| 1 | Hemimegalencephaly | Enrichment | MTOR, PIK3CA, PTEN, RHEB | 9.81 |
| 2 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA, RB1CC1 | 9.39 |
| 3 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 9.04 |
| 4 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 8.08 |
| 5 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.32 |
| 6 | Focal cortical dysplasia, type ii | Enrichment | MTOR, RHEB, TSC2 | 7.32 |
| 7 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, RHEB, TSC2 | 7.32 |
| 8 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PIK3CA, PTEN, RB1CC1 | 7.27 |
| 9 | Ovarian cancer | Enrichment | AKT1, CDKN1B, KRAS, PIK3CA, PTEN, TSC2 | 6.94 |
| 10 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS, PTEN | 6.38 |
| 11 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS, PTEN | 6.38 |
| 12 | Bladder cancer | Enrichment | HRAS, KRAS, PIK3CA, PTEN | 6.24 |
| 13 | Breast cancer | Enrichment | AKT1, KRAS, PIK3CA, PTEN, RB1CC1 | 6.09 |
| 14 | Cowden syndrome | Enrichment | AKT1, PIK3CA, PTEN | 6.00 |
| 15 | Meningioma | Enrichment | AKT1, PIK3CA, PTEN | 5.59 |
| 16 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS | 5.27 |
| 17 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.27 |
| 18 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.79 |
| 19 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.79 |
| 20 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS | 4.69 |
| 21 | Rasopathy | Enrichment | HRAS, KRAS, NRAS | 4.52 |
| 22 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 4.49 |
| 23 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.49 |
| 24 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 4.38 |
| 25 | Colorectal cancer | Enrichment | AKT1, NRAS, PIK3CA, PIK3R1 | 4.31 |
| 26 | Cowden syndrome 1 | Enrichment | PIK3CA, PTEN | 4.09 |
| 27 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 4.09 |
| 28 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 3.95 |
| 29 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.95 |
| 30 | Noonan syndrome 3 | Enrichment | HRAS, KRAS | 3.95 |
| 31 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 3.95 |
| 32 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.95 |
| 33 | Gastric cancer | Enrichment | KRAS, PIK3CA, PTEN | 3.86 |
| 34 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 3.82 |
| 35 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 3.72 |
| 36 | Adult hepatocellular carcinoma | Enrichment | PIK3CA, TSC2 | 3.72 |
| 37 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 3.62 |
| 38 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 3.46 |
| 39 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 3.46 |
| 40 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 3.26 |
| 41 | Rhabdomyosarcoma | Enrichment | HRAS, PTEN | 3.20 |
| 42 | Diffuse large b-cell lymphoma | Enrichment | FOXO1, PTEN | 3.05 |
| 43 | Endometrial cancer | Enrichment | PIK3CA, PTEN | 2.96 |
| 44 | Prostate cancer | Enrichment | PIK3CA, PTEN | 2.68 |
| 45 | Macrodactyly | Enrichment | PIK3CA | 2.63 |
| 46 | Proteus syndrome | Enrichment | AKT1 | 2.63 |
| 47 | Oculoectodermal syndrome | Enrichment | KRAS | 2.63 |
| 48 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.63 |
| 49 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.63 |
| 50 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.63 |
| 51 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.63 |
| 52 | Noonan syndrome 6 | Enrichment | NRAS | 2.63 |
| 53 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.63 |
| 54 | Short syndrome | Enrichment | PIK3R1 | 2.63 |
| 55 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.63 |
| 56 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.63 |
| 57 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.63 |
| 58 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.63 |
| 59 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.63 |
| 60 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.63 |
| 61 | Cowden syndrome 6 | Enrichment | AKT1 | 2.63 |
| 62 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.63 |
| 63 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.63 |
| 64 | Glioma susceptibility 2 | Enrichment | PTEN | 2.63 |
| 65 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.63 |
| 66 | Hypospadias | Enrichment | PIK3CA | 2.63 |
| 67 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.63 |
| 68 | Rare venous malformation | Enrichment | PIK3CA | 2.63 |
| 69 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.63 |
| 70 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.63 |
| 71 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.63 |
| 72 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.63 |
| 73 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.63 |
| 74 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.63 |
| 75 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.63 |
| 76 | Silver-russell syndrome due to maternal uniparental disomy of chromosome 7 | Enrichment | GRB10 | 2.63 |
| 77 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.63 |
| 78 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.63 |
| 79 | Macrodactyly of toe | Enrichment | PIK3CA | 2.63 |
| 80 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.63 |
| 81 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.62 |
| 82 | Lung cancer | Enrichment | KRAS, PIK3CA | 2.59 |
| 83 | Inherited cancer-predisposing syndrome | Enrichment | CDKN1B, PTEN, TSC2 | 2.44 |
| 84 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 2.40 |
| 85 | Costello syndrome | Enrichment | HRAS | 2.33 |
| 86 | Lymphangioleiomyomatosis | Enrichment | TSC2 | 2.33 |
| 87 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.33 |
| 88 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.33 |
| 89 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.33 |
| 90 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.33 |
| 91 | Cebalid syndrome | Enrichment | MTOR | 2.33 |
| 92 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.33 |
| 93 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.33 |
| 94 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.33 |
| 95 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.33 |
| 96 | Wooly hair nevus | Enrichment | HRAS | 2.33 |
| 97 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.15 |
| 98 | Tuberous sclerosis 1 | Enrichment | TSC2 | 2.15 |
| 99 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 2.15 |
| 100 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.15 |
| 101 | Tuberous sclerosis 2 | Enrichment | TSC2 | 2.15 |
| 102 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.15 |
| 103 | Hamartoma | Enrichment | TSC2 | 2.15 |
| 104 | Xanthinuria, type ii | Enrichment | TSC2 | 2.15 |
| 105 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.15 |
| 106 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 2.15 |
| 107 | Spermatocytoma | Enrichment | HRAS | 2.15 |
| 108 | Keratoacanthoma | Enrichment | PIK3CA | 2.15 |
| 109 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, PTEN | 2.13 |
| 110 | Myeloma, multiple | Enrichment | KRAS, PIK3R2 | 2.12 |
| 111 | Primary ovarian insufficiency | Enrichment | NOS3, RICTOR | 2.07 |
| 112 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.03 |
| 113 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.03 |
| 114 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 2.03 |
| 115 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.03 |
| 116 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.03 |
| 117 | Tuberous sclerosis | Enrichment | TSC2 | 2.03 |
| 118 | Cerebrovascular disease | Enrichment | PIK3CA | 2.03 |
| 119 | Pilocytic astrocytoma | Enrichment | KRAS | 2.03 |
| 120 | Epidermolytic nevus | Enrichment | HRAS | 2.03 |
| 121 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.03 |
| 122 | Primary hyperparathyroidism | Enrichment | CDKN1B | 2.03 |
| 123 | Glioma | Enrichment | PTEN | 2.03 |
| 124 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.93 |
| 125 | Alzheimer disease 2 | Enrichment | NOS3 | 1.93 |
| 126 | Rhabdomyosarcoma 2 | Enrichment | FOXO1 | 1.93 |
| 127 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.93 |
| 128 | Pre-eclampsia | Enrichment | NOS3 | 1.93 |
| 129 | Hemangioma | Enrichment | PTEN | 1.93 |
| 130 | Acute megakaryocytic leukemia | Enrichment | PTEN | 1.93 |
| 131 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.85 |
| 132 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.85 |
| 133 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.79 |
| 134 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.79 |
| 135 | Squamous cell carcinoma, head and neck | Enrichment | PTEN | 1.79 |
| 136 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.79 |
| 137 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.79 |
| 138 | Renal cell carcinoma with mit translocations | Enrichment | TFEB | 1.79 |
| 139 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.79 |
| 140 | Stroke, ischemic | Enrichment | NOS3 | 1.63 |
| 141 | Melanoma | Enrichment | PTEN | 1.63 |
| 142 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.63 |
| 143 | Meningioma, familial | Enrichment | PTEN | 1.59 |
| 144 | Uterine corpus cancer | Enrichment | PTEN | 1.59 |
| 145 | Congenital nervous system abnormality | Enrichment | PTEN, TSC2 | 1.59 |
| 146 | Nervous system disease | Enrichment | PTEN, TSC2 | 1.59 |
| 147 | Autism spectrum disorder | Enrichment | PTEN, TSC2 | 1.57 |
| 148 | Protein-deficiency anemia | Enrichment | NRAS | 1.52 |
| 149 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.52 |
| 150 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.49 |
| 151 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.46 |
| 152 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 1.46 |
| 153 | Rare genetic intellectual disability | Enrichment | MTOR | 1.46 |
| 154 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 1.40 |
| 155 | Hypertension, essential | Enrichment | NOS3 | 1.40 |
| 156 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.36 |
| 157 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.30 |
| 158 | Pancreatic cancer | Enrichment | KRAS | 1.24 |
| 159 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.22 |
| 160 | West syndrome | Enrichment | TSC2 | 1.01 |
| 161 | Hypertelorism | Enrichment | PIK3CA | 0.94 |