| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1 | 10.92 |
| 2 | Lung non-small cell carcinoma | Enrichment | EGFR, HRAS, KRAS, MAP2K1, NRAS, PIK3CA | 10.38 |
| 3 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1 | 9.98 |
| 4 | Rasopathy | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1 | 9.64 |
| 5 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 7.24 |
| 6 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, PTPN11, RAF1 | 7.24 |
| 7 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, JAK2, STAT3 | 6.58 |
| 8 | Lip and oral cavity carcinoma | Enrichment | ABL1, EGFR, HRAS, PIK3CA | 6.10 |
| 9 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 5.98 |
| 10 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS, MAP2K1, MAP2K2 | 5.98 |
| 11 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 5.98 |
| 12 | Cardiofaciocutaneous syndrome | Enrichment | KRAS, MAP2K1, MAP2K2 | 5.98 |
| 13 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1, KRAS, NRAS | 5.98 |
| 14 | Hemimegalencephaly | Enrichment | AKT3, MTOR, PIK3CA | 5.58 |
| 15 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA | 5.28 |
| 16 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS, PIK3CA | 5.28 |
| 17 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1, PIK3CA | 5.04 |
| 18 | Leukemia, chronic myeloid | Enrichment | ABL1, KRAS, NRAS | 5.04 |
| 19 | Oligoarticular juvenile idiopathic arthritis | Enrichment | IL2RA, IL2RB, STAT4 | 5.04 |
| 20 | Rheumatoid factor-negative juvenile idiopathic arthritis | Enrichment | IL2RA, IL2RB, STAT4 | 5.04 |
| 21 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS, RAF1 | 4.84 |
| 22 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA | 4.67 |
| 23 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA | 4.51 |
| 24 | Bladder cancer | Enrichment | EGFR, HRAS, KRAS, PIK3CA | 4.46 |
| 25 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.38 |
| 26 | Immunodeficiency 31c | Enrichment | IL21R, STAT1 | 4.38 |
| 27 | Immunodeficiency 104, severe combined | Enrichment | IL7R, PTPRC | 4.38 |
| 28 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, PTPN11 | 4.25 |
| 29 | Severe combined immunodeficiency | Enrichment | IL7R, JAK3, LCK, PTPRC | 4.23 |
| 30 | Breast cancer | Enrichment | AKT1, IL7R, KRAS, PIK3CA, SHC1 | 3.91 |
| 31 | Langerhans cell histiocytosis | Enrichment | MAP2K1, NRAS | 3.91 |
| 32 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 3.91 |
| 33 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 3.91 |
| 34 | Behcet syndrome | Enrichment | CCR1, IL23R, STAT4 | 3.63 |
| 35 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.61 |
| 36 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11, RAF1 | 3.61 |
| 37 | Colorectal cancer | Enrichment | AKT1, NRAS, PIK3CA, PIK3R1, SRC | 3.60 |
| 38 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 3.21 |
| 39 | Il10-related early-onset inflammatory bowel disease | Enrichment | IL10RA, IL10RB | 3.21 |
| 40 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 3.07 |
| 41 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 3.07 |
| 42 | Myelofibrosis | Enrichment | JAK2, SRC | 3.07 |
| 43 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 3.07 |
| 44 | Pilomyxoid astrocytoma | Enrichment | KRAS, RAF1 | 3.07 |
| 45 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 3.07 |
| 46 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.07 |
| 47 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS, PTPN11 | 2.98 |
| 48 | Lung cancer | Enrichment | EGFR, KRAS, PIK3CA | 2.94 |
| 49 | Adult hepatocellular carcinoma | Enrichment | EGF, PIK3CA | 2.84 |
| 50 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 2.84 |
| 51 | Systemic lupus erythematosus | Enrichment | BLK, SOCS1, STAT4 | 2.69 |
| 52 | Leukemia, acute myeloid | Enrichment | JAK2, KRAS, NRAS | 2.66 |
| 53 | Specific learning disability | Enrichment | MAPK1, PTPN11 | 2.66 |
| 54 | Meningioma | Enrichment | AKT1, PIK3CA | 2.58 |
| 55 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PIK3CA | 2.54 |
| 56 | Acute promyelocytic leukemia | Enrichment | STAT3, STAT5B | 2.51 |
| 57 | Nk-cell enteropathy | Enrichment | IGF1R, JAK3 | 2.51 |
| 58 | Lung cancer susceptibility 3 | Enrichment | EGFR, KRAS | 2.44 |
| 59 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 2.38 |
| 60 | Ovarian cancer | Enrichment | AKT1, EGFR, KRAS, PIK3CA | 2.38 |
| 61 | Myeloma, multiple | Enrichment | IL7R, KRAS, PIK3R2 | 2.24 |
| 62 | Human immunodeficiency virus type 1 | Enrichment | CCR2, CCR5 | 2.23 |
| 63 | Macrodactyly | Enrichment | PIK3CA | 2.19 |
| 64 | Proteus syndrome | Enrichment | AKT1 | 2.19 |
| 65 | Metachondromatosis | Enrichment | PTPN11 | 2.19 |
| 66 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.19 |
| 67 | Oculoectodermal syndrome | Enrichment | KRAS | 2.19 |
| 68 | Type 1 diabetes mellitus 10 | Enrichment | IL2RA | 2.19 |
| 69 | Noonan syndrome 5 | Enrichment | RAF1 | 2.19 |
| 70 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.19 |
| 71 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.19 |
| 72 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.19 |
| 73 | Immunodeficiency 30 | Enrichment | IL12RB1 | 2.19 |
| 74 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 2.19 |
| 75 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.19 |
| 76 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.19 |
| 77 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.19 |
| 78 | Polycystic lung disease | Enrichment | CCR2 | 2.19 |
| 79 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.19 |
| 80 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.19 |
| 81 | Noonan syndrome 6 | Enrichment | NRAS | 2.19 |
| 82 | Whim syndrome 1 | Enrichment | CXCR4 | 2.19 |
| 83 | Craniosynostosis and dental anomalies | Enrichment | IL11RA | 2.19 |
| 84 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.19 |
| 85 | Pseudo-torch syndrome 3 | Enrichment | STAT2 | 2.19 |
| 86 | Stuve-wiedemann syndrome 2 | Enrichment | IL6ST | 2.19 |
| 87 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.19 |
| 88 | Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections | Enrichment | IL6ST | 2.19 |
| 89 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.19 |
| 90 | Hyper-ige syndrome 6, autosomal dominant, with recurrent infections | Enrichment | STAT6 | 2.19 |
| 91 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | Enrichment | IL2RB | 2.19 |
| 92 | Disabling pansclerotic morphea of childhood | Enrichment | STAT4 | 2.19 |
| 93 | Short syndrome | Enrichment | PIK3R1 | 2.19 |
| 94 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.19 |
| 95 | Systemic lupus erythematosus 11 | Enrichment | STAT4 | 2.19 |
| 96 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.19 |
| 97 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.19 |
| 98 | Psoriasis 7 | Enrichment | IL23R | 2.19 |
| 99 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.19 |
| 100 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.19 |
| 101 | Melorheostosis | Enrichment | MAP2K1 | 2.19 |
| 102 | Leopard syndrome 2 | Enrichment | RAF1 | 2.19 |
| 103 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.19 |
| 104 | Immunodeficiency 31a | Enrichment | STAT1 | 2.19 |
| 105 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.19 |
| 106 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.19 |
| 107 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.19 |
| 108 | Cowden syndrome 6 | Enrichment | AKT1 | 2.19 |
| 109 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.19 |
| 110 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.19 |
| 111 | Inflammatory bowel disease 17 | Enrichment | IL23R | 2.19 |
| 112 | Immunodeficiency 31b | Enrichment | STAT1 | 2.19 |
| 113 | Type 1 diabetes mellitus 22 | Enrichment | CCR5 | 2.19 |
| 114 | Immunodeficiency 105, severe combined | Enrichment | PTPRC | 2.19 |
| 115 | Immunodeficiency 22 | Enrichment | LCK | 2.19 |
| 116 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.19 |
| 117 | Thrombocytopenia 6 | Enrichment | SRC | 2.19 |
| 118 | Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections | Enrichment | IL6ST | 2.19 |
| 119 | Immunodeficiency 94 with autoinflammation and dysmorphic facies | Enrichment | IL6ST | 2.19 |
| 120 | Autoinflammatory disease, systemic, with vasculitis | Enrichment | LYN | 2.19 |
| 121 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | Enrichment | CSF1R | 2.19 |
| 122 | Cd45 deficiency | Enrichment | PTPRC | 2.19 |
| 123 | Trigonitis | Enrichment | RAF1 | 2.19 |
| 124 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.19 |
| 125 | T-b+ severe combined immunodeficiency due to jak3 deficiency | Enrichment | JAK3 | 2.19 |
| 126 | Csf1r-related disorder | Enrichment | CSF1R | 2.19 |
| 127 | Hypospadias | Enrichment | PIK3CA | 2.19 |
| 128 | Capillary hemangioma | Enrichment | AKT3 | 2.19 |
| 129 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.19 |
| 130 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.19 |
| 131 | Rare venous malformation | Enrichment | PIK3CA | 2.19 |
| 132 | Vegetative pyoderma gangrenosum | Enrichment | PTPN6 | 2.19 |
| 133 | Bullous pyoderma gangrenosum | Enrichment | PTPN6 | 2.19 |
| 134 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.19 |
| 135 | Chronic neutrophilic leukemia | Enrichment | CSF3R | 2.19 |
| 136 | Pustular pyoderma gangrenosum | Enrichment | PTPN6 | 2.19 |
| 137 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.19 |
| 138 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | Enrichment | CSF1R | 2.19 |
| 139 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.19 |
| 140 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.19 |
| 141 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.19 |
| 142 | T-b+ severe combined immunodeficiency due to il-7ralpha deficiency | Enrichment | IL7R | 2.19 |
| 143 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.19 |
| 144 | Classic pyoderma gangrenosum | Enrichment | PTPN6 | 2.19 |
| 145 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.19 |
| 146 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.19 |
| 147 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.19 |
| 148 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.19 |
| 149 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.19 |
| 150 | Macrodactyly of toe | Enrichment | PIK3CA | 2.19 |
| 151 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.19 |
| 152 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.19 |
| 153 | Malignant astrocytoma | Enrichment | PTPN11 | 2.19 |
| 154 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 2.18 |
| 155 | Diffuse large b-cell lymphoma | Enrichment | SOCS1, STAT3 | 2.18 |
| 156 | Microcephaly | Enrichment | ABL1, IGF1R, MAPK1, PTPN11 | 2.08 |
| 157 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 1.91 |
| 158 | Scoliosis, isolated 1 | Enrichment | MAPK7 | 1.89 |
| 159 | Costello syndrome | Enrichment | HRAS | 1.89 |
| 160 | Hemangiopericytoma, malignant | Enrichment | STAT6 | 1.89 |
| 161 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 1.89 |
| 162 | West nile virus | Enrichment | CCR5 | 1.89 |
| 163 | Immunodeficiency 41 with lymphoproliferation and autoimmunity | Enrichment | IL2RA | 1.89 |
| 164 | Inflammatory bowel disease 28, autosomal recessive | Enrichment | IL10RA | 1.89 |
| 165 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.89 |
| 166 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.89 |
| 167 | Neutrophilia, hereditary | Enrichment | CSF3R | 1.89 |
| 168 | Maturity-onset diabetes of the young, type 11 | Enrichment | BLK | 1.89 |
| 169 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.89 |
| 170 | Thrombocythemia 3 | Enrichment | JAK2 | 1.89 |
| 171 | Neutropenia, severe congenital, 7, autosomal recessive | Enrichment | CSF3R | 1.89 |
| 172 | Dystonia 30 | Enrichment | PTPRA | 1.89 |
| 173 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 1.89 |
| 174 | Werner syndrome | Enrichment | PTPN11 | 1.89 |
| 175 | Cebalid syndrome | Enrichment | MTOR | 1.89 |
| 176 | Immunodeficiency 56 | Enrichment | IL21R | 1.89 |
| 177 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.89 |
| 178 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.89 |
| 179 | Inflammatory bowel disease 28 | Enrichment | IL10RA | 1.89 |
| 180 | Severe congenital neutropenia 7 | Enrichment | CSF3R | 1.89 |
| 181 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 1.89 |
| 182 | Multiple sclerosis 3 | Enrichment | IL7R | 1.89 |
| 183 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.89 |
| 184 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.89 |
| 185 | Polycythemia | Enrichment | JAK2 | 1.89 |
| 186 | Hypereosinophilic syndrome | Enrichment | JAK2 | 1.89 |
| 187 | Tafro syndrome | Enrichment | MAP2K2 | 1.89 |
| 188 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 1.89 |
| 189 | Wooly hair nevus | Enrichment | HRAS | 1.89 |
| 190 | Severe covid-19 | Enrichment | IL10RB, JAK3 | 1.82 |
| 191 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | JAK3 | 1.71 |
| 192 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.71 |
| 193 | Immune thrombocytopenia | Enrichment | SOCS1 | 1.71 |
| 194 | Polycythemia vera | Enrichment | JAK2 | 1.71 |
| 195 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.71 |
| 196 | Leukoencephalopathy, hereditary diffuse, with spheroids 1 | Enrichment | CSF1R | 1.71 |
| 197 | Stuve-wiedemann syndrome 1 | Enrichment | IL6ST | 1.71 |
| 198 | Hepatitis c virus | Enrichment | CCR5 | 1.71 |
| 199 | Neutrophilic dermatosis, acute febrile | Enrichment | PTPN6 | 1.71 |
| 200 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.71 |
| 201 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.71 |
| 202 | Autoinflammatory syndrome, familial, with or without immunodeficiency | Enrichment | SOCS1 | 1.71 |
| 203 | Hyper ige syndrome | Enrichment | STAT3 | 1.71 |
| 204 | Inflammatory bowel disease 25 | Enrichment | IL10RB | 1.71 |
| 205 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.71 |
| 206 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.71 |
| 207 | Immunodeficiency 44 | Enrichment | STAT2 | 1.71 |
| 208 | Immunodeficiency, common variable, 11 | Enrichment | IL21 | 1.71 |
| 209 | Spermatocytoma | Enrichment | HRAS | 1.71 |
| 210 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.71 |
| 211 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.71 |
| 212 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.71 |
| 213 | Stüve-wiedemann syndrome | Enrichment | IL6ST | 1.71 |
| 214 | Keratoacanthoma | Enrichment | PIK3CA | 1.71 |
| 215 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.59 |
| 216 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.59 |
| 217 | Anemia, autoimmune hemolytic | Enrichment | SOCS1 | 1.59 |
| 218 | Budd-chiari syndrome | Enrichment | JAK2 | 1.59 |
| 219 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.59 |
| 220 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.59 |
| 221 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.59 |
| 222 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.59 |
| 223 | Hepatitis b | Enrichment | IL10RB | 1.59 |
| 224 | Cerebrovascular disease | Enrichment | PIK3CA | 1.59 |
| 225 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.59 |
| 226 | Pilocytic astrocytoma | Enrichment | KRAS | 1.59 |
| 227 | Epidermolytic nevus | Enrichment | HRAS | 1.59 |
| 228 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.59 |
| 229 | Adenosine deaminase deficiency | Enrichment | JAK3 | 1.59 |
| 230 | Pediatric systemic lupus erythematosus | Enrichment | STAT4 | 1.59 |
| 231 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.59 |
| 232 | Gastric cancer | Enrichment | KRAS, PIK3CA | 1.50 |
| 233 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.49 |
| 234 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | JAK3 | 1.49 |
| 235 | Insulin-like growth factor i | Enrichment | IGF1R | 1.49 |
| 236 | Lymphoma | Enrichment | PTPN11 | 1.49 |
| 237 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.49 |
| 238 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.42 |
| 239 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.42 |
| 240 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | IL10RB | 1.42 |
| 241 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.42 |
| 242 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.42 |
| 243 | Thrombocytopenia | Enrichment | PTPN11, SRC | 1.41 |
| 244 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.35 |
| 245 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.35 |
| 246 | Essential thrombocythemia | Enrichment | JAK2 | 1.35 |
| 247 | Megacolon | Enrichment | AKT3 | 1.35 |
| 248 | Moyamoya angiopathy | Enrichment | ABL1 | 1.35 |
| 249 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1 | 1.35 |
| 250 | Severe congenital neutropenia | Enrichment | CSF3R | 1.29 |
| 251 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.29 |
| 252 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.24 |
| 253 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | CSF3R | 1.24 |
| 254 | Primary biliary cholangitis | Enrichment | IL12RB1 | 1.24 |
| 255 | Omenn syndrome | Enrichment | IL7R | 1.20 |
| 256 | Polymicrogyria | Enrichment | AKT3 | 1.20 |
| 257 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.20 |
| 258 | Pectus excavatum | Enrichment | PTPN11 | 1.16 |
| 259 | Frontotemporal dementia 1 | Enrichment | CSF1R | 1.16 |
| 260 | Ichthyosis | Enrichment | IL2RB | 1.16 |
| 261 | Epicanthus | Enrichment | PTPN11 | 1.12 |
| 262 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.12 |
| 263 | Alzheimer's disease | Enrichment | CSF1R | 1.09 |
| 264 | Protein-deficiency anemia | Enrichment | NRAS | 1.09 |
| 265 | Osteoporosis | Enrichment | SRC | 1.06 |
| 266 | Heart disease | Enrichment | ABL1 | 1.06 |
| 267 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.03 |
| 268 | Rare genetic intellectual disability | Enrichment | MTOR | 1.03 |
| 269 | Rhabdomyosarcoma | Enrichment | HRAS | 1.00 |
| 270 | Gliosarcoma | Enrichment | EGFR | 1.00 |
| 271 | Alzheimer disease, familial, 1 | Enrichment | CSF1R | 0.98 |
| 272 | Giant cell glioblastoma | Enrichment | EGFR | 0.98 |
| 273 | Heart, malformation of | Enrichment | MAPK1 | 0.96 |
| 274 | Patent foramen ovale | Enrichment | PTPN11 | 0.96 |
| 275 | Maturity-onset diabetes of the young | Enrichment | BLK | 0.91 |
| 276 | Craniosynostosis | Enrichment | IL11RA | 0.91 |
| 277 | Endometrial cancer | Enrichment | PIK3CA | 0.89 |
| 278 | Hepatocellular carcinoma | Enrichment | PIK3CA | 0.87 |
| 279 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 0.86 |
| 280 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.84 |
| 281 | Scoliosis | Enrichment | PTPN11 | 0.84 |
| 282 | Pancreatic cancer | Enrichment | KRAS | 0.82 |
| 283 | Autism spectrum disorder | Enrichment | MAP2K1, PTPN11 | 0.80 |
| 284 | Strabismus | Enrichment | PTPN11 | 0.79 |
| 285 | Prostate cancer | Enrichment | PIK3CA | 0.76 |
| 286 | Long qt syndrome 1 | Enrichment | PTPN11 | 0.75 |
| 287 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.71 |
| 288 | Nephronophthisis | Enrichment | PIAS1 | 0.71 |
| 289 | Left ventricular noncompaction | Enrichment | RAF1 | 0.69 |
| 290 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, PTPN11 | 0.68 |
| 291 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.62 |
| 292 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.61 |
| 293 | Hypertelorism | Enrichment | PIK3CA | 0.54 |
| 294 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.53 |
| 295 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.52 |
| 296 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.51 |
| 297 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CSF1R | 0.50 |
| 298 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.50 |
| 299 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.39 |