| 1 | Colorectal cancer | Enrichment | CDH1, CTNNA1, CTNNB1, PIK3CA, PIK3R1, SRC | 7.71 |
| 2 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.91 |
| 3 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, CTNNA1 | 4.61 |
| 4 | Gallbladder cancer | Enrichment | CTNNB1, PIK3CA | 4.07 |
| 5 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 3.94 |
| 6 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 3.83 |
| 7 | Meningioma | Enrichment | PDGFB, PIK3CA | 3.57 |
| 8 | Cleft lip/palate | Enrichment | CDH1, NECTIN1 | 3.43 |
| 9 | Endometrial cancer | Enrichment | CDH1, PIK3CA | 3.07 |
| 10 | Hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 3.03 |
| 11 | Ovarian cancer | Enrichment | CDH1, CTNNB1, PIK3CA | 2.94 |
| 12 | Bladder cancer | Enrichment | CTNNB1, PIK3CA | 2.79 |
| 13 | Prostate cancer | Enrichment | CDH1, PIK3CA | 2.79 |
| 14 | Macrodactyly | Enrichment | PIK3CA | 2.69 |
| 15 | Cleft lip/palate-ectodermal dysplasia syndrome | Enrichment | NECTIN1 | 2.69 |
| 16 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.69 |
| 17 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.69 |
| 18 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.69 |
| 19 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.69 |
| 20 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.69 |
| 21 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.69 |
| 22 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.69 |
| 23 | Short syndrome | Enrichment | PIK3R1 | 2.69 |
| 24 | Orofacial cleft 7 | Enrichment | NECTIN1 | 2.69 |
| 25 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.69 |
| 26 | 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 |
| 27 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.69 |
| 28 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.69 |
| 29 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.69 |
| 30 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.69 |
| 31 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.69 |
| 32 | Thrombocytopenia 6 | Enrichment | SRC | 2.69 |
| 33 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.69 |
| 34 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.69 |
| 35 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.69 |
| 36 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.69 |
| 37 | Hypospadias | Enrichment | PIK3CA | 2.69 |
| 38 | Breast lobular carcinoma | Enrichment | CDH1 | 2.69 |
| 39 | Rare venous malformation | Enrichment | PIK3CA | 2.69 |
| 40 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.69 |
| 41 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.69 |
| 42 | Capillary leak syndrome | Enrichment | TLN1 | 2.69 |
| 43 | Nocarh syndrome | Enrichment | CDC42 | 2.69 |
| 44 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.69 |
| 45 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.69 |
| 46 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.69 |
| 47 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.69 |
| 48 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.69 |
| 49 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.69 |
| 50 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.69 |
| 51 | Macrodactyly of toe | Enrichment | PIK3CA | 2.69 |
| 52 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.69 |
| 53 | Gastric cancer | Enrichment | CDH1, PIK3CA | 2.45 |
| 54 | Hereditary breast carcinoma | Enrichment | CDH1, PIK3CA | 2.43 |
| 55 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 2.38 |
| 56 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.38 |
| 57 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.38 |
| 58 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 2.38 |
| 59 | Lethal congenital contracture syndrome 3 | Enrichment | PIP5K1C | 2.38 |
| 60 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | Enrichment | CLDN1 | 2.38 |
| 61 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.38 |
| 62 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.38 |
| 63 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.38 |
| 64 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.38 |
| 65 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.38 |
| 66 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.38 |
| 67 | Immune system disease | Enrichment | CDC42 | 2.38 |
| 68 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.38 |
| 69 | Teratoma | Enrichment | CTNNB1 | 2.38 |
| 70 | Thrombocytopenia | Enrichment | ITGB3, SRC | 2.36 |
| 71 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.21 |
| 72 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 2.21 |
| 73 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 2.21 |
| 74 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.21 |
| 75 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.21 |
| 76 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.21 |
| 77 | Anus, imperforate | Enrichment | CTNNB1 | 2.21 |
| 78 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.21 |
| 79 | Desmoid tumor | Enrichment | CTNNB1 | 2.21 |
| 80 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.21 |
| 81 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 2.21 |
| 82 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 2.21 |
| 83 | Keratoacanthoma | Enrichment | PIK3CA | 2.21 |
| 84 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 2.08 |
| 85 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.08 |
| 86 | Pilomatrixoma | Enrichment | CTNNB1 | 2.08 |
| 87 | Alazami syndrome | Enrichment | CTNNB1 | 2.08 |
| 88 | Cerebrovascular disease | Enrichment | PIK3CA | 2.08 |
| 89 | Craniopharyngioma | Enrichment | CTNNB1 | 2.08 |
| 90 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 2.08 |
| 91 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.08 |
| 92 | Cleft lip and alveolus | Enrichment | NECTIN1 | 2.08 |
| 93 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.99 |
| 94 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.99 |
| 95 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.99 |
| 96 | Cleft upper lip | Enrichment | NECTIN1 | 1.99 |
| 97 | Hemimegalencephaly | Enrichment | PIK3CA | 1.99 |
| 98 | Primary hypereosinophilic syndrome | Enrichment | PDGFRB | 1.99 |
| 99 | Breast cancer | Enrichment | CDH1, PIK3CA | 1.98 |
| 100 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.91 |
| 101 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.91 |
| 102 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.91 |
| 103 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.91 |
| 104 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.91 |
| 105 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.91 |
| 106 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.91 |
| 107 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.91 |
| 108 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.91 |
| 109 | Nevus, epidermal | Enrichment | PIK3CA | 1.84 |
| 110 | Myelofibrosis | Enrichment | SRC | 1.84 |
| 111 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.84 |
| 112 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.84 |
| 113 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.84 |
| 114 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.79 |
| 115 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.73 |
| 116 | Arteriovenous malformation | Enrichment | PIK3CA | 1.73 |
| 117 | Cowden syndrome | Enrichment | PIK3CA | 1.73 |
| 118 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.69 |
| 119 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.69 |
| 120 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.69 |
| 121 | Meningioma, familial | Enrichment | PDGFB | 1.65 |
| 122 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.65 |
| 123 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.61 |
| 124 | Osteoporosis | Enrichment | SRC | 1.54 |
| 125 | Medulloblastoma | Enrichment | CTNNB1 | 1.54 |
| 126 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, CTNNA1 | 1.52 |
| 127 | Hydrocephalus | Enrichment | PDGFRB | 1.52 |
| 128 | Lynch syndrome | Enrichment | PIK3CA | 1.52 |
| 129 | Dandy-walker syndrome | Enrichment | PDGFRB | 1.46 |
| 130 | Polycystic liver disease | Enrichment | CTNNB1 | 1.46 |
| 131 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.46 |
| 132 | Craniosynostosis | Enrichment | CTNNA1 | 1.39 |
| 133 | Hepatoblastoma | Enrichment | CTNNB1 | 1.37 |
| 134 | Myocardial infarction | Enrichment | ITGB3 | 1.35 |
| 135 | Severe covid-19 | Enrichment | ITGAV | 1.23 |
| 136 | Lung cancer | Enrichment | PIK3CA | 1.19 |
| 137 | Cerebral palsy | Enrichment | PDGFRB | 1.11 |
| 138 | Hypertelorism | Enrichment | PIK3CA | 0.99 |
| 139 | Hereditary breast ovarian cancer syndrome | Enrichment | CTNNA1 | 0.97 |
| 140 | Schizophrenia | Enrichment | PTPRM | 0.94 |
| 141 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.70 |
| 142 | Nervous system disease | Enrichment | CTNNB1 | 0.70 |
| 143 | Microcephaly | Enrichment | CTNNB1 | 0.65 |
| 144 | Hereditary retinal dystrophy | Enrichment | CTNNA1 | 0.34 |
| 145 | Fundus dystrophy | Enrichment | CTNNA1 | 0.34 |