| 1 | Rasopathy | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RIT1, SOS1 | 16.00 |
| 2 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RIT1, SOS1 | 10.96 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RIT1, SOS1 | 10.80 |
| 4 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, KRAS, MAP2K1, NRAS | 10.33 |
| 5 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 10.26 |
| 6 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 10.26 |
| 7 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 8.55 |
| 8 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS, KRAS, NRAS, NTRK1 | 8.08 |
| 9 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 7.84 |
| 10 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 7.62 |
| 11 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 7.02 |
| 12 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS | 6.30 |
| 13 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS | 6.30 |
| 14 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, NRAS | 6.10 |
| 15 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 6.07 |
| 16 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NGF, NTRK1 | 5.64 |
| 17 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 5.59 |
| 18 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | CRKL, MAPK1 | 5.37 |
| 19 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 5.29 |
| 20 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 5.21 |
| 21 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.75 |
| 22 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 4.25 |
| 23 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS, RIT1 | 4.21 |
| 24 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 3.90 |
| 25 | Gallbladder cancer | Enrichment | BRAF, KRAS | 3.90 |
| 26 | Pilomyxoid astrocytoma | Enrichment | BRAF, KRAS | 3.90 |
| 27 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 3.66 |
| 28 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 3.57 |
| 29 | Bladder cancer | Enrichment | HRAS, KRAS | 3.47 |
| 30 | Noonan syndrome 7 | Enrichment | BRAF | 3.43 |
| 31 | Leopard syndrome 3 | Enrichment | BRAF | 3.43 |
| 32 | Lymphangioma | Enrichment | BRAF | 3.43 |
| 33 | Phace association | Enrichment | BRAF | 3.43 |
| 34 | Syringocystadenoma papilliferum | Enrichment | BRAF | 3.43 |
| 35 | Ganglioglioma | Enrichment | BRAF | 3.43 |
| 36 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 3.43 |
| 37 | Phace syndrome | Enrichment | BRAF | 3.43 |
| 38 | Classic hairy cell leukemia | Enrichment | BRAF | 3.43 |
| 39 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS | 3.40 |
| 40 | Ventriculomegaly and arthrogryposis | Enrichment | KIDINS220 | 3.29 |
| 41 | Lung cancer susceptibility 3 | Enrichment | BRAF, KRAS | 3.26 |
| 42 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 3.19 |
| 43 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 3.13 |
| 44 | Noonan syndrome 8 | Enrichment | RIT1 | 3.13 |
| 45 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 3.13 |
| 46 | Melorheostosis, isolated | Enrichment | MAP2K1 | 3.05 |
| 47 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 3.05 |
| 48 | Noonan syndrome 13 | Enrichment | MAPK1 | 3.05 |
| 49 | Melorheostosis | Enrichment | MAP2K1 | 3.05 |
| 50 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 3.05 |
| 51 | Oculoectodermal syndrome | Enrichment | KRAS | 3.02 |
| 52 | Melanosis, neurocutaneous | Enrichment | NRAS | 3.02 |
| 53 | Noonan syndrome 6 | Enrichment | NRAS | 3.02 |
| 54 | Hiatt-neu-cooper neurodevelopmental syndrome | Enrichment | RALA | 3.02 |
| 55 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 3.02 |
| 56 | Macular dystrophy, patterned, 3 | Enrichment | MAPKAPK3 | 3.02 |
| 57 | Thrombocytopenia 6 | Enrichment | SRC | 3.02 |
| 58 | Congenital pulmonary airway malformation | Enrichment | KRAS | 3.02 |
| 59 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 3.02 |
| 60 | Neurocutaneous melanocytosis | Enrichment | NRAS | 3.02 |
| 61 | Arteriovenous malformations of the brain | Enrichment | BRAF, KRAS | 2.99 |
| 62 | Spastic paraplegia, intellectual disability, nystagmus, and obesity | Enrichment | KIDINS220 | 2.99 |
| 63 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1 | 2.96 |
| 64 | Ataxia-telangiectasia | Enrichment | BRAF | 2.96 |
| 65 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.96 |
| 66 | Colorectal cancer | Enrichment | BRAF, NRAS, SRC | 2.88 |
| 67 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 2.83 |
| 68 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | RIT1 | 2.83 |
| 69 | Craniopharyngioma | Enrichment | BRAF | 2.83 |
| 70 | Noonan syndrome with multiple lentigines | Enrichment | BRAF | 2.83 |
| 71 | Newborn respiratory distress syndrome | Enrichment | BRAF | 2.83 |
| 72 | Noonan syndrome 4 | Enrichment | SOS1 | 2.83 |
| 73 | Tafro syndrome | Enrichment | MAP2K2 | 2.75 |
| 74 | Hydrops fetalis, nonimmune | Enrichment | HRAS, RIT1 | 2.72 |
| 75 | Costello syndrome | Enrichment | HRAS | 2.72 |
| 76 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.72 |
| 77 | Wooly hair nevus | Enrichment | HRAS | 2.72 |
| 78 | Wilms tumor 5 | Enrichment | BRAF | 2.66 |
| 79 | Bacteremia 2 | Enrichment | MAPKAPK3 | 2.54 |
| 80 | Spermatocytoma | Enrichment | HRAS | 2.54 |
| 81 | Lung cancer | Enrichment | BRAF, KRAS | 2.54 |
| 82 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 2.53 |
| 83 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.53 |
| 84 | Kabuki syndrome 1 | Enrichment | KIDINS220 | 2.51 |
| 85 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 2.48 |
| 86 | Primary hyperaldosteronism | Enrichment | BRAF | 2.48 |
| 87 | Ventricular septal defect | Enrichment | BRAF | 2.48 |
| 88 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 2.45 |
| 89 | Melanoma | Enrichment | BRAF | 2.43 |
| 90 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.42 |
| 91 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.42 |
| 92 | Tuberculosis | Enrichment | MAPKAPK3 | 2.42 |
| 93 | Pilocytic astrocytoma | Enrichment | KRAS | 2.42 |
| 94 | Epidermolytic nevus | Enrichment | HRAS | 2.42 |
| 95 | Nuchal bleb, familial | Enrichment | SOS1 | 2.35 |
| 96 | Heart disease | Enrichment | RIT1 | 2.29 |
| 97 | Breast cancer | Enrichment | KRAS, SHC1 | 2.27 |
| 98 | Wilms tumor 1 | Enrichment | BRAF | 2.26 |
| 99 | Breast adenocarcinoma | Enrichment | KRAS | 2.24 |
| 100 | Lung squamous cell carcinoma | Enrichment | KRAS | 2.24 |
| 101 | Gingival fibromatosis | Enrichment | SOS1 | 2.23 |
| 102 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 2.20 |
| 103 | Dandy-walker syndrome | Enrichment | BRAF | 2.20 |
| 104 | Myelofibrosis | Enrichment | SRC | 2.17 |
| 105 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 2.16 |
| 106 | Myeloma, multiple | Enrichment | BRAF, KRAS | 2.06 |
| 107 | Ovarian cancer | Enrichment | KRAS, NTRK1 | 2.02 |
| 108 | Specific learning disability | Enrichment | MAPK1 | 2.01 |
| 109 | Peripheral nervous system disease | Enrichment | NGF | 1.93 |
| 110 | Neuropathy | Enrichment | NGF | 1.93 |
| 111 | Protein-deficiency anemia | Enrichment | NRAS | 1.91 |
| 112 | Osteoporosis | Enrichment | SRC | 1.87 |
| 113 | Lynch syndrome | Enrichment | KRAS | 1.85 |
| 114 | Rhabdomyosarcoma | Enrichment | HRAS | 1.82 |
| 115 | Heart, malformation of | Enrichment | MAPK1 | 1.80 |
| 116 | Aortic valve disease 1 | Enrichment | SOS1 | 1.72 |
| 117 | Hypertelorism | Enrichment | RIT1 | 1.72 |
| 118 | Cerebral palsy | Enrichment | KIDINS220 | 1.70 |
| 119 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.69 |
| 120 | Primary ovarian insufficiency | Enrichment | NTRK1 | 1.67 |
| 121 | Malaria | Enrichment | MAPKAPK3 | 1.66 |
| 122 | Pancreatic cancer | Enrichment | KRAS | 1.63 |
| 123 | Dilated cardiomyopathy | Enrichment | BRAF | 1.54 |
| 124 | Gastric cancer | Enrichment | KRAS | 1.39 |
| 125 | Hereditary breast carcinoma | Enrichment | KRAS | 1.38 |
| 126 | Thrombocytopenia | Enrichment | SRC | 1.35 |
| 127 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 1.29 |
| 128 | Autism spectrum disorder | Enrichment | MAP2K1 | 1.03 |
| 129 | Microcephaly | Enrichment | MAPK1 | 0.98 |
| 130 | Complex neurodevelopmental disorder | Enrichment | RALA | 0.95 |