| 1 | Rasopathy | Enrichment | HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS2 | 16.00 |
| 2 | Noonan syndrome 1 | Enrichment | HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS2 | 10.82 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1 | 10.54 |
| 4 | Noonan syndrome 3 | Enrichment | HRAS, PTPN11, RAF1, SOS1 | 8.98 |
| 5 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, STAT3 | 4.76 |
| 6 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1, MAP2K2 | 4.46 |
| 7 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1, MAP2K2 | 4.46 |
| 8 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11, RAF1 | 4.46 |
| 9 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 3.92 |
| 10 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 3.80 |
| 11 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 3.69 |
| 12 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 3.59 |
| 13 | Lung non-small cell carcinoma | Enrichment | HRAS, MAP2K1 | 3.51 |
| 14 | Specific learning disability | Enrichment | MAPK1, PTPN11 | 3.51 |
| 15 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 2.75 |
| 16 | Metachondromatosis | Enrichment | PTPN11 | 2.61 |
| 17 | Noonan syndrome 5 | Enrichment | RAF1 | 2.61 |
| 18 | Noonan syndrome 4 | Enrichment | SOS1 | 2.61 |
| 19 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.61 |
| 20 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 2.61 |
| 21 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.61 |
| 22 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.61 |
| 23 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.61 |
| 24 | Noonan syndrome 9 | Enrichment | SOS2 | 2.61 |
| 25 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.61 |
| 26 | Stuve-wiedemann syndrome 2 | Enrichment | IL6ST | 2.61 |
| 27 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.61 |
| 28 | Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections | Enrichment | IL6ST | 2.61 |
| 29 | Immunodeficiency 92 | Enrichment | REL | 2.61 |
| 30 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.61 |
| 31 | Alzheimer disease 18 | Enrichment | ADAM10 | 2.61 |
| 32 | Melorheostosis | Enrichment | MAP2K1 | 2.61 |
| 33 | Leopard syndrome 2 | Enrichment | RAF1 | 2.61 |
| 34 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.61 |
| 35 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.61 |
| 36 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.61 |
| 37 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.61 |
| 38 | Reticulate acropigmentation of kitamura | Enrichment | ADAM10 | 2.61 |
| 39 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.61 |
| 40 | Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections | Enrichment | IL6ST | 2.61 |
| 41 | Immunodeficiency 94 with autoinflammation and dysmorphic facies | Enrichment | IL6ST | 2.61 |
| 42 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.61 |
| 43 | Immunodeficiency 53 | Enrichment | RELB | 2.61 |
| 44 | Trigonitis | Enrichment | RAF1 | 2.61 |
| 45 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.61 |
| 46 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.61 |
| 47 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.61 |
| 48 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.61 |
| 49 | Malignant astrocytoma | Enrichment | PTPN11 | 2.61 |
| 50 | Non-immune hydrops fetalis | Enrichment | HRAS, PTPN11 | 2.59 |
| 51 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.31 |
| 52 | Costello syndrome | Enrichment | HRAS | 2.31 |
| 53 | Galactosemia ii | Enrichment | NR3C1 | 2.31 |
| 54 | Pulmonic stenosis | Enrichment | SOS1 | 2.31 |
| 55 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.31 |
| 56 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.31 |
| 57 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 2.31 |
| 58 | Werner syndrome | Enrichment | PTPN11 | 2.31 |
| 59 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.31 |
| 60 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.31 |
| 61 | Inflammatory skin and bowel disease, neonatal, 1 | Enrichment | ADAM17 | 2.31 |
| 62 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.31 |
| 63 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.31 |
| 64 | Tafro syndrome | Enrichment | MAP2K2 | 2.31 |
| 65 | Wooly hair nevus | Enrichment | HRAS | 2.31 |
| 66 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.14 |
| 67 | Stuve-wiedemann syndrome 1 | Enrichment | IL6ST | 2.14 |
| 68 | Nuchal bleb, familial | Enrichment | SOS1 | 2.14 |
| 69 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 2.14 |
| 70 | Large congenital melanocytic nevus | Enrichment | HRAS | 2.14 |
| 71 | Hyper ige syndrome | Enrichment | STAT3 | 2.14 |
| 72 | Spermatocytoma | Enrichment | HRAS | 2.14 |
| 73 | Neonatal inflammatory skin and bowel disease | Enrichment | ADAM17 | 2.14 |
| 74 | Melanoma of soft tissue | Enrichment | CREB1 | 2.14 |
| 75 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.14 |
| 76 | Stüve-wiedemann syndrome | Enrichment | IL6ST | 2.14 |
| 77 | Kaposi sarcoma | Enrichment | IL6 | 2.01 |
| 78 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 2.01 |
| 79 | Dowling-degos disease 1 | Enrichment | ADAM10 | 2.01 |
| 80 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 2.01 |
| 81 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.01 |
| 82 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 2.01 |
| 83 | Congenital generalized lipodystrophy | Enrichment | FOS | 2.01 |
| 84 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 2.01 |
| 85 | Epidermolytic nevus | Enrichment | HRAS | 2.01 |
| 86 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 2.01 |
| 87 | Gingival fibromatosis | Enrichment | SOS1 | 2.01 |
| 88 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 2.01 |
| 89 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.92 |
| 90 | Lymphoma | Enrichment | PTPN11 | 1.92 |
| 91 | Histiocytoid hemangioma | Enrichment | FOS | 1.92 |
| 92 | Breast cancer | Enrichment | JUN, SHC1 | 1.85 |
| 93 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.84 |
| 94 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.84 |
| 95 | Nevus, epidermal | Enrichment | HRAS | 1.77 |
| 96 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.77 |
| 97 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.77 |
| 98 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.77 |
| 99 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.77 |
| 100 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.71 |
| 101 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.66 |
| 102 | Primary hyperaldosteronism | Enrichment | NR3C1 | 1.66 |
| 103 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.62 |
| 104 | Pectus excavatum | Enrichment | PTPN11 | 1.58 |
| 105 | Autism spectrum disorder | Enrichment | MAP2K1, PTPN11 | 1.54 |
| 106 | Epicanthus | Enrichment | PTPN11 | 1.54 |
| 107 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.54 |
| 108 | Lip and oral cavity carcinoma | Enrichment | HRAS | 1.54 |
| 109 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.54 |
| 110 | Aortic valve disease 1 | Enrichment | SOS1 | 1.51 |
| 111 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.51 |
| 112 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.47 |
| 113 | Microcephaly | Enrichment | MAPK1, PTPN11 | 1.45 |
| 114 | Rhabdomyosarcoma | Enrichment | HRAS | 1.42 |
| 115 | Heart, malformation of | Enrichment | MAPK1 | 1.37 |
| 116 | Patent foramen ovale | Enrichment | PTPN11 | 1.37 |
| 117 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.34 |
| 118 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 1.34 |
| 119 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.25 |
| 120 | Scoliosis | Enrichment | PTPN11 | 1.25 |
| 121 | Strabismus | Enrichment | PTPN11 | 1.20 |
| 122 | Bladder cancer | Enrichment | HRAS | 1.17 |
| 123 | Differentiated thyroid carcinoma | Enrichment | HRAS | 1.17 |
| 124 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.15 |
| 125 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.11 |
| 126 | Left ventricular noncompaction | Enrichment | RAF1 | 1.09 |
| 127 | Type 2 diabetes mellitus | Enrichment | IL6 | 1.01 |
| 128 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 1.00 |
| 129 | Thrombocytopenia | Enrichment | PTPN11 | 0.96 |
| 130 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.92 |
| 131 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.89 |
| 132 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.75 |
| 133 | Inherited cancer-predisposing syndrome | Enrichment | PTPN11 | 0.56 |