| 1 | Cardiofaciocutaneous syndrome | Direct | | |
| 2 | Rasopathy | Enrichment | BRAF, MAP2K1, MAP2K2, MRAS, NF1, RAF1, SOS1, SOS2 | 11.04 |
| 3 | Noonan syndrome 1 | Enrichment | BRAF, MAP2K1, MAP2K2, MRAS, RAF1, RASA2, SOS1, SOS2 | 10.39 |
| 4 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, MAP2K1, MAP2K2, RAF1 | 10.36 |
| 5 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, MAP2K1, MAP2K2 | 9.62 |
| 6 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 6.31 |
| 7 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 6.01 |
| 8 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 5.52 |
| 9 | Pilomyxoid astrocytoma | Enrichment | BRAF, RAF1 | 5.47 |
| 10 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, RAF1 | 5.34 |
| 11 | Lung non-small cell carcinoma | Enrichment | BRAF, MAP2K1 | 5.05 |
| 12 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2, NF1 | 4.75 |
| 13 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | BCR, MAPK1 | 4.75 |
| 14 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, RASA1 | 4.20 |
| 15 | Noonan syndrome 3 | Enrichment | RAF1, SOS1 | 4.20 |
| 16 | Arteriovenous malformation | Enrichment | MAP2K1, RASA1 | 3.97 |
| 17 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, RASA1 | 3.87 |
| 18 | Noonan syndrome 5 | Enrichment | RAF1 | 3.35 |
| 19 | Melorheostosis, isolated | Enrichment | MAP2K1 | 3.35 |
| 20 | Noonan syndrome 7 | Enrichment | BRAF | 3.35 |
| 21 | Leopard syndrome 3 | Enrichment | BRAF | 3.35 |
| 22 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 3.35 |
| 23 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 3.35 |
| 24 | Noonan syndrome 13 | Enrichment | MAPK1 | 3.35 |
| 25 | Lymphangioma | Enrichment | BRAF | 3.35 |
| 26 | Phace association | Enrichment | BRAF | 3.35 |
| 27 | Melorheostosis | Enrichment | MAP2K1 | 3.35 |
| 28 | Leopard syndrome 2 | Enrichment | RAF1 | 3.35 |
| 29 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 3.35 |
| 30 | Trigonitis | Enrichment | RAF1 | 3.35 |
| 31 | Syringocystadenoma papilliferum | Enrichment | BRAF | 3.35 |
| 32 | Ganglioglioma | Enrichment | BRAF | 3.35 |
| 33 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 3.35 |
| 34 | Phace syndrome | Enrichment | BRAF | 3.35 |
| 35 | Classic hairy cell leukemia | Enrichment | BRAF | 3.35 |
| 36 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 3.29 |
| 37 | Tafro syndrome | Enrichment | MAP2K2 | 3.05 |
| 38 | Ataxia-telangiectasia | Enrichment | BRAF | 2.88 |
| 39 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.88 |
| 40 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 2.75 |
| 41 | Craniopharyngioma | Enrichment | BRAF | 2.75 |
| 42 | Newborn respiratory distress syndrome | Enrichment | BRAF | 2.75 |
| 43 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.75 |
| 44 | Bleeding disorder, platelet-type, 18 | Enrichment | RASGRP2 | 2.75 |
| 45 | Immunodeficiency 64 with lymphoproliferation | Enrichment | RASGRP1 | 2.75 |
| 46 | Immunodeficiency 22 | Enrichment | LCK | 2.75 |
| 47 | Thrombocytopenia 6 | Enrichment | SRC | 2.75 |
| 48 | Plexiform neurofibroma | Enrichment | NF1 | 2.75 |
| 49 | Neurofibroma | Enrichment | NF1 | 2.75 |
| 50 | Neurofibromatosis | Enrichment | NF1 | 2.75 |
| 51 | Chromosome 17q11.2 deletion syndrome | Enrichment | NF1 | 2.75 |
| 52 | Optic nerve glioma | Enrichment | NF1 | 2.75 |
| 53 | Immunodeficiency 64 | Enrichment | RASGRP1 | 2.75 |
| 54 | Gorham's disease | Enrichment | RASA1 | 2.75 |
| 55 | Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency | Enrichment | RASGRP1 | 2.75 |
| 56 | Pallister-killian syndrome | Enrichment | ARAF | 2.75 |
| 57 | Noonan syndrome 4 | Enrichment | SOS1 | 2.75 |
| 58 | Noonan syndrome 9 | Enrichment | SOS2 | 2.75 |
| 59 | Noonan syndrome 11 | Enrichment | MRAS | 2.75 |
| 60 | Wilms tumor 5 | Enrichment | BRAF | 2.58 |
| 61 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF | 2.51 |
| 62 | Gallbladder cancer | Enrichment | BRAF | 2.51 |
| 63 | Follicular thyroid carcinoma | Enrichment | BRAF | 2.51 |
| 64 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 2.45 |
| 65 | Cafe-au-lait spots, multiple | Enrichment | NF1 | 2.45 |
| 66 | Myopia 28, autosomal recessive | Enrichment | DOK1 | 2.45 |
| 67 | Noonan syndrome 12 | Enrichment | RRAS2 | 2.45 |
| 68 | Chromosome 17q11.2 duplication syndrome, 1.4-mb | Enrichment | NF1 | 2.45 |
| 69 | Bardet-biedl syndrome 9 | Enrichment | NF1 | 2.45 |
| 70 | Pleomorphic rhabdomyosarcoma | Enrichment | NF1 | 2.45 |
| 71 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.45 |
| 72 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 2.40 |
| 73 | Primary hyperaldosteronism | Enrichment | BRAF | 2.40 |
| 74 | Ventricular septal defect | Enrichment | BRAF | 2.40 |
| 75 | Myeloma, multiple | Enrichment | BRAF, NF1 | 2.36 |
| 76 | Melanoma | Enrichment | BRAF | 2.35 |
| 77 | Specific learning disability | Enrichment | MAPK1 | 2.31 |
| 78 | Lip and oral cavity carcinoma | Enrichment | BRAF | 2.28 |
| 79 | Watson syndrome | Enrichment | NF1 | 2.28 |
| 80 | Neurofibromatosis, familial spinal | Enrichment | NF1 | 2.28 |
| 81 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | BCR | 2.28 |
| 82 | Chromosome 17q11.2 deletion syndrome, 1.4-mb | Enrichment | NF1 | 2.28 |
| 83 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.28 |
| 84 | Brain cancer | Enrichment | NF1 | 2.28 |
| 85 | Nuchal bleb, familial | Enrichment | SOS1 | 2.28 |
| 86 | Lung cancer susceptibility 3 | Enrichment | BRAF | 2.21 |
| 87 | Wilms tumor 1 | Enrichment | BRAF | 2.18 |
| 88 | Embryonal rhabdomyosarcoma | Enrichment | NF1 | 2.15 |
| 89 | Pilocytic astrocytoma | Enrichment | NF1 | 2.15 |
| 90 | Middle aortic syndrome | Enrichment | NF1 | 2.15 |
| 91 | Gingival fibromatosis | Enrichment | SOS1 | 2.15 |
| 92 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 2.15 |
| 93 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 2.13 |
| 94 | Dandy-walker syndrome | Enrichment | BRAF | 2.13 |
| 95 | Heart, malformation of | Enrichment | MAPK1 | 2.10 |
| 96 | Arteriovenous malformations of the brain | Enrichment | BRAF | 2.08 |
| 97 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 2.08 |
| 98 | Capillary malformations, congenital | Enrichment | RASA1 | 2.05 |
| 99 | Rhabdomyosarcoma 2 | Enrichment | NF1 | 2.05 |
| 100 | Colorectal cancer | Enrichment | BRAF, SRC | 1.99 |
| 101 | Klippel-trenaunay-weber syndrome | Enrichment | RASA1 | 1.98 |
| 102 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.98 |
| 103 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.98 |
| 104 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.98 |
| 105 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.98 |
| 106 | Myelofibrosis | Enrichment | SRC | 1.91 |
| 107 | Leukemia, chronic myeloid | Enrichment | BCR | 1.91 |
| 108 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.91 |
| 109 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | BCR | 1.91 |
| 110 | Differentiated thyroid carcinoma | Enrichment | BRAF | 1.89 |
| 111 | Ewing sarcoma | Enrichment | NF1 | 1.85 |
| 112 | Lung cancer | Enrichment | BRAF | 1.85 |
| 113 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.84 |
| 114 | Left ventricular noncompaction | Enrichment | RAF1 | 1.81 |
| 115 | Autism spectrum disorder | Enrichment | MAP2K1, NF1 | 1.80 |
| 116 | Neurofibromatosis, type i | Enrichment | NF1 | 1.80 |
| 117 | Leukemia, acute lymphoblastic 3 | Enrichment | NF1 | 1.80 |
| 118 | Juvenile myelomonocytic leukemia | Enrichment | NF1 | 1.68 |
| 119 | Aortic valve disease 1 | Enrichment | SOS1 | 1.64 |
| 120 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 1.63 |
| 121 | Osteoporosis | Enrichment | SRC | 1.61 |
| 122 | Pheochromocytoma | Enrichment | NF1 | 1.61 |
| 123 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.61 |
| 124 | Rhabdomyosarcoma | Enrichment | NF1 | 1.55 |
| 125 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | NF1 | 1.44 |
| 126 | Skin disease | Enrichment | NF1 | 1.42 |
| 127 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | BCR | 1.40 |
| 128 | Bladder cancer | Enrichment | NF1 | 1.30 |
| 129 | Microcephaly | Enrichment | MAPK1 | 1.27 |
| 130 | Severe combined immunodeficiency | Enrichment | LCK | 1.25 |
| 131 | Gastric cancer | Enrichment | NF1 | 1.13 |
| 132 | Thrombocytopenia | Enrichment | SRC | 1.09 |
| 133 | Hereditary breast ovarian cancer syndrome | Enrichment | NF1 | 1.03 |
| 134 | Ovarian cancer | Enrichment | RRAS2 | 0.78 |
| 135 | Inherited cancer-predisposing syndrome | Enrichment | NF1 | 0.68 |