| 1 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, JAK2, STAT3 | 7.47 |
| 2 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.49 |
| 3 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.80 |
| 4 | Noonan syndrome 3 | Enrichment | PTPN11, SOS1 | 3.65 |
| 5 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.42 |
| 6 | Lung non-small cell carcinoma | Enrichment | IRF1, PIK3CA | 3.24 |
| 7 | Meningioma | Enrichment | AKT1, PIK3CA | 3.16 |
| 8 | Noonan syndrome and noonan-related syndrome | Enrichment | PTPN11, SOS1 | 2.96 |
| 9 | Diffuse large b-cell lymphoma | Enrichment | FOXO1, STAT3 | 2.75 |
| 10 | Breast cancer | Enrichment | AKT1, JUN, PIK3CA | 2.71 |
| 11 | Noonan syndrome 1 | Enrichment | PTPN11, SOS1 | 2.58 |
| 12 | Colorectal cancer | Enrichment | AKT1, PIK3CA, PIK3R1 | 2.53 |
| 13 | Macrodactyly | Enrichment | PIK3CA | 2.48 |
| 14 | Proteus syndrome | Enrichment | AKT1 | 2.48 |
| 15 | Metachondromatosis | Enrichment | PTPN11 | 2.48 |
| 16 | Immunodeficiency 35 | Enrichment | TYK2 | 2.48 |
| 17 | Noonan syndrome 4 | Enrichment | SOS1 | 2.48 |
| 18 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.48 |
| 19 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 2.48 |
| 20 | Heterochromia iridis | Enrichment | MITF | 2.48 |
| 21 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.48 |
| 22 | Tietz albinism-deafness syndrome | Enrichment | MITF | 2.48 |
| 23 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.48 |
| 24 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.48 |
| 25 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.48 |
| 26 | Stuve-wiedemann syndrome 2 | Enrichment | IL6ST | 2.48 |
| 27 | Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections | Enrichment | IL6ST | 2.48 |
| 28 | Short syndrome | Enrichment | PIK3R1 | 2.48 |
| 29 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.48 |
| 30 | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | Enrichment | MITF | 2.48 |
| 31 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.48 |
| 32 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.48 |
| 33 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.48 |
| 34 | Immunodeficiency 31a | Enrichment | STAT1 | 2.48 |
| 35 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.48 |
| 36 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.48 |
| 37 | Cowden syndrome 6 | Enrichment | AKT1 | 2.48 |
| 38 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.48 |
| 39 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.48 |
| 40 | Immunodeficiency 31b | Enrichment | STAT1 | 2.48 |
| 41 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.48 |
| 42 | Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections | Enrichment | IL6ST | 2.48 |
| 43 | Immunodeficiency 94 with autoinflammation and dysmorphic facies | Enrichment | IL6ST | 2.48 |
| 44 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.48 |
| 45 | Autoinflammation with pulmonary and cutaneous vasculitis | Enrichment | HCK | 2.48 |
| 46 | Congenital fibrinogen deficiency | Enrichment | FGG | 2.48 |
| 47 | Hypospadias | Enrichment | PIK3CA | 2.48 |
| 48 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.48 |
| 49 | Rare venous malformation | Enrichment | PIK3CA | 2.48 |
| 50 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.48 |
| 51 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.48 |
| 52 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.48 |
| 53 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.48 |
| 54 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.48 |
| 55 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.48 |
| 56 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.48 |
| 57 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.48 |
| 58 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.48 |
| 59 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.48 |
| 60 | Macrodactyly of toe | Enrichment | PIK3CA | 2.48 |
| 61 | Malignant astrocytoma | Enrichment | PTPN11 | 2.48 |
| 62 | Rasopathy | Enrichment | PTPN11, SOS1 | 2.48 |
| 63 | Lung cancer | Enrichment | IRF1, PIK3CA | 2.30 |
| 64 | Burkitt lymphoma | Enrichment | MYC | 2.18 |
| 65 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.18 |
| 66 | Pulmonic stenosis | Enrichment | SOS1 | 2.18 |
| 67 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.18 |
| 68 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.18 |
| 69 | Thrombocythemia 3 | Enrichment | JAK2 | 2.18 |
| 70 | Osteopetrosis, autosomal recessive 2 | Enrichment | TNFSF11 | 2.18 |
| 71 | Immunodeficiency 31c | Enrichment | STAT1 | 2.18 |
| 72 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.18 |
| 73 | Werner syndrome | Enrichment | PTPN11 | 2.18 |
| 74 | Melanoma, cutaneous malignant 8 | Enrichment | MITF | 2.18 |
| 75 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.18 |
| 76 | Papillary renal cell carcinoma | Enrichment | MITF | 2.18 |
| 77 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.18 |
| 78 | Polycythemia | Enrichment | JAK2 | 2.18 |
| 79 | Lymphomatoid papulosis | Enrichment | TYK2 | 2.18 |
| 80 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.18 |
| 81 | Immunodeficiency 117 | Enrichment | IRF1 | 2.18 |
| 82 | Primary cutaneous anaplastic large cell lymphoma | Enrichment | TYK2 | 2.18 |
| 83 | Gastric cancer | Enrichment | IRF1, PIK3CA | 2.05 |
| 84 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 2.03 |
| 85 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.00 |
| 86 | Waardenburg syndrome, type 2a | Enrichment | MITF | 2.00 |
| 87 | Polycythemia vera | Enrichment | JAK2 | 2.00 |
| 88 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.00 |
| 89 | Stuve-wiedemann syndrome 1 | Enrichment | IL6ST | 2.00 |
| 90 | Nuchal bleb, familial | Enrichment | SOS1 | 2.00 |
| 91 | Dysfibrinogenemia, congenital | Enrichment | FGG | 2.00 |
| 92 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.00 |
| 93 | Hyper ige syndrome | Enrichment | STAT3 | 2.00 |
| 94 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 2.00 |
| 95 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.00 |
| 96 | Familial dysfibrinogenemia | Enrichment | FGG | 2.00 |
| 97 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.00 |
| 98 | Familial hypofibrinogenemia | Enrichment | FGG | 2.00 |
| 99 | Stüve-wiedemann syndrome | Enrichment | IL6ST | 2.00 |
| 100 | Keratoacanthoma | Enrichment | PIK3CA | 2.00 |
| 101 | Thrombocytopenia | Enrichment | FGG, PTPN11 | 1.96 |
| 102 | Kaposi sarcoma | Enrichment | IL6 | 1.88 |
| 103 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.88 |
| 104 | Afibrinogenemia, congenital | Enrichment | FGG | 1.88 |
| 105 | Budd-chiari syndrome | Enrichment | JAK2 | 1.88 |
| 106 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.88 |
| 107 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.88 |
| 108 | Cerebrovascular disease | Enrichment | PIK3CA | 1.88 |
| 109 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.88 |
| 110 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.88 |
| 111 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.88 |
| 112 | Autosomal recessive osteopetrosis | Enrichment | TNFSF11 | 1.88 |
| 113 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.88 |
| 114 | Clear cell papillary renal cell carcinoma | Enrichment | MITF | 1.88 |
| 115 | Gingival fibromatosis | Enrichment | SOS1 | 1.88 |
| 116 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.78 |
| 117 | Rhabdomyosarcoma 2 | Enrichment | FOXO1 | 1.78 |
| 118 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.78 |
| 119 | Lymphoma | Enrichment | PTPN11 | 1.78 |
| 120 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.78 |
| 121 | Histiocytoid hemangioma | Enrichment | FOS | 1.78 |
| 122 | Hemimegalencephaly | Enrichment | PIK3CA | 1.78 |
| 123 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.70 |
| 124 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.70 |
| 125 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.70 |
| 126 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.70 |
| 127 | Waardenburg syndrome, type 4a | Enrichment | MITF | 1.70 |
| 128 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.70 |
| 129 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.70 |
| 130 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.70 |
| 131 | Waardenburg syndrome | Enrichment | MITF | 1.70 |
| 132 | Nevus, epidermal | Enrichment | PIK3CA | 1.64 |
| 133 | Waardenburg syndrome, type 1 | Enrichment | MITF | 1.64 |
| 134 | Myelofibrosis | Enrichment | JAK2 | 1.64 |
| 135 | Waardenburg syndrome, type 2e | Enrichment | MITF | 1.64 |
| 136 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.64 |
| 137 | Essential thrombocythemia | Enrichment | JAK2 | 1.64 |
| 138 | Gallbladder cancer | Enrichment | PIK3CA | 1.64 |
| 139 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.64 |
| 140 | Spastic paraplegia 4, autosomal dominant | Enrichment | FGG | 1.58 |
| 141 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.58 |
| 142 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.53 |
| 143 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.53 |
| 144 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.53 |
| 145 | Arteriovenous malformation | Enrichment | PIK3CA | 1.53 |
| 146 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.53 |
| 147 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.49 |
| 148 | Melanoma | Enrichment | MITF | 1.49 |
| 149 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.49 |
| 150 | Pectus excavatum | Enrichment | PTPN11 | 1.44 |
| 151 | Specific learning disability | Enrichment | PTPN11 | 1.44 |
| 152 | Epicanthus | Enrichment | PTPN11 | 1.41 |
| 153 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.41 |
| 154 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.41 |
| 155 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.41 |
| 156 | Aortic valve disease 1 | Enrichment | SOS1 | 1.37 |
| 157 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.37 |
| 158 | Ovarian cancer | Enrichment | AKT1, PIK3CA | 1.35 |
| 159 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.34 |
| 160 | Lynch syndrome | Enrichment | PIK3CA | 1.31 |
| 161 | Melanoma, cutaneous malignant 1 | Enrichment | MITF | 1.26 |
| 162 | Patent foramen ovale | Enrichment | PTPN11 | 1.24 |
| 163 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.21 |
| 164 | Endometrial cancer | Enrichment | PIK3CA | 1.17 |
| 165 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.15 |
| 166 | Inherited cancer-predisposing syndrome | Enrichment | MITF, PTPN11 | 1.15 |
| 167 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 1.13 |
| 168 | Ear malformation | Enrichment | MITF | 1.12 |
| 169 | Scoliosis | Enrichment | PTPN11 | 1.12 |
| 170 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 1.08 |
| 171 | Strabismus | Enrichment | PTPN11 | 1.07 |
| 172 | Bladder cancer | Enrichment | PIK3CA | 1.04 |
| 173 | Prostate cancer | Enrichment | PIK3CA | 1.04 |
| 174 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.02 |
| 175 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 1.01 |
| 176 | Nephronophthisis | Enrichment | PIAS1 | 0.98 |
| 177 | Non-syndromic genetic deafness | Enrichment | MITF | 0.95 |
| 178 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.90 |
| 179 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.88 |
| 180 | Nonsyndromic hearing loss | Enrichment | MITF | 0.88 |
| 181 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.88 |
| 182 | Hypertelorism | Enrichment | PIK3CA | 0.80 |
| 183 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MITF | 0.80 |
| 184 | Hereditary breast ovarian cancer syndrome | Enrichment | MITF | 0.78 |
| 185 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.77 |
| 186 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.75 |
| 187 | Rare genetic deafness | Enrichment | MITF | 0.64 |
| 188 | Autism spectrum disorder | Enrichment | PTPN11 | 0.52 |
| 189 | Microcephaly | Enrichment | PTPN11 | 0.47 |