| 1 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.91 |
| 2 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 4.21 |
| 3 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.83 |
| 4 | Meningioma | Enrichment | AKT1, PIK3CA | 3.57 |
| 5 | Colorectal cancer | Enrichment | AKT1, PIK3CA, PIK3R1 | 3.13 |
| 6 | Lissencephaly | Enrichment | PAFAH1B1, RELN | 3.07 |
| 7 | Scoliosis | Enrichment | GRIN2B, RELN | 2.96 |
| 8 | Arthritis, sacroiliac | Enrichment | RELN | 2.69 |
| 9 | Macrodactyly | Enrichment | PIK3CA | 2.69 |
| 10 | Proteus syndrome | Enrichment | AKT1 | 2.69 |
| 11 | Epilepsy, focal, with speech disorder and with or without impaired intellectual development | Enrichment | GRIN2A | 2.69 |
| 12 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.69 |
| 13 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.69 |
| 14 | Developmental and epileptic encephalopathy 27 | Enrichment | GRIN2B | 2.69 |
| 15 | Lissencephaly 7 with cerebellar hypoplasia | Enrichment | CDK5 | 2.69 |
| 16 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.69 |
| 17 | Neurodevelopmental disorder with midbrain and hindbrain malformations | Enrichment | ARHGEF2 | 2.69 |
| 18 | Short syndrome | Enrichment | PIK3R1 | 2.69 |
| 19 | Parkinson-dementia syndrome | Enrichment | MAPT | 2.69 |
| 20 | Supranuclear palsy, progressive, 1 | Enrichment | MAPT | 2.69 |
| 21 | Deafness, autosomal dominant 83 | Enrichment | MAP1B | 2.69 |
| 22 | Progressive supranuclear palsy | Enrichment | MAPT | 2.69 |
| 23 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.69 |
| 24 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.69 |
| 25 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | Enrichment | GRIN2B | 2.69 |
| 26 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.69 |
| 27 | Cowden syndrome 6 | Enrichment | AKT1 | 2.69 |
| 28 | Spinocerebellar ataxia 37 | Enrichment | DAB1 | 2.69 |
| 29 | Synovitis | Enrichment | RELN | 2.69 |
| 30 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.69 |
| 31 | Classic progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.69 |
| 32 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.69 |
| 33 | Cerebellar hypoplasia | Enrichment | VLDLR | 2.69 |
| 34 | Atypical progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.69 |
| 35 | Hypospadias | Enrichment | PIK3CA | 2.69 |
| 36 | Grin2b-related neurodevelopmental disorder | Enrichment | GRIN2B | 2.69 |
| 37 | Landau-kleffner syndrome | Enrichment | GRIN2A | 2.69 |
| 38 | Rare venous malformation | Enrichment | PIK3CA | 2.69 |
| 39 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.69 |
| 40 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.69 |
| 41 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.69 |
| 42 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.69 |
| 43 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.69 |
| 44 | Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation | Enrichment | GRIN2A | 2.69 |
| 45 | Grin2a-related disorders | Enrichment | GRIN2A | 2.69 |
| 46 | Lissencephaly due to lis1 mutation | Enrichment | PAFAH1B1 | 2.69 |
| 47 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.69 |
| 48 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.69 |
| 49 | Macrodactyly of toe | Enrichment | PIK3CA | 2.69 |
| 50 | Epilepsy | Enrichment | GRIN2A, GRIN2B | 2.52 |
| 51 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN2A, RELN | 2.49 |
| 52 | Centralopathic epilepsy | Enrichment | GRIN2A, RELN | 2.45 |
| 53 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 2.43 |
| 54 | Ovarian germ cell cancer | Enrichment | CBL | 2.38 |
| 55 | Pick disease of brain | Enrichment | MAPT | 2.38 |
| 56 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.38 |
| 57 | Lissencephaly 1 | Enrichment | PAFAH1B1 | 2.38 |
| 58 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.38 |
| 59 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome | Enrichment | VLDLR | 2.38 |
| 60 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 2.38 |
| 61 | Periventricular nodular heterotopia 9 | Enrichment | MAP1B | 2.38 |
| 62 | Intellectual developmental disorder, autosomal dominant 21 | Enrichment | GRIN2A | 2.38 |
| 63 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.38 |
| 64 | Rolandic epilepsy-speech dyspraxia syndrome | Enrichment | GRIN2A | 2.38 |
| 65 | Arthritis | Enrichment | RELN | 2.38 |
| 66 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.38 |
| 67 | Epilepsy-aphasia spectrum | Enrichment | GRIN2A | 2.38 |
| 68 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.21 |
| 69 | Band heterotopia | Enrichment | PAFAH1B1 | 2.21 |
| 70 | Chromosome 5q14.3 deletion syndrome, distal | Enrichment | MAP1B | 2.21 |
| 71 | Epilepsy, familial temporal lobe, 7 | Enrichment | RELN | 2.21 |
| 72 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.21 |
| 73 | Miller-dieker lissencephaly syndrome | Enrichment | PAFAH1B1 | 2.21 |
| 74 | Chromosome 17p13.3, centromeric, duplication syndrome | Enrichment | PAFAH1B1 | 2.21 |
| 75 | Myopia 23, autosomal recessive | Enrichment | LRPAP1 | 2.21 |
| 76 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.21 |
| 77 | Pyloric stenosis | Enrichment | MAP1B | 2.21 |
| 78 | Kyphosis | Enrichment | RELN | 2.21 |
| 79 | Keratoacanthoma | Enrichment | PIK3CA | 2.21 |
| 80 | Epilepsy with auditory features | Enrichment | RELN | 2.21 |
| 81 | Astigmatism | Enrichment | GRIN2B | 2.08 |
| 82 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.08 |
| 83 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | CRKL | 2.08 |
| 84 | Cerebrovascular disease | Enrichment | PIK3CA | 2.08 |
| 85 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL | 2.08 |
| 86 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.08 |
| 87 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.99 |
| 88 | Chromosome 15q11.2 deletion syndrome | Enrichment | PAFAH1B1 | 1.99 |
| 89 | Lissencephaly 2 | Enrichment | RELN | 1.99 |
| 90 | Myeloproliferative neoplasm | Enrichment | CBL | 1.99 |
| 91 | Hemimegalencephaly | Enrichment | PIK3CA | 1.99 |
| 92 | Dementia | Enrichment | MAPT | 1.99 |
| 93 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.99 |
| 94 | Rare isolated myopia | Enrichment | LRPAP1 | 1.99 |
| 95 | Sleep disorder | Enrichment | GRIN2B | 1.99 |
| 96 | Breast cancer | Enrichment | AKT1, PIK3CA | 1.98 |
| 97 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.91 |
| 98 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.91 |
| 99 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | Enrichment | VLDLR | 1.91 |
| 100 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.91 |
| 101 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.91 |
| 102 | Nevus, epidermal | Enrichment | PIK3CA | 1.84 |
| 103 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.84 |
| 104 | Semantic dementia | Enrichment | MAPT | 1.84 |
| 105 | Gallbladder cancer | Enrichment | PIK3CA | 1.84 |
| 106 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.84 |
| 107 | Ovarian cancer | Enrichment | AKT1, PIK3CA | 1.74 |
| 108 | Arteriovenous malformation | Enrichment | PIK3CA | 1.73 |
| 109 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.73 |
| 110 | Progressive non-fluent aphasia | Enrichment | MAPT | 1.73 |
| 111 | Behavioral variant of frontotemporal dementia | Enrichment | MAPT | 1.73 |
| 112 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.69 |
| 113 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.69 |
| 114 | Autism spectrum disorder | Enrichment | GRIN2B, MAP1B | 1.68 |
| 115 | Frontotemporal dementia 1 | Enrichment | MAPT | 1.65 |
| 116 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.65 |
| 117 | Juvenile myelomonocytic leukemia | Enrichment | CBL | 1.61 |
| 118 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.61 |
| 119 | Neural tube defects | Enrichment | ITGB1 | 1.58 |
| 120 | Alzheimer's disease | Enrichment | MAPT | 1.58 |
| 121 | Periventricular nodular heterotopia | Enrichment | MAP1B | 1.54 |
| 122 | Lynch syndrome | Enrichment | PIK3CA | 1.52 |
| 123 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL | 1.52 |
| 124 | Rhabdomyosarcoma | Enrichment | CBL | 1.49 |
| 125 | Alzheimer disease, familial, 1 | Enrichment | MAPT | 1.46 |
| 126 | Craniosynostosis | Enrichment | GRIN2B | 1.39 |
| 127 | Endometrial cancer | Enrichment | PIK3CA | 1.37 |
| 128 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.35 |
| 129 | Attention deficit-hyperactivity disorder | Enrichment | MAP1B | 1.35 |
| 130 | Myocardial infarction | Enrichment | LRP8 | 1.35 |
| 131 | Noonan syndrome 1 | Enrichment | CBL | 1.33 |
| 132 | Parkinson disease, late-onset | Enrichment | MAPT | 1.31 |
| 133 | Rasopathy | Enrichment | CBL | 1.28 |
| 134 | Bladder cancer | Enrichment | PIK3CA | 1.23 |
| 135 | Prostate cancer | Enrichment | PIK3CA | 1.23 |
| 136 | Lung cancer | Enrichment | PIK3CA | 1.19 |
| 137 | Cerebral palsy | Enrichment | GRIN2B | 1.11 |
| 138 | Gastric cancer | Enrichment | PIK3CA | 1.07 |
| 139 | Nephrotic syndrome | Enrichment | ITGA3 | 1.07 |
| 140 | West syndrome | Enrichment | GRIN2B | 1.06 |
| 141 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GRIN2B | 1.01 |
| 142 | Hypertelorism | Enrichment | PIK3CA | 0.99 |
| 143 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MAP1B | 0.99 |
| 144 | Spastic ataxia | Enrichment | DAB1 | 0.98 |
| 145 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MAPT | 0.95 |
| 146 | Schizophrenia | Enrichment | RELN | 0.94 |
| 147 | Congenital nervous system abnormality | Enrichment | VLDLR | 0.70 |
| 148 | Nervous system disease | Enrichment | VLDLR | 0.70 |
| 149 | Microcephaly | Enrichment | GRIN2B | 0.65 |
| 150 | Complex neurodevelopmental disorder | Enrichment | GRIN2B | 0.64 |