| 1 | Colorectal cancer | Enrichment | AKT1, CCND1, CDH1, CTNNA1, CTNNB1, PIK3CA, PIK3R1, SRC | 10.27 |
| 2 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1, CTNND1 | 5.19 |
| 3 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.71 |
| 4 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, CTNNA1 | 4.41 |
| 5 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 4.02 |
| 6 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 4.02 |
| 7 | Cleft lip with or without cleft palate | Enrichment | CDH1, CTNND1 | 4.02 |
| 8 | Ovarian cancer | Enrichment | AKT1, CDH1, CTNNB1, PIK3CA | 3.90 |
| 9 | Gallbladder cancer | Enrichment | CTNNB1, PIK3CA | 3.87 |
| 10 | Hereditary breast carcinoma | Enrichment | AKT1, CDH1, PIK3CA | 3.71 |
| 11 | Breast lobular carcinoma | Enrichment | CDH1 | 3.66 |
| 12 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 3.64 |
| 13 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.64 |
| 14 | Meningioma | Enrichment | AKT1, PIK3CA | 3.38 |
| 15 | Cleft lip/palate | Enrichment | CDH1, DLG1 | 3.24 |
| 16 | Breast cancer | Enrichment | AKT1, CDH1, PIK3CA | 3.03 |
| 17 | Endometrial cancer | Enrichment | CDH1, PIK3CA | 2.88 |
| 18 | Hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 2.84 |
| 19 | Bladder cancer | Enrichment | CTNNB1, PIK3CA | 2.60 |
| 20 | Prostate cancer | Enrichment | CDH1, PIK3CA | 2.60 |
| 21 | Macrodactyly | Enrichment | PIK3CA | 2.59 |
| 22 | Proteus syndrome | Enrichment | AKT1 | 2.59 |
| 23 | Arrhythmogenic right ventricular dysplasia, familial, 12 | Enrichment | JUP | 2.59 |
| 24 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.59 |
| 25 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.59 |
| 26 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.59 |
| 27 | Naxos disease | Enrichment | JUP | 2.59 |
| 28 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.59 |
| 29 | Short syndrome | Enrichment | PIK3R1 | 2.59 |
| 30 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.59 |
| 31 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.59 |
| 32 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.59 |
| 33 | Cowden syndrome 6 | Enrichment | AKT1 | 2.59 |
| 34 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.59 |
| 35 | Thrombocytopenia 6 | Enrichment | SRC | 2.59 |
| 36 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.59 |
| 37 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.59 |
| 38 | Neurodevelopmental disorder with language delay and seizures | Enrichment | TIAM1 | 2.59 |
| 39 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.59 |
| 40 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.59 |
| 41 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.59 |
| 42 | Hypospadias | Enrichment | PIK3CA | 2.59 |
| 43 | Rare venous malformation | Enrichment | PIK3CA | 2.59 |
| 44 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.59 |
| 45 | Nocarh syndrome | Enrichment | CDC42 | 2.59 |
| 46 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.59 |
| 47 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.59 |
| 48 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.59 |
| 49 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.59 |
| 50 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.59 |
| 51 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.59 |
| 52 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.59 |
| 53 | Macrodactyly of toe | Enrichment | PIK3CA | 2.59 |
| 54 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.59 |
| 55 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.29 |
| 56 | Lethal congenital contracture syndrome 3 | Enrichment | PIP5K1C | 2.29 |
| 57 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.29 |
| 58 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.29 |
| 59 | Immunodeficiency 72 with autoinflammation and lymphoproliferation | Enrichment | NCKAP1 | 2.29 |
| 60 | Blepharocheilodontic syndrome 2 | Enrichment | CTNND1 | 2.29 |
| 61 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.29 |
| 62 | Osteopetrosis, autosomal recessive 3 | Enrichment | CA2 | 2.29 |
| 63 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.29 |
| 64 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.29 |
| 65 | Immune system disease | Enrichment | CDC42 | 2.29 |
| 66 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.29 |
| 67 | Teratoma | Enrichment | CTNNB1 | 2.29 |
| 68 | Immunodeficiency 72 | Enrichment | NCKAP1 | 2.29 |
| 69 | Gastric cancer | Enrichment | CDH1, PIK3CA | 2.26 |
| 70 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.11 |
| 71 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.11 |
| 72 | Epidermolysis bullosa, lethal acantholytic | Enrichment | JUP | 2.11 |
| 73 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.11 |
| 74 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.11 |
| 75 | Anus, imperforate | Enrichment | CTNNB1 | 2.11 |
| 76 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.11 |
| 77 | Developmental and epileptic encephalopathy 65 | Enrichment | CYFIP2 | 2.11 |
| 78 | Desmoid tumor | Enrichment | CTNNB1 | 2.11 |
| 79 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.11 |
| 80 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 2.11 |
| 81 | Keratoacanthoma | Enrichment | PIK3CA | 2.11 |
| 82 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 1.99 |
| 83 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.99 |
| 84 | Pilomatrixoma | Enrichment | CTNNB1 | 1.99 |
| 85 | Alazami syndrome | Enrichment | CTNNB1 | 1.99 |
| 86 | Mantle cell lymphoma | Enrichment | CCND1 | 1.99 |
| 87 | Cerebrovascular disease | Enrichment | PIK3CA | 1.99 |
| 88 | Craniopharyngioma | Enrichment | CTNNB1 | 1.99 |
| 89 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.99 |
| 90 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.99 |
| 91 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.89 |
| 92 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.89 |
| 93 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.89 |
| 94 | Osteopetrosis | Enrichment | CA2 | 1.89 |
| 95 | Hemimegalencephaly | Enrichment | PIK3CA | 1.89 |
| 96 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.81 |
| 97 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.81 |
| 98 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.81 |
| 99 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.81 |
| 100 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.81 |
| 101 | Nevus, epidermal | Enrichment | PIK3CA | 1.75 |
| 102 | Myelofibrosis | Enrichment | SRC | 1.75 |
| 103 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.75 |
| 104 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.75 |
| 105 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.69 |
| 106 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.64 |
| 107 | Arteriovenous malformation | Enrichment | PIK3CA | 1.64 |
| 108 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.59 |
| 109 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.59 |
| 110 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.59 |
| 111 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.55 |
| 112 | Inherited cancer-predisposing syndrome | Enrichment | CDH1 | 1.54 |
| 113 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | JUP | 1.52 |
| 114 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | JUP | 1.52 |
| 115 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.52 |
| 116 | Osteoporosis | Enrichment | SRC | 1.45 |
| 117 | Medulloblastoma | Enrichment | CTNNB1 | 1.45 |
| 118 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | JUP | 1.45 |
| 119 | Lynch syndrome | Enrichment | PIK3CA | 1.42 |
| 120 | Wolff-parkinson-white syndrome | Enrichment | JUP | 1.39 |
| 121 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | JUP | 1.39 |
| 122 | Polycystic liver disease | Enrichment | CTNNB1 | 1.37 |
| 123 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.37 |
| 124 | Craniosynostosis | Enrichment | CTNNA1 | 1.30 |
| 125 | Hepatoblastoma | Enrichment | CTNNB1 | 1.28 |
| 126 | Lung cancer | Enrichment | PIK3CA | 1.10 |
| 127 | Thrombocytopenia | Enrichment | SRC | 0.93 |
| 128 | Hypertelorism | Enrichment | PIK3CA | 0.90 |
| 129 | Hereditary breast ovarian cancer syndrome | Enrichment | CTNNA1 | 0.88 |
| 130 | Myeloma, multiple | Enrichment | CCND1 | 0.87 |
| 131 | Undetermined early-onset epileptic encephalopathy | Enrichment | CYFIP2 | 0.87 |
| 132 | Dilated cardiomyopathy | Enrichment | JUP | 0.73 |
| 133 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.62 |
| 134 | Nervous system disease | Enrichment | CTNNB1 | 0.62 |
| 135 | Microcephaly | Enrichment | CTNNB1 | 0.56 |
| 136 | Complex neurodevelopmental disorder | Enrichment | TIAM1 | 0.56 |
| 137 | Hereditary retinal dystrophy | Enrichment | CTNNA1 | 0.27 |
| 138 | Fundus dystrophy | Enrichment | CTNNA1 | 0.27 |