| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K1, PTPN11, RAF1, SOS1 | 6.53 |
| 2 | Lung squamous cell carcinoma | Enrichment | EGFR, FGFR3, PIK3CA | 5.93 |
| 3 | Noonan syndrome 1 | Enrichment | MAP2K1, PTPN11, RAF1, SOS1 | 5.73 |
| 4 | Noonan syndrome 3 | Enrichment | PTPN11, RAF1, SOS1 | 5.69 |
| 5 | Rasopathy | Enrichment | MAP2K1, PTPN11, RAF1, SOS1 | 5.50 |
| 6 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA, TEK | 5.31 |
| 7 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA, TEK | 5.15 |
| 8 | Lung non-small cell carcinoma | Enrichment | EGFR, MAP2K1, PIK3CA | 5.02 |
| 9 | Keratosis, seborrheic | Enrichment | FGFR3, PIK3CA | 4.81 |
| 10 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.33 |
| 11 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 4.33 |
| 12 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.33 |
| 13 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, JAK2 | 4.33 |
| 14 | Primary ovarian insufficiency | Enrichment | JAK2, KDR, NOS3, NTRK1 | 4.06 |
| 15 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 4.03 |
| 16 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11, RAF1 | 4.03 |
| 17 | Glioma | Enrichment | FGFR2, NTRK3 | 4.03 |
| 18 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 3.81 |
| 19 | Bladder cancer | Enrichment | EGFR, FGFR3, PIK3CA | 3.69 |
| 20 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 3.64 |
| 21 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.64 |
| 22 | Nevus, epidermal | Enrichment | FGFR3, PIK3CA | 3.49 |
| 23 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 3.49 |
| 24 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NGF, NTRK1 | 3.49 |
| 25 | Pilomyxoid astrocytoma | Enrichment | NTRK2, RAF1 | 3.49 |
| 26 | Oligoarticular juvenile idiopathic arthritis | Enrichment | IL2RA, IL2RB | 3.49 |
| 27 | Rheumatoid factor-negative juvenile idiopathic arthritis | Enrichment | IL2RA, IL2RB | 3.49 |
| 28 | Colorectal cancer | Enrichment | FGFR2, FGFR3, PIK3CA, PIK3R1 | 3.41 |
| 29 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 3.37 |
| 30 | Adult hepatocellular carcinoma | Enrichment | EGF, PIK3CA | 3.26 |
| 31 | Meningioma | Enrichment | PDGFB, PIK3CA | 3.00 |
| 32 | Lip and oral cavity carcinoma | Enrichment | EGFR, PIK3CA | 3.00 |
| 33 | Nk-cell enteropathy | Enrichment | IGF1R, JAK3 | 2.93 |
| 34 | Hydrocephalus | Enrichment | FGFR2, PDGFRB | 2.80 |
| 35 | Gliosarcoma | Enrichment | EGFR, FGFR3 | 2.74 |
| 36 | Giant cell glioblastoma | Enrichment | EGFR, FGFR3 | 2.69 |
| 37 | Arteriovenous malformations of the brain | Enrichment | EGFR, IL6 | 2.59 |
| 38 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.55 |
| 39 | Endometrial cancer | Enrichment | FGFR2, PIK3CA | 2.51 |
| 40 | Breast cancer | Enrichment | IL2, PIK3CA, SHC1 | 2.48 |
| 41 | Hypochondroplasia | Enrichment | FGFR3 | 2.40 |
| 42 | Macrodactyly | Enrichment | PIK3CA | 2.40 |
| 43 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.40 |
| 44 | Metachondromatosis | Enrichment | PTPN11 | 2.40 |
| 45 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.40 |
| 46 | Muenke syndrome | Enrichment | FGFR3 | 2.40 |
| 47 | Helicobacter pylori infection | Enrichment | IFNGR1 | 2.40 |
| 48 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.40 |
| 49 | Type 1 diabetes mellitus 10 | Enrichment | IL2RA | 2.40 |
| 50 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.40 |
| 51 | Noonan syndrome 5 | Enrichment | RAF1 | 2.40 |
| 52 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.40 |
| 53 | Noonan syndrome 4 | Enrichment | SOS1 | 2.40 |
| 54 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.40 |
| 55 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.40 |
| 56 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.40 |
| 57 | Apert syndrome | Enrichment | FGFR2 | 2.40 |
| 58 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.40 |
| 59 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.40 |
| 60 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.40 |
| 61 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.40 |
| 62 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.40 |
| 63 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.40 |
| 64 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.40 |
| 65 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.40 |
| 66 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.40 |
| 67 | Immunodeficiency 27a | Enrichment | IFNGR1 | 2.40 |
| 68 | Angioedema, hereditary, 5 | Enrichment | ANGPT1 | 2.40 |
| 69 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.40 |
| 70 | Immunodeficiency 69 | Enrichment | IFNG | 2.40 |
| 71 | Stuve-wiedemann syndrome 2 | Enrichment | IL6ST | 2.40 |
| 72 | Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections | Enrichment | IL6ST | 2.40 |
| 73 | Developmental and epileptic encephalopathy 58 | Enrichment | NTRK2 | 2.40 |
| 74 | Venous malformations, multiple cutaneous and mucosal | Enrichment | TEK | 2.40 |
| 75 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | Enrichment | IL2RB | 2.40 |
| 76 | Short syndrome | Enrichment | PIK3R1 | 2.40 |
| 77 | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | Enrichment | GNAI1 | 2.40 |
| 78 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.40 |
| 79 | Immunodeficiency 27b | Enrichment | IFNGR1 | 2.40 |
| 80 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.40 |
| 81 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.40 |
| 82 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.40 |
| 83 | Melorheostosis | Enrichment | MAP2K1 | 2.40 |
| 84 | Leopard syndrome 2 | Enrichment | RAF1 | 2.40 |
| 85 | Glaucoma 1, open angle, o | Enrichment | NTF4 | 2.40 |
| 86 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.40 |
| 87 | Immunodeficiency 31a | Enrichment | STAT1 | 2.40 |
| 88 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.40 |
| 89 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.40 |
| 90 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.40 |
| 91 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.40 |
| 92 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.40 |
| 93 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.40 |
| 94 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.40 |
| 95 | Immunodeficiency 31b | Enrichment | STAT1 | 2.40 |
| 96 | Obesity, hyperphagia, and developmental delay | Enrichment | NTRK2 | 2.40 |
| 97 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.40 |
| 98 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.40 |
| 99 | Immunodeficiency 22 | Enrichment | LCK | 2.40 |
| 100 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.40 |
| 101 | Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections | Enrichment | IL6ST | 2.40 |
| 102 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.40 |
| 103 | Immunodeficiency 94 with autoinflammation and dysmorphic facies | Enrichment | IL6ST | 2.40 |
| 104 | Glaucoma 3, primary congenital, e | Enrichment | TEK | 2.40 |
| 105 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.40 |
| 106 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.40 |
| 107 | Trigonitis | Enrichment | RAF1 | 2.40 |
| 108 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.40 |
| 109 | Tufted angioma of skin | Enrichment | KDR | 2.40 |
| 110 | T-b+ severe combined immunodeficiency due to jak3 deficiency | Enrichment | JAK3 | 2.40 |
| 111 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.40 |
| 112 | Hypospadias | Enrichment | PIK3CA | 2.40 |
| 113 | Bockenheimer syndrome | Enrichment | TEK | 2.40 |
| 114 | Rare venous malformation | Enrichment | PIK3CA | 2.40 |
| 115 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.40 |
| 116 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.40 |
| 117 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.40 |
| 118 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.40 |
| 119 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.40 |
| 120 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.40 |
| 121 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.40 |
| 122 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.40 |
| 123 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.40 |
| 124 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.40 |
| 125 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.40 |
| 126 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.40 |
| 127 | Macrodactyly of toe | Enrichment | PIK3CA | 2.40 |
| 128 | Malignant astrocytoma | Enrichment | PTPN11 | 2.40 |
| 129 | Differentiated thyroid carcinoma | Enrichment | NTRK1, NTRK3 | 2.23 |
| 130 | Lung cancer | Enrichment | EGFR, PIK3CA | 2.15 |
| 131 | Ovarian cancer | Enrichment | EGFR, NTRK1, PIK3CA | 2.12 |
| 132 | Severe combined immunodeficiency | Enrichment | JAK3, LCK | 2.12 |
| 133 | Blue rubber bleb nevus | Enrichment | TEK | 2.10 |
| 134 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.10 |
| 135 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.10 |
| 136 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 2.10 |
| 137 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 2.10 |
| 138 | Cervical cancer | Enrichment | FGFR3 | 2.10 |
| 139 | Pulmonic stenosis | Enrichment | SOS1 | 2.10 |
| 140 | Immunodeficiency 41 with lymphoproliferation and autoimmunity | Enrichment | IL2RA | 2.10 |
| 141 | Aural atresia, congenital | Enrichment | FGFR2 | 2.10 |
| 142 | Pfeiffer syndrome | Enrichment | FGFR2 | 2.10 |
| 143 | Jackson-weiss syndrome | Enrichment | FGFR2 | 2.10 |
| 144 | Angioma, tufted | Enrichment | KDR | 2.10 |
| 145 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.10 |
| 146 | Thrombocythemia 3 | Enrichment | JAK2 | 2.10 |
| 147 | Immunodeficiency 31c | Enrichment | STAT1 | 2.10 |
| 148 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 2.10 |
| 149 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.10 |
| 150 | Werner syndrome | Enrichment | PTPN11 | 2.10 |
| 151 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.10 |
| 152 | Split hand-foot malformation | Enrichment | FGFR2 | 2.10 |
| 153 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.10 |
| 154 | Congenital mesoblastic nephroma | Enrichment | NTRK3 | 2.10 |
| 155 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.10 |
| 156 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.10 |
| 157 | Cervix carcinoma | Enrichment | FGFR3 | 2.10 |
| 158 | Fibrosarcoma | Enrichment | NTRK3 | 2.10 |
| 159 | Polycythemia | Enrichment | JAK2 | 2.10 |
| 160 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.10 |
| 161 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.10 |
| 162 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | JAK3 | 1.92 |
| 163 | Achondroplasia | Enrichment | FGFR3 | 1.92 |
| 164 | Larsen syndrome | Enrichment | FGFR3 | 1.92 |
| 165 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1 | 1.92 |
| 166 | Polycythemia vera | Enrichment | JAK2 | 1.92 |
| 167 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.92 |
| 168 | Tuberous sclerosis 1 | Enrichment | IFNG | 1.92 |
| 169 | Severe combined immunodeficiency, x-linked | Enrichment | IL2RG | 1.92 |
| 170 | Stuve-wiedemann syndrome 1 | Enrichment | IL6ST | 1.92 |
| 171 | Nuchal bleb, familial | Enrichment | SOS1 | 1.92 |
| 172 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.92 |
| 173 | Combined immunodeficiency, x-linked | Enrichment | IL2RG | 1.92 |
| 174 | Hepatitis c virus | Enrichment | IFNG | 1.92 |
| 175 | Tuberous sclerosis 2 | Enrichment | IFNG | 1.92 |
| 176 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.92 |
| 177 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.92 |
| 178 | Hamartoma | Enrichment | FGFR3 | 1.92 |
| 179 | Testicular germ cell cancer | Enrichment | FGFR3 | 1.92 |
| 180 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.92 |
| 181 | Spermatocytoma | Enrichment | FGFR3 | 1.92 |
| 182 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.92 |
| 183 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.92 |
| 184 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.92 |
| 185 | Stüve-wiedemann syndrome | Enrichment | IL6ST | 1.92 |
| 186 | Testicular cancer | Enrichment | FGFR3 | 1.92 |
| 187 | Keratoacanthoma | Enrichment | PIK3CA | 1.92 |
| 188 | Type 2 diabetes mellitus | Enrichment | IL6, IRS1 | 1.92 |
| 189 | Gastric cancer | Enrichment | FGFR2, PIK3CA | 1.90 |
| 190 | Kaposi sarcoma | Enrichment | IL6 | 1.80 |
| 191 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.80 |
| 192 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 1.80 |
| 193 | Budd-chiari syndrome | Enrichment | JAK2 | 1.80 |
| 194 | Auriculocondylar syndrome 1 | Enrichment | GNAI3 | 1.80 |
| 195 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.80 |
| 196 | Glaucoma 3, primary infantile, b | Enrichment | TEK | 1.80 |
| 197 | Achromatopsia 4 | Enrichment | GNAI3 | 1.80 |
| 198 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 1.80 |
| 199 | Hepatitis b | Enrichment | IFNGR1 | 1.80 |
| 200 | Cerebrovascular disease | Enrichment | PIK3CA | 1.80 |
| 201 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.80 |
| 202 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.80 |
| 203 | Adenosine deaminase deficiency | Enrichment | JAK3 | 1.80 |
| 204 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.80 |
| 205 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.80 |
| 206 | Gingival fibromatosis | Enrichment | SOS1 | 1.80 |
| 207 | Hereditary angioedema with normal c1inh not related to f12 or plg variant | Enrichment | ANGPT1 | 1.80 |
| 208 | Hypertelorism | Enrichment | FGFR2, PIK3CA | 1.74 |
| 209 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.70 |
| 210 | Alzheimer disease 2 | Enrichment | NOS3 | 1.70 |
| 211 | Martsolf syndrome 1 | Enrichment | ARHGAP35 | 1.70 |
| 212 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | JAK3 | 1.70 |
| 213 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.70 |
| 214 | Insulin-like growth factor i | Enrichment | IGF1R | 1.70 |
| 215 | Pre-eclampsia | Enrichment | NOS3 | 1.70 |
| 216 | Lymphoma | Enrichment | PTPN11 | 1.70 |
| 217 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.70 |
| 218 | Hemimegalencephaly | Enrichment | PIK3CA | 1.70 |
| 219 | Primary hypereosinophilic syndrome | Enrichment | PDGFRB | 1.70 |
| 220 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.70 |
| 221 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.63 |
| 222 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.63 |
| 223 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF | 1.63 |
| 224 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.63 |
| 225 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.63 |
| 226 | Hemangioma, capillary infantile | Enrichment | KDR | 1.63 |
| 227 | Anterior segment dysgenesis 5 | Enrichment | ARHGAP35 | 1.63 |
| 228 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.63 |
| 229 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.63 |
| 230 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.63 |
| 231 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.63 |
| 232 | Glaucoma 3, primary congenital, a | Enrichment | TEK | 1.56 |
| 233 | Myelofibrosis | Enrichment | JAK2 | 1.56 |
| 234 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.56 |
| 235 | Essential thrombocythemia | Enrichment | JAK2 | 1.56 |
| 236 | Gallbladder cancer | Enrichment | PIK3CA | 1.56 |
| 237 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.56 |
| 238 | Melanocytic nevus syndrome, congenital | Enrichment | RAF1 | 1.50 |
| 239 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.45 |
| 240 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.45 |
| 241 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.45 |
| 242 | Congenital central hypoventilation syndrome | Enrichment | BDNF | 1.45 |
| 243 | Ventricular septal defect | Enrichment | TEK | 1.45 |
| 244 | Cowden syndrome | Enrichment | PIK3CA | 1.45 |
| 245 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.41 |
| 246 | Peters-plus syndrome | Enrichment | ARHGAP35 | 1.41 |
| 247 | Omenn syndrome | Enrichment | IL2RG | 1.41 |
| 248 | Stroke, ischemic | Enrichment | NOS3 | 1.41 |
| 249 | Aplastic anemia | Enrichment | IFNG | 1.41 |
| 250 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.41 |
| 251 | Primary bone dysplasia | Enrichment | FGFR3 | 1.41 |
| 252 | Pectus excavatum | Enrichment | PTPN11 | 1.37 |
| 253 | Meningioma, familial | Enrichment | PDGFB | 1.37 |
| 254 | Combined immunodeficiency | Enrichment | IL2RG | 1.37 |
| 255 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.37 |
| 256 | Ichthyosis | Enrichment | IL2RB | 1.37 |
| 257 | Combined t cell and b cell immunodeficiency | Enrichment | IL2RG | 1.37 |
| 258 | Specific learning disability | Enrichment | PTPN11 | 1.37 |
| 259 | Combined t and b cell immunodeficiency | Enrichment | IL2RG | 1.37 |
| 260 | Epicanthus | Enrichment | PTPN11 | 1.33 |
| 261 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.33 |
| 262 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.33 |
| 263 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.33 |
| 264 | Aortic valve disease 1 | Enrichment | SOS1 | 1.30 |
| 265 | Lung cancer susceptibility 3 | Enrichment | EGFR | 1.26 |
| 266 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.26 |
| 267 | Lynch syndrome | Enrichment | PIK3CA | 1.24 |
| 268 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 1.18 |
| 269 | Hypertension, essential | Enrichment | NOS3 | 1.18 |
| 270 | Dandy-walker syndrome | Enrichment | PDGFRB | 1.18 |
| 271 | Human immunodeficiency virus type 1 | Enrichment | IFNG | 1.16 |
| 272 | Patent foramen ovale | Enrichment | PTPN11 | 1.16 |
| 273 | Autism spectrum disorder | Enrichment | MAP2K1, PTPN11 | 1.16 |
| 274 | Behcet syndrome | Enrichment | IFNGR1 | 1.14 |
| 275 | Hepatoblastoma | Enrichment | FGFR3 | 1.09 |
| 276 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.08 |
| 277 | Microcephaly | Enrichment | IGF1R, PTPN11 | 1.07 |
| 278 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.04 |
| 279 | Scoliosis | Enrichment | PTPN11 | 1.04 |
| 280 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, PTPN11 | 1.01 |
| 281 | Tetralogy of fallot | Enrichment | KDR | 1.01 |
| 282 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 1.01 |
| 283 | Strabismus | Enrichment | PTPN11 | 0.99 |
| 284 | Prostate cancer | Enrichment | PIK3CA | 0.96 |
| 285 | Severe covid-19 | Enrichment | JAK3 | 0.96 |
| 286 | Long qt syndrome 1 | Enrichment | PTPN11 | 0.95 |
| 287 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 0.93 |
| 288 | Connective tissue disease | Enrichment | FGFR3 | 0.92 |
| 289 | Peripheral nervous system disease | Enrichment | NGF | 0.92 |
| 290 | Neuropathy | Enrichment | NGF | 0.92 |
| 291 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.91 |
| 292 | Left ventricular noncompaction | Enrichment | RAF1 | 0.88 |
| 293 | Cerebral palsy | Enrichment | PDGFRB | 0.84 |
| 294 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.83 |
| 295 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.80 |
| 296 | West syndrome | Enrichment | NTRK2 | 0.79 |
| 297 | Hereditary breast carcinoma | Enrichment | PIK3CA | 0.79 |
| 298 | Thrombocytopenia | Enrichment | PTPN11 | 0.76 |
| 299 | Body mass index quantitative trait locus 11 | Enrichment | BDNF | 0.74 |
| 300 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.72 |
| 301 | Myeloma, multiple | Enrichment | FGFR3 | 0.70 |
| 302 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.70 |
| 303 | Undetermined early-onset epileptic encephalopathy | Enrichment | NTRK2 | 0.70 |
| 304 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.56 |
| 305 | Congenital nervous system abnormality | Enrichment | FGFR3 | 0.46 |
| 306 | Nervous system disease | Enrichment | FGFR3 | 0.46 |