| 1 | Rasopathy | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS2 | 11.25 |
| 2 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS2 | 10.79 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1 | 10.69 |
| 4 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, KRAS, MAP2K1, NRAS, PIK3CA | 10.61 |
| 5 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 9.26 |
| 6 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 9.26 |
| 7 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | CEBPA, FLT3, KIT, RUNX1T1 | 8.59 |
| 8 | Acute promyelocytic leukemia | Enrichment | PML, RARA, STAT3, STAT5B, ZBTB16 | 8.53 |
| 9 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 7.75 |
| 10 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1, SOS1 | 7.75 |
| 11 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, NRAS, RAF1 | 7.45 |
| 12 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 6.96 |
| 13 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS, KIT, PIK3CA | 6.61 |
| 14 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 6.36 |
| 15 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 6.36 |
| 16 | Hemimegalencephaly | Enrichment | AKT3, MTOR, PIK3CA | 5.96 |
| 17 | Leukemia, acute myeloid | Enrichment | CEBPA, FLT3, KIT, KRAS, NRAS | 5.87 |
| 18 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA | 5.66 |
| 19 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS | 5.42 |
| 20 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1, PIK3CA | 5.42 |
| 21 | Gallbladder cancer | Enrichment | BRAF, KRAS, PIK3CA | 5.42 |
| 22 | Pilomyxoid astrocytoma | Enrichment | BRAF, KRAS, RAF1 | 5.42 |
| 23 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS | 5.42 |
| 24 | Colorectal cancer | Enrichment | AKT1, BRAF, CCND1, NRAS, PIK3CA, PIK3R1 | 5.41 |
| 25 | Myeloma, multiple | Enrichment | BRAF, CCND1, FLT3, KRAS, PIK3R2 | 5.13 |
| 26 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA | 5.04 |
| 27 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS, KRAS, NRAS | 4.96 |
| 28 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA | 4.89 |
| 29 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1, SPI1 | 4.89 |
| 30 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 4.63 |
| 31 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.63 |
| 32 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.16 |
| 33 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.16 |
| 34 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.16 |
| 35 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.16 |
| 36 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.86 |
| 37 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.86 |
| 38 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 3.86 |
| 39 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | FLT3, KIT | 3.86 |
| 40 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | FLT3, MYC, ZBTB16 | 3.74 |
| 41 | Acute myeloid leukemia with maturation | Enrichment | FLT3, KIT | 3.64 |
| 42 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 3.46 |
| 43 | Bladder cancer | Enrichment | HRAS, KRAS, PIK3CA | 3.44 |
| 44 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.32 |
| 45 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.32 |
| 46 | Lung cancer | Enrichment | BRAF, KRAS, PIK3CA | 3.31 |
| 47 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.09 |
| 48 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PIK3CA | 2.90 |
| 49 | Ovarian cancer | Enrichment | AKT1, KIT, KRAS, PIK3CA | 2.83 |
| 50 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 2.83 |
| 51 | Meningioma | Enrichment | AKT1, PIK3CA | 2.83 |
| 52 | Alzheimer's disease | Enrichment | CSF1R, MPO | 2.76 |
| 53 | Nk-cell enteropathy | Enrichment | PIK3CB, RUNX1T1 | 2.76 |
| 54 | Lung cancer susceptibility 3 | Enrichment | BRAF, KRAS | 2.69 |
| 55 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 2.63 |
| 56 | Alzheimer disease, familial, 1 | Enrichment | CSF1R, MPO | 2.52 |
| 57 | Arteriovenous malformations of the brain | Enrichment | BRAF, KRAS | 2.42 |
| 58 | Diffuse large b-cell lymphoma | Enrichment | BRAF, STAT3 | 2.42 |
| 59 | Macrodactyly | Enrichment | PIK3CA | 2.31 |
| 60 | Proteus syndrome | Enrichment | AKT1 | 2.31 |
| 61 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.31 |
| 62 | Oculoectodermal syndrome | Enrichment | KRAS | 2.31 |
| 63 | Incontinentia pigmenti | Enrichment | IKBKG | 2.31 |
| 64 | Systemic lupus erythematosus 6 | Enrichment | ITGAM | 2.31 |
| 65 | Immunodeficiency 108 with autoinflammation | Enrichment | CEBPE | 2.31 |
| 66 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.31 |
| 67 | Arrhythmogenic right ventricular dysplasia, familial, 12 | Enrichment | JUP | 2.31 |
| 68 | Noonan syndrome 5 | Enrichment | RAF1 | 2.31 |
| 69 | Noonan syndrome 4 | Enrichment | SOS1 | 2.31 |
| 70 | Mastocytosis, cutaneous | Enrichment | KIT | 2.31 |
| 71 | Advanced sleep phase syndrome, familial, 1 | Enrichment | PER2 | 2.31 |
| 72 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.31 |
| 73 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.31 |
| 74 | Noonan syndrome 7 | Enrichment | BRAF | 2.31 |
| 75 | Leopard syndrome 3 | Enrichment | BRAF | 2.31 |
| 76 | Skeletal defects, genital hypoplasia, and impaired intellectual development | Enrichment | ZBTB16 | 2.31 |
| 77 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.31 |
| 78 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.31 |
| 79 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.31 |
| 80 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.31 |
| 81 | Noonan syndrome 9 | Enrichment | SOS2 | 2.31 |
| 82 | Noonan syndrome 6 | Enrichment | NRAS | 2.31 |
| 83 | Fetal encasement syndrome | Enrichment | CHUK | 2.31 |
| 84 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.31 |
| 85 | Naxos disease | Enrichment | JUP | 2.31 |
| 86 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.31 |
| 87 | Immunodeficiency 15b | Enrichment | IKBKB | 2.31 |
| 88 | Agammaglobulinemia 10, autosomal dominant | Enrichment | SPI1 | 2.31 |
| 89 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.31 |
| 90 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.31 |
| 91 | Immunodeficiency 15a | Enrichment | IKBKB | 2.31 |
| 92 | Short syndrome | Enrichment | PIK3R1 | 2.31 |
| 93 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.31 |
| 94 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.31 |
| 95 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.31 |
| 96 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.31 |
| 97 | Lymphangioma | Enrichment | BRAF | 2.31 |
| 98 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.31 |
| 99 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.31 |
| 100 | Phace association | Enrichment | BRAF | 2.31 |
| 101 | Melorheostosis | Enrichment | MAP2K1 | 2.31 |
| 102 | Leopard syndrome 2 | Enrichment | RAF1 | 2.31 |
| 103 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.31 |
| 104 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.31 |
| 105 | Cowden syndrome 6 | Enrichment | AKT1 | 2.31 |
| 106 | Hypogonadotropic hypogonadism 19 with or without anosmia | Enrichment | DUSP6 | 2.31 |
| 107 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.31 |
| 108 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.31 |
| 109 | Acute myeloid leukemia with minimal differentiation | Enrichment | FLT3 | 2.31 |
| 110 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.31 |
| 111 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.31 |
| 112 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | Enrichment | CSF1R | 2.31 |
| 113 | Chronic mast cell leukemia | Enrichment | KIT | 2.31 |
| 114 | Trigonitis | Enrichment | RAF1 | 2.31 |
| 115 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.31 |
| 116 | Csf1r-related disorder | Enrichment | CSF1R | 2.31 |
| 117 | Hypospadias | Enrichment | PIK3CA | 2.31 |
| 118 | Capillary hemangioma | Enrichment | AKT3 | 2.31 |
| 119 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.31 |
| 120 | Agammaglobulinemia | Enrichment | SPI1 | 2.31 |
| 121 | Isolated bone marrow mastocytosis | Enrichment | KIT | 2.31 |
| 122 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.31 |
| 123 | Smoldering systemic mastocytosis | Enrichment | KIT | 2.31 |
| 124 | Cebpe-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome | Enrichment | CEBPE | 2.31 |
| 125 | Rare venous malformation | Enrichment | PIK3CA | 2.31 |
| 126 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.31 |
| 127 | Acute myeloid leukemia with mutated cebpa | Enrichment | CEBPA | 2.31 |
| 128 | Mastocytosis | Enrichment | KIT | 2.31 |
| 129 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.31 |
| 130 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.31 |
| 131 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.31 |
| 132 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | Enrichment | CSF1R | 2.31 |
| 133 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.31 |
| 134 | Ganglioglioma | Enrichment | BRAF | 2.31 |
| 135 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.31 |
| 136 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.31 |
| 137 | Cutaneous mastocytoma | Enrichment | KIT | 2.31 |
| 138 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.31 |
| 139 | Phace syndrome | Enrichment | BRAF | 2.31 |
| 140 | Typical urticaria pigmentosa | Enrichment | KIT | 2.31 |
| 141 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.31 |
| 142 | Classic hairy cell leukemia | Enrichment | BRAF | 2.31 |
| 143 | Nodular urticaria pigmentosa | Enrichment | KIT | 2.31 |
| 144 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.31 |
| 145 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.31 |
| 146 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 2.31 |
| 147 | Acute mast cell leukemia | Enrichment | KIT | 2.31 |
| 148 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.31 |
| 149 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.31 |
| 150 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 2.31 |
| 151 | Macrodactyly of toe | Enrichment | PIK3CA | 2.31 |
| 152 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.31 |
| 153 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.31 |
| 154 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.31 |
| 155 | Testis seminoma | Enrichment | KIT | 2.31 |
| 156 | Breast cancer | Enrichment | AKT1, KRAS, PIK3CA | 2.24 |
| 157 | Dilated cardiomyopathy | Enrichment | BRAF, JUP, RAF1 | 2.16 |
| 158 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 2.01 |
| 159 | Burkitt lymphoma | Enrichment | MYC | 2.01 |
| 160 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.01 |
| 161 | Costello syndrome | Enrichment | HRAS | 2.01 |
| 162 | Specific granule deficiency 1 | Enrichment | CEBPE | 2.01 |
| 163 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.01 |
| 164 | Immunodeficiency 33 | Enrichment | IKBKG | 2.01 |
| 165 | Piebald trait | Enrichment | KIT | 2.01 |
| 166 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.01 |
| 167 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.01 |
| 168 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.01 |
| 169 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.01 |
| 170 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.01 |
| 171 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.01 |
| 172 | Cebalid syndrome | Enrichment | MTOR | 2.01 |
| 173 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.01 |
| 174 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.01 |
| 175 | Split hand-foot malformation | Enrichment | LEF1 | 2.01 |
| 176 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.01 |
| 177 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG | 2.01 |
| 178 | Immune system disease | Enrichment | PIK3CD | 2.01 |
| 179 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.01 |
| 180 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.01 |
| 181 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.01 |
| 182 | Acute myeloid leukemia without maturation | Enrichment | FLT3 | 2.01 |
| 183 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 2.01 |
| 184 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 2.01 |
| 185 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.01 |
| 186 | Tafro syndrome | Enrichment | MAP2K2 | 2.01 |
| 187 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.01 |
| 188 | Specific granule deficiency | Enrichment | CEBPE | 2.01 |
| 189 | Wooly hair nevus | Enrichment | HRAS | 2.01 |
| 190 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.00 |
| 191 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.84 |
| 192 | Ataxia-telangiectasia | Enrichment | BRAF | 1.84 |
| 193 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.84 |
| 194 | Leukoencephalopathy, hereditary diffuse, with spheroids 1 | Enrichment | CSF1R | 1.84 |
| 195 | Nuchal bleb, familial | Enrichment | SOS1 | 1.84 |
| 196 | Epidermolysis bullosa, lethal acantholytic | Enrichment | JUP | 1.84 |
| 197 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.84 |
| 198 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 1.84 |
| 199 | Hyper ige syndrome | Enrichment | STAT3 | 1.84 |
| 200 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.84 |
| 201 | Testicular germ cell cancer | Enrichment | KIT | 1.84 |
| 202 | Spermatocytoma | Enrichment | HRAS | 1.84 |
| 203 | Advanced sleep phase syndrome | Enrichment | PER2 | 1.84 |
| 204 | Mixed phenotype acute leukemia with t | Enrichment | FLT3 | 1.84 |
| 205 | Keratoacanthoma | Enrichment | PIK3CA | 1.84 |
| 206 | Type 2 diabetes mellitus | Enrichment | AKT2, TCF7L2 | 1.75 |
| 207 | Gastric cancer | Enrichment | KRAS, PIK3CA | 1.73 |
| 208 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.71 |
| 209 | Myeloperoxidase deficiency | Enrichment | MPO | 1.71 |
| 210 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.71 |
| 211 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.71 |
| 212 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.71 |
| 213 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.71 |
| 214 | Mantle cell lymphoma | Enrichment | CCND1 | 1.71 |
| 215 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.71 |
| 216 | Chronic myelomonocytic leukemia | Enrichment | FLT3 | 1.71 |
| 217 | Cerebrovascular disease | Enrichment | PIK3CA | 1.71 |
| 218 | Craniopharyngioma | Enrichment | BRAF | 1.71 |
| 219 | Pilocytic astrocytoma | Enrichment | KRAS | 1.71 |
| 220 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.71 |
| 221 | Epidermolytic nevus | Enrichment | HRAS | 1.71 |
| 222 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.71 |
| 223 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 1.71 |
| 224 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.71 |
| 225 | Gingival fibromatosis | Enrichment | SOS1 | 1.71 |
| 226 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.71 |
| 227 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.62 |
| 228 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.62 |
| 229 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.62 |
| 230 | Inherited acute myeloid leukemia | Enrichment | CEBPA | 1.62 |
| 231 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.54 |
| 232 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.54 |
| 233 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.54 |
| 234 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.54 |
| 235 | Testicular germ cell tumor | Enrichment | KIT | 1.54 |
| 236 | Wilms tumor 5 | Enrichment | BRAF | 1.54 |
| 237 | Gastrointestinal stromal tumor | Enrichment | KIT | 1.47 |
| 238 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.47 |
| 239 | Alzheimer's disease 1 | Enrichment | MPO | 1.47 |
| 240 | Megacolon | Enrichment | AKT3 | 1.47 |
| 241 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.47 |
| 242 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 1.47 |
| 243 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.42 |
| 244 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.42 |
| 245 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.37 |
| 246 | Coronary heart disease 5 | Enrichment | IKBKG | 1.37 |
| 247 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | FLT3 | 1.37 |
| 248 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.37 |
| 249 | Primary hyperaldosteronism | Enrichment | BRAF | 1.37 |
| 250 | Ventricular septal defect | Enrichment | BRAF | 1.37 |
| 251 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.32 |
| 252 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.32 |
| 253 | Polymicrogyria | Enrichment | AKT3 | 1.32 |
| 254 | Melanoma | Enrichment | BRAF | 1.32 |
| 255 | Frontotemporal dementia 1 | Enrichment | CSF1R | 1.28 |
| 256 | Leukemia, acute lymphoblastic | Enrichment | FLT3 | 1.28 |
| 257 | Specific learning disability | Enrichment | MAPK1 | 1.28 |
| 258 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | JUP | 1.25 |
| 259 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | JUP | 1.25 |
| 260 | Aortic valve disease 1 | Enrichment | SOS1 | 1.21 |
| 261 | Protein-deficiency anemia | Enrichment | NRAS | 1.21 |
| 262 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | JUP | 1.18 |
| 263 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.18 |
| 264 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.15 |
| 265 | Wilms tumor 1 | Enrichment | BRAF | 1.15 |
| 266 | Rare genetic intellectual disability | Enrichment | MTOR | 1.15 |
| 267 | Wolff-parkinson-white syndrome | Enrichment | JUP | 1.12 |
| 268 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | JUP | 1.12 |
| 269 | Rhabdomyosarcoma | Enrichment | HRAS | 1.12 |
| 270 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.10 |
| 271 | Dandy-walker syndrome | Enrichment | BRAF | 1.10 |
| 272 | Heart, malformation of | Enrichment | MAPK1 | 1.08 |
| 273 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | DUSP6 | 1.08 |
| 274 | Endometrial cancer | Enrichment | PIK3CA | 1.01 |
| 275 | Hepatocellular carcinoma | Enrichment | PIK3CA | 0.99 |
| 276 | Malaria | Enrichment | IKBKG | 0.97 |
| 277 | Kallmann syndrome | Enrichment | DUSP6 | 0.97 |
| 278 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.96 |
| 279 | Pancreatic cancer | Enrichment | KRAS | 0.94 |
| 280 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.92 |
| 281 | Prostate cancer | Enrichment | PIK3CA | 0.88 |
| 282 | Inherited cancer-predisposing syndrome | Enrichment | CEBPA, KIT | 0.87 |
| 283 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.83 |
| 284 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.83 |
| 285 | Left ventricular noncompaction | Enrichment | RAF1 | 0.80 |
| 286 | Systemic lupus erythematosus | Enrichment | ITGAM | 0.76 |
| 287 | Hypertelorism | Enrichment | PIK3CA | 0.65 |
| 288 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.64 |
| 289 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.63 |
| 290 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CSF1R | 0.61 |
| 291 | Autism | Enrichment | TCF7L2 | 0.53 |
| 292 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.38 |
| 293 | Microcephaly | Enrichment | MAPK1 | 0.34 |
| 294 | Complex neurodevelopmental disorder | Enrichment | TCF7L2 | 0.34 |