| 1 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, JAK2, STAT3 | 6.33 |
| 2 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2, BCL6, MYC | 6.33 |
| 3 | Diffuse large b-cell lymphoma | Enrichment | FOXO1, SOCS1, STAT3, TP53 | 4.90 |
| 4 | Intravascular large b-cell lymphoma | Enrichment | BCL2, BCL6 | 4.22 |
| 5 | Asthma | Enrichment | ALOX5, CCL11, IL13 | 4.14 |
| 6 | Human immunodeficiency virus type 1 | Enrichment | CCL11, CCL2, IL10 | 3.46 |
| 7 | Cerebral malaria | Enrichment | CD36, ICAM1 | 3.44 |
| 8 | Behcet syndrome | Enrichment | IL10, IL12A, IL23R | 3.39 |
| 9 | Rhabdomyosarcoma 2 | Enrichment | FOXO1, TP53 | 3.22 |
| 10 | Follicular lymphoma | Enrichment | BCL2, BCL6 | 3.22 |
| 11 | Histiocytoid hemangioma | Enrichment | FOS, VIM | 3.22 |
| 12 | Malaria | Enrichment | CD36, ICAM1, NOS2 | 3.13 |
| 13 | Chronic mucocutaneous candidiasis | Enrichment | IL17F, STAT1 | 3.05 |
| 14 | Il10-related early-onset inflammatory bowel disease | Enrichment | IL10, TGFB1 | 3.05 |
| 15 | Breast adenocarcinoma | Enrichment | AKT1, TP53 | 3.05 |
| 16 | Essential thrombocythemia | Enrichment | JAK2, TP53 | 2.91 |
| 17 | Leukemia, chronic lymphocytic | Enrichment | CCND1, TP53 | 2.58 |
| 18 | Systemic lupus erythematosus | Enrichment | IL10, ITGAM, SOCS1 | 2.46 |
| 19 | Colorectal cancer | Enrichment | AKT1, CCND1, PIK3R1, TP53 | 2.32 |
| 20 | Proteus syndrome | Enrichment | AKT1 | 2.11 |
| 21 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.11 |
| 22 | Systemic lupus erythematosus 6 | Enrichment | ITGAM | 2.11 |
| 23 | Immunodeficiency 35 | Enrichment | TYK2 | 2.11 |
| 24 | Coronary heart disease 7 | Enrichment | CD36 | 2.11 |
| 25 | Skin/hair/eye pigmentation, variation in, 8 | Enrichment | IRF4 | 2.11 |
| 26 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.11 |
| 27 | Tubulointerstitial kidney disease, autosomal dominant 2 | Enrichment | MUC1 | 2.11 |
| 28 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 2.11 |
| 29 | Candidiasis, familial, 6 | Enrichment | IL17F | 2.11 |
| 30 | Nephrotic syndrome, type 26 | Enrichment | LAMA5 | 2.11 |
| 31 | Hyper-ige syndrome 6, autosomal dominant, with recurrent infections | Enrichment | STAT6 | 2.11 |
| 32 | Immunodeficiency 131 | Enrichment | IRF4 | 2.11 |
| 33 | Short syndrome | Enrichment | PIK3R1 | 2.11 |
| 34 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.11 |
| 35 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.11 |
| 36 | Graft-versus-host disease | Enrichment | IL10 | 2.11 |
| 37 | Papilloma of choroid plexus | Enrichment | TP53 | 2.11 |
| 38 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.11 |
| 39 | Brunner syndrome | Enrichment | MAOA | 2.11 |
| 40 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.11 |
| 41 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.11 |
| 42 | Allergic rhinitis | Enrichment | IL13 | 2.11 |
| 43 | Immunodeficiency 42 | Enrichment | RORC | 2.11 |
| 44 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.11 |
| 45 | Psoriasis 7 | Enrichment | IL23R | 2.11 |
| 46 | Platelet glycoprotein iv deficiency | Enrichment | CD36 | 2.11 |
| 47 | Coronary heart disease 6 | Enrichment | MMP3 | 2.11 |
| 48 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.11 |
| 49 | Immunodeficiency 31a | Enrichment | STAT1 | 2.11 |
| 50 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.11 |
| 51 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.11 |
| 52 | Immunodeficiency 29 | Enrichment | IL12B | 2.11 |
| 53 | Cowden syndrome 6 | Enrichment | AKT1 | 2.11 |
| 54 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.11 |
| 55 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.11 |
| 56 | Inflammatory bowel disease 17 | Enrichment | IL23R | 2.11 |
| 57 | Immunodeficiency 31b | Enrichment | STAT1 | 2.11 |
| 58 | Factor xiii, a subunit, deficiency of | Enrichment | F13A1 | 2.11 |
| 59 | Ductal carcinoma in situ | Enrichment | TP53 | 2.11 |
| 60 | Heme oxygenase 1 deficiency | Enrichment | HMOX1 | 2.11 |
| 61 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.11 |
| 62 | Bent bone dysplasia syndrome 2 | Enrichment | LAMA5 | 2.11 |
| 63 | Serum amyloid a amyloidosis | Enrichment | SAA1 | 2.11 |
| 64 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.11 |
| 65 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.11 |
| 66 | T-b+ severe combined immunodeficiency due to jak3 deficiency | Enrichment | JAK3 | 2.11 |
| 67 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.11 |
| 68 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.11 |
| 69 | Choroid plexus cancer | Enrichment | TP53 | 2.11 |
| 70 | Atherosclerosis | Enrichment | ALOX5 | 2.11 |
| 71 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.11 |
| 72 | Whipple disease | Enrichment | IRF4 | 2.11 |
| 73 | Premature aging | Enrichment | VIM | 2.11 |
| 74 | Lama5-related multisystemic syndrome | Enrichment | LAMA5 | 2.11 |
| 75 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.11 |
| 76 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.11 |
| 77 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 1.81 |
| 78 | Burkitt lymphoma | Enrichment | MYC | 1.81 |
| 79 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome | Enrichment | GATA3 | 1.81 |
| 80 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.81 |
| 81 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.81 |
| 82 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 1.81 |
| 83 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 1.81 |
| 84 | Hemangiopericytoma, malignant | Enrichment | STAT6 | 1.81 |
| 85 | Bruck syndrome 1 | Enrichment | COL1A2 | 1.81 |
| 86 | Robinow-sorauf syndrome | Enrichment | TWIST1 | 1.81 |
| 87 | Cervical cancer | Enrichment | TP53 | 1.81 |
| 88 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 1.81 |
| 89 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.81 |
| 90 | Thrombocythemia 3 | Enrichment | JAK2 | 1.81 |
| 91 | Immunodeficiency 31c | Enrichment | STAT1 | 1.81 |
| 92 | Sweeney-cox syndrome | Enrichment | TWIST1 | 1.81 |
| 93 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A2 | 1.81 |
| 94 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.81 |
| 95 | Recessive dystrophic epidermolysis bullosa | Enrichment | MMP1 | 1.81 |
| 96 | Cataract 30 | Enrichment | VIM | 1.81 |
| 97 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.81 |
| 98 | Congenital fibrosarcoma | Enrichment | TP53 | 1.81 |
| 99 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 1.81 |
| 100 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.81 |
| 101 | Sarcoma | Enrichment | TP53 | 1.81 |
| 102 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 1.81 |
| 103 | Cervix carcinoma | Enrichment | TP53 | 1.81 |
| 104 | Hodgkin's lymphoma | Enrichment | TP53 | 1.81 |
| 105 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | Enrichment | GATA3 | 1.81 |
| 106 | Hypoparathyroidism-deafness-renal disease syndrome | Enrichment | GATA3 | 1.81 |
| 107 | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | Enrichment | RORA | 1.81 |
| 108 | Polycythemia | Enrichment | JAK2 | 1.81 |
| 109 | Metaphyseal anadysplasia | Enrichment | MMP9 | 1.81 |
| 110 | Lymphomatoid papulosis | Enrichment | TYK2 | 1.81 |
| 111 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A2 | 1.81 |
| 112 | Autosomal dominant nonsyndromic deafness | Enrichment | GATA3 | 1.81 |
| 113 | Hypereosinophilic syndrome | Enrichment | JAK2 | 1.81 |
| 114 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 1.81 |
| 115 | Primary mediastinal large b-cell lymphoma | Enrichment | BCL6 | 1.81 |
| 116 | Non-syndromic sagittal craniosynostosis | Enrichment | TWIST1 | 1.81 |
| 117 | Factor xiii deficiency | Enrichment | F13A1 | 1.81 |
| 118 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.81 |
| 119 | Primary cutaneous anaplastic large cell lymphoma | Enrichment | TYK2 | 1.81 |
| 120 | Bladder cancer | Enrichment | CDKN1A, TP53 | 1.67 |
| 121 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | JAK3 | 1.63 |
| 122 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.63 |
| 123 | Craniosynostosis 1 | Enrichment | TWIST1 | 1.63 |
| 124 | Immune thrombocytopenia | Enrichment | SOCS1 | 1.63 |
| 125 | Takayasu arteritis | Enrichment | IL12B | 1.63 |
| 126 | Polycythemia vera | Enrichment | JAK2 | 1.63 |
| 127 | Mycosis fungoides | Enrichment | TNFRSF1B | 1.63 |
| 128 | Severe combined immunodeficiency, x-linked | Enrichment | IL2RG | 1.63 |
| 129 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.63 |
| 130 | Obesity, early-onset, with adrenal insufficiency and red hair | Enrichment | POMC | 1.63 |
| 131 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.63 |
| 132 | Osteogenic sarcoma | Enrichment | TP53 | 1.63 |
| 133 | Combined immunodeficiency, x-linked | Enrichment | IL2RG | 1.63 |
| 134 | Corneal dystrophy, posterior polymorphous, 3 | Enrichment | ZEB1 | 1.63 |
| 135 | Corneal dystrophy, fuchs endothelial, 6 | Enrichment | ZEB1 | 1.63 |
| 136 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.63 |
| 137 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.63 |
| 138 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.63 |
| 139 | Autoinflammatory syndrome, familial, with or without immunodeficiency | Enrichment | SOCS1 | 1.63 |
| 140 | Hyper ige syndrome | Enrichment | STAT3 | 1.63 |
| 141 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.63 |
| 142 | Anaplastic astrocytoma | Enrichment | TP53 | 1.63 |
| 143 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.63 |
| 144 | Squamous cell carcinoma | Enrichment | TP53 | 1.63 |
| 145 | Adenocarcinoma | Enrichment | TP53 | 1.63 |
| 146 | Intraocular pressure quantitative trait locus | Enrichment | ZEB1 | 1.63 |
| 147 | End stage renal disease | Enrichment | GATA3 | 1.63 |
| 148 | Bone osteosarcoma | Enrichment | TP53 | 1.63 |
| 149 | High bone mass osteogenesis imperfecta | Enrichment | COL1A2 | 1.63 |
| 150 | Enchondromatosis | Enrichment | HIF1A | 1.63 |
| 151 | Obesity due to pro-opiomelanocortin deficiency | Enrichment | POMC | 1.63 |
| 152 | Saczary syndrome | Enrichment | TNFRSF1B | 1.63 |
| 153 | Cystic fibrosis | Enrichment | HMOX1, TGFB1 | 1.59 |
| 154 | Kaposi sarcoma | Enrichment | IL6 | 1.51 |
| 155 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A2 | 1.51 |
| 156 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.51 |
| 157 | Small cell cancer of the lung | Enrichment | TP53 | 1.51 |
| 158 | Anemia, autoimmune hemolytic | Enrichment | SOCS1 | 1.51 |
| 159 | Microphthalmia, syndromic 3 | Enrichment | SOX2 | 1.51 |
| 160 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.51 |
| 161 | Budd-chiari syndrome | Enrichment | JAK2 | 1.51 |
| 162 | Saethre-chotzen syndrome | Enrichment | TWIST1 | 1.51 |
| 163 | Schaaf-yang syndrome | Enrichment | NDN | 1.51 |
| 164 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.51 |
| 165 | Mantle cell lymphoma | Enrichment | CCND1 | 1.51 |
| 166 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.51 |
| 167 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.51 |
| 168 | Blood platelet disease | Enrichment | CD36 | 1.51 |
| 169 | Corneal dystrophy | Enrichment | ZEB1 | 1.51 |
| 170 | Adenosine deaminase deficiency | Enrichment | JAK3 | 1.51 |
| 171 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A2 | 1.51 |
| 172 | Non-syndromic bicoronal craniosynostosis | Enrichment | TWIST1 | 1.51 |
| 173 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.51 |
| 174 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.41 |
| 175 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.41 |
| 176 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | JAK3 | 1.41 |
| 177 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.41 |
| 178 | Fuchs' endothelial dystrophy | Enrichment | ZEB1 | 1.41 |
| 179 | Lymphoma | Enrichment | TP53 | 1.41 |
| 180 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.41 |
| 181 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.41 |
| 182 | Leukemia, acute myeloid | Enrichment | JAK2, TP53 | 1.41 |
| 183 | Gastric cancer | Enrichment | IL1B, TP53 | 1.35 |
| 184 | Nephrotic syndrome | Enrichment | FN1, LAMA5 | 1.35 |
| 185 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A2 | 1.34 |
| 186 | Li-fraumeni syndrome | Enrichment | TP53 | 1.34 |
| 187 | Osteogenesis imperfecta, type i | Enrichment | COL1A2 | 1.34 |
| 188 | Corneal dystrophy, posterior polymorphous, 1 | Enrichment | ZEB1 | 1.34 |
| 189 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.34 |
| 190 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.34 |
| 191 | Adrenocortical carcinoma | Enrichment | TP53 | 1.34 |
| 192 | Classic ehlers-danlos syndrome | Enrichment | COL1A2 | 1.34 |
| 193 | Hereditary breast carcinoma | Enrichment | AKT1, TP53 | 1.33 |
| 194 | Esophageal cancer | Enrichment | TP53 | 1.27 |
| 195 | Prader-willi syndrome | Enrichment | NDN | 1.27 |
| 196 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.27 |
| 197 | Osteogenesis imperfecta, type ii | Enrichment | COL1A2 | 1.27 |
| 198 | Thrombophilia due to thrombin defect | Enrichment | F13A1 | 1.27 |
| 199 | Myelofibrosis | Enrichment | JAK2 | 1.27 |
| 200 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.27 |
| 201 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.27 |
| 202 | Gallbladder cancer | Enrichment | TP53 | 1.27 |
| 203 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.27 |
| 204 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.27 |
| 205 | Glioma susceptibility 1 | Enrichment | TP53 | 1.22 |
| 206 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.22 |
| 207 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.22 |
| 208 | Rheumatoid arthritis | Enrichment | IL10 | 1.17 |
| 209 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.17 |
| 210 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.17 |
| 211 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.17 |
| 212 | Primary hyperaldosteronism | Enrichment | TP53 | 1.17 |
| 213 | Primary biliary cholangitis | Enrichment | IL12A | 1.17 |
| 214 | Cowden syndrome | Enrichment | AKT1 | 1.17 |
| 215 | Myeloma, multiple | Enrichment | CCND1, TP53 | 1.15 |
| 216 | Cataract 30, multiple types | Enrichment | VIM | 1.12 |
| 217 | Omenn syndrome | Enrichment | IL2RG | 1.12 |
| 218 | Familial colorectal cancer | Enrichment | TP53 | 1.12 |
| 219 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.12 |
| 220 | Primary bone dysplasia | Enrichment | COL1A2 | 1.12 |
| 221 | Myelodysplastic syndrome | Enrichment | TP53 | 1.08 |
| 222 | Nanophthalmos | Enrichment | SOX2 | 1.08 |
| 223 | Combined immunodeficiency | Enrichment | IL2RG | 1.08 |
| 224 | Osteochondrodysplasia | Enrichment | COL1A2 | 1.08 |
| 225 | Combined t cell and b cell immunodeficiency | Enrichment | IL2RG | 1.08 |
| 226 | Combined t and b cell immunodeficiency | Enrichment | IL2RG | 1.08 |
| 227 | Presynaptic congenital myasthenic syndromes | Enrichment | LAMA5 | 1.08 |
| 228 | Septooptic dysplasia | Enrichment | SOX2 | 1.05 |
| 229 | Meningioma | Enrichment | AKT1 | 1.05 |
| 230 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.05 |
| 231 | Osteogenesis imperfecta, type iv | Enrichment | COL1A2 | 1.01 |
| 232 | Neural tube defects | Enrichment | ITGB1 | 1.01 |
| 233 | Pulmonary disease, chronic obstructive | Enrichment | HMOX1 | 1.01 |
| 234 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.01 |
| 235 | Nk-cell enteropathy | Enrichment | JAK3 | 1.01 |
| 236 | Multiple sclerosis | Enrichment | LAMA5 | 0.98 |
| 237 | Osteoporosis | Enrichment | COL1A2 | 0.98 |
| 238 | Lung cancer susceptibility 3 | Enrichment | TP53 | 0.98 |
| 239 | Osteogenesis imperfecta, type iii | Enrichment | COL1A2 | 0.95 |
| 240 | Breast cancer | Enrichment | AKT1, TP53 | 0.93 |
| 241 | Rhabdomyosarcoma | Enrichment | TP53 | 0.93 |
| 242 | Gliosarcoma | Enrichment | TP53 | 0.93 |
| 243 | Giant cell glioblastoma | Enrichment | TP53 | 0.90 |
| 244 | Arteriovenous malformations of the brain | Enrichment | IL6 | 0.86 |
| 245 | Ehlers-danlos syndrome | Enrichment | COL1A2 | 0.86 |
| 246 | Macs syndrome | Enrichment | SOX2 | 0.84 |
| 247 | Hepatoblastoma | Enrichment | TP53 | 0.82 |
| 248 | Hepatocellular carcinoma | Enrichment | TP53 | 0.80 |
| 249 | Myocardial infarction | Enrichment | F13A1 | 0.80 |
| 250 | Microphthalmia | Enrichment | SOX2 | 0.80 |
| 251 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.78 |
| 252 | Brittle bone disorder | Enrichment | COL1A2 | 0.78 |
| 253 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 0.78 |
| 254 | Pancreatic cancer | Enrichment | TP53 | 0.75 |
| 255 | Ovarian cancer | Enrichment | AKT1, TP53 | 0.73 |
| 256 | Prostate cancer | Enrichment | TP53 | 0.69 |
| 257 | Severe covid-19 | Enrichment | JAK3 | 0.69 |
| 258 | Severe combined immunodeficiency | Enrichment | JAK3 | 0.64 |
| 259 | Cakut | Enrichment | GATA3 | 0.63 |
| 260 | Genetic steroid-resistant nephrotic syndrome | Enrichment | LAMA5 | 0.63 |
| 261 | Diamond-blackfan anemia | Enrichment | TP53 | 0.61 |
| 262 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.55 |
| 263 | Sensorineural hearing loss | Enrichment | HGF | 0.50 |
| 264 | Body mass index quantitative trait locus 11 | Enrichment | POMC | 0.49 |
| 265 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.45 |
| 266 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.43 |
| 267 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF | 0.30 |
| 268 | Complex neurodevelopmental disorder | Enrichment | RORA | 0.21 |
| 269 | Inherited cancer-predisposing syndrome | Enrichment | TP53 | 0.19 |