| 1 | Lung non-small cell carcinoma | Enrichment | BRAF, EGFR, ERBB2, MAP2K1, PIK3CA | 9.07 |
| 2 | Bladder cancer | Enrichment | EGFR, ERBB2, ERBB3, PIK3CA, TP53 | 6.70 |
| 3 | Lip and oral cavity carcinoma | Enrichment | BRAF, EGFR, PIK3CA, TP53 | 6.69 |
| 4 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 6.53 |
| 5 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, MAP2K1, MAP2K2 | 6.42 |
| 6 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, MAP2K1, MAP2K2 | 6.42 |
| 7 | Lung cancer susceptibility 3 | Enrichment | BRAF, EGFR, ERBB2, TP53 | 6.39 |
| 8 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, MAP2K1, MAP2K2, RAF1 | 6.26 |
| 9 | Colorectal cancer | Enrichment | BRAF, ERBB2, PIK3CA, PIK3R1, SRC, TP53 | 5.53 |
| 10 | Gallbladder cancer | Enrichment | BRAF, PIK3CA, TP53 | 5.48 |
| 11 | Noonan syndrome 1 | Enrichment | BRAF, MAP2K1, MAP2K2, RAF1 | 5.46 |
| 12 | Rasopathy | Enrichment | BRAF, MAP2K1, MAP2K2, RAF1 | 5.23 |
| 13 | Lung cancer | Enrichment | BRAF, EGFR, ERBB2, PIK3CA | 4.86 |
| 14 | Breast cancer | Enrichment | AKT1, CASP8, IL2, JUN, PIK3CA | 4.78 |
| 15 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG, NFKBIA | 4.75 |
| 16 | Gastric cancer | Enrichment | ERBB2, IL1B, PIK3CA, TP53 | 4.34 |
| 17 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.27 |
| 18 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.27 |
| 19 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.27 |
| 20 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 4.20 |
| 21 | Diffuse large b-cell lymphoma | Enrichment | BRAF, STAT3, TP53 | 4.06 |
| 22 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.97 |
| 23 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF, TP53 | 3.90 |
| 24 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 3.90 |
| 25 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA | 3.75 |
| 26 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.57 |
| 27 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 3.50 |
| 28 | Lung squamous cell carcinoma | Enrichment | EGFR, PIK3CA | 3.50 |
| 29 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 3.43 |
| 30 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 3.43 |
| 31 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, TP53 | 3.36 |
| 32 | Pilomyxoid astrocytoma | Enrichment | BRAF, RAF1 | 3.36 |
| 33 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, RAF1 | 3.23 |
| 34 | Glioma susceptibility 1 | Enrichment | ERBB2, TP53 | 3.23 |
| 35 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF, TP53 | 3.23 |
| 36 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA | 3.20 |
| 37 | Adult hepatocellular carcinoma | Enrichment | CASP8, PIK3CA | 3.20 |
| 38 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.20 |
| 39 | Primary hyperaldosteronism | Enrichment | BRAF, TP53 | 3.13 |
| 40 | Ventricular septal defect | Enrichment | BRAF, RPS6KA3 | 3.13 |
| 41 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA | 3.10 |
| 42 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.10 |
| 43 | Meningioma | Enrichment | AKT1, PIK3CA | 2.94 |
| 44 | Ovarian cancer | Enrichment | EGFR, ERBB2, PIK3CA, TP53 | 2.91 |
| 45 | Nk-cell enteropathy | Enrichment | ERBB4, PIK3CB | 2.80 |
| 46 | Myeloma, multiple | Enrichment | BRAF, PIK3R2, TP53 | 2.65 |
| 47 | Gliosarcoma | Enrichment | EGFR, TP53 | 2.61 |
| 48 | Giant cell glioblastoma | Enrichment | EGFR, TP53 | 2.56 |
| 49 | Arteriovenous malformations of the brain | Enrichment | BRAF, EGFR | 2.46 |
| 50 | Hepatocellular carcinoma | Enrichment | CASP8, PIK3CA | 2.41 |
| 51 | Multisystem inflammatory syndrome in children | Enrichment | TLR3, TLR6 | 2.41 |
| 52 | Macrodactyly | Enrichment | PIK3CA | 2.37 |
| 53 | Proteus syndrome | Enrichment | AKT1 | 2.37 |
| 54 | Leprosy 3 | Enrichment | TLR2 | 2.37 |
| 55 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.37 |
| 56 | Incontinentia pigmenti | Enrichment | IKBKG | 2.37 |
| 57 | Type 1 diabetes mellitus 10 | Enrichment | IL2RA | 2.37 |
| 58 | Legionnaire disease | Enrichment | TLR5 | 2.37 |
| 59 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.37 |
| 60 | Caspase 8 deficiency | Enrichment | CASP8 | 2.37 |
| 61 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.37 |
| 62 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.37 |
| 63 | Immunodeficiency 83 viral infections | Enrichment | TLR3 | 2.37 |
| 64 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.37 |
| 65 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.37 |
| 66 | Leprosy 5 | Enrichment | TLR1 | 2.37 |
| 67 | Fetal encasement syndrome | Enrichment | CHUK | 2.37 |
| 68 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.37 |
| 69 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.37 |
| 70 | Immunodeficiency 15b | Enrichment | IKBKB | 2.37 |
| 71 | Immunodeficiency 15a | Enrichment | IKBKB | 2.37 |
| 72 | Short syndrome | Enrichment | PIK3R1 | 2.37 |
| 73 | Immunodeficiency 74, covid19-related, x-linked | Enrichment | TLR7 | 2.37 |
| 74 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.37 |
| 75 | Systemic lupus erythematosus 1 | Enrichment | TLR5 | 2.37 |
| 76 | X-linked immunodeficiency 74 | Enrichment | TLR7 | 2.37 |
| 77 | Oculoskeletodental syndrome | Enrichment | PIK3C2A | 2.37 |
| 78 | Systemic lupus erythematosus 17 | Enrichment | TLR7 | 2.37 |
| 79 | Chronic recurrent multifocal osteomyelitis 3 | Enrichment | IL1R1 | 2.37 |
| 80 | Allergic rhinitis | Enrichment | IL13 | 2.37 |
| 81 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.37 |
| 82 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.37 |
| 83 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.37 |
| 84 | Melorheostosis | Enrichment | MAP2K1 | 2.37 |
| 85 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.37 |
| 86 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.37 |
| 87 | Cowden syndrome 6 | Enrichment | AKT1 | 2.37 |
| 88 | Melioidosis | Enrichment | TLR5 | 2.37 |
| 89 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.37 |
| 90 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.37 |
| 91 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.37 |
| 92 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 2.37 |
| 93 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.37 |
| 94 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.37 |
| 95 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.37 |
| 96 | Hypospadias | Enrichment | PIK3CA | 2.37 |
| 97 | Capillary hemangioma | Enrichment | AKT3 | 2.37 |
| 98 | Rare venous malformation | Enrichment | PIK3CA | 2.37 |
| 99 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.37 |
| 100 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.37 |
| 101 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.37 |
| 102 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.37 |
| 103 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.37 |
| 104 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.37 |
| 105 | Oculocerebrodental syndrome | Enrichment | PIK3C2A | 2.37 |
| 106 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.37 |
| 107 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.37 |
| 108 | Macrodactyly of toe | Enrichment | PIK3CA | 2.37 |
| 109 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.37 |
| 110 | Erythroleukemia, familial | Enrichment | ERBB3 | 2.33 |
| 111 | Paget disease, extramammary | Enrichment | ERBB2 | 2.33 |
| 112 | Coffin-lowry syndrome | Enrichment | RPS6KA3 | 2.33 |
| 113 | Pallister-killian syndrome | Enrichment | ARAF | 2.33 |
| 114 | Noonan syndrome 5 | Enrichment | RAF1 | 2.33 |
| 115 | Noonan syndrome 7 | Enrichment | BRAF | 2.33 |
| 116 | Leopard syndrome 3 | Enrichment | BRAF | 2.33 |
| 117 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.33 |
| 118 | Lethal congenital contracture syndrome 2 | Enrichment | ERBB3 | 2.33 |
| 119 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.33 |
| 120 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.33 |
| 121 | Papilloma of choroid plexus | Enrichment | TP53 | 2.33 |
| 122 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.33 |
| 123 | Intellectual developmental disorder, x-linked 19 | Enrichment | RPS6KA3 | 2.33 |
| 124 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.33 |
| 125 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.33 |
| 126 | Lymphangioma | Enrichment | BRAF | 2.33 |
| 127 | Phace association | Enrichment | BRAF | 2.33 |
| 128 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.33 |
| 129 | Leopard syndrome 2 | Enrichment | RAF1 | 2.33 |
| 130 | Immunodeficiency 31a | Enrichment | STAT1 | 2.33 |
| 131 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 2.33 |
| 132 | Immunodeficiency 31b | Enrichment | STAT1 | 2.33 |
| 133 | Ductal carcinoma in situ | Enrichment | TP53 | 2.33 |
| 134 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.33 |
| 135 | Thrombocytopenia 6 | Enrichment | SRC | 2.33 |
| 136 | Trigonitis | Enrichment | RAF1 | 2.33 |
| 137 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.33 |
| 138 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.33 |
| 139 | Symptomatic form of coffin-lowry syndrome in female carriers | Enrichment | RPS6KA3 | 2.33 |
| 140 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.33 |
| 141 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.33 |
| 142 | Choroid plexus cancer | Enrichment | TP53 | 2.33 |
| 143 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.33 |
| 144 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.33 |
| 145 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.33 |
| 146 | Ganglioglioma | Enrichment | BRAF | 2.33 |
| 147 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.33 |
| 148 | Phace syndrome | Enrichment | BRAF | 2.33 |
| 149 | Classic hairy cell leukemia | Enrichment | BRAF | 2.33 |
| 150 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.33 |
| 151 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.33 |
| 152 | Hirschsprung disease 1 | Enrichment | ERBB2, ERBB3 | 2.10 |
| 153 | Prostate cancer | Enrichment | PIK3CA, TP53 | 2.10 |
| 154 | Scoliosis, isolated 1 | Enrichment | MAPK7 | 2.07 |
| 155 | Immunodeficiency 33 | Enrichment | IKBKG | 2.07 |
| 156 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 2.07 |
| 157 | Immunodeficiency 41 with lymphoproliferation and autoimmunity | Enrichment | IL2RA | 2.07 |
| 158 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.07 |
| 159 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.07 |
| 160 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.07 |
| 161 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.07 |
| 162 | Spermatogenic failure 17 | Enrichment | PIK3C2G | 2.07 |
| 163 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.07 |
| 164 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 2.07 |
| 165 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.07 |
| 166 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.07 |
| 167 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.07 |
| 168 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.07 |
| 169 | Leprosy 1 | Enrichment | TLR6 | 2.07 |
| 170 | Immune system disease | Enrichment | PIK3CD | 2.07 |
| 171 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.07 |
| 172 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.07 |
| 173 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.07 |
| 174 | Tafro syndrome | Enrichment | MAP2K2 | 2.07 |
| 175 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.03 |
| 176 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | ERBB3 | 2.03 |
| 177 | Cervical cancer | Enrichment | TP53 | 2.03 |
| 178 | Pulmonic stenosis | Enrichment | BRAF | 2.03 |
| 179 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.03 |
| 180 | Immunodeficiency 31c | Enrichment | STAT1 | 2.03 |
| 181 | Congenital fibrosarcoma | Enrichment | TP53 | 2.03 |
| 182 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.03 |
| 183 | Sarcoma | Enrichment | TP53 | 2.03 |
| 184 | Cervix carcinoma | Enrichment | TP53 | 2.03 |
| 185 | Hodgkin's lymphoma | Enrichment | TP53 | 2.03 |
| 186 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.03 |
| 187 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.89 |
| 188 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | TLR8 | 1.89 |
| 189 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 1.89 |
| 190 | Keratoacanthoma | Enrichment | PIK3CA | 1.89 |
| 191 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.86 |
| 192 | Ataxia-telangiectasia | Enrichment | BRAF | 1.86 |
| 193 | Osteogenic sarcoma | Enrichment | TP53 | 1.86 |
| 194 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.86 |
| 195 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.86 |
| 196 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 1.86 |
| 197 | Hyper ige syndrome | Enrichment | STAT3 | 1.86 |
| 198 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.86 |
| 199 | Anaplastic astrocytoma | Enrichment | TP53 | 1.86 |
| 200 | Squamous cell carcinoma | Enrichment | TP53 | 1.86 |
| 201 | Adenocarcinoma | Enrichment | TP53 | 1.86 |
| 202 | Bone osteosarcoma | Enrichment | TP53 | 1.86 |
| 203 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.86 |
| 204 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 1.82 |
| 205 | Anemia, autoimmune hemolytic | Enrichment | TLR8 | 1.77 |
| 206 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.77 |
| 207 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.77 |
| 208 | Cerebrovascular disease | Enrichment | PIK3CA | 1.77 |
| 209 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.77 |
| 210 | Small cell cancer of the lung | Enrichment | TP53 | 1.73 |
| 211 | Retinitis pigmentosa 26 | Enrichment | ITGA4 | 1.73 |
| 212 | Barrett esophagus | Enrichment | ERBB2 | 1.73 |
| 213 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.73 |
| 214 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.73 |
| 215 | Hereditary ataxia | Enrichment | PRKCG | 1.73 |
| 216 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.73 |
| 217 | Craniopharyngioma | Enrichment | BRAF | 1.73 |
| 218 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.73 |
| 219 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.67 |
| 220 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.67 |
| 221 | Herpes simplex virus encephalitis | Enrichment | TLR3 | 1.67 |
| 222 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.64 |
| 223 | Lymphoma | Enrichment | TP53 | 1.64 |
| 224 | Histiocytoid hemangioma | Enrichment | FOS | 1.64 |
| 225 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.64 |
| 226 | Hypertelorism | Enrichment | PIK3CA, RPS6KA3 | 1.62 |
| 227 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.60 |
| 228 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.60 |
| 229 | Li-fraumeni syndrome | Enrichment | TP53 | 1.56 |
| 230 | Wilms tumor 5 | Enrichment | BRAF | 1.56 |
| 231 | Adrenocortical carcinoma | Enrichment | TP53 | 1.56 |
| 232 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.56 |
| 233 | Nevus, epidermal | Enrichment | PIK3CA | 1.53 |
| 234 | Megacolon | Enrichment | AKT3 | 1.53 |
| 235 | Oligoarticular juvenile idiopathic arthritis | Enrichment | IL2RA | 1.53 |
| 236 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.53 |
| 237 | Rheumatoid factor-negative juvenile idiopathic arthritis | Enrichment | IL2RA | 1.53 |
| 238 | Esophageal cancer | Enrichment | TP53 | 1.49 |
| 239 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF | 1.49 |
| 240 | Myelofibrosis | Enrichment | SRC | 1.49 |
| 241 | Noonan syndrome 3 | Enrichment | RAF1 | 1.49 |
| 242 | Essential thrombocythemia | Enrichment | TP53 | 1.49 |
| 243 | Follicular thyroid carcinoma | Enrichment | BRAF | 1.49 |
| 244 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.49 |
| 245 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.47 |
| 246 | Gastroesophageal reflux | Enrichment | RPS6KA3 | 1.44 |
| 247 | Orthostatic intolerance | Enrichment | RPS6KA3 | 1.44 |
| 248 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.44 |
| 249 | Rheumatoid arthritis | Enrichment | TLR1 | 1.42 |
| 250 | Coronary heart disease 5 | Enrichment | IKBKG | 1.42 |
| 251 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.39 |
| 252 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.38 |
| 253 | Polymicrogyria | Enrichment | AKT3 | 1.38 |
| 254 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.34 |
| 255 | Melanoma | Enrichment | BRAF | 1.34 |
| 256 | Familial colorectal cancer | Enrichment | TP53 | 1.34 |
| 257 | Asthma | Enrichment | IL13 | 1.34 |
| 258 | Myelodysplastic syndrome | Enrichment | TP53 | 1.30 |
| 259 | Specific learning disability | Enrichment | RPS6KA3 | 1.30 |
| 260 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 1.27 |
| 261 | Neural tube defects | Enrichment | ITGB1 | 1.23 |
| 262 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.23 |
| 263 | Lynch syndrome | Enrichment | PIK3CA | 1.21 |
| 264 | Osteoporosis | Enrichment | SRC | 1.20 |
| 265 | Isolated macular dystrophy | Enrichment | ITGA4 | 1.20 |
| 266 | Wilms tumor 1 | Enrichment | BRAF | 1.17 |
| 267 | Rhabdomyosarcoma | Enrichment | TP53 | 1.14 |
| 268 | Human immunodeficiency virus type 1 | Enrichment | TLR3 | 1.13 |
| 269 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.12 |
| 270 | Dandy-walker syndrome | Enrichment | BRAF | 1.12 |
| 271 | Behcet syndrome | Enrichment | TLR4 | 1.11 |
| 272 | Endometrial cancer | Enrichment | PIK3CA | 1.06 |
| 273 | Hepatoblastoma | Enrichment | TP53 | 1.03 |
| 274 | Malaria | Enrichment | IKBKG | 1.03 |
| 275 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.99 |
| 276 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.98 |
| 277 | Pancreatic cancer | Enrichment | TP53 | 0.96 |
| 278 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, TP53 | 0.90 |
| 279 | Severe covid-19 | Enrichment | ITGAV | 0.90 |
| 280 | Differentiated thyroid carcinoma | Enrichment | BRAF | 0.90 |
| 281 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.88 |
| 282 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.85 |
| 283 | Left ventricular noncompaction | Enrichment | RAF1 | 0.82 |
| 284 | Systemic lupus erythematosus | Enrichment | TLR7 | 0.81 |
| 285 | Non-syndromic x-linked intellectual disability | Enrichment | RPS6KA3 | 0.81 |
| 286 | Diamond-blackfan anemia | Enrichment | TP53 | 0.81 |
| 287 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.78 |
| 288 | Leukemia, acute myeloid | Enrichment | TP53 | 0.77 |
| 289 | Thrombocytopenia | Enrichment | SRC | 0.70 |
| 290 | Autosomal dominant non-syndromic intellectual disability | Enrichment | ERBB4 | 0.68 |
| 291 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.66 |
| 292 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.65 |
| 293 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4 | 0.63 |
| 294 | Cone-rod dystrophy 2 | Enrichment | ITGA4 | 0.57 |
| 295 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.43 |
| 296 | Hereditary retinal dystrophy | Enrichment | ITGA4 | 0.13 |
| 297 | Fundus dystrophy | Enrichment | ITGA4 | 0.13 |