| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, MAP2K1, RAF1, SOS1 | 6.20 |
| 2 | Colorectal cancer | Enrichment | AKT1, APC, CTNNB1, ERBB2, FZD3, SRC | 5.45 |
| 3 | Noonan syndrome 1 | Enrichment | CBL, MAP2K1, RAF1, SOS1 | 5.40 |
| 4 | Rasopathy | Enrichment | CBL, MAP2K1, RAF1, SOS1 | 5.18 |
| 5 | Ovarian cancer | Enrichment | AKT1, APC, CDKN1B, CTNNB1, EGFR, ERBB2 | 5.07 |
| 6 | Bladder cancer | Enrichment | CDKN1A, CTNNB1, EGFR, ERBB2 | 4.98 |
| 7 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2, MAP2K1 | 4.77 |
| 8 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 4.17 |
| 9 | Desmoid tumor | Enrichment | APC, CTNNB1 | 4.17 |
| 10 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1, FZD2 | 3.87 |
| 11 | Craniopharyngioma | Enrichment | APC, CTNNB1 | 3.87 |
| 12 | Autosomal dominant robinow syndrome | Enrichment | DVL1, FZD2 | 3.87 |
| 13 | Hepatocellular carcinoma | Enrichment | APC, AXIN1, CTNNB1 | 3.82 |
| 14 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4, NEFH, PFN1, SOD1 | 3.78 |
| 15 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, FZD4 | 3.65 |
| 16 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1, FZD2 | 3.65 |
| 17 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1, FZD2 | 3.65 |
| 18 | Autosomal recessive robinow syndrome | Enrichment | DVL1, FZD2 | 3.48 |
| 19 | Breast cancer | Enrichment | AKT1, APC, JUN, SHC1 | 3.34 |
| 20 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B | 3.33 |
| 21 | Noonan syndrome 3 | Enrichment | RAF1, SOS1 | 3.33 |
| 22 | Exudative vitreoretinopathy | Enrichment | CTNNB1, FZD4 | 3.21 |
| 23 | Adult hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1 | 3.10 |
| 24 | Amyotrophic lateral sclerosis 1 | Enrichment | NEFH, SOD1 | 3.00 |
| 25 | Medulloblastoma | Enrichment | APC, CTNNB1 | 2.70 |
| 26 | Lung cancer susceptibility 3 | Enrichment | EGFR, ERBB2 | 2.70 |
| 27 | Hepatoblastoma | Enrichment | APC, CTNNB1 | 2.35 |
| 28 | Proteus syndrome | Enrichment | AKT1 | 2.32 |
| 29 | Paget disease, extramammary | Enrichment | ERBB2 | 2.32 |
| 30 | Pyloric stenosis, infantile hypertrophic, 1 | Enrichment | NOS1 | 2.32 |
| 31 | Nail disorder, nonsyndromic congenital, 1 | Enrichment | FZD6 | 2.32 |
| 32 | Noonan syndrome 5 | Enrichment | RAF1 | 2.32 |
| 33 | Noonan syndrome 4 | Enrichment | SOS1 | 2.32 |
| 34 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.32 |
| 35 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.32 |
| 36 | Omodysplasia 2 | Enrichment | FZD2 | 2.32 |
| 37 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.32 |
| 38 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.32 |
| 39 | Amyotrophic lateral sclerosis 18 | Enrichment | PFN1 | 2.32 |
| 40 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.32 |
| 41 | Charcot-marie-tooth disease, demyelinating, type 1f | Enrichment | NEFL | 2.32 |
| 42 | Caudal duplication anomaly | Enrichment | AXIN1 | 2.32 |
| 43 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.32 |
| 44 | Charcot-marie-tooth disease, axonal, type 2cc | Enrichment | NEFH | 2.32 |
| 45 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.32 |
| 46 | Charcot-marie-tooth disease, dominant intermediate g | Enrichment | NEFL | 2.32 |
| 47 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.32 |
| 48 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.32 |
| 49 | Melorheostosis | Enrichment | MAP2K1 | 2.32 |
| 50 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.32 |
| 51 | Leopard syndrome 2 | Enrichment | RAF1 | 2.32 |
| 52 | Glutathione peroxidase deficiency | Enrichment | GPX1 | 2.32 |
| 53 | Charcot-marie-tooth disease type 1f | Enrichment | NEFL | 2.32 |
| 54 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.32 |
| 55 | Cowden syndrome 6 | Enrichment | AKT1 | 2.32 |
| 56 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 2.32 |
| 57 | Microphthalmia/coloboma 11 | Enrichment | FZD5 | 2.32 |
| 58 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.32 |
| 59 | Thrombocytopenia 6 | Enrichment | SRC | 2.32 |
| 60 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.32 |
| 61 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.32 |
| 62 | Congenital myopathy 14 | Enrichment | MYL1 | 2.32 |
| 63 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.32 |
| 64 | Trigonitis | Enrichment | RAF1 | 2.32 |
| 65 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 2.32 |
| 66 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.32 |
| 67 | Charcot-marie-tooth disease type 2b5 | Enrichment | NEFL | 2.32 |
| 68 | Familial adenomatous polyposis | Enrichment | APC | 2.32 |
| 69 | Zebra body myopathy | Enrichment | ACTA1 | 2.32 |
| 70 | Gardner syndrome | Enrichment | APC | 2.32 |
| 71 | 5q22 microdeletion syndrome | Enrichment | APC | 2.32 |
| 72 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.32 |
| 73 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.32 |
| 74 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.32 |
| 75 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.32 |
| 76 | Hydrops fetalis, nonimmune | Enrichment | ACTA1, FZD6 | 2.17 |
| 77 | Burkitt lymphoma | Enrichment | MYC | 2.02 |
| 78 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.02 |
| 79 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 2.02 |
| 80 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 2.02 |
| 81 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.02 |
| 82 | Ovarian germ cell cancer | Enrichment | CBL | 2.02 |
| 83 | Pulmonic stenosis | Enrichment | SOS1 | 2.02 |
| 84 | Hereditary motor and sensory neuropathy, type iic | Enrichment | NEFH | 2.02 |
| 85 | Robinow syndrome, autosomal dominant 3 | Enrichment | FZD2 | 2.02 |
| 86 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.02 |
| 87 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.02 |
| 88 | Spastic tetraplegia and axial hypotonia, progressive | Enrichment | SOD1 | 2.02 |
| 89 | Periampullary adenoma | Enrichment | APC | 2.02 |
| 90 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 2.02 |
| 91 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 2.02 |
| 92 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.02 |
| 93 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.02 |
| 94 | Teratoma | Enrichment | CTNNB1 | 2.02 |
| 95 | Non-immune hydrops fetalis | Enrichment | ACTA1, FZD6 | 2.02 |
| 96 | Lung cancer | Enrichment | EGFR, ERBB2 | 1.99 |
| 97 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.84 |
| 98 | Nuchal bleb, familial | Enrichment | SOS1 | 1.84 |
| 99 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.84 |
| 100 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.84 |
| 101 | Aortic aneurysm, familial thoracic 7 | Enrichment | MYLK | 1.84 |
| 102 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.84 |
| 103 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.84 |
| 104 | Anus, imperforate | Enrichment | CTNNB1 | 1.84 |
| 105 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.84 |
| 106 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.84 |
| 107 | Nail disease | Enrichment | FZD6 | 1.84 |
| 108 | Colon adenocarcinoma | Enrichment | APC | 1.84 |
| 109 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.84 |
| 110 | Apc-associated polyposis conditions | Enrichment | APC | 1.84 |
| 111 | Distal arthrogryposis | Enrichment | ACTA1, FZD3 | 1.76 |
| 112 | Gastric cancer | Enrichment | APC, ERBB2 | 1.74 |
| 113 | Hereditary breast carcinoma | Enrichment | AKT1, APC | 1.73 |
| 114 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 1.72 |
| 115 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.72 |
| 116 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | MYLK | 1.72 |
| 117 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.72 |
| 118 | Pilomatrixoma | Enrichment | CTNNB1 | 1.72 |
| 119 | Barrett esophagus | Enrichment | ERBB2 | 1.72 |
| 120 | Alazami syndrome | Enrichment | CTNNB1 | 1.72 |
| 121 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 1.72 |
| 122 | Retinopathy of prematurity | Enrichment | FZD4 | 1.72 |
| 123 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL | 1.72 |
| 124 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.72 |
| 125 | Idiopathic achalasia | Enrichment | NOS1 | 1.72 |
| 126 | Eyelid coloboma | Enrichment | FZD5 | 1.72 |
| 127 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.72 |
| 128 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.72 |
| 129 | Gingival fibromatosis | Enrichment | SOS1 | 1.72 |
| 130 | Lens coloboma | Enrichment | FZD5 | 1.72 |
| 131 | Visceral myopathy 1 | Enrichment | MYLK | 1.62 |
| 132 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.62 |
| 133 | Norrie disease | Enrichment | FZD4 | 1.62 |
| 134 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | Enrichment | SOD1 | 1.62 |
| 135 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.62 |
| 136 | Charcot-marie-tooth disease, axonal, type 2e | Enrichment | NEFL | 1.62 |
| 137 | Myeloproliferative neoplasm | Enrichment | CBL | 1.62 |
| 138 | Persistent hyperplastic primary vitreous | Enrichment | FZD4 | 1.62 |
| 139 | Coloboma of choroid and retina | Enrichment | FZD5 | 1.62 |
| 140 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.62 |
| 141 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.62 |
| 142 | Inherited cancer-predisposing syndrome | Enrichment | APC, CDKN1B, EGFR | 1.60 |
| 143 | Coloboma of optic nerve | Enrichment | FZD5 | 1.55 |
| 144 | Cowden syndrome 1 | Enrichment | EGFR | 1.55 |
| 145 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.55 |
| 146 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.55 |
| 147 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.55 |
| 148 | Breast adenocarcinoma | Enrichment | AKT1 | 1.55 |
| 149 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.55 |
| 150 | Multicystic kidney dysplasia | Enrichment | FZD3 | 1.55 |
| 151 | Typical nemaline myopathy | Enrichment | ACTA1 | 1.55 |
| 152 | Multicystic dysplastic kidney | Enrichment | FZD3 | 1.55 |
| 153 | Myelofibrosis | Enrichment | SRC | 1.48 |
| 154 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.48 |
| 155 | Coats disease | Enrichment | FZD4 | 1.48 |
| 156 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.48 |
| 157 | Motor neuron disease | Enrichment | SOD1 | 1.48 |
| 158 | Gallbladder cancer | Enrichment | CTNNB1 | 1.48 |
| 159 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.48 |
| 160 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.48 |
| 161 | Melanocytic nevus syndrome, congenital | Enrichment | RAF1 | 1.42 |
| 162 | Glioma susceptibility 1 | Enrichment | ERBB2 | 1.42 |
| 163 | Arteriovenous malformation | Enrichment | MAP2K1 | 1.37 |
| 164 | Colonic benign neoplasm | Enrichment | APC | 1.37 |
| 165 | Cowden syndrome | Enrichment | AKT1 | 1.37 |
| 166 | Familial thoracic aortic aneurysm and dissection | Enrichment | MYLK | 1.37 |
| 167 | Cat eye syndrome | Enrichment | FZD5 | 1.33 |
| 168 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1 | 1.33 |
| 169 | Nemaline myopathy | Enrichment | ACTA1 | 1.33 |
| 170 | Specific learning disability | Enrichment | MAPK1 | 1.29 |
| 171 | Juvenile myelomonocytic leukemia | Enrichment | CBL | 1.25 |
| 172 | Meningioma | Enrichment | AKT1 | 1.25 |
| 173 | Lip and oral cavity carcinoma | Enrichment | EGFR | 1.25 |
| 174 | Dilated cardiomyopathy | Enrichment | ACTA1, RAF1 | 1.25 |
| 175 | Aortic valve disease 1 | Enrichment | SOS1 | 1.22 |
| 176 | Microphthalmia/coloboma 12 | Enrichment | FZD5 | 1.22 |
| 177 | Nk-cell enteropathy | Enrichment | ERBB4 | 1.22 |
| 178 | Osteoporosis | Enrichment | SRC | 1.19 |
| 179 | Aortic aneurysm, familial thoracic 1 | Enrichment | MYLK | 1.19 |
| 180 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.19 |
| 181 | Coloboma of macula | Enrichment | FZD5 | 1.16 |
| 182 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.16 |
| 183 | Hydrocephalus | Enrichment | FZD3 | 1.16 |
| 184 | Rhabdomyosarcoma | Enrichment | CBL | 1.13 |
| 185 | Gliosarcoma | Enrichment | EGFR | 1.13 |
| 186 | Polycystic liver disease | Enrichment | CTNNB1 | 1.11 |
| 187 | Giant cell glioblastoma | Enrichment | EGFR | 1.11 |
| 188 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.11 |
| 189 | Heart, malformation of | Enrichment | MAPK1 | 1.08 |
| 190 | Neuromuscular disease | Enrichment | ACTA1 | 1.08 |
| 191 | Arteriovenous malformations of the brain | Enrichment | EGFR | 1.06 |
| 192 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | NEFL | 1.06 |
| 193 | Congenital myopathy | Enrichment | ACTA1 | 1.06 |
| 194 | Centronuclear myopathy | Enrichment | ACTA1 | 1.02 |
| 195 | Tooth agenesis | Enrichment | TGFA | 1.00 |
| 196 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 0.98 |
| 197 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.96 |
| 198 | Microcephaly | Enrichment | CTNNB1, MAPK1 | 0.93 |
| 199 | Auditory neuropathy | Enrichment | NEFL | 0.93 |
| 200 | Hirschsprung disease 1 | Enrichment | ERBB2 | 0.89 |
| 201 | Peripheral nervous system disease | Enrichment | NEFL | 0.85 |
| 202 | Neuropathy | Enrichment | NEFL | 0.85 |
| 203 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.83 |
| 204 | Left ventricular noncompaction | Enrichment | RAF1 | 0.81 |
| 205 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1 | 0.79 |
| 206 | Myopathy | Enrichment | ACTA1 | 0.76 |
| 207 | Charcot-marie-tooth disease | Enrichment | NEFL | 0.75 |
| 208 | Nephrotic syndrome | Enrichment | FN1 | 0.73 |
| 209 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | MYLK | 0.72 |
| 210 | Sensorineural hearing loss | Enrichment | NEFL | 0.69 |
| 211 | Thrombocytopenia | Enrichment | SRC | 0.69 |
| 212 | Autosomal dominant non-syndromic intellectual disability | Enrichment | ERBB4 | 0.67 |
| 213 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.65 |
| 214 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.40 |
| 215 | Nervous system disease | Enrichment | CTNNB1 | 0.40 |
| 216 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.39 |
| 217 | Complex neurodevelopmental disorder | Enrichment | PPP2CA | 0.35 |
| 218 | Hereditary retinal dystrophy | Enrichment | FZD4 | 0.12 |
| 219 | Fundus dystrophy | Enrichment | FZD4 | 0.12 |