| 1 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2, HRAS, KRAS, NRAS | 9.43 |
| 2 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 8.45 |
| 3 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 7.51 |
| 4 | Bladder cancer | Enrichment | EGFR, ERBB2, ERBB3, HRAS, KRAS | 7.04 |
| 5 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, HRAS, KRAS, NRAS | 6.53 |
| 6 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 6.00 |
| 7 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS | 5.81 |
| 8 | Rasopathy | Enrichment | HRAS, KRAS, NRAS | 5.65 |
| 9 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 5.53 |
| 10 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 5.50 |
| 11 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 5.23 |
| 12 | Juvenile myelomonocytic leukemia | Enrichment | CBL, KRAS, NRAS | 4.89 |
| 13 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 4.68 |
| 14 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, RASA1 | 4.68 |
| 15 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.68 |
| 16 | Noonan syndrome 3 | Enrichment | HRAS, KRAS | 4.68 |
| 17 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 4.68 |
| 18 | Lung cancer susceptibility 3 | Enrichment | EGFR, ERBB2, KRAS | 4.68 |
| 19 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 4.56 |
| 20 | Arteriovenous malformation | Enrichment | HRAS, RASA1 | 4.45 |
| 21 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, RASA1 | 4.35 |
| 22 | Ovarian cancer | Enrichment | AKT1, CDKN1B, EGFR, ERBB2, KRAS | 4.31 |
| 23 | Hirschsprung disease 1 | Enrichment | ERBB2, ERBB3, NRG3 | 3.69 |
| 24 | Breast adenocarcinoma | Enrichment | AKT1, KRAS | 3.64 |
| 25 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS | 3.64 |
| 26 | Lung cancer | Enrichment | EGFR, ERBB2, KRAS | 3.56 |
| 27 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 3.53 |
| 28 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 3.53 |
| 29 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 3.53 |
| 30 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 3.53 |
| 31 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 3.53 |
| 32 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 3.43 |
| 33 | Erythrocytosis, familial, 4 | Enrichment | EPAS1 | 3.43 |
| 34 | Multiple paragangliomas associated with polycythemia | Enrichment | EPAS1 | 3.43 |
| 35 | Colorectal cancer | Enrichment | AKT1, CCND1, ERBB2, NRAS | 3.41 |
| 36 | Amyloidosis, primary localized cutaneous, 3 | Enrichment | GPNMB | 3.35 |
| 37 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 3.34 |
| 38 | Gastric cancer | Enrichment | CDK4, ERBB2, KRAS | 3.18 |
| 39 | Proteus syndrome | Enrichment | AKT1 | 3.18 |
| 40 | Cowden syndrome 6 | Enrichment | AKT1 | 3.18 |
| 41 | Galactosemia ii | Enrichment | NR3C1 | 3.13 |
| 42 | Erythrocytosis, familial, 3 | Enrichment | EPAS1 | 3.13 |
| 43 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 3.12 |
| 44 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 3.05 |
| 45 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 3.05 |
| 46 | Hyper ige syndrome | Enrichment | STAT3 | 3.05 |
| 47 | Parkinson disease 8, autosomal dominant | Enrichment | LRRK2 | 3.05 |
| 48 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS | 3.00 |
| 49 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.99 |
| 50 | Ramon syndrome | Enrichment | ELMO2 | 2.99 |
| 51 | Oculoectodermal syndrome | Enrichment | KRAS | 2.99 |
| 52 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.99 |
| 53 | Noonan syndrome 6 | Enrichment | NRAS | 2.99 |
| 54 | Vascular malformation, primary intraosseous | Enrichment | ELMO2 | 2.99 |
| 55 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.99 |
| 56 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.99 |
| 57 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.99 |
| 58 | Primary intraosseous venous malformation | Enrichment | ELMO2 | 2.99 |
| 59 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.99 |
| 60 | Gorham's disease | Enrichment | RASA1 | 2.99 |
| 61 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.99 |
| 62 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.99 |
| 63 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.99 |
| 64 | Temporomandibular joint anomaly | Enrichment | DOCK1 | 2.99 |
| 65 | Enchondromatosis | Enrichment | HIF1A | 2.96 |
| 66 | Klippel-feil syndrome 1, autosomal dominant | Enrichment | LRRK2 | 2.88 |
| 67 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.88 |
| 68 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.88 |
| 69 | Ovarian germ cell cancer | Enrichment | CBL | 2.88 |
| 70 | Myopia 28, autosomal recessive | Enrichment | DOK1 | 2.88 |
| 71 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.88 |
| 72 | Submucosal cleft palate | Enrichment | UBB | 2.88 |
| 73 | Cleft hard palate | Enrichment | UBB | 2.88 |
| 74 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1, KRAS | 2.85 |
| 75 | Rhabdomyosarcoma | Enrichment | CBL, HRAS | 2.74 |
| 76 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 2.73 |
| 77 | Uvula, bifid | Enrichment | UBB | 2.70 |
| 78 | Cleft soft palate | Enrichment | UBB | 2.70 |
| 79 | Costello syndrome | Enrichment | HRAS | 2.69 |
| 80 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.69 |
| 81 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.69 |
| 82 | Wooly hair nevus | Enrichment | HRAS | 2.69 |
| 83 | Autosomal dominant secondary polycythemia | Enrichment | EPAS1 | 2.66 |
| 84 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | EPAS1 | 2.66 |
| 85 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 2.63 |
| 86 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 2.59 |
| 87 | Renal cell carcinoma with mit translocations | Enrichment | SFPQ | 2.59 |
| 88 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 2.59 |
| 89 | Machado-joseph disease | Enrichment | LRRK2 | 2.58 |
| 90 | Cowden syndrome 1 | Enrichment | EGFR | 2.58 |
| 91 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL | 2.58 |
| 92 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 2.51 |
| 93 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.51 |
| 94 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.51 |
| 95 | Spermatocytoma | Enrichment | HRAS | 2.51 |
| 96 | Myeloproliferative neoplasm | Enrichment | CBL | 2.48 |
| 97 | Aggressive systemic mastocytosis | Enrichment | CBL | 2.48 |
| 98 | Primary hyperaldosteronism | Enrichment | NR3C1 | 2.48 |
| 99 | Acute promyelocytic leukemia | Enrichment | STAT3 | 2.42 |
| 100 | Autosomal dominant cerebellar ataxia | Enrichment | LRRK2 | 2.40 |
| 101 | Erythroleukemia, familial | Enrichment | ERBB3 | 2.40 |
| 102 | Paget disease, extramammary | Enrichment | ERBB2 | 2.40 |
| 103 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.40 |
| 104 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.40 |
| 105 | Lethal congenital contracture syndrome 2 | Enrichment | ERBB3 | 2.40 |
| 106 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.40 |
| 107 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.40 |
| 108 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 2.40 |
| 109 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.40 |
| 110 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.40 |
| 111 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.38 |
| 112 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.38 |
| 113 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.38 |
| 114 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.38 |
| 115 | Pilocytic astrocytoma | Enrichment | KRAS | 2.38 |
| 116 | Epidermolytic nevus | Enrichment | HRAS | 2.38 |
| 117 | Capillary malformations, congenital | Enrichment | RASA1 | 2.29 |
| 118 | Martsolf syndrome 1 | Enrichment | ARHGAP35 | 2.29 |
| 119 | Early-onset parkinson's disease | Enrichment | LRRK2 | 2.28 |
| 120 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 2.25 |
| 121 | Cowden syndrome | Enrichment | AKT1 | 2.22 |
| 122 | Klippel-trenaunay-weber syndrome | Enrichment | RASA1 | 2.21 |
| 123 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 2.21 |
| 124 | Hemihyperplasia, isolated | Enrichment | RHOA | 2.21 |
| 125 | Hemangioma, capillary infantile | Enrichment | RASA1 | 2.21 |
| 126 | Anterior segment dysgenesis 5 | Enrichment | ARHGAP35 | 2.21 |
| 127 | Basal cell carcinoma 1 | Enrichment | RASA1 | 2.21 |
| 128 | Gliosarcoma | Enrichment | EGFR | 2.15 |
| 129 | Gallbladder cancer | Enrichment | KRAS | 2.14 |
| 130 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 2.14 |
| 131 | Pilomyxoid astrocytoma | Enrichment | KRAS | 2.14 |
| 132 | Giant cell glioblastoma | Enrichment | EGFR | 2.13 |
| 133 | Meningioma | Enrichment | AKT1 | 2.10 |
| 134 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | ERBB3 | 2.10 |
| 135 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.10 |
| 136 | Parkinson's disease | Enrichment | LRRK2 | 2.08 |
| 137 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 2.03 |
| 138 | Type 2 diabetes mellitus | Enrichment | PTPN1 | 2.03 |
| 139 | Peters-plus syndrome | Enrichment | ARHGAP35 | 1.99 |
| 140 | Parkinson disease, late-onset | Enrichment | LRRK2 | 1.98 |
| 141 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 1.92 |
| 142 | Well-differentiated liposarcoma | Enrichment | CDK4 | 1.92 |
| 143 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS | 1.88 |
| 144 | Protein-deficiency anemia | Enrichment | NRAS | 1.87 |
| 145 | Lynch syndrome | Enrichment | KRAS | 1.81 |
| 146 | Inherited cancer-predisposing syndrome | Enrichment | CDK4, CDKN1B, EGFR | 1.81 |
| 147 | Barrett esophagus | Enrichment | ERBB2 | 1.80 |
| 148 | Mantle cell lymphoma | Enrichment | CCND1 | 1.80 |
| 149 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.80 |
| 150 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.70 |
| 151 | Myeloma, multiple | Enrichment | CCND1, KRAS | 1.68 |
| 152 | Primary ovarian insufficiency | Enrichment | KHDRBS1 | 1.67 |
| 153 | Pancreatic cancer | Enrichment | KRAS | 1.59 |
| 154 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.58 |
| 155 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.56 |
| 156 | Glioma susceptibility 1 | Enrichment | ERBB2 | 1.50 |
| 157 | Adult hepatocellular carcinoma | Enrichment | EGF | 1.45 |
| 158 | Breast cancer | Enrichment | AKT1, KRAS | 1.45 |
| 159 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.41 |
| 160 | Nk-cell enteropathy | Enrichment | ERBB4 | 1.30 |
| 161 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4 | 1.18 |
| 162 | Autosomal dominant non-syndromic intellectual disability | Enrichment | ERBB4 | 0.74 |
| 163 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4 | 0.68 |