| 1 | Rasopathy | Enrichment | HRAS, MAP2K1, PTPN11, RAF1, SOS1, SOS2 | 11.23 |
| 2 | Noonan syndrome 1 | Enrichment | HRAS, MAP2K1, PTPN11, RAF1, SOS1, SOS2 | 10.45 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, MAP2K1, PTPN11, RAF1, SOS1 | 10.02 |
| 4 | Noonan syndrome 3 | Enrichment | HRAS, PTPN11, RAF1, SOS1 | 9.28 |
| 5 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2, STAT3 | 4.91 |
| 6 | Leptin deficiency or dysfunction | Enrichment | LEP, LEPR | 4.61 |
| 7 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11, RAF1 | 4.61 |
| 8 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 3.94 |
| 9 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 3.83 |
| 10 | Noonan syndrome 13 | Enrichment | MAPK1 | 3.83 |
| 11 | Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder | Enrichment | PLA2G4A | 3.83 |
| 12 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets | Enrichment | PLA2G4A | 3.83 |
| 13 | Cryptogenic multifocal ulcerous stenosing enteritis | Enrichment | PLA2G4A | 3.83 |
| 14 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 3.74 |
| 15 | Lung non-small cell carcinoma | Enrichment | HRAS, MAP2K1 | 3.65 |
| 16 | Specific learning disability | Enrichment | MAPK1, PTPN11 | 3.65 |
| 17 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 3.23 |
| 18 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 2.89 |
| 19 | Non-immune hydrops fetalis | Enrichment | HRAS, PTPN11 | 2.73 |
| 20 | Metachondromatosis | Enrichment | PTPN11 | 2.69 |
| 21 | Thyrotropin-releasing hormone deficiency | Enrichment | TRH | 2.69 |
| 22 | Noonan syndrome 5 | Enrichment | RAF1 | 2.69 |
| 23 | Noonan syndrome 4 | Enrichment | SOS1 | 2.69 |
| 24 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.69 |
| 25 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 2.69 |
| 26 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.69 |
| 27 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.69 |
| 28 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.69 |
| 29 | Noonan syndrome 9 | Enrichment | SOS2 | 2.69 |
| 30 | Auriculocondylar syndrome 3 | Enrichment | EDN1 | 2.69 |
| 31 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.69 |
| 32 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.69 |
| 33 | Thrombocytopenia 4 | Enrichment | CYCS | 2.69 |
| 34 | Question mark ears, isolated | Enrichment | EDN1 | 2.69 |
| 35 | Melorheostosis | Enrichment | MAP2K1 | 2.69 |
| 36 | Leopard syndrome 2 | Enrichment | RAF1 | 2.69 |
| 37 | Leptin receptor deficiency | Enrichment | LEPR | 2.69 |
| 38 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.69 |
| 39 | Trigonitis | Enrichment | RAF1 | 2.69 |
| 40 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.69 |
| 41 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.69 |
| 42 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.69 |
| 43 | Malignant astrocytoma | Enrichment | PTPN11 | 2.69 |
| 44 | Heart, malformation of | Enrichment | MAPK1 | 2.58 |
| 45 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.38 |
| 46 | Costello syndrome | Enrichment | HRAS | 2.38 |
| 47 | Pulmonic stenosis | Enrichment | SOS1 | 2.38 |
| 48 | Thrombocythemia 3 | Enrichment | JAK2 | 2.38 |
| 49 | Werner syndrome | Enrichment | PTPN11 | 2.38 |
| 50 | Polycythemia | Enrichment | JAK2 | 2.38 |
| 51 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.38 |
| 52 | Wooly hair nevus | Enrichment | HRAS | 2.38 |
| 53 | Thrombocytopenia | Enrichment | CYCS, PTPN11 | 2.36 |
| 54 | Body mass index quantitative trait locus 11 | Enrichment | LEPR, POMC | 2.32 |
| 55 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.21 |
| 56 | Polycythemia vera | Enrichment | JAK2 | 2.21 |
| 57 | Obesity, early-onset, with adrenal insufficiency and red hair | Enrichment | POMC | 2.21 |
| 58 | Nuchal bleb, familial | Enrichment | SOS1 | 2.21 |
| 59 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 2.21 |
| 60 | Large congenital melanocytic nevus | Enrichment | HRAS | 2.21 |
| 61 | Hyper ige syndrome | Enrichment | STAT3 | 2.21 |
| 62 | Spermatocytoma | Enrichment | HRAS | 2.21 |
| 63 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.21 |
| 64 | Enchondromatosis | Enrichment | HIF1A | 2.21 |
| 65 | Obesity due to pro-opiomelanocortin deficiency | Enrichment | POMC | 2.21 |
| 66 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 2.08 |
| 67 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 2.08 |
| 68 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 2.08 |
| 69 | Budd-chiari syndrome | Enrichment | JAK2 | 2.08 |
| 70 | Auriculocondylar syndrome 1 | Enrichment | EDN1 | 2.08 |
| 71 | Congenital generalized lipodystrophy | Enrichment | FOS | 2.08 |
| 72 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 2.08 |
| 73 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 2.08 |
| 74 | Epidermolytic nevus | Enrichment | HRAS | 2.08 |
| 75 | Gingival fibromatosis | Enrichment | SOS1 | 2.08 |
| 76 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 2.08 |
| 77 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.99 |
| 78 | Lymphoma | Enrichment | PTPN11 | 1.99 |
| 79 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.99 |
| 80 | Histiocytoid hemangioma | Enrichment | FOS | 1.99 |
| 81 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 1.99 |
| 82 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.91 |
| 83 | Nevus, epidermal | Enrichment | HRAS | 1.84 |
| 84 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.84 |
| 85 | Myelofibrosis | Enrichment | JAK2 | 1.84 |
| 86 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.84 |
| 87 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.84 |
| 88 | Essential thrombocythemia | Enrichment | JAK2 | 1.84 |
| 89 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.84 |
| 90 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.84 |
| 91 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.79 |
| 92 | Microcephaly | Enrichment | MAPK1 | 1.74 |
| 93 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.73 |
| 94 | Autism spectrum disorder | Enrichment | MAP2K1, PTPN11 | 1.68 |
| 95 | Pectus excavatum | Enrichment | PTPN11 | 1.65 |
| 96 | Epicanthus | Enrichment | PTPN11 | 1.61 |
| 97 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.61 |
| 98 | Lip and oral cavity carcinoma | Enrichment | HRAS | 1.61 |
| 99 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.61 |
| 100 | Aortic valve disease 1 | Enrichment | SOS1 | 1.58 |
| 101 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.58 |
| 102 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.54 |
| 103 | Rhabdomyosarcoma | Enrichment | HRAS | 1.49 |
| 104 | Patent foramen ovale | Enrichment | PTPN11 | 1.44 |
| 105 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 1.41 |
| 106 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.31 |
| 107 | Scoliosis | Enrichment | PTPN11 | 1.31 |
| 108 | Strabismus | Enrichment | PTPN11 | 1.27 |
| 109 | Bladder cancer | Enrichment | HRAS | 1.23 |
| 110 | Differentiated thyroid carcinoma | Enrichment | HRAS | 1.23 |
| 111 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.22 |
| 112 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.18 |
| 113 | Left ventricular noncompaction | Enrichment | RAF1 | 1.16 |
| 114 | Leukemia, acute myeloid | Enrichment | JAK2 | 1.10 |
| 115 | Type 2 diabetes mellitus | Enrichment | PTPN1 | 1.08 |
| 116 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 1.07 |
| 117 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.98 |
| 118 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.96 |
| 119 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.94 |
| 120 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.82 |
| 121 | Inherited cancer-predisposing syndrome | Enrichment | PTPN11 | 0.62 |