| 1 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2 | 10.97 |
| 2 | Rasopathy | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2 | 10.43 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 8.64 |
| 4 | Colorectal cancer | Enrichment | AKT1, APC, CDH1, CTNNB1, FZD3, NRAS, PIK3R1, SRC | 5.93 |
| 5 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, MAP2K1, NRAS | 5.69 |
| 6 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 5.54 |
| 7 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS, MAP2K1, MAP2K2 | 5.54 |
| 8 | Cardiofaciocutaneous syndrome | Enrichment | KRAS, MAP2K1, MAP2K2 | 5.54 |
| 9 | Robinow syndrome, autosomal dominant 2 | Enrichment | CHN1, DVL1, FZD2 | 5.14 |
| 10 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 4.61 |
| 11 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1, RASA1 | 4.61 |
| 12 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1 | 4.61 |
| 13 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS, RAF1 | 4.40 |
| 14 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, RASA1 | 4.23 |
| 15 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.09 |
| 16 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG, NFKBIA | 4.09 |
| 17 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, RASA1 | 4.08 |
| 18 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, RRAS | 3.82 |
| 19 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 3.61 |
| 20 | Langerhans cell histiocytosis | Enrichment | MAP2K1, NRAS | 3.61 |
| 21 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 3.61 |
| 22 | Desmoid tumor | Enrichment | APC, CTNNB1 | 3.61 |
| 23 | Ovarian cancer | Enrichment | AKT1, APC, CDH1, CTNNB1, KRAS, RRAS2 | 3.51 |
| 24 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, KRAS | 3.32 |
| 25 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1, FZD2 | 3.32 |
| 26 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3R2 | 3.32 |
| 27 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.32 |
| 28 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.32 |
| 29 | Craniopharyngioma | Enrichment | APC, CTNNB1 | 3.32 |
| 30 | Autosomal dominant robinow syndrome | Enrichment | DVL1, FZD2 | 3.32 |
| 31 | Breast cancer | Enrichment | AKT1, APC, CDH1, JUN, KRAS | 3.23 |
| 32 | Hereditary breast carcinoma | Enrichment | AKT1, APC, CDH1, KRAS | 3.18 |
| 33 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, FZD4 | 3.10 |
| 34 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1, FZD2 | 3.10 |
| 35 | Hepatocellular carcinoma | Enrichment | APC, AXIN1, CTNNB1 | 3.01 |
| 36 | Autosomal recessive robinow syndrome | Enrichment | DVL1, FZD2 | 2.92 |
| 37 | Breast adenocarcinoma | Enrichment | AKT1, KRAS | 2.92 |
| 38 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 2.78 |
| 39 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 2.78 |
| 40 | Gallbladder cancer | Enrichment | CTNNB1, KRAS | 2.78 |
| 41 | Pilomyxoid astrocytoma | Enrichment | KRAS, RAF1 | 2.78 |
| 42 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 2.78 |
| 43 | Exudative vitreoretinopathy | Enrichment | CTNNB1, FZD4 | 2.66 |
| 44 | Bladder cancer | Enrichment | CTNNB1, HRAS, KRAS | 2.65 |
| 45 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 2.65 |
| 46 | Non-immune hydrops fetalis | Enrichment | FZD6, HRAS, KRAS | 2.57 |
| 47 | Adult hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1 | 2.55 |
| 48 | Gastric cancer | Enrichment | APC, CDH1, KRAS | 2.16 |
| 49 | Osteoporosis | Enrichment | SRC, WNT1 | 2.16 |
| 50 | Medulloblastoma | Enrichment | APC, CTNNB1 | 2.16 |
| 51 | Proteus syndrome | Enrichment | AKT1 | 2.04 |
| 52 | Nail disorder, nonsyndromic congenital, 1 | Enrichment | FZD6 | 2.04 |
| 53 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.04 |
| 54 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | Enrichment | CDH3 | 2.04 |
| 55 | Elsahy-waters syndrome | Enrichment | CDH11 | 2.04 |
| 56 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.04 |
| 57 | Oculoectodermal syndrome | Enrichment | KRAS | 2.04 |
| 58 | Incontinentia pigmenti | Enrichment | IKBKG | 2.04 |
| 59 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.04 |
| 60 | Noonan syndrome 5 | Enrichment | RAF1 | 2.04 |
| 61 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 2.04 |
| 62 | Intellectual developmental disorder, autosomal dominant 3 | Enrichment | CDH15 | 2.04 |
| 63 | Mitral valve prolapse 2 | Enrichment | DCHS1 | 2.04 |
| 64 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.04 |
| 65 | Prothrombin deficiency, congenital | Enrichment | F2 | 2.04 |
| 66 | Omodysplasia 2 | Enrichment | FZD2 | 2.04 |
| 67 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.04 |
| 68 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.04 |
| 69 | Lichtenstein-knorr syndrome | Enrichment | SLC9A1 | 2.04 |
| 70 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.04 |
| 71 | Caudal duplication anomaly | Enrichment | AXIN1 | 2.04 |
| 72 | Noonan syndrome 6 | Enrichment | NRAS | 2.04 |
| 73 | Fetal encasement syndrome | Enrichment | CHUK | 2.04 |
| 74 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.04 |
| 75 | Transient erythroblastopenia of childhood | Enrichment | TEC | 2.04 |
| 76 | Immunodeficiency 62 | Enrichment | ARHGEF1 | 2.04 |
| 77 | Noonan syndrome 11 | Enrichment | MRAS | 2.04 |
| 78 | Immunodeficiency 15b | Enrichment | IKBKB | 2.04 |
| 79 | Teebi hypertelorism syndrome 2 | Enrichment | CDH11 | 2.04 |
| 80 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.04 |
| 81 | Immunodeficiency 15a | Enrichment | IKBKB | 2.04 |
| 82 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 2.04 |
| 83 | Short syndrome | Enrichment | PIK3R1 | 2.04 |
| 84 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.04 |
| 85 | Bleeding disorder, platelet-type, 13 | Enrichment | TBXA2R | 2.04 |
| 86 | Isolated growth hormone deficiency type iii | Enrichment | BTK | 2.04 |
| 87 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.04 |
| 88 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 2.04 |
| 89 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 2.04 |
| 90 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.04 |
| 91 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.04 |
| 92 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.04 |
| 93 | Hypotrichosis | Enrichment | CDH3 | 2.04 |
| 94 | Coronary artery disease, autosomal dominant, 1 | Enrichment | MEF2A | 2.04 |
| 95 | Melorheostosis | Enrichment | MAP2K1 | 2.04 |
| 96 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.04 |
| 97 | Leopard syndrome 2 | Enrichment | RAF1 | 2.04 |
| 98 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.04 |
| 99 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.04 |
| 100 | Cowden syndrome 6 | Enrichment | AKT1 | 2.04 |
| 101 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.04 |
| 102 | Microphthalmia/coloboma 11 | Enrichment | FZD5 | 2.04 |
| 103 | Pregnancy loss, recurrent 2 | Enrichment | F2 | 2.04 |
| 104 | Thrombocytopenia 6 | Enrichment | SRC | 2.04 |
| 105 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.04 |
| 106 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.04 |
| 107 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.04 |
| 108 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.04 |
| 109 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 2.04 |
| 110 | Trigonitis | Enrichment | RAF1 | 2.04 |
| 111 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 2.04 |
| 112 | Tsh producing pituitary tumor | Enrichment | CDH23 | 2.04 |
| 113 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.04 |
| 114 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.04 |
| 115 | Capillary hemangioma | Enrichment | AKT3 | 2.04 |
| 116 | Prothrombin deficiency | Enrichment | F2 | 2.04 |
| 117 | Breast lobular carcinoma | Enrichment | CDH1 | 2.04 |
| 118 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 2.04 |
| 119 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.04 |
| 120 | Familial adenomatous polyposis | Enrichment | APC | 2.04 |
| 121 | Gorham's disease | Enrichment | RASA1 | 2.04 |
| 122 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 2.04 |
| 123 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 2.04 |
| 124 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 2.04 |
| 125 | Nocarh syndrome | Enrichment | CDC42 | 2.04 |
| 126 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.04 |
| 127 | Bleeding diathesis due to thromboxane synthesis deficiency | Enrichment | TBXA2R | 2.04 |
| 128 | Gardner syndrome | Enrichment | APC | 2.04 |
| 129 | 5q22 microdeletion syndrome | Enrichment | APC | 2.04 |
| 130 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.04 |
| 131 | Mef2c-related disorder | Enrichment | MEF2C | 2.04 |
| 132 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.04 |
| 133 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.04 |
| 134 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 2.04 |
| 135 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.04 |
| 136 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.04 |
| 137 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.04 |
| 138 | Arteriovenous malformations of the brain | Enrichment | CDH2, KRAS | 1.90 |
| 139 | Hepatoblastoma | Enrichment | APC, CTNNB1 | 1.82 |
| 140 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 1.74 |
| 141 | Mitral valve prolapse 1 | Enrichment | DCHS1 | 1.74 |
| 142 | Scoliosis, isolated 1 | Enrichment | MAPK7 | 1.74 |
| 143 | Costello syndrome | Enrichment | HRAS | 1.74 |
| 144 | Bladder exstrophy and epispadias complex | Enrichment | WNT3 | 1.74 |
| 145 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.74 |
| 146 | Van maldergem syndrome 1 | Enrichment | DCHS1 | 1.74 |
| 147 | Hypotrichosis, congenital, with juvenile macular dystrophy | Enrichment | CDH3 | 1.74 |
| 148 | Immunodeficiency 33 | Enrichment | IKBKG | 1.74 |
| 149 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 1.74 |
| 150 | Isolated growth hormone deficiency, type iii, with agammaglobulinemia | Enrichment | BTK | 1.74 |
| 151 | Tetraamelia syndrome 1 | Enrichment | WNT3 | 1.74 |
| 152 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 1.74 |
| 153 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 1.74 |
| 154 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.74 |
| 155 | Duane retraction syndrome 2 | Enrichment | CHN1 | 1.74 |
| 156 | Robinow syndrome, autosomal dominant 3 | Enrichment | FZD2 | 1.74 |
| 157 | Deafness, autosomal recessive 84a | Enrichment | CDH23 | 1.74 |
| 158 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.74 |
| 159 | Diarrhea 8, secretory sodium, congenital | Enrichment | SLC9A3 | 1.74 |
| 160 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.74 |
| 161 | Agammaglobulinemia, x-linked | Enrichment | BTK | 1.74 |
| 162 | Noonan syndrome 12 | Enrichment | RRAS2 | 1.74 |
| 163 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.74 |
| 164 | Combined saposin deficiency | Enrichment | CDH23 | 1.74 |
| 165 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.74 |
| 166 | Periampullary adenoma | Enrichment | APC | 1.74 |
| 167 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 1.74 |
| 168 | Immune system disease | Enrichment | CDC42 | 1.74 |
| 169 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.74 |
| 170 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 1.74 |
| 171 | Combined psap deficiency | Enrichment | CDH23 | 1.74 |
| 172 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 | Enrichment | MYL9 | 1.74 |
| 173 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.74 |
| 174 | Teratoma | Enrichment | CTNNB1 | 1.74 |
| 175 | Bladder exstrophy-epispadias-cloacal exstrophy complex | Enrichment | WNT3 | 1.74 |
| 176 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.74 |
| 177 | Familial isolated pituitary adenoma | Enrichment | CDH23 | 1.74 |
| 178 | Tafro syndrome | Enrichment | MAP2K2 | 1.74 |
| 179 | Wooly hair nevus | Enrichment | HRAS | 1.74 |
| 180 | Hydrops fetalis, nonimmune | Enrichment | FZD6, HRAS | 1.64 |
| 181 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | Enrichment | SLC9A3 | 1.57 |
| 182 | Agammaglobulinemia 1, autosomal recessive | Enrichment | BTK | 1.57 |
| 183 | Osteoporosis, juvenile | Enrichment | WNT1 | 1.57 |
| 184 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 1.57 |
| 185 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.57 |
| 186 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.57 |
| 187 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.57 |
| 188 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.57 |
| 189 | Anus, imperforate | Enrichment | CTNNB1 | 1.57 |
| 190 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.57 |
| 191 | Agammaglobulinemia 1 | Enrichment | BTK | 1.57 |
| 192 | Wieacker-wolff syndrome | Enrichment | RASA1 | 1.57 |
| 193 | Nail disease | Enrichment | FZD6 | 1.57 |
| 194 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.57 |
| 195 | Duane retraction syndrome | Enrichment | CHN1 | 1.57 |
| 196 | Spermatocytoma | Enrichment | HRAS | 1.57 |
| 197 | Tetraamelia syndrome | Enrichment | WNT3 | 1.57 |
| 198 | Colon adenocarcinoma | Enrichment | APC | 1.57 |
| 199 | Cerebral sinovenous thrombosis | Enrichment | F2 | 1.57 |
| 200 | Apc-associated polyposis conditions | Enrichment | APC | 1.57 |
| 201 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.45 |
| 202 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.45 |
| 203 | Pilomatrixoma | Enrichment | CTNNB1 | 1.45 |
| 204 | Pituitary adenoma 5, multiple types | Enrichment | CDH23 | 1.45 |
| 205 | Alazami syndrome | Enrichment | CTNNB1 | 1.45 |
| 206 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.45 |
| 207 | Retinopathy of prematurity | Enrichment | FZD4 | 1.45 |
| 208 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.45 |
| 209 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.45 |
| 210 | Pilocytic astrocytoma | Enrichment | KRAS | 1.45 |
| 211 | Prolactinoma | Enrichment | CDH23 | 1.45 |
| 212 | Epidermolytic nevus | Enrichment | HRAS | 1.45 |
| 213 | Eyelid coloboma | Enrichment | FZD5 | 1.45 |
| 214 | Vacterl association | Enrichment | CDH13 | 1.45 |
| 215 | Lens coloboma | Enrichment | FZD5 | 1.45 |
| 216 | Capillary malformations, congenital | Enrichment | RASA1 | 1.35 |
| 217 | Moebius syndrome | Enrichment | CHN1 | 1.35 |
| 218 | Martsolf syndrome 1 | Enrichment | ARHGAP5 | 1.35 |
| 219 | Vater/vacterl association | Enrichment | CDH13 | 1.35 |
| 220 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.35 |
| 221 | Norrie disease | Enrichment | FZD4 | 1.35 |
| 222 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.35 |
| 223 | Persistent hyperplastic primary vitreous | Enrichment | FZD4 | 1.35 |
| 224 | Hemimegalencephaly | Enrichment | AKT3 | 1.35 |
| 225 | Coloboma of choroid and retina | Enrichment | FZD5 | 1.35 |
| 226 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 1.29 |
| 227 | Klippel-trenaunay-weber syndrome | Enrichment | RASA1 | 1.27 |
| 228 | Coloboma of optic nerve | Enrichment | FZD5 | 1.27 |
| 229 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.27 |
| 230 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.27 |
| 231 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.27 |
| 232 | Usher syndrome, type id | Enrichment | CDH23 | 1.27 |
| 233 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.27 |
| 234 | Deafness, autosomal recessive 12 | Enrichment | CDH23 | 1.27 |
| 235 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.27 |
| 236 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.27 |
| 237 | Lung squamous cell carcinoma | Enrichment | KRAS | 1.27 |
| 238 | Multicystic kidney dysplasia | Enrichment | FZD3 | 1.27 |
| 239 | Syndromic rod-cone dystrophy | Enrichment | CDH23 | 1.27 |
| 240 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.27 |
| 241 | Multicystic dysplastic kidney | Enrichment | FZD3 | 1.27 |
| 242 | Meniere disease | Enrichment | CDH23 | 1.21 |
| 243 | Thrombophilia due to thrombin defect | Enrichment | F2 | 1.21 |
| 244 | Myelofibrosis | Enrichment | SRC | 1.21 |
| 245 | Coats disease | Enrichment | FZD4 | 1.21 |
| 246 | Usher syndrome, type iia | Enrichment | CDH23 | 1.21 |
| 247 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.21 |
| 248 | Megacolon | Enrichment | AKT3 | 1.21 |
| 249 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.21 |
| 250 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.21 |
| 251 | Coronary heart disease 5 | Enrichment | IKBKG | 1.10 |
| 252 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.10 |
| 253 | Primary hyperaldosteronism | Enrichment | CDH23 | 1.10 |
| 254 | Colonic benign neoplasm | Enrichment | APC | 1.10 |
| 255 | Cowden syndrome | Enrichment | AKT1 | 1.10 |
| 256 | Hypotrichosis simplex | Enrichment | CDH3 | 1.10 |
| 257 | Cat eye syndrome | Enrichment | FZD5 | 1.06 |
| 258 | Stroke, ischemic | Enrichment | F2 | 1.06 |
| 259 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.06 |
| 260 | Polymicrogyria | Enrichment | AKT3 | 1.06 |
| 261 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.06 |
| 262 | Myeloma, multiple | Enrichment | KRAS, PIK3R2 | 1.04 |
| 263 | Usher syndrome type 2 | Enrichment | CDH23 | 1.02 |
| 264 | Specific learning disability | Enrichment | MAPK1 | 1.02 |
| 265 | Meningioma | Enrichment | AKT1 | 0.98 |
| 266 | Lip and oral cavity carcinoma | Enrichment | HRAS | 0.98 |
| 267 | Microphthalmia/coloboma 12 | Enrichment | FZD5 | 0.95 |
| 268 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 0.95 |
| 269 | Protein-deficiency anemia | Enrichment | NRAS | 0.95 |
| 270 | Lung cancer susceptibility 3 | Enrichment | KRAS | 0.92 |
| 271 | Cleft lip/palate | Enrichment | CDH1 | 0.92 |
| 272 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2 | 0.92 |
| 273 | Coloboma of macula | Enrichment | FZD5 | 0.89 |
| 274 | Corpus callosum, agenesis of | Enrichment | CDH2 | 0.89 |
| 275 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 0.89 |
| 276 | Usher syndrome, type i | Enrichment | CDH23 | 0.89 |
| 277 | Hydrocephalus | Enrichment | FZD3 | 0.89 |
| 278 | Lynch syndrome | Enrichment | KRAS | 0.89 |
| 279 | Isolated corpus callosum agenesis | Enrichment | CDH2 | 0.89 |
| 280 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2 | 0.89 |
| 281 | Rhabdomyosarcoma | Enrichment | HRAS | 0.87 |
| 282 | Gliosarcoma | Enrichment | NFKBIA | 0.87 |
| 283 | Polycystic liver disease | Enrichment | CTNNB1 | 0.84 |
| 284 | Giant cell glioblastoma | Enrichment | NFKBIA | 0.84 |
| 285 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 0.84 |
| 286 | Heart, malformation of | Enrichment | MAPK1 | 0.82 |
| 287 | Diffuse large b-cell lymphoma | Enrichment | BTK | 0.80 |
| 288 | Endometrial cancer | Enrichment | CDH1 | 0.76 |
| 289 | Brittle bone disorder | Enrichment | WNT1 | 0.72 |
| 290 | Malaria | Enrichment | IKBKG | 0.72 |
| 291 | Ear malformation | Enrichment | CDH23 | 0.71 |
| 292 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.71 |
| 293 | Pancreatic cancer | Enrichment | KRAS | 0.69 |
| 294 | Auditory neuropathy | Enrichment | CDH2 | 0.68 |
| 295 | Prostate cancer | Enrichment | CDH1 | 0.63 |
| 296 | Lung cancer | Enrichment | KRAS | 0.60 |
| 297 | Cystic fibrosis | Enrichment | SLC9A3 | 0.60 |
| 298 | Usher syndrome | Enrichment | CDH23 | 0.59 |
| 299 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.59 |
| 300 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.59 |
| 301 | Autism spectrum disorder | Enrichment | MAP2K1, MEF2C | 0.59 |
| 302 | Left ventricular noncompaction | Enrichment | RAF1 | 0.56 |
| 303 | Non-syndromic genetic deafness | Enrichment | CDH23 | 0.55 |
| 304 | Cerebral palsy | Enrichment | F2 | 0.52 |
| 305 | Microcephaly | Enrichment | CTNNB1, MAPK1 | 0.51 |
| 306 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.50 |
| 307 | Distal arthrogryposis | Enrichment | FZD3 | 0.50 |
| 308 | Nonsyndromic hearing loss | Enrichment | CDH23 | 0.50 |
| 309 | Inherited cancer-predisposing syndrome | Enrichment | APC, CDH1 | 0.47 |
| 310 | Sensorineural hearing loss | Enrichment | CDH23 | 0.45 |
| 311 | Thrombocytopenia | Enrichment | SRC | 0.45 |
| 312 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CDH15 | 0.44 |
| 313 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.42 |
| 314 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.40 |
| 315 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MEF2C | 0.39 |
| 316 | Deafness, autosomal recessive | Enrichment | CDH23 | 0.36 |
| 317 | Autosomal recessive nonsyndromic deafness | Enrichment | CDH23 | 0.35 |
| 318 | Hereditary retinal dystrophy | Enrichment | CDH23, CDH3, FZD4 | 0.31 |
| 319 | Fundus dystrophy | Enrichment | CDH23, CDH3, FZD4 | 0.31 |
| 320 | Rare genetic deafness | Enrichment | CDH23 | 0.29 |
| 321 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.29 |
| 322 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | CDH23 | 0.25 |
| 323 | Retinitis pigmentosa | Enrichment | CDH23, CDH3 | 0.24 |
| 324 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.21 |
| 325 | Nervous system disease | Enrichment | CTNNB1 | 0.21 |
| 326 | Complex neurodevelopmental disorder | Enrichment | RAC3 | 0.17 |