| 1 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.20 |
| 2 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 6.26 |
| 3 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS | 5.59 |
| 4 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.19 |
| 5 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS | 5.15 |
| 6 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.71 |
| 7 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2, STAT3 | 4.71 |
| 8 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS | 4.57 |
| 9 | Erythrocytosis, familial, 1 | Enrichment | EPOR, JAK2 | 4.41 |
| 10 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, CCND2 | 4.41 |
| 11 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.41 |
| 12 | Rasopathy | Enrichment | HRAS, KRAS, NRAS | 4.41 |
| 13 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 4.26 |
| 14 | Hemimegalencephaly | Enrichment | AKT3, MTOR | 4.19 |
| 15 | Breast adenocarcinoma | Enrichment | AKT1, KRAS | 4.02 |
| 16 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 3.87 |
| 17 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.87 |
| 18 | Noonan syndrome 3 | Enrichment | HRAS, KRAS | 3.87 |
| 19 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 3.87 |
| 20 | Leukemia, acute myeloid | Enrichment | JAK2, KRAS, NRAS | 3.84 |
| 21 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 3.75 |
| 22 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 3.38 |
| 23 | Acute promyelocytic leukemia | Enrichment | STAT3, STAT5B | 3.30 |
| 24 | Arteriovenous malformations of the brain | Enrichment | IL6, KRAS | 2.97 |
| 25 | Diffuse large b-cell lymphoma | Enrichment | SOCS1, STAT3 | 2.97 |
| 26 | Colorectal cancer | Enrichment | AKT1, CCND1, NRAS | 2.84 |
| 27 | Bladder cancer | Enrichment | HRAS, KRAS | 2.60 |
| 28 | Proteus syndrome | Enrichment | AKT1 | 2.59 |
| 29 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.59 |
| 30 | Oculoectodermal syndrome | Enrichment | KRAS | 2.59 |
| 31 | Helicobacter pylori infection | Enrichment | IFNGR1 | 2.59 |
| 32 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.59 |
| 33 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 2.59 |
| 34 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 2.59 |
| 35 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.59 |
| 36 | Multiple fibroadenomas of the breast | Enrichment | PRLR | 2.59 |
| 37 | Noonan syndrome 6 | Enrichment | NRAS | 2.59 |
| 38 | Microvascular complications of diabetes 2 | Enrichment | EPO | 2.59 |
| 39 | Immunodeficiency 27a | Enrichment | IFNGR1 | 2.59 |
| 40 | Immunodeficiency 69 | Enrichment | IFNG | 2.59 |
| 41 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.59 |
| 42 | Laron syndrome | Enrichment | GHR | 2.59 |
| 43 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.59 |
| 44 | Hyperprolactinemia | Enrichment | PRLR | 2.59 |
| 45 | Growth hormone insensitivity, partial | Enrichment | GHR | 2.59 |
| 46 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.59 |
| 47 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.59 |
| 48 | Immunodeficiency 27b | Enrichment | IFNGR1 | 2.59 |
| 49 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.59 |
| 50 | Immunodeficiency 31a | Enrichment | STAT1 | 2.59 |
| 51 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.59 |
| 52 | Cowden syndrome 6 | Enrichment | AKT1 | 2.59 |
| 53 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.59 |
| 54 | Immunodeficiency 31b | Enrichment | STAT1 | 2.59 |
| 55 | Erythrocytosis, familial, 5 | Enrichment | EPO | 2.59 |
| 56 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.59 |
| 57 | Capillary hemangioma | Enrichment | AKT3 | 2.59 |
| 58 | Familial hyperprolactinemia | Enrichment | PRLR | 2.59 |
| 59 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.59 |
| 60 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.59 |
| 61 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.59 |
| 62 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency | Enrichment | IFNGR2 | 2.59 |
| 63 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.59 |
| 64 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.59 |
| 65 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.59 |
| 66 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.54 |
| 67 | Costello syndrome | Enrichment | HRAS | 2.29 |
| 68 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.29 |
| 69 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.29 |
| 70 | Growth hormone deficiency, isolated partial | Enrichment | GHR | 2.29 |
| 71 | Thrombocythemia 3 | Enrichment | JAK2 | 2.29 |
| 72 | Immunodeficiency 31c | Enrichment | STAT1 | 2.29 |
| 73 | Diamond-blackfan anemia-like | Enrichment | EPO | 2.29 |
| 74 | Cebalid syndrome | Enrichment | MTOR | 2.29 |
| 75 | Kowarski syndrome | Enrichment | GH1 | 2.29 |
| 76 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.29 |
| 77 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.29 |
| 78 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.29 |
| 79 | Polycythemia | Enrichment | JAK2 | 2.29 |
| 80 | Short stature due to growth hormone qualitative anomaly | Enrichment | GH1 | 2.29 |
| 81 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.29 |
| 82 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.29 |
| 83 | Wooly hair nevus | Enrichment | HRAS | 2.29 |
| 84 | Type 2 diabetes mellitus | Enrichment | AKT2, IL6 | 2.28 |
| 85 | Gastric cancer | Enrichment | CDK4, KRAS | 2.26 |
| 86 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS | 2.24 |
| 87 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.11 |
| 88 | Immune thrombocytopenia | Enrichment | SOCS1 | 2.11 |
| 89 | Polycythemia vera | Enrichment | JAK2 | 2.11 |
| 90 | Tuberous sclerosis 1 | Enrichment | IFNG | 2.11 |
| 91 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.11 |
| 92 | Hepatitis c virus | Enrichment | IFNG | 2.11 |
| 93 | Tuberous sclerosis 2 | Enrichment | IFNG | 2.11 |
| 94 | Immunodeficiency 28 | Enrichment | IFNGR2 | 2.11 |
| 95 | Autoinflammatory syndrome, familial, with or without immunodeficiency | Enrichment | SOCS1 | 2.11 |
| 96 | Primary polycythemia | Enrichment | EPOR | 2.11 |
| 97 | Bacteremia 2 | Enrichment | CISH | 2.11 |
| 98 | Hyper ige syndrome | Enrichment | STAT3 | 2.11 |
| 99 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 2.11 |
| 100 | Isolated growth hormone deficiency, type ib | Enrichment | GH1 | 2.11 |
| 101 | Spermatocytoma | Enrichment | HRAS | 2.11 |
| 102 | Well-differentiated liposarcoma | Enrichment | CDK4 | 2.11 |
| 103 | Myeloma, multiple | Enrichment | CCND1, KRAS | 2.04 |
| 104 | Primary ovarian insufficiency | Enrichment | JAK2, PRLR | 2.00 |
| 105 | Kaposi sarcoma | Enrichment | IL6 | 1.99 |
| 106 | Isolated growth hormone deficiency, type ii | Enrichment | GH1 | 1.99 |
| 107 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 1.99 |
| 108 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.99 |
| 109 | Anemia, autoimmune hemolytic | Enrichment | SOCS1 | 1.99 |
| 110 | Budd-chiari syndrome | Enrichment | JAK2 | 1.99 |
| 111 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3 | 1.99 |
| 112 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.99 |
| 113 | Mantle cell lymphoma | Enrichment | CCND1 | 1.99 |
| 114 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 1.99 |
| 115 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.99 |
| 116 | Hepatitis b | Enrichment | IFNGR1 | 1.99 |
| 117 | Tuberculosis | Enrichment | CISH | 1.99 |
| 118 | Pilocytic astrocytoma | Enrichment | KRAS | 1.99 |
| 119 | Epidermolytic nevus | Enrichment | HRAS | 1.99 |
| 120 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.99 |
| 121 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.99 |
| 122 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.89 |
| 123 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.89 |
| 124 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.89 |
| 125 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.89 |
| 126 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.81 |
| 127 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.81 |
| 128 | Lung squamous cell carcinoma | Enrichment | KRAS | 1.81 |
| 129 | Autosomal dominant secondary polycythemia | Enrichment | EPO | 1.81 |
| 130 | Breast cancer | Enrichment | AKT1, KRAS | 1.80 |
| 131 | Myelofibrosis | Enrichment | JAK2 | 1.75 |
| 132 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS | 1.75 |
| 133 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.75 |
| 134 | Essential thrombocythemia | Enrichment | JAK2 | 1.75 |
| 135 | Gallbladder cancer | Enrichment | KRAS | 1.75 |
| 136 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.75 |
| 137 | Megacolon | Enrichment | AKT3 | 1.75 |
| 138 | Overgrowth syndrome | Enrichment | MTOR | 1.75 |
| 139 | Isolated growth hormone deficiency, type ia | Enrichment | GH1 | 1.69 |
| 140 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.69 |
| 141 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.64 |
| 142 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.64 |
| 143 | Arteriovenous malformation | Enrichment | HRAS | 1.64 |
| 144 | Cowden syndrome | Enrichment | AKT1 | 1.64 |
| 145 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.59 |
| 146 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS | 1.59 |
| 147 | Aplastic anemia | Enrichment | IFNG | 1.59 |
| 148 | Polymicrogyria | Enrichment | AKT3 | 1.59 |
| 149 | Ovarian cancer | Enrichment | AKT1, KRAS | 1.56 |
| 150 | Specific learning disability | Enrichment | GHR | 1.55 |
| 151 | Meningioma | Enrichment | AKT1 | 1.52 |
| 152 | Lip and oral cavity carcinoma | Enrichment | HRAS | 1.52 |
| 153 | Hypercholesterolemia, familial, 1 | Enrichment | GHR | 1.48 |
| 154 | Protein-deficiency anemia | Enrichment | NRAS | 1.48 |
| 155 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.45 |
| 156 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.42 |
| 157 | Familial hypercholesterolemia | Enrichment | GHR | 1.42 |
| 158 | Lynch syndrome | Enrichment | KRAS | 1.42 |
| 159 | Rare genetic intellectual disability | Enrichment | MTOR | 1.42 |
| 160 | Rhabdomyosarcoma | Enrichment | HRAS | 1.39 |
| 161 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4 | 1.37 |
| 162 | Human immunodeficiency virus type 1 | Enrichment | IFNG | 1.34 |
| 163 | Behcet syndrome | Enrichment | IFNGR1 | 1.32 |
| 164 | Malaria | Enrichment | CISH | 1.24 |
| 165 | Pancreatic cancer | Enrichment | KRAS | 1.20 |
| 166 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.19 |
| 167 | Lung cancer | Enrichment | KRAS | 1.10 |
| 168 | Systemic lupus erythematosus | Enrichment | SOCS1 | 1.02 |
| 169 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.88 |
| 170 | Inherited cancer-predisposing syndrome | Enrichment | CDK4 | 0.54 |