| 1 | Tetralogy of fallot | Enrichment | FLT4, KDR, RET | 6.46 |
| 2 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 5.74 |
| 3 | Hemangioma, capillary infantile | Enrichment | FLT4, KDR | 5.34 |
| 4 | Pilomyxoid astrocytoma | Enrichment | BRAF, RAF1 | 5.20 |
| 5 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, RAF1 | 5.07 |
| 6 | Ventricular septal defect | Enrichment | BRAF, TEK | 4.96 |
| 7 | Lip and oral cavity carcinoma | Enrichment | BRAF, KIT | 4.70 |
| 8 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, RAF1 | 4.50 |
| 9 | Noonan syndrome 1 | Enrichment | BRAF, RAF1 | 4.12 |
| 10 | Rasopathy | Enrichment | BRAF, RAF1 | 4.01 |
| 11 | Differentiated thyroid carcinoma | Enrichment | BRAF, RET | 3.91 |
| 12 | Multiple endocrine neoplasia, type iib | Enrichment | RET | 3.23 |
| 13 | Noonan syndrome 5 | Enrichment | RAF1 | 3.23 |
| 14 | Mastocytosis, cutaneous | Enrichment | KIT | 3.23 |
| 15 | Noonan syndrome 7 | Enrichment | BRAF | 3.23 |
| 16 | Leopard syndrome 3 | Enrichment | BRAF | 3.23 |
| 17 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 3.23 |
| 18 | Venous malformations, multiple cutaneous and mucosal | Enrichment | TEK | 3.23 |
| 19 | Lymphangioma | Enrichment | BRAF | 3.23 |
| 20 | Phace association | Enrichment | BRAF | 3.23 |
| 21 | Leopard syndrome 2 | Enrichment | RAF1 | 3.23 |
| 22 | Congenital heart defects, multiple types, 7 | Enrichment | FLT4 | 3.23 |
| 23 | Glaucoma 3, primary congenital, e | Enrichment | TEK | 3.23 |
| 24 | Chronic mast cell leukemia | Enrichment | KIT | 3.23 |
| 25 | Trigonitis | Enrichment | RAF1 | 3.23 |
| 26 | Tufted angioma of skin | Enrichment | KDR | 3.23 |
| 27 | Bockenheimer syndrome | Enrichment | TEK | 3.23 |
| 28 | Isolated bone marrow mastocytosis | Enrichment | KIT | 3.23 |
| 29 | Thyroid cancer | Enrichment | RET | 3.23 |
| 30 | Smoldering systemic mastocytosis | Enrichment | KIT | 3.23 |
| 31 | Mastocytosis | Enrichment | KIT | 3.23 |
| 32 | Syringocystadenoma papilliferum | Enrichment | BRAF | 3.23 |
| 33 | Ganglioglioma | Enrichment | BRAF | 3.23 |
| 34 | Cutaneous mastocytoma | Enrichment | KIT | 3.23 |
| 35 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 3.23 |
| 36 | Phace syndrome | Enrichment | BRAF | 3.23 |
| 37 | Typical urticaria pigmentosa | Enrichment | KIT | 3.23 |
| 38 | Classic hairy cell leukemia | Enrichment | BRAF | 3.23 |
| 39 | Nodular urticaria pigmentosa | Enrichment | KIT | 3.23 |
| 40 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 3.23 |
| 41 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 3.23 |
| 42 | Acute mast cell leukemia | Enrichment | KIT | 3.23 |
| 43 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 3.23 |
| 44 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 3.23 |
| 45 | Gastrointestinal system disease | Enrichment | RET | 3.23 |
| 46 | Multiple endocrine neoplasia | Enrichment | RET | 3.23 |
| 47 | Testis seminoma | Enrichment | KIT | 3.23 |
| 48 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 3.03 |
| 49 | Colorectal cancer | Enrichment | BRAF, RET | 2.95 |
| 50 | Lymphatic malformation 1 | Enrichment | FLT4 | 2.93 |
| 51 | Blue rubber bleb nevus | Enrichment | TEK | 2.93 |
| 52 | Intracranial hypertension, idiopathic | Enrichment | FLT4 | 2.93 |
| 53 | Pulmonic stenosis | Enrichment | BRAF | 2.93 |
| 54 | Piebald trait | Enrichment | KIT | 2.93 |
| 55 | Angioma, tufted | Enrichment | KDR | 2.93 |
| 56 | Medullary thyroid carcinoma | Enrichment | RET | 2.93 |
| 57 | Hereditary lymphedema i | Enrichment | FLT4 | 2.93 |
| 58 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 2.93 |
| 59 | Ovarian cancer | Enrichment | KIT, RET | 2.83 |
| 60 | Thyroid carcinoma, familial medullary | Enrichment | RET | 2.75 |
| 61 | Ataxia-telangiectasia | Enrichment | BRAF | 2.75 |
| 62 | Langerhans cell histiocytosis | Enrichment | BRAF | 2.75 |
| 63 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.75 |
| 64 | Testicular germ cell cancer | Enrichment | KIT | 2.75 |
| 65 | Gingival overgrowth | Enrichment | RET | 2.75 |
| 66 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF | 2.63 |
| 67 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 2.63 |
| 68 | Glaucoma 3, primary infantile, b | Enrichment | TEK | 2.63 |
| 69 | Central hypoventilation syndrome, congenital, 1 | Enrichment | RET | 2.63 |
| 70 | Cardiofaciocutaneous syndrome | Enrichment | BRAF | 2.63 |
| 71 | Craniopharyngioma | Enrichment | BRAF | 2.63 |
| 72 | Newborn respiratory distress syndrome | Enrichment | BRAF | 2.63 |
| 73 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | KIT | 2.63 |
| 74 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 2.63 |
| 75 | Haddad syndrome | Enrichment | RET | 2.63 |
| 76 | Inherited cancer-predisposing syndrome | Enrichment | KIT, RET | 2.60 |
| 77 | Multiple endocrine neoplasia, type iia | Enrichment | RET | 2.53 |
| 78 | Pre-eclampsia | Enrichment | FLT1 | 2.53 |
| 79 | Acute myeloid leukemia with maturation | Enrichment | KIT | 2.53 |
| 80 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | KIT | 2.53 |
| 81 | Testicular germ cell tumor | Enrichment | KIT | 2.45 |
| 82 | Wilms tumor 5 | Enrichment | BRAF | 2.45 |
| 83 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | RET | 2.45 |
| 84 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF | 2.38 |
| 85 | Glaucoma 3, primary congenital, a | Enrichment | TEK | 2.38 |
| 86 | Gastrointestinal stromal tumor | Enrichment | KIT | 2.38 |
| 87 | Noonan syndrome 3 | Enrichment | RAF1 | 2.38 |
| 88 | Gallbladder cancer | Enrichment | BRAF | 2.38 |
| 89 | Follicular thyroid carcinoma | Enrichment | BRAF | 2.38 |
| 90 | Renal hypodysplasia/aplasia 1 | Enrichment | RET | 2.33 |
| 91 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 2.33 |
| 92 | Hypothyroidism | Enrichment | RET | 2.33 |
| 93 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 2.28 |
| 94 | Arteriovenous malformation | Enrichment | TEK | 2.28 |
| 95 | Congenital central hypoventilation syndrome | Enrichment | RET | 2.28 |
| 96 | Primary hyperaldosteronism | Enrichment | BRAF | 2.28 |
| 97 | Renal agenesis, bilateral | Enrichment | RET | 2.28 |
| 98 | Myopathy, x-linked, with excessive autophagy | Enrichment | TEK | 2.23 |
| 99 | Melanoma | Enrichment | BRAF | 2.23 |
| 100 | Lung non-small cell carcinoma | Enrichment | BRAF | 2.19 |
| 101 | Renal hypodysplasia/aplasia 3 | Enrichment | RET | 2.15 |
| 102 | Pheochromocytoma | Enrichment | RET | 2.08 |
| 103 | Lung cancer susceptibility 3 | Enrichment | BRAF | 2.08 |
| 104 | Wilms tumor 1 | Enrichment | BRAF | 2.05 |
| 105 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 2.00 |
| 106 | Dandy-walker syndrome | Enrichment | BRAF | 2.00 |
| 107 | Arteriovenous malformations of the brain | Enrichment | BRAF | 1.95 |
| 108 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 1.95 |
| 109 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | RET | 1.91 |
| 110 | Hepatocellular carcinoma | Enrichment | RET | 1.89 |
| 111 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.85 |
| 112 | Hydrops fetalis, nonimmune | Enrichment | FLT4 | 1.82 |
| 113 | Hirschsprung disease 1 | Enrichment | RET | 1.77 |
| 114 | Non-immune hydrops fetalis | Enrichment | FLT4 | 1.74 |
| 115 | Lung cancer | Enrichment | BRAF | 1.73 |
| 116 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.71 |
| 117 | Left ventricular noncompaction | Enrichment | RAF1 | 1.69 |
| 118 | Leukemia, acute myeloid | Enrichment | KIT | 1.63 |
| 119 | Hereditary breast carcinoma | Enrichment | RET | 1.59 |
| 120 | Sensorineural hearing loss | Enrichment | RET | 1.55 |
| 121 | Hypertelorism | Enrichment | RET | 1.52 |
| 122 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 1.51 |
| 123 | Myeloma, multiple | Enrichment | BRAF | 1.49 |
| 124 | Primary ovarian insufficiency | Enrichment | KDR | 1.46 |
| 125 | Breast cancer | Enrichment | RET | 1.36 |