| 1 | Chronic mucocutaneous candidiasis | Enrichment | IL17F, IL17RA, IL17RC, TRAF3IP2 | 8.96 |
| 2 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3, TGFBR1, TGFBR2 | 7.62 |
| 3 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, JAK2, STAT3 | 7.59 |
| 4 | Loeys-dietz syndrome 1 | Enrichment | SMAD2, TGFBR1, TGFBR2 | 7.27 |
| 5 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD2, SMAD3, SMAD4, TGFBR1, TGFBR2 | 6.18 |
| 6 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG, NFKBIA | 5.05 |
| 7 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 4.84 |
| 8 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 4.07 |
| 9 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 3.73 |
| 10 | Type 1 diabetes mellitus | Enrichment | FOXP3, IL6 | 3.67 |
| 11 | Marfan syndrome | Enrichment | TGFBR1, TGFBR2 | 3.20 |
| 12 | Lynch syndrome | Enrichment | CFTR, TGFBR2 | 2.83 |
| 13 | Behcet syndrome | Enrichment | IL23R, TLR4 | 2.83 |
| 14 | Diffuse large b-cell lymphoma | Enrichment | MYD88, STAT3 | 2.83 |
| 15 | Malaria | Enrichment | ICAM1, IKBKG | 2.66 |
| 16 | Ehlers-danlos syndrome | Enrichment | SMAD3, TGFBR2 | 2.63 |
| 17 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.52 |
| 18 | Incontinentia pigmenti | Enrichment | IKBKG | 2.52 |
| 19 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.52 |
| 20 | Immunodeficiency 68 | Enrichment | MYD88 | 2.52 |
| 21 | Macroglobulinemia, waldenstrom 1 | Enrichment | MYD88 | 2.52 |
| 22 | Immunodeficiency 30 | Enrichment | IL12RB1 | 2.52 |
| 23 | Fetal encasement syndrome | Enrichment | CHUK | 2.52 |
| 24 | Candidiasis, familial, 6 | Enrichment | IL17F | 2.52 |
| 25 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.52 |
| 26 | Immunodeficiency 15b | Enrichment | IKBKB | 2.52 |
| 27 | Stuve-wiedemann syndrome 2 | Enrichment | IL6ST | 2.52 |
| 28 | Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections | Enrichment | IL6ST | 2.52 |
| 29 | Immunodeficiency 15a | Enrichment | IKBKB | 2.52 |
| 30 | Immunodeficiency 92 | Enrichment | REL | 2.52 |
| 31 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.52 |
| 32 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.52 |
| 33 | Immunodeficiency 42 | Enrichment | RORC | 2.52 |
| 34 | Psoriasis 7 | Enrichment | IL23R | 2.52 |
| 35 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.52 |
| 36 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.52 |
| 37 | Immunodeficiency 29 | Enrichment | IL12B | 2.52 |
| 38 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.52 |
| 39 | Candidiasis, familial, 9 | Enrichment | IL17RC | 2.52 |
| 40 | Inflammatory bowel disease 17 | Enrichment | IL23R | 2.52 |
| 41 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 2.52 |
| 42 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.52 |
| 43 | Psoriasis | Enrichment | IL17RA | 2.52 |
| 44 | Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections | Enrichment | IL6ST | 2.52 |
| 45 | Immunodeficiency 94 with autoinflammation and dysmorphic facies | Enrichment | IL6ST | 2.52 |
| 46 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.52 |
| 47 | Immunodeficiency 53 | Enrichment | RELB | 2.52 |
| 48 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.52 |
| 49 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.52 |
| 50 | Aquagenic palmoplantar keratoderma | Enrichment | CFTR | 2.52 |
| 51 | Waldenstram macroglobulinemia | Enrichment | MYD88 | 2.52 |
| 52 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.52 |
| 53 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.52 |
| 54 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.52 |
| 55 | Immunodysregulation, polyendocrinopathy, and enteropathy, x-linked | Enrichment | FOXP3 | 2.42 |
| 56 | Skin/hair/eye pigmentation, variation in, 8 | Enrichment | IRF4 | 2.42 |
| 57 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.42 |
| 58 | Immunodeficiency 131 | Enrichment | IRF4 | 2.42 |
| 59 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.42 |
| 60 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.42 |
| 61 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.42 |
| 62 | T-b+ severe combined immunodeficiency due to jak3 deficiency | Enrichment | JAK3 | 2.42 |
| 63 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.42 |
| 64 | Whipple disease | Enrichment | IRF4 | 2.42 |
| 65 | Spermatogenic failure, y-linked, 2 | Enrichment | CFTR | 2.22 |
| 66 | Immunodeficiency 33 | Enrichment | IKBKG | 2.22 |
| 67 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.22 |
| 68 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.22 |
| 69 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 2.22 |
| 70 | Thrombocythemia 3 | Enrichment | JAK2 | 2.22 |
| 71 | Immunodeficiency 51 | Enrichment | IL17RA | 2.22 |
| 72 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.22 |
| 73 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.22 |
| 74 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.22 |
| 75 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.22 |
| 76 | Polycythemia | Enrichment | JAK2 | 2.22 |
| 77 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.22 |
| 78 | Transient predisposition to invasive pyogenic bacterial infection | Enrichment | MYD88 | 2.22 |
| 79 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.22 |
| 80 | Discoid lupus erythematosus | Enrichment | TRAF3IP2 | 2.22 |
| 81 | Cystic fibrosis | Enrichment | CFTR, TGFB1 | 2.18 |
| 82 | Connective tissue disease | Enrichment | SMAD3, TGFBR2 | 2.18 |
| 83 | Severe combined immunodeficiency | Enrichment | IKBKB, JAK3 | 2.15 |
| 84 | Myhre syndrome | Enrichment | SMAD4 | 2.12 |
| 85 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.12 |
| 86 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | Enrichment | FOXP3 | 2.12 |
| 87 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.12 |
| 88 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 2.12 |
| 89 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.12 |
| 90 | Immunodeficiency 31c | Enrichment | IL21R | 2.12 |
| 91 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.12 |
| 92 | Immunodeficiency 56 | Enrichment | IL21R | 2.12 |
| 93 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.12 |
| 94 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.04 |
| 95 | Takayasu arteritis | Enrichment | IL12B | 2.04 |
| 96 | Polycythemia vera | Enrichment | JAK2 | 2.04 |
| 97 | Stuve-wiedemann syndrome 1 | Enrichment | IL6ST | 2.04 |
| 98 | Nuchal bleb, familial | Enrichment | CFTR | 2.04 |
| 99 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 2.04 |
| 100 | Psoriasis 13 | Enrichment | TRAF3IP2 | 2.04 |
| 101 | Hyper ige syndrome | Enrichment | STAT3 | 2.04 |
| 102 | Candidiasis, familial, 8 | Enrichment | TRAF3IP2 | 2.04 |
| 103 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 2.04 |
| 104 | Stüve-wiedemann syndrome | Enrichment | IL6ST | 2.04 |
| 105 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | JAK3 | 1.94 |
| 106 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.94 |
| 107 | Severe combined immunodeficiency, x-linked | Enrichment | IL2RG | 1.94 |
| 108 | Combined immunodeficiency, x-linked | Enrichment | IL2RG | 1.94 |
| 109 | Immunodeficiency, common variable, 11 | Enrichment | IL21 | 1.94 |
| 110 | Kaposi sarcoma | Enrichment | IL6 | 1.92 |
| 111 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.92 |
| 112 | Budd-chiari syndrome | Enrichment | JAK2 | 1.92 |
| 113 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.92 |
| 114 | Idiopathic bronchiectasis | Enrichment | CFTR | 1.92 |
| 115 | Cerebral malaria | Enrichment | ICAM1 | 1.92 |
| 116 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.92 |
| 117 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | TRAF6 | 1.82 |
| 118 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.82 |
| 119 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.82 |
| 120 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.82 |
| 121 | Adenosine deaminase deficiency | Enrichment | JAK3 | 1.82 |
| 122 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | JAK3 | 1.72 |
| 123 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.72 |
| 124 | Myelofibrosis | Enrichment | JAK2 | 1.68 |
| 125 | Essential thrombocythemia | Enrichment | JAK2 | 1.68 |
| 126 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.64 |
| 127 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.64 |
| 128 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.64 |
| 129 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.62 |
| 130 | Esophageal cancer | Enrichment | TGFBR2 | 1.58 |
| 131 | Gallbladder cancer | Enrichment | SMAD4 | 1.58 |
| 132 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.58 |
| 133 | Bronchiectasis with or without elevated sweat chloride 1 | Enrichment | CFTR | 1.57 |
| 134 | Vas deferens, congenital bilateral aplasia of | Enrichment | CFTR | 1.57 |
| 135 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.57 |
| 136 | Coronary heart disease 5 | Enrichment | IKBKG | 1.57 |
| 137 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.57 |
| 138 | Primary biliary cholangitis | Enrichment | IL12RB1 | 1.57 |
| 139 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.53 |
| 140 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.47 |
| 141 | Hydrops fetalis | Enrichment | FOXP3 | 1.47 |
| 142 | Omenn syndrome | Enrichment | IL2RG | 1.42 |
| 143 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.41 |
| 144 | Pectus excavatum | Enrichment | TGFBR1 | 1.38 |
| 145 | Combined immunodeficiency | Enrichment | IL2RG | 1.38 |
| 146 | Combined t cell and b cell immunodeficiency | Enrichment | IL2RG | 1.38 |
| 147 | Combined t and b cell immunodeficiency | Enrichment | IL2RG | 1.38 |
| 148 | Hereditary chronic pancreatitis | Enrichment | CFTR | 1.38 |
| 149 | Gliosarcoma | Enrichment | NFKBIA | 1.33 |
| 150 | Nk-cell enteropathy | Enrichment | JAK3 | 1.31 |
| 151 | Pancreatitis, hereditary | Enrichment | CFTR | 1.30 |
| 152 | Giant cell glioblastoma | Enrichment | NFKBIA | 1.30 |
| 153 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.28 |
| 154 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.25 |
| 155 | Centronuclear myopathy | Enrichment | FOXP3 | 1.11 |
| 156 | Pancreatic cancer | Enrichment | SMAD4 | 1.04 |
| 157 | Male infertility | Enrichment | CFTR | 1.01 |
| 158 | Severe covid-19 | Enrichment | JAK3 | 0.98 |
| 159 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.94 |
| 160 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.92 |
| 161 | Gastric cancer | Enrichment | SMAD4 | 0.82 |
| 162 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | CFTR | 0.81 |
| 163 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.79 |
| 164 | Thrombocytopenia | Enrichment | SMAD4 | 0.77 |
| 165 | Colorectal cancer | Enrichment | SMAD4 | 0.55 |
| 166 | Inherited cancer-predisposing syndrome | Enrichment | SMAD4 | 0.40 |