | Large congenital melanocytic nevus | Enrichment | HRAS | 2.28 |
| 97 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.28 |
| 98 | Immunodeficiency 14 | Enrichment | PIK3CD | 2.28 |
| 99 | Spermatocytoma | Enrichment | HRAS | 2.28 |
| 100 | Keratoacanthoma | Enrichment | PIK3CA | 2.28 |
| 101 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 2.15 |
| 102 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF | 2.15 |
| 103 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 2.15 |
| 104 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 2.15 |
| 105 | Cardiofaciocutaneous syndrome | Enrichment | BRAF | 2.15 |
| 106 | Cerebrovascular disease | Enrichment | PIK3CA | 2.15 |
| 107 | Craniopharyngioma | Enrichment | BRAF | 2.15 |
| 108 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 2.15 |
| 109 | Newborn respiratory distress syndrome | Enrichment | BRAF | 2.15 |
| 110 | Epidermolytic nevus | Enrichment | HRAS | 2.15 |
| 111 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.15 |
| 112 | Breast cancer | Enrichment | AKT1, PIK3CA | 2.11 |
| 113 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 2.06 |
| 114 | Martsolf syndrome 1 | Enrichment | ARHGAP5 | 2.05 |
| 115 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.98 |
| 116 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.98 |
| 117 | Wilms tumor 5 | Enrichment | BRAF | 1.98 |
| 118 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.98 |
| 119 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.98 |
| 120 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.98 |
| 121 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.91 |
| 122 | Megacolon | Enrichment | AKT3 | 1.91 |
| 123 | Ovarian cancer | Enrichment | AKT1, PIK3CA | 1.87 |
| 124 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.85 |
| 125 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.80 |
| 126 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.80 |
| 127 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.80 |
| 128 | Primary hyperaldosteronism | Enrichment | BRAF | 1.80 |
| 129 | Ventricular septal defect | Enrichment | BRAF | 1.80 |
| 130 | Polymicrogyria | Enrichment | AKT3 | 1.76 |
| 131 | Melanoma | Enrichment | BRAF | 1.76 |
| 132 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD | 1.76 |
| 133 | Complex neurodevelopmental disorder | Enrichment | RALA, TIAM1 | 1.70 |
| 134 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.64 |
| 135 | Lung cancer susceptibility 3 | Enrichment | BRAF | 1.61 |
| 136 | Wilms tumor 1 | Enrichment | BRAF | 1.58 |
| 137 | Lynch syndrome | Enrichment | PIK3CA | 1.58 |
| 138 | Rhabdomyosarcoma | Enrichment | HRAS | 1.55 |
| 139 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.53 |
| 140 | Dandy-walker syndrome | Enrichment | BRAF | 1.53 |
| 141 | Arteriovenous malformations of the brain | Enrichment | BRAF | 1.48 |
| 142 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 1.48 |
| 143 | Cardiomyopathy, dilated, 1a | Enrichment | RAPGEF5 | 1.44 |
| 144 | Endometrial cancer | Enrichment | PIK3CA | 1.44 |
| 145 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.42 |
| 146 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.38 |
| 147 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.35 |
| 148 | Prostate cancer | Enrichment | PIK3CA | 1.30 |
| 149 | Non-immune hydrops fetalis | Enrichment | HRAS | 1.27 |
| 150 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.25 |
| 151 | Left ventricular noncompaction | Enrichment | RAF1 | 1.22 |
| 152 | Type 2 diabetes mellitus | Enrichment | AKT2 | 1.14 |
| 153 | Gastric cancer | Enrichment | PIK3CA | 1.13 |
| 154 | Hypertelorism | Enrichment | PIK3CA | 1.05 |
| 155 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 1.05 |
| 156 | Myeloma, multiple | Enrichment | BRAF | 1.02 |