| 1 | Dysfibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 7.53 |
| 2 | Familial dysfibrinogenemia | Enrichment | FGA, FGB, FGG | 7.53 |
| 3 | Familial hypofibrinogenemia | Enrichment | FGA, FGB, FGG | 7.53 |
| 4 | Afibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 6.93 |
| 5 | Malaria | Enrichment | IKBKG, NOS2, TIRAP, TNF | 6.13 |
| 6 | Immunodeficiency 33 | Enrichment | IKBKG, IRAK4 | 5.01 |
| 7 | Transient predisposition to invasive pyogenic bacterial infection | Enrichment | IRAK4, MYD88 | 5.01 |
| 8 | Multisystem inflammatory syndrome in children | Enrichment | IFNB1, IRF3, TLR3 | 4.36 |
| 9 | Herpes simplex virus encephalitis | Enrichment | TICAM1, TLR3 | 4.01 |
| 10 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.84 |
| 11 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.84 |
| 12 | Systemic lupus erythematosus | Enrichment | IRAK1, ITGAM, TNF | 3.60 |
| 13 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.46 |
| 14 | Meningioma | Enrichment | AKT1, PIK3CA | 3.20 |
| 15 | Human immunodeficiency virus type 1 | Enrichment | CCL2, TLR3 | 2.84 |
| 16 | Colorectal cancer | Enrichment | AKT1, PIK3CA, SRC | 2.58 |
| 17 | Macrodactyly | Enrichment | PIK3CA | 2.50 |
| 18 | Proteus syndrome | Enrichment | AKT1 | 2.50 |
| 19 | Incontinentia pigmenti | Enrichment | IKBKG | 2.50 |
| 20 | Systemic lupus erythematosus 6 | Enrichment | ITGAM | 2.50 |
| 21 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.50 |
| 22 | Immunodeficiency 68 | Enrichment | MYD88 | 2.50 |
| 23 | Macroglobulinemia, waldenstrom 1 | Enrichment | MYD88 | 2.50 |
| 24 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.50 |
| 25 | Immunodeficiency 83 viral infections | Enrichment | TLR3 | 2.50 |
| 26 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.50 |
| 27 | Bacteremia 1 | Enrichment | TIRAP | 2.50 |
| 28 | Fetal encasement syndrome | Enrichment | CHUK | 2.50 |
| 29 | Encephalopathy, acute, infection-induced 7 | Enrichment | IRF3 | 2.50 |
| 30 | Encephalopathy, acute, infection-induced 6 | Enrichment | TICAM1 | 2.50 |
| 31 | Angioedema, hereditary, 4 | Enrichment | PLG | 2.50 |
| 32 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.50 |
| 33 | Immunodeficiency 15b | Enrichment | IKBKB | 2.50 |
| 34 | Immunodeficiency 82 with systemic inflammation | Enrichment | SYK | 2.50 |
| 35 | Immunodeficiency 15a | Enrichment | IKBKB | 2.50 |
| 36 | Immunodeficiency 92 | Enrichment | REL | 2.50 |
| 37 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.50 |
| 38 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.50 |
| 39 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.50 |
| 40 | Immunodeficiency 67 | Enrichment | IRAK4 | 2.50 |
| 41 | Immunodeficiency 29 | Enrichment | IL12B | 2.50 |
| 42 | Cowden syndrome 6 | Enrichment | AKT1 | 2.50 |
| 43 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 2.50 |
| 44 | Thrombocytopenia 6 | Enrichment | SRC | 2.50 |
| 45 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.50 |
| 46 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.50 |
| 47 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.50 |
| 48 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.50 |
| 49 | Congenital fibrinogen deficiency | Enrichment | FGG | 2.50 |
| 50 | Hypospadias | Enrichment | PIK3CA | 2.50 |
| 51 | Colitis | Enrichment | SYK | 2.50 |
| 52 | Rare venous malformation | Enrichment | PIK3CA | 2.50 |
| 53 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.50 |
| 54 | Waldenstram macroglobulinemia | Enrichment | MYD88 | 2.50 |
| 55 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.50 |
| 56 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.50 |
| 57 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.50 |
| 58 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.50 |
| 59 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.50 |
| 60 | Lethal hydranencephaly-diaphragmatic hernia syndrome | Enrichment | PLAT | 2.50 |
| 61 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.50 |
| 62 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.50 |
| 63 | Macrodactyly of toe | Enrichment | PIK3CA | 2.50 |
| 64 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 2.20 |
| 65 | Plasminogen deficiency, type i | Enrichment | PLG | 2.20 |
| 66 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | Enrichment | TYROBP | 2.20 |
| 67 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.20 |
| 68 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 2.20 |
| 69 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.20 |
| 70 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.20 |
| 71 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.20 |
| 72 | Autoimmune disease, multisystem, infantile-onset, 3 | Enrichment | CBLB | 2.20 |
| 73 | Immunodeficiency 127 | Enrichment | TNF | 2.20 |
| 74 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.20 |
| 75 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.20 |
| 76 | Congenital dyserythropoietic anemia | Enrichment | IRAK4 | 2.20 |
| 77 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG | 2.20 |
| 78 | Hereditary angioedema | Enrichment | PLG | 2.20 |
| 79 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.20 |
| 80 | Arthritis | Enrichment | SYK | 2.20 |
| 81 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.20 |
| 82 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 2.07 |
| 83 | Angioedema, hereditary, 1 | Enrichment | PLG | 2.02 |
| 84 | Takayasu arteritis | Enrichment | IL12B | 2.02 |
| 85 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.02 |
| 86 | Psoriatic arthritis | Enrichment | TNF | 2.02 |
| 87 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 2.02 |
| 88 | Migraine without aura | Enrichment | TNF | 2.02 |
| 89 | Keratoacanthoma | Enrichment | PIK3CA | 2.02 |
| 90 | Thrombocytopenia | Enrichment | FGG, SRC | 2.00 |
| 91 | Kaposi sarcoma | Enrichment | IL6 | 1.90 |
| 92 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.90 |
| 93 | Cerebrovascular disease | Enrichment | PIK3CA | 1.90 |
| 94 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.90 |
| 95 | Cerebral malaria | Enrichment | TNF | 1.90 |
| 96 | Pediatric systemic lupus erythematosus | Enrichment | IRAK1 | 1.90 |
| 97 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.90 |
| 98 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | TRAF6 | 1.80 |
| 99 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.80 |
| 100 | Amyloidosis, hereditary systemic 2 | Enrichment | FGA | 1.80 |
| 101 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.80 |
| 102 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.80 |
| 103 | Vascular dementia | Enrichment | TNF | 1.80 |
| 104 | Hemimegalencephaly | Enrichment | PIK3CA | 1.80 |
| 105 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.72 |
| 106 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.72 |
| 107 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.72 |
| 108 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.72 |
| 109 | Nevus, epidermal | Enrichment | PIK3CA | 1.66 |
| 110 | Thrombophilia due to thrombin defect | Enrichment | FGA | 1.66 |
| 111 | Myelofibrosis | Enrichment | SRC | 1.66 |
| 112 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.66 |
| 113 | Gallbladder cancer | Enrichment | PIK3CA | 1.66 |
| 114 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.66 |
| 115 | Breast cancer | Enrichment | AKT1, PIK3CA | 1.63 |
| 116 | Spastic paraplegia 4, autosomal dominant | Enrichment | FGG | 1.60 |
| 117 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.55 |
| 118 | Coronary heart disease 5 | Enrichment | IKBKG | 1.55 |
| 119 | Arteriovenous malformation | Enrichment | PIK3CA | 1.55 |
| 120 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.55 |
| 121 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.50 |
| 122 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.50 |
| 123 | Immune deficiency disease | Enrichment | SYK | 1.46 |
| 124 | Asthma | Enrichment | TNF | 1.46 |
| 125 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.46 |
| 126 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.43 |
| 127 | Alzheimer's disease | Enrichment | TNF | 1.39 |
| 128 | Ovarian cancer | Enrichment | AKT1, PIK3CA | 1.39 |
| 129 | Osteoporosis | Enrichment | SRC | 1.36 |
| 130 | Lynch syndrome | Enrichment | PIK3CA | 1.33 |
| 131 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.23 |
| 132 | Behcet syndrome | Enrichment | TLR4 | 1.23 |
| 133 | Diffuse large b-cell lymphoma | Enrichment | MYD88 | 1.23 |
| 134 | Endometrial cancer | Enrichment | PIK3CA | 1.19 |
| 135 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.17 |
| 136 | Bladder cancer | Enrichment | PIK3CA | 1.06 |
| 137 | Prostate cancer | Enrichment | PIK3CA | 1.06 |
| 138 | Lung cancer | Enrichment | PIK3CA | 1.01 |
| 139 | Cystic fibrosis | Enrichment | PLG | 1.01 |
| 140 | Severe combined immunodeficiency | Enrichment | IKBKB | 1.00 |
| 141 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.90 |
| 142 | Gastric cancer | Enrichment | PIK3CA | 0.89 |
| 143 | Hypertelorism | Enrichment | PIK3CA | 0.82 |