| 1 | Breast cancer | Enrichment | AKT1, BRCA1, HNF1A, JUN, TP53 | 4.90 |
| 2 | Colorectal cancer | Enrichment | AKT1, BRCA1, CCND1, SMAD4, TP53 | 4.58 |
| 3 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, STAT3 | 4.32 |
| 4 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 4.02 |
| 5 | Pancreatic cancer | Enrichment | BRCA1, SMAD4, TP53 | 3.87 |
| 6 | Lymphoma | Enrichment | PTPN11, TP53 | 3.80 |
| 7 | Bladder cancer | Enrichment | BRCA1, CDKN1A, TP53 | 3.67 |
| 8 | Type 1 diabetes mellitus | Enrichment | HNF1A, IL6 | 3.62 |
| 9 | Breast adenocarcinoma | Enrichment | AKT1, TP53 | 3.62 |
| 10 | Noonan syndrome 3 | Enrichment | PTPN11, SOS1 | 3.48 |
| 11 | Gallbladder cancer | Enrichment | SMAD4, TP53 | 3.48 |
| 12 | Loeys-dietz syndrome | Enrichment | SMAD3, TGFBR1 | 3.24 |
| 13 | Gastric cancer | Enrichment | BRCA1, SMAD4, TP53 | 3.16 |
| 14 | Leukemia, chronic lymphocytic | Enrichment | CCND1, TP53 | 3.15 |
| 15 | Ovarian cancer | Enrichment | AKT1, BRCA1, HNF1A, TP53 | 3.13 |
| 16 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD3, SMAD4, TGFBR1 | 3.13 |
| 17 | Hereditary breast carcinoma | Enrichment | AKT1, BRCA1, TP53 | 3.13 |
| 18 | Pectus excavatum | Enrichment | PTPN11, TGFBR1 | 3.06 |
| 19 | Early-onset parkinson's disease | Enrichment | PODXL, UCHL1 | 2.98 |
| 20 | Noonan syndrome and noonan-related syndrome | Enrichment | PTPN11, SOS1 | 2.79 |
| 21 | Rhabdomyosarcoma | Enrichment | BRCA1, TP53 | 2.73 |
| 22 | Inherited cancer-predisposing syndrome | Enrichment | BRCA1, PTPN11, SMAD4, TP53 | 2.70 |
| 23 | Diffuse large b-cell lymphoma | Enrichment | STAT3, TP53 | 2.58 |
| 24 | Noonan syndrome 1 | Enrichment | PTPN11, SOS1 | 2.41 |
| 25 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.39 |
| 26 | Proteus syndrome | Enrichment | AKT1 | 2.39 |
| 27 | Metachondromatosis | Enrichment | PTPN11 | 2.39 |
| 28 | Hepatic adenomas, familial | Enrichment | HNF1A | 2.39 |
| 29 | Noonan syndrome 4 | Enrichment | SOS1 | 2.39 |
| 30 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.39 |
| 31 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.39 |
| 32 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.39 |
| 33 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.39 |
| 34 | Papilloma of choroid plexus | Enrichment | TP53 | 2.39 |
| 35 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.39 |
| 36 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.39 |
| 37 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.39 |
| 38 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.39 |
| 39 | Angioedema, hereditary, 7 | Enrichment | MYOF | 2.39 |
| 40 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.39 |
| 41 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.39 |
| 42 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.39 |
| 43 | Cowden syndrome 6 | Enrichment | AKT1 | 2.39 |
| 44 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.39 |
| 45 | Type 1 diabetes mellitus 20 | Enrichment | HNF1A | 2.39 |
| 46 | Parkinson disease 5, autosomal dominant | Enrichment | UCHL1 | 2.39 |
| 47 | Ductal carcinoma in situ | Enrichment | TP53 | 2.39 |
| 48 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.39 |
| 49 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.39 |
| 50 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.39 |
| 51 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.39 |
| 52 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.39 |
| 53 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.39 |
| 54 | Choroid plexus cancer | Enrichment | TP53 | 2.39 |
| 55 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.39 |
| 56 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.39 |
| 57 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.39 |
| 58 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.39 |
| 59 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.39 |
| 60 | Malignant astrocytoma | Enrichment | PTPN11 | 2.39 |
| 61 | Rasopathy | Enrichment | PTPN11, SOS1 | 2.31 |
| 62 | Prostate cancer | Enrichment | BRCA1, TP53 | 2.21 |
| 63 | Lung cancer | Enrichment | BRCA1, FASLG | 2.13 |
| 64 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 2.09 |
| 65 | Burkitt lymphoma | Enrichment | MYC | 2.09 |
| 66 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.09 |
| 67 | Myhre syndrome | Enrichment | SMAD4 | 2.09 |
| 68 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.09 |
| 69 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.09 |
| 70 | Cervical cancer | Enrichment | TP53 | 2.09 |
| 71 | Pulmonic stenosis | Enrichment | SOS1 | 2.09 |
| 72 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1 | 2.09 |
| 73 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.09 |
| 74 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.09 |
| 75 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.09 |
| 76 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.09 |
| 77 | Spastic paraplegia 79b, autosomal recessive | Enrichment | UCHL1 | 2.09 |
| 78 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | Enrichment | COL4A2 | 2.09 |
| 79 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.09 |
| 80 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.09 |
| 81 | Werner syndrome | Enrichment | PTPN11 | 2.09 |
| 82 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.09 |
| 83 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.09 |
| 84 | Recessive dystrophic epidermolysis bullosa | Enrichment | MMP1 | 2.09 |
| 85 | Hereditary spastic paraplegia 79a | Enrichment | UCHL1 | 2.09 |
| 86 | Split hand-foot malformation | Enrichment | LEF1 | 2.09 |
| 87 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.09 |
| 88 | Congenital fibrosarcoma | Enrichment | TP53 | 2.09 |
| 89 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.09 |
| 90 | Sarcoma | Enrichment | TP53 | 2.09 |
| 91 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.09 |
| 92 | Spastic paraplegia 79a, autosomal dominant, with ataxia | Enrichment | UCHL1 | 2.09 |
| 93 | Cervix carcinoma | Enrichment | TP53 | 2.09 |
| 94 | Hodgkin's lymphoma | Enrichment | TP53 | 2.09 |
| 95 | Inflammatory breast carcinoma | Enrichment | BRCA1 | 2.09 |
| 96 | Peritoneum cancer | Enrichment | BRCA1 | 2.09 |
| 97 | Bilateral breast cancer | Enrichment | BRCA1 | 2.09 |
| 98 | Hyperinsulinism due to hnf1a deficiency | Enrichment | HNF1A | 2.09 |
| 99 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.09 |
| 100 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.09 |
| 101 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.92 |
| 102 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.92 |
| 103 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | FASLG | 1.92 |
| 104 | Nuchal bleb, familial | Enrichment | SOS1 | 1.92 |
| 105 | Osteogenic sarcoma | Enrichment | TP53 | 1.92 |
| 106 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.92 |
| 107 | Brain small vessel disease 2 | Enrichment | COL4A2 | 1.92 |
| 108 | Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | Enrichment | HNF1A | 1.92 |
| 109 | Hyper ige syndrome | Enrichment | STAT3 | 1.92 |
| 110 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.92 |
| 111 | Loeys-dietz syndrome 1 | Enrichment | TGFBR1 | 1.92 |
| 112 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.92 |
| 113 | Anaplastic astrocytoma | Enrichment | TP53 | 1.92 |
| 114 | Chromophobe renal cell carcinoma | Enrichment | HNF1A | 1.92 |
| 115 | Squamous cell carcinoma | Enrichment | TP53 | 1.92 |
| 116 | Adenocarcinoma | Enrichment | TP53 | 1.92 |
| 117 | Bone osteosarcoma | Enrichment | TP53 | 1.92 |
| 118 | Atypical juvenile parkinsonism | Enrichment | PODXL | 1.92 |
| 119 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.92 |
| 120 | Enchondromatosis | Enrichment | HIF1A | 1.92 |
| 121 | Type 2 diabetes mellitus | Enrichment | HNF1A, IL6 | 1.90 |
| 122 | Kaposi sarcoma | Enrichment | IL6 | 1.79 |
| 123 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A2 | 1.79 |
| 124 | Small cell cancer of the lung | Enrichment | TP53 | 1.79 |
| 125 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.79 |
| 126 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1 | 1.79 |
| 127 | Autoimmune lymphoproliferative syndrome | Enrichment | FASLG | 1.79 |
| 128 | Maturity-onset diabetes of the young, type 3 | Enrichment | HNF1A | 1.79 |
| 129 | Cholangiocarcinoma | Enrichment | BRCA1 | 1.79 |
| 130 | Mantle cell lymphoma | Enrichment | CCND1 | 1.79 |
| 131 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.79 |
| 132 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.79 |
| 133 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.79 |
| 134 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.79 |
| 135 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.79 |
| 136 | Clear cell papillary renal cell carcinoma | Enrichment | HNF1A | 1.79 |
| 137 | Gingival fibromatosis | Enrichment | SOS1 | 1.79 |
| 138 | Hereditary angioedema with normal c1inh not related to f12 or plg variant | Enrichment | MYOF | 1.79 |
| 139 | Thrombocytopenia | Enrichment | PTPN11, SMAD4 | 1.79 |
| 140 | Lymphoma, mucosa-associated lymphoid type | Enrichment | BIRC3 | 1.70 |
| 141 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.70 |
| 142 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.70 |
| 143 | Parkinson disease 2, autosomal recessive juvenile | Enrichment | PODXL | 1.70 |
| 144 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.70 |
| 145 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.70 |
| 146 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1 | 1.70 |
| 147 | Parkin type of early-onset parkinson disease | Enrichment | PODXL | 1.70 |
| 148 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.70 |
| 149 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.70 |
| 150 | Familial porencephaly | Enrichment | COL4A2 | 1.70 |
| 151 | Hereditary breast ovarian cancer syndrome | Enrichment | BRCA1, TP53 | 1.68 |
| 152 | Myeloma, multiple | Enrichment | CCND1, TP53 | 1.67 |
| 153 | Li-fraumeni syndrome | Enrichment | TP53 | 1.62 |
| 154 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.62 |
| 155 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.62 |
| 156 | Hemorrhage, intracerebral | Enrichment | COL4A2 | 1.62 |
| 157 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.62 |
| 158 | Adrenocortical carcinoma | Enrichment | TP53 | 1.62 |
| 159 | Clear cell renal cell carcinoma | Enrichment | HNF1A | 1.62 |
| 160 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.62 |
| 161 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.62 |
| 162 | Esophageal cancer | Enrichment | TP53 | 1.55 |
| 163 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.55 |
| 164 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.55 |
| 165 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.55 |
| 166 | Essential thrombocythemia | Enrichment | TP53 | 1.55 |
| 167 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.55 |
| 168 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.55 |
| 169 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.55 |
| 170 | Glioma susceptibility 1 | Enrichment | TP53 | 1.50 |
| 171 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.50 |
| 172 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.50 |
| 173 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.44 |
| 174 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.44 |
| 175 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.44 |
| 176 | Primary hyperaldosteronism | Enrichment | TP53 | 1.44 |
| 177 | Cowden syndrome | Enrichment | AKT1 | 1.44 |
| 178 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.44 |
| 179 | Marfan syndrome | Enrichment | TGFBR1 | 1.40 |
| 180 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.40 |
| 181 | Familial colorectal cancer | Enrichment | TP53 | 1.40 |
| 182 | Myelodysplastic syndrome | Enrichment | TP53 | 1.36 |
| 183 | Diabetes mellitus | Enrichment | HNF1A | 1.36 |
| 184 | Uterine corpus cancer | Enrichment | BRCA1 | 1.36 |
| 185 | Specific learning disability | Enrichment | PTPN11 | 1.36 |
| 186 | Epicanthus | Enrichment | PTPN11 | 1.32 |
| 187 | Digeorge syndrome | Enrichment | HNF1A | 1.32 |
| 188 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.32 |
| 189 | Meningioma | Enrichment | AKT1 | 1.32 |
| 190 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.32 |
| 191 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.32 |
| 192 | Aortic valve disease 1 | Enrichment | SOS1 | 1.29 |
| 193 | Breast-ovarian cancer, familial 1 | Enrichment | BRCA1 | 1.29 |
| 194 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.29 |
| 195 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.26 |
| 196 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.26 |
| 197 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.26 |
| 198 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.26 |
| 199 | Renal cell carcinoma, nonpapillary | Enrichment | HNF1A | 1.23 |
| 200 | Gliosarcoma | Enrichment | TP53 | 1.20 |
| 201 | Giant cell glioblastoma | Enrichment | TP53 | 1.18 |
| 202 | Human immunodeficiency virus type 1 | Enrichment | CXCR1 | 1.15 |
| 203 | Patent foramen ovale | Enrichment | PTPN11 | 1.15 |
| 204 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.13 |
| 205 | Ehlers-danlos syndrome | Enrichment | SMAD3 | 1.13 |
| 206 | Maturity-onset diabetes of the young | Enrichment | HNF1A | 1.11 |
| 207 | Endometrial cancer | Enrichment | BRCA1 | 1.09 |
| 208 | Hepatoblastoma | Enrichment | TP53 | 1.09 |
| 209 | Hepatocellular carcinoma | Enrichment | TP53 | 1.07 |
| 210 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.05 |
| 211 | Malaria | Enrichment | NOS2 | 1.05 |
| 212 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 1.05 |
| 213 | Scoliosis | Enrichment | PTPN11 | 1.03 |
| 214 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 1.00 |
| 215 | Strabismus | Enrichment | PTPN11 | 0.98 |
| 216 | Long qt syndrome 1 | Enrichment | PTPN11 | 0.94 |
| 217 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 0.93 |
| 218 | Cystic fibrosis | Enrichment | TGFB1 | 0.91 |
| 219 | Connective tissue disease | Enrichment | SMAD3 | 0.91 |
| 220 | Fanconi anemia, complementation group a | Enrichment | BRCA1 | 0.88 |
| 221 | Diamond-blackfan anemia | Enrichment | TP53 | 0.87 |
| 222 | Cerebral palsy | Enrichment | COL4A2 | 0.83 |
| 223 | Leukemia, acute myeloid | Enrichment | TP53 | 0.82 |
| 224 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.79 |
| 225 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.69 |
| 226 | Autism spectrum disorder | Enrichment | PTPN11 | 0.44 |
| 227 | Microcephaly | Enrichment | PTPN11 | 0.40 |