| 1 | Bone development disease | Direct | | |
| 2 | Rasopathy | Enrichment | HRAS, KRAS, NRAS, PTPN11, SOS1 | 11.57 |
| 3 | Nevus, epidermal | Enrichment | FGFR3, HRAS, KRAS, NRAS, PIK3CA | 11.07 |
| 4 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS, PTPN11, SOS1 | 10.63 |
| 5 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS, PTPN11, SOS1 | 10.60 |
| 6 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, PTPN11, SOS1 | 10.46 |
| 7 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 10.11 |
| 8 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 9.08 |
| 9 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, PTPN11 | 7.06 |
| 10 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | Enrichment | FGF23, KL | 7.01 |
| 11 | Lung squamous cell carcinoma | Enrichment | FGFR3, KRAS, PIK3CA | 6.96 |
| 12 | Kallmann syndrome | Enrichment | FGF17, FGF8, FGFR1, FLRT3 | 6.72 |
| 13 | Bladder cancer | Enrichment | FGFR3, HRAS, KRAS, PIK3CA | 6.68 |
| 14 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 6.41 |
| 15 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 6.16 |
| 16 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 6.14 |
| 17 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGF17, FGF8, FGFR1 | 5.96 |
| 18 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 5.93 |
| 19 | Keratosis, seborrheic | Enrichment | FGFR3, PIK3CA | 5.78 |
| 20 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS, PTPN11 | 5.75 |
| 21 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1, KRAS | 5.64 |
| 22 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 5.64 |
| 23 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 5.63 |
| 24 | Spermatocytoma | Enrichment | FGFR3, HRAS | 5.30 |
| 25 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGF10, FGFR2 | 5.30 |
| 26 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 5.09 |
| 27 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 5.09 |
| 28 | Pilomyxoid astrocytoma | Enrichment | KRAS, NTRK2 | 5.09 |
| 29 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 5.09 |
| 30 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA | 5.05 |
| 31 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 4.96 |
| 32 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 4.90 |
| 33 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 4.90 |
| 34 | Holoprosencephaly | Enrichment | FGF8, FGFR1 | 4.89 |
| 35 | Colorectal cancer | Enrichment | NRAS, PIK3CA, PIK3R1, SRC | 4.74 |
| 36 | Holoprosencephaly 1 | Enrichment | FGF8, FGFR1 | 4.71 |
| 37 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 4.67 |
| 38 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 4.57 |
| 39 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 4.41 |
| 40 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 4.20 |
| 41 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FGF8, KLB, PTPN11 | 4.14 |
| 42 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 4.13 |
| 43 | Gastric cancer | Enrichment | FGFR2, KRAS, PIK3CA | 3.95 |
| 44 | Developmental and epileptic encephalopathy 58 | Enrichment | NTRK2 | 3.83 |
| 45 | Obesity, hyperphagia, and developmental delay | Enrichment | NTRK2 | 3.83 |
| 46 | Glaucoma 1, open angle, o | Enrichment | NTF4 | 3.83 |
| 47 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 3.83 |
| 48 | Microform holoprosencephaly | Enrichment | FGF8, FGFR1 | 3.81 |
| 49 | Lobar holoprosencephaly | Enrichment | FGF8, FGFR1 | 3.81 |
| 50 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 3.72 |
| 51 | Semilobar holoprosencephaly | Enrichment | FGF8, FGFR1 | 3.70 |
| 52 | Lung cancer susceptibility 3 | Enrichment | FGF10, KRAS | 3.69 |
| 53 | West syndrome | Enrichment | GRIN2B, NTRK2 | 3.67 |
| 54 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 3.66 |
| 55 | Trigonocephaly 1 | Enrichment | FGFR1 | 3.66 |
| 56 | Tumoral calcinosis, hyperphosphatemic, familial, 3 | Enrichment | KL | 3.66 |
| 57 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | Enrichment | FGF23 | 3.66 |
| 58 | Hartsfield syndrome | Enrichment | FGFR1 | 3.66 |
| 59 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 3.66 |
| 60 | Lung cancer | Enrichment | KRAS, PIK3CA | 3.53 |
| 61 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 3.53 |
| 62 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 3.52 |
| 63 | Breast cancer | Enrichment | KRAS, PIK3CA, SHC1 | 3.47 |
| 64 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | Enrichment | DOCK3 | 3.43 |
| 65 | Pfeiffer syndrome | Enrichment | FGFR1 | 3.35 |
| 66 | Jackson-weiss syndrome | Enrichment | FGFR1 | 3.35 |
| 67 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 3.35 |
| 68 | Lissencephaly 7 with cerebellar hypoplasia | Enrichment | CDK5 | 3.35 |
| 69 | Neurodevelopmental disorder with language delay and seizures | Enrichment | TIAM1 | 3.35 |
| 70 | Macrodactyly | Enrichment | PIK3CA | 3.29 |
| 71 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 3.29 |
| 72 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 3.29 |
| 73 | Cowden syndrome 5 | Enrichment | PIK3CA | 3.29 |
| 74 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 3.29 |
| 75 | Short syndrome | Enrichment | PIK3R1 | 3.29 |
| 76 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 3.29 |
| 77 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 3.29 |
| 78 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 3.29 |
| 79 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 3.29 |
| 80 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 3.29 |
| 81 | Hypospadias | Enrichment | PIK3CA | 3.29 |
| 82 | Rare venous malformation | Enrichment | PIK3CA | 3.29 |
| 83 | Diaphragmatic eventration | Enrichment | PIK3CA | 3.29 |
| 84 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 3.29 |
| 85 | Rare combined vascular malformation | Enrichment | PIK3CA | 3.29 |
| 86 | Cavernous lymphangioma | Enrichment | PIK3CA | 3.29 |
| 87 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 3.29 |
| 88 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 3.29 |
| 89 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 3.29 |
| 90 | Macrodactyly of toe | Enrichment | PIK3CA | 3.29 |
| 91 | Developmental and epileptic encephalopathy 27 | Enrichment | GRIN2B | 3.29 |
| 92 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | Enrichment | GRIN2B | 3.29 |
| 93 | Thrombocytopenia 6 | Enrichment | SRC | 3.29 |
| 94 | Grin2b-related neurodevelopmental disorder | Enrichment | GRIN2B | 3.29 |
| 95 | Hereditary breast carcinoma | Enrichment | KRAS, PIK3CA | 3.26 |
| 96 | Endometrial cancer | Enrichment | FGFR2, PIK3CA | 3.25 |
| 97 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 3.18 |
| 98 | Hypophosphatemic rickets, autosomal dominant | Enrichment | FGF23 | 3.18 |
| 99 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 3.18 |
| 100 | Oculoectodermal syndrome | Enrichment | KRAS | 3.18 |
| 101 | Noonan syndrome 4 | Enrichment | SOS1 | 3.18 |
| 102 | Melanosis, neurocutaneous | Enrichment | NRAS | 3.18 |
| 103 | Noonan syndrome 6 | Enrichment | NRAS | 3.18 |
| 104 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 3.18 |
| 105 | Congenital pulmonary airway malformation | Enrichment | KRAS | 3.18 |
| 106 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 3.18 |
| 107 | Neurocutaneous melanocytosis | Enrichment | NRAS | 3.18 |
| 108 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 3.18 |
| 109 | Metachondromatosis | Enrichment | PTPN11 | 3.09 |
| 110 | Leopard syndrome 1 | Enrichment | PTPN11 | 3.09 |
| 111 | Malignant astrocytoma | Enrichment | PTPN11 | 3.09 |
| 112 | Scoliosis | Enrichment | GRIN2B, PTPN11 | 3.06 |
| 113 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF | 3.05 |
| 114 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 3.02 |
| 115 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 3.02 |
| 116 | Apert syndrome | Enrichment | FGFR2 | 3.02 |
| 117 | Hypogonadotropic hypogonadism 20 with or without anosmia | Enrichment | FGF17 | 3.02 |
| 118 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 3.02 |
| 119 | Metacarpal 4-5 fusion | Enrichment | FGF16 | 3.02 |
| 120 | Familial isolated trichomegaly | Enrichment | FGF5 | 3.02 |
| 121 | Multiple synostoses syndrome 3 | Enrichment | FGF9 | 3.02 |
| 122 | Hypogonadotropic hypogonadism 6 with or without anosmia | Enrichment | FGF8 | 3.02 |
| 123 | Renal hypodysplasia/aplasia 2 | Enrichment | FGF20 | 3.02 |
| 124 | Short-rib thoracic dysplasia 22 without polydactyly | Enrichment | FGF4 | 3.02 |
| 125 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 3.02 |
| 126 | Hypochondroplasia | Enrichment | FGFR3 | 3.02 |
| 127 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 3.02 |
| 128 | Muenke syndrome | Enrichment | FGFR3 | 3.02 |
| 129 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 3.02 |
| 130 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 3.02 |
| 131 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 3.02 |
| 132 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 3.02 |
| 133 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 3.02 |
| 134 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 3.02 |
| 135 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 3.02 |
| 136 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.99 |
| 137 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 2.96 |
| 138 | Aplasia of lacrimal and salivary glands | Enrichment | FGF10 | 2.93 |
| 139 | Lacrimoauriculodentodigital syndrome 3 | Enrichment | FGF10 | 2.93 |
| 140 | Interstitial lung disease specific to childhood | Enrichment | FGF10 | 2.93 |
| 141 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.88 |
| 142 | Costello syndrome | Enrichment | HRAS | 2.88 |
| 143 | Pulmonic stenosis | Enrichment | SOS1 | 2.88 |
| 144 | Wooly hair nevus | Enrichment | HRAS | 2.88 |
| 145 | Congenital central hypoventilation syndrome | Enrichment | BDNF | 2.88 |
| 146 | Complex neurodevelopmental disorder | Enrichment | DOCK3, GRIN2B, TIAM1 | 2.83 |
| 147 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.81 |
| 148 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.81 |
| 149 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.81 |
| 150 | Keratoacanthoma | Enrichment | PIK3CA | 2.81 |
| 151 | Hypophosphatemic rickets | Enrichment | FGF23 | 2.81 |
| 152 | Werner syndrome | Enrichment | PTPN11 | 2.79 |
| 153 | Trichomegaly | Enrichment | FGF5 | 2.72 |
| 154 | Aural atresia, congenital | Enrichment | FGFR2 | 2.72 |
| 155 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.72 |
| 156 | Split hand-foot malformation | Enrichment | FGFR2 | 2.72 |
| 157 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.72 |
| 158 | Cervical cancer | Enrichment | FGFR3 | 2.72 |
| 159 | Cervix carcinoma | Enrichment | FGFR3 | 2.72 |
| 160 | Nuchal bleb, familial | Enrichment | SOS1 | 2.70 |
| 161 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.70 |
| 162 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 2.70 |
| 163 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.69 |
| 164 | Cerebrovascular disease | Enrichment | PIK3CA | 2.69 |
| 165 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.69 |
| 166 | Astigmatism | Enrichment | GRIN2B | 2.69 |
| 167 | Otodental dysplasia | Enrichment | FGF3 | 2.63 |
| 168 | Pulmonary hypoplasia, primary | Enrichment | FGF10 | 2.63 |
| 169 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | Enrichment | FGF3 | 2.63 |
| 170 | Oculootodental syndrome | Enrichment | FGF3 | 2.63 |
| 171 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.61 |
| 172 | Myeloma, multiple | Enrichment | FGFR3, KRAS | 2.61 |
| 173 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.59 |
| 174 | Hemimegalencephaly | Enrichment | PIK3CA | 2.59 |
| 175 | Sleep disorder | Enrichment | GRIN2B | 2.59 |
| 176 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.58 |
| 177 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.58 |
| 178 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.58 |
| 179 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.58 |
| 180 | Pilocytic astrocytoma | Enrichment | KRAS | 2.58 |
| 181 | Epidermolytic nevus | Enrichment | HRAS | 2.58 |
| 182 | Gingival fibromatosis | Enrichment | SOS1 | 2.58 |
| 183 | Septooptic dysplasia | Enrichment | FGFR1 | 2.58 |
| 184 | Crouzon syndrome | Enrichment | FGFR2 | 2.54 |
| 185 | Achondroplasia | Enrichment | FGFR3 | 2.54 |
| 186 | Larsen syndrome | Enrichment | FGFR3 | 2.54 |
| 187 | Hamartoma | Enrichment | FGFR3 | 2.54 |
| 188 | Testicular germ cell cancer | Enrichment | FGFR3 | 2.54 |
| 189 | Testicular cancer | Enrichment | FGFR3 | 2.54 |
| 190 | Ovarian cancer | Enrichment | KRAS, PIK3CA | 2.54 |
| 191 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 2.51 |
| 192 | Cowden syndrome 1 | Enrichment | PIK3CA | 2.51 |
| 193 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 2.51 |
| 194 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 2.51 |
| 195 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 2.49 |
| 196 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 2.49 |
| 197 | Hypertelorism | Enrichment | FGFR2, PIK3CA | 2.46 |
| 198 | Thrombocytopenia | Enrichment | PTPN11, SRC | 2.46 |
| 199 | Gliosarcoma | Enrichment | FGFR1 | 2.45 |
| 200 | Overgrowth syndrome | Enrichment | PIK3R1 | 2.44 |
| 201 | Myelofibrosis | Enrichment | SRC | 2.44 |
| 202 | Giant cell glioblastoma | Enrichment | FGFR1 | 2.43 |
| 203 | Saethre-chotzen syndrome | Enrichment | FGFR2 | 2.42 |
| 204 | Multiple synostoses syndrome | Enrichment | FGF9 | 2.42 |
| 205 | Glioma | Enrichment | FGFR2 | 2.42 |
| 206 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 2.42 |
| 207 | Lymphoma | Enrichment | PTPN11 | 2.39 |
| 208 | Spastic paraplegia, optic atrophy, and neuropathy | Enrichment | FLRT1 | 2.34 |
| 209 | Hypogonadotropic hypogonadism 21 with or without anosmia | Enrichment | FLRT3 | 2.34 |
| 210 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 2.33 |
| 211 | Cowden syndrome | Enrichment | PIK3CA | 2.33 |
| 212 | Hemifacial hyperplasia | Enrichment | FGFR2 | 2.32 |
| 213 | Patent ductus arteriosus | Enrichment | PTPN11 | 2.31 |
| 214 | Tooth agenesis | Enrichment | FGFR1 | 2.31 |
| 215 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 2.29 |
| 216 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 2.24 |
| 217 | Testicular germ cell tumor | Enrichment | FGFR3 | 2.24 |
| 218 | 46,xy disorder of sex development | Enrichment | FGFR3 | 2.24 |
| 219 | Meningioma | Enrichment | PIK3CA | 2.21 |
| 220 | Osteoporosis | Enrichment | SRC | 2.14 |
| 221 | Body mass index quantitative trait locus 11 | Enrichment | BDNF | 2.13 |
| 222 | Undetermined early-onset epileptic encephalopathy | Enrichment | NTRK2 | 2.08 |
| 223 | Renal agenesis, bilateral | Enrichment | FGF20 | 2.07 |
| 224 | Aortic valve disease 1 | Enrichment | SOS1 | 2.07 |
| 225 | Protein-deficiency anemia | Enrichment | NRAS | 2.07 |
| 226 | Pectus excavatum | Enrichment | PTPN11 | 2.05 |
| 227 | Specific learning disability | Enrichment | PTPN11 | 2.05 |
| 228 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 2.03 |
| 229 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 2.02 |
| 230 | Primary bone dysplasia | Enrichment | FGFR3 | 2.02 |
| 231 | Epicanthus | Enrichment | PTPN11 | 2.01 |
| 232 | Congenital long qt syndrome | Enrichment | PTPN11 | 2.01 |
| 233 | Craniosynostosis | Enrichment | GRIN2B | 1.99 |
| 234 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.98 |
| 235 | Orofacial cleft 1 | Enrichment | FGF10 | 1.98 |
| 236 | Rhabdomyosarcoma | Enrichment | HRAS | 1.98 |
| 237 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.95 |
| 238 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.94 |
| 239 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.90 |
| 240 | Hydrocephalus | Enrichment | FGFR2 | 1.85 |
| 241 | Septopreoptic holoprosencephaly | Enrichment | FGF8 | 1.85 |
| 242 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FGF8 | 1.85 |
| 243 | Patent foramen ovale | Enrichment | PTPN11 | 1.84 |
| 244 | Prostate cancer | Enrichment | PIK3CA | 1.83 |
| 245 | Alobar holoprosencephaly | Enrichment | FGF8 | 1.79 |
| 246 | Pancreatic cancer | Enrichment | KRAS | 1.78 |
| 247 | Autism spectrum disorder | Enrichment | GRIN2B, PTPN11 | 1.77 |
| 248 | Hepatoblastoma | Enrichment | FGFR3 | 1.70 |
| 249 | Cerebral palsy | Enrichment | GRIN2B | 1.70 |
| 250 | Epilepsy | Enrichment | GRIN2B | 1.69 |
| 251 | Microcephaly | Enrichment | GRIN2B, PTPN11 | 1.67 |
| 252 | Strabismus | Enrichment | PTPN11 | 1.66 |
| 253 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.62 |
| 254 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GRIN2B | 1.59 |
| 255 | Connective tissue disease | Enrichment | FGFR3 | 1.52 |
| 256 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 1.46 |
| 257 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 1.44 |
| 258 | Congenital nervous system abnormality | Enrichment | FGFR3 | 1.01 |
| 259 | Nervous system disease | Enrichment | FGFR3 | 1.01 |
| 260 | Inherited cancer-predisposing syndrome | Enrichment | PTPN11 | 0.99 |