| 1 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 4.72 |
| 2 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 4.72 |
| 3 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.24 |
| 4 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, JAK2 | 4.24 |
| 5 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 4.24 |
| 6 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 3.94 |
| 7 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 3.94 |
| 8 | Myeloproliferative neoplasm | Enrichment | CBL, JAK2 | 3.72 |
| 9 | Hemimegalencephaly | Enrichment | MTOR, PIK3CA | 3.72 |
| 10 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2 | 3.54 |
| 11 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 3.54 |
| 12 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.54 |
| 13 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 3.54 |
| 14 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 3.40 |
| 15 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.40 |
| 16 | Systemic lupus erythematosus | Enrichment | ETS1, IL10, SOCS1 | 3.17 |
| 17 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.17 |
| 18 | Type 2 diabetes mellitus | Enrichment | HMGA1, IRS1, IRS2 | 3.08 |
| 19 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1, SPI1 | 3.07 |
| 20 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 3.07 |
| 21 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 2.99 |
| 22 | Meningioma | Enrichment | AKT1, PIK3CA | 2.91 |
| 23 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 2.84 |
| 24 | Osteoporosis | Enrichment | COL1A1, COL1A2 | 2.77 |
| 25 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 2.71 |
| 26 | Human immunodeficiency virus type 1 | Enrichment | CCL11, IL10 | 2.55 |
| 27 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 2.50 |
| 28 | Myocardial infarction | Enrichment | ITGB3, LTA | 2.38 |
| 29 | Macrodactyly | Enrichment | PIK3CA | 2.35 |
| 30 | Proteus syndrome | Enrichment | AKT1 | 2.35 |
| 31 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.35 |
| 32 | Leprosy 4 | Enrichment | LTA | 2.35 |
| 33 | Charcot-marie-tooth disease, demyelinating, type 1d | Enrichment | EGR2 | 2.35 |
| 34 | Skin/hair/eye pigmentation, variation in, 8 | Enrichment | IRF4 | 2.35 |
| 35 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.35 |
| 36 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 2.35 |
| 37 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.35 |
| 38 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.35 |
| 39 | Agammaglobulinemia 10, autosomal dominant | Enrichment | SPI1 | 2.35 |
| 40 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.35 |
| 41 | Hyper-ige syndrome 6, autosomal dominant, with recurrent infections | Enrichment | STAT6 | 2.35 |
| 42 | Immunodeficiency with hyper-igm, type 1 | Enrichment | CD40LG | 2.35 |
| 43 | Immunodeficiency 131 | Enrichment | IRF4 | 2.35 |
| 44 | Short syndrome | Enrichment | PIK3R1 | 2.35 |
| 45 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.35 |
| 46 | Graft-versus-host disease | Enrichment | IL10 | 2.35 |
| 47 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.35 |
| 48 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.35 |
| 49 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.35 |
| 50 | Cowden syndrome 6 | Enrichment | AKT1 | 2.35 |
| 51 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.35 |
| 52 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.35 |
| 53 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.35 |
| 54 | T-b+ severe combined immunodeficiency due to jak3 deficiency | Enrichment | JAK3 | 2.35 |
| 55 | Hypospadias | Enrichment | PIK3CA | 2.35 |
| 56 | Charcot-marie-tooth disease type 1d | Enrichment | EGR2 | 2.35 |
| 57 | Agammaglobulinemia | Enrichment | SPI1 | 2.35 |
| 58 | Rare venous malformation | Enrichment | PIK3CA | 2.35 |
| 59 | Vegetative pyoderma gangrenosum | Enrichment | PTPN6 | 2.35 |
| 60 | Bullous pyoderma gangrenosum | Enrichment | PTPN6 | 2.35 |
| 61 | Cd40 ligand deficiency | Enrichment | CD40LG | 2.35 |
| 62 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.35 |
| 63 | Pustular pyoderma gangrenosum | Enrichment | PTPN6 | 2.35 |
| 64 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.35 |
| 65 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.35 |
| 66 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.35 |
| 67 | Whipple disease | Enrichment | IRF4 | 2.35 |
| 68 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.35 |
| 69 | Classic pyoderma gangrenosum | Enrichment | PTPN6 | 2.35 |
| 70 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.35 |
| 71 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.35 |
| 72 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.35 |
| 73 | Macrodactyly of toe | Enrichment | PIK3CA | 2.35 |
| 74 | Breast cancer | Enrichment | AKT1, PIK3CA, SHC1 | 2.35 |
| 75 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 2.34 |
| 76 | Colorectal cancer | Enrichment | AKT1, PIK3CA, PIK3R1 | 2.17 |
| 77 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.05 |
| 78 | Hemangiopericytoma, malignant | Enrichment | STAT6 | 2.05 |
| 79 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.05 |
| 80 | Argininemia | Enrichment | ARG1 | 2.05 |
| 81 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.05 |
| 82 | Ovarian germ cell cancer | Enrichment | CBL | 2.05 |
| 83 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.05 |
| 84 | Immunodeficiency with hyper-igm, type 2 | Enrichment | AICDA | 2.05 |
| 85 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.05 |
| 86 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | Enrichment | EGR2 | 2.05 |
| 87 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.05 |
| 88 | Thrombocythemia 3 | Enrichment | JAK2 | 2.05 |
| 89 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.05 |
| 90 | Cebalid syndrome | Enrichment | MTOR | 2.05 |
| 91 | Intravascular large b-cell lymphoma | Enrichment | BCL6 | 2.05 |
| 92 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.05 |
| 93 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.05 |
| 94 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.05 |
| 95 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.05 |
| 96 | Polycythemia | Enrichment | JAK2 | 2.05 |
| 97 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.05 |
| 98 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.05 |
| 99 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.05 |
| 100 | Primary mediastinal large b-cell lymphoma | Enrichment | BCL6 | 2.05 |
| 101 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.05 |
| 102 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | JAK3 | 1.88 |
| 103 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.88 |
| 104 | Jacobsen syndrome | Enrichment | ETS1 | 1.88 |
| 105 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.88 |
| 106 | Immune thrombocytopenia | Enrichment | SOCS1 | 1.88 |
| 107 | Polycythemia vera | Enrichment | JAK2 | 1.88 |
| 108 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.88 |
| 109 | Severe combined immunodeficiency, x-linked | Enrichment | IL2RG | 1.88 |
| 110 | Combined immunodeficiency, x-linked | Enrichment | IL2RG | 1.88 |
| 111 | Psoriatic arthritis | Enrichment | LTA | 1.88 |
| 112 | Caffey disease | Enrichment | COL1A1 | 1.88 |
| 113 | Neutrophilic dermatosis, acute febrile | Enrichment | PTPN6 | 1.88 |
| 114 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.88 |
| 115 | Autoinflammatory syndrome, familial, with or without immunodeficiency | Enrichment | SOCS1 | 1.88 |
| 116 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL6 | 1.88 |
| 117 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.88 |
| 118 | Charcot-marie-tooth disease type 1 | Enrichment | EGR2 | 1.88 |
| 119 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.88 |
| 120 | Keratoacanthoma | Enrichment | PIK3CA | 1.88 |
| 121 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 1.79 |
| 122 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.76 |
| 123 | Anemia, autoimmune hemolytic | Enrichment | SOCS1 | 1.76 |
| 124 | Phenylketonuria | Enrichment | COL1A1 | 1.76 |
| 125 | Budd-chiari syndrome | Enrichment | JAK2 | 1.76 |
| 126 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.76 |
| 127 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.76 |
| 128 | Cerebrovascular disease | Enrichment | PIK3CA | 1.76 |
| 129 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL | 1.76 |
| 130 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.76 |
| 131 | Adenosine deaminase deficiency | Enrichment | JAK3 | 1.76 |
| 132 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.76 |
| 133 | Hypertrophic neuropathy of dejerine-sottas | Enrichment | EGR2 | 1.66 |
| 134 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.66 |
| 135 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | JAK3 | 1.66 |
| 136 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.66 |
| 137 | Follicular lymphoma | Enrichment | BCL6 | 1.66 |
| 138 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.66 |
| 139 | Hypertelorism | Enrichment | COL1A1, PIK3CA | 1.65 |
| 140 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.58 |
| 141 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.58 |
| 142 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.58 |
| 143 | Keratoconus | Enrichment | COL1A1 | 1.58 |
| 144 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.58 |
| 145 | Il10-related early-onset inflammatory bowel disease | Enrichment | IL10 | 1.58 |
| 146 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.58 |
| 147 | Nevus, epidermal | Enrichment | PIK3CA | 1.51 |
| 148 | Myelofibrosis | Enrichment | JAK2 | 1.51 |
| 149 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.51 |
| 150 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.51 |
| 151 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.51 |
| 152 | Essential thrombocythemia | Enrichment | JAK2 | 1.51 |
| 153 | Gallbladder cancer | Enrichment | PIK3CA | 1.51 |
| 154 | Common variable immunodeficiency | Enrichment | CD40LG | 1.51 |
| 155 | Rheumatoid arthritis | Enrichment | IL10 | 1.41 |
| 156 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.41 |
| 157 | Arteriovenous malformation | Enrichment | PIK3CA | 1.41 |
| 158 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.41 |
| 159 | Omenn syndrome | Enrichment | IL2RG | 1.36 |
| 160 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.36 |
| 161 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.36 |
| 162 | Asthma | Enrichment | CCL11 | 1.32 |
| 163 | Combined immunodeficiency | Enrichment | IL2RG | 1.32 |
| 164 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.32 |
| 165 | Combined t cell and b cell immunodeficiency | Enrichment | IL2RG | 1.32 |
| 166 | Combined t and b cell immunodeficiency | Enrichment | IL2RG | 1.32 |
| 167 | Juvenile myelomonocytic leukemia | Enrichment | CBL | 1.29 |
| 168 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.29 |
| 169 | Acute promyelocytic leukemia | Enrichment | STAT5B | 1.25 |
| 170 | Nk-cell enteropathy | Enrichment | JAK3 | 1.25 |
| 171 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.19 |
| 172 | Lynch syndrome | Enrichment | PIK3CA | 1.19 |
| 173 | Rare genetic intellectual disability | Enrichment | MTOR | 1.19 |
| 174 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL | 1.19 |
| 175 | Rhabdomyosarcoma | Enrichment | CBL | 1.16 |
| 176 | Ovarian cancer | Enrichment | AKT1, PIK3CA | 1.13 |
| 177 | Charcot-marie-tooth disease type 4 | Enrichment | EGR2 | 1.11 |
| 178 | Behcet syndrome | Enrichment | IL10 | 1.09 |
| 179 | Diffuse large b-cell lymphoma | Enrichment | SOCS1 | 1.09 |
| 180 | Endometrial cancer | Enrichment | PIK3CA | 1.05 |
| 181 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.03 |
| 182 | Noonan syndrome 1 | Enrichment | CBL | 1.01 |
| 183 | Rasopathy | Enrichment | CBL | 0.96 |
| 184 | Bladder cancer | Enrichment | PIK3CA | 0.92 |
| 185 | Prostate cancer | Enrichment | PIK3CA | 0.92 |
| 186 | Severe covid-19 | Enrichment | JAK3 | 0.92 |
| 187 | Lung cancer | Enrichment | PIK3CA | 0.88 |
| 188 | Severe combined immunodeficiency | Enrichment | JAK3 | 0.87 |
| 189 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.79 |
| 190 | Gastric cancer | Enrichment | PIK3CA | 0.76 |
| 191 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1 | 0.75 |
| 192 | Thrombocytopenia | Enrichment | ITGB3 | 0.72 |
| 193 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.64 |