| 1 | Colorectal cancer | Enrichment | AKT1, CDH1, FGFR2, FGFR3, MET, PIK3CA, PIK3R1, SRC | 8.77 |
| 2 | Breast cancer | Enrichment | AKT1, CDH1, JUN, PIK3CA, SHC1 | 4.94 |
| 3 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1, CTNND1 | 4.81 |
| 4 | Keratosis, seborrheic | Enrichment | FGFR3, PIK3CA | 4.81 |
| 5 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 4.81 |
| 6 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 4.81 |
| 7 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 4.81 |
| 8 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, PTPN11, SOS1 | 4.58 |
| 9 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.33 |
| 10 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 4.33 |
| 11 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | Enrichment | FGF23, KL | 4.33 |
| 12 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.33 |
| 13 | Endometrial cancer | Enrichment | CDH1, FGFR2, PIK3CA | 4.12 |
| 14 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 4.03 |
| 15 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 4.03 |
| 16 | Noonan syndrome 1 | Enrichment | CBL, PTPN11, SOS1 | 4.00 |
| 17 | Kallmann syndrome | Enrichment | DUSP6, FGFR1, IL17RD | 4.00 |
| 18 | Rasopathy | Enrichment | CBL, PTPN11, SOS1 | 3.84 |
| 19 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 3.81 |
| 20 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.64 |
| 21 | Lung squamous cell carcinoma | Enrichment | FGFR3, PIK3CA | 3.64 |
| 22 | Cleft lip with or without cleft palate | Enrichment | CDH1, CTNND1 | 3.64 |
| 23 | Nevus, epidermal | Enrichment | FGFR3, PIK3CA | 3.49 |
| 24 | Noonan syndrome 3 | Enrichment | PTPN11, SOS1 | 3.49 |
| 25 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.26 |
| 26 | Gastric cancer | Enrichment | CDH1, FGFR2, PIK3CA | 3.18 |
| 27 | Ovarian cancer | Enrichment | AKT1, CDH1, MET, PIK3CA | 3.16 |
| 28 | Hereditary breast carcinoma | Enrichment | AKT1, CDH1, PIK3CA | 3.15 |
| 29 | Juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 3.00 |
| 30 | Meningioma | Enrichment | AKT1, PIK3CA | 3.00 |
| 31 | Acute promyelocytic leukemia | Enrichment | STAT3, STAT5B | 2.93 |
| 32 | Gliosarcoma | Enrichment | FGFR1, FGFR3 | 2.74 |
| 33 | Alzheimer disease, familial, 1 | Enrichment | PLAU, PSEN1 | 2.69 |
| 34 | Giant cell glioblastoma | Enrichment | FGFR1, FGFR3 | 2.69 |
| 35 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | DUSP6, FGFR1 | 2.64 |
| 36 | Arteriovenous malformations of the brain | Enrichment | CDH2, IL17RD | 2.59 |
| 37 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.55 |
| 38 | Hepatocellular carcinoma | Enrichment | MET, PIK3CA | 2.47 |
| 39 | Hypochondroplasia | Enrichment | FGFR3 | 2.40 |
| 40 | Macrodactyly | Enrichment | PIK3CA | 2.40 |
| 41 | Proteus syndrome | Enrichment | AKT1 | 2.40 |
| 42 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.40 |
| 43 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.40 |
| 44 | Metachondromatosis | Enrichment | PTPN11 | 2.40 |
| 45 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.40 |
| 46 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.40 |
| 47 | Muenke syndrome | Enrichment | FGFR3 | 2.40 |
| 48 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.40 |
| 49 | Noonan syndrome 4 | Enrichment | SOS1 | 2.40 |
| 50 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.40 |
| 51 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.40 |
| 52 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.40 |
| 53 | Apert syndrome | Enrichment | FGFR2 | 2.40 |
| 54 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.40 |
| 55 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.40 |
| 56 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.40 |
| 57 | Iga nephropathy 3 | Enrichment | SPRY2 | 2.40 |
| 58 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.40 |
| 59 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.40 |
| 60 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.40 |
| 61 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.40 |
| 62 | Tumoral calcinosis, hyperphosphatemic, familial, 3 | Enrichment | KL | 2.40 |
| 63 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.40 |
| 64 | Short syndrome | Enrichment | PIK3R1 | 2.40 |
| 65 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.40 |
| 66 | Osteofibrous dysplasia | Enrichment | MET | 2.40 |
| 67 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.40 |
| 68 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.40 |
| 69 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.40 |
| 70 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.40 |
| 71 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.40 |
| 72 | 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 |
| 73 | Autism 9 | Enrichment | MET | 2.40 |
| 74 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.40 |
| 75 | Cardiomyopathy, dilated, 1u | Enrichment | PSEN1 | 2.40 |
| 76 | Immunodeficiency 31a | Enrichment | STAT1 | 2.40 |
| 77 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.40 |
| 78 | Cowden syndrome 6 | Enrichment | AKT1 | 2.40 |
| 79 | Hypogonadotropic hypogonadism 18 with or without anosmia | Enrichment | IL17RD | 2.40 |
| 80 | Hypogonadotropic hypogonadism 19 with or without anosmia | Enrichment | DUSP6 | 2.40 |
| 81 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.40 |
| 82 | Immunodeficiency 31b | Enrichment | STAT1 | 2.40 |
| 83 | Acne inversa, familial, 3 | Enrichment | PSEN1 | 2.40 |
| 84 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.40 |
| 85 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | Enrichment | FGF23 | 2.40 |
| 86 | Hartsfield syndrome | Enrichment | FGFR1 | 2.40 |
| 87 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.40 |
| 88 | Thrombocytopenia 6 | Enrichment | SRC | 2.40 |
| 89 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.40 |
| 90 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.40 |
| 91 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.40 |
| 92 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.40 |
| 93 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.40 |
| 94 | Hypospadias | Enrichment | PIK3CA | 2.40 |
| 95 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.40 |
| 96 | Breast lobular carcinoma | Enrichment | CDH1 | 2.40 |
| 97 | Rare venous malformation | Enrichment | PIK3CA | 2.40 |
| 98 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.40 |
| 99 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.40 |
| 100 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.40 |
| 101 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.40 |
| 102 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.40 |
| 103 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.40 |
| 104 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.40 |
| 105 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.40 |
| 106 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.40 |
| 107 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.40 |
| 108 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.40 |
| 109 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.40 |
| 110 | Macrodactyly of toe | Enrichment | PIK3CA | 2.40 |
| 111 | Malignant astrocytoma | Enrichment | PTPN11 | 2.40 |
| 112 | Bladder cancer | Enrichment | FGFR3, PIK3CA | 2.23 |
| 113 | Prostate cancer | Enrichment | CDH1, PIK3CA | 2.23 |
| 114 | Lung cancer | Enrichment | MET, PIK3CA | 2.15 |
| 115 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 2.10 |
| 116 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.10 |
| 117 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.10 |
| 118 | Ovarian germ cell cancer | Enrichment | CBL | 2.10 |
| 119 | Alzheimer disease 3 | Enrichment | PSEN1 | 2.10 |
| 120 | Quebec platelet disorder | Enrichment | PLAU | 2.10 |
| 121 | Cervical cancer | Enrichment | FGFR3 | 2.10 |
| 122 | Pulmonic stenosis | Enrichment | SOS1 | 2.10 |
| 123 | Pick disease of brain | Enrichment | PSEN1 | 2.10 |
| 124 | Aural atresia, congenital | Enrichment | FGFR2 | 2.10 |
| 125 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 2.10 |
| 126 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.10 |
| 127 | Immunodeficiency 31c | Enrichment | STAT1 | 2.10 |
| 128 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.10 |
| 129 | Blepharocheilodontic syndrome 2 | Enrichment | CTNND1 | 2.10 |
| 130 | Werner syndrome | Enrichment | PTPN11 | 2.10 |
| 131 | Childhood hepatocellular carcinoma | Enrichment | MET | 2.10 |
| 132 | Split hand-foot malformation | Enrichment | FGFR2 | 2.10 |
| 133 | Papillary renal cell carcinoma | Enrichment | MET | 2.10 |
| 134 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 2.10 |
| 135 | Cervix carcinoma | Enrichment | FGFR3 | 2.10 |
| 136 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 2.10 |
| 137 | Metaphyseal anadysplasia | Enrichment | MMP9 | 2.10 |
| 138 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.10 |
| 139 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.10 |
| 140 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.10 |
| 141 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 1.92 |
| 142 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.92 |
| 143 | Achondroplasia | Enrichment | FGFR3 | 1.92 |
| 144 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.92 |
| 145 | Larsen syndrome | Enrichment | FGFR3 | 1.92 |
| 146 | Hypophosphatemic rickets, autosomal dominant | Enrichment | FGF23 | 1.92 |
| 147 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.92 |
| 148 | Nuchal bleb, familial | Enrichment | SOS1 | 1.92 |
| 149 | Alzheimer disease 4 | Enrichment | PSEN1 | 1.92 |
| 150 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.92 |
| 151 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.92 |
| 152 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 1.92 |
| 153 | Hyper ige syndrome | Enrichment | STAT3 | 1.92 |
| 154 | Hamartoma | Enrichment | FGFR3 | 1.92 |
| 155 | Testicular germ cell cancer | Enrichment | FGFR3 | 1.92 |
| 156 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.92 |
| 157 | Cleidocranial dysplasia | Enrichment | RUNX2 | 1.92 |
| 158 | Spermatocytoma | Enrichment | FGFR3 | 1.92 |
| 159 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.92 |
| 160 | Renal cell carcinoma | Enrichment | MET | 1.92 |
| 161 | Testicular cancer | Enrichment | FGFR3 | 1.92 |
| 162 | Keratoacanthoma | Enrichment | PIK3CA | 1.92 |
| 163 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, MET, PTPN11 | 1.81 |
| 164 | Thrombocytopenia | Enrichment | PTPN11, SRC | 1.81 |
| 165 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1 | 1.80 |
| 166 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.80 |
| 167 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.80 |
| 168 | Cerebrovascular disease | Enrichment | PIK3CA | 1.80 |
| 169 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.80 |
| 170 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.80 |
| 171 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.80 |
| 172 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 1.80 |
| 173 | Glioma | Enrichment | FGFR2 | 1.80 |
| 174 | Gingival fibromatosis | Enrichment | SOS1 | 1.80 |
| 175 | Hypertelorism | Enrichment | FGFR2, PIK3CA | 1.74 |
| 176 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.70 |
| 177 | Alzheimer disease 2 | Enrichment | PLAU | 1.70 |
| 178 | Lymphoma | Enrichment | PTPN11 | 1.70 |
| 179 | Myeloproliferative neoplasm | Enrichment | CBL | 1.70 |
| 180 | Holoprosencephaly | Enrichment | FGFR1 | 1.70 |
| 181 | Histiocytoid hemangioma | Enrichment | FOS | 1.70 |
| 182 | Hemimegalencephaly | Enrichment | PIK3CA | 1.70 |
| 183 | Dementia | Enrichment | PSEN1 | 1.70 |
| 184 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.70 |
| 185 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.70 |
| 186 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | KLB, PTPN11 | 1.68 |
| 187 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.63 |
| 188 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.63 |
| 189 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | PSEN1 | 1.63 |
| 190 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.63 |
| 191 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.63 |
| 192 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.63 |
| 193 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.63 |
| 194 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.63 |
| 195 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.63 |
| 196 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.63 |
| 197 | Myelofibrosis | Enrichment | SRC | 1.56 |
| 198 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.56 |
| 199 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 1.56 |
| 200 | Semantic dementia | Enrichment | PSEN1 | 1.56 |
| 201 | Gallbladder cancer | Enrichment | PIK3CA | 1.56 |
| 202 | Pilomyxoid astrocytoma | Enrichment | FGFR1 | 1.56 |
| 203 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.56 |
| 204 | Early-onset autosomal dominant alzheimer disease | Enrichment | PSEN1 | 1.56 |
| 205 | Hypophosphatemic rickets | Enrichment | FGF23 | 1.56 |
| 206 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.50 |
| 207 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.50 |
| 208 | Arteriovenous malformation | Enrichment | PIK3CA | 1.45 |
| 209 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.45 |
| 210 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.45 |
| 211 | Progressive non-fluent aphasia | Enrichment | PSEN1 | 1.45 |
| 212 | Behavioral variant of frontotemporal dementia | Enrichment | PSEN1 | 1.45 |
| 213 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.41 |
| 214 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.41 |
| 215 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.41 |
| 216 | Primary bone dysplasia | Enrichment | FGFR3 | 1.41 |
| 217 | Pectus excavatum | Enrichment | PTPN11 | 1.37 |
| 218 | Frontotemporal dementia 1 | Enrichment | PSEN1 | 1.37 |
| 219 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.37 |
| 220 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.37 |
| 221 | Specific learning disability | Enrichment | PTPN11 | 1.37 |
| 222 | Epicanthus | Enrichment | PTPN11 | 1.33 |
| 223 | Septooptic dysplasia | Enrichment | FGFR1 | 1.33 |
| 224 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.33 |
| 225 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.33 |
| 226 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.33 |
| 227 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF, MET | 1.31 |
| 228 | Aortic valve disease 1 | Enrichment | SOS1 | 1.30 |
| 229 | Alzheimer's disease | Enrichment | PSEN1 | 1.30 |
| 230 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.26 |
| 231 | Osteoporosis | Enrichment | SRC | 1.26 |
| 232 | Cleft lip/palate | Enrichment | CDH1 | 1.26 |
| 233 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2 | 1.26 |
| 234 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.26 |
| 235 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 1.24 |
| 236 | Corpus callosum, agenesis of | Enrichment | CDH2 | 1.24 |
| 237 | Hydrocephalus | Enrichment | FGFR2 | 1.24 |
| 238 | Lynch syndrome | Enrichment | PIK3CA | 1.24 |
| 239 | Isolated corpus callosum agenesis | Enrichment | CDH2 | 1.24 |
| 240 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2 | 1.24 |
| 241 | Rhabdomyosarcoma | Enrichment | CBL | 1.21 |
| 242 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.21 |
| 243 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.21 |
| 244 | Congenital nervous system abnormality | Enrichment | FGFR3, PSEN1 | 1.18 |
| 245 | Nervous system disease | Enrichment | FGFR3, PSEN1 | 1.18 |
| 246 | Patent foramen ovale | Enrichment | PTPN11 | 1.16 |
| 247 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 1.16 |
| 248 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 1.14 |
| 249 | Hepatoblastoma | Enrichment | FGFR3 | 1.09 |
| 250 | Tooth agenesis | Enrichment | FGFR1 | 1.08 |
| 251 | Scoliosis | Enrichment | PTPN11 | 1.04 |
| 252 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 1.01 |
| 253 | Auditory neuropathy | Enrichment | CDH2 | 1.01 |
| 254 | Strabismus | Enrichment | PTPN11 | 0.99 |
| 255 | Long qt syndrome 1 | Enrichment | PTPN11 | 0.95 |
| 256 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 0.93 |
| 257 | Connective tissue disease | Enrichment | FGFR3 | 0.92 |
| 258 | Systemic lupus erythematosus | Enrichment | SPP1 | 0.84 |
| 259 | Nephrotic syndrome | Enrichment | RUNX2 | 0.80 |
| 260 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.80 |
| 261 | Sensorineural hearing loss | Enrichment | HGF | 0.76 |
| 262 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A | 0.74 |
| 263 | Familial isolated dilated cardiomyopathy | Enrichment | PSEN1 | 0.72 |
| 264 | Myeloma, multiple | Enrichment | FGFR3 | 0.70 |
| 265 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PSEN1 | 0.68 |
| 266 | Autism spectrum disorder | Enrichment | PTPN11 | 0.45 |
| 267 | Microcephaly | Enrichment | PTPN11 | 0.41 |