| 1 | Rasopathy | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 16.00 |
| 2 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 11.04 |
| 3 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 10.51 |
| 4 | Melanocytic nevus syndrome, congenital | Enrichment | ALK, BRAF, HRAS, NRAS, RAF1 | 10.35 |
| 5 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, KRAS, MAP2K1, NRAS | 10.16 |
| 6 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 10.13 |
| 7 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 10.13 |
| 8 | Differentiated thyroid carcinoma | Enrichment | ALK, BRAF, HRAS, KRAS, NRAS | 7.83 |
| 9 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 7.69 |
| 10 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.09 |
| 11 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 6.15 |
| 12 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS | 6.15 |
| 13 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1 | 6.15 |
| 14 | Pilomyxoid astrocytoma | Enrichment | BRAF, KRAS, RAF1 | 6.15 |
| 15 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS | 6.15 |
| 16 | Lung cancer | Enrichment | ALK, BRAF, KRAS, MET | 5.75 |
| 17 | Acute promyelocytic leukemia | Enrichment | NPM1, STAT3, STAT5B | 5.24 |
| 18 | Lung cancer susceptibility 3 | Enrichment | BRAF, KRAS, ROS1 | 5.14 |
| 19 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.12 |
| 20 | Hyperbilirubinemia, rotor type | Enrichment | SLCO1B1, SLCO1B3 | 4.64 |
| 21 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.64 |
| 22 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.34 |
| 23 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 4.34 |
| 24 | Hemimegalencephaly | Enrichment | AKT3, MTOR | 4.12 |
| 25 | Colorectal cancer | Enrichment | AKT1, BRAF, MET, NRAS | 4.01 |
| 26 | Breast adenocarcinoma | Enrichment | AKT1, KRAS | 3.94 |
| 27 | Lung squamous cell carcinoma | Enrichment | ALK, KRAS | 3.94 |
| 28 | Vitamin d-dependent rickets, type 3 | Enrichment | CYP3A4 | 3.83 |
| 29 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 3.80 |
| 30 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.80 |
| 31 | Renal cell carcinoma, papillary, 1 | Enrichment | MET, MTOR | 3.80 |
| 32 | Gallbladder cancer | Enrichment | BRAF, KRAS | 3.80 |
| 33 | Ovarian cancer | Enrichment | AKT1, ALK, KRAS, MET | 3.75 |
| 34 | Leukemia, acute myeloid | Enrichment | KRAS, NPM1, NRAS | 3.73 |
| 35 | Osteofibrous dysplasia | Enrichment | MET | 3.66 |
| 36 | Deafness, autosomal recessive 97 | Enrichment | MET | 3.66 |
| 37 | Autism 9 | Enrichment | MET | 3.66 |
| 38 | Arthrogryposis, distal, type 11 | Enrichment | MET | 3.66 |
| 39 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 3.57 |
| 40 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 3.47 |
| 41 | Childhood hepatocellular carcinoma | Enrichment | MET | 3.35 |
| 42 | Papillary renal cell carcinoma | Enrichment | MET | 3.35 |
| 43 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 3.30 |
| 44 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS | 3.30 |
| 45 | Renal cell carcinoma | Enrichment | MET | 3.18 |
| 46 | Renal cell carcinoma, nonpapillary | Enrichment | MET, MTOR | 3.11 |
| 47 | Rhabdomyosarcoma | Enrichment | ALK, HRAS | 3.05 |
| 48 | Dandy-walker syndrome | Enrichment | BRAF, PDGFRB | 2.99 |
| 49 | Breast cancer | Enrichment | AKT1, JUN, KRAS | 2.92 |
| 50 | Arteriovenous malformations of the brain | Enrichment | BRAF, KRAS | 2.90 |
| 51 | Diffuse large b-cell lymphoma | Enrichment | BRAF, STAT3 | 2.90 |
| 52 | Arthrogryposis, distal, type 1a | Enrichment | MET | 2.75 |
| 53 | Proteus syndrome | Enrichment | AKT1 | 2.55 |
| 54 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.55 |
| 55 | Oculoectodermal syndrome | Enrichment | KRAS | 2.55 |
| 56 | Pallister-killian syndrome | Enrichment | ARAF | 2.55 |
| 57 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.55 |
| 58 | Noonan syndrome 5 | Enrichment | RAF1 | 2.55 |
| 59 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.55 |
| 60 | Noonan syndrome 7 | Enrichment | BRAF | 2.55 |
| 61 | Leopard syndrome 3 | Enrichment | BRAF | 2.55 |
| 62 | Neuroblastoma 3 | Enrichment | ALK | 2.55 |
| 63 | Colchicine resistance | Enrichment | ABCB1 | 2.55 |
| 64 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.55 |
| 65 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.55 |
| 66 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.55 |
| 67 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.55 |
| 68 | Noonan syndrome 6 | Enrichment | NRAS | 2.55 |
| 69 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.55 |
| 70 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.55 |
| 71 | Encephalopathy, acute transient | Enrichment | ABCB1 | 2.55 |
| 72 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.55 |
| 73 | Oculoskeletodental syndrome | Enrichment | PIK3C2A | 2.55 |
| 74 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.55 |
| 75 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.55 |
| 76 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.55 |
| 77 | Lymphangioma | Enrichment | BRAF | 2.55 |
| 78 | Inflammatory bowel disease 13 | Enrichment | ABCB1 | 2.55 |
| 79 | Phace association | Enrichment | BRAF | 2.55 |
| 80 | Melorheostosis | Enrichment | MAP2K1 | 2.55 |
| 81 | Leopard syndrome 2 | Enrichment | RAF1 | 2.55 |
| 82 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.55 |
| 83 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.55 |
| 84 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.55 |
| 85 | Cowden syndrome 6 | Enrichment | AKT1 | 2.55 |
| 86 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.55 |
| 87 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.55 |
| 88 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.55 |
| 89 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.55 |
| 90 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.55 |
| 91 | Trigonitis | Enrichment | RAF1 | 2.55 |
| 92 | T-b+ severe combined immunodeficiency due to jak3 deficiency | Enrichment | JAK3 | 2.55 |
| 93 | Capillary hemangioma | Enrichment | AKT3 | 2.55 |
| 94 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.55 |
| 95 | Acute myeloid leukemia with multilineage dysplasia | Enrichment | NPM1 | 2.55 |
| 96 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.55 |
| 97 | Acute myeloid leukemia with npm1 somatic mutations | Enrichment | NPM1 | 2.55 |
| 98 | Alk-positive anaplastic large cell lymphoma | Enrichment | ALK | 2.55 |
| 99 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.55 |
| 100 | Ganglioglioma | Enrichment | BRAF | 2.55 |
| 101 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.55 |
| 102 | Phace syndrome | Enrichment | BRAF | 2.55 |
| 103 | Oculocerebrodental syndrome | Enrichment | PIK3C2A | 2.55 |
| 104 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.55 |
| 105 | Classic hairy cell leukemia | Enrichment | BRAF | 2.55 |
| 106 | Alk-positive large b-cell lymphoma | Enrichment | ALK | 2.55 |
| 107 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.55 |
| 108 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.55 |
| 109 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.55 |
| 110 | Bladder cancer | Enrichment | HRAS, KRAS | 2.53 |
| 111 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.47 |
| 112 | Hepatocellular carcinoma | Enrichment | MET | 2.31 |
| 113 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.25 |
| 114 | Costello syndrome | Enrichment | HRAS | 2.25 |
| 115 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.25 |
| 116 | Pulmonic stenosis | Enrichment | BRAF | 2.25 |
| 117 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.25 |
| 118 | Cebalid syndrome | Enrichment | MTOR | 2.25 |
| 119 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.25 |
| 120 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.25 |
| 121 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.25 |
| 122 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.25 |
| 123 | Acute myeloid leukemia without maturation | Enrichment | NPM1 | 2.25 |
| 124 | Lymphomatoid papulosis | Enrichment | NPM1 | 2.25 |
| 125 | Tafro syndrome | Enrichment | MAP2K2 | 2.25 |
| 126 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.25 |
| 127 | Primary cutaneous anaplastic large cell lymphoma | Enrichment | NPM1 | 2.25 |
| 128 | Wooly hair nevus | Enrichment | HRAS | 2.25 |
| 129 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS | 2.17 |
| 130 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | JAK3 | 2.08 |
| 131 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.08 |
| 132 | Ataxia-telangiectasia | Enrichment | BRAF | 2.08 |
| 133 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.08 |
| 134 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 2.08 |
| 135 | Hyper ige syndrome | Enrichment | STAT3 | 2.08 |
| 136 | Spermatocytoma | Enrichment | HRAS | 2.08 |
| 137 | Myeloma, multiple | Enrichment | BRAF, KRAS | 1.97 |
| 138 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.95 |
| 139 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.95 |
| 140 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.95 |
| 141 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3 | 1.95 |
| 142 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.95 |
| 143 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 1.95 |
| 144 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.95 |
| 145 | Cholangiocarcinoma | Enrichment | ROS1 | 1.95 |
| 146 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.95 |
| 147 | Craniopharyngioma | Enrichment | BRAF | 1.95 |
| 148 | Pilocytic astrocytoma | Enrichment | KRAS | 1.95 |
| 149 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.95 |
| 150 | Epidermolytic nevus | Enrichment | HRAS | 1.95 |
| 151 | Adenosine deaminase deficiency | Enrichment | JAK3 | 1.95 |
| 152 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.95 |
| 153 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | JAK3 | 1.86 |
| 154 | Acute myeloid leukemia with maturation | Enrichment | NPM1 | 1.86 |
| 155 | Primary hypereosinophilic syndrome | Enrichment | PDGFRB | 1.86 |
| 156 | Wilms tumor 5 | Enrichment | BRAF | 1.78 |
| 157 | Inflammatory myofibroblastic tumor | Enrichment | ALK | 1.78 |
| 158 | Megacolon | Enrichment | AKT3 | 1.71 |
| 159 | Overgrowth syndrome | Enrichment | MTOR | 1.71 |
| 160 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MET | 1.71 |
| 161 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 1.68 |
| 162 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFRB | 1.65 |
| 163 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.65 |
| 164 | Neuroblastoma | Enrichment | ALK | 1.65 |
| 165 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.65 |
| 166 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.60 |
| 167 | Primary hyperaldosteronism | Enrichment | BRAF | 1.60 |
| 168 | Ventricular septal defect | Enrichment | BRAF | 1.60 |
| 169 | Cowden syndrome | Enrichment | AKT1 | 1.60 |
| 170 | Polymicrogyria | Enrichment | AKT3 | 1.56 |
| 171 | Melanoma | Enrichment | BRAF | 1.56 |
| 172 | Inherited cancer-predisposing syndrome | Enrichment | MET | 1.54 |
| 173 | Gilbert syndrome | Enrichment | SLCO1B1 | 1.52 |
| 174 | Epilepsy, idiopathic generalized | Enrichment | ABCB1 | 1.52 |
| 175 | Specific learning disability | Enrichment | MAPK1 | 1.52 |
| 176 | Meningioma | Enrichment | AKT1 | 1.48 |
| 177 | Protein-deficiency anemia | Enrichment | NRAS | 1.45 |
| 178 | Nk-cell enteropathy | Enrichment | JAK3 | 1.45 |
| 179 | Wilms tumor 1 | Enrichment | BRAF | 1.38 |
| 180 | Hydrocephalus | Enrichment | PDGFRB | 1.38 |
| 181 | Lynch syndrome | Enrichment | KRAS | 1.38 |
| 182 | Rare genetic intellectual disability | Enrichment | MTOR | 1.38 |
| 183 | Hypertension, essential | Enrichment | CYP3A5 | 1.33 |
| 184 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.33 |
| 185 | Giant cell glioblastoma | Enrichment | ROS1 | 1.33 |
| 186 | Heart, malformation of | Enrichment | MAPK1 | 1.31 |
| 187 | Dyskeratosis congenita | Enrichment | NPM1 | 1.28 |
| 188 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.19 |
| 189 | Pancreatic cancer | Enrichment | KRAS | 1.17 |
| 190 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.15 |
| 191 | Severe covid-19 | Enrichment | JAK3 | 1.11 |
| 192 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.05 |
| 193 | Severe combined immunodeficiency | Enrichment | JAK3 | 1.05 |
| 194 | Left ventricular noncompaction | Enrichment | RAF1 | 1.03 |
| 195 | Cerebral palsy | Enrichment | PDGFRB | 0.98 |
| 196 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.95 |
| 197 | Gastric cancer | Enrichment | KRAS | 0.94 |
| 198 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.86 |
| 199 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.84 |
| 200 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.58 |
| 201 | Microcephaly | Enrichment | MAPK1 | 0.53 |