| 1 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 | 11.17 |
| 2 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 | 9.44 |
| 3 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, JAK2, STAT3 | 7.22 |
| 4 | Loeys-dietz syndrome 1 | Enrichment | SMAD2, TGFBR1, TGFBR2 | 7.22 |
| 5 | Marfan syndrome | Enrichment | TGFB2, TGFBR1, TGFBR2 | 5.66 |
| 6 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 5.14 |
| 7 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 5.14 |
| 8 | Immunodeficiency 31c | Enrichment | IL21R, STAT1 | 4.81 |
| 9 | Behcet syndrome | Enrichment | IL23R, STAT4, TLR4 | 4.26 |
| 10 | Ehlers-danlos syndrome | Enrichment | SMAD3, TGFB2, TGFBR2 | 4.26 |
| 11 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 4.03 |
| 12 | Chronic mucocutaneous candidiasis | Enrichment | IL17F, IL17RA | 3.97 |
| 13 | Human immunodeficiency virus type 1 | Enrichment | IFNG, TLR3 | 2.97 |
| 14 | Acute promyelocytic leukemia | Enrichment | STAT3, STAT5B | 2.93 |
| 15 | Multisystem inflammatory syndrome in children | Enrichment | TLR3, TLR6 | 2.79 |
| 16 | Leprosy 3 | Enrichment | TLR2 | 2.56 |
| 17 | Legionnaire disease | Enrichment | TLR5 | 2.56 |
| 18 | Immunodeficiency 83 viral infections | Enrichment | TLR3 | 2.56 |
| 19 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.56 |
| 20 | Leprosy 5 | Enrichment | TLR1 | 2.56 |
| 21 | Candidiasis, familial, 6 | Enrichment | IL17F | 2.56 |
| 22 | Immunodeficiency 69 | Enrichment | IFNG | 2.56 |
| 23 | Stuve-wiedemann syndrome 2 | Enrichment | IL6ST | 2.56 |
| 24 | Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections | Enrichment | IL6ST | 2.56 |
| 25 | Immunodeficiency 74, covid19-related, x-linked | Enrichment | TLR7 | 2.56 |
| 26 | Systemic lupus erythematosus 1 | Enrichment | TLR5 | 2.56 |
| 27 | X-linked immunodeficiency 74 | Enrichment | TLR7 | 2.56 |
| 28 | Systemic lupus erythematosus 17 | Enrichment | TLR7 | 2.56 |
| 29 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.56 |
| 30 | Immunodeficiency 42 | Enrichment | RORC | 2.56 |
| 31 | Psoriasis 7 | Enrichment | IL23R | 2.56 |
| 32 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.56 |
| 33 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.56 |
| 34 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.56 |
| 35 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.56 |
| 36 | Immunodeficiency 29 | Enrichment | IL12B | 2.56 |
| 37 | Graham little-piccardi-lassueur syndrome | Enrichment | HLA-DRA | 2.56 |
| 38 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.56 |
| 39 | Melioidosis | Enrichment | TLR5 | 2.56 |
| 40 | Inflammatory bowel disease 17 | Enrichment | IL23R | 2.56 |
| 41 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 2.56 |
| 42 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.56 |
| 43 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.56 |
| 44 | Psoriasis | Enrichment | IL17RA | 2.56 |
| 45 | Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections | Enrichment | IL6ST | 2.56 |
| 46 | Immunodeficiency 94 with autoinflammation and dysmorphic facies | Enrichment | IL6ST | 2.56 |
| 47 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.56 |
| 48 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.56 |
| 49 | Immunodeficiency 35 | Enrichment | TYK2 | 2.40 |
| 50 | Immunodeficiency 30 | Enrichment | IL12RB1 | 2.40 |
| 51 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.40 |
| 52 | Disabling pansclerotic morphea of childhood | Enrichment | STAT4 | 2.40 |
| 53 | Okt4 epitope deficiency | Enrichment | CD4 | 2.40 |
| 54 | Immunodeficiency 18 | Enrichment | CD3E | 2.40 |
| 55 | Systemic lupus erythematosus 11 | Enrichment | STAT4 | 2.40 |
| 56 | Chronic recurrent multifocal osteomyelitis 3 | Enrichment | IL1R1 | 2.40 |
| 57 | Immunodeficiency 31a | Enrichment | STAT1 | 2.40 |
| 58 | Pulmonary hypertension, primary, 2 | Enrichment | SMAD9 | 2.40 |
| 59 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.40 |
| 60 | Immunodeficiency 31b | Enrichment | STAT1 | 2.40 |
| 61 | Immunodeficiency 123 with hpv-related verrucosis | Enrichment | CD28 | 2.40 |
| 62 | Immunodeficiency 79 | Enrichment | CD4 | 2.40 |
| 63 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.40 |
| 64 | T-b+ severe combined immunodeficiency due to jak3 deficiency | Enrichment | JAK3 | 2.40 |
| 65 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.40 |
| 66 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.40 |
| 67 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.26 |
| 68 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 2.26 |
| 69 | Immunodeficiency 51 | Enrichment | IL17RA | 2.26 |
| 70 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.26 |
| 71 | Immunodeficiency 56 | Enrichment | IL21R | 2.26 |
| 72 | Leprosy 1 | Enrichment | TLR6 | 2.26 |
| 73 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.26 |
| 74 | Connective tissue disease | Enrichment | SMAD3, TGFBR2 | 2.15 |
| 75 | Severe combined immunodeficiency | Enrichment | CD3E, JAK3 | 2.12 |
| 76 | Myhre syndrome | Enrichment | SMAD4 | 2.10 |
| 77 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.10 |
| 78 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.10 |
| 79 | Thrombocythemia 3 | Enrichment | JAK2 | 2.10 |
| 80 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.10 |
| 81 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.10 |
| 82 | Polycythemia | Enrichment | JAK2 | 2.10 |
| 83 | Lymphomatoid papulosis | Enrichment | TYK2 | 2.10 |
| 84 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.10 |
| 85 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.10 |
| 86 | Primary cutaneous anaplastic large cell lymphoma | Enrichment | TYK2 | 2.10 |
| 87 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.09 |
| 88 | Takayasu arteritis | Enrichment | IL12B | 2.09 |
| 89 | Tuberous sclerosis 1 | Enrichment | IFNG | 2.09 |
| 90 | Severe combined immunodeficiency, x-linked | Enrichment | IL2RG | 2.09 |
| 91 | Stuve-wiedemann syndrome 1 | Enrichment | IL6ST | 2.09 |
| 92 | Combined immunodeficiency, x-linked | Enrichment | IL2RG | 2.09 |
| 93 | Hepatitis c virus | Enrichment | IFNG | 2.09 |
| 94 | Tuberous sclerosis 2 | Enrichment | IFNG | 2.09 |
| 95 | Hyper ige syndrome | Enrichment | STAT3 | 2.09 |
| 96 | Immunodeficiency, common variable, 11 | Enrichment | IL21 | 2.09 |
| 97 | Stüve-wiedemann syndrome | Enrichment | IL6ST | 2.09 |
| 98 | Systemic lupus erythematosus | Enrichment | STAT4, TLR7 | 1.98 |
| 99 | Kaposi sarcoma | Enrichment | IL6 | 1.96 |
| 100 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.96 |
| 101 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | JAK3 | 1.92 |
| 102 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.92 |
| 103 | Polycythemia vera | Enrichment | JAK2 | 1.92 |
| 104 | Mycosis fungoides | Enrichment | CD28 | 1.92 |
| 105 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | TLR8 | 1.92 |
| 106 | T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta | Enrichment | CD3E | 1.92 |
| 107 | Pulmonary arterial hypertension associated with congenital heart disease | Enrichment | SMAD9 | 1.92 |
| 108 | Saczary syndrome | Enrichment | CD28 | 1.92 |
| 109 | Gastric cancer | Enrichment | IL1B, SMAD4 | 1.90 |
| 110 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.87 |
| 111 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.87 |
| 112 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.87 |
| 113 | Herpes simplex virus encephalitis | Enrichment | TLR3 | 1.87 |
| 114 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.87 |
| 115 | Familial cerebral saccular aneurysm | Enrichment | TGFBR3 | 1.87 |
| 116 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.80 |
| 117 | Anemia, autoimmune hemolytic | Enrichment | TLR8 | 1.80 |
| 118 | Budd-chiari syndrome | Enrichment | JAK2 | 1.80 |
| 119 | Adenosine deaminase deficiency | Enrichment | JAK3 | 1.80 |
| 120 | Pediatric systemic lupus erythematosus | Enrichment | STAT4 | 1.80 |
| 121 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.79 |
| 122 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.79 |
| 123 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.79 |
| 124 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.79 |
| 125 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.79 |
| 126 | Esophageal cancer | Enrichment | TGFBR2 | 1.72 |
| 127 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | JAK3 | 1.70 |
| 128 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.70 |
| 129 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.70 |
| 130 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.67 |
| 131 | Rheumatoid arthritis | Enrichment | TLR1 | 1.61 |
| 132 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.61 |
| 133 | Omenn syndrome | Enrichment | IL2RG | 1.57 |
| 134 | Aplastic anemia | Enrichment | IFNG | 1.57 |
| 135 | Myelofibrosis | Enrichment | JAK2 | 1.56 |
| 136 | Essential thrombocythemia | Enrichment | JAK2 | 1.56 |
| 137 | Gallbladder cancer | Enrichment | SMAD4 | 1.56 |
| 138 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.56 |
| 139 | Oligoarticular juvenile idiopathic arthritis | Enrichment | STAT4 | 1.56 |
| 140 | Rheumatoid factor-negative juvenile idiopathic arthritis | Enrichment | STAT4 | 1.56 |
| 141 | Pectus excavatum | Enrichment | TGFBR1 | 1.53 |
| 142 | Combined immunodeficiency | Enrichment | IL2RG | 1.53 |
| 143 | Combined t cell and b cell immunodeficiency | Enrichment | IL2RG | 1.53 |
| 144 | Combined t and b cell immunodeficiency | Enrichment | IL2RG | 1.53 |
| 145 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.49 |
| 146 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.49 |
| 147 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.45 |
| 148 | Primary biliary cholangitis | Enrichment | IL12RB1 | 1.45 |
| 149 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.45 |
| 150 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 1.43 |
| 151 | Lynch syndrome | Enrichment | TGFBR2 | 1.40 |
| 152 | Heritable pulmonary arterial hypertension | Enrichment | SMAD9 | 1.37 |
| 153 | Colorectal cancer | Enrichment | SMAD4, TLR2 | 1.33 |
| 154 | Nk-cell enteropathy | Enrichment | JAK3 | 1.30 |
| 155 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.30 |
| 156 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 1.30 |
| 157 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.26 |
| 158 | Cystic fibrosis | Enrichment | TGFB1 | 1.08 |
| 159 | Pancreatic cancer | Enrichment | SMAD4 | 1.02 |
| 160 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.96 |
| 161 | Severe covid-19 | Enrichment | JAK3 | 0.96 |
| 162 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.83 |
| 163 | Thrombocytopenia | Enrichment | SMAD4 | 0.76 |
| 164 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.68 |
| 165 | Inherited cancer-predisposing syndrome | Enrichment | SMAD4 | 0.39 |