| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, HRAS, PTPN11, SOS1 | 6.89 |
| 2 | Noonan syndrome 1 | Enrichment | CBL, HRAS, PTPN11, SOS1 | 6.09 |
| 3 | Noonan syndrome 3 | Enrichment | HRAS, PTPN11, SOS1 | 5.96 |
| 4 | Rasopathy | Enrichment | CBL, HRAS, PTPN11, SOS1 | 5.86 |
| 5 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA, RASA1 | 5.58 |
| 6 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA, RASA1 | 5.42 |
| 7 | Type 2 diabetes mellitus | Enrichment | AKT2, INSR, IRS1, PTPN1 | 5.01 |
| 8 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.51 |
| 9 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 4.21 |
| 10 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 3.99 |
| 11 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 3.82 |
| 12 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.82 |
| 13 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 3.67 |
| 14 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA, RASA1 | 3.67 |
| 15 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.44 |
| 16 | Lung non-small cell carcinoma | Enrichment | HRAS, PIK3CA | 3.26 |
| 17 | Juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 3.18 |
| 18 | Meningioma | Enrichment | AKT1, PIK3CA | 3.18 |
| 19 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 3.18 |
| 20 | Rhabdomyosarcoma | Enrichment | CBL, HRAS | 2.92 |
| 21 | Breast cancer | Enrichment | AKT1, PIK3CA, SHC1 | 2.74 |
| 22 | Colorectal cancer | Enrichment | AKT1, PIK3CA, PIK3R1 | 2.55 |
| 23 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 2.50 |
| 24 | Macrodactyly | Enrichment | PIK3CA | 2.49 |
| 25 | Proteus syndrome | Enrichment | AKT1 | 2.49 |
| 26 | Metachondromatosis | Enrichment | PTPN11 | 2.49 |
| 27 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.49 |
| 28 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.49 |
| 29 | Donohue syndrome | Enrichment | INSR | 2.49 |
| 30 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 2.49 |
| 31 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 2.49 |
| 32 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 2.49 |
| 33 | Noonan syndrome 4 | Enrichment | SOS1 | 2.49 |
| 34 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.49 |
| 35 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.49 |
| 36 | Bronchiectasis with or without elevated sweat chloride 2 | Enrichment | SCNN1A | 2.49 |
| 37 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.49 |
| 38 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.49 |
| 39 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.49 |
| 40 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.49 |
| 41 | Short syndrome | Enrichment | PIK3R1 | 2.49 |
| 42 | Liddle syndrome 3 | Enrichment | SCNN1A | 2.49 |
| 43 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.49 |
| 44 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.49 |
| 45 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.49 |
| 46 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.49 |
| 47 | Cowden syndrome 6 | Enrichment | AKT1 | 2.49 |
| 48 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.49 |
| 49 | Neurodevelopmental disorder with seizures and brain atrophy | Enrichment | EXOC7 | 2.49 |
| 50 | Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy | Enrichment | EXOC8 | 2.49 |
| 51 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.49 |
| 52 | Hypospadias | Enrichment | PIK3CA | 2.49 |
| 53 | Rare venous malformation | Enrichment | PIK3CA | 2.49 |
| 54 | Gorham's disease | Enrichment | RASA1 | 2.49 |
| 55 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.49 |
| 56 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.49 |
| 57 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.49 |
| 58 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.49 |
| 59 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.49 |
| 60 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.49 |
| 61 | Silver-russell syndrome due to maternal uniparental disomy of chromosome 7 | Enrichment | GRB10 | 2.49 |
| 62 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.49 |
| 63 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.49 |
| 64 | Macrodactyly of toe | Enrichment | PIK3CA | 2.49 |
| 65 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.49 |
| 66 | Malignant astrocytoma | Enrichment | PTPN11 | 2.49 |
| 67 | Bladder cancer | Enrichment | HRAS, PIK3CA | 2.40 |
| 68 | Non-immune hydrops fetalis | Enrichment | HRAS, PTPN11 | 2.35 |
| 69 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.19 |
| 70 | Costello syndrome | Enrichment | HRAS | 2.19 |
| 71 | Ovarian germ cell cancer | Enrichment | CBL | 2.19 |
| 72 | Pulmonic stenosis | Enrichment | SOS1 | 2.19 |
| 73 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 2.19 |
| 74 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.19 |
| 75 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 2.19 |
| 76 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.19 |
| 77 | Myopia 28, autosomal recessive | Enrichment | DOK1 | 2.19 |
| 78 | Hyperproinsulinemia | Enrichment | INS | 2.19 |
| 79 | Dystonia 30 | Enrichment | PTPRA | 2.19 |
| 80 | Werner syndrome | Enrichment | PTPN11 | 2.19 |
| 81 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.19 |
| 82 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 2.19 |
| 83 | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | Enrichment | EXOC2 | 2.19 |
| 84 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.19 |
| 85 | Pseudohypoaldosteronism | Enrichment | SCNN1A | 2.19 |
| 86 | Wooly hair nevus | Enrichment | HRAS | 2.19 |
| 87 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 2.05 |
| 88 | Type 1 diabetes mellitus 2 | Enrichment | INS | 2.01 |
| 89 | Liddle syndrome 1 | Enrichment | SCNN1A | 2.01 |
| 90 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.01 |
| 91 | Nuchal bleb, familial | Enrichment | SOS1 | 2.01 |
| 92 | Pseudohypoaldosteronism, type ib1, autosomal recessive | Enrichment | SCNN1A | 2.01 |
| 93 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.01 |
| 94 | Large congenital melanocytic nevus | Enrichment | HRAS | 2.01 |
| 95 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.01 |
| 96 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.01 |
| 97 | Spermatocytoma | Enrichment | HRAS | 2.01 |
| 98 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.01 |
| 99 | Keratoacanthoma | Enrichment | PIK3CA | 2.01 |
| 100 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.89 |
| 101 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.89 |
| 102 | Neonatal diabetes mellitus | Enrichment | INS | 1.89 |
| 103 | Cerebrovascular disease | Enrichment | PIK3CA | 1.89 |
| 104 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.89 |
| 105 | Epidermolytic nevus | Enrichment | HRAS | 1.89 |
| 106 | Idiopathic bronchiectasis | Enrichment | SCNN1A | 1.89 |
| 107 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.89 |
| 108 | Gingival fibromatosis | Enrichment | SOS1 | 1.89 |
| 109 | Lymphoma | Enrichment | PTPN11 | 1.79 |
| 110 | Myeloproliferative neoplasm | Enrichment | CBL | 1.79 |
| 111 | Hemimegalencephaly | Enrichment | PIK3CA | 1.79 |
| 112 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.79 |
| 113 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1 | 1.79 |
| 114 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.71 |
| 115 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.71 |
| 116 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.71 |
| 117 | Type 1 diabetes mellitus | Enrichment | INS | 1.71 |
| 118 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.71 |
| 119 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.71 |
| 120 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.71 |
| 121 | Limited scleroderma | Enrichment | CAV1 | 1.71 |
| 122 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.71 |
| 123 | 46,xy disorder of sex development | Enrichment | INSR | 1.71 |
| 124 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.65 |
| 125 | Gallbladder cancer | Enrichment | PIK3CA | 1.65 |
| 126 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.65 |
| 127 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.65 |
| 128 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.65 |
| 129 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS | 1.59 |
| 130 | Permanent neonatal diabetes mellitus | Enrichment | INS | 1.59 |
| 131 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.54 |
| 132 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.50 |
| 133 | Pectus excavatum | Enrichment | PTPN11 | 1.45 |
| 134 | Diabetes mellitus | Enrichment | INS | 1.45 |
| 135 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.45 |
| 136 | Specific learning disability | Enrichment | PTPN11 | 1.45 |
| 137 | Epicanthus | Enrichment | PTPN11 | 1.42 |
| 138 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.42 |
| 139 | Aortic valve disease 1 | Enrichment | SOS1 | 1.38 |
| 140 | Ovarian cancer | Enrichment | AKT1, PIK3CA | 1.37 |
| 141 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.35 |
| 142 | Lynch syndrome | Enrichment | PIK3CA | 1.32 |
| 143 | Patent foramen ovale | Enrichment | PTPN11 | 1.25 |
| 144 | Maturity-onset diabetes of the young | Enrichment | INS | 1.20 |
| 145 | Endometrial cancer | Enrichment | PIK3CA | 1.18 |
| 146 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.16 |
| 147 | Scoliosis | Enrichment | PTPN11 | 1.12 |
| 148 | Brugada syndrome | Enrichment | SCNN1A | 1.09 |
| 149 | Strabismus | Enrichment | PTPN11 | 1.08 |
| 150 | Prostate cancer | Enrichment | PIK3CA | 1.05 |
| 151 | Meckel syndrome, type 1 | Enrichment | EXOC4 | 1.05 |
| 152 | Differentiated thyroid carcinoma | Enrichment | HRAS | 1.05 |
| 153 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.03 |
| 154 | Lung cancer | Enrichment | PIK3CA | 1.01 |
| 155 | Gastric cancer | Enrichment | PIK3CA | 0.88 |
| 156 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.88 |
| 157 | Thrombocytopenia | Enrichment | PTPN11 | 0.84 |
| 158 | Hypertelorism | Enrichment | PIK3CA | 0.81 |
| 159 | Myeloma, multiple | Enrichment | SGK1 | 0.78 |
| 160 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.78 |
| 161 | Autism spectrum disorder | Enrichment | PTPN11 | 0.52 |
| 162 | Microcephaly | Enrichment | PTPN11 | 0.48 |
| 163 | Inherited cancer-predisposing syndrome | Enrichment | PTPN11 | 0.46 |