| 1 | Rasopathy | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 11.19 |
| 2 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 10.60 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 10.56 |
| 4 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, MAP2K1, NRAS | 9.04 |
| 5 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, MAP2K1, MAP2K2 | 8.11 |
| 6 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, MAP2K1, MAP2K2 | 8.11 |
| 7 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 8.03 |
| 8 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 7.09 |
| 9 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1 | 7.09 |
| 10 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS, RAF1 | 6.89 |
| 11 | Primary hyperaldosteronism | Enrichment | BRAF, GNAS, NR3C1 | 6.79 |
| 12 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2, STAT3 | 6.71 |
| 13 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.73 |
| 14 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 5.30 |
| 15 | Melanoma of soft tissue | Enrichment | ATF1, CREB1 | 5.30 |
| 16 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 5.25 |
| 17 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 5.08 |
| 18 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.95 |
| 19 | Capillary malformations, congenital | Enrichment | GNAQ, PIK3CA | 4.42 |
| 20 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 4.41 |
| 21 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 4.41 |
| 22 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.41 |
| 23 | Pilomyxoid astrocytoma | Enrichment | KRAS, RAF1 | 4.41 |
| 24 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 4.41 |
| 25 | Klippel-trenaunay-weber syndrome | Enrichment | GNAQ, PIK3CA | 4.24 |
| 26 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 4.24 |
| 27 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 4.18 |
| 28 | Gallbladder cancer | Enrichment | BRAF, PIK3CA | 4.10 |
| 29 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 4.08 |
| 30 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 3.91 |
| 31 | Thrombocythemia 3 | Enrichment | JAK2 | 3.83 |
| 32 | Polycythemia | Enrichment | JAK2 | 3.83 |
| 33 | Hypereosinophilic syndrome | Enrichment | JAK2 | 3.83 |
| 34 | Polycythemia vera | Enrichment | JAK2 | 3.66 |
| 35 | Lip and oral cavity carcinoma | Enrichment | BRAF, PIK3CA | 3.60 |
| 36 | Sturge-weber syndrome | Enrichment | GNAQ | 3.53 |
| 37 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 3.53 |
| 38 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 3.53 |
| 39 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 3.53 |
| 40 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 3.53 |
| 41 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 3.53 |
| 42 | Budd-chiari syndrome | Enrichment | JAK2 | 3.53 |
| 43 | Myeloproliferative neoplasm | Enrichment | JAK2 | 3.43 |
| 44 | Myelofibrosis | Enrichment | JAK2 | 3.29 |
| 45 | Essential thrombocythemia | Enrichment | JAK2 | 3.29 |
| 46 | Obsessive-compulsive disorder | Enrichment | HTR2A | 3.23 |
| 47 | Phakomatosis cesioflammea | Enrichment | GNAQ | 3.23 |
| 48 | Diffuse large b-cell lymphoma | Enrichment | BRAF, STAT3 | 3.19 |
| 49 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 3.18 |
| 50 | Bladder cancer | Enrichment | HRAS, KRAS | 3.13 |
| 51 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 3.07 |
| 52 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 3.05 |
| 53 | Hyper ige syndrome | Enrichment | STAT3 | 3.05 |
| 54 | Anastomosing haemangioma | Enrichment | GNAQ | 3.05 |
| 55 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.88 |
| 56 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.88 |
| 57 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.88 |
| 58 | Noonan syndrome 7 | Enrichment | BRAF | 2.88 |
| 59 | Leopard syndrome 3 | Enrichment | BRAF | 2.88 |
| 60 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.88 |
| 61 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.88 |
| 62 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.88 |
| 63 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.88 |
| 64 | Lymphangioma | Enrichment | BRAF | 2.88 |
| 65 | Phace association | Enrichment | BRAF | 2.88 |
| 66 | Melorheostosis | Enrichment | MAP2K1 | 2.88 |
| 67 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.88 |
| 68 | Disorders of gnas inactivation | Enrichment | GNAS | 2.88 |
| 69 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.88 |
| 70 | Ganglioglioma | Enrichment | BRAF | 2.88 |
| 71 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.88 |
| 72 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.88 |
| 73 | Phace syndrome | Enrichment | BRAF | 2.88 |
| 74 | Classic hairy cell leukemia | Enrichment | BRAF | 2.88 |
| 75 | Mazabraud syndrome | Enrichment | GNAS | 2.88 |
| 76 | Oculoectodermal syndrome | Enrichment | KRAS | 2.85 |
| 77 | Noonan syndrome 5 | Enrichment | RAF1 | 2.85 |
| 78 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.85 |
| 79 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.85 |
| 80 | Noonan syndrome 6 | Enrichment | NRAS | 2.85 |
| 81 | Atrioventricular septal defect 4 | Enrichment | GATA4 | 2.85 |
| 82 | Immunodeficiency 64 with lymphoproliferation | Enrichment | RASGRP1 | 2.85 |
| 83 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.85 |
| 84 | Atrial septal defect 2 | Enrichment | GATA4 | 2.85 |
| 85 | Leopard syndrome 2 | Enrichment | RAF1 | 2.85 |
| 86 | Testicular anomalies with or without congenital heart disease | Enrichment | GATA4 | 2.85 |
| 87 | 8p23.1 microdeletion syndrome | Enrichment | GATA4 | 2.85 |
| 88 | Trigonitis | Enrichment | RAF1 | 2.85 |
| 89 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.85 |
| 90 | Immunodeficiency 64 | Enrichment | RASGRP1 | 2.85 |
| 91 | Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency | Enrichment | RASGRP1 | 2.85 |
| 92 | Partial atrioventricular septal defect with ventricular hypoplasia | Enrichment | GATA4 | 2.85 |
| 93 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.85 |
| 94 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.85 |
| 95 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 2.85 |
| 96 | Major depressive disorder | Enrichment | HTR2A | 2.83 |
| 97 | Melanoma, uveal | Enrichment | GNAQ | 2.75 |
| 98 | Lung cancer | Enrichment | BRAF, PIK3CA | 2.74 |
| 99 | Macrodactyly | Enrichment | PIK3CA | 2.70 |
| 100 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.70 |
| 101 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.70 |
| 102 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.70 |
| 103 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.70 |
| 104 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.70 |
| 105 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.70 |
| 106 | Macular dystrophy, patterned, 3 | Enrichment | MAPKAPK3 | 2.70 |
| 107 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.70 |
| 108 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.70 |
| 109 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.70 |
| 110 | Hypospadias | Enrichment | PIK3CA | 2.70 |
| 111 | Rare venous malformation | Enrichment | PIK3CA | 2.70 |
| 112 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.70 |
| 113 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.70 |
| 114 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.70 |
| 115 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.70 |
| 116 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.70 |
| 117 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.70 |
| 118 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.70 |
| 119 | Macrodactyly of toe | Enrichment | PIK3CA | 2.70 |
| 120 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 2.63 |
| 121 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 2.58 |
| 122 | Galactosemia ii | Enrichment | NR3C1 | 2.58 |
| 123 | Pulmonic stenosis | Enrichment | BRAF | 2.58 |
| 124 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.58 |
| 125 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS | 2.58 |
| 126 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 2.58 |
| 127 | Pseudohypoparathyroidism | Enrichment | GNAS | 2.58 |
| 128 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 2.58 |
| 129 | Tafro syndrome | Enrichment | MAP2K2 | 2.58 |
| 130 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 2.55 |
| 131 | Costello syndrome | Enrichment | HRAS | 2.55 |
| 132 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.55 |
| 133 | 46,xy sex reversal 3 | Enrichment | GATA4 | 2.55 |
| 134 | Wooly hair nevus | Enrichment | HRAS | 2.55 |
| 135 | Acute promyelocytic leukemia | Enrichment | STAT3 | 2.42 |
| 136 | Mccune-albright syndrome | Enrichment | GNAS | 2.40 |
| 137 | Ataxia-telangiectasia | Enrichment | BRAF | 2.40 |
| 138 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.40 |
| 139 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 2.40 |
| 140 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.40 |
| 141 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.40 |
| 142 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.40 |
| 143 | Gillespie syndrome | Enrichment | ITPR1 | 2.38 |
| 144 | Spermatocytoma | Enrichment | HRAS | 2.38 |
| 145 | Primary ovarian insufficiency | Enrichment | JAK2 | 2.36 |
| 146 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 2.28 |
| 147 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 2.28 |
| 148 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 2.28 |
| 149 | Craniopharyngioma | Enrichment | BRAF | 2.28 |
| 150 | Noonan syndrome with multiple lentigines | Enrichment | BRAF | 2.28 |
| 151 | Newborn respiratory distress syndrome | Enrichment | BRAF | 2.28 |
| 152 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.25 |
| 153 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 2.25 |
| 154 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.25 |
| 155 | Pilocytic astrocytoma | Enrichment | KRAS | 2.25 |
| 156 | Epidermolytic nevus | Enrichment | HRAS | 2.25 |
| 157 | Transposition of the great arteries | Enrichment | GATA4 | 2.25 |
| 158 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.22 |
| 159 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 2.22 |
| 160 | Bacteremia 2 | Enrichment | MAPKAPK3 | 2.22 |
| 161 | Keratoacanthoma | Enrichment | PIK3CA | 2.22 |
| 162 | Ventricular septal defect 1 | Enrichment | GATA4 | 2.16 |
| 163 | Congenital heart defects, multiple types, 4 | Enrichment | GATA4 | 2.16 |
| 164 | Wilms tumor 5 | Enrichment | BRAF | 2.10 |
| 165 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.10 |
| 166 | Congenital generalized lipodystrophy | Enrichment | FOS | 2.10 |
| 167 | Cerebrovascular disease | Enrichment | PIK3CA | 2.10 |
| 168 | Tuberculosis | Enrichment | MAPKAPK3 | 2.10 |
| 169 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.10 |
| 170 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 2.08 |
| 171 | Breast adenocarcinoma | Enrichment | KRAS | 2.08 |
| 172 | Lung squamous cell carcinoma | Enrichment | KRAS | 2.08 |
| 173 | Brachydactyly | Enrichment | GNAS | 2.03 |
| 174 | Histiocytoid hemangioma | Enrichment | FOS | 2.00 |
| 175 | Hemimegalencephaly | Enrichment | PIK3CA | 2.00 |
| 176 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.98 |
| 177 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.98 |
| 178 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.93 |
| 179 | Ventricular septal defect | Enrichment | BRAF | 1.93 |
| 180 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.92 |
| 181 | Colorectal cancer | Enrichment | BRAF, PIK3CA | 1.89 |
| 182 | Melanoma | Enrichment | BRAF | 1.88 |
| 183 | Ovarian cancer | Enrichment | MAP3K1, PIK3CA | 1.77 |
| 184 | Schizophrenia | Enrichment | HTR2A | 1.76 |
| 185 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.75 |
| 186 | Cowden syndrome | Enrichment | PIK3CA | 1.75 |
| 187 | Protein-deficiency anemia | Enrichment | NRAS | 1.74 |
| 188 | Lung cancer susceptibility 3 | Enrichment | BRAF | 1.73 |
| 189 | Multiple sclerosis | Enrichment | ITPR1 | 1.71 |
| 190 | Aortic aneurysm, familial thoracic 1 | Enrichment | GATA4 | 1.71 |
| 191 | Heart disease | Enrichment | GATA4 | 1.71 |
| 192 | 46,xy partial gonadal dysgenesis | Enrichment | GATA4 | 1.71 |
| 193 | Wilms tumor 1 | Enrichment | BRAF | 1.70 |
| 194 | Anterior segment dysgenesis | Enrichment | ITPR1 | 1.68 |
| 195 | Lynch syndrome | Enrichment | KRAS | 1.68 |
| 196 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.66 |
| 197 | Rhabdomyosarcoma | Enrichment | HRAS | 1.65 |
| 198 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.65 |
| 199 | Dandy-walker syndrome | Enrichment | BRAF | 1.65 |
| 200 | Meningioma | Enrichment | PIK3CA | 1.63 |
| 201 | Heart, malformation of | Enrichment | GATA4 | 1.60 |
| 202 | Patent foramen ovale | Enrichment | GATA4 | 1.60 |
| 203 | Arteriovenous malformations of the brain | Enrichment | BRAF | 1.60 |
| 204 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.48 |
| 205 | Familial atrial fibrillation | Enrichment | GATA4 | 1.48 |
| 206 | Pancreatic cancer | Enrichment | KRAS | 1.46 |
| 207 | Tetralogy of fallot | Enrichment | GATA4 | 1.45 |
| 208 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.45 |
| 209 | Endometrial cancer | Enrichment | PIK3CA | 1.39 |
| 210 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.37 |
| 211 | Malaria | Enrichment | MAPKAPK3 | 1.35 |
| 212 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.34 |
| 213 | Left ventricular noncompaction | Enrichment | RAF1 | 1.32 |
| 214 | Prostate cancer | Enrichment | PIK3CA | 1.25 |
| 215 | Gastric cancer | Enrichment | KRAS | 1.23 |
| 216 | Hereditary breast carcinoma | Enrichment | KRAS | 1.22 |
| 217 | Body mass index quantitative trait locus 11 | Enrichment | GNAS | 1.19 |
| 218 | Spastic ataxia | Enrichment | ITPR1 | 1.14 |
| 219 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 1.14 |
| 220 | Myeloma, multiple | Enrichment | BRAF | 1.14 |
| 221 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 1.13 |
| 222 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | GATA4 | 1.12 |
| 223 | Hypertelorism | Enrichment | PIK3CA | 1.01 |
| 224 | Breast cancer | Enrichment | KRAS | 1.00 |
| 225 | Dilated cardiomyopathy | Enrichment | BRAF | 1.00 |
| 226 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.87 |