| 1 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.82 |
| 2 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 4.12 |
| 3 | Macrodactyly | Enrichment | PIK3CA | 2.64 |
| 4 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.64 |
| 5 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.64 |
| 6 | Amyloidosis, finnish type | Enrichment | GSN | 2.64 |
| 7 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.64 |
| 8 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.64 |
| 9 | Fetal encasement syndrome | Enrichment | CHUK | 2.64 |
| 10 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.64 |
| 11 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.64 |
| 12 | Immunodeficiency 82 with systemic inflammation | Enrichment | SYK | 2.64 |
| 13 | Short syndrome | Enrichment | PIK3R1 | 2.64 |
| 14 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.64 |
| 15 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.64 |
| 16 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.64 |
| 17 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.64 |
| 18 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.64 |
| 19 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.64 |
| 20 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.64 |
| 21 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.64 |
| 22 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.64 |
| 23 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.64 |
| 24 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.64 |
| 25 | Hypospadias | Enrichment | PIK3CA | 2.64 |
| 26 | Colitis | Enrichment | SYK | 2.64 |
| 27 | Immunodeficiency 112 | Enrichment | MAP3K14 | 2.64 |
| 28 | Rare venous malformation | Enrichment | PIK3CA | 2.64 |
| 29 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.64 |
| 30 | Zebra body myopathy | Enrichment | ACTA1 | 2.64 |
| 31 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.64 |
| 32 | Nocarh syndrome | Enrichment | CDC42 | 2.64 |
| 33 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.64 |
| 34 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.64 |
| 35 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.64 |
| 36 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.64 |
| 37 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.64 |
| 38 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.64 |
| 39 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.64 |
| 40 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.64 |
| 41 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.64 |
| 42 | Macrodactyly of toe | Enrichment | PIK3CA | 2.64 |
| 43 | Nik deficiency | Enrichment | MAP3K14 | 2.64 |
| 44 | Quebec platelet disorder | Enrichment | PLAU | 2.34 |
| 45 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.34 |
| 46 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.34 |
| 47 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.34 |
| 48 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.34 |
| 49 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.34 |
| 50 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.34 |
| 51 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.34 |
| 52 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.34 |
| 53 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 2.34 |
| 54 | Ectodermal dysplasia and immune deficiency | Enrichment | NFKBIA | 2.34 |
| 55 | Intellectual developmental disorder, autosomal dominant 60, with seizures | Enrichment | PIP5K1A | 2.34 |
| 56 | Immune system disease | Enrichment | CDC42 | 2.34 |
| 57 | Metaphyseal anadysplasia | Enrichment | MMP9 | 2.34 |
| 58 | Arthritis | Enrichment | SYK | 2.34 |
| 59 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.34 |
| 60 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 2.16 |
| 61 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 2.16 |
| 62 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.16 |
| 63 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 2.16 |
| 64 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 2.16 |
| 65 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.16 |
| 66 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.16 |
| 67 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 2.16 |
| 68 | Keratoacanthoma | Enrichment | PIK3CA | 2.16 |
| 69 | Nemaline myopathy 2 | Enrichment | ACTA1 | 2.04 |
| 70 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.04 |
| 71 | Congenital generalized lipodystrophy | Enrichment | FOS | 2.04 |
| 72 | Cerebrovascular disease | Enrichment | PIK3CA | 2.04 |
| 73 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 2.04 |
| 74 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.04 |
| 75 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 2.04 |
| 76 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 2.04 |
| 77 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.94 |
| 78 | Alzheimer disease 2 | Enrichment | PLAU | 1.94 |
| 79 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.94 |
| 80 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.94 |
| 81 | Histiocytoid hemangioma | Enrichment | FOS | 1.94 |
| 82 | Hemimegalencephaly | Enrichment | PIK3CA | 1.94 |
| 83 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.94 |
| 84 | Breast cancer | Enrichment | JUN, PIK3CA | 1.90 |
| 85 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.87 |
| 86 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.87 |
| 87 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.87 |
| 88 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.87 |
| 89 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.87 |
| 90 | Typical nemaline myopathy | Enrichment | ACTA1 | 1.87 |
| 91 | Nevus, epidermal | Enrichment | PIK3CA | 1.80 |
| 92 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.80 |
| 93 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.80 |
| 94 | Gallbladder cancer | Enrichment | PIK3CA | 1.80 |
| 95 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.80 |
| 96 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.80 |
| 97 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.80 |
| 98 | Colorectal cancer | Enrichment | PIK3CA, PIK3R1 | 1.78 |
| 99 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.69 |
| 100 | Arteriovenous malformation | Enrichment | PIK3CA | 1.69 |
| 101 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.69 |
| 102 | Cowden syndrome | Enrichment | PIK3CA | 1.69 |
| 103 | Ovarian cancer | Enrichment | MAP3K1, PIK3CA | 1.65 |
| 104 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.65 |
| 105 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.65 |
| 106 | Nemaline myopathy | Enrichment | ACTA1 | 1.65 |
| 107 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.65 |
| 108 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.65 |
| 109 | Immune deficiency disease | Enrichment | SYK | 1.60 |
| 110 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.60 |
| 111 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.60 |
| 112 | Meningioma | Enrichment | PIK3CA | 1.57 |
| 113 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.57 |
| 114 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1 | 1.50 |
| 115 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.47 |
| 116 | Lynch syndrome | Enrichment | PIK3CA | 1.47 |
| 117 | Gliosarcoma | Enrichment | NFKBIA | 1.44 |
| 118 | Alzheimer disease, familial, 1 | Enrichment | PLAU | 1.42 |
| 119 | Giant cell glioblastoma | Enrichment | NFKBIA | 1.42 |
| 120 | Neuromuscular disease | Enrichment | ACTA1 | 1.39 |
| 121 | Congenital myopathy | Enrichment | ACTA1 | 1.37 |
| 122 | Endometrial cancer | Enrichment | PIK3CA | 1.33 |
| 123 | Centronuclear myopathy | Enrichment | ACTA1 | 1.33 |
| 124 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.31 |
| 125 | Myocardial infarction | Enrichment | ITGB3 | 1.31 |
| 126 | Hydrops fetalis, nonimmune | Enrichment | ACTA1 | 1.24 |
| 127 | Bladder cancer | Enrichment | PIK3CA | 1.19 |
| 128 | Prostate cancer | Enrichment | PIK3CA | 1.19 |
| 129 | Severe covid-19 | Enrichment | ITGAV | 1.19 |
| 130 | Non-immune hydrops fetalis | Enrichment | ACTA1 | 1.16 |
| 131 | Lung cancer | Enrichment | PIK3CA | 1.15 |
| 132 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1 | 1.09 |
| 133 | Systemic lupus erythematosus | Enrichment | SPP1 | 1.07 |
| 134 | Myopathy | Enrichment | ACTA1 | 1.06 |
| 135 | Distal arthrogryposis | Enrichment | ACTA1 | 1.04 |
| 136 | Gastric cancer | Enrichment | PIK3CA | 1.03 |
| 137 | Hereditary breast carcinoma | Enrichment | PIK3CA | 1.02 |
| 138 | Thrombocytopenia | Enrichment | ITGB3 | 0.98 |
| 139 | Hypertelorism | Enrichment | PIK3CA | 0.95 |
| 140 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1 | 0.93 |
| 141 | Dilated cardiomyopathy | Enrichment | ACTA1 | 0.78 |