| 1 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 9.49 |
| 2 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS, SOS1 | 9.01 |
| 3 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 8.53 |
| 4 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 8.45 |
| 5 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS, SOS1 | 8.21 |
| 6 | Rasopathy | Enrichment | HRAS, KRAS, NRAS, SOS1 | 7.98 |
| 7 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 7.51 |
| 8 | Erythrocytosis, familial, 1 | Enrichment | EPOR, JAK2, SH2B3 | 7.36 |
| 9 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 6.00 |
| 10 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 5.67 |
| 11 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 5.67 |
| 12 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 5.67 |
| 13 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 5.53 |
| 14 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 5.50 |
| 15 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 5.23 |
| 16 | Leukemia, acute myeloid | Enrichment | JAK2, KRAS, NRAS | 5.07 |
| 17 | Bladder cancer | Enrichment | HRAS, KRAS, PIK3CA | 4.71 |
| 18 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 4.68 |
| 19 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.68 |
| 20 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 4.68 |
| 21 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 4.56 |
| 22 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 4.52 |
| 23 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 4.49 |
| 24 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA | 4.31 |
| 25 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 4.31 |
| 26 | Myeloproliferative neoplasm | Enrichment | CBL, JAK2 | 4.30 |
| 27 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 4.19 |
| 28 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 4.17 |
| 29 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 4.17 |
| 30 | Myelofibrosis | Enrichment | JAK2, SH2B3 | 3.98 |
| 31 | Essential thrombocythemia | Enrichment | JAK2, SH2B3 | 3.98 |
| 32 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 3.93 |
| 33 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 3.84 |
| 34 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 3.67 |
| 35 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 3.47 |
| 36 | Breast cancer | Enrichment | KRAS, PIK3CA, SHC1 | 3.47 |
| 37 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 3.34 |
| 38 | Microvascular complications of diabetes 2 | Enrichment | EPO | 3.29 |
| 39 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 3.29 |
| 40 | Erythrocytosis, familial, 5 | Enrichment | EPO | 3.29 |
| 41 | Autoinflammatory disease, systemic, with vasculitis | Enrichment | LYN | 3.29 |
| 42 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 3.29 |
| 43 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 3.29 |
| 44 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 3.29 |
| 45 | Colorectal cancer | Enrichment | NRAS, PIK3CA, PIK3R1 | 3.28 |
| 46 | Rhabdomyosarcoma | Enrichment | CBL, HRAS | 3.23 |
| 47 | Macrodactyly | Enrichment | PIK3CA | 3.05 |
| 48 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 3.05 |
| 49 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 3.05 |
| 50 | Cowden syndrome 5 | Enrichment | PIK3CA | 3.05 |
| 51 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 3.05 |
| 52 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 3.05 |
| 53 | Short syndrome | Enrichment | PIK3R1 | 3.05 |
| 54 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 3.05 |
| 55 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 3.05 |
| 56 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 3.05 |
| 57 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 3.05 |
| 58 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 3.05 |
| 59 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 3.05 |
| 60 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 3.05 |
| 61 | Hypospadias | Enrichment | PIK3CA | 3.05 |
| 62 | Rare venous malformation | Enrichment | PIK3CA | 3.05 |
| 63 | Diaphragmatic eventration | Enrichment | PIK3CA | 3.05 |
| 64 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 3.05 |
| 65 | Rare combined vascular malformation | Enrichment | PIK3CA | 3.05 |
| 66 | Cavernous lymphangioma | Enrichment | PIK3CA | 3.05 |
| 67 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 3.05 |
| 68 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 3.05 |
| 69 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 3.05 |
| 70 | Macrodactyly of toe | Enrichment | PIK3CA | 3.05 |
| 71 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.99 |
| 72 | Thrombocythemia 3 | Enrichment | JAK2 | 2.99 |
| 73 | Diamond-blackfan anemia-like | Enrichment | EPO | 2.99 |
| 74 | Polycythemia | Enrichment | JAK2 | 2.99 |
| 75 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.99 |
| 76 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.99 |
| 77 | Oculoectodermal syndrome | Enrichment | KRAS | 2.99 |
| 78 | Noonan syndrome 4 | Enrichment | SOS1 | 2.99 |
| 79 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.99 |
| 80 | Noonan syndrome 6 | Enrichment | NRAS | 2.99 |
| 81 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.99 |
| 82 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.99 |
| 83 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.99 |
| 84 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.99 |
| 85 | Polycythemia vera | Enrichment | JAK2 | 2.81 |
| 86 | Primary polycythemia | Enrichment | EPOR | 2.81 |
| 87 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2 | 2.81 |
| 88 | Lung cancer | Enrichment | KRAS, PIK3CA | 2.81 |
| 89 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 2.80 |
| 90 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 2.75 |
| 91 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.75 |
| 92 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.75 |
| 93 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.75 |
| 94 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.75 |
| 95 | Immune system disease | Enrichment | PIK3CD | 2.75 |
| 96 | Budd-chiari syndrome | Enrichment | JAK2 | 2.69 |
| 97 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.69 |
| 98 | Costello syndrome | Enrichment | HRAS | 2.69 |
| 99 | Pulmonic stenosis | Enrichment | SOS1 | 2.69 |
| 100 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.69 |
| 101 | Wooly hair nevus | Enrichment | HRAS | 2.69 |
| 102 | Metachondromatosis | Enrichment | PTPN11 | 2.64 |
| 103 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 2.64 |
| 104 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.64 |
| 105 | Transient erythroblastopenia of childhood | Enrichment | TEC | 2.64 |
| 106 | Isolated growth hormone deficiency type iii | Enrichment | BTK | 2.64 |
| 107 | Immunodeficiency 31a | Enrichment | STAT1 | 2.64 |
| 108 | Immunodeficiency 31b | Enrichment | STAT1 | 2.64 |
| 109 | Vegetative pyoderma gangrenosum | Enrichment | PTPN6 | 2.64 |
| 110 | Bullous pyoderma gangrenosum | Enrichment | PTPN6 | 2.64 |
| 111 | Pustular pyoderma gangrenosum | Enrichment | PTPN6 | 2.64 |
| 112 | Growth retardation-mild developmental delay-chronic hepatitis syndrome | Enrichment | SH2B3 | 2.64 |
| 113 | Classic pyoderma gangrenosum | Enrichment | PTPN6 | 2.64 |
| 114 | Malignant astrocytoma | Enrichment | PTPN11 | 2.64 |
| 115 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.58 |
| 116 | Keratoacanthoma | Enrichment | PIK3CA | 2.58 |
| 117 | Gastric cancer | Enrichment | KRAS, PIK3CA | 2.55 |
| 118 | Hereditary breast carcinoma | Enrichment | KRAS, PIK3CA | 2.53 |
| 119 | Autosomal dominant secondary polycythemia | Enrichment | EPO | 2.51 |
| 120 | Nuchal bleb, familial | Enrichment | SOS1 | 2.51 |
| 121 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.51 |
| 122 | Spermatocytoma | Enrichment | HRAS | 2.51 |
| 123 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.45 |
| 124 | Cerebrovascular disease | Enrichment | PIK3CA | 2.45 |
| 125 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.45 |
| 126 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.38 |
| 127 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.38 |
| 128 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | CRKL | 2.38 |
| 129 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.38 |
| 130 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.38 |
| 131 | Pilocytic astrocytoma | Enrichment | KRAS | 2.38 |
| 132 | Epidermolytic nevus | Enrichment | HRAS | 2.38 |
| 133 | Gingival fibromatosis | Enrichment | SOS1 | 2.38 |
| 134 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.35 |
| 135 | Hemimegalencephaly | Enrichment | PIK3CA | 2.35 |
| 136 | Ovarian germ cell cancer | Enrichment | CBL | 2.34 |
| 137 | Isolated growth hormone deficiency, type iii, with agammaglobulinemia | Enrichment | BTK | 2.34 |
| 138 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.34 |
| 139 | Immunodeficiency 31c | Enrichment | STAT1 | 2.34 |
| 140 | Agammaglobulinemia, x-linked | Enrichment | BTK | 2.34 |
| 141 | Werner syndrome | Enrichment | PTPN11 | 2.34 |
| 142 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.34 |
| 143 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.34 |
| 144 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.34 |
| 145 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 2.33 |
| 146 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 2.28 |
| 147 | Cowden syndrome 1 | Enrichment | PIK3CA | 2.28 |
| 148 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 2.28 |
| 149 | Overgrowth syndrome | Enrichment | PIK3R1 | 2.21 |
| 150 | Acute promyelocytic leukemia | Enrichment | STAT5B | 2.17 |
| 151 | Thrombocythemia 1 | Enrichment | SH2B3 | 2.16 |
| 152 | Agammaglobulinemia 1, autosomal recessive | Enrichment | BTK | 2.16 |
| 153 | Neutrophilic dermatosis, acute febrile | Enrichment | PTPN6 | 2.16 |
| 154 | Agammaglobulinemia 1 | Enrichment | BTK | 2.16 |
| 155 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 2.16 |
| 156 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.16 |
| 157 | Pilomyxoid astrocytoma | Enrichment | KRAS | 2.14 |
| 158 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 2.10 |
| 159 | Cowden syndrome | Enrichment | PIK3CA | 2.10 |
| 160 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 2.04 |
| 161 | Meningioma | Enrichment | PIK3CA | 1.98 |
| 162 | Follicular lymphoma | Enrichment | BCL2 | 1.94 |
| 163 | Lymphoma | Enrichment | PTPN11 | 1.94 |
| 164 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.94 |
| 165 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.94 |
| 166 | Aortic valve disease 1 | Enrichment | SOS1 | 1.87 |
| 167 | Protein-deficiency anemia | Enrichment | NRAS | 1.87 |
| 168 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.87 |
| 169 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.87 |
| 170 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.84 |
| 171 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.84 |
| 172 | Ovarian cancer | Enrichment | KRAS, PIK3CA | 1.83 |
| 173 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.80 |
| 174 | Endometrial cancer | Enrichment | PIK3CA | 1.73 |
| 175 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.71 |
| 176 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.71 |
| 177 | Type 2 diabetes mellitus | Enrichment | IRS2 | 1.67 |
| 178 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.65 |
| 179 | Pectus excavatum | Enrichment | PTPN11 | 1.60 |
| 180 | Specific learning disability | Enrichment | PTPN11 | 1.60 |
| 181 | Prostate cancer | Enrichment | PIK3CA | 1.60 |
| 182 | Pancreatic cancer | Enrichment | KRAS | 1.59 |
| 183 | Epicanthus | Enrichment | PTPN11 | 1.57 |
| 184 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.57 |
| 185 | Primary ovarian insufficiency | Enrichment | JAK2 | 1.52 |
| 186 | Inherited cancer-predisposing syndrome | Enrichment | PTPN11, SH2B3 | 1.44 |
| 187 | Patent foramen ovale | Enrichment | PTPN11 | 1.39 |
| 188 | Diffuse large b-cell lymphoma | Enrichment | BTK | 1.37 |
| 189 | Hypertelorism | Enrichment | PIK3CA | 1.35 |
| 190 | Scoliosis | Enrichment | PTPN11 | 1.27 |
| 191 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 1.26 |
| 192 | Myeloma, multiple | Enrichment | KRAS | 1.25 |
| 193 | Strabismus | Enrichment | PTPN11 | 1.22 |
| 194 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.18 |
| 195 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 1.03 |
| 196 | Thrombocytopenia | Enrichment | PTPN11 | 0.98 |
| 197 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.92 |
| 198 | Autism spectrum disorder | Enrichment | PTPN11 | 0.65 |
| 199 | Microcephaly | Enrichment | PTPN11 | 0.61 |