| 1 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 10.51 |
| 2 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 9.91 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS, SOS1 | 9.31 |
| 4 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 8.67 |
| 5 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS, SOS1 | 8.51 |
| 6 | Rasopathy | Enrichment | HRAS, KRAS, NRAS, SOS1 | 8.28 |
| 7 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 7.73 |
| 8 | Primary hypereosinophilic syndrome | Enrichment | ETV6, FIP1L1, PDGFRA | 7.56 |
| 9 | Differentiated thyroid carcinoma | Enrichment | ETV6, HRAS, KRAS, NRAS | 7.10 |
| 10 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 6.14 |
| 11 | Bladder cancer | Enrichment | HRAS, KRAS, PIK3CA | 5.72 |
| 12 | Chronic eosinophilic leukemia | Enrichment | FIP1L1, PDGFRA | 5.69 |
| 13 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 5.67 |
| 14 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 5.67 |
| 15 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 5.37 |
| 16 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 5.37 |
| 17 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA | 4.97 |
| 18 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 4.97 |
| 19 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 4.82 |
| 20 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 4.82 |
| 21 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.82 |
| 22 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 4.82 |
| 23 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 4.82 |
| 24 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 4.70 |
| 25 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 4.59 |
| 26 | Leukemia, acute myeloid | Enrichment | ETV6, KRAS, NRAS | 4.58 |
| 27 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 4.49 |
| 28 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 4.33 |
| 29 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 4.33 |
| 30 | Colorectal cancer | Enrichment | NRAS, PIK3CA, PIK3R1 | 4.27 |
| 31 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 4.13 |
| 32 | Ovarian cancer | Enrichment | KRAS, PDGFRA, PIK3CA | 4.08 |
| 33 | Acute promyelocytic leukemia | Enrichment | FIP1L1, STAT3 | 3.80 |
| 34 | Autosomal recessive spastic paraplegia type 60 | Enrichment | WDR48 | 3.66 |
| 35 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 3.48 |
| 36 | Diffuse large b-cell lymphoma | Enrichment | ETV6, STAT3 | 3.46 |
| 37 | Lung cancer | Enrichment | KRAS, PIK3CA | 3.46 |
| 38 | Cerebral palsy, spastic quadriplegic, 2 | Enrichment | KANK1 | 3.43 |
| 39 | Tufted angioma of skin | Enrichment | KDR | 3.43 |
| 40 | B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) | Enrichment | ETV6 | 3.43 |
| 41 | Gastric cancer | Enrichment | KRAS, PIK3CA | 3.20 |
| 42 | Hereditary breast carcinoma | Enrichment | KRAS, PIK3CA | 3.18 |
| 43 | Angioma, tufted | Enrichment | KDR | 3.13 |
| 44 | Hematologic cancer | Enrichment | ETV6 | 3.13 |
| 45 | Congenital mesoblastic nephroma | Enrichment | ETV6 | 3.13 |
| 46 | Fibrosarcoma | Enrichment | ETV6 | 3.13 |
| 47 | Macrodactyly | Enrichment | PIK3CA | 3.05 |
| 48 | Oculoectodermal syndrome | Enrichment | KRAS | 3.05 |
| 49 | Noonan syndrome 4 | Enrichment | SOS1 | 3.05 |
| 50 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 3.05 |
| 51 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 3.05 |
| 52 | Cowden syndrome 5 | Enrichment | PIK3CA | 3.05 |
| 53 | Melanosis, neurocutaneous | Enrichment | NRAS | 3.05 |
| 54 | Noonan syndrome 6 | Enrichment | NRAS | 3.05 |
| 55 | Gist-plus syndrome | Enrichment | PDGFRA | 3.05 |
| 56 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 3.05 |
| 57 | Short syndrome | Enrichment | PIK3R1 | 3.05 |
| 58 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 3.05 |
| 59 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 3.05 |
| 60 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 3.05 |
| 61 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 3.05 |
| 62 | 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 |
| 63 | Immunodeficiency 31a | Enrichment | STAT1 | 3.05 |
| 64 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 3.05 |
| 65 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 3.05 |
| 66 | Immunodeficiency 31b | Enrichment | STAT1 | 3.05 |
| 67 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 3.05 |
| 68 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 3.05 |
| 69 | Hypospadias | Enrichment | PIK3CA | 3.05 |
| 70 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 3.05 |
| 71 | Congenital pulmonary airway malformation | Enrichment | KRAS | 3.05 |
| 72 | Rare venous malformation | Enrichment | PIK3CA | 3.05 |
| 73 | Diaphragmatic eventration | Enrichment | PIK3CA | 3.05 |
| 74 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 3.05 |
| 75 | Rare combined vascular malformation | Enrichment | PIK3CA | 3.05 |
| 76 | Cavernous lymphangioma | Enrichment | PIK3CA | 3.05 |
| 77 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 3.05 |
| 78 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 3.05 |
| 79 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 3.05 |
| 80 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 3.05 |
| 81 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 3.05 |
| 82 | Macrodactyly of toe | Enrichment | PIK3CA | 3.05 |
| 83 | Neurocutaneous melanocytosis | Enrichment | NRAS | 3.05 |
| 84 | Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression | Enrichment | TNK2 | 3.05 |
| 85 | Myeloma, multiple | Enrichment | KRAS, PIK3R2 | 2.97 |
| 86 | Thrombocytopenia 5 | Enrichment | ETV6 | 2.96 |
| 87 | Chronic myelomonocytic leukemia | Enrichment | ETV6 | 2.83 |
| 88 | Spastic quadriplegic cerebral palsy | Enrichment | KANK1 | 2.83 |
| 89 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.75 |
| 90 | Costello syndrome | Enrichment | HRAS | 2.75 |
| 91 | Pulmonic stenosis | Enrichment | SOS1 | 2.75 |
| 92 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.75 |
| 93 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.75 |
| 94 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.75 |
| 95 | Immunodeficiency 31c | Enrichment | STAT1 | 2.75 |
| 96 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.75 |
| 97 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 2.75 |
| 98 | Wooly hair nevus | Enrichment | HRAS | 2.75 |
| 99 | Autosomal thrombocytopenia with normal platelets | Enrichment | ETV6 | 2.73 |
| 100 | Breast cancer | Enrichment | KRAS, PIK3CA | 2.72 |
| 101 | Hemangioma, capillary infantile | Enrichment | KDR | 2.66 |
| 102 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.58 |
| 103 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.58 |
| 104 | Nuchal bleb, familial | Enrichment | SOS1 | 2.58 |
| 105 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.58 |
| 106 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.58 |
| 107 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 2.58 |
| 108 | Hyper ige syndrome | Enrichment | STAT3 | 2.58 |
| 109 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.58 |
| 110 | Spermatocytoma | Enrichment | HRAS | 2.58 |
| 111 | Keratoacanthoma | Enrichment | PIK3CA | 2.58 |
| 112 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.45 |
| 113 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.45 |
| 114 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 2.45 |
| 115 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.45 |
| 116 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.45 |
| 117 | Cerebrovascular disease | Enrichment | PIK3CA | 2.45 |
| 118 | Pilocytic astrocytoma | Enrichment | KRAS | 2.45 |
| 119 | Epidermolytic nevus | Enrichment | HRAS | 2.45 |
| 120 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.45 |
| 121 | Gingival fibromatosis | Enrichment | SOS1 | 2.45 |
| 122 | Leukemia, acute lymphoblastic | Enrichment | ETV6 | 2.39 |
| 123 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.35 |
| 124 | Hemimegalencephaly | Enrichment | PIK3CA | 2.35 |
| 125 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 2.28 |
| 126 | Cowden syndrome 1 | Enrichment | PIK3CA | 2.28 |
| 127 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 2.28 |
| 128 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 2.28 |
| 129 | Hermansky-pudlak syndrome 1 | Enrichment | ETV6 | 2.23 |
| 130 | Gastrointestinal stromal tumor | Enrichment | PDGFRA | 2.21 |
| 131 | Pilomyxoid astrocytoma | Enrichment | KRAS | 2.21 |
| 132 | Overgrowth syndrome | Enrichment | PIK3R1 | 2.21 |
| 133 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 2.15 |
| 134 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 2.10 |
| 135 | Cowden syndrome | Enrichment | PIK3CA | 2.10 |
| 136 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 2.05 |
| 137 | Tetralogy of fallot | Enrichment | KDR | 2.02 |
| 138 | Meningioma | Enrichment | PIK3CA | 1.98 |
| 139 | Aortic valve disease 1 | Enrichment | SOS1 | 1.94 |
| 140 | Protein-deficiency anemia | Enrichment | NRAS | 1.94 |
| 141 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.94 |
| 142 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.91 |
| 143 | Cleft lip/palate | Enrichment | PDGFRA | 1.91 |
| 144 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.91 |
| 145 | Rhabdomyosarcoma | Enrichment | HRAS | 1.85 |
| 146 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.78 |
| 147 | Parkinson's disease | Enrichment | TNK2 | 1.78 |
| 148 | Thrombocytopenia | Enrichment | ETV6 | 1.76 |
| 149 | Endometrial cancer | Enrichment | PIK3CA | 1.73 |
| 150 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.71 |
| 151 | Primary ovarian insufficiency | Enrichment | KDR | 1.67 |
| 152 | Pancreatic cancer | Enrichment | KRAS | 1.66 |
| 153 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.64 |
| 154 | Prostate cancer | Enrichment | PIK3CA | 1.60 |
| 155 | Type 2 diabetes mellitus | Enrichment | IRS1 | 1.44 |
| 156 | Hypertelorism | Enrichment | PIK3CA | 1.35 |
| 157 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 1.32 |
| 158 | Inherited cancer-predisposing syndrome | Enrichment | PDGFRA | 0.96 |