| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, HRAS, KRAS, NRAS, PTPN11, SOS1 | 10.78 |
| 2 | Noonan syndrome 1 | Enrichment | CBL, HRAS, KRAS, NRAS, PTPN11, SOS1 | 10.12 |
| 3 | Rasopathy | Enrichment | CBL, HRAS, KRAS, NRAS, PTPN11, SOS1 | 9.90 |
| 4 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 9.87 |
| 5 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 8.94 |
| 6 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, PTPN11, SOS1 | 8.56 |
| 7 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.96 |
| 8 | Juvenile myelomonocytic leukemia | Enrichment | CBL, KRAS, NRAS, PTPN11 | 7.41 |
| 9 | Leukemia, acute myeloid | Enrichment | JAK2, KIT, KRAS, NRAS | 6.52 |
| 10 | Lip and oral cavity carcinoma | Enrichment | HRAS, KIT, PIK3CA | 6.22 |
| 11 | Myelofibrosis | Enrichment | JAK2, SH2B3, SRC | 6.02 |
| 12 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.69 |
| 13 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 5.21 |
| 14 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 5.21 |
| 15 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2, STAT3 | 5.21 |
| 16 | Colorectal cancer | Enrichment | NRAS, PIK3CA, PIK3R1, SRC | 5.15 |
| 17 | Bladder cancer | Enrichment | HRAS, KRAS, PIK3CA | 5.01 |
| 18 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 5.01 |
| 19 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 4.91 |
| 20 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.91 |
| 21 | Testicular germ cell tumor | Enrichment | KIT, KITLG | 4.71 |
| 22 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA | 4.51 |
| 23 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 4.51 |
| 24 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 4.36 |
| 25 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 4.36 |
| 26 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.36 |
| 27 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 4.36 |
| 28 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 4.36 |
| 29 | Erythrocytosis, familial, 1 | Enrichment | JAK2, SH2B3 | 4.25 |
| 30 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 4.25 |
| 31 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 4.24 |
| 32 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 4.13 |
| 33 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 4.03 |
| 34 | Myeloproliferative neoplasm | Enrichment | CBL, JAK2 | 4.03 |
| 35 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS, PTPN11 | 3.93 |
| 36 | Acute promyelocytic leukemia | Enrichment | STAT3, STAT5B | 3.80 |
| 37 | Essential thrombocythemia | Enrichment | JAK2, SH2B3 | 3.71 |
| 38 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 3.67 |
| 39 | Ovarian cancer | Enrichment | KIT, KRAS, PIK3CA | 3.38 |
| 40 | Myeloma, multiple | Enrichment | KRAS, PIK3R2, SH2B3 | 3.17 |
| 41 | Lung cancer | Enrichment | KRAS, PIK3CA | 3.00 |
| 42 | Rhabdomyosarcoma | Enrichment | CBL, HRAS | 2.96 |
| 43 | Noonan syndrome 4 | Enrichment | SOS1 | 2.93 |
| 44 | Mastocytosis, cutaneous | Enrichment | KIT | 2.93 |
| 45 | Hyperpigmentation with or without hypopigmentation, familial progressive | Enrichment | KITLG | 2.93 |
| 46 | Skin/hair/eye pigmentation, variation in, 7 | Enrichment | KITLG | 2.93 |
| 47 | Immunodeficiency 22 | Enrichment | LCK | 2.93 |
| 48 | Thrombocytopenia 6 | Enrichment | SRC | 2.93 |
| 49 | Autoinflammatory disease, systemic, with vasculitis | Enrichment | LYN | 2.93 |
| 50 | Chronic mast cell leukemia | Enrichment | KIT | 2.93 |
| 51 | Deafness, autosomal dominant 69 | Enrichment | KITLG | 2.93 |
| 52 | Isolated bone marrow mastocytosis | Enrichment | KIT | 2.93 |
| 53 | Smoldering systemic mastocytosis | Enrichment | KIT | 2.93 |
| 54 | Vegetative pyoderma gangrenosum | Enrichment | PTPN6 | 2.93 |
| 55 | Bullous pyoderma gangrenosum | Enrichment | PTPN6 | 2.93 |
| 56 | Pustular pyoderma gangrenosum | Enrichment | PTPN6 | 2.93 |
| 57 | Mastocytosis | Enrichment | KIT | 2.93 |
| 58 | Familial progressive hyperpigmentation | Enrichment | KITLG | 2.93 |
| 59 | Growth retardation-mild developmental delay-chronic hepatitis syndrome | Enrichment | SH2B3 | 2.93 |
| 60 | Cutaneous mastocytoma | Enrichment | KIT | 2.93 |
| 61 | Typical urticaria pigmentosa | Enrichment | KIT | 2.93 |
| 62 | Classic pyoderma gangrenosum | Enrichment | PTPN6 | 2.93 |
| 63 | Nodular urticaria pigmentosa | Enrichment | KIT | 2.93 |
| 64 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.93 |
| 65 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 2.93 |
| 66 | Acute mast cell leukemia | Enrichment | KIT | 2.93 |
| 67 | Familial progressive hyper- and hypopigmentation | Enrichment | KITLG | 2.93 |
| 68 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 2.93 |
| 69 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.93 |
| 70 | Testis seminoma | Enrichment | KIT | 2.93 |
| 71 | Macrodactyly | Enrichment | PIK3CA | 2.83 |
| 72 | Oculoectodermal syndrome | Enrichment | KRAS | 2.83 |
| 73 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.83 |
| 74 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.83 |
| 75 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.83 |
| 76 | Noonan syndrome 6 | Enrichment | NRAS | 2.83 |
| 77 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.83 |
| 78 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.83 |
| 79 | Short syndrome | Enrichment | PIK3R1 | 2.83 |
| 80 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.83 |
| 81 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.83 |
| 82 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.83 |
| 83 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.83 |
| 84 | Immunodeficiency 31a | Enrichment | STAT1 | 2.83 |
| 85 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.83 |
| 86 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.83 |
| 87 | Immunodeficiency 31b | Enrichment | STAT1 | 2.83 |
| 88 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.83 |
| 89 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.83 |
| 90 | Hypospadias | Enrichment | PIK3CA | 2.83 |
| 91 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.83 |
| 92 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.83 |
| 93 | Rare venous malformation | Enrichment | PIK3CA | 2.83 |
| 94 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.83 |
| 95 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.83 |
| 96 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.83 |
| 97 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.83 |
| 98 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.83 |
| 99 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.83 |
| 100 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.83 |
| 101 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.83 |
| 102 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.83 |
| 103 | Macrodactyly of toe | Enrichment | PIK3CA | 2.83 |
| 104 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.83 |
| 105 | Diffuse large b-cell lymphoma | Enrichment | SOCS1, STAT3 | 2.81 |
| 106 | Gastric cancer | Enrichment | KRAS, PIK3CA | 2.75 |
| 107 | Hereditary breast carcinoma | Enrichment | KRAS, PIK3CA | 2.73 |
| 108 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.63 |
| 109 | Ovarian germ cell cancer | Enrichment | CBL | 2.63 |
| 110 | Pulmonic stenosis | Enrichment | SOS1 | 2.63 |
| 111 | Piebald trait | Enrichment | KIT | 2.63 |
| 112 | Waardenburg syndrome, type 2f | Enrichment | KITLG | 2.63 |
| 113 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.63 |
| 114 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 2.63 |
| 115 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 2.54 |
| 116 | Costello syndrome | Enrichment | HRAS | 2.53 |
| 117 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.53 |
| 118 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.53 |
| 119 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.53 |
| 120 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.53 |
| 121 | Thrombocythemia 3 | Enrichment | JAK2 | 2.53 |
| 122 | Immunodeficiency 31c | Enrichment | STAT1 | 2.53 |
| 123 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.53 |
| 124 | Polycythemia | Enrichment | JAK2 | 2.53 |
| 125 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.53 |
| 126 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.53 |
| 127 | Wooly hair nevus | Enrichment | HRAS | 2.53 |
| 128 | Metachondromatosis | Enrichment | PTPN11 | 2.51 |
| 129 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.51 |
| 130 | Deafness, autosomal recessive 114 | Enrichment | GRAP | 2.51 |
| 131 | Oocyte/zygote/embryo maturation arrest 21 | Enrichment | CHEK1 | 2.51 |
| 132 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.51 |
| 133 | Silver-russell syndrome due to maternal uniparental disomy of chromosome 7 | Enrichment | GRB10 | 2.51 |
| 134 | Malignant astrocytoma | Enrichment | PTPN11 | 2.51 |
| 135 | Thrombocythemia 1 | Enrichment | SH2B3 | 2.45 |
| 136 | Immune thrombocytopenia | Enrichment | SOCS1 | 2.45 |
| 137 | Nuchal bleb, familial | Enrichment | SOS1 | 2.45 |
| 138 | Neutrophilic dermatosis, acute febrile | Enrichment | PTPN6 | 2.45 |
| 139 | Autoinflammatory syndrome, familial, with or without immunodeficiency | Enrichment | SOCS1 | 2.45 |
| 140 | Testicular germ cell cancer | Enrichment | KIT | 2.45 |
| 141 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.35 |
| 142 | Polycythemia vera | Enrichment | JAK2 | 2.35 |
| 143 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.35 |
| 144 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.35 |
| 145 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.35 |
| 146 | Hyper ige syndrome | Enrichment | STAT3 | 2.35 |
| 147 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.35 |
| 148 | Spermatocytoma | Enrichment | HRAS | 2.35 |
| 149 | Keratoacanthoma | Enrichment | PIK3CA | 2.35 |
| 150 | Anemia, autoimmune hemolytic | Enrichment | SOCS1 | 2.33 |
| 151 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | KIT | 2.33 |
| 152 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 2.33 |
| 153 | Gingival fibromatosis | Enrichment | SOS1 | 2.33 |
| 154 | Breast cancer | Enrichment | KRAS, PIK3CA | 2.27 |
| 155 | Acute myeloid leukemia with maturation | Enrichment | KIT | 2.23 |
| 156 | Aggressive systemic mastocytosis | Enrichment | CBL | 2.23 |
| 157 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | KIT | 2.23 |
| 158 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.23 |
| 159 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.23 |
| 160 | Budd-chiari syndrome | Enrichment | JAK2 | 2.23 |
| 161 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 2.23 |
| 162 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.23 |
| 163 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.23 |
| 164 | Cerebrovascular disease | Enrichment | PIK3CA | 2.23 |
| 165 | Pilocytic astrocytoma | Enrichment | KRAS | 2.23 |
| 166 | Epidermolytic nevus | Enrichment | HRAS | 2.23 |
| 167 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.23 |
| 168 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.21 |
| 169 | Werner syndrome | Enrichment | PTPN11 | 2.21 |
| 170 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 2.21 |
| 171 | Metaphyseal anadysplasia | Enrichment | MMP9 | 2.21 |
| 172 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.13 |
| 173 | Hemimegalencephaly | Enrichment | PIK3CA | 2.13 |
| 174 | Inherited cancer-predisposing syndrome | Enrichment | KIT, PTPN11, SH2B3 | 2.11 |
| 175 | Gastrointestinal stromal tumor | Enrichment | KIT | 2.08 |
| 176 | Waardenburg syndrome, type 2e | Enrichment | KITLG | 2.08 |
| 177 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 2.05 |
| 178 | Cowden syndrome 1 | Enrichment | PIK3CA | 2.05 |
| 179 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 2.05 |
| 180 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 2.05 |
| 181 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.03 |
| 182 | Thrombocytopenia | Enrichment | PTPN11, SRC | 2.02 |
| 183 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.99 |
| 184 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.99 |
| 185 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.93 |
| 186 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.91 |
| 187 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | CHEK1 | 1.91 |
| 188 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.88 |
| 189 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.88 |
| 190 | Cowden syndrome | Enrichment | PIK3CA | 1.88 |
| 191 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.83 |
| 192 | Aortic valve disease 1 | Enrichment | SOS1 | 1.82 |
| 193 | Lymphoma | Enrichment | PTPN11 | 1.81 |
| 194 | Osteoporosis | Enrichment | SRC | 1.79 |
| 195 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.79 |
| 196 | Meningioma | Enrichment | PIK3CA | 1.76 |
| 197 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.73 |
| 198 | Protein-deficiency anemia | Enrichment | NRAS | 1.72 |
| 199 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.69 |
| 200 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.56 |
| 201 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.56 |
| 202 | Endometrial cancer | Enrichment | PIK3CA | 1.52 |
| 203 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.50 |
| 204 | Pectus excavatum | Enrichment | PTPN11 | 1.47 |
| 205 | Specific learning disability | Enrichment | PTPN11 | 1.47 |
| 206 | Pancreatic cancer | Enrichment | KRAS | 1.44 |
| 207 | Epicanthus | Enrichment | PTPN11 | 1.44 |
| 208 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.44 |
| 209 | Severe combined immunodeficiency | Enrichment | LCK | 1.42 |
| 210 | Prostate cancer | Enrichment | PIK3CA | 1.38 |
| 211 | Systemic lupus erythematosus | Enrichment | SOCS1 | 1.35 |
| 212 | Patent foramen ovale | Enrichment | PTPN11 | 1.27 |
| 213 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | KITLG | 1.22 |
| 214 | Scoliosis | Enrichment | PTPN11 | 1.14 |
| 215 | Hypertelorism | Enrichment | PIK3CA | 1.13 |
| 216 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 1.11 |
| 217 | Strabismus | Enrichment | PTPN11 | 1.09 |
| 218 | Primary ovarian insufficiency | Enrichment | JAK2 | 1.08 |
| 219 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.05 |
| 220 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.90 |
| 221 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.80 |
| 222 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GRAP | 0.62 |
| 223 | Autism spectrum disorder | Enrichment | PTPN11 | 0.54 |
| 224 | Microcephaly | Enrichment | PTPN11 | 0.50 |