| 1 | Colorectal cancer | Enrichment | AKT1, ATM, BAX, BRCA1, CCND1, CDH1, CHEK2, CTNNB1, FBXW7, PIK3CA, SMAD4, SRC, TP53 | 10.65 |
| 2 | Breast cancer | Enrichment | AKT1, ATM, BRCA1, CASP8, CDH1, CHEK2, ESR1, JUN, PIK3CA, PTEN, TP53 | 10.56 |
| 3 | Ovarian cancer | Enrichment | AKT1, ATM, BRCA1, CDH1, CDKN1B, CHEK2, CTNNB1, EGFR, PIK3CA, PTCH1, PTEN, TP53 | 10.50 |
| 4 | Gastric cancer | Enrichment | ATM, BRCA1, CDH1, CDK4, CHEK2, PIK3CA, PTEN, SMAD4, TP53 | 10.13 |
| 5 | Hereditary breast carcinoma | Enrichment | AKT1, ATM, BRCA1, CDH1, CHEK2, ESR1, PIK3CA, PTEN, TP53 | 10.04 |
| 6 | Bladder cancer | Enrichment | ATM, BRCA1, CTNNB1, EGFR, PIK3CA, PTEN, TP53 | 8.53 |
| 7 | Prostate cancer | Enrichment | ATM, BRCA1, CDH1, CHEK2, PIK3CA, PTEN, TP53 | 8.53 |
| 8 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BRCA1, CDH1, CDK4, CDKN1B, CHEK2, EGFR, PTCH1, PTEN, SMAD4, TP53 | 7.95 |
| 9 | Endometrial cancer | Enrichment | ATM, BRCA1, CDH1, CHEK2, PIK3CA, PTEN | 7.87 |
| 10 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, PTEN, TNFRSF10B, TP53 | 6.82 |
| 11 | Gallbladder cancer | Enrichment | CTNNB1, PIK3CA, SMAD4, TP53 | 6.82 |
| 12 | Lung cancer | Enrichment | BRCA1, CASP8, CHEK2, EGFR, FAS, PIK3CA | 6.68 |
| 13 | Loeys-dietz syndrome | Enrichment | SMAD3, TGFB2, TGFBR1, TGFBR2 | 6.27 |
| 14 | Adult hepatocellular carcinoma | Enrichment | CASP8, CTNNB1, PIK3CA, TP53 | 6.27 |
| 15 | Uterine corpus cancer | Enrichment | ATM, BRCA1, CHEK2, PTEN | 5.86 |
| 16 | Pancreatic cancer | Enrichment | ATM, BRCA1, CHEK2, SMAD4, TP53 | 5.79 |
| 17 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BRCA1, CHEK2, PTCH1, PTEN, TP53 | 5.24 |
| 18 | Rhabdomyosarcoma | Enrichment | BRCA1, PTCH1, PTEN, TP53 | 5.13 |
| 19 | Li-fraumeni syndrome | Enrichment | CHEK2, MDM2, TP53 | 4.97 |
| 20 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA, PTEN | 4.97 |
| 21 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA, TP53 | 4.97 |
| 22 | Hepatocellular carcinoma | Enrichment | CASP8, CTNNB1, PIK3CA, TP53 | 4.54 |
| 23 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2 | 4.53 |
| 24 | Cowden syndrome | Enrichment | AKT1, PIK3CA, PTEN | 4.35 |
| 25 | Marfan syndrome | Enrichment | TGFB2, TGFBR1, TGFBR2 | 4.20 |
| 26 | Leukemia, chronic lymphocytic | Enrichment | ATM, CCND1, TP53 | 4.20 |
| 27 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 4.17 |
| 28 | Li-fraumeni syndrome 1 | Enrichment | CHEK2, TP53 | 4.17 |
| 29 | Sarcoma | Enrichment | CHEK2, TP53 | 4.17 |
| 30 | Lung non-small cell carcinoma | Enrichment | EGFR, MAP2K1, PIK3CA | 4.06 |
| 31 | Meningioma | Enrichment | AKT1, PIK3CA, PTEN | 3.94 |
| 32 | Lip and oral cavity carcinoma | Enrichment | EGFR, PIK3CA, TP53 | 3.94 |
| 33 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1, CHEK2 | 3.83 |
| 34 | Osteogenic sarcoma | Enrichment | CHEK2, TP53 | 3.70 |
| 35 | Osteoporosis, juvenile | Enrichment | DKK1, WNT3A | 3.70 |
| 36 | Dedifferentiated liposarcoma | Enrichment | CDK4, MDM2 | 3.70 |
| 37 | Loeys-dietz syndrome 1 | Enrichment | TGFBR1, TGFBR2 | 3.70 |
| 38 | Adenocarcinoma | Enrichment | ATM, TP53 | 3.70 |
| 39 | Migraine without aura | Enrichment | ESR1, TNF | 3.70 |
| 40 | Laryngeal squamous cell carcinoma | Enrichment | PTEN, TNFRSF10B | 3.70 |
| 41 | Bone osteosarcoma | Enrichment | CHEK2, TP53 | 3.70 |
| 42 | Well-differentiated liposarcoma | Enrichment | CDK4, MDM2 | 3.70 |
| 43 | Lynch syndrome | Enrichment | CHEK2, PIK3CA, TGFBR2 | 3.63 |
| 44 | Septopreoptic holoprosencephaly | Enrichment | GLI2, PTCH1, SHH | 3.63 |
| 45 | Midline interhemispheric variant of holoprosencephaly | Enrichment | GLI2, PTCH1, SHH | 3.63 |
| 46 | Gliosarcoma | Enrichment | ATM, EGFR, TP53 | 3.55 |
| 47 | Microform holoprosencephaly | Enrichment | GLI2, PTCH1, SHH | 3.55 |
| 48 | Lobar holoprosencephaly | Enrichment | GLI2, PTCH1, SHH | 3.55 |
| 49 | Giant cell glioblastoma | Enrichment | ATM, EGFR, TP53 | 3.47 |
| 50 | Alobar holoprosencephaly | Enrichment | GLI2, PTCH1, SHH | 3.47 |
| 51 | Polydactyly, preaxial ii | Enrichment | PTCH1, SHH | 3.40 |
| 52 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1, MAP2K2 | 3.40 |
| 53 | Mantle cell lymphoma | Enrichment | ATM, CCND1 | 3.40 |
| 54 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1, MAP2K2 | 3.40 |
| 55 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 3.40 |
| 56 | Semilobar holoprosencephaly | Enrichment | GLI2, PTCH1, SHH | 3.39 |
| 57 | Diffuse large b-cell lymphoma | Enrichment | CHEK2, PTEN, TP53 | 3.32 |
| 58 | Ehlers-danlos syndrome | Enrichment | SMAD3, TGFB2, TGFBR2 | 3.32 |
| 59 | Macs syndrome | Enrichment | PTCH1, SHH, SOX2 | 3.25 |
| 60 | Acute megakaryocytic leukemia | Enrichment | PTEN, TP53 | 3.18 |
| 61 | Hemimegalencephaly | Enrichment | PIK3CA, PTEN | 3.18 |
| 62 | Adrenocortical carcinoma | Enrichment | CTNNB1, TP53 | 3.00 |
| 63 | Lung squamous cell carcinoma | Enrichment | EGFR, PIK3CA | 3.00 |
| 64 | Esophageal cancer | Enrichment | TGFBR2, TP53 | 2.86 |
| 65 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 2.86 |
| 66 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA | 2.63 |
| 67 | Colonic benign neoplasm | Enrichment | ATM, CHEK2 | 2.63 |
| 68 | Lynch syndrome 1 | Enrichment | ATM, CHEK2 | 2.54 |
| 69 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA | 2.54 |
| 70 | Melanoma | Enrichment | CHEK2, PTEN | 2.54 |
| 71 | Familial colorectal cancer type x | Enrichment | ATM, CHEK2 | 2.45 |
| 72 | Septooptic dysplasia | Enrichment | SHH, SOX2 | 2.37 |
| 73 | Neural tube defects | Enrichment | ITGB1, PARD3 | 2.30 |
| 74 | Multiple sclerosis | Enrichment | ITGB4, TNFRSF1A | 2.24 |
| 75 | Medulloblastoma | Enrichment | CTNNB1, PTCH1 | 2.24 |
| 76 | Lung cancer susceptibility 3 | Enrichment | EGFR, TP53 | 2.24 |
| 77 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K1, MAP2K2 | 2.18 |
| 78 | Periodic fever, familial, autosomal dominant | Enrichment | TNFRSF1A | 2.08 |
| 79 | Holoprosencephaly 3 | Enrichment | SHH | 2.08 |
| 80 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.08 |
| 81 | Chiari malformation type i | Enrichment | DKK1 | 2.08 |
| 82 | Macrodactyly | Enrichment | PIK3CA | 2.08 |
| 83 | Proteus syndrome | Enrichment | AKT1 | 2.08 |
| 84 | Pseudo-torch syndrome 1 | Enrichment | OCLN | 2.08 |
| 85 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.08 |
| 86 | Caspase 8 deficiency | Enrichment | CASP8 | 2.08 |
| 87 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.08 |
| 88 | Schilbach-rott syndrome | Enrichment | PTCH1 | 2.08 |
| 89 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.08 |
| 90 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.08 |
| 91 | Microphthalmia/coloboma 5 | Enrichment | SHH | 2.08 |
| 92 | Uric acid concentration, serum, quantitative trait locus 1 | Enrichment | ABCG2 | 2.08 |
| 93 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.08 |
| 94 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.08 |
| 95 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.08 |
| 96 | Culler-jones syndrome | Enrichment | GLI2 | 2.08 |
| 97 | Accelerated tumor formation | Enrichment | MDM2 | 2.08 |
| 98 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.08 |
| 99 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.08 |
| 100 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.08 |
| 101 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.08 |
| 102 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.08 |
| 103 | Winchester syndrome | Enrichment | MMP14 | 2.08 |
| 104 | Diarrhea 10, protein-losing enteropathy type | Enrichment | PLVAP | 2.08 |
| 105 | Papilloma of choroid plexus | Enrichment | TP53 | 2.08 |
| 106 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.08 |
| 107 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.08 |
| 108 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.08 |
| 109 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.08 |
| 110 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.08 |
| 111 | Tumor predisposition syndrome 4 | Enrichment | CHEK2 | 2.08 |
| 112 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.08 |
| 113 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.08 |
| 114 | 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 |
| 115 | Melorheostosis | Enrichment | MAP2K1 | 2.08 |
| 116 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.08 |
| 117 | Holoprosencephaly 9 | Enrichment | GLI2 | 2.08 |
| 118 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.08 |
| 119 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.08 |
| 120 | Immunodeficiency 31a | Enrichment | STAT1 | 2.08 |
| 121 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.08 |
| 122 | Multiple sclerosis 5 | Enrichment | TNFRSF1A | 2.08 |
| 123 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.08 |
| 124 | Cowden syndrome 6 | Enrichment | AKT1 | 2.08 |
| 125 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.08 |
| 126 | Hypogonadotropic hypogonadism 19 with or without anosmia | Enrichment | DUSP6 | 2.08 |
| 127 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.08 |
| 128 | Immunodeficiency 31b | Enrichment | STAT1 | 2.08 |
| 129 | Glioma susceptibility 2 | Enrichment | PTEN | 2.08 |
| 130 | Macular dystrophy, patterned, 3 | Enrichment | MAPKAPK3 | 2.08 |
| 131 | Ductal carcinoma in situ | Enrichment | TP53 | 2.08 |
| 132 | Blood group, junior system | Enrichment | ABCG2 | 2.08 |
| 133 | Tnf receptor-associated periodic fever syndrome | Enrichment | TNFRSF1A | 2.08 |
| 134 | Thrombocytopenia 6 | Enrichment | SRC | 2.08 |
| 135 | Leiomyosarcoma | Enrichment | CHEK2 | 2.08 |
| 136 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.08 |
| 137 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.08 |
| 138 | Tufted angioma of skin | Enrichment | KDR | 2.08 |
| 139 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.08 |
| 140 | Developmental delay, hypotonia, and impaired language | Enrichment | FBXW7 | 2.08 |
| 141 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.08 |
| 142 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.08 |
| 143 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome | Enrichment | DSP | 2.08 |
| 144 | Hypospadias | Enrichment | PIK3CA | 2.08 |
| 145 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.08 |
| 146 | Perrault syndrome 7 | Enrichment | DAP3 | 2.08 |
| 147 | Breast lobular carcinoma | Enrichment | CDH1 | 2.08 |
| 148 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.08 |
| 149 | Choroid plexus cancer | Enrichment | TP53 | 2.08 |
| 150 | Rare venous malformation | Enrichment | PIK3CA | 2.08 |
| 151 | Turner syndrome | Enrichment | PTCH1 | 2.08 |
| 152 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.08 |
| 153 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.08 |
| 154 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.08 |
| 155 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.08 |
| 156 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.08 |
| 157 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.08 |
| 158 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.08 |
| 159 | Monosomy 9q22.3 | Enrichment | PTCH1 | 2.08 |
| 160 | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | Enrichment | GLI2 | 2.08 |
| 161 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.08 |
| 162 | Premature aging | Enrichment | VIM | 2.08 |
| 163 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.08 |
| 164 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.08 |
| 165 | Macrodactyly of toe | Enrichment | PIK3CA | 2.08 |
| 166 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.08 |
| 167 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.08 |
| 168 | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | Enrichment | SHH | 2.08 |
| 169 | Polycystic liver disease | Enrichment | CTNNB1, DKK3 | 2.07 |
| 170 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1, DKK3 | 2.07 |
| 171 | Behcet syndrome | Enrichment | FAS, TNFRSF1A | 1.98 |
| 172 | Myeloma, multiple | Enrichment | ATM, CCND1, TP53 | 1.96 |
| 173 | Hepatoblastoma | Enrichment | CTNNB1, TP53 | 1.89 |
| 174 | Microphthalmia | Enrichment | PTCH1, SOX2 | 1.85 |
| 175 | Noonan syndrome 1 | Enrichment | MAP2K1, MAP2K2 | 1.82 |
| 176 | Malaria | Enrichment | MAPKAPK3, TNF | 1.82 |
| 177 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 1.78 |
| 178 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 1.78 |
| 179 | Burkitt lymphoma | Enrichment | MYC | 1.78 |
| 180 | Myhre syndrome | Enrichment | SMAD4 | 1.78 |
| 181 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.78 |
| 182 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.78 |
| 183 | Robinow-sorauf syndrome | Enrichment | TWIST1 | 1.78 |
| 184 | Kyphomelic dysplasia | Enrichment | CCN2 | 1.78 |
| 185 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.78 |
| 186 | Arrhythmogenic right ventricular dysplasia, familial, 8 | Enrichment | DSP | 1.78 |
| 187 | Grange syndrome | Enrichment | DAP3 | 1.78 |
| 188 | Quebec platelet disorder | Enrichment | PLAU | 1.78 |
| 189 | Cervical cancer | Enrichment | TP53 | 1.78 |
| 190 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 1.78 |
| 191 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 1.78 |
| 192 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.78 |
| 193 | Solitary median maxillary central incisor | Enrichment | SHH | 1.78 |
| 194 | White-sutton syndrome | Enrichment | GLI2 | 1.78 |
| 195 | Angioma, tufted | Enrichment | KDR | 1.78 |
| 196 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.78 |
| 197 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.78 |
| 198 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.78 |
| 199 | Keratosis palmoplantaris striata ii | Enrichment | DSP | 1.78 |
| 200 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.78 |
| 201 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.78 |
| 202 | Immunodeficiency 31c | Enrichment | STAT1 | 1.78 |
| 203 | Congenital heart defects, multiple types, 3 | Enrichment | CHEK2 | 1.78 |
| 204 | Spondyloepimetaphyseal dysplasia, li-shao-li type | Enrichment | CCN2 | 1.78 |
| 205 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | Enrichment | DSP | 1.78 |
| 206 | Sweeney-cox syndrome | Enrichment | TWIST1 | 1.78 |
| 207 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 1.78 |
| 208 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 1.78 |
| 209 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 1.78 |
| 210 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 1.78 |
| 211 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.78 |
| 212 | Pancreatic cancer 4 | Enrichment | BRCA1 | 1.78 |
| 213 | Immunodeficiency 127 | Enrichment | TNF | 1.78 |
| 214 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.78 |
| 215 | Rela fusion-positive ependymoma | Enrichment | RELA | 1.78 |
| 216 | Recessive dystrophic epidermolysis bullosa | Enrichment | MMP1 | 1.78 |
| 217 | Split hand-foot malformation | Enrichment | LEF1 | 1.78 |
| 218 | Progressive familial heart block | Enrichment | DSP | 1.78 |
| 219 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.78 |
| 220 | Cataract 30 | Enrichment | VIM | 1.78 |
| 221 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.78 |
| 222 | Congenital fibrosarcoma | Enrichment | TP53 | 1.78 |
| 223 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 1.78 |
| 224 | High grade glioma | Enrichment | ATM | 1.78 |
| 225 | Cardiomyopathy, dilated, with woolly hair and keratoderma | Enrichment | DSP | 1.78 |
| 226 | Loeys-dietz syndrome 4 | Enrichment | TGFB2 | 1.78 |
| 227 | Megalencephaly-polydactyly syndrome | Enrichment | MYCN | 1.78 |
| 228 | Cervix carcinoma | Enrichment | TP53 | 1.78 |
| 229 | Hodgkin's lymphoma | Enrichment | TP53 | 1.78 |
| 230 | T-cell prolymphocytic leukemia | Enrichment | ATM | 1.78 |
| 231 | Inflammatory breast carcinoma | Enrichment | BRCA1 | 1.78 |
| 232 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.78 |
| 233 | Metaphyseal anadysplasia | Enrichment | MMP9 | 1.78 |
| 234 | Peritoneum cancer | Enrichment | BRCA1 | 1.78 |
| 235 | Intermittent hydrarthrosis | Enrichment | TNFRSF1A | 1.78 |
| 236 | Bilateral breast cancer | Enrichment | BRCA1 | 1.78 |
| 237 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 1.78 |
| 238 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.78 |
| 239 | Teratoma | Enrichment | CTNNB1 | 1.78 |
| 240 | Familial retinoblastoma | Enrichment | MYCN | 1.78 |
| 241 | Non-syndromic sagittal craniosynostosis | Enrichment | TWIST1 | 1.78 |
| 242 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.78 |
| 243 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.78 |
| 244 | Isolated radial hemimelia | Enrichment | SHH | 1.78 |
| 245 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.78 |
| 246 | Tafro syndrome | Enrichment | MAP2K2 | 1.78 |
| 247 | Rasopathy | Enrichment | MAP2K1, MAP2K2 | 1.71 |
| 248 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.61 |
| 249 | Craniosynostosis 1 | Enrichment | TWIST1 | 1.61 |
| 250 | Retinoblastoma | Enrichment | MYCN | 1.61 |
| 251 | Ataxia-telangiectasia | Enrichment | ATM | 1.61 |
| 252 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.61 |
| 253 | Polycythemia vera | Enrichment | ATM | 1.61 |
| 254 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.61 |
| 255 | Syndactyly, type iv | Enrichment | SHH | 1.61 |
| 256 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP14 | 1.61 |
| 257 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.61 |
| 258 | Corneal dystrophy, posterior polymorphous, 3 | Enrichment | ZEB1 | 1.61 |
| 259 | Psoriatic arthritis | Enrichment | TNF | 1.61 |
| 260 | Corneal dystrophy, fuchs endothelial, 6 | Enrichment | ZEB1 | 1.61 |
| 261 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.61 |
| 262 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 1.61 |
| 263 | Epidermolysis bullosa, lethal acantholytic | Enrichment | DSP | 1.61 |
| 264 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.61 |
| 265 | Estrogen resistance | Enrichment | ESR1 | 1.61 |
| 266 | Holoprosencephaly 7 | Enrichment | PTCH1 | 1.61 |
| 267 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.61 |
| 268 | Anus, imperforate | Enrichment | CTNNB1 | 1.61 |
| 269 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | Enrichment | DSP | 1.61 |
| 270 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.61 |
| 271 | Woolly hair-skin fragility syndrome | Enrichment | DSP | 1.61 |
| 272 | Bacteremia 2 | Enrichment | MAPKAPK3 | 1.61 |
| 273 | Koolen-de vries syndrome | Enrichment | ATM | 1.61 |
| 274 | Desmoid tumor | Enrichment | CTNNB1 | 1.61 |
| 275 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.61 |
| 276 | Keratosis palmoplantaris striata | Enrichment | DSP | 1.61 |
| 277 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.61 |
| 278 | Anaplastic astrocytoma | Enrichment | TP53 | 1.61 |
| 279 | Hypoplastic or aplastic tibia with polydactyly | Enrichment | SHH | 1.61 |
| 280 | Squamous cell carcinoma | Enrichment | TP53 | 1.61 |
| 281 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 1.61 |
| 282 | Intraocular pressure quantitative trait locus | Enrichment | ZEB1 | 1.61 |
| 283 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.61 |
| 284 | Keratoacanthoma | Enrichment | PIK3CA | 1.61 |
| 285 | Vogt-koyanagi-harada disease | Enrichment | FAS | 1.61 |
| 286 | Cystic fibrosis | Enrichment | MIF, TGFB1 | 1.54 |
| 287 | Connective tissue disease | Enrichment | SMAD3, TGFBR2 | 1.54 |
| 288 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1 | 1.49 |
| 289 | Small cell cancer of the lung | Enrichment | TP53 | 1.49 |
| 290 | Microphthalmia, syndromic 3 | Enrichment | SOX2 | 1.49 |
| 291 | Schizencephaly | Enrichment | SHH | 1.49 |
| 292 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.49 |
| 293 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1 | 1.49 |
| 294 | Autoimmune lymphoproliferative syndrome | Enrichment | FAS | 1.49 |
| 295 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.49 |
| 296 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.49 |
| 297 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.49 |
| 298 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 1.49 |
| 299 | Saethre-chotzen syndrome | Enrichment | TWIST1 | 1.49 |
| 300 | Pilomatrixoma | Enrichment | CTNNB1 | 1.49 |
| 301 | Cholangiocarcinoma | Enrichment | BRCA1 | 1.49 |
| 302 | Alazami syndrome | Enrichment | CTNNB1 | 1.49 |
| 303 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 1.49 |
| 304 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.49 |
| 305 | Cerebrovascular disease | Enrichment | PIK3CA | 1.49 |
| 306 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.49 |
| 307 | Craniopharyngioma | Enrichment | CTNNB1 | 1.49 |
| 308 | Tuberculosis | Enrichment | MAPKAPK3 | 1.49 |
| 309 | Corneal dystrophy | Enrichment | ZEB1 | 1.49 |
| 310 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.49 |
| 311 | Hemoglobin c disease | Enrichment | CHEK2 | 1.49 |
| 312 | Cerebral malaria | Enrichment | TNF | 1.49 |
| 313 | Non-syndromic bicoronal craniosynostosis | Enrichment | TWIST1 | 1.49 |
| 314 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.49 |
| 315 | Systemic-onset juvenile idiopathic arthritis | Enrichment | MIF | 1.49 |
| 316 | Glioma | Enrichment | PTEN | 1.49 |
| 317 | Oculomotor apraxia | Enrichment | ATM | 1.49 |
| 318 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1 | 1.49 |
| 319 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.39 |
| 320 | Alzheimer disease 2 | Enrichment | PLAU | 1.39 |
| 321 | Feingold syndrome 1 | Enrichment | MYCN | 1.39 |
| 322 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 1.39 |
| 323 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.39 |
| 324 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.39 |
| 325 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.39 |
| 326 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.39 |
| 327 | Rheumatoid arthritis, systemic juvenile | Enrichment | MIF | 1.39 |
| 328 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1 | 1.39 |
| 329 | Fuchs' endothelial dystrophy | Enrichment | ZEB1 | 1.39 |
| 330 | Pervasive developmental disorder | Enrichment | FBXW7 | 1.39 |
| 331 | Lymphoma | Enrichment | TP53 | 1.39 |
| 332 | Cardiac arrest | Enrichment | DSP | 1.39 |
| 333 | Congenital diarrhea 7 with exudative enteropathy | Enrichment | PLVAP | 1.39 |
| 334 | Glioblastoma | Enrichment | ATM | 1.39 |
| 335 | Hemangioma | Enrichment | PTEN | 1.39 |
| 336 | Histiocytoid hemangioma | Enrichment | VIM | 1.39 |
| 337 | Aplasia cutis congenita | Enrichment | ITGB4 | 1.39 |
| 338 | Vascular dementia | Enrichment | TNF | 1.39 |
| 339 | Diffuse cutaneous systemic sclerosis | Enrichment | CCN2 | 1.39 |
| 340 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.39 |
| 341 | Rare pervasive developmental disorder | Enrichment | FBXW7 | 1.39 |
| 342 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.31 |
| 343 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.31 |
| 344 | Corneal dystrophy, posterior polymorphous, 1 | Enrichment | ZEB1 | 1.31 |
| 345 | Basal cell nevus syndrome 1 | Enrichment | PTCH1 | 1.31 |
| 346 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.31 |
| 347 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4 | 1.31 |
| 348 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.31 |
| 349 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.31 |
| 350 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGB4 | 1.31 |
| 351 | Wilms tumor 5 | Enrichment | CHEK2 | 1.31 |
| 352 | Hemangioma, capillary infantile | Enrichment | KDR | 1.31 |
| 353 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.31 |
| 354 | Basal cell carcinoma 1 | Enrichment | PTCH1 | 1.31 |
| 355 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4 | 1.31 |
| 356 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.31 |
| 357 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.31 |
| 358 | Limited scleroderma | Enrichment | CCN2 | 1.31 |
| 359 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.31 |
| 360 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.31 |
| 361 | Inherited arrhythmogenic cardiomyopathy | Enrichment | DSP | 1.31 |
| 362 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.31 |
| 363 | Nevus, epidermal | Enrichment | PIK3CA | 1.25 |
| 364 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.25 |
| 365 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.25 |
| 366 | Myelofibrosis | Enrichment | SRC | 1.25 |
| 367 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.25 |
| 368 | Essential thrombocythemia | Enrichment | TP53 | 1.25 |
| 369 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.25 |
| 370 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.25 |
| 371 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.25 |
| 372 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 1.25 |
| 373 | Congenital hydrocephalus | Enrichment | PTCH1 | 1.25 |
| 374 | Overgrowth syndrome | Enrichment | PTCH1 | 1.25 |
| 375 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.25 |
| 376 | Thrombocytopenia | Enrichment | SMAD4, SRC | 1.22 |
| 377 | Glioma susceptibility 1 | Enrichment | TP53 | 1.19 |
| 378 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.19 |
| 379 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.19 |
| 380 | Neuroblastoma | Enrichment | MYCN | 1.19 |
| 381 | Myocarditis | Enrichment | DSP | 1.19 |
| 382 | Combined pituitary hormone deficiency | Enrichment | GLI2 | 1.19 |
| 383 | Charge syndrome | Enrichment | TNFRSF1A | 1.14 |
| 384 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | DSP | 1.14 |
| 385 | Junctional epidermolysis bullosa | Enrichment | ITGB4 | 1.14 |
| 386 | Primary hyperaldosteronism | Enrichment | TP53 | 1.14 |
| 387 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | DSP | 1.14 |
| 388 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.14 |
| 389 | Cataract 30, multiple types | Enrichment | VIM | 1.10 |
| 390 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.10 |
| 391 | Familial colorectal cancer | Enrichment | TP53 | 1.10 |
| 392 | Primary ovarian insufficiency | Enrichment | CHEK2, KDR | 1.07 |
| 393 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.06 |
| 394 | Pectus excavatum | Enrichment | TGFBR1 | 1.06 |
| 395 | Immune deficiency disease | Enrichment | ATM | 1.06 |
| 396 | Asthma | Enrichment | TNF | 1.06 |
| 397 | Meningioma, familial | Enrichment | PTEN | 1.06 |
| 398 | Myelodysplastic syndrome | Enrichment | TP53 | 1.06 |
| 399 | Nanophthalmos | Enrichment | SOX2 | 1.06 |
| 400 | Specific learning disability | Enrichment | MAPK1 | 1.06 |
| 401 | Cardiac conduction defect | Enrichment | DSP | 1.02 |
| 402 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | DSP | 1.02 |
| 403 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | DSP | 1.02 |
| 404 | Aortic valve disease 1 | Enrichment | DSP | 0.99 |
| 405 | Alzheimer's disease | Enrichment | TNF | 0.99 |
| 406 | Nk-cell enteropathy | Enrichment | CHEK2 | 0.99 |
| 407 | Osteoporosis | Enrichment | SRC | 0.96 |
| 408 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 0.96 |
| 409 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 0.96 |
| 410 | Cleft lip/palate | Enrichment | CDH1 | 0.96 |
| 411 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | DSP | 0.96 |
| 412 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 0.93 |
| 413 | Polydactyly, postaxial, type a1 | Enrichment | PTCH1 | 0.93 |
| 414 | Wilms tumor 1 | Enrichment | CHEK2 | 0.93 |
| 415 | Perrault syndrome 1 | Enrichment | DAP3 | 0.91 |
| 416 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | DSP | 0.91 |
| 417 | Isolated congenital microcephaly | Enrichment | OCLN | 0.91 |
| 418 | Alzheimer disease, familial, 1 | Enrichment | PLAU | 0.88 |
| 419 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4 | 0.88 |
| 420 | Interstitial lung disease 2 | Enrichment | DSP | 0.88 |
| 421 | Heart, malformation of | Enrichment | MAPK1 | 0.86 |
| 422 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | DUSP6 | 0.86 |
| 423 | Arteriovenous malformations of the brain | Enrichment | EGFR | 0.84 |
| 424 | Craniosynostosis | Enrichment | GLI2 | 0.82 |
| 425 | Cardiomyopathy, dilated, 1a | Enrichment | DSP | 0.80 |
| 426 | Cardiomyopathy, dilated, 1g | Enrichment | DSP | 0.78 |
| 427 | Myocardial infarction | Enrichment | ESR1 | 0.78 |
| 428 | Skin disease | Enrichment | ITGB4 | 0.78 |
| 429 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.76 |
| 430 | Kallmann syndrome | Enrichment | DUSP6 | 0.76 |
| 431 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 0.76 |
| 432 | Autoinflammatory disease | Enrichment | TNFRSF1A | 0.74 |
| 433 | Tetralogy of fallot | Enrichment | KDR | 0.71 |
| 434 | Congenital nervous system abnormality | Enrichment | CTNNB1, PTEN | 0.66 |
| 435 | Nervous system disease | Enrichment | CTNNB1, PTEN | 0.66 |
| 436 | Long qt syndrome 1 | Enrichment | DSP | 0.66 |
| 437 | Long qt syndrome | Enrichment | DSP | 0.64 |
| 438 | Autism spectrum disorder | Enrichment | MAP2K1, PTEN | 0.64 |
| 439 | Fanconi anemia, complementation group a | Enrichment | BRCA1 | 0.60 |
| 440 | Left ventricular noncompaction | Enrichment | DSP | 0.60 |
| 441 | Diamond-blackfan anemia | Enrichment | TP53 | 0.59 |
| 442 | Microcephaly | Enrichment | CTNNB1, MAPK1 | 0.57 |
| 443 | Systemic lupus erythematosus | Enrichment | TNF | 0.56 |
| 444 | Leukemia, acute myeloid | Enrichment | TP53 | 0.55 |
| 445 | Hypertelorism | Enrichment | PIK3CA | 0.46 |
| 446 | Familial isolated dilated cardiomyopathy | Enrichment | DSP | 0.45 |
| 447 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | GLI2 | 0.43 |
| 448 | Autism | Enrichment | SHH | 0.35 |
| 449 | Dilated cardiomyopathy | Enrichment | DSP | 0.31 |