| 1 | Rasopathy | Enrichment | HRAS, KRAS, NF1, NRAS, SOS1, SOS2 | 16.00 |
| 2 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS, RASA2, RRAS, SOS1, SOS2 | 10.64 |
| 3 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 9.91 |
| 4 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 9.06 |
| 5 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS | 8.40 |
| 6 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NF1, NRAS, RRAS | 8.21 |
| 7 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS | 7.96 |
| 8 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 7.06 |
| 9 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 6.96 |
| 10 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 6.61 |
| 11 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 6.49 |
| 12 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 6.19 |
| 13 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 5.64 |
| 14 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 5.64 |
| 15 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 5.64 |
| 16 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 5.52 |
| 17 | Pilocytic astrocytoma | Enrichment | KRAS, NF1 | 4.64 |
| 18 | Bladder cancer | Enrichment | HRAS, KRAS, NF1 | 4.61 |
| 19 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 4.30 |
| 20 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, RASA1 | 4.10 |
| 21 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 4.07 |
| 22 | Arteriovenous malformation | Enrichment | HRAS, RASA1 | 3.87 |
| 23 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, RASA1 | 3.77 |
| 24 | Oculoectodermal syndrome | Enrichment | KRAS | 3.43 |
| 25 | Melanosis, neurocutaneous | Enrichment | NRAS | 3.43 |
| 26 | Noonan syndrome 6 | Enrichment | NRAS | 3.43 |
| 27 | Immunodeficiency 64 with lymphoproliferation | Enrichment | RASGRP1 | 3.43 |
| 28 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 3.43 |
| 29 | Congenital pulmonary airway malformation | Enrichment | KRAS | 3.43 |
| 30 | Immunodeficiency 64 | Enrichment | RASGRP1 | 3.43 |
| 31 | Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency | Enrichment | RASGRP1 | 3.43 |
| 32 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 3.43 |
| 33 | Neurocutaneous melanocytosis | Enrichment | NRAS | 3.43 |
| 34 | Rhabdomyosarcoma | Enrichment | HRAS, NF1 | 3.35 |
| 35 | Costello syndrome | Enrichment | HRAS | 3.13 |
| 36 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 3.13 |
| 37 | Wooly hair nevus | Enrichment | HRAS | 3.13 |
| 38 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.96 |
| 39 | Spermatocytoma | Enrichment | HRAS | 2.96 |
| 40 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.83 |
| 41 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.83 |
| 42 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.83 |
| 43 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.83 |
| 44 | Epidermolytic nevus | Enrichment | HRAS | 2.83 |
| 45 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.70 |
| 46 | Noonan syndrome 4 | Enrichment | SOS1 | 2.70 |
| 47 | Noonan syndrome 9 | Enrichment | SOS2 | 2.70 |
| 48 | Bleeding disorder, platelet-type, 18 | Enrichment | RASGRP2 | 2.70 |
| 49 | Intellectual developmental disorder, autosomal dominant 54 | Enrichment | CAMK2B | 2.70 |
| 50 | Plexiform neurofibroma | Enrichment | NF1 | 2.70 |
| 51 | Neurofibroma | Enrichment | NF1 | 2.70 |
| 52 | Neurofibromatosis | Enrichment | NF1 | 2.70 |
| 53 | Chromosome 17q11.2 deletion syndrome | Enrichment | NF1 | 2.70 |
| 54 | Optic nerve glioma | Enrichment | NF1 | 2.70 |
| 55 | Gorham's disease | Enrichment | RASA1 | 2.70 |
| 56 | Breast adenocarcinoma | Enrichment | KRAS | 2.66 |
| 57 | Lung squamous cell carcinoma | Enrichment | KRAS | 2.66 |
| 58 | Gallbladder cancer | Enrichment | KRAS | 2.59 |
| 59 | Pilomyxoid astrocytoma | Enrichment | KRAS | 2.59 |
| 60 | Gastric cancer | Enrichment | KRAS, NF1 | 2.48 |
| 61 | Cafe-au-lait spots, multiple | Enrichment | NF1 | 2.40 |
| 62 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.40 |
| 63 | Pulmonic stenosis | Enrichment | SOS1 | 2.40 |
| 64 | Seizures, benign familial infantile, 2 | Enrichment | PRRT2 | 2.40 |
| 65 | Intellectual developmental disorder, autosomal recessive 5 | Enrichment | SYNGAP1 | 2.40 |
| 66 | Chromosome 17q11.2 duplication syndrome, 1.4-mb | Enrichment | NF1 | 2.40 |
| 67 | Bardet-biedl syndrome 9 | Enrichment | NF1 | 2.40 |
| 68 | Prrt2-related disorder | Enrichment | PRRT2 | 2.40 |
| 69 | Pleomorphic rhabdomyosarcoma | Enrichment | NF1 | 2.40 |
| 70 | Lip and oral cavity carcinoma | Enrichment | HRAS | 2.35 |
| 71 | Protein-deficiency anemia | Enrichment | NRAS | 2.32 |
| 72 | Lung cancer susceptibility 3 | Enrichment | KRAS | 2.29 |
| 73 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, NF1 | 2.27 |
| 74 | Myeloma, multiple | Enrichment | KRAS, NF1 | 2.26 |
| 75 | Lynch syndrome | Enrichment | KRAS | 2.26 |
| 76 | Watson syndrome | Enrichment | NF1 | 2.22 |
| 77 | Nuchal bleb, familial | Enrichment | SOS1 | 2.22 |
| 78 | Glut1 deficiency syndrome 2 | Enrichment | PRRT2 | 2.22 |
| 79 | Intellectual developmental disorder, autosomal dominant 5 | Enrichment | SYNGAP1 | 2.22 |
| 80 | Nephrotic syndrome, type 3 | Enrichment | PLCE1 | 2.22 |
| 81 | Neurofibromatosis, familial spinal | Enrichment | NF1 | 2.22 |
| 82 | Chromosome 17q11.2 deletion syndrome, 1.4-mb | Enrichment | NF1 | 2.22 |
| 83 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.22 |
| 84 | Brain cancer | Enrichment | NF1 | 2.22 |
| 85 | Arteriovenous malformations of the brain | Enrichment | KRAS | 2.16 |
| 86 | Paroxysmal nonkinesigenic dyskinesia 1 | Enrichment | PRRT2 | 2.10 |
| 87 | Episodic kinesigenic dyskinesia 1 | Enrichment | PRRT2 | 2.10 |
| 88 | Neurofibromatosis-noonan syndrome | Enrichment | NF1 | 2.10 |
| 89 | Embryonal rhabdomyosarcoma | Enrichment | NF1 | 2.10 |
| 90 | Familial paroxysmal nonkinesigenic dyskinesia | Enrichment | PRRT2 | 2.10 |
| 91 | Familial or sporadic hemiplegic migraine | Enrichment | PRRT2 | 2.10 |
| 92 | Middle aortic syndrome | Enrichment | NF1 | 2.10 |
| 93 | Gingival fibromatosis | Enrichment | SOS1 | 2.10 |
| 94 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 2.10 |
| 95 | Pancreatic cancer | Enrichment | KRAS | 2.04 |
| 96 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 2.02 |
| 97 | Capillary malformations, congenital | Enrichment | RASA1 | 2.00 |
| 98 | Rhabdomyosarcoma 2 | Enrichment | NF1 | 2.00 |
| 99 | Convulsions, familial infantile, with paroxysmal choreoathetosis | Enrichment | PRRT2 | 2.00 |
| 100 | Self-limited infantile epilepsy | Enrichment | PRRT2 | 2.00 |
| 101 | Lung cancer | Enrichment | KRAS | 1.93 |
| 102 | Klippel-trenaunay-weber syndrome | Enrichment | RASA1 | 1.92 |
| 103 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.92 |
| 104 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.92 |
| 105 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.92 |
| 106 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.86 |
| 107 | Ewing sarcoma | Enrichment | NF1 | 1.80 |
| 108 | Hereditary breast carcinoma | Enrichment | KRAS | 1.79 |
| 109 | Neurofibromatosis, type i | Enrichment | NF1 | 1.75 |
| 110 | Nephrotic syndrome, type 1 | Enrichment | PLCE1 | 1.75 |
| 111 | Leukemia, acute lymphoblastic 3 | Enrichment | NF1 | 1.75 |
| 112 | Myoclonic-atonic epilepsy | Enrichment | SYNGAP1 | 1.75 |
| 113 | Microcephaly | Enrichment | CAMK2B, SYNGAP1 | 1.61 |
| 114 | Aortic valve disease 1 | Enrichment | SOS1 | 1.59 |
| 115 | Stereotypic movement disorder | Enrichment | SYNGAP1 | 1.59 |
| 116 | Breast cancer | Enrichment | KRAS | 1.56 |
| 117 | Pheochromocytoma | Enrichment | NF1 | 1.56 |
| 118 | Generalized epilepsy with febrile seizures plus | Enrichment | PRRT2 | 1.56 |
| 119 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.56 |
| 120 | Colorectal cancer | Enrichment | NRAS | 1.50 |
| 121 | Ovarian cancer | Enrichment | KRAS | 1.44 |
| 122 | Focal segmental glomerulosclerosis | Enrichment | PLCE1 | 1.41 |
| 123 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | NF1 | 1.39 |
| 124 | Skin disease | Enrichment | NF1 | 1.37 |
| 125 | Genetic steroid-resistant nephrotic syndrome | Enrichment | PLCE1 | 1.18 |
| 126 | Dystonia | Enrichment | CAMK2B | 1.17 |
| 127 | Nephrotic syndrome | Enrichment | PLCE1 | 1.08 |
| 128 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2B | 1.02 |
| 129 | Congenital nervous system abnormality | Enrichment | CAMK2B | 0.72 |
| 130 | Nervous system disease | Enrichment | CAMK2B | 0.72 |
| 131 | Autism spectrum disorder | Enrichment | NF1 | 0.71 |
| 132 | Complex neurodevelopmental disorder | Enrichment | SYNGAP1 | 0.66 |
| 133 | Inherited cancer-predisposing syndrome | Enrichment | NF1 | 0.63 |