| 1 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, MRAS, NRAS, RRAS, RRAS2 | 8.62 |
| 2 | Rasopathy | Enrichment | HRAS, KRAS, MRAS, NRAS, RRAS2 | 6.54 |
| 3 | Lung non-small cell carcinoma | Enrichment | EGFR, HRAS, KRAS, NRAS | 6.54 |
| 4 | Bladder cancer | Enrichment | ATM, EGFR, HRAS, KRAS, TP53 | 6.29 |
| 5 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 6.17 |
| 6 | Glioma susceptibility 1 | Enrichment | H3-3A, H3C1, TP53 | 5.53 |
| 7 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 5.24 |
| 8 | Bryant-li-bhoj neurodevelopmental syndrome 2 | Enrichment | H3-3A, H3-3B | 4.84 |
| 9 | Myeloma, multiple | Enrichment | ATM, H3C1, KRAS, PIK3R2, TP53 | 4.83 |
| 10 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.51 |
| 11 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, RRAS | 4.45 |
| 12 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS, TP53 | 4.45 |
| 13 | Lung cancer susceptibility 3 | Enrichment | EGFR, KRAS, TP53 | 4.23 |
| 14 | Breast cancer | Enrichment | ATM, CASP8, JUN, KRAS, TP53 | 4.21 |
| 15 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS | 4.14 |
| 16 | Gliosarcoma | Enrichment | ATM, EGFR, TP53 | 4.05 |
| 17 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.03 |
| 18 | Adenocarcinoma | Enrichment | ATM, TP53 | 4.03 |
| 19 | Giant cell glioblastoma | Enrichment | ATM, EGFR, TP53 | 3.96 |
| 20 | Lung sarcomatoid carcinoma | Enrichment | KRAS, TP53 | 3.73 |
| 21 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.73 |
| 22 | Breast adenocarcinoma | Enrichment | AKT1, TP53 | 3.67 |
| 23 | Ovarian cancer | Enrichment | ATM, EGFR, KRAS, RRAS2, TP53 | 3.60 |
| 24 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, TP53 | 3.52 |
| 25 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.52 |
| 26 | Pancreatic cancer | Enrichment | ATM, KRAS, TP53 | 3.45 |
| 27 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS | 3.34 |
| 28 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 3.25 |
| 29 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 3.19 |
| 30 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.19 |
| 31 | Noonan syndrome 3 | Enrichment | HRAS, KRAS | 3.19 |
| 32 | Gallbladder cancer | Enrichment | KRAS, TP53 | 3.19 |
| 33 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 3.19 |
| 34 | Lung cancer | Enrichment | CASP8, EGFR, KRAS | 3.13 |
| 35 | Specific learning disability | Enrichment | MAPK1, RPS6KA3 | 3.11 |
| 36 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 3.07 |
| 37 | Adult hepatocellular carcinoma | Enrichment | CASP8, TP53 | 2.96 |
| 38 | Leukemia, chronic lymphocytic | Enrichment | ATM, TP53 | 2.87 |
| 39 | Colorectal cancer | Enrichment | ATM, NRAS, PIK3R1, TP53 | 2.85 |
| 40 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS, TP53 | 2.84 |
| 41 | Gastric cancer | Enrichment | ATM, KRAS, TP53 | 2.75 |
| 42 | Hereditary breast carcinoma | Enrichment | ATM, KRAS, TP53 | 2.72 |
| 43 | Rhabdomyosarcoma | Enrichment | HRAS, TP53 | 2.45 |
| 44 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, KRAS, TP53 | 2.44 |
| 45 | Proteus syndrome | Enrichment | AKT1 | 2.42 |
| 46 | Coffin-lowry syndrome | Enrichment | RPS6KA3 | 2.42 |
| 47 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.42 |
| 48 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.42 |
| 49 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.42 |
| 50 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.42 |
| 51 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.42 |
| 52 | Short syndrome | Enrichment | PIK3R1 | 2.42 |
| 53 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.42 |
| 54 | Papilloma of choroid plexus | Enrichment | TP53 | 2.42 |
| 55 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.42 |
| 56 | Autism 19 | Enrichment | EIF4E | 2.42 |
| 57 | Intellectual developmental disorder, x-linked 19 | Enrichment | RPS6KA3 | 2.42 |
| 58 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.42 |
| 59 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.42 |
| 60 | Melorheostosis | Enrichment | MAP2K1 | 2.42 |
| 61 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.42 |
| 62 | Cowden syndrome 6 | Enrichment | AKT1 | 2.42 |
| 63 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.42 |
| 64 | Ductal carcinoma in situ | Enrichment | TP53 | 2.42 |
| 65 | Congenital heart defects and ectodermal dysplasia | Enrichment | PRKD1 | 2.42 |
| 66 | Bryant-li-bhoj neurodevelopmental syndrome 1 | Enrichment | H3-3A | 2.42 |
| 67 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.42 |
| 68 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.42 |
| 69 | Symptomatic form of coffin-lowry syndrome in female carriers | Enrichment | RPS6KA3 | 2.42 |
| 70 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.42 |
| 71 | Choroid plexus cancer | Enrichment | TP53 | 2.42 |
| 72 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.42 |
| 73 | Malignant epithelial tumor of salivary glands | Enrichment | PRKD1 | 2.42 |
| 74 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 2.30 |
| 75 | Oculoectodermal syndrome | Enrichment | KRAS | 2.25 |
| 76 | Caspase 8 deficiency | Enrichment | CASP8 | 2.25 |
| 77 | Nail disorder, nonsyndromic congenital, 3 | Enrichment | PLCD1 | 2.25 |
| 78 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.25 |
| 79 | Noonan syndrome 6 | Enrichment | NRAS | 2.25 |
| 80 | Noonan syndrome 11 | Enrichment | MRAS | 2.25 |
| 81 | Spondylometaphyseal dysplasia with corneal dystrophy | Enrichment | PLCB3 | 2.25 |
| 82 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.25 |
| 83 | Auriculocondylar syndrome 2a | Enrichment | PLCB4 | 2.25 |
| 84 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.25 |
| 85 | Thrombocytopenia 4 | Enrichment | CYCS | 2.25 |
| 86 | Immunodeficiency 31a | Enrichment | STAT1 | 2.25 |
| 87 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.25 |
| 88 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.25 |
| 89 | Immunodeficiency 31b | Enrichment | STAT1 | 2.25 |
| 90 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.25 |
| 91 | Acid sphingomyelinase deficiency | Enrichment | SMPD1 | 2.25 |
| 92 | Auriculocondylar syndrome 2b | Enrichment | PLCB4 | 2.25 |
| 93 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.25 |
| 94 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.25 |
| 95 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.25 |
| 96 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.25 |
| 97 | Hepatocellular carcinoma | Enrichment | CASP8, TP53 | 2.18 |
| 98 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.12 |
| 99 | Cervical cancer | Enrichment | TP53 | 2.12 |
| 100 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 2.12 |
| 101 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.12 |
| 102 | Cebalid syndrome | Enrichment | MTOR | 2.12 |
| 103 | Congenital fibrosarcoma | Enrichment | TP53 | 2.12 |
| 104 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.12 |
| 105 | Sarcoma | Enrichment | TP53 | 2.12 |
| 106 | Cervix carcinoma | Enrichment | TP53 | 2.12 |
| 107 | Hodgkin's lymphoma | Enrichment | TP53 | 2.12 |
| 108 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.12 |
| 109 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.12 |
| 110 | Costello syndrome | Enrichment | HRAS | 1.95 |
| 111 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.95 |
| 112 | Spermatogenic failure 17 | Enrichment | PLCZ1 | 1.95 |
| 113 | Immunodeficiency 31c | Enrichment | STAT1 | 1.95 |
| 114 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 1.95 |
| 115 | Noonan syndrome 12 | Enrichment | RRAS2 | 1.95 |
| 116 | High grade glioma | Enrichment | ATM | 1.95 |
| 117 | Ocular melanoma | Enrichment | PLCB4 | 1.95 |
| 118 | T-cell prolymphocytic leukemia | Enrichment | ATM | 1.95 |
| 119 | Wooly hair nevus | Enrichment | HRAS | 1.95 |
| 120 | Prostate cancer | Enrichment | ATM, TP53 | 1.94 |
| 121 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.94 |
| 122 | Osteogenic sarcoma | Enrichment | TP53 | 1.94 |
| 123 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.94 |
| 124 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.94 |
| 125 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.94 |
| 126 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.94 |
| 127 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.94 |
| 128 | Anaplastic astrocytoma | Enrichment | TP53 | 1.94 |
| 129 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.94 |
| 130 | Squamous cell carcinoma | Enrichment | TP53 | 1.94 |
| 131 | Bone osteosarcoma | Enrichment | TP53 | 1.94 |
| 132 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.94 |
| 133 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 1.89 |
| 134 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 1.82 |
| 135 | Small cell cancer of the lung | Enrichment | TP53 | 1.82 |
| 136 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.82 |
| 137 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3R2 | 1.82 |
| 138 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.82 |
| 139 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.82 |
| 140 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.82 |
| 141 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.82 |
| 142 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 1.82 |
| 143 | Hereditary ataxia | Enrichment | PRKCG | 1.82 |
| 144 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.82 |
| 145 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.82 |
| 146 | Ataxia-telangiectasia | Enrichment | ATM | 1.78 |
| 147 | Polycythemia vera | Enrichment | ATM | 1.78 |
| 148 | Niemann-pick disease, type a | Enrichment | SMPD1 | 1.78 |
| 149 | Niemann-pick disease, type b | Enrichment | SMPD1 | 1.78 |
| 150 | Nephrotic syndrome, type 3 | Enrichment | PLCE1 | 1.78 |
| 151 | Ceroid lipofuscinosis, neuronal, 6a | Enrichment | SMPD1 | 1.78 |
| 152 | Koolen-de vries syndrome | Enrichment | ATM | 1.78 |
| 153 | Spermatocytoma | Enrichment | HRAS | 1.78 |
| 154 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.72 |
| 155 | Lymphoma | Enrichment | TP53 | 1.72 |
| 156 | Histiocytoid hemangioma | Enrichment | FOS | 1.72 |
| 157 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.72 |
| 158 | Hemimegalencephaly | Enrichment | MTOR | 1.72 |
| 159 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.65 |
| 160 | Auriculocondylar syndrome 1 | Enrichment | PLCB4 | 1.65 |
| 161 | Developmental and epileptic encephalopathy 12 | Enrichment | PLCB1 | 1.65 |
| 162 | Mantle cell lymphoma | Enrichment | ATM | 1.65 |
| 163 | Pilocytic astrocytoma | Enrichment | KRAS | 1.65 |
| 164 | Epidermolytic nevus | Enrichment | HRAS | 1.65 |
| 165 | Oculomotor apraxia | Enrichment | ATM | 1.65 |
| 166 | Li-fraumeni syndrome | Enrichment | TP53 | 1.64 |
| 167 | Cowden syndrome 1 | Enrichment | EGFR | 1.64 |
| 168 | Adrenocortical carcinoma | Enrichment | TP53 | 1.64 |
| 169 | Esophageal cancer | Enrichment | TP53 | 1.58 |
| 170 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.58 |
| 171 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.58 |
| 172 | Essential thrombocythemia | Enrichment | TP53 | 1.58 |
| 173 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.58 |
| 174 | Niemann-pick disease, type c1 | Enrichment | SMPD1 | 1.56 |
| 175 | Glioblastoma | Enrichment | ATM | 1.56 |
| 176 | Niemann-pick disease | Enrichment | SMPD1 | 1.56 |
| 177 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 1.56 |
| 178 | Gastroesophageal reflux | Enrichment | RPS6KA3 | 1.52 |
| 179 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.52 |
| 180 | Orthostatic intolerance | Enrichment | RPS6KA3 | 1.52 |
| 181 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.52 |
| 182 | Melanoma, uveal | Enrichment | PLCB4 | 1.48 |
| 183 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.48 |
| 184 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.48 |
| 185 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.47 |
| 186 | Arteriovenous malformation | Enrichment | MAP2K1 | 1.47 |
| 187 | Primary hyperaldosteronism | Enrichment | TP53 | 1.47 |
| 188 | Ventricular septal defect | Enrichment | RPS6KA3 | 1.47 |
| 189 | Cowden syndrome | Enrichment | AKT1 | 1.47 |
| 190 | Stroke, ischemic | Enrichment | PRKCH | 1.42 |
| 191 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1 | 1.42 |
| 192 | Familial colorectal cancer | Enrichment | TP53 | 1.42 |
| 193 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.42 |
| 194 | Inherited cancer-predisposing syndrome | Enrichment | ATM, EGFR, TP53 | 1.42 |
| 195 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.41 |
| 196 | Myelodysplastic syndrome | Enrichment | TP53 | 1.38 |
| 197 | Meningioma | Enrichment | AKT1 | 1.35 |
| 198 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.31 |
| 199 | Nephrotic syndrome, type 1 | Enrichment | PLCE1 | 1.31 |
| 200 | Developmental and epileptic encephalopathy 14 | Enrichment | PLCB1 | 1.31 |
| 201 | Colonic benign neoplasm | Enrichment | ATM | 1.31 |
| 202 | Lynch syndrome 1 | Enrichment | ATM | 1.26 |
| 203 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.25 |
| 204 | Rare genetic intellectual disability | Enrichment | MTOR | 1.25 |
| 205 | Immune deficiency disease | Enrichment | ATM | 1.22 |
| 206 | Uterine corpus cancer | Enrichment | ATM | 1.22 |
| 207 | Familial colorectal cancer type x | Enrichment | ATM | 1.22 |
| 208 | Heart, malformation of | Enrichment | MAPK1 | 1.17 |
| 209 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.15 |
| 210 | Breast-ovarian cancer, familial 1 | Enrichment | ATM | 1.15 |
| 211 | Protein-deficiency anemia | Enrichment | NRAS | 1.15 |
| 212 | Hepatoblastoma | Enrichment | TP53 | 1.11 |
| 213 | Lynch syndrome | Enrichment | KRAS | 1.09 |
| 214 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.07 |
| 215 | Focal segmental glomerulosclerosis | Enrichment | PLCE1 | 0.97 |
| 216 | Endometrial cancer | Enrichment | ATM | 0.95 |
| 217 | Non-syndromic x-linked intellectual disability | Enrichment | RPS6KA3 | 0.89 |
| 218 | Diamond-blackfan anemia | Enrichment | TP53 | 0.89 |
| 219 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.87 |
| 220 | Genetic steroid-resistant nephrotic syndrome | Enrichment | PLCE1 | 0.76 |
| 221 | Hypertelorism | Enrichment | RPS6KA3 | 0.74 |
| 222 | Benign epilepsy with centrotemporal spikes | Enrichment | PLCB1 | 0.69 |
| 223 | Centralopathic epilepsy | Enrichment | PLCB1 | 0.67 |
| 224 | Nephrotic syndrome | Enrichment | PLCE1 | 0.67 |
| 225 | West syndrome | Enrichment | PLCB1 | 0.66 |
| 226 | Thrombocytopenia | Enrichment | CYCS | 0.63 |
| 227 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.46 |
| 228 | Microcephaly | Enrichment | MAPK1 | 0.42 |