| 1 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1 | 10.66 |
| 2 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1 | 9.56 |
| 3 | Ovarian cancer | Enrichment | AKT1, APC, CTNNB1, EGFR, ERBB2, KRAS, MET | 8.97 |
| 4 | Bladder cancer | Enrichment | CTNNB1, EGFR, ERBB2, HRAS, KRAS | 8.53 |
| 5 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2, HRAS, KRAS | 8.32 |
| 6 | Colorectal cancer | Enrichment | AKT1, APC, CTNNB1, ERBB2, MET, SMAD4 | 7.71 |
| 7 | Hepatocellular carcinoma | Enrichment | APC, AXIN1, CTNNB1, MET | 6.98 |
| 8 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1 | 6.56 |
| 9 | Gallbladder cancer | Enrichment | CTNNB1, KRAS, SMAD4 | 6.56 |
| 10 | Lung cancer | Enrichment | EGFR, ERBB2, KRAS, MET | 6.30 |
| 11 | Gastric cancer | Enrichment | APC, ERBB2, KRAS, SMAD4 | 5.77 |
| 12 | Lung cancer susceptibility 3 | Enrichment | EGFR, ERBB2, KRAS | 5.55 |
| 13 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, RAF1 | 5.45 |
| 14 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1, MET | 5.39 |
| 15 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 5.39 |
| 16 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 4.91 |
| 17 | Desmoid tumor | Enrichment | APC, CTNNB1 | 4.91 |
| 18 | Loeys-dietz syndrome 1 | Enrichment | SMAD2, TGFBR1 | 4.91 |
| 19 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, RAF1 | 4.87 |
| 20 | Rasopathy | Enrichment | HRAS, KRAS, RAF1 | 4.70 |
| 21 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS | 4.61 |
| 22 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 4.61 |
| 23 | Craniopharyngioma | Enrichment | APC, CTNNB1 | 4.61 |
| 24 | Breast adenocarcinoma | Enrichment | AKT1, KRAS | 4.21 |
| 25 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS | 4.21 |
| 26 | Nevus, epidermal | Enrichment | HRAS, KRAS | 4.07 |
| 27 | Renal cell carcinoma, papillary, 1 | Enrichment | MET, MTOR | 4.07 |
| 28 | Pilomyxoid astrocytoma | Enrichment | KRAS, RAF1 | 4.07 |
| 29 | Hereditary breast carcinoma | Enrichment | AKT1, APC, KRAS | 4.01 |
| 30 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 3.94 |
| 31 | Inherited cancer-predisposing syndrome | Enrichment | APC, EGFR, MET, SMAD4 | 3.83 |
| 32 | Adult hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1 | 3.83 |
| 33 | Marfan syndrome | Enrichment | TGFB2, TGFBR1 | 3.74 |
| 34 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS | 3.57 |
| 35 | Medulloblastoma | Enrichment | APC, CTNNB1 | 3.43 |
| 36 | Renal cell carcinoma, nonpapillary | Enrichment | MET, MTOR | 3.37 |
| 37 | Breast cancer | Enrichment | AKT1, APC, KRAS | 3.32 |
| 38 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 3.16 |
| 39 | Ehlers-danlos syndrome | Enrichment | SMAD3, TGFB2 | 3.16 |
| 40 | Hepatoblastoma | Enrichment | APC, CTNNB1 | 3.07 |
| 41 | Pancreatic cancer | Enrichment | KRAS, SMAD4 | 2.92 |
| 42 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS | 2.79 |
| 43 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.73 |
| 44 | Proteus syndrome | Enrichment | AKT1 | 2.69 |
| 45 | Paget disease, extramammary | Enrichment | ERBB2 | 2.69 |
| 46 | Oculoectodermal syndrome | Enrichment | KRAS | 2.69 |
| 47 | Noonan syndrome 5 | Enrichment | RAF1 | 2.69 |
| 48 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.69 |
| 49 | Stargardt disease 4 | Enrichment | PROM1 | 2.69 |
| 50 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.69 |
| 51 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.69 |
| 52 | Caudal duplication anomaly | Enrichment | AXIN1 | 2.69 |
| 53 | Macular dystrophy, retinal, 2 | Enrichment | PROM1 | 2.69 |
| 54 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.69 |
| 55 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.69 |
| 56 | Osteofibrous dysplasia | Enrichment | MET | 2.69 |
| 57 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.69 |
| 58 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.69 |
| 59 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.69 |
| 60 | Autism 9 | Enrichment | MET | 2.69 |
| 61 | Leopard syndrome 2 | Enrichment | RAF1 | 2.69 |
| 62 | Cowden syndrome 6 | Enrichment | AKT1 | 2.69 |
| 63 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.69 |
| 64 | Retinitis pigmentosa 41 | Enrichment | PROM1 | 2.69 |
| 65 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.69 |
| 66 | Trigonitis | Enrichment | RAF1 | 2.69 |
| 67 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 2.69 |
| 68 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.69 |
| 69 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.69 |
| 70 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.69 |
| 71 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.69 |
| 72 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.69 |
| 73 | Familial adenomatous polyposis | Enrichment | APC | 2.69 |
| 74 | Gardner syndrome | Enrichment | APC | 2.69 |
| 75 | 5q22 microdeletion syndrome | Enrichment | APC | 2.69 |
| 76 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.69 |
| 77 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.69 |
| 78 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.69 |
| 79 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.69 |
| 80 | Myhre syndrome | Enrichment | SMAD4 | 2.38 |
| 81 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.38 |
| 82 | Costello syndrome | Enrichment | HRAS | 2.38 |
| 83 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.38 |
| 84 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 2.38 |
| 85 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1 | 2.38 |
| 86 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.38 |
| 87 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.38 |
| 88 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS | 2.38 |
| 89 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.38 |
| 90 | Cebalid syndrome | Enrichment | MTOR | 2.38 |
| 91 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.38 |
| 92 | Papillary renal cell carcinoma | Enrichment | MET | 2.38 |
| 93 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.38 |
| 94 | Periampullary adenoma | Enrichment | APC | 2.38 |
| 95 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 2.38 |
| 96 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.38 |
| 97 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.38 |
| 98 | Teratoma | Enrichment | CTNNB1 | 2.38 |
| 99 | Wooly hair nevus | Enrichment | HRAS | 2.38 |
| 100 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 2.21 |
| 101 | Osteoporosis, juvenile | Enrichment | WNT3A | 2.21 |
| 102 | Cone-rod dystrophy 12 | Enrichment | PROM1 | 2.21 |
| 103 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.21 |
| 104 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 2.21 |
| 105 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.21 |
| 106 | Anus, imperforate | Enrichment | CTNNB1 | 2.21 |
| 107 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.21 |
| 108 | Large congenital melanocytic nevus | Enrichment | HRAS | 2.21 |
| 109 | Spermatocytoma | Enrichment | HRAS | 2.21 |
| 110 | Colon adenocarcinoma | Enrichment | APC | 2.21 |
| 111 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.21 |
| 112 | Renal cell carcinoma | Enrichment | MET | 2.21 |
| 113 | Apc-associated polyposis conditions | Enrichment | APC | 2.21 |
| 114 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.08 |
| 115 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.08 |
| 116 | Robinow syndrome, autosomal dominant 1 | Enrichment | WNT5A | 2.08 |
| 117 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 2.08 |
| 118 | Pilomatrixoma | Enrichment | CTNNB1 | 2.08 |
| 119 | Barrett esophagus | Enrichment | ERBB2 | 2.08 |
| 120 | Alazami syndrome | Enrichment | CTNNB1 | 2.08 |
| 121 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.08 |
| 122 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.08 |
| 123 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS | 2.08 |
| 124 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 2.08 |
| 125 | Pilocytic astrocytoma | Enrichment | KRAS | 2.08 |
| 126 | Epidermolytic nevus | Enrichment | HRAS | 2.08 |
| 127 | Autosomal dominant robinow syndrome | Enrichment | WNT5A | 2.08 |
| 128 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 2.08 |
| 129 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.99 |
| 130 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.99 |
| 131 | Robinow syndrome, autosomal recessive 1 | Enrichment | WNT5A | 1.99 |
| 132 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.99 |
| 133 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.99 |
| 134 | Hemimegalencephaly | Enrichment | MTOR | 1.99 |
| 135 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.99 |
| 136 | Familial cerebral saccular aneurysm | Enrichment | TGFBR3 | 1.99 |
| 137 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.91 |
| 138 | Cowden syndrome 1 | Enrichment | EGFR | 1.91 |
| 139 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.91 |
| 140 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.91 |
| 141 | Autosomal recessive robinow syndrome | Enrichment | WNT5A | 1.91 |
| 142 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.91 |
| 143 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.91 |
| 144 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.91 |
| 145 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.84 |
| 146 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.84 |
| 147 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS | 1.84 |
| 148 | Leukemia, chronic myeloid | Enrichment | KRAS | 1.84 |
| 149 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.84 |
| 150 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.84 |
| 151 | Overgrowth syndrome | Enrichment | MTOR | 1.84 |
| 152 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF, MET | 1.84 |
| 153 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.79 |
| 154 | Glioma susceptibility 1 | Enrichment | ERBB2 | 1.79 |
| 155 | Leber congenital amaurosis 1 | Enrichment | PROM1 | 1.79 |
| 156 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.79 |
| 157 | Arteriovenous malformation | Enrichment | HRAS | 1.73 |
| 158 | Colonic benign neoplasm | Enrichment | APC | 1.73 |
| 159 | Cowden syndrome | Enrichment | AKT1 | 1.73 |
| 160 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.73 |
| 161 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS | 1.69 |
| 162 | Pectus excavatum | Enrichment | TGFBR1 | 1.65 |
| 163 | Juvenile myelomonocytic leukemia | Enrichment | KRAS | 1.61 |
| 164 | Meningioma | Enrichment | AKT1 | 1.61 |
| 165 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.61 |
| 166 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.61 |
| 167 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.54 |
| 168 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 1.54 |
| 169 | Isolated macular dystrophy | Enrichment | PROM1 | 1.54 |
| 170 | Lynch syndrome | Enrichment | KRAS | 1.52 |
| 171 | Rare genetic intellectual disability | Enrichment | MTOR | 1.52 |
| 172 | Rhabdomyosarcoma | Enrichment | HRAS | 1.49 |
| 173 | Gliosarcoma | Enrichment | EGFR | 1.49 |
| 174 | Polycystic liver disease | Enrichment | CTNNB1 | 1.46 |
| 175 | Giant cell glioblastoma | Enrichment | EGFR | 1.46 |
| 176 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.46 |
| 177 | Tooth agenesis | Enrichment | TGFA | 1.35 |
| 178 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.31 |
| 179 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.28 |
| 180 | Hirschsprung disease 1 | Enrichment | ERBB2 | 1.23 |
| 181 | Stargardt disease 1 | Enrichment | PROM1 | 1.22 |
| 182 | Cystic fibrosis | Enrichment | TGFB1 | 1.19 |
| 183 | Connective tissue disease | Enrichment | SMAD3 | 1.19 |
| 184 | Usher syndrome | Enrichment | PROM1 | 1.18 |
| 185 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.18 |
| 186 | Left ventricular noncompaction | Enrichment | RAF1 | 1.16 |
| 187 | Leukemia, acute myeloid | Enrichment | KRAS | 1.10 |
| 188 | Sensorineural hearing loss | Enrichment | HGF | 1.02 |
| 189 | Thrombocytopenia | Enrichment | SMAD4 | 1.02 |
| 190 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.98 |
| 191 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.97 |
| 192 | Myeloma, multiple | Enrichment | KRAS | 0.96 |
| 193 | Cone-rod dystrophy 2 | Enrichment | PROM1 | 0.88 |
| 194 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.82 |
| 195 | Leber plus disease | Enrichment | PROM1 | 0.75 |
| 196 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.70 |
| 197 | Nervous system disease | Enrichment | CTNNB1 | 0.70 |
| 198 | Microcephaly | Enrichment | CTNNB1 | 0.65 |
| 199 | Retinitis pigmentosa | Enrichment | PROM1 | 0.45 |
| 200 | Hereditary retinal dystrophy | Enrichment | PROM1 | 0.34 |
| 201 | Fundus dystrophy | Enrichment | PROM1 | 0.34 |