| 1 | Bone development disease | Direct | | |
| 2 | Rasopathy | Enrichment | BRAF, CBL, HRAS, KRAS, NRAS, PTPN11, SOS1 | 16.00 |
| 3 | Noonan syndrome 1 | Enrichment | BRAF, CBL, HRAS, KRAS, NRAS, PTPN11, SOS1 | 11.81 |
| 4 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, CBL, HRAS, KRAS, NRAS, PTPN11, SOS1 | 11.69 |
| 5 | Nevus, epidermal | Enrichment | FGFR3, HRAS, KRAS, NRAS, PIK3CA | 10.77 |
| 6 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, KRAS, NRAS, PIK3CA | 10.11 |
| 7 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, PTPN11, SOS1 | 8.64 |
| 8 | Kallmann syndrome | Enrichment | ANOS1, FGF17, FGF8, FGFR1 | 8.21 |
| 9 | Juvenile myelomonocytic leukemia | Enrichment | CBL, KRAS, NRAS, PTPN11 | 7.50 |
| 10 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.02 |
| 11 | Colorectal cancer | Enrichment | BRAF, FGFR3, NRAS, PIK3CA, PIK3R1, SRC | 6.73 |
| 12 | Lung squamous cell carcinoma | Enrichment | FGFR3, KRAS, PIK3CA | 6.33 |
| 13 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGF17, FGF8, FGFR1 | 6.15 |
| 14 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS | 6.08 |
| 15 | Gallbladder cancer | Enrichment | BRAF, KRAS, PIK3CA | 6.08 |
| 16 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS | 6.08 |
| 17 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, NRAS | 5.88 |
| 18 | Bladder cancer | Enrichment | FGFR3, HRAS, KRAS, PIK3CA | 5.84 |
| 19 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS, KRAS, NRAS | 5.84 |
| 20 | Pilomyxoid astrocytoma | Enrichment | BRAF, FGFR1, KRAS | 5.74 |
| 21 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | Enrichment | FGF23, KL | 5.30 |
| 22 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS, PIK3CA | 5.29 |
| 23 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 5.11 |
| 24 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, PTPN11 | 5.11 |
| 25 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 5.07 |
| 26 | Keratosis, seborrheic | Enrichment | FGFR3, PIK3CA | 5.07 |
| 27 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.07 |
| 28 | Holoprosencephaly | Enrichment | FGF8, FGFR1 | 5.01 |
| 29 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1, KRAS | 4.84 |
| 30 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 4.84 |
| 31 | Holoprosencephaly 1 | Enrichment | FGF8, FGFR1 | 4.83 |
| 32 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGF10, FGFR2 | 4.74 |
| 33 | Lung cancer susceptibility 3 | Enrichment | BRAF, FGF10, KRAS | 4.73 |
| 34 | Langerhans cell histiocytosis | Enrichment | BRAF, NRAS | 4.60 |
| 35 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.60 |
| 36 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.60 |
| 37 | Spermatocytoma | Enrichment | FGFR3, HRAS | 4.60 |
| 38 | Hypogonadotropic hypogonadism | Enrichment | ANOS1, FGFR1 | 4.45 |
| 39 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS | 4.30 |
| 40 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS | 4.30 |
| 41 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.30 |
| 42 | Specific learning disability | Enrichment | MAPK1, PTPN11 | 4.15 |
| 43 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | ANOS1, FGFR1 | 4.05 |
| 44 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS, PTPN11 | 4.00 |
| 45 | Lung cancer | Enrichment | BRAF, KRAS, PIK3CA | 3.95 |
| 46 | Microform holoprosencephaly | Enrichment | FGF8, FGFR1 | 3.93 |
| 47 | Lobar holoprosencephaly | Enrichment | FGF8, FGFR1 | 3.93 |
| 48 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA | 3.90 |
| 49 | Semilobar holoprosencephaly | Enrichment | FGF8, FGFR1 | 3.82 |
| 50 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 3.75 |
| 51 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.75 |
| 52 | Oculopharyngodistal myopathy 2 | Enrichment | GIPC1 | 3.66 |
| 53 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FGF8, KLB, PTPN11 | 3.56 |
| 54 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 3.52 |
| 55 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 3.42 |
| 56 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 3.23 |
| 57 | Trigonocephaly 1 | Enrichment | FGFR1 | 3.23 |
| 58 | Aplasia of lacrimal and salivary glands | Enrichment | FGF10 | 3.23 |
| 59 | Lacrimoauriculodentodigital syndrome 3 | Enrichment | FGF10 | 3.23 |
| 60 | Hartsfield syndrome | Enrichment | FGFR1 | 3.23 |
| 61 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 3.23 |
| 62 | Interstitial lung disease specific to childhood | Enrichment | FGF10 | 3.23 |
| 63 | Myeloma, multiple | Enrichment | BRAF, FGFR3, KRAS | 3.23 |
| 64 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 3.06 |
| 65 | Legius syndrome | Enrichment | SPRED1 | 3.02 |
| 66 | Hypogonadotropic hypogonadism 20 with or without anosmia | Enrichment | FGF17 | 3.02 |
| 67 | Noonan syndrome 14 | Enrichment | SPRED2 | 3.02 |
| 68 | Familial isolated trichomegaly | Enrichment | FGF5 | 3.02 |
| 69 | Hypogonadotropic hypogonadism 6 with or without anosmia | Enrichment | FGF8 | 3.02 |
| 70 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | Enrichment | FGF23 | 3.02 |
| 71 | Short-rib thoracic dysplasia 22 without polydactyly | Enrichment | FGF4 | 3.02 |
| 72 | Rhabdomyosarcoma | Enrichment | CBL, HRAS | 3.00 |
| 73 | Multiple synostoses syndrome 3 | Enrichment | FGF9 | 2.99 |
| 74 | Renal hypodysplasia/aplasia 2 | Enrichment | FGF20 | 2.99 |
| 75 | Familial cerebral saccular aneurysm | Enrichment | TGFBR3 | 2.96 |
| 76 | Otodental dysplasia | Enrichment | FGF3 | 2.93 |
| 77 | Pulmonary hypoplasia, primary | Enrichment | FGF10 | 2.93 |
| 78 | Pfeiffer syndrome | Enrichment | FGFR1 | 2.93 |
| 79 | Jackson-weiss syndrome | Enrichment | FGFR1 | 2.93 |
| 80 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | Enrichment | FGF3 | 2.93 |
| 81 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 2.93 |
| 82 | Oculootodental syndrome | Enrichment | FGF3 | 2.93 |
| 83 | Metachondromatosis | Enrichment | PTPN11 | 2.93 |
| 84 | Noonan syndrome 7 | Enrichment | BRAF | 2.93 |
| 85 | Leopard syndrome 3 | Enrichment | BRAF | 2.93 |
| 86 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.93 |
| 87 | Iga nephropathy 3 | Enrichment | SPRY2 | 2.93 |
| 88 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.93 |
| 89 | Houge-janssens syndrome 2 | Enrichment | PPP2R1A | 2.93 |
| 90 | Lymphangioma | Enrichment | BRAF | 2.93 |
| 91 | Phace association | Enrichment | BRAF | 2.93 |
| 92 | Thrombocytopenia 6 | Enrichment | SRC | 2.93 |
| 93 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.93 |
| 94 | Ganglioglioma | Enrichment | BRAF | 2.93 |
| 95 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.93 |
| 96 | Phace syndrome | Enrichment | BRAF | 2.93 |
| 97 | Ppp2r1a-related neurodevelopmental disorder | Enrichment | PPP2R1A | 2.93 |
| 98 | Classic hairy cell leukemia | Enrichment | BRAF | 2.93 |
| 99 | Malignant astrocytoma | Enrichment | PTPN11 | 2.93 |
| 100 | Tumoral calcinosis, hyperphosphatemic, familial, 3 | Enrichment | KL | 2.88 |
| 101 | Breast cancer | Enrichment | KRAS, PIK3CA, SHC1 | 2.86 |
| 102 | Arteriovenous malformations of the brain | Enrichment | BRAF, KRAS | 2.85 |
| 103 | Thrombocytopenia | Enrichment | PTPN11, SRC | 2.85 |
| 104 | Oculopharyngodistal myopathy 1 | Enrichment | GIPC1 | 2.81 |
| 105 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 2.75 |
| 106 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 2.75 |
| 107 | Trichomegaly | Enrichment | FGF5 | 2.72 |
| 108 | Hypochondroplasia | Enrichment | FGFR3 | 2.67 |
| 109 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.67 |
| 110 | Muenke syndrome | Enrichment | FGFR3 | 2.67 |
| 111 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.67 |
| 112 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.67 |
| 113 | Metacarpal 4-5 fusion | Enrichment | FGF16 | 2.67 |
| 114 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.67 |
| 115 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.67 |
| 116 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.67 |
| 117 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.67 |
| 118 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.67 |
| 119 | Ovarian germ cell cancer | Enrichment | CBL | 2.63 |
| 120 | Werner syndrome | Enrichment | PTPN11 | 2.63 |
| 121 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 2.63 |
| 122 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.63 |
| 123 | Submucosal cleft palate | Enrichment | UBB | 2.63 |
| 124 | Cleft hard palate | Enrichment | UBB | 2.63 |
| 125 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.60 |
| 126 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.60 |
| 127 | Apert syndrome | Enrichment | FGFR2 | 2.60 |
| 128 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.60 |
| 129 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.60 |
| 130 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 2.58 |
| 131 | Hypophosphatemic rickets, autosomal dominant | Enrichment | FGF23 | 2.54 |
| 132 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 2.53 |
| 133 | Macrodactyly | Enrichment | PIK3CA | 2.53 |
| 134 | Oculoectodermal syndrome | Enrichment | KRAS | 2.53 |
| 135 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.53 |
| 136 | Noonan syndrome 4 | Enrichment | SOS1 | 2.53 |
| 137 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.53 |
| 138 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.53 |
| 139 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.53 |
| 140 | Noonan syndrome 6 | Enrichment | NRAS | 2.53 |
| 141 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.53 |
| 142 | Short syndrome | Enrichment | PIK3R1 | 2.53 |
| 143 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.53 |
| 144 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.53 |
| 145 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.53 |
| 146 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.53 |
| 147 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.53 |
| 148 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.53 |
| 149 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.53 |
| 150 | Hypospadias | Enrichment | PIK3CA | 2.53 |
| 151 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.53 |
| 152 | Rare venous malformation | Enrichment | PIK3CA | 2.53 |
| 153 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.53 |
| 154 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.53 |
| 155 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.53 |
| 156 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.53 |
| 157 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.53 |
| 158 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.53 |
| 159 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.53 |
| 160 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.53 |
| 161 | Macrodactyly of toe | Enrichment | PIK3CA | 2.53 |
| 162 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.53 |
| 163 | Ataxia-telangiectasia | Enrichment | BRAF | 2.45 |
| 164 | Uvula, bifid | Enrichment | UBB | 2.45 |
| 165 | Cleft soft palate | Enrichment | UBB | 2.45 |
| 166 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.45 |
| 167 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.45 |
| 168 | Multiple synostoses syndrome | Enrichment | FGF9 | 2.38 |
| 169 | Cervical cancer | Enrichment | FGFR3 | 2.37 |
| 170 | Cervix carcinoma | Enrichment | FGFR3 | 2.37 |
| 171 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 2.33 |
| 172 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.33 |
| 173 | Craniopharyngioma | Enrichment | BRAF | 2.33 |
| 174 | Newborn respiratory distress syndrome | Enrichment | BRAF | 2.33 |
| 175 | Aural atresia, congenital | Enrichment | FGFR2 | 2.30 |
| 176 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.30 |
| 177 | Split hand-foot malformation | Enrichment | FGFR2 | 2.30 |
| 178 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.30 |
| 179 | Martsolf syndrome 1 | Enrichment | ANOS1 | 2.29 |
| 180 | Hypogonadotropic hypogonadism 1 with or without anosmia | Enrichment | ANOS1 | 2.29 |
| 181 | Pseudovaginal perineoscrotal hypospadias | Enrichment | ANOS1 | 2.29 |
| 182 | Orofacial cleft 1 | Enrichment | FGF10 | 2.28 |
| 183 | Lymphoma | Enrichment | PTPN11 | 2.23 |
| 184 | Myeloproliferative neoplasm | Enrichment | CBL | 2.23 |
| 185 | Aggressive systemic mastocytosis | Enrichment | CBL | 2.23 |
| 186 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.23 |
| 187 | Costello syndrome | Enrichment | HRAS | 2.23 |
| 188 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.23 |
| 189 | Wooly hair nevus | Enrichment | HRAS | 2.23 |
| 190 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 2.21 |
| 191 | Crouzon syndrome | Enrichment | FGFR3 | 2.19 |
| 192 | Achondroplasia | Enrichment | FGFR3 | 2.19 |
| 193 | Larsen syndrome | Enrichment | FGFR3 | 2.19 |
| 194 | Hamartoma | Enrichment | FGFR3 | 2.19 |
| 195 | Testicular germ cell cancer | Enrichment | FGFR3 | 2.19 |
| 196 | Testicular cancer | Enrichment | FGFR3 | 2.19 |
| 197 | Hypophosphatemic rickets | Enrichment | FGF23 | 2.17 |
| 198 | Septooptic dysplasia | Enrichment | FGFR1 | 2.15 |
| 199 | Wilms tumor 5 | Enrichment | BRAF | 2.15 |
| 200 | Patent ductus arteriosus | Enrichment | PTPN11 | 2.15 |
| 201 | Gastric cancer | Enrichment | KRAS, PIK3CA | 2.15 |
| 202 | Hereditary breast carcinoma | Enrichment | KRAS, PIK3CA | 2.13 |
| 203 | Spastic paraplegia, optic atrophy, and neuropathy | Enrichment | FLRT1 | 2.12 |
| 204 | Hypogonadotropic hypogonadism 21 with or without anosmia | Enrichment | FLRT3 | 2.12 |
| 205 | Myelofibrosis | Enrichment | SRC | 2.08 |
| 206 | Saethre-chotzen syndrome | Enrichment | FGFR3 | 2.07 |
| 207 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 2.07 |
| 208 | Neurofibromatosis, type i | Enrichment | SPRED1 | 2.07 |
| 209 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.05 |
| 210 | Nuchal bleb, familial | Enrichment | SOS1 | 2.05 |
| 211 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.05 |
| 212 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.05 |
| 213 | Keratoacanthoma | Enrichment | PIK3CA | 2.05 |
| 214 | Microcephaly | Enrichment | MAPK1, PTPN11 | 2.05 |
| 215 | Renal agenesis, bilateral | Enrichment | FGF20 | 2.03 |
| 216 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 2.03 |
| 217 | Gliosarcoma | Enrichment | FGFR1 | 2.03 |
| 218 | Giant cell glioblastoma | Enrichment | FGFR1 | 2.00 |
| 219 | Glioma | Enrichment | FGFR2 | 2.00 |
| 220 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.98 |
| 221 | Primary hyperaldosteronism | Enrichment | BRAF | 1.98 |
| 222 | Ventricular septal defect | Enrichment | BRAF | 1.98 |
| 223 | Hemifacial hyperplasia | Enrichment | FGFR3 | 1.97 |
| 224 | Melanoma | Enrichment | BRAF | 1.93 |
| 225 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.93 |
| 226 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.93 |
| 227 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.93 |
| 228 | Cerebrovascular disease | Enrichment | PIK3CA | 1.93 |
| 229 | Pilocytic astrocytoma | Enrichment | KRAS | 1.93 |
| 230 | Epidermolytic nevus | Enrichment | HRAS | 1.93 |
| 231 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.93 |
| 232 | Gingival fibromatosis | Enrichment | SOS1 | 1.93 |
| 233 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.89 |
| 234 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.89 |
| 235 | Pectus excavatum | Enrichment | PTPN11 | 1.89 |
| 236 | Tooth agenesis | Enrichment | FGFR1 | 1.89 |
| 237 | Epicanthus | Enrichment | PTPN11 | 1.85 |
| 238 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.85 |
| 239 | Septopreoptic holoprosencephaly | Enrichment | FGF8 | 1.85 |
| 240 | Male infertility with spermatogenesis disorder | Enrichment | SPRED1 | 1.85 |
| 241 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FGF8 | 1.85 |
| 242 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.83 |
| 243 | Hemimegalencephaly | Enrichment | PIK3CA | 1.83 |
| 244 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.83 |
| 245 | Alobar holoprosencephaly | Enrichment | FGF8 | 1.79 |
| 246 | Osteoporosis | Enrichment | SRC | 1.79 |
| 247 | Wilms tumor 1 | Enrichment | BRAF | 1.76 |
| 248 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.76 |
| 249 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.76 |
| 250 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.76 |
| 251 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.70 |
| 252 | Dandy-walker syndrome | Enrichment | BRAF | 1.70 |
| 253 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.69 |
| 254 | Heart, malformation of | Enrichment | MAPK1 | 1.68 |
| 255 | Patent foramen ovale | Enrichment | PTPN11 | 1.68 |
| 256 | Primary bone dysplasia | Enrichment | FGFR3 | 1.67 |
| 257 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 1.65 |
| 258 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.63 |
| 259 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.61 |
| 260 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.60 |
| 261 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.58 |
| 262 | Cowden syndrome | Enrichment | PIK3CA | 1.58 |
| 263 | Scoliosis | Enrichment | PTPN11 | 1.55 |
| 264 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.54 |
| 265 | Strabismus | Enrichment | PTPN11 | 1.50 |
| 266 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.46 |
| 267 | Meningioma | Enrichment | PIK3CA | 1.46 |
| 268 | Ovarian cancer | Enrichment | KRAS, PIK3CA | 1.45 |
| 269 | Hydrocephalus | Enrichment | FGFR2 | 1.43 |
| 270 | Aortic valve disease 1 | Enrichment | SOS1 | 1.42 |
| 271 | Protein-deficiency anemia | Enrichment | NRAS | 1.42 |
| 272 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.39 |
| 273 | Craniosynostosis | Enrichment | FGFR3 | 1.38 |
| 274 | Hepatoblastoma | Enrichment | FGFR3 | 1.36 |
| 275 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 1.30 |
| 276 | Endometrial cancer | Enrichment | FGFR2 | 1.29 |
| 277 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.20 |
| 278 | Connective tissue disease | Enrichment | FGFR3 | 1.18 |
| 279 | Pancreatic cancer | Enrichment | KRAS | 1.15 |
| 280 | Prostate cancer | Enrichment | PIK3CA | 1.09 |
| 281 | Dilated cardiomyopathy | Enrichment | BRAF | 1.04 |
| 282 | Autism spectrum disorder | Enrichment | PTPN11 | 0.92 |
| 283 | Hypertelorism | Enrichment | FGFR2 | 0.91 |
| 284 | Complex neurodevelopmental disorder | Enrichment | PPP2CA | 0.86 |
| 285 | Inherited cancer-predisposing syndrome | Enrichment | PTPN11 | 0.84 |
| 286 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.82 |
| 287 | Congenital nervous system abnormality | Enrichment | FGFR3 | 0.69 |
| 288 | Nervous system disease | Enrichment | FGFR3 | 0.69 |