| 1 | Childhood absence epilepsy | Enrichment | GABRA1, GABRB3, GABRG2 | 6.39 |
| 2 | Undetermined early-onset epileptic encephalopathy | Enrichment | GABRA2, GABRA5, GABRB2, GABRG2, NTRK2 | 6.34 |
| 3 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.64 |
| 4 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2, STAT3 | 4.64 |
| 5 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 4.34 |
| 6 | Hemimegalencephaly | Enrichment | PIK3CA, PTEN | 4.12 |
| 7 | Cowden syndrome 1 | Enrichment | PIK3CA, PTEN | 3.94 |
| 8 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.94 |
| 9 | Lennox-gastaut syndrome | Enrichment | GABRB3, GABRG2 | 3.67 |
| 10 | Cowden syndrome | Enrichment | PIK3CA, PTEN | 3.57 |
| 11 | Dravet syndrome | Enrichment | GABRA1, GABRG2 | 3.47 |
| 12 | Epilepsy, myoclonic juvenile | Enrichment | GABRA1, GABRD | 3.38 |
| 13 | Epilepsy, idiopathic generalized | Enrichment | GABRA1, GABRD | 3.38 |
| 14 | Meningioma | Enrichment | PIK3CA, PTEN | 3.30 |
| 15 | Generalized epilepsy with febrile seizures plus | Enrichment | GABRD, GABRG2 | 3.17 |
| 16 | Breast cancer | Enrichment | PIK3CA, PTEN, SHC1 | 2.92 |
| 17 | Diffuse large b-cell lymphoma | Enrichment | PTEN, STAT3 | 2.90 |
| 18 | Endometrial cancer | Enrichment | PIK3CA, PTEN | 2.81 |
| 19 | Macrodactyly | Enrichment | PIK3CA | 2.55 |
| 20 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.55 |
| 21 | Febrile seizures, familial, 8 | Enrichment | GABRG2 | 2.55 |
| 22 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.55 |
| 23 | Epilepsy, idiopathic generalized 13 | Enrichment | GABRA1 | 2.55 |
| 24 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.55 |
| 25 | Epilepsy, idiopathic generalized 14 | Enrichment | SLC12A5 | 2.55 |
| 26 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.55 |
| 27 | Developmental and epileptic encephalopathy 58 | Enrichment | NTRK2 | 2.55 |
| 28 | Developmental and epileptic encephalopathy 74 | Enrichment | GABRG2 | 2.55 |
| 29 | Developmental and epileptic encephalopathy 79 | Enrichment | GABRA5 | 2.55 |
| 30 | Short syndrome | Enrichment | PIK3R1 | 2.55 |
| 31 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.55 |
| 32 | Epilepsy, x-linked 2, with or without impaired intellectual development and dysmorphic features | Enrichment | GABRA3 | 2.55 |
| 33 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.55 |
| 34 | Epilepsy, idiopathic generalized 10 | Enrichment | GABRD | 2.55 |
| 35 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.55 |
| 36 | Developmental and epileptic encephalopathy 19 | Enrichment | GABRA1 | 2.55 |
| 37 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.55 |
| 38 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.55 |
| 39 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.55 |
| 40 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.55 |
| 41 | Epilepsy, childhood absence 5 | Enrichment | GABRB3 | 2.55 |
| 42 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.55 |
| 43 | Obesity, hyperphagia, and developmental delay | Enrichment | NTRK2 | 2.55 |
| 44 | Glioma susceptibility 2 | Enrichment | PTEN | 2.55 |
| 45 | Developmental and epileptic encephalopathy 92 | Enrichment | GABRB2 | 2.55 |
| 46 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.55 |
| 47 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.55 |
| 48 | Developmental and epileptic encephalopathy 43 | Enrichment | GABRB3 | 2.55 |
| 49 | Developmental and epileptic encephalopathy 45 | Enrichment | GABRB1 | 2.55 |
| 50 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.55 |
| 51 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.55 |
| 52 | Hypospadias | Enrichment | PIK3CA | 2.55 |
| 53 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.55 |
| 54 | Rare venous malformation | Enrichment | PIK3CA | 2.55 |
| 55 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.55 |
| 56 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.55 |
| 57 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.55 |
| 58 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.55 |
| 59 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.55 |
| 60 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.55 |
| 61 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.55 |
| 62 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.55 |
| 63 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.55 |
| 64 | Macrodactyly of toe | Enrichment | PIK3CA | 2.55 |
| 65 | Bladder cancer | Enrichment | PIK3CA, PTEN | 2.53 |
| 66 | Prostate cancer | Enrichment | PIK3CA, PTEN | 2.53 |
| 67 | Epilepsy | Enrichment | GABRA1, GABRB3 | 2.25 |
| 68 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.25 |
| 69 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.25 |
| 70 | Developmental and epileptic encephalopathy 34 | Enrichment | SLC12A5 | 2.25 |
| 71 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.25 |
| 72 | Thrombocythemia 3 | Enrichment | JAK2 | 2.25 |
| 73 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.25 |
| 74 | Developmental and epileptic encephalopathy 78 | Enrichment | GABRA2 | 2.25 |
| 75 | Polycythemia | Enrichment | JAK2 | 2.25 |
| 76 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.25 |
| 77 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.25 |
| 78 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.25 |
| 79 | Gastric cancer | Enrichment | PIK3CA, PTEN | 2.19 |
| 80 | Hereditary breast carcinoma | Enrichment | PIK3CA, PTEN | 2.17 |
| 81 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.08 |
| 82 | Polycythemia vera | Enrichment | JAK2 | 2.08 |
| 83 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.08 |
| 84 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.08 |
| 85 | Hyper ige syndrome | Enrichment | STAT3 | 2.08 |
| 86 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.08 |
| 87 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 2.08 |
| 88 | Melanoma of soft tissue | Enrichment | CREB1 | 2.08 |
| 89 | Thyrotoxic periodic paralysis | Enrichment | GABRA3 | 2.08 |
| 90 | Keratoacanthoma | Enrichment | PIK3CA | 2.08 |
| 91 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.95 |
| 92 | Budd-chiari syndrome | Enrichment | JAK2 | 1.95 |
| 93 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.95 |
| 94 | Autosomal dominant nocturnal frontal lobe epilepsy | Enrichment | GABRG2 | 1.95 |
| 95 | Cerebrovascular disease | Enrichment | PIK3CA | 1.95 |
| 96 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.95 |
| 97 | Glioma | Enrichment | PTEN | 1.95 |
| 98 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.86 |
| 99 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.86 |
| 100 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.86 |
| 101 | Hemangioma | Enrichment | PTEN | 1.86 |
| 102 | Acute megakaryocytic leukemia | Enrichment | PTEN | 1.86 |
| 103 | Angelman syndrome | Enrichment | GABRG3 | 1.78 |
| 104 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.78 |
| 105 | Alcohol dependence | Enrichment | GABRA2 | 1.78 |
| 106 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF | 1.78 |
| 107 | Epilepsy, childhood absence 1 | Enrichment | GABRB3 | 1.78 |
| 108 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.78 |
| 109 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.78 |
| 110 | Nevus, epidermal | Enrichment | PIK3CA | 1.71 |
| 111 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.71 |
| 112 | Myelofibrosis | Enrichment | JAK2 | 1.71 |
| 113 | Squamous cell carcinoma, head and neck | Enrichment | PTEN | 1.71 |
| 114 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.71 |
| 115 | Essential thrombocythemia | Enrichment | JAK2 | 1.71 |
| 116 | Gallbladder cancer | Enrichment | PIK3CA | 1.71 |
| 117 | Pilomyxoid astrocytoma | Enrichment | NTRK2 | 1.71 |
| 118 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.71 |
| 119 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.71 |
| 120 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.65 |
| 121 | Colorectal cancer | Enrichment | PIK3CA, PIK3R1 | 1.61 |
| 122 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.60 |
| 123 | Developmental and epileptic encephalopathy 14 | Enrichment | SLC12A5 | 1.60 |
| 124 | Arteriovenous malformation | Enrichment | PIK3CA | 1.60 |
| 125 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.60 |
| 126 | Congenital central hypoventilation syndrome | Enrichment | BDNF | 1.60 |
| 127 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.56 |
| 128 | Melanoma | Enrichment | PTEN | 1.56 |
| 129 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.56 |
| 130 | Meningioma, familial | Enrichment | PTEN | 1.52 |
| 131 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.52 |
| 132 | Uterine corpus cancer | Enrichment | PTEN | 1.52 |
| 133 | Ovarian cancer | Enrichment | PIK3CA, PTEN | 1.49 |
| 134 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.48 |
| 135 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.45 |
| 136 | Chromosome 1p36 deletion syndrome | Enrichment | GABRD | 1.45 |
| 137 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.45 |
| 138 | Lynch syndrome | Enrichment | PIK3CA | 1.38 |
| 139 | Rhabdomyosarcoma | Enrichment | PTEN | 1.36 |
| 140 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.22 |
| 141 | Lung cancer | Enrichment | PIK3CA | 1.07 |
| 142 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.97 |
| 143 | Benign epilepsy with centrotemporal spikes | Enrichment | GABRG2 | 0.96 |
| 144 | Centralopathic epilepsy | Enrichment | GABRG2 | 0.94 |
| 145 | West syndrome | Enrichment | NTRK2 | 0.93 |
| 146 | Body mass index quantitative trait locus 11 | Enrichment | BDNF | 0.88 |
| 147 | Hypertelorism | Enrichment | PIK3CA | 0.87 |
| 148 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN | 0.84 |
| 149 | Myeloma, multiple | Enrichment | PIK3R2 | 0.84 |
| 150 | Schizophrenia | Enrichment | GABRB2 | 0.82 |
| 151 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.82 |
| 152 | Congenital nervous system abnormality | Enrichment | PTEN | 0.59 |
| 153 | Nervous system disease | Enrichment | PTEN | 0.59 |
| 154 | Autism spectrum disorder | Enrichment | PTEN | 0.58 |
| 155 | Inherited cancer-predisposing syndrome | Enrichment | PTEN | 0.51 |