| 1 | Lung non-small cell carcinoma | Enrichment | EGFR, HRAS, KRAS, MAP2K1, NRAS | 10.46 |
| 2 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, MAP2K1, NRAS, RAF1 | 9.87 |
| 3 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, MAP2K1, NRAS, RAF1 | 8.91 |
| 4 | Rasopathy | Enrichment | HRAS, KRAS, MAP2K1, NRAS, RAF1 | 8.63 |
| 5 | Bladder cancer | Enrichment | CDKN1A, EGFR, HRAS, KRAS, RB1 | 8.37 |
| 6 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.41 |
| 7 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 6.47 |
| 8 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1 | 6.47 |
| 9 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS, RAF1 | 6.27 |
| 10 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS, RB1 | 5.67 |
| 11 | Lung cancer susceptibility 3 | Enrichment | EGFR, KRAS, RB1 | 5.46 |
| 12 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.33 |
| 13 | Langerhans cell histiocytosis | Enrichment | MAP2K1, NRAS | 4.85 |
| 14 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.85 |
| 15 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS, MAP2K1 | 4.55 |
| 16 | Cardiofaciocutaneous syndrome | Enrichment | KRAS, MAP2K1 | 4.55 |
| 17 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.55 |
| 18 | Cerebral malaria | Enrichment | CD36, TNF | 4.55 |
| 19 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 4.46 |
| 20 | Lung cancer | Enrichment | EGFR, KRAS, NFE2L2 | 4.33 |
| 21 | Ovarian cancer | Enrichment | CDKN1B, EGFR, KRAS, RB1 | 4.17 |
| 22 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS | 4.15 |
| 23 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B | 4.01 |
| 24 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 4.01 |
| 25 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 4.01 |
| 26 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.01 |
| 27 | Pilomyxoid astrocytoma | Enrichment | KRAS, RAF1 | 4.01 |
| 28 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 4.01 |
| 29 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 3.77 |
| 30 | Inherited cancer-predisposing syndrome | Enrichment | AIP, CDKN1B, EGFR, RB1 | 3.71 |
| 31 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 3.68 |
| 32 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 3.51 |
| 33 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 3.10 |
| 34 | Malaria | Enrichment | CD36, TNF | 2.93 |
| 35 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.68 |
| 36 | Oculoectodermal syndrome | Enrichment | KRAS | 2.66 |
| 37 | Suppression of tumorigenicity 12 | Enrichment | KLF6 | 2.66 |
| 38 | Noonan syndrome 5 | Enrichment | RAF1 | 2.66 |
| 39 | Coronary heart disease 7 | Enrichment | CD36 | 2.66 |
| 40 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.66 |
| 41 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.66 |
| 42 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.66 |
| 43 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.66 |
| 44 | Noonan syndrome 6 | Enrichment | NRAS | 2.66 |
| 45 | Retinitis pigmentosa 85 | Enrichment | AHR | 2.66 |
| 46 | Immunodeficiency, developmental delay, and hypohomocysteinemia | Enrichment | NFE2L2 | 2.66 |
| 47 | Foveal hypoplasia 3 | Enrichment | AHR | 2.66 |
| 48 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.66 |
| 49 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.66 |
| 50 | Melorheostosis | Enrichment | MAP2K1 | 2.66 |
| 51 | Platelet glycoprotein iv deficiency | Enrichment | CD36 | 2.66 |
| 52 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.66 |
| 53 | Leopard syndrome 2 | Enrichment | RAF1 | 2.66 |
| 54 | Trigonitis | Enrichment | RAF1 | 2.66 |
| 55 | Trilateral retinoblastoma | Enrichment | RB1 | 2.66 |
| 56 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.66 |
| 57 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.66 |
| 58 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.66 |
| 59 | Lung oat cell carcinoma | Enrichment | RB1 | 2.66 |
| 60 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 2.46 |
| 61 | Gastric cancer | Enrichment | KLF6, KRAS | 2.39 |
| 62 | Glaucoma 1, open angle, a | Enrichment | CYP1B1 | 2.35 |
| 63 | Costello syndrome | Enrichment | HRAS | 2.35 |
| 64 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.35 |
| 65 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.35 |
| 66 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.35 |
| 67 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.35 |
| 68 | Anterior segment dysgenesis 6 | Enrichment | CYP1B1 | 2.35 |
| 69 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.35 |
| 70 | Immunodeficiency 127 | Enrichment | TNF | 2.35 |
| 71 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.35 |
| 72 | Acromegaly | Enrichment | AIP | 2.35 |
| 73 | Primary congenital glaucoma | Enrichment | CYP1B1 | 2.35 |
| 74 | Familial retinoblastoma | Enrichment | RB1 | 2.35 |
| 75 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.35 |
| 76 | Null pituitary adenoma | Enrichment | AIP | 2.35 |
| 77 | Familial isolated pituitary adenoma | Enrichment | AIP | 2.35 |
| 78 | Silent pituitary adenoma | Enrichment | AIP | 2.35 |
| 79 | Wooly hair nevus | Enrichment | HRAS | 2.35 |
| 80 | Gigantism | Enrichment | AIP | 2.35 |
| 81 | Retinoblastoma | Enrichment | RB1 | 2.18 |
| 82 | Osteogenic sarcoma | Enrichment | RB1 | 2.18 |
| 83 | Psoriatic arthritis | Enrichment | TNF | 2.18 |
| 84 | Pituitary adenoma 1, multiple types | Enrichment | AIP | 2.18 |
| 85 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 2.18 |
| 86 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.18 |
| 87 | Hypotrichosis 8 | Enrichment | RB1 | 2.18 |
| 88 | Squamous cell carcinoma | Enrichment | RB1 | 2.18 |
| 89 | Migraine without aura | Enrichment | TNF | 2.18 |
| 90 | Bone osteosarcoma | Enrichment | RB1 | 2.18 |
| 91 | Growth hormone secreting pituitary adenoma | Enrichment | AIP | 2.18 |
| 92 | Spermatocytoma | Enrichment | HRAS | 2.18 |
| 93 | Aip familial isolated pituitary adenomas | Enrichment | AIP | 2.18 |
| 94 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.18 |
| 95 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.05 |
| 96 | Small cell cancer of the lung | Enrichment | RB1 | 2.05 |
| 97 | Glaucoma 3, primary infantile, b | Enrichment | CYP1B1 | 2.05 |
| 98 | Lynch syndrome 4 | Enrichment | RB1 | 2.05 |
| 99 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.05 |
| 100 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 2.05 |
| 101 | Pilocytic astrocytoma | Enrichment | KRAS | 2.05 |
| 102 | Prolactinoma | Enrichment | AIP | 2.05 |
| 103 | Blood platelet disease | Enrichment | CD36 | 2.05 |
| 104 | Epidermolytic nevus | Enrichment | HRAS | 2.05 |
| 105 | Primary hyperparathyroidism | Enrichment | CDKN1B | 2.05 |
| 106 | Juvenile glaucoma | Enrichment | CYP1B1 | 1.96 |
| 107 | Vascular dementia | Enrichment | TNF | 1.96 |
| 108 | Glaucoma, primary open angle | Enrichment | CYP1B1 | 1.88 |
| 109 | Cowden syndrome 1 | Enrichment | EGFR | 1.88 |
| 110 | Anterior segment dysgenesis 5 | Enrichment | CYP1B1 | 1.88 |
| 111 | Breast adenocarcinoma | Enrichment | KRAS | 1.88 |
| 112 | Glaucoma 3, primary congenital, a | Enrichment | CYP1B1 | 1.81 |
| 113 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.81 |
| 114 | Gallbladder cancer | Enrichment | KRAS | 1.81 |
| 115 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.81 |
| 116 | Colorectal cancer | Enrichment | NFE2L2, NRAS | 1.80 |
| 117 | Peters-plus syndrome | Enrichment | CYP1B1 | 1.66 |
| 118 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.66 |
| 119 | Asthma | Enrichment | TNF | 1.62 |
| 120 | Alzheimer's disease | Enrichment | TNF | 1.55 |
| 121 | Protein-deficiency anemia | Enrichment | NRAS | 1.55 |
| 122 | Anterior segment dysgenesis | Enrichment | CYP1B1 | 1.49 |
| 123 | Lynch syndrome | Enrichment | KRAS | 1.49 |
| 124 | Rhabdomyosarcoma | Enrichment | HRAS | 1.46 |
| 125 | Gliosarcoma | Enrichment | EGFR | 1.46 |
| 126 | Giant cell glioblastoma | Enrichment | EGFR | 1.43 |
| 127 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.29 |
| 128 | Pancreatic cancer | Enrichment | KRAS | 1.27 |
| 129 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.25 |
| 130 | Prostate cancer | Enrichment | KLF6 | 1.21 |
| 131 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.15 |
| 132 | Left ventricular noncompaction | Enrichment | RAF1 | 1.13 |
| 133 | Systemic lupus erythematosus | Enrichment | TNF | 1.08 |
| 134 | Hereditary breast carcinoma | Enrichment | KRAS | 1.03 |
| 135 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.95 |
| 136 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.94 |
| 137 | Myeloma, multiple | Enrichment | KRAS | 0.93 |
| 138 | Breast cancer | Enrichment | KRAS | 0.81 |
| 139 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.79 |
| 140 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.67 |
| 141 | Retinitis pigmentosa | Enrichment | AHR | 0.42 |