| 1 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, JAK2, STAT3 | 7.97 |
| 2 | Lung non-small cell carcinoma | Enrichment | IRF1, MAP2K1, PIK3CA | 5.75 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, MAP2K1, PTPN11 | 5.32 |
| 4 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.82 |
| 5 | Noonan syndrome 1 | Enrichment | CBL, MAP2K1, PTPN11 | 4.73 |
| 6 | Rasopathy | Enrichment | CBL, MAP2K1, PTPN11 | 4.57 |
| 7 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 4.52 |
| 8 | Myeloproliferative neoplasm | Enrichment | CBL, JAK2 | 4.30 |
| 9 | Hemimegalencephaly | Enrichment | MTOR, PIK3CA | 4.30 |
| 10 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 4.12 |
| 11 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 3.98 |
| 12 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.98 |
| 13 | Gastric cancer | Enrichment | IL1B, IRF1, PIK3CA | 3.90 |
| 14 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA | 3.74 |
| 15 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.74 |
| 16 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA | 3.65 |
| 17 | Juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 3.48 |
| 18 | Meningioma | Enrichment | AKT1, PIK3CA | 3.48 |
| 19 | Diffuse large b-cell lymphoma | Enrichment | SOCS1, STAT3 | 3.07 |
| 20 | Colorectal cancer | Enrichment | AKT1, PIK3CA, PIK3R1 | 3.00 |
| 21 | Ovarian cancer | Enrichment | AKT1, MAP3K1, PIK3CA | 2.81 |
| 22 | Macrodactyly | Enrichment | PIK3CA | 2.64 |
| 23 | Proteus syndrome | Enrichment | AKT1 | 2.64 |
| 24 | Metachondromatosis | Enrichment | PTPN11 | 2.64 |
| 25 | Helicobacter pylori infection | Enrichment | IFNGR1 | 2.64 |
| 26 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.64 |
| 27 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.64 |
| 28 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.64 |
| 29 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.64 |
| 30 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.64 |
| 31 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.64 |
| 32 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.64 |
| 33 | Immunodeficiency 27a | Enrichment | IFNGR1 | 2.64 |
| 34 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.64 |
| 35 | Immunodeficiency 69 | Enrichment | IFNG | 2.64 |
| 36 | Short syndrome | Enrichment | PIK3R1 | 2.64 |
| 37 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.64 |
| 38 | Immunodeficiency 27b | Enrichment | IFNGR1 | 2.64 |
| 39 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.64 |
| 40 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.64 |
| 41 | Melorheostosis | Enrichment | MAP2K1 | 2.64 |
| 42 | Immunodeficiency 31a | Enrichment | STAT1 | 2.64 |
| 43 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.64 |
| 44 | Cowden syndrome 6 | Enrichment | AKT1 | 2.64 |
| 45 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.64 |
| 46 | Colorectal cancer 3 | Enrichment | SMAD7 | 2.64 |
| 47 | Immunodeficiency 31b | Enrichment | STAT1 | 2.64 |
| 48 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.64 |
| 49 | Immunodeficiency 65 viral infections | Enrichment | IRF9 | 2.64 |
| 50 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.64 |
| 51 | Hypospadias | Enrichment | PIK3CA | 2.64 |
| 52 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.64 |
| 53 | Rare venous malformation | Enrichment | PIK3CA | 2.64 |
| 54 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.64 |
| 55 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.64 |
| 56 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.64 |
| 57 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.64 |
| 58 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.64 |
| 59 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.64 |
| 60 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.64 |
| 61 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.64 |
| 62 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.64 |
| 63 | Macrodactyly of toe | Enrichment | PIK3CA | 2.64 |
| 64 | Malignant astrocytoma | Enrichment | PTPN11 | 2.64 |
| 65 | Lung cancer | Enrichment | IRF1, PIK3CA | 2.62 |
| 66 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 2.35 |
| 67 | Ovarian germ cell cancer | Enrichment | CBL | 2.34 |
| 68 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.34 |
| 69 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.34 |
| 70 | Thrombocythemia 3 | Enrichment | JAK2 | 2.34 |
| 71 | Immunodeficiency 31c | Enrichment | STAT1 | 2.34 |
| 72 | Werner syndrome | Enrichment | PTPN11 | 2.34 |
| 73 | Cebalid syndrome | Enrichment | MTOR | 2.34 |
| 74 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.34 |
| 75 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.34 |
| 76 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.34 |
| 77 | Polycythemia | Enrichment | JAK2 | 2.34 |
| 78 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.34 |
| 79 | Immunodeficiency 117 | Enrichment | IRF1 | 2.34 |
| 80 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.34 |
| 81 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.16 |
| 82 | Immune thrombocytopenia | Enrichment | SOCS1 | 2.16 |
| 83 | Polycythemia vera | Enrichment | JAK2 | 2.16 |
| 84 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.16 |
| 85 | Tuberous sclerosis 1 | Enrichment | IFNG | 2.16 |
| 86 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 2.16 |
| 87 | Hepatitis c virus | Enrichment | IFNG | 2.16 |
| 88 | Tuberous sclerosis 2 | Enrichment | IFNG | 2.16 |
| 89 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.16 |
| 90 | Autoinflammatory syndrome, familial, with or without immunodeficiency | Enrichment | SOCS1 | 2.16 |
| 91 | Hyper ige syndrome | Enrichment | STAT3 | 2.16 |
| 92 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.16 |
| 93 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.16 |
| 94 | Keratoacanthoma | Enrichment | PIK3CA | 2.16 |
| 95 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 2.04 |
| 96 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 2.04 |
| 97 | Anemia, autoimmune hemolytic | Enrichment | SOCS1 | 2.04 |
| 98 | Budd-chiari syndrome | Enrichment | JAK2 | 2.04 |
| 99 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.04 |
| 100 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | CRKL | 2.04 |
| 101 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 2.04 |
| 102 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 2.04 |
| 103 | Hepatitis b | Enrichment | IFNGR1 | 2.04 |
| 104 | Cerebrovascular disease | Enrichment | PIK3CA | 2.04 |
| 105 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 2.04 |
| 106 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.04 |
| 107 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 2.04 |
| 108 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.94 |
| 109 | Lymphoma | Enrichment | PTPN11 | 1.94 |
| 110 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.94 |
| 111 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.94 |
| 112 | Breast cancer | Enrichment | AKT1, PIK3CA | 1.90 |
| 113 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.87 |
| 114 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.87 |
| 115 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.87 |
| 116 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.87 |
| 117 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.87 |
| 118 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.87 |
| 119 | Nevus, epidermal | Enrichment | PIK3CA | 1.80 |
| 120 | Myelofibrosis | Enrichment | JAK2 | 1.80 |
| 121 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.80 |
| 122 | Noonan syndrome 3 | Enrichment | PTPN11 | 1.80 |
| 123 | Essential thrombocythemia | Enrichment | JAK2 | 1.80 |
| 124 | Gallbladder cancer | Enrichment | PIK3CA | 1.80 |
| 125 | Oligoarticular juvenile idiopathic arthritis | Enrichment | PTPN2 | 1.80 |
| 126 | Rheumatoid factor-negative juvenile idiopathic arthritis | Enrichment | PTPN2 | 1.80 |
| 127 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.74 |
| 128 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.69 |
| 129 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.69 |
| 130 | Aplastic anemia | Enrichment | IFNG | 1.65 |
| 131 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.65 |
| 132 | Pectus excavatum | Enrichment | PTPN11 | 1.60 |
| 133 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.60 |
| 134 | Specific learning disability | Enrichment | PTPN11 | 1.60 |
| 135 | Autism spectrum disorder | Enrichment | MAP2K1, PTPN11 | 1.59 |
| 136 | Epicanthus | Enrichment | PTPN11 | 1.57 |
| 137 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.57 |
| 138 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.57 |
| 139 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.53 |
| 140 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1 | 1.50 |
| 141 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.47 |
| 142 | Lynch syndrome | Enrichment | PIK3CA | 1.47 |
| 143 | Rare genetic intellectual disability | Enrichment | MTOR | 1.47 |
| 144 | Rhabdomyosarcoma | Enrichment | CBL | 1.44 |
| 145 | Human immunodeficiency virus type 1 | Enrichment | IFNG | 1.39 |
| 146 | Patent foramen ovale | Enrichment | PTPN11 | 1.39 |
| 147 | Behcet syndrome | Enrichment | IFNGR1 | 1.37 |
| 148 | Endometrial cancer | Enrichment | PIK3CA | 1.33 |
| 149 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.31 |
| 150 | Scoliosis | Enrichment | PTPN11 | 1.27 |
| 151 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 1.24 |
| 152 | Strabismus | Enrichment | PTPN11 | 1.22 |
| 153 | Bladder cancer | Enrichment | PIK3CA | 1.19 |
| 154 | Prostate cancer | Enrichment | PIK3CA | 1.19 |
| 155 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.18 |
| 156 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 1.16 |
| 157 | Nephronophthisis | Enrichment | PIAS1 | 1.14 |
| 158 | Systemic lupus erythematosus | Enrichment | SOCS1 | 1.07 |
| 159 | Leukemia, acute myeloid | Enrichment | JAK2 | 1.06 |
| 160 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 1.03 |
| 161 | Thrombocytopenia | Enrichment | PTPN11 | 0.98 |
| 162 | Hypertelorism | Enrichment | PIK3CA | 0.95 |
| 163 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.92 |
| 164 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.90 |
| 165 | Microcephaly | Enrichment | PTPN11 | 0.61 |
| 166 | Inherited cancer-predisposing syndrome | Enrichment | PTPN11 | 0.58 |