| 1 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 | 10.64 |
| 2 | Noonan syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2 | 9.71 |
| 3 | Rasopathy | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2 | 9.38 |
| 4 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS1 | 9.27 |
| 5 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 8.62 |
| 6 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 8.62 |
| 7 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 | 7.66 |
| 8 | Loeys-dietz syndrome 1 | Enrichment | SMAD2, TGFBR1, TGFBR2 | 6.46 |
| 9 | Noonan syndrome 3 | Enrichment | KRAS, RAF1, SOS1 | 4.93 |
| 10 | Gallbladder cancer | Enrichment | BRAF, KRAS, SMAD4 | 4.93 |
| 11 | Hereditary hemorrhagic telangiectasia | Enrichment | ACVRL1, ENG, SMAD4 | 4.93 |
| 12 | Pilomyxoid astrocytoma | Enrichment | BRAF, KRAS, RAF1 | 4.93 |
| 13 | Marfan syndrome | Enrichment | TGFB2, TGFBR1, TGFBR2 | 4.40 |
| 14 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 4.30 |
| 15 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 4.30 |
| 16 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 4.30 |
| 17 | Immune system disease | Enrichment | CDC42, PIK3CD | 4.30 |
| 18 | Tafro syndrome | Enrichment | MAP2K2, RUNX1 | 4.30 |
| 19 | Lung non-small cell carcinoma | Enrichment | BRAF, KRAS, MAP2K1 | 4.26 |
| 20 | Heritable pulmonary arterial hypertension | Enrichment | ACVRL1, ENG, SMAD9 | 4.26 |
| 21 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 3.83 |
| 22 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 3.83 |
| 23 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 3.83 |
| 24 | Melanoma of soft tissue | Enrichment | ATF1, CREB1 | 3.83 |
| 25 | Breast cancer | Enrichment | AKT1, ESR1, JUN, KRAS, SHC1 | 3.73 |
| 26 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3R2 | 3.53 |
| 27 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.53 |
| 28 | Congenital generalized lipodystrophy | Enrichment | FOS, PPARG | 3.53 |
| 29 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 3.53 |
| 30 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 3.53 |
| 31 | Arteriovenous malformations of the brain | Enrichment | BRAF, ENG, KRAS | 3.51 |
| 32 | Ehlers-danlos syndrome | Enrichment | SMAD3, TGFB2, TGFBR2 | 3.51 |
| 33 | Colorectal cancer | Enrichment | AKT1, BRAF, PIK3R1, PPARG, SMAD4 | 3.43 |
| 34 | Histiocytoid hemangioma | Enrichment | FOS, FOSB | 3.31 |
| 35 | Hemimegalencephaly | Enrichment | AKT3, MTOR | 3.31 |
| 36 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | ENG, SMAD4 | 3.31 |
| 37 | Familial cerebral saccular aneurysm | Enrichment | ENG, TGFBR3 | 3.31 |
| 38 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | ACVRL1, ENG | 3.14 |
| 39 | Breast adenocarcinoma | Enrichment | AKT1, KRAS | 3.14 |
| 40 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 2.99 |
| 41 | Leukemia, chronic myeloid | Enrichment | KRAS, RUNX1 | 2.99 |
| 42 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 2.99 |
| 43 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 2.99 |
| 44 | Differentiated thyroid carcinoma | Enrichment | BRAF, KRAS, PPARG | 2.96 |
| 45 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, RAF1 | 2.87 |
| 46 | Primary hyperaldosteronism | Enrichment | BRAF, NR3C1 | 2.76 |
| 47 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 2.67 |
| 48 | Type 2 diabetes mellitus | Enrichment | AKT2, HNF4A, PPARG | 2.49 |
| 49 | Pulmonary hypertension, primary, 1 | Enrichment | ACVRL1, ENG | 2.43 |
| 50 | Hereditary breast carcinoma | Enrichment | AKT1, ESR1, KRAS | 2.43 |
| 51 | Lung cancer susceptibility 3 | Enrichment | BRAF, KRAS | 2.37 |
| 52 | Thrombocytopenia | Enrichment | ACVRL1, RUNX1, SMAD4 | 2.33 |
| 53 | Lynch syndrome | Enrichment | KRAS, TGFBR2 | 2.31 |
| 54 | Pallister-hall syndrome | Enrichment | GLI3 | 2.15 |
| 55 | Proteus syndrome | Enrichment | AKT1 | 2.15 |
| 56 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.15 |
| 57 | Greig cephalopolysyndactyly syndrome | Enrichment | GLI3 | 2.15 |
| 58 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.15 |
| 59 | Prostate cancer, hereditary, x-linked 3 | Enrichment | AR | 2.15 |
| 60 | Oculoectodermal syndrome | Enrichment | KRAS | 2.15 |
| 61 | Pallister-killian syndrome | Enrichment | ARAF | 2.15 |
| 62 | Androgen insensitivity, partial | Enrichment | AR | 2.15 |
| 63 | Noonan syndrome 5 | Enrichment | RAF1 | 2.15 |
| 64 | Telangiectasia, hereditary hemorrhagic, type 2 | Enrichment | ACVRL1 | 2.15 |
| 65 | Noonan syndrome 4 | Enrichment | SOS1 | 2.15 |
| 66 | Polydactyly, preaxial iv | Enrichment | GLI3 | 2.15 |
| 67 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.15 |
| 68 | Noonan syndrome 7 | Enrichment | BRAF | 2.15 |
| 69 | Leopard syndrome 3 | Enrichment | BRAF | 2.15 |
| 70 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.15 |
| 71 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.15 |
| 72 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.15 |
| 73 | Noonan syndrome 9 | Enrichment | SOS2 | 2.15 |
| 74 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.15 |
| 75 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | Enrichment | HNF4A | 2.15 |
| 76 | Osteogenesis imperfecta, type xvi | Enrichment | CREB3L1 | 2.15 |
| 77 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.15 |
| 78 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.15 |
| 79 | Immunodeficiency 92 | Enrichment | REL | 2.15 |
| 80 | Knobloch syndrome 2 | Enrichment | PAK2 | 2.15 |
| 81 | Short syndrome | Enrichment | PIK3R1 | 2.15 |
| 82 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 2.15 |
| 83 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.15 |
| 84 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.15 |
| 85 | Lymphangioma | Enrichment | BRAF | 2.15 |
| 86 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.15 |
| 87 | Phace association | Enrichment | BRAF | 2.15 |
| 88 | Ovarian dysgenesis 8 | Enrichment | ESR2 | 2.15 |
| 89 | Melorheostosis | Enrichment | MAP2K1 | 2.15 |
| 90 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.15 |
| 91 | Leopard syndrome 2 | Enrichment | RAF1 | 2.15 |
| 92 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.15 |
| 93 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.15 |
| 94 | Polydactyly-macrocephaly syndrome | Enrichment | MAX | 2.15 |
| 95 | Cowden syndrome 6 | Enrichment | AKT1 | 2.15 |
| 96 | Pulmonary hypertension, primary, 2 | Enrichment | SMAD9 | 2.15 |
| 97 | Congenital myopathy 17 | Enrichment | MYOD1 | 2.15 |
| 98 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.15 |
| 99 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.15 |
| 100 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.15 |
| 101 | Colorectal cancer 3 | Enrichment | SMAD7 | 2.15 |
| 102 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.15 |
| 103 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.15 |
| 104 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.15 |
| 105 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.15 |
| 106 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.15 |
| 107 | Immunodeficiency 53 | Enrichment | RELB | 2.15 |
| 108 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.15 |
| 109 | Telangiectasis | Enrichment | ACVRL1 | 2.15 |
| 110 | Trigonitis | Enrichment | RAF1 | 2.15 |
| 111 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.15 |
| 112 | Pparg-associated congenital generalized lipodystrophy | Enrichment | PPARG | 2.15 |
| 113 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.15 |
| 114 | Capillary hemangioma | Enrichment | AKT3 | 2.15 |
| 115 | Hyperinsulinism due to hnf4a deficiency | Enrichment | HNF4A | 2.15 |
| 116 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 2.15 |
| 117 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.15 |
| 118 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 2.15 |
| 119 | Complete androgen insensitivity syndrome | Enrichment | AR | 2.15 |
| 120 | Nocarh syndrome | Enrichment | CDC42 | 2.15 |
| 121 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.15 |
| 122 | Ganglioglioma | Enrichment | BRAF | 2.15 |
| 123 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.15 |
| 124 | Phace syndrome | Enrichment | BRAF | 2.15 |
| 125 | Mef2c-related disorder | Enrichment | MEF2C | 2.15 |
| 126 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.15 |
| 127 | Classic hairy cell leukemia | Enrichment | BRAF | 2.15 |
| 128 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.15 |
| 129 | Myeloma, multiple | Enrichment | BRAF, KRAS, PIK3R2 | 2.14 |
| 130 | Diffuse large b-cell lymphoma | Enrichment | BRAF, FOXO1 | 2.11 |
| 131 | Pancreatic cancer | Enrichment | KRAS, SMAD4 | 1.87 |
| 132 | Burkitt lymphoma | Enrichment | MYC | 1.85 |
| 133 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 1.85 |
| 134 | Maturity-onset diabetes of the young, type 1 | Enrichment | HNF4A | 1.85 |
| 135 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.85 |
| 136 | Myhre syndrome | Enrichment | SMAD4 | 1.85 |
| 137 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.85 |
| 138 | Storage pool platelet disease | Enrichment | RUNX1 | 1.85 |
| 139 | Galactosemia ii | Enrichment | NR3C1 | 1.85 |
| 140 | Spinal and bulbar muscular atrophy, x-linked 1 | Enrichment | AR | 1.85 |
| 141 | Carotid intimal medial thickness 1 | Enrichment | PPARG | 1.85 |
| 142 | Pulmonary arteriovenous fistulas | Enrichment | ENG | 1.85 |
| 143 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.85 |
| 144 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 1.85 |
| 145 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 1.85 |
| 146 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.85 |
| 147 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS | 1.85 |
| 148 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 1.85 |
| 149 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.85 |
| 150 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 1.85 |
| 151 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.85 |
| 152 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.85 |
| 153 | 46,xy sex reversal 1 | Enrichment | AR | 1.85 |
| 154 | Androgen insensitivity syndrome | Enrichment | AR | 1.85 |
| 155 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 1.85 |
| 156 | Cebalid syndrome | Enrichment | MTOR | 1.85 |
| 157 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.85 |
| 158 | Tibial hemimelia | Enrichment | GLI3 | 1.85 |
| 159 | Hypospadias 1, x-linked | Enrichment | AR | 1.85 |
| 160 | Rela fusion-positive ependymoma | Enrichment | RELA | 1.85 |
| 161 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.85 |
| 162 | Synpolydactyly | Enrichment | GLI3 | 1.85 |
| 163 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.85 |
| 164 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.85 |
| 165 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.85 |
| 166 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 1.85 |
| 167 | Postaxial polydactyly type b | Enrichment | GLI3 | 1.85 |
| 168 | Familial partial lipodystrophy | Enrichment | PPARG | 1.85 |
| 169 | Posterior hypospadias | Enrichment | AR | 1.85 |
| 170 | Hyperinsulinism | Enrichment | HNF4A | 1.85 |
| 171 | Hyperinsulinism due to hnf1a deficiency | Enrichment | HNF4A | 1.85 |
| 172 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.85 |
| 173 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 1.68 |
| 174 | Thyroid carcinoma, familial medullary | Enrichment | ESR2 | 1.68 |
| 175 | Ataxia-telangiectasia | Enrichment | BRAF | 1.68 |
| 176 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.68 |
| 177 | Acrocallosal syndrome | Enrichment | GLI3 | 1.68 |
| 178 | Aarskog-scott syndrome | Enrichment | GLI3 | 1.68 |
| 179 | Platelet disorder, familial, with associated myeloid malignancy | Enrichment | RUNX1 | 1.68 |
| 180 | Nuchal bleb, familial | Enrichment | SOS1 | 1.68 |
| 181 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.68 |
| 182 | Estrogen resistance | Enrichment | ESR1 | 1.68 |
| 183 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.68 |
| 184 | Umbilical hernia | Enrichment | GLI3 | 1.68 |
| 185 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.68 |
| 186 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 1.68 |
| 187 | Cleidocranial dysplasia | Enrichment | RUNX2 | 1.68 |
| 188 | Migraine without aura | Enrichment | ESR1 | 1.68 |
| 189 | Myxofibrosarcoma | Enrichment | CREB3L1 | 1.68 |
| 190 | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1 | Enrichment | RUNX1 | 1.68 |
| 191 | Pulmonary arterial hypertension associated with congenital heart disease | Enrichment | SMAD9 | 1.68 |
| 192 | Lung cancer | Enrichment | BRAF, KRAS | 1.67 |
| 193 | Connective tissue disease | Enrichment | SMAD3, TGFBR2 | 1.67 |
| 194 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | KRAS | 1.55 |
| 195 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.55 |
| 196 | Hemophilia a | Enrichment | ACVRL1 | 1.55 |
| 197 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.55 |
| 198 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.55 |
| 199 | Lipodystrophy, familial partial, type 3 | Enrichment | PPARG | 1.55 |
| 200 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.55 |
| 201 | Maturity-onset diabetes of the young, type 3 | Enrichment | HNF4A | 1.55 |
| 202 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.55 |
| 203 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.55 |
| 204 | Factor viii deficiency | Enrichment | ACVRL1 | 1.55 |
| 205 | Leptin deficiency or dysfunction | Enrichment | PPARG | 1.55 |
| 206 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 1.55 |
| 207 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.55 |
| 208 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS | 1.55 |
| 209 | Craniopharyngioma | Enrichment | BRAF | 1.55 |
| 210 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.55 |
| 211 | Pilocytic astrocytoma | Enrichment | KRAS | 1.55 |
| 212 | Blood platelet disease | Enrichment | RUNX1 | 1.55 |
| 213 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.55 |
| 214 | Knobloch syndrome | Enrichment | PAK2 | 1.55 |
| 215 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.55 |
| 216 | Gingival fibromatosis | Enrichment | SOS1 | 1.55 |
| 217 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.55 |
| 218 | Pseudomyogenic hemangioendothelioma | Enrichment | FOSB | 1.55 |
| 219 | Leukemia, acute myeloid | Enrichment | KRAS, RUNX1 | 1.49 |
| 220 | Ovarian cancer | Enrichment | AKT1, AR, KRAS | 1.46 |
| 221 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | TRAF6 | 1.46 |
| 222 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.46 |
| 223 | Rhabdomyosarcoma 2 | Enrichment | FOXO1 | 1.46 |
| 224 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.46 |
| 225 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.46 |
| 226 | Aggressive systemic mastocytosis | Enrichment | RUNX1 | 1.46 |
| 227 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | RUNX1 | 1.46 |
| 228 | Gastric cancer | Enrichment | KRAS, SMAD4 | 1.43 |
| 229 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.38 |
| 230 | Myopathy, centronuclear, 1 | Enrichment | MYOD1 | 1.38 |
| 231 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.38 |
| 232 | Wilms tumor 5 | Enrichment | BRAF | 1.38 |
| 233 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.38 |
| 234 | Pancytopenia | Enrichment | RUNX1 | 1.38 |
| 235 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.38 |
| 236 | Lung squamous cell carcinoma | Enrichment | KRAS | 1.38 |
| 237 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.38 |
| 238 | Esophageal cancer | Enrichment | TGFBR2 | 1.31 |
| 239 | Nevus, epidermal | Enrichment | KRAS | 1.31 |
| 240 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF | 1.31 |
| 241 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.31 |
| 242 | Megacolon | Enrichment | AKT3 | 1.31 |
| 243 | Follicular thyroid carcinoma | Enrichment | BRAF | 1.31 |
| 244 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.26 |
| 245 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.26 |
| 246 | Difference of sex development | Enrichment | AR | 1.26 |
| 247 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.21 |
| 248 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.21 |
| 249 | Arteriovenous malformation | Enrichment | MAP2K1 | 1.21 |
| 250 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | RUNX1 | 1.21 |
| 251 | Ventricular septal defect | Enrichment | BRAF | 1.21 |
| 252 | Cowden syndrome | Enrichment | AKT1 | 1.21 |
| 253 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.21 |
| 254 | Inherited cancer-predisposing syndrome | Enrichment | MAX, RUNX1, SMAD4 | 1.17 |
| 255 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1 | 1.16 |
| 256 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.16 |
| 257 | Polymicrogyria | Enrichment | AKT3 | 1.16 |
| 258 | Melanoma | Enrichment | BRAF | 1.16 |
| 259 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.12 |
| 260 | Pectus excavatum | Enrichment | TGFBR1 | 1.12 |
| 261 | 46,xy complete gonadal dysgenesis | Enrichment | AR | 1.12 |
| 262 | Specific learning disability | Enrichment | MAPK1 | 1.12 |
| 263 | Juvenile myelomonocytic leukemia | Enrichment | KRAS | 1.09 |
| 264 | Meningioma | Enrichment | AKT1 | 1.09 |
| 265 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.09 |
| 266 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.09 |
| 267 | Lip and oral cavity carcinoma | Enrichment | BRAF | 1.09 |
| 268 | Aortic valve disease 1 | Enrichment | SOS1 | 1.05 |
| 269 | Diaphragmatic hernia, congenital | Enrichment | GLI3 | 1.05 |
| 270 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.05 |
| 271 | Pheochromocytoma | Enrichment | MAX | 1.02 |
| 272 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.02 |
| 273 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 1.02 |
| 274 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.02 |
| 275 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.00 |
| 276 | Polydactyly, postaxial, type a1 | Enrichment | GLI3 | 1.00 |
| 277 | Wilms tumor 1 | Enrichment | BRAF | 1.00 |
| 278 | Osteogenesis imperfecta, type iii | Enrichment | CREB3L1 | 1.00 |
| 279 | Rare genetic intellectual disability | Enrichment | MTOR | 1.00 |
| 280 | Septopreoptic holoprosencephaly | Enrichment | FOXH1 | 1.00 |
| 281 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FOXH1 | 1.00 |
| 282 | Gliosarcoma | Enrichment | PPARG | 0.97 |
| 283 | Microform holoprosencephaly | Enrichment | FOXH1 | 0.97 |
| 284 | Lobar holoprosencephaly | Enrichment | FOXH1 | 0.97 |
| 285 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 0.96 |
| 286 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 0.94 |
| 287 | Dandy-walker syndrome | Enrichment | BRAF | 0.94 |
| 288 | Polycystic liver disease | Enrichment | HNF4A | 0.94 |
| 289 | Giant cell glioblastoma | Enrichment | PPARG | 0.94 |
| 290 | Autosomal dominant polycystic liver disease | Enrichment | HNF4A | 0.94 |
| 291 | Alobar holoprosencephaly | Enrichment | FOXH1 | 0.94 |
| 292 | Heart, malformation of | Enrichment | MAPK1 | 0.92 |
| 293 | Semilobar holoprosencephaly | Enrichment | FOXH1 | 0.92 |
| 294 | Maturity-onset diabetes of the young | Enrichment | HNF4A | 0.88 |
| 295 | Craniosynostosis | Enrichment | GLI3 | 0.88 |
| 296 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | MAX | 0.86 |
| 297 | Myocardial infarction | Enrichment | ESR1 | 0.84 |
| 298 | Brittle bone disorder | Enrichment | CREB3L1 | 0.82 |
| 299 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 0.82 |
| 300 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.80 |
| 301 | Autism spectrum disorder | Enrichment | MAP2K1, MEF2C | 0.74 |
| 302 | Bladder cancer | Enrichment | KRAS | 0.73 |
| 303 | Hirschsprung disease 1 | Enrichment | GLI3 | 0.73 |
| 304 | Prostate cancer | Enrichment | AR | 0.73 |
| 305 | Non-immune hydrops fetalis | Enrichment | KRAS | 0.70 |
| 306 | Cystic fibrosis | Enrichment | TGFB1 | 0.69 |
| 307 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.68 |
| 308 | Male infertility | Enrichment | AR | 0.67 |
| 309 | Left ventricular noncompaction | Enrichment | RAF1 | 0.66 |
| 310 | Fetal akinesia deformation sequence 1 | Enrichment | MYOD1 | 0.64 |
| 311 | Systemic lupus erythematosus | Enrichment | ENG | 0.62 |
| 312 | Distal arthrogryposis | Enrichment | MYOD1 | 0.59 |
| 313 | Nephrotic syndrome | Enrichment | RUNX2 | 0.58 |
| 314 | Body mass index quantitative trait locus 11 | Enrichment | PPARG | 0.52 |
| 315 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.50 |
| 316 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.49 |
| 317 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | AR | 0.48 |
| 318 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MEF2C | 0.47 |
| 319 | Microcephaly | Enrichment | MAPK1 | 0.23 |
| 320 | Complex neurodevelopmental disorder | Enrichment | PPP2CA | 0.23 |