| 1 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, PTPN11, RAF1, SOS1 | 9.11 |
| 2 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, MAP2K1, PTPN11, RAF1, SOS1 | 8.88 |
| 3 | Bladder cancer | Enrichment | CDKN1A, CDKN2A, CTNNB1, EGFR, HRAS, KRAS, PIK3CA | 8.53 |
| 4 | Lung non-small cell carcinoma | Enrichment | EGFR, HRAS, KRAS, MAP2K1, PIK3CA | 7.81 |
| 5 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, MAP2K1, PTPN11, RAF1, SOS1 | 7.60 |
| 6 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, EGFR, HRAS, KIT, PIK3CA | 7.58 |
| 7 | Rasopathy | Enrichment | HRAS, KRAS, MAP2K1, PTPN11, RAF1, SOS1 | 7.25 |
| 8 | Lung squamous cell carcinoma | Enrichment | CDKN2A, EGFR, KRAS, PIK3CA | 7.19 |
| 9 | Ovarian cancer | Enrichment | AKT1, CDH1, CDKN1B, CDKN2A, CTNNB1, EGFR, KIT, KRAS, PIK3CA | 6.85 |
| 10 | Colorectal cancer | Enrichment | AKT1, CCND1, CDH1, CTNNB1, PIK3CA, PIK3R1, PPARG, SRC | 6.24 |
| 11 | Breast cancer | Enrichment | AKT1, CDH1, IL2, JUN, KRAS, PIK3CA, SHC1 | 5.57 |
| 12 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA | 4.97 |
| 13 | Nevus, epidermal | Enrichment | HRAS, KRAS, PIK3CA | 4.73 |
| 14 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1, PIK3CA | 4.73 |
| 15 | Gallbladder cancer | Enrichment | CTNNB1, KRAS, PIK3CA | 4.73 |
| 16 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA | 4.35 |
| 17 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA | 4.20 |
| 18 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 3.70 |
| 19 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2, STAT3 | 3.70 |
| 20 | Gliosarcoma | Enrichment | EGFR, NFKBIA, PPARG | 3.55 |
| 21 | Giant cell glioblastoma | Enrichment | EGFR, NFKBIA, PPARG | 3.47 |
| 22 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS | 3.40 |
| 23 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS, MAP2K1 | 3.40 |
| 24 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, KRAS | 3.40 |
| 25 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 3.40 |
| 26 | Congenital generalized lipodystrophy | Enrichment | FOS, PPARG | 3.40 |
| 27 | Cardiofaciocutaneous syndrome | Enrichment | KRAS, MAP2K1 | 3.40 |
| 28 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42, PTPN11 | 3.40 |
| 29 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11, RAF1 | 3.40 |
| 30 | Gastric cancer | Enrichment | CDH1, CDKN2A, KRAS, PIK3CA | 3.37 |
| 31 | Hereditary breast carcinoma | Enrichment | AKT1, CDH1, KRAS, PIK3CA | 3.33 |
| 32 | Capillary malformations, congenital | Enrichment | GNAQ, PIK3CA | 3.18 |
| 33 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, CDKN1B, CDKN2A, EGFR, KIT, PTPN11 | 3.11 |
| 34 | Klippel-trenaunay-weber syndrome | Enrichment | GNAQ, PIK3CA | 3.00 |
| 35 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 3.00 |
| 36 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.00 |
| 37 | Adrenocortical carcinoma | Enrichment | CDKN2A, CTNNB1 | 3.00 |
| 38 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B | 2.86 |
| 39 | Myelofibrosis | Enrichment | JAK2, SRC | 2.86 |
| 40 | Pilomyxoid astrocytoma | Enrichment | KRAS, RAF1 | 2.86 |
| 41 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, PPARG | 2.77 |
| 42 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 2.74 |
| 43 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS, PTPN11 | 2.68 |
| 44 | Lung cancer | Enrichment | EGFR, KRAS, PIK3CA | 2.64 |
| 45 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 2.63 |
| 46 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 2.63 |
| 47 | Specific learning disability | Enrichment | MAPK1, PTPN11 | 2.45 |
| 48 | Epicanthus | Enrichment | PTPN11, TCF4 | 2.37 |
| 49 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, PTPN11 | 2.37 |
| 50 | Meningioma | Enrichment | AKT1, PIK3CA | 2.37 |
| 51 | Leukemia, acute myeloid | Enrichment | JAK2, KIT, KRAS | 2.36 |
| 52 | Lung cancer susceptibility 3 | Enrichment | EGFR, KRAS | 2.24 |
| 53 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 2.18 |
| 54 | Macrodactyly | Enrichment | PIK3CA | 2.08 |
| 55 | Proteus syndrome | Enrichment | AKT1 | 2.08 |
| 56 | Metachondromatosis | Enrichment | PTPN11 | 2.08 |
| 57 | Oculoectodermal syndrome | Enrichment | KRAS | 2.08 |
| 58 | Noonan syndrome 5 | Enrichment | RAF1 | 2.08 |
| 59 | Noonan syndrome 4 | Enrichment | SOS1 | 2.08 |
| 60 | Mastocytosis, cutaneous | Enrichment | KIT | 2.08 |
| 61 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.08 |
| 62 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.08 |
| 63 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.08 |
| 64 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.08 |
| 65 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.08 |
| 66 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.08 |
| 67 | Lichtenstein-knorr syndrome | Enrichment | SLC9A1 | 2.08 |
| 68 | Fetal encasement syndrome | Enrichment | CHUK | 2.08 |
| 69 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.08 |
| 70 | Sturge-weber syndrome | Enrichment | GNAQ | 2.08 |
| 71 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.08 |
| 72 | Charcot-marie-tooth disease, axonal, type 2hh | Enrichment | JAG1 | 2.08 |
| 73 | Immunodeficiency 15b | Enrichment | IKBKB | 2.08 |
| 74 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.08 |
| 75 | Immunodeficiency 15a | Enrichment | IKBKB | 2.08 |
| 76 | Short syndrome | Enrichment | PIK3R1 | 2.08 |
| 77 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.08 |
| 78 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.08 |
| 79 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.08 |
| 80 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.08 |
| 81 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 2.08 |
| 82 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.08 |
| 83 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.08 |
| 84 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.08 |
| 85 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.08 |
| 86 | Melorheostosis | Enrichment | MAP2K1 | 2.08 |
| 87 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.08 |
| 88 | Leopard syndrome 2 | Enrichment | RAF1 | 2.08 |
| 89 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.08 |
| 90 | Cowden syndrome 6 | Enrichment | AKT1 | 2.08 |
| 91 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.08 |
| 92 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.08 |
| 93 | Corneal dystrophy, fuchs endothelial, 3 | Enrichment | TCF4 | 2.08 |
| 94 | Congenital heart defects and ectodermal dysplasia | Enrichment | PRKD1 | 2.08 |
| 95 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.08 |
| 96 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.08 |
| 97 | 20p12.3 microdeletion syndrome | Enrichment | BMP2 | 2.08 |
| 98 | Thrombocytopenia 6 | Enrichment | SRC | 2.08 |
| 99 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.08 |
| 100 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.08 |
| 101 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.08 |
| 102 | Deafness, congenital heart defects, and posterior embryotoxon | Enrichment | JAG1 | 2.08 |
| 103 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | Enrichment | BMP2 | 2.08 |
| 104 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.08 |
| 105 | Chronic mast cell leukemia | Enrichment | KIT | 2.08 |
| 106 | Trigonitis | Enrichment | RAF1 | 2.08 |
| 107 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.08 |
| 108 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.08 |
| 109 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.08 |
| 110 | Pparg-associated congenital generalized lipodystrophy | Enrichment | PPARG | 2.08 |
| 111 | Hypospadias | Enrichment | PIK3CA | 2.08 |
| 112 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.08 |
| 113 | Breast lobular carcinoma | Enrichment | CDH1 | 2.08 |
| 114 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 2.08 |
| 115 | Isolated bone marrow mastocytosis | Enrichment | KIT | 2.08 |
| 116 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.08 |
| 117 | Smoldering systemic mastocytosis | Enrichment | KIT | 2.08 |
| 118 | Rare venous malformation | Enrichment | PIK3CA | 2.08 |
| 119 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.08 |
| 120 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 2.08 |
| 121 | Nocarh syndrome | Enrichment | CDC42 | 2.08 |
| 122 | Mastocytosis | Enrichment | KIT | 2.08 |
| 123 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.08 |
| 124 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.08 |
| 125 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.08 |
| 126 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.08 |
| 127 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.08 |
| 128 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.08 |
| 129 | Cutaneous mastocytoma | Enrichment | KIT | 2.08 |
| 130 | Typical urticaria pigmentosa | Enrichment | KIT | 2.08 |
| 131 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.08 |
| 132 | Mef2c-related disorder | Enrichment | MEF2C | 2.08 |
| 133 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.08 |
| 134 | Nodular urticaria pigmentosa | Enrichment | KIT | 2.08 |
| 135 | Malignant epithelial tumor of salivary glands | Enrichment | PRKD1 | 2.08 |
| 136 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.08 |
| 137 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.08 |
| 138 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 2.08 |
| 139 | Acute mast cell leukemia | Enrichment | KIT | 2.08 |
| 140 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.08 |
| 141 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.08 |
| 142 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 2.08 |
| 143 | Macrodactyly of toe | Enrichment | PIK3CA | 2.08 |
| 144 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.08 |
| 145 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.08 |
| 146 | Malignant astrocytoma | Enrichment | PTPN11 | 2.08 |
| 147 | Testis seminoma | Enrichment | KIT | 2.08 |
| 148 | Heart, malformation of | Enrichment | JAG1, MAPK1 | 2.02 |
| 149 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 1.98 |
| 150 | Diffuse large b-cell lymphoma | Enrichment | FOXO1, STAT3 | 1.98 |
| 151 | Myeloma, multiple | Enrichment | CCND1, KRAS, PIK3R2 | 1.96 |
| 152 | Autism spectrum disorder | Enrichment | MAP2K1, MEF2C, PTPN11, TCF4 | 1.90 |
| 153 | Endometrial cancer | Enrichment | CDH1, PIK3CA | 1.89 |
| 154 | Hepatoblastoma | Enrichment | CTNNB1, JAG1 | 1.89 |
| 155 | Hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 1.85 |
| 156 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A, MYC | 1.82 |
| 157 | Gilles de la tourette syndrome | Enrichment | HDC | 1.78 |
| 158 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 1.78 |
| 159 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 1.78 |
| 160 | Burkitt lymphoma | Enrichment | MYC | 1.78 |
| 161 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.78 |
| 162 | Costello syndrome | Enrichment | HRAS | 1.78 |
| 163 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.78 |
| 164 | Carotid intimal medial thickness 1 | Enrichment | PPARG | 1.78 |
| 165 | Pulmonic stenosis | Enrichment | SOS1 | 1.78 |
| 166 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.78 |
| 167 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | Enrichment | CLDN1 | 1.78 |
| 168 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 1.78 |
| 169 | Piebald trait | Enrichment | KIT | 1.78 |
| 170 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.78 |
| 171 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.78 |
| 172 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 1.78 |
| 173 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS | 1.78 |
| 174 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.78 |
| 175 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.78 |
| 176 | Thrombocythemia 3 | Enrichment | JAK2 | 1.78 |
| 177 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.78 |
| 178 | Diarrhea 8, secretory sodium, congenital | Enrichment | SLC9A3 | 1.78 |
| 179 | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | Enrichment | KAT5 | 1.78 |
| 180 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.78 |
| 181 | Werner syndrome | Enrichment | PTPN11 | 1.78 |
| 182 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 1.78 |
| 183 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.78 |
| 184 | Rela fusion-positive ependymoma | Enrichment | RELA | 1.78 |
| 185 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 1.78 |
| 186 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.78 |
| 187 | Fibrolamellar carcinoma | Enrichment | PRKACA | 1.78 |
| 188 | Ectodermal dysplasia and immune deficiency | Enrichment | NFKBIA | 1.78 |
| 189 | Immune system disease | Enrichment | CDC42 | 1.78 |
| 190 | Polycythemia | Enrichment | JAK2 | 1.78 |
| 191 | Craniosynostosis 7 | Enrichment | BMP2 | 1.78 |
| 192 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.78 |
| 193 | Familial partial lipodystrophy | Enrichment | PPARG | 1.78 |
| 194 | Hypereosinophilic syndrome | Enrichment | JAK2 | 1.78 |
| 195 | Teratoma | Enrichment | CTNNB1 | 1.78 |
| 196 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 1.78 |
| 197 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.78 |
| 198 | Phakomatosis cesioflammea | Enrichment | GNAQ | 1.78 |
| 199 | Wooly hair nevus | Enrichment | HRAS | 1.78 |
| 200 | Pancreatic cancer | Enrichment | CDKN2A, KRAS | 1.75 |
| 201 | Microcephaly | Enrichment | CTNNB1, MAPK1, PTPN11, TCF4 | 1.72 |
| 202 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 1.71 |
| 203 | Prostate cancer | Enrichment | CDH1, PIK3CA | 1.62 |
| 204 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.61 |
| 205 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.61 |
| 206 | Alagille syndrome 1 | Enrichment | JAG1 | 1.61 |
| 207 | Polycythemia vera | Enrichment | JAK2 | 1.61 |
| 208 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.61 |
| 209 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | Enrichment | SLC9A3 | 1.61 |
| 210 | Nuchal bleb, familial | Enrichment | SOS1 | 1.61 |
| 211 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.61 |
| 212 | Transposition of the great arteries, dextro-looped | Enrichment | BMP2 | 1.61 |
| 213 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 1.61 |
| 214 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.61 |
| 215 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.61 |
| 216 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.61 |
| 217 | Anus, imperforate | Enrichment | CTNNB1 | 1.61 |
| 218 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.61 |
| 219 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.61 |
| 220 | Desmoid tumor | Enrichment | CTNNB1 | 1.61 |
| 221 | Hyper ige syndrome | Enrichment | STAT3 | 1.61 |
| 222 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.61 |
| 223 | Testicular germ cell cancer | Enrichment | KIT | 1.61 |
| 224 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.61 |
| 225 | Spermatocytoma | Enrichment | HRAS | 1.61 |
| 226 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.61 |
| 227 | Melanoma of soft tissue | Enrichment | CREB1 | 1.61 |
| 228 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.61 |
| 229 | Anastomosing haemangioma | Enrichment | GNAQ | 1.61 |
| 230 | Keratoacanthoma | Enrichment | PIK3CA | 1.61 |
| 231 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.49 |
| 232 | Brachydactyly, type a2 | Enrichment | BMP2 | 1.49 |
| 233 | Budd-chiari syndrome | Enrichment | JAK2 | 1.49 |
| 234 | Lipodystrophy, familial partial, type 3 | Enrichment | PPARG | 1.49 |
| 235 | Pitt-hopkins syndrome | Enrichment | TCF4 | 1.49 |
| 236 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.49 |
| 237 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.49 |
| 238 | Pilomatrixoma | Enrichment | CTNNB1 | 1.49 |
| 239 | Leptin deficiency or dysfunction | Enrichment | PPARG | 1.49 |
| 240 | Alazami syndrome | Enrichment | CTNNB1 | 1.49 |
| 241 | Mantle cell lymphoma | Enrichment | CCND1 | 1.49 |
| 242 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.49 |
| 243 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS | 1.49 |
| 244 | Cerebrovascular disease | Enrichment | PIK3CA | 1.49 |
| 245 | Craniopharyngioma | Enrichment | CTNNB1 | 1.49 |
| 246 | Pilocytic astrocytoma | Enrichment | KRAS | 1.49 |
| 247 | Epidermolytic nevus | Enrichment | HRAS | 1.49 |
| 248 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.49 |
| 249 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | KIT | 1.49 |
| 250 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.49 |
| 251 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 1.49 |
| 252 | Middle aortic syndrome | Enrichment | JAG1 | 1.49 |
| 253 | Gingival fibromatosis | Enrichment | SOS1 | 1.49 |
| 254 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1 | 1.49 |
| 255 | Lymphoma, mucosa-associated lymphoid type | Enrichment | BIRC3 | 1.39 |
| 256 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.39 |
| 257 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.39 |
| 258 | Rhabdomyosarcoma 2 | Enrichment | FOXO1 | 1.39 |
| 259 | Ventricular septal defect 1 | Enrichment | BMP2 | 1.39 |
| 260 | Cholangitis, primary sclerosing | Enrichment | TCF4 | 1.39 |
| 261 | Fuchs' endothelial dystrophy | Enrichment | TCF4 | 1.39 |
| 262 | Lymphoma | Enrichment | PTPN11 | 1.39 |
| 263 | Acute myeloid leukemia with maturation | Enrichment | KIT | 1.39 |
| 264 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.39 |
| 265 | Histiocytoid hemangioma | Enrichment | FOS | 1.39 |
| 266 | Hemimegalencephaly | Enrichment | PIK3CA | 1.39 |
| 267 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | KIT | 1.39 |
| 268 | Type 2 diabetes mellitus | Enrichment | IRS1, PPARG | 1.33 |
| 269 | Atrial septal defect 1 | Enrichment | BMP2 | 1.31 |
| 270 | Li-fraumeni syndrome | Enrichment | CDKN2A | 1.31 |
| 271 | Melanoma, uveal | Enrichment | GNAQ | 1.31 |
| 272 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.31 |
| 273 | Testicular germ cell tumor | Enrichment | KIT | 1.31 |
| 274 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.31 |
| 275 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.31 |
| 276 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.25 |
| 277 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.25 |
| 278 | Gastrointestinal stromal tumor | Enrichment | KIT | 1.25 |
| 279 | Leukemia, chronic myeloid | Enrichment | KRAS | 1.25 |
| 280 | Essential thrombocythemia | Enrichment | JAK2 | 1.25 |
| 281 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.25 |
| 282 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.25 |
| 283 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.25 |
| 284 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A | 1.25 |
| 285 | Thrombocytopenia | Enrichment | PTPN11, SRC | 1.22 |
| 286 | Spastic paraplegia 4, autosomal dominant | Enrichment | TCF4 | 1.19 |
| 287 | Hemochromatosis, type 1 | Enrichment | BMP2 | 1.19 |
| 288 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.19 |
| 289 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.19 |
| 290 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.14 |
| 291 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.14 |
| 292 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.14 |
| 293 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.14 |
| 294 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1, KRAS | 1.12 |
| 295 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.10 |
| 296 | Stroke, ischemic | Enrichment | PRKCH | 1.10 |
| 297 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.10 |
| 298 | Melanoma | Enrichment | CDKN2A | 1.10 |
| 299 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.10 |
| 300 | Pectus excavatum | Enrichment | PTPN11 | 1.06 |
| 301 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.06 |
| 302 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.02 |
| 303 | Aortic valve disease 1 | Enrichment | SOS1 | 0.99 |
| 304 | Neural tube defects | Enrichment | ITGB1 | 0.99 |
| 305 | Acute promyelocytic leukemia | Enrichment | STAT3 | 0.99 |
| 306 | Stereotypic movement disorder | Enrichment | TCF4 | 0.99 |
| 307 | Osteoporosis | Enrichment | SRC | 0.96 |
| 308 | Medulloblastoma | Enrichment | CTNNB1 | 0.96 |
| 309 | Cleft lip/palate | Enrichment | CDH1 | 0.96 |
| 310 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 0.96 |
| 311 | Rhabdomyosarcoma | Enrichment | HRAS | 0.91 |
| 312 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A | 0.88 |
| 313 | Polycystic liver disease | Enrichment | CTNNB1 | 0.88 |
| 314 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 0.88 |
| 315 | Patent foramen ovale | Enrichment | PTPN11 | 0.86 |
| 316 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.74 |
| 317 | Scoliosis | Enrichment | PTPN11 | 0.74 |
| 318 | Tetralogy of fallot | Enrichment | JAG1 | 0.71 |
| 319 | Strabismus | Enrichment | PTPN11 | 0.70 |
| 320 | Long qt syndrome 1 | Enrichment | PTPN11 | 0.66 |
| 321 | Cystic fibrosis | Enrichment | SLC9A3 | 0.63 |
| 322 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.62 |
| 323 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.62 |
| 324 | Left ventricular noncompaction | Enrichment | RAF1 | 0.60 |
| 325 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.52 |
| 326 | Body mass index quantitative trait locus 11 | Enrichment | PPARG | 0.47 |
| 327 | Autosomal dominant non-syndromic intellectual disability | Enrichment | TCF4 | 0.47 |
| 328 | Hypertelorism | Enrichment | PIK3CA | 0.46 |
| 329 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.45 |
| 330 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.43 |
| 331 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MEF2C | 0.42 |
| 332 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.41 |
| 333 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.31 |
| 334 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.23 |
| 335 | Nervous system disease | Enrichment | CTNNB1 | 0.23 |
| 336 | Hereditary retinal dystrophy | Enrichment | JAG1 | 0.04 |
| 337 | Fundus dystrophy | Enrichment | JAG1 | 0.04 |