| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, CBL, MAP2K1, PTPN11, RAF1 | 8.27 |
| 2 | Colorectal cancer | Enrichment | AKT1, BRAF, CTNNA1, CTNNB1, PIK3CA, PIK3R1, PTPRJ, SRC | 8.22 |
| 3 | Noonan syndrome 1 | Enrichment | BRAF, CBL, MAP2K1, PTPN11, RAF1 | 7.24 |
| 4 | Rasopathy | Enrichment | BRAF, CBL, MAP2K1, PTPN11, RAF1 | 6.95 |
| 5 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, CDC42, PTPN11 | 6.42 |
| 6 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, PTPN11, RAF1 | 6.42 |
| 7 | Gallbladder cancer | Enrichment | BRAF, CTNNB1, PIK3CA | 5.48 |
| 8 | Lung non-small cell carcinoma | Enrichment | BRAF, MAP2K1, PIK3CA | 4.81 |
| 9 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 4.20 |
| 10 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.20 |
| 11 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, MAP2K1 | 3.90 |
| 12 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, MAP2K1 | 3.90 |
| 13 | Craniopharyngioma | Enrichment | BRAF, CTNNB1 | 3.90 |
| 14 | Pre-eclampsia | Enrichment | FLT1, NOS3 | 3.68 |
| 15 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.50 |
| 16 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.50 |
| 17 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 3.36 |
| 18 | Noonan syndrome 3 | Enrichment | PTPN11, RAF1 | 3.36 |
| 19 | Pilomyxoid astrocytoma | Enrichment | BRAF, RAF1 | 3.36 |
| 20 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, RAF1 | 3.23 |
| 21 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA | 3.13 |
| 22 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 3.13 |
| 23 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.13 |
| 24 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA | 3.03 |
| 25 | Juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 2.87 |
| 26 | Meningioma | Enrichment | AKT1, PIK3CA | 2.87 |
| 27 | Lip and oral cavity carcinoma | Enrichment | BRAF, PIK3CA | 2.87 |
| 28 | Thrombocytopenia | Enrichment | ITGB3, PTPN11, SRC | 2.85 |
| 29 | Hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 2.34 |
| 30 | Macrodactyly | Enrichment | PIK3CA | 2.33 |
| 31 | Proteus syndrome | Enrichment | AKT1 | 2.33 |
| 32 | Metachondromatosis | Enrichment | PTPN11 | 2.33 |
| 33 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.33 |
| 34 | Noonan syndrome 5 | Enrichment | RAF1 | 2.33 |
| 35 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.33 |
| 36 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.33 |
| 37 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.33 |
| 38 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.33 |
| 39 | Noonan syndrome 7 | Enrichment | BRAF | 2.33 |
| 40 | Leopard syndrome 3 | Enrichment | BRAF | 2.33 |
| 41 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.33 |
| 42 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.33 |
| 43 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.33 |
| 44 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.33 |
| 45 | Muscular dystrophy-dystroglycanopathy , type a, 9 | Enrichment | DAG1 | 2.33 |
| 46 | Charcot-marie-tooth disease, dominant intermediate b | Enrichment | DNM2 | 2.33 |
| 47 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.33 |
| 48 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.33 |
| 49 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.33 |
| 50 | Knobloch syndrome 2 | Enrichment | PAK2 | 2.33 |
| 51 | Short syndrome | Enrichment | PIK3R1 | 2.33 |
| 52 | Neurodevelopmental, jaw, eye, and digital syndrome | Enrichment | FBXW11 | 2.33 |
| 53 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.33 |
| 54 | Angioedema, hereditary, 7 | Enrichment | MYOF | 2.33 |
| 55 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.33 |
| 56 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.33 |
| 57 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.33 |
| 58 | Lymphangioma | Enrichment | BRAF | 2.33 |
| 59 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.33 |
| 60 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.33 |
| 61 | Phace association | Enrichment | BRAF | 2.33 |
| 62 | Melorheostosis | Enrichment | MAP2K1 | 2.33 |
| 63 | Leopard syndrome 2 | Enrichment | RAF1 | 2.33 |
| 64 | Lethal congenital contracture syndrome 5 | Enrichment | DNM2 | 2.33 |
| 65 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.33 |
| 66 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.33 |
| 67 | Cowden syndrome 6 | Enrichment | AKT1 | 2.33 |
| 68 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.33 |
| 69 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.33 |
| 70 | Muscular dystrophy-dystroglycanopathy , type c, 9 | Enrichment | DAG1 | 2.33 |
| 71 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.33 |
| 72 | Thrombocytopenia 6 | Enrichment | SRC | 2.33 |
| 73 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.33 |
| 74 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.33 |
| 75 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.33 |
| 76 | Trigonitis | Enrichment | RAF1 | 2.33 |
| 77 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.33 |
| 78 | Tufted angioma of skin | Enrichment | KDR | 2.33 |
| 79 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.33 |
| 80 | Autosomal dominant charcot-marie-tooth disease type 2m | Enrichment | DNM2 | 2.33 |
| 81 | Hypospadias | Enrichment | PIK3CA | 2.33 |
| 82 | Thrombocytopenia 10 | Enrichment | PTPRJ | 2.33 |
| 83 | Rare venous malformation | Enrichment | PIK3CA | 2.33 |
| 84 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.33 |
| 85 | Vegetative pyoderma gangrenosum | Enrichment | PTPN6 | 2.33 |
| 86 | Bullous pyoderma gangrenosum | Enrichment | PTPN6 | 2.33 |
| 87 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.33 |
| 88 | Pustular pyoderma gangrenosum | Enrichment | PTPN6 | 2.33 |
| 89 | Nocarh syndrome | Enrichment | CDC42 | 2.33 |
| 90 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.33 |
| 91 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.33 |
| 92 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.33 |
| 93 | Ganglioglioma | Enrichment | BRAF | 2.33 |
| 94 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.33 |
| 95 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.33 |
| 96 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.33 |
| 97 | Phace syndrome | Enrichment | BRAF | 2.33 |
| 98 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | Enrichment | DAG1 | 2.33 |
| 99 | Classic hairy cell leukemia | Enrichment | BRAF | 2.33 |
| 100 | Classic pyoderma gangrenosum | Enrichment | PTPN6 | 2.33 |
| 101 | Silver-russell syndrome due to maternal uniparental disomy of chromosome 7 | Enrichment | GRB10 | 2.33 |
| 102 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.33 |
| 103 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.33 |
| 104 | Macrodactyly of toe | Enrichment | PIK3CA | 2.33 |
| 105 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.33 |
| 106 | Malignant astrocytoma | Enrichment | PTPN11 | 2.33 |
| 107 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1, VCL | 2.22 |
| 108 | Bladder cancer | Enrichment | CTNNB1, PIK3CA | 2.10 |
| 109 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.03 |
| 110 | Ovarian germ cell cancer | Enrichment | CBL | 2.03 |
| 111 | Pulmonic stenosis | Enrichment | BRAF | 2.03 |
| 112 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.03 |
| 113 | Angioma, tufted | Enrichment | KDR | 2.03 |
| 114 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.03 |
| 115 | Periventricular nodular heterotopia 8 | Enrichment | ARF1 | 2.03 |
| 116 | Werner syndrome | Enrichment | PTPN11 | 2.03 |
| 117 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.03 |
| 118 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.03 |
| 119 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.03 |
| 120 | Immune system disease | Enrichment | CDC42 | 2.03 |
| 121 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.03 |
| 122 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.03 |
| 123 | Teratoma | Enrichment | CTNNB1 | 2.03 |
| 124 | Lung cancer | Enrichment | BRAF, PIK3CA | 2.02 |
| 125 | Ovarian cancer | Enrichment | AKT1, CTNNB1, PIK3CA | 1.94 |
| 126 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.86 |
| 127 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.86 |
| 128 | Ataxia-telangiectasia | Enrichment | BRAF | 1.86 |
| 129 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.86 |
| 130 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.86 |
| 131 | Myopathy, centronuclear, x-linked | Enrichment | DNM2 | 1.86 |
| 132 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.86 |
| 133 | Neutrophilic dermatosis, acute febrile | Enrichment | PTPN6 | 1.86 |
| 134 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.86 |
| 135 | Anus, imperforate | Enrichment | CTNNB1 | 1.86 |
| 136 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.86 |
| 137 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.86 |
| 138 | Desmoid tumor | Enrichment | CTNNB1 | 1.86 |
| 139 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.86 |
| 140 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 1.86 |
| 141 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.86 |
| 142 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.86 |
| 143 | Keratoacanthoma | Enrichment | PIK3CA | 1.86 |
| 144 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 1.75 |
| 145 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CTNNA1 | 1.73 |
| 146 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.73 |
| 147 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 1.73 |
| 148 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.73 |
| 149 | Pilomatrixoma | Enrichment | CTNNB1 | 1.73 |
| 150 | Alazami syndrome | Enrichment | CTNNB1 | 1.73 |
| 151 | Cerebrovascular disease | Enrichment | PIK3CA | 1.73 |
| 152 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.73 |
| 153 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.73 |
| 154 | Knobloch syndrome | Enrichment | PAK2 | 1.73 |
| 155 | Hereditary angioedema with normal c1inh not related to f12 or plg variant | Enrichment | MYOF | 1.73 |
| 156 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.64 |
| 157 | Alzheimer disease 2 | Enrichment | NOS3 | 1.64 |
| 158 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.64 |
| 159 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.64 |
| 160 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.64 |
| 161 | Lymphoma | Enrichment | PTPN11 | 1.64 |
| 162 | Myeloproliferative neoplasm | Enrichment | CBL | 1.64 |
| 163 | Hemimegalencephaly | Enrichment | PIK3CA | 1.64 |
| 164 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.64 |
| 165 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1 | 1.64 |
| 166 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1, VCL | 1.60 |
| 167 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.56 |
| 168 | Myopathy, centronuclear, 1 | Enrichment | DNM2 | 1.56 |
| 169 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.56 |
| 170 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.56 |
| 171 | Wilms tumor 5 | Enrichment | BRAF | 1.56 |
| 172 | Hemangioma, capillary infantile | Enrichment | KDR | 1.56 |
| 173 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.56 |
| 174 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.56 |
| 175 | Limited scleroderma | Enrichment | CAV1 | 1.56 |
| 176 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.56 |
| 177 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.56 |
| 178 | Primary ovarian insufficiency | Enrichment | KDR, NOS3 | 1.51 |
| 179 | Nevus, epidermal | Enrichment | PIK3CA | 1.49 |
| 180 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF | 1.49 |
| 181 | Myelofibrosis | Enrichment | SRC | 1.49 |
| 182 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.49 |
| 183 | Follicular thyroid carcinoma | Enrichment | BRAF | 1.49 |
| 184 | Oligoarticular juvenile idiopathic arthritis | Enrichment | PTPN2 | 1.49 |
| 185 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.49 |
| 186 | Rheumatoid factor-negative juvenile idiopathic arthritis | Enrichment | PTPN2 | 1.49 |
| 187 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.44 |
| 188 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.44 |
| 189 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.39 |
| 190 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.39 |
| 191 | Primary hyperaldosteronism | Enrichment | BRAF | 1.39 |
| 192 | Ventricular septal defect | Enrichment | BRAF | 1.39 |
| 193 | Stroke, ischemic | Enrichment | NOS3 | 1.34 |
| 194 | Melanoma | Enrichment | BRAF | 1.34 |
| 195 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.34 |
| 196 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.34 |
| 197 | Breast cancer | Enrichment | AKT1, PIK3CA | 1.32 |
| 198 | Pectus excavatum | Enrichment | PTPN11 | 1.30 |
| 199 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.30 |
| 200 | Specific learning disability | Enrichment | PTPN11 | 1.30 |
| 201 | Epicanthus | Enrichment | PTPN11 | 1.26 |
| 202 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.26 |
| 203 | Osteoporosis | Enrichment | SRC | 1.20 |
| 204 | Medulloblastoma | Enrichment | CTNNB1 | 1.20 |
| 205 | Lung cancer susceptibility 3 | Enrichment | BRAF | 1.20 |
| 206 | Periventricular nodular heterotopia | Enrichment | ARF1 | 1.20 |
| 207 | Walker-warburg syndrome | Enrichment | DAG1 | 1.20 |
| 208 | Wilms tumor 1 | Enrichment | BRAF | 1.17 |
| 209 | Lynch syndrome | Enrichment | PIK3CA | 1.17 |
| 210 | Creatine phosphokinase, elevated serum | Enrichment | DAG1 | 1.14 |
| 211 | Isolated elevated serum creatine phosphokinase levels | Enrichment | DAG1 | 1.14 |
| 212 | Rhabdomyosarcoma | Enrichment | CBL | 1.14 |
| 213 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 1.12 |
| 214 | Hypertension, essential | Enrichment | NOS3 | 1.12 |
| 215 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.12 |
| 216 | Dandy-walker syndrome | Enrichment | BRAF | 1.12 |
| 217 | Polycystic liver disease | Enrichment | CTNNB1 | 1.12 |
| 218 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.12 |
| 219 | Patent foramen ovale | Enrichment | PTPN11 | 1.09 |
| 220 | Arteriovenous malformations of the brain | Enrichment | BRAF | 1.07 |
| 221 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 1.07 |
| 222 | Craniosynostosis | Enrichment | CTNNA1 | 1.05 |
| 223 | Autism spectrum disorder | Enrichment | MAP2K1, PTPN11 | 1.04 |
| 224 | Endometrial cancer | Enrichment | PIK3CA | 1.03 |
| 225 | Centronuclear myopathy | Enrichment | DNM2 | 1.03 |
| 226 | Hepatoblastoma | Enrichment | CTNNB1 | 1.03 |
| 227 | Myocardial infarction | Enrichment | ITGB3 | 1.01 |
| 228 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.98 |
| 229 | Scoliosis | Enrichment | PTPN11 | 0.98 |
| 230 | Microcephaly | Enrichment | CTNNB1, PTPN11 | 0.95 |
| 231 | Tetralogy of fallot | Enrichment | KDR | 0.94 |
| 232 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 0.94 |
| 233 | Strabismus | Enrichment | PTPN11 | 0.93 |
| 234 | Inherited cancer-predisposing syndrome | Enrichment | CTNNA1, PTPN11 | 0.90 |
| 235 | Prostate cancer | Enrichment | PIK3CA | 0.90 |
| 236 | Severe covid-19 | Enrichment | ITGAV | 0.90 |
| 237 | Differentiated thyroid carcinoma | Enrichment | BRAF | 0.90 |
| 238 | Long qt syndrome 1 | Enrichment | PTPN11 | 0.88 |
| 239 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 0.87 |
| 240 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.85 |
| 241 | Left ventricular noncompaction | Enrichment | RAF1 | 0.82 |
| 242 | Myopathy | Enrichment | DNM2 | 0.77 |
| 243 | Charcot-marie-tooth disease | Enrichment | DNM2 | 0.76 |
| 244 | Gastric cancer | Enrichment | PIK3CA | 0.74 |
| 245 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.74 |
| 246 | Hypertelorism | Enrichment | PIK3CA | 0.67 |
| 247 | Hereditary breast ovarian cancer syndrome | Enrichment | CTNNA1 | 0.65 |
| 248 | Myeloma, multiple | Enrichment | BRAF | 0.64 |
| 249 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.64 |
| 250 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.41 |
| 251 | Nervous system disease | Enrichment | CTNNB1 | 0.41 |
| 252 | Complex neurodevelopmental disorder | Enrichment | FBXW11 | 0.36 |
| 253 | Hereditary retinal dystrophy | Enrichment | CTNNA1 | 0.13 |
| 254 | Fundus dystrophy | Enrichment | CTNNA1 | 0.13 |