| 1 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, JAK2, STAT3 | 7.04 |
| 2 | Systemic lupus erythematosus | Enrichment | IL10, IRAK1, SOCS1, TNF, TNFSF4 | 6.06 |
| 3 | Il10-related early-onset inflammatory bowel disease | Enrichment | IL10, IL10RA, IL10RB | 5.74 |
| 4 | Transient predisposition to invasive pyogenic bacterial infection | Enrichment | IRAK4, MYD88 | 4.69 |
| 5 | Psoriatic arthritis | Enrichment | LTA, TNF | 4.21 |
| 6 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.21 |
| 7 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.21 |
| 8 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.21 |
| 9 | Diffuse large b-cell lymphoma | Enrichment | MYD88, SOCS1, STAT3 | 4.08 |
| 10 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 3.91 |
| 11 | Common variable immunodeficiency | Enrichment | CD40LG, NFKB1 | 3.37 |
| 12 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.04 |
| 13 | Nk-cell enteropathy | Enrichment | JAK3, PIK3CB | 2.81 |
| 14 | Behcet syndrome | Enrichment | IL10, TLR4 | 2.48 |
| 15 | Myocardial infarction | Enrichment | LTA, TNFSF4 | 2.35 |
| 16 | Macrodactyly | Enrichment | PIK3CA | 2.34 |
| 17 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.34 |
| 18 | Immunodeficiency 35 | Enrichment | TYK2 | 2.34 |
| 19 | Immunodeficiency 68 | Enrichment | MYD88 | 2.34 |
| 20 | Leprosy 4 | Enrichment | LTA | 2.34 |
| 21 | Macroglobulinemia, waldenstrom 1 | Enrichment | MYD88 | 2.34 |
| 22 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.34 |
| 23 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 2.34 |
| 24 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.34 |
| 25 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.34 |
| 26 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.34 |
| 27 | Immunodeficiency 15b | Enrichment | IKBKB | 2.34 |
| 28 | Stuve-wiedemann syndrome 2 | Enrichment | IL6ST | 2.34 |
| 29 | Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections | Enrichment | IL6ST | 2.34 |
| 30 | Immunodeficiency 15a | Enrichment | IKBKB | 2.34 |
| 31 | Immunodeficiency 92 | Enrichment | REL | 2.34 |
| 32 | Lymphoproliferative syndrome 3 | Enrichment | CD70 | 2.34 |
| 33 | Immunodeficiency with hyper-igm, type 1 | Enrichment | CD40LG | 2.34 |
| 34 | Short syndrome | Enrichment | PIK3R1 | 2.34 |
| 35 | Graft-versus-host disease | Enrichment | IL10 | 2.34 |
| 36 | Oculoskeletodental syndrome | Enrichment | PIK3C2A | 2.34 |
| 37 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.34 |
| 38 | Tooth agenesis, selective, x-linked, 1 | Enrichment | EDA | 2.34 |
| 39 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.34 |
| 40 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.34 |
| 41 | Immunodeficiency 67 | Enrichment | IRAK4 | 2.34 |
| 42 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.34 |
| 43 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.34 |
| 44 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.34 |
| 45 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.34 |
| 46 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.34 |
| 47 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.34 |
| 48 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.34 |
| 49 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 2.34 |
| 50 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.34 |
| 51 | Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections | Enrichment | IL6ST | 2.34 |
| 52 | Immunodeficiency 94 with autoinflammation and dysmorphic facies | Enrichment | IL6ST | 2.34 |
| 53 | Immunodeficiency 53 | Enrichment | RELB | 2.34 |
| 54 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.34 |
| 55 | T-b+ severe combined immunodeficiency due to jak3 deficiency | Enrichment | JAK3 | 2.34 |
| 56 | Hypospadias | Enrichment | PIK3CA | 2.34 |
| 57 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.34 |
| 58 | Rare venous malformation | Enrichment | PIK3CA | 2.34 |
| 59 | Cd40 ligand deficiency | Enrichment | CD40LG | 2.34 |
| 60 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.34 |
| 61 | Waldenstram macroglobulinemia | Enrichment | MYD88 | 2.34 |
| 62 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.34 |
| 63 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.34 |
| 64 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.34 |
| 65 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.34 |
| 66 | Oculocerebrodental syndrome | Enrichment | PIK3C2A | 2.34 |
| 67 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.34 |
| 68 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.34 |
| 69 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.34 |
| 70 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.34 |
| 71 | Macrodactyly of toe | Enrichment | PIK3CA | 2.34 |
| 72 | Severe covid-19 | Enrichment | IL10RB, JAK3 | 2.11 |
| 73 | Immunodeficiency 33 | Enrichment | IRAK4 | 2.04 |
| 74 | Inflammatory bowel disease 28, autosomal recessive | Enrichment | IL10RA | 2.04 |
| 75 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.04 |
| 76 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.04 |
| 77 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.04 |
| 78 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.04 |
| 79 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.04 |
| 80 | Thrombocythemia 3 | Enrichment | JAK2 | 2.04 |
| 81 | Osteopetrosis, autosomal recessive 2 | Enrichment | TNFSF11 | 2.04 |
| 82 | Ectodermal dysplasia 1, hypohidrotic, x-linked | Enrichment | EDA | 2.04 |
| 83 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.04 |
| 84 | Immunodeficiency 127 | Enrichment | TNF | 2.04 |
| 85 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.04 |
| 86 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.04 |
| 87 | Inflammatory bowel disease 28 | Enrichment | IL10RA | 2.04 |
| 88 | Congenital dyserythropoietic anemia | Enrichment | IRAK4 | 2.04 |
| 89 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.04 |
| 90 | Ectodermal dysplasia and immune deficiency | Enrichment | NFKBIA | 2.04 |
| 91 | Immune system disease | Enrichment | PIK3CD | 2.04 |
| 92 | Polycythemia | Enrichment | JAK2 | 2.04 |
| 93 | Lymphomatoid papulosis | Enrichment | TYK2 | 2.04 |
| 94 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.04 |
| 95 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.04 |
| 96 | Primary cutaneous anaplastic large cell lymphoma | Enrichment | TYK2 | 2.04 |
| 97 | Severe combined immunodeficiency | Enrichment | IKBKB, JAK3 | 2.00 |
| 98 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | JAK3 | 1.86 |
| 99 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.86 |
| 100 | Immune thrombocytopenia | Enrichment | SOCS1 | 1.86 |
| 101 | Polycythemia vera | Enrichment | JAK2 | 1.86 |
| 102 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.86 |
| 103 | Tooth agenesis, selective, 2 | Enrichment | EDA | 1.86 |
| 104 | Stuve-wiedemann syndrome 1 | Enrichment | IL6ST | 1.86 |
| 105 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 1.86 |
| 106 | Autoinflammatory syndrome, familial, with or without immunodeficiency | Enrichment | SOCS1 | 1.86 |
| 107 | Hyper ige syndrome | Enrichment | STAT3 | 1.86 |
| 108 | Inflammatory bowel disease 25 | Enrichment | IL10RB | 1.86 |
| 109 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 1.86 |
| 110 | Migraine without aura | Enrichment | TNF | 1.86 |
| 111 | Stüve-wiedemann syndrome | Enrichment | IL6ST | 1.86 |
| 112 | Keratoacanthoma | Enrichment | PIK3CA | 1.86 |
| 113 | Gastric cancer | Enrichment | IL1B, PIK3CA | 1.78 |
| 114 | Kaposi sarcoma | Enrichment | IL6 | 1.74 |
| 115 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.74 |
| 116 | Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | EDA | 1.74 |
| 117 | Anemia, autoimmune hemolytic | Enrichment | SOCS1 | 1.74 |
| 118 | Budd-chiari syndrome | Enrichment | JAK2 | 1.74 |
| 119 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.74 |
| 120 | Ectodermal dysplasia | Enrichment | EDA | 1.74 |
| 121 | Hepatitis b | Enrichment | IL10RB | 1.74 |
| 122 | Cerebrovascular disease | Enrichment | PIK3CA | 1.74 |
| 123 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.74 |
| 124 | Adenosine deaminase deficiency | Enrichment | JAK3 | 1.74 |
| 125 | Autosomal recessive osteopetrosis | Enrichment | TNFSF11 | 1.74 |
| 126 | Cerebral malaria | Enrichment | TNF | 1.74 |
| 127 | Pediatric systemic lupus erythematosus | Enrichment | IRAK1 | 1.74 |
| 128 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.74 |
| 129 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | TRAF6 | 1.64 |
| 130 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.64 |
| 131 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | JAK3 | 1.64 |
| 132 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.64 |
| 133 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.64 |
| 134 | Vascular dementia | Enrichment | TNF | 1.64 |
| 135 | Hemimegalencephaly | Enrichment | PIK3CA | 1.64 |
| 136 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.57 |
| 137 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.57 |
| 138 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.57 |
| 139 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.57 |
| 140 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | IL10RB | 1.57 |
| 141 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.57 |
| 142 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.57 |
| 143 | Nevus, epidermal | Enrichment | PIK3CA | 1.50 |
| 144 | Myelofibrosis | Enrichment | JAK2 | 1.50 |
| 145 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.50 |
| 146 | Essential thrombocythemia | Enrichment | JAK2 | 1.50 |
| 147 | Gallbladder cancer | Enrichment | PIK3CA | 1.50 |
| 148 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.50 |
| 149 | Narcolepsy 1 | Enrichment | TNFSF4 | 1.44 |
| 150 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.44 |
| 151 | Tooth agenesis, selective, 1 | Enrichment | EDA | 1.39 |
| 152 | Rheumatoid arthritis | Enrichment | IL10 | 1.39 |
| 153 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.39 |
| 154 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.39 |
| 155 | Arteriovenous malformation | Enrichment | PIK3CA | 1.39 |
| 156 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.39 |
| 157 | Primary biliary cholangitis | Enrichment | TNFSF15 | 1.39 |
| 158 | Cowden syndrome | Enrichment | PIK3CA | 1.39 |
| 159 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.35 |
| 160 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.35 |
| 161 | Asthma | Enrichment | TNF | 1.31 |
| 162 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.31 |
| 163 | Meningioma | Enrichment | PIK3CA | 1.27 |
| 164 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.27 |
| 165 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.24 |
| 166 | Alzheimer's disease | Enrichment | TNF | 1.24 |
| 167 | Colorectal cancer | Enrichment | PIK3CA, PIK3R1 | 1.22 |
| 168 | Lynch syndrome | Enrichment | PIK3CA | 1.18 |
| 169 | Gliosarcoma | Enrichment | NFKBIA | 1.15 |
| 170 | Giant cell glioblastoma | Enrichment | NFKBIA | 1.13 |
| 171 | Human immunodeficiency virus type 1 | Enrichment | IL10 | 1.10 |
| 172 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.08 |
| 173 | Endometrial cancer | Enrichment | PIK3CA | 1.04 |
| 174 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.02 |
| 175 | Tooth agenesis | Enrichment | EDA | 1.02 |
| 176 | Malaria | Enrichment | TNF | 1.00 |
| 177 | Bladder cancer | Enrichment | PIK3CA | 0.90 |
| 178 | Prostate cancer | Enrichment | PIK3CA | 0.90 |
| 179 | Lung cancer | Enrichment | PIK3CA | 0.86 |
| 180 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.78 |
| 181 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.76 |
| 182 | Hereditary breast carcinoma | Enrichment | PIK3CA | 0.74 |
| 183 | Hypertelorism | Enrichment | PIK3CA | 0.67 |
| 184 | Myeloma, multiple | Enrichment | PIK3R2 | 0.64 |
| 185 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.62 |
| 186 | Breast cancer | Enrichment | PIK3CA | 0.54 |
| 187 | Ovarian cancer | Enrichment | PIK3CA | 0.43 |