| 1 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.85 |
| 2 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 4.55 |
| 3 | Colorectal cancer | Enrichment | EP300, PIK3CA, PIK3R1, SRC | 4.42 |
| 4 | Lung squamous cell carcinoma | Enrichment | ALK, PIK3CA | 4.15 |
| 5 | Neuroblastoma | Enrichment | ALK, MYCN | 3.88 |
| 6 | Neuroblastoma 3 | Enrichment | ALK | 3.53 |
| 7 | Alk-positive anaplastic large cell lymphoma | Enrichment | ALK | 3.53 |
| 8 | Alk-positive large b-cell lymphoma | Enrichment | ALK | 3.53 |
| 9 | Nk-cell enteropathy | Enrichment | JAK3, PIK3CB | 3.44 |
| 10 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 3.09 |
| 11 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 3.09 |
| 12 | Autoimmune disease, multisystem, infantile-onset, 5 | Enrichment | CD274 | 3.09 |
| 13 | Chromosome 15q24 deletion syndrome | Enrichment | SIN3A | 3.09 |
| 14 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 3.09 |
| 15 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 3.09 |
| 16 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.79 |
| 17 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | Enrichment | DNMT1 | 2.79 |
| 18 | Witteveen-kolk syndrome | Enrichment | SIN3A | 2.79 |
| 19 | Inflammatory myofibroblastic tumor | Enrichment | ALK | 2.75 |
| 20 | Macrodactyly | Enrichment | PIK3CA | 2.66 |
| 21 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.66 |
| 22 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.66 |
| 23 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.66 |
| 24 | Short syndrome | Enrichment | PIK3R1 | 2.66 |
| 25 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.66 |
| 26 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.66 |
| 27 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.66 |
| 28 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.66 |
| 29 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.66 |
| 30 | Thrombocytopenia 6 | Enrichment | SRC | 2.66 |
| 31 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.66 |
| 32 | T-b+ severe combined immunodeficiency due to jak3 deficiency | Enrichment | JAK3 | 2.66 |
| 33 | Hypospadias | Enrichment | PIK3CA | 2.66 |
| 34 | Rare venous malformation | Enrichment | PIK3CA | 2.66 |
| 35 | Vegetative pyoderma gangrenosum | Enrichment | PTPN6 | 2.66 |
| 36 | Bullous pyoderma gangrenosum | Enrichment | PTPN6 | 2.66 |
| 37 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.66 |
| 38 | Pustular pyoderma gangrenosum | Enrichment | PTPN6 | 2.66 |
| 39 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.66 |
| 40 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.66 |
| 41 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.66 |
| 42 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.66 |
| 43 | Classic pyoderma gangrenosum | Enrichment | PTPN6 | 2.66 |
| 44 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.66 |
| 45 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.66 |
| 46 | Macrodactyly of toe | Enrichment | PIK3CA | 2.66 |
| 47 | Lung cancer | Enrichment | ALK, PIK3CA | 2.65 |
| 48 | Melanocytic nevus syndrome, congenital | Enrichment | ALK | 2.63 |
| 49 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.61 |
| 50 | Severe combined immunodeficiency, x-linked | Enrichment | IL2RG | 2.61 |
| 51 | Combined immunodeficiency, x-linked | Enrichment | IL2RG | 2.61 |
| 52 | Neuropathy, hereditary sensory, type ie | Enrichment | DNMT1 | 2.61 |
| 53 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 2.61 |
| 54 | Hyper ige syndrome | Enrichment | STAT3 | 2.61 |
| 55 | Enchondromatosis | Enrichment | HIF1A | 2.61 |
| 56 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 2.39 |
| 57 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 2.39 |
| 58 | Burkitt lymphoma | Enrichment | MYC | 2.35 |
| 59 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.35 |
| 60 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.35 |
| 61 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.35 |
| 62 | Megalencephaly-polydactyly syndrome | Enrichment | MYCN | 2.35 |
| 63 | Familial retinoblastoma | Enrichment | MYCN | 2.35 |
| 64 | Rhabdomyosarcoma | Enrichment | ALK | 2.33 |
| 65 | Rubinstein-taybi syndrome 1 | Enrichment | EP300 | 2.31 |
| 66 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | EP300 | 2.31 |
| 67 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 2.25 |
| 68 | Hereditary sensory and autonomic neuropathy type 1 | Enrichment | DNMT1 | 2.25 |
| 69 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 2.19 |
| 70 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | JAK3 | 2.18 |
| 71 | Retinoblastoma | Enrichment | MYCN | 2.18 |
| 72 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.18 |
| 73 | Neutrophilic dermatosis, acute febrile | Enrichment | PTPN6 | 2.18 |
| 74 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.18 |
| 75 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 2.18 |
| 76 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.18 |
| 77 | Keratoacanthoma | Enrichment | PIK3CA | 2.18 |
| 78 | Charge syndrome | Enrichment | EP300 | 2.14 |
| 79 | Omenn syndrome | Enrichment | IL2RG | 2.09 |
| 80 | Differentiated thyroid carcinoma | Enrichment | ALK | 2.07 |
| 81 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 2.05 |
| 82 | Cerebrovascular disease | Enrichment | PIK3CA | 2.05 |
| 83 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.05 |
| 84 | Adenosine deaminase deficiency | Enrichment | JAK3 | 2.05 |
| 85 | Combined immunodeficiency | Enrichment | IL2RG | 2.05 |
| 86 | Combined t cell and b cell immunodeficiency | Enrichment | IL2RG | 2.05 |
| 87 | Combined t and b cell immunodeficiency | Enrichment | IL2RG | 2.05 |
| 88 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.98 |
| 89 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.96 |
| 90 | Feingold syndrome 1 | Enrichment | MYCN | 1.96 |
| 91 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | JAK3 | 1.96 |
| 92 | Hemimegalencephaly | Enrichment | PIK3CA | 1.96 |
| 93 | Pituitary stalk interruption syndrome | Enrichment | DNMT1 | 1.95 |
| 94 | Breast cancer | Enrichment | PIK3CA, SHC1 | 1.93 |
| 95 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.92 |
| 96 | Rare genetic intellectual disability | Enrichment | EP300 | 1.92 |
| 97 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.88 |
| 98 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.88 |
| 99 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.88 |
| 100 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.88 |
| 101 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 1.82 |
| 102 | Nevus, epidermal | Enrichment | PIK3CA | 1.81 |
| 103 | Myelofibrosis | Enrichment | SRC | 1.81 |
| 104 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.81 |
| 105 | Gallbladder cancer | Enrichment | PIK3CA | 1.81 |
| 106 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.81 |
| 107 | Arteriovenous malformation | Enrichment | PIK3CA | 1.70 |
| 108 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.70 |
| 109 | Cowden syndrome | Enrichment | PIK3CA | 1.70 |
| 110 | Ovarian cancer | Enrichment | ALK, PIK3CA | 1.68 |
| 111 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.66 |
| 112 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.66 |
| 113 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.62 |
| 114 | Meningioma | Enrichment | PIK3CA | 1.58 |
| 115 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.58 |
| 116 | Osteoporosis | Enrichment | SRC | 1.52 |
| 117 | Lynch syndrome | Enrichment | PIK3CA | 1.49 |
| 118 | Inherited cancer-predisposing syndrome | Enrichment | ALK | 1.42 |
| 119 | Spastic ataxia | Enrichment | DNMT1 | 1.38 |
| 120 | Endometrial cancer | Enrichment | PIK3CA | 1.34 |
| 121 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.32 |
| 122 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 1.30 |
| 123 | Bladder cancer | Enrichment | PIK3CA | 1.21 |
| 124 | Prostate cancer | Enrichment | PIK3CA | 1.21 |
| 125 | Severe covid-19 | Enrichment | JAK3 | 1.21 |
| 126 | Severe combined immunodeficiency | Enrichment | JAK3 | 1.15 |
| 127 | Type 2 diabetes mellitus | Enrichment | IRS1 | 1.05 |
| 128 | Gastric cancer | Enrichment | PIK3CA | 1.04 |
| 129 | Hereditary breast carcinoma | Enrichment | PIK3CA | 1.03 |
| 130 | Microcephaly | Enrichment | EP300 | 1.02 |
| 131 | Thrombocytopenia | Enrichment | SRC | 1.00 |
| 132 | Hypertelorism | Enrichment | PIK3CA | 0.96 |
| 133 | Myeloma, multiple | Enrichment | PIK3R2 | 0.93 |