| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K1, PTPN11, RAF1, SOS1 | 7.52 |
| 2 | Noonan syndrome 1 | Enrichment | MAP2K1, PTPN11, RAF1, SOS1 | 6.72 |
| 3 | Rasopathy | Enrichment | MAP2K1, PTPN11, RAF1, SOS1 | 6.49 |
| 4 | Noonan syndrome 3 | Enrichment | PTPN11, RAF1, SOS1 | 6.42 |
| 5 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 5.53 |
| 6 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2, STAT3 | 4.82 |
| 7 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11, YWHAZ | 4.71 |
| 8 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11, RAF1 | 4.52 |
| 9 | Hereditary pulmonary alveolar proteinosis | Enrichment | CSF2RA, CSF2RB | 4.30 |
| 10 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 3.98 |
| 11 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 3.93 |
| 12 | Specific learning disability | Enrichment | PTPN11, YWHAG | 3.75 |
| 13 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA | 3.74 |
| 14 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA | 3.65 |
| 15 | Lung non-small cell carcinoma | Enrichment | MAP2K1, PIK3CA | 3.56 |
| 16 | Acute promyelocytic leukemia | Enrichment | STAT3, STAT5B | 3.41 |
| 17 | Macrodactyly | Enrichment | PIK3CA | 2.99 |
| 18 | Metachondromatosis | Enrichment | PTPN11 | 2.99 |
| 19 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.99 |
| 20 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.99 |
| 21 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.99 |
| 22 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.99 |
| 23 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.99 |
| 24 | Short syndrome | Enrichment | PIK3R1 | 2.99 |
| 25 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.99 |
| 26 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.99 |
| 27 | Surfactant metabolism dysfunction, pulmonary, 5 | Enrichment | CSF2RB | 2.99 |
| 28 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.99 |
| 29 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.99 |
| 30 | Autoinflammatory disease, systemic, with vasculitis | Enrichment | LYN | 2.99 |
| 31 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.99 |
| 32 | Hypospadias | Enrichment | PIK3CA | 2.99 |
| 33 | Rare venous malformation | Enrichment | PIK3CA | 2.99 |
| 34 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.99 |
| 35 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.99 |
| 36 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.99 |
| 37 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.99 |
| 38 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.99 |
| 39 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.99 |
| 40 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.99 |
| 41 | Macrodactyly of toe | Enrichment | PIK3CA | 2.99 |
| 42 | Malignant astrocytoma | Enrichment | PTPN11 | 2.99 |
| 43 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.73 |
| 44 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.73 |
| 45 | Developmental and epileptic encephalopathy 56 | Enrichment | YWHAG | 2.73 |
| 46 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.73 |
| 47 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.69 |
| 48 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.69 |
| 49 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.69 |
| 50 | Thrombocythemia 3 | Enrichment | JAK2 | 2.69 |
| 51 | Werner syndrome | Enrichment | PTPN11 | 2.69 |
| 52 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.69 |
| 53 | Polycythemia | Enrichment | JAK2 | 2.69 |
| 54 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.69 |
| 55 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.69 |
| 56 | Surfactant metabolism dysfunction, pulmonary, 4 | Enrichment | CSF2RA | 2.64 |
| 57 | Noonan syndrome 5 | Enrichment | RAF1 | 2.64 |
| 58 | Noonan syndrome 4 | Enrichment | SOS1 | 2.64 |
| 59 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.64 |
| 60 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.64 |
| 61 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.64 |
| 62 | Immunodeficiency 32a | Enrichment | IRF8 | 2.64 |
| 63 | Immunodeficiency 15b | Enrichment | IKBKB | 2.64 |
| 64 | Pseudo-torch syndrome 3 | Enrichment | STAT2 | 2.64 |
| 65 | Immunodeficiency 82 with systemic inflammation | Enrichment | SYK | 2.64 |
| 66 | Immunodeficiency 15a | Enrichment | IKBKB | 2.64 |
| 67 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.64 |
| 68 | Melorheostosis | Enrichment | MAP2K1 | 2.64 |
| 69 | Leopard syndrome 2 | Enrichment | RAF1 | 2.64 |
| 70 | Immunodeficiency 31a | Enrichment | STAT1 | 2.64 |
| 71 | Immunodeficiency 31b | Enrichment | STAT1 | 2.64 |
| 72 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.64 |
| 73 | Trigonitis | Enrichment | RAF1 | 2.64 |
| 74 | Colitis | Enrichment | SYK | 2.64 |
| 75 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.64 |
| 76 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.64 |
| 77 | Polycythemia vera | Enrichment | JAK2 | 2.51 |
| 78 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.51 |
| 79 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.51 |
| 80 | Bacteremia 2 | Enrichment | CISH | 2.51 |
| 81 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.51 |
| 82 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.51 |
| 83 | Keratoacanthoma | Enrichment | PIK3CA | 2.51 |
| 84 | Colorectal cancer | Enrichment | PIK3CA, PIK3R1 | 2.45 |
| 85 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.43 |
| 86 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 2.38 |
| 87 | Budd-chiari syndrome | Enrichment | JAK2 | 2.38 |
| 88 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.38 |
| 89 | Cerebrovascular disease | Enrichment | PIK3CA | 2.38 |
| 90 | Tuberculosis | Enrichment | CISH | 2.38 |
| 91 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.38 |
| 92 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.34 |
| 93 | Immunodeficiency 32b | Enrichment | IRF8 | 2.34 |
| 94 | Pulmonic stenosis | Enrichment | SOS1 | 2.34 |
| 95 | Immunodeficiency 31c | Enrichment | STAT1 | 2.34 |
| 96 | Arthritis | Enrichment | SYK | 2.34 |
| 97 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.29 |
| 98 | Lymphoma | Enrichment | PTPN11 | 2.29 |
| 99 | Myeloproliferative neoplasm | Enrichment | JAK2 | 2.29 |
| 100 | Hemimegalencephaly | Enrichment | PIK3CA | 2.29 |
| 101 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 2.21 |
| 102 | Cowden syndrome 1 | Enrichment | PIK3CA | 2.21 |
| 103 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 2.21 |
| 104 | Patent ductus arteriosus | Enrichment | PTPN11 | 2.21 |
| 105 | Breast adenocarcinoma | Enrichment | PIK3CA | 2.21 |
| 106 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 2.21 |
| 107 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.16 |
| 108 | Nuchal bleb, familial | Enrichment | SOS1 | 2.16 |
| 109 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 2.16 |
| 110 | Hyper ige syndrome | Enrichment | STAT3 | 2.16 |
| 111 | Immunodeficiency 44 | Enrichment | STAT2 | 2.16 |
| 112 | Nevus, epidermal | Enrichment | PIK3CA | 2.14 |
| 113 | Myelofibrosis | Enrichment | JAK2 | 2.14 |
| 114 | Essential thrombocythemia | Enrichment | JAK2 | 2.14 |
| 115 | Gallbladder cancer | Enrichment | PIK3CA | 2.14 |
| 116 | Overgrowth syndrome | Enrichment | PIK3R1 | 2.14 |
| 117 | Breast cancer | Enrichment | PIK3CA, SHC1 | 2.08 |
| 118 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 2.04 |
| 119 | Congenital generalized lipodystrophy | Enrichment | FOS | 2.04 |
| 120 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 2.04 |
| 121 | Gingival fibromatosis | Enrichment | SOS1 | 2.04 |
| 122 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 2.03 |
| 123 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 2.03 |
| 124 | Cowden syndrome | Enrichment | PIK3CA | 2.03 |
| 125 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.99 |
| 126 | Pectus excavatum | Enrichment | PTPN11 | 1.95 |
| 127 | Histiocytoid hemangioma | Enrichment | FOS | 1.94 |
| 128 | Epicanthus | Enrichment | PTPN11 | 1.91 |
| 129 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.91 |
| 130 | Meningioma | Enrichment | PIK3CA | 1.91 |
| 131 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.91 |
| 132 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.91 |
| 133 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.87 |
| 134 | Lynch syndrome | Enrichment | PIK3CA | 1.81 |
| 135 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.80 |
| 136 | Melanocytic nevus syndrome, congenital | Enrichment | RAF1 | 1.74 |
| 137 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.74 |
| 138 | Patent foramen ovale | Enrichment | PTPN11 | 1.73 |
| 139 | Microcephaly | Enrichment | PTPN11, YWHAG | 1.67 |
| 140 | Endometrial cancer | Enrichment | PIK3CA | 1.67 |
| 141 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.65 |
| 142 | Malaria | Enrichment | CISH | 1.63 |
| 143 | Scoliosis | Enrichment | PTPN11 | 1.61 |
| 144 | Immune deficiency disease | Enrichment | SYK | 1.60 |
| 145 | Autism spectrum disorder | Enrichment | MAP2K1, PTPN11 | 1.59 |
| 146 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 1.58 |
| 147 | Strabismus | Enrichment | PTPN11 | 1.56 |
| 148 | Aortic valve disease 1 | Enrichment | SOS1 | 1.53 |
| 149 | Bladder cancer | Enrichment | PIK3CA | 1.53 |
| 150 | Prostate cancer | Enrichment | PIK3CA | 1.53 |
| 151 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.52 |
| 152 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.50 |
| 153 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 1.50 |
| 154 | Lung cancer | Enrichment | PIK3CA | 1.49 |
| 155 | Human immunodeficiency virus type 1 | Enrichment | CCL2 | 1.39 |
| 156 | Leukemia, acute myeloid | Enrichment | JAK2 | 1.39 |
| 157 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 1.37 |
| 158 | Esophageal atresia/tracheoesophageal fistula | Enrichment | IRF8 | 1.37 |
| 159 | Gastric cancer | Enrichment | PIK3CA | 1.36 |
| 160 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 1.36 |
| 161 | Hereditary breast carcinoma | Enrichment | PIK3CA | 1.35 |
| 162 | Thrombocytopenia | Enrichment | PTPN11 | 1.31 |
| 163 | Hypertelorism | Enrichment | PIK3CA | 1.28 |
| 164 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.27 |
| 165 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 1.25 |
| 166 | Primary ovarian insufficiency | Enrichment | JAK2 | 1.23 |
| 167 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.14 |
| 168 | Severe combined immunodeficiency | Enrichment | IKBKB | 1.14 |
| 169 | Left ventricular noncompaction | Enrichment | RAF1 | 1.11 |
| 170 | Autosomal dominant non-syndromic intellectual disability | Enrichment | YWHAZ | 1.05 |
| 171 | Undetermined early-onset epileptic encephalopathy | Enrichment | YWHAG | 1.01 |
| 172 | Ovarian cancer | Enrichment | PIK3CA | 1.00 |
| 173 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.94 |
| 174 | Inherited cancer-predisposing syndrome | Enrichment | PTPN11 | 0.89 |
| 175 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.78 |