| 1 | Acute megakaryocytic leukemia | Enrichment | GATA1, PTEN, TP53 | 6.33 |
| 2 | Adult hepatocellular carcinoma | Enrichment | CASP8, CTNNB1, TP53 | 5.41 |
| 3 | Lung cancer | Enrichment | CASP8, FAS, FASLG, IRF1 | 5.26 |
| 4 | Granulomatous disease, chronic, autosomal recessive, 2 | Enrichment | NCF1, NCF2 | 4.40 |
| 5 | Nasopharyngeal carcinoma | Enrichment | NFKBIA, TP53 | 4.40 |
| 6 | Hepatocellular carcinoma | Enrichment | CASP8, CTNNB1, TP53 | 4.16 |
| 7 | Autoimmune lymphoproliferative syndrome | Enrichment | FAS, FASLG | 4.10 |
| 8 | Bladder cancer | Enrichment | CTNNB1, PTEN, TP53 | 3.79 |
| 9 | Adrenocortical carcinoma | Enrichment | CTNNB1, TP53 | 3.70 |
| 10 | Squamous cell carcinoma, head and neck | Enrichment | PTEN, TP53 | 3.56 |
| 11 | Gallbladder cancer | Enrichment | CTNNB1, TP53 | 3.56 |
| 12 | Colorectal cancer | Enrichment | BAX, CTNNB1, PIK3R1, TP53 | 3.54 |
| 13 | Chronic granulomatous disease | Enrichment | NCF1, NCF2 | 3.33 |
| 14 | Gastric cancer | Enrichment | IRF1, PTEN, TP53 | 3.28 |
| 15 | Rhabdomyosarcoma | Enrichment | PTEN, TP53 | 2.81 |
| 16 | Gliosarcoma | Enrichment | NFKBIA, TP53 | 2.81 |
| 17 | Giant cell glioblastoma | Enrichment | NFKBIA, TP53 | 2.76 |
| 18 | Behcet syndrome | Enrichment | FAS, TNFRSF1A | 2.66 |
| 19 | Diffuse large b-cell lymphoma | Enrichment | PTEN, TP53 | 2.66 |
| 20 | Breast cancer | Enrichment | CASP8, PTEN, TP53 | 2.58 |
| 21 | Hepatoblastoma | Enrichment | CTNNB1, TP53 | 2.57 |
| 22 | Diamond-blackfan anemia 1 | Enrichment | GATA1, TP53 | 2.49 |
| 23 | Periodic fever, familial, autosomal dominant | Enrichment | TNFRSF1A | 2.43 |
| 24 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.43 |
| 25 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.43 |
| 26 | Anemia, congenital, nonspherocytic hemolytic, 9 | Enrichment | GATA1 | 2.43 |
| 27 | Thrombocytopenia, x-linked, with or without dyserythropoietic anemia | Enrichment | GATA1 | 2.43 |
| 28 | Thrombocytopenia with beta-thalassemia, x-linked | Enrichment | GATA1 | 2.43 |
| 29 | Caspase 8 deficiency | Enrichment | CASP8 | 2.43 |
| 30 | Fetal encasement syndrome | Enrichment | CHUK | 2.43 |
| 31 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.43 |
| 32 | Developmental and epileptic encephalopathy 27 | Enrichment | GRIN2B | 2.43 |
| 33 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.43 |
| 34 | Immunodeficiency 15b | Enrichment | IKBKB | 2.43 |
| 35 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.43 |
| 36 | Immunodeficiency 15a | Enrichment | IKBKB | 2.43 |
| 37 | Short syndrome | Enrichment | PIK3R1 | 2.43 |
| 38 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.43 |
| 39 | Anemia, x-linked, with or without neutropenia and/or platelet abnormalities | Enrichment | GATA1 | 2.43 |
| 40 | Papilloma of choroid plexus | Enrichment | TP53 | 2.43 |
| 41 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.43 |
| 42 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.43 |
| 43 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.43 |
| 44 | Thrombocytopenia 4 | Enrichment | CYCS | 2.43 |
| 45 | Coronary artery disease, autosomal dominant, 1 | Enrichment | MEF2A | 2.43 |
| 46 | Charcot-marie-tooth disease, axonal, type 2f | Enrichment | HSPB1 | 2.43 |
| 47 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | Enrichment | GRIN2B | 2.43 |
| 48 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.43 |
| 49 | Multiple sclerosis 5 | Enrichment | TNFRSF1A | 2.43 |
| 50 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.43 |
| 51 | Glioma susceptibility 2 | Enrichment | PTEN | 2.43 |
| 52 | Ductal carcinoma in situ | Enrichment | TP53 | 2.43 |
| 53 | Immunodeficiency 22 | Enrichment | LCK | 2.43 |
| 54 | Tnf receptor-associated periodic fever syndrome | Enrichment | TNFRSF1A | 2.43 |
| 55 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.43 |
| 56 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.43 |
| 57 | Acute megakaryoblastic leukemia in children with down syndrome | Enrichment | GATA1 | 2.43 |
| 58 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.43 |
| 59 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.43 |
| 60 | Thrombocytopenia with congenital dyserythropoietic anemia | Enrichment | GATA1 | 2.43 |
| 61 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.43 |
| 62 | Grin2b-related neurodevelopmental disorder | Enrichment | GRIN2B | 2.43 |
| 63 | Choroid plexus cancer | Enrichment | TP53 | 2.43 |
| 64 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.43 |
| 65 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.43 |
| 66 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.43 |
| 67 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.43 |
| 68 | Prostate cancer | Enrichment | PTEN, TP53 | 2.29 |
| 69 | Ovarian cancer | Enrichment | CTNNB1, PTEN, TP53 | 2.22 |
| 70 | Severe combined immunodeficiency | Enrichment | IKBKB, LCK | 2.18 |
| 71 | Myeloproliferative syndrome, transient | Enrichment | GATA1 | 2.13 |
| 72 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.13 |
| 73 | Granulomatous disease, chronic, autosomal recessive, 1 | Enrichment | NCF1 | 2.13 |
| 74 | Porphyria, congenital erythropoietic | Enrichment | GATA1 | 2.13 |
| 75 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.13 |
| 76 | Cervical cancer | Enrichment | TP53 | 2.13 |
| 77 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.13 |
| 78 | Neuronopathy, distal hereditary motor, autosomal dominant 3 | Enrichment | HSPB1 | 2.13 |
| 79 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.13 |
| 80 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.13 |
| 81 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.13 |
| 82 | Immunodeficiency 127 | Enrichment | TNF | 2.13 |
| 83 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.13 |
| 84 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.13 |
| 85 | Acute basophilic leukemia | Enrichment | GATA1 | 2.13 |
| 86 | Congenital fibrosarcoma | Enrichment | TP53 | 2.13 |
| 87 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.13 |
| 88 | Sarcoma | Enrichment | TP53 | 2.13 |
| 89 | Ectodermal dysplasia and immune deficiency | Enrichment | NFKBIA | 2.13 |
| 90 | Cervix carcinoma | Enrichment | TP53 | 2.13 |
| 91 | Hodgkin's lymphoma | Enrichment | TP53 | 2.13 |
| 92 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.13 |
| 93 | Intermittent hydrarthrosis | Enrichment | TNFRSF1A | 2.13 |
| 94 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.13 |
| 95 | Immunodeficiency 117 | Enrichment | IRF1 | 2.13 |
| 96 | Teratoma | Enrichment | CTNNB1 | 2.13 |
| 97 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.13 |
| 98 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.13 |
| 99 | Hypokalemia | Enrichment | SLC12A3 | 2.13 |
| 100 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.13 |
| 101 | Diamond-blackfan anemia | Enrichment | GATA1, TP53 | 2.11 |
| 102 | Microcephaly | Enrichment | CTNNB1, GRIN2B, MAPK1 | 1.98 |
| 103 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.96 |
| 104 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | FASLG | 1.96 |
| 105 | Osteogenic sarcoma | Enrichment | TP53 | 1.96 |
| 106 | Psoriatic arthritis | Enrichment | TNF | 1.96 |
| 107 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.96 |
| 108 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.96 |
| 109 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.96 |
| 110 | Anus, imperforate | Enrichment | CTNNB1 | 1.96 |
| 111 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.96 |
| 112 | Desmoid tumor | Enrichment | CTNNB1 | 1.96 |
| 113 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.96 |
| 114 | Anaplastic astrocytoma | Enrichment | TP53 | 1.96 |
| 115 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 1.96 |
| 116 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.96 |
| 117 | Squamous cell carcinoma | Enrichment | TP53 | 1.96 |
| 118 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 1.96 |
| 119 | Adenocarcinoma | Enrichment | TP53 | 1.96 |
| 120 | Migraine without aura | Enrichment | TNF | 1.96 |
| 121 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.96 |
| 122 | Bone osteosarcoma | Enrichment | TP53 | 1.96 |
| 123 | Vogt-koyanagi-harada disease | Enrichment | FAS | 1.96 |
| 124 | Hereditary breast carcinoma | Enrichment | PTEN, TP53 | 1.94 |
| 125 | Thrombocytopenia | Enrichment | CYCS, GATA1 | 1.87 |
| 126 | Small cell cancer of the lung | Enrichment | TP53 | 1.83 |
| 127 | Down syndrome | Enrichment | GATA1 | 1.83 |
| 128 | Granulomatous disease, chronic, x-linked | Enrichment | NCF1 | 1.83 |
| 129 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.83 |
| 130 | Astigmatism | Enrichment | GRIN2B | 1.83 |
| 131 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.83 |
| 132 | Pilomatrixoma | Enrichment | CTNNB1 | 1.83 |
| 133 | Alazami syndrome | Enrichment | CTNNB1 | 1.83 |
| 134 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.83 |
| 135 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.83 |
| 136 | Craniopharyngioma | Enrichment | CTNNB1 | 1.83 |
| 137 | Cerebral malaria | Enrichment | TNF | 1.83 |
| 138 | Glioma | Enrichment | PTEN | 1.83 |
| 139 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN, TP53 | 1.76 |
| 140 | Neuronopathy, distal hereditary motor, autosomal dominant 2 | Enrichment | HSPB1 | 1.74 |
| 141 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.74 |
| 142 | Gitelman syndrome | Enrichment | SLC12A3 | 1.74 |
| 143 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.74 |
| 144 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.74 |
| 145 | Lymphoma | Enrichment | TP53 | 1.74 |
| 146 | Hemangioma | Enrichment | PTEN | 1.74 |
| 147 | Vascular dementia | Enrichment | TNF | 1.74 |
| 148 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 1.74 |
| 149 | Hemimegalencephaly | Enrichment | PTEN | 1.74 |
| 150 | Sleep disorder | Enrichment | GRIN2B | 1.74 |
| 151 | Li-fraumeni syndrome | Enrichment | TP53 | 1.66 |
| 152 | Cowden syndrome 1 | Enrichment | PTEN | 1.66 |
| 153 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.66 |
| 154 | Breast adenocarcinoma | Enrichment | TP53 | 1.66 |
| 155 | Esophageal cancer | Enrichment | TP53 | 1.59 |
| 156 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.59 |
| 157 | Essential thrombocythemia | Enrichment | TP53 | 1.59 |
| 158 | Bartter disease | Enrichment | SLC12A3 | 1.59 |
| 159 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.59 |
| 160 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.59 |
| 161 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.59 |
| 162 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.59 |
| 163 | Glioma susceptibility 1 | Enrichment | TP53 | 1.54 |
| 164 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.54 |
| 165 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.54 |
| 166 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | NCF1 | 1.49 |
| 167 | Charge syndrome | Enrichment | TNFRSF1A | 1.49 |
| 168 | Primary hyperaldosteronism | Enrichment | TP53 | 1.49 |
| 169 | Cowden syndrome | Enrichment | PTEN | 1.49 |
| 170 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.44 |
| 171 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.44 |
| 172 | Melanoma | Enrichment | PTEN | 1.44 |
| 173 | Familial colorectal cancer | Enrichment | TP53 | 1.44 |
| 174 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.44 |
| 175 | Asthma | Enrichment | TNF | 1.40 |
| 176 | Meningioma, familial | Enrichment | PTEN | 1.40 |
| 177 | Myelodysplastic syndrome | Enrichment | TP53 | 1.40 |
| 178 | Lung non-small cell carcinoma | Enrichment | IRF1 | 1.40 |
| 179 | Uterine corpus cancer | Enrichment | PTEN | 1.40 |
| 180 | Specific learning disability | Enrichment | MAPK1 | 1.40 |
| 181 | Meningioma | Enrichment | PTEN | 1.36 |
| 182 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.36 |
| 183 | Alzheimer's disease | Enrichment | TNF | 1.33 |
| 184 | Protein-deficiency anemia | Enrichment | GATA1 | 1.33 |
| 185 | Multiple sclerosis | Enrichment | TNFRSF1A | 1.30 |
| 186 | Medulloblastoma | Enrichment | CTNNB1 | 1.30 |
| 187 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.30 |
| 188 | Congenital nervous system abnormality | Enrichment | CTNNB1, PTEN | 1.24 |
| 189 | Nervous system disease | Enrichment | CTNNB1, PTEN | 1.24 |
| 190 | Polycystic liver disease | Enrichment | CTNNB1 | 1.22 |
| 191 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.22 |
| 192 | Autism spectrum disorder | Enrichment | GRIN2B, PTEN | 1.21 |
| 193 | Heart, malformation of | Enrichment | MAPK1 | 1.19 |
| 194 | Williams-beuren syndrome | Enrichment | NCF1 | 1.15 |
| 195 | Craniosynostosis | Enrichment | GRIN2B | 1.15 |
| 196 | Endometrial cancer | Enrichment | PTEN | 1.13 |
| 197 | Malaria | Enrichment | TNF | 1.09 |
| 198 | Autoinflammatory disease | Enrichment | TNFRSF1A | 1.07 |
| 199 | Scoliosis | Enrichment | GRIN2B | 1.07 |
| 200 | Inherited cancer-predisposing syndrome | Enrichment | PTEN, TP53 | 1.07 |
| 201 | Pancreatic cancer | Enrichment | TP53 | 1.05 |
| 202 | Systemic lupus erythematosus | Enrichment | TNF | 0.87 |
| 203 | Cerebral palsy | Enrichment | GRIN2B | 0.87 |
| 204 | Leukemia, acute myeloid | Enrichment | TP53 | 0.86 |
| 205 | Epilepsy | Enrichment | GRIN2B | 0.86 |
| 206 | Charcot-marie-tooth disease | Enrichment | HSPB1 | 0.85 |
| 207 | West syndrome | Enrichment | GRIN2B | 0.82 |
| 208 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GRIN2B | 0.77 |
| 209 | Myeloma, multiple | Enrichment | TP53 | 0.73 |
| 210 | Complex neurodevelopmental disorder | Enrichment | GRIN2B | 0.43 |