| 1 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 5.52 |
| 2 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 5.52 |
| 3 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 5.05 |
| 4 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 5.05 |
| 5 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 4.75 |
| 6 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 4.75 |
| 7 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2 | 4.35 |
| 8 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 4.35 |
| 9 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 4.35 |
| 10 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 4.35 |
| 11 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 4.20 |
| 12 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.97 |
| 13 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 3.87 |
| 14 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 3.79 |
| 15 | Meningioma | Enrichment | AKT1, PIK3CA | 3.71 |
| 16 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 3.64 |
| 17 | Osteoporosis | Enrichment | COL1A1, COL1A2 | 3.57 |
| 18 | Breast cancer | Enrichment | AKT1, PIK3CA, SHC1 | 3.52 |
| 19 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 3.51 |
| 20 | Colorectal cancer | Enrichment | AKT1, PIK3CA, PIK3R1 | 3.33 |
| 21 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 3.30 |
| 22 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 3.13 |
| 23 | Macrodactyly | Enrichment | PIK3CA | 2.75 |
| 24 | Proteus syndrome | Enrichment | AKT1 | 2.75 |
| 25 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.75 |
| 26 | Noonan syndrome 4 | Enrichment | SOS1 | 2.75 |
| 27 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.75 |
| 28 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.75 |
| 29 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.75 |
| 30 | Short syndrome | Enrichment | PIK3R1 | 2.75 |
| 31 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.75 |
| 32 | Hereditary lymphedema id | Enrichment | VEGFC | 2.75 |
| 33 | Lymphatic malformation 4 | Enrichment | VEGFC | 2.75 |
| 34 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.75 |
| 35 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.75 |
| 36 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.75 |
| 37 | Cowden syndrome 6 | Enrichment | AKT1 | 2.75 |
| 38 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.75 |
| 39 | Congenital heart defects, multiple types, 7 | Enrichment | FLT4 | 2.75 |
| 40 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.75 |
| 41 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.75 |
| 42 | Hypospadias | Enrichment | PIK3CA | 2.75 |
| 43 | Rare venous malformation | Enrichment | PIK3CA | 2.75 |
| 44 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 2.75 |
| 45 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.75 |
| 46 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.75 |
| 47 | Congenital primary lymphedema of gordon | Enrichment | VEGFC | 2.75 |
| 48 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.75 |
| 49 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.75 |
| 50 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.75 |
| 51 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.75 |
| 52 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.75 |
| 53 | Macrodactyly of toe | Enrichment | PIK3CA | 2.75 |
| 54 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 2.57 |
| 55 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.45 |
| 56 | Lymphatic malformation 1 | Enrichment | FLT4 | 2.45 |
| 57 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.45 |
| 58 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 2.45 |
| 59 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 2.45 |
| 60 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.45 |
| 61 | Intracranial hypertension, idiopathic | Enrichment | FLT4 | 2.45 |
| 62 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.45 |
| 63 | Pulmonic stenosis | Enrichment | SOS1 | 2.45 |
| 64 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.45 |
| 65 | Seizures, benign familial infantile, 2 | Enrichment | PRRT2 | 2.45 |
| 66 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.45 |
| 67 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.45 |
| 68 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.45 |
| 69 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.45 |
| 70 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.45 |
| 71 | Hereditary lymphedema i | Enrichment | FLT4 | 2.45 |
| 72 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.45 |
| 73 | Prrt2-related disorder | Enrichment | PRRT2 | 2.45 |
| 74 | Hypertelorism | Enrichment | COL1A1, PIK3CA | 2.42 |
| 75 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.28 |
| 76 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 2.28 |
| 77 | Nuchal bleb, familial | Enrichment | SOS1 | 2.28 |
| 78 | Glut1 deficiency syndrome 2 | Enrichment | PRRT2 | 2.28 |
| 79 | Caffey disease | Enrichment | COL1A1 | 2.28 |
| 80 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.28 |
| 81 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.28 |
| 82 | Melanoma of soft tissue | Enrichment | CREB1 | 2.28 |
| 83 | Keratoacanthoma | Enrichment | PIK3CA | 2.28 |
| 84 | Paroxysmal nonkinesigenic dyskinesia 1 | Enrichment | PRRT2 | 2.15 |
| 85 | Episodic kinesigenic dyskinesia 1 | Enrichment | PRRT2 | 2.15 |
| 86 | Phenylketonuria | Enrichment | COL1A1 | 2.15 |
| 87 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.15 |
| 88 | Retinitis pigmentosa 26 | Enrichment | ITGA4 | 2.15 |
| 89 | Cerebrovascular disease | Enrichment | PIK3CA | 2.15 |
| 90 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.15 |
| 91 | Familial paroxysmal nonkinesigenic dyskinesia | Enrichment | PRRT2 | 2.15 |
| 92 | Familial or sporadic hemiplegic migraine | Enrichment | PRRT2 | 2.15 |
| 93 | Gingival fibromatosis | Enrichment | SOS1 | 2.15 |
| 94 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.05 |
| 95 | Convulsions, familial infantile, with paroxysmal choreoathetosis | Enrichment | PRRT2 | 2.05 |
| 96 | Hemimegalencephaly | Enrichment | PIK3CA | 2.05 |
| 97 | Self-limited infantile epilepsy | Enrichment | PRRT2 | 2.05 |
| 98 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.98 |
| 99 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.98 |
| 100 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.98 |
| 101 | Hemangioma, capillary infantile | Enrichment | FLT4 | 1.98 |
| 102 | Keratoconus | Enrichment | COL1A1 | 1.98 |
| 103 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2 | 1.98 |
| 104 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.98 |
| 105 | Nevus, epidermal | Enrichment | PIK3CA | 1.91 |
| 106 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.91 |
| 107 | Noonan syndrome 3 | Enrichment | SOS1 | 1.91 |
| 108 | Gallbladder cancer | Enrichment | PIK3CA | 1.91 |
| 109 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.91 |
| 110 | Ovarian cancer | Enrichment | AKT1, PIK3CA | 1.87 |
| 111 | Arteriovenous malformation | Enrichment | PIK3CA | 1.80 |
| 112 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.80 |
| 113 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.76 |
| 114 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.76 |
| 115 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.71 |
| 116 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.68 |
| 117 | Aortic valve disease 1 | Enrichment | SOS1 | 1.64 |
| 118 | Neural tube defects | Enrichment | ITGB1 | 1.64 |
| 119 | Generalized epilepsy with febrile seizures plus | Enrichment | PRRT2 | 1.61 |
| 120 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.61 |
| 121 | Isolated macular dystrophy | Enrichment | ITGA4 | 1.61 |
| 122 | Lynch syndrome | Enrichment | PIK3CA | 1.58 |
| 123 | Noonan syndrome and noonan-related syndrome | Enrichment | SOS1 | 1.58 |
| 124 | Endometrial cancer | Enrichment | PIK3CA | 1.44 |
| 125 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.42 |
| 126 | Noonan syndrome 1 | Enrichment | SOS1 | 1.40 |
| 127 | Tetralogy of fallot | Enrichment | FLT4 | 1.35 |
| 128 | Hydrops fetalis, nonimmune | Enrichment | FLT4 | 1.35 |
| 129 | Rasopathy | Enrichment | SOS1 | 1.35 |
| 130 | Bladder cancer | Enrichment | PIK3CA | 1.30 |
| 131 | Prostate cancer | Enrichment | PIK3CA | 1.30 |
| 132 | Non-immune hydrops fetalis | Enrichment | FLT4 | 1.27 |
| 133 | Lung cancer | Enrichment | PIK3CA | 1.26 |
| 134 | Gastric cancer | Enrichment | PIK3CA | 1.13 |
| 135 | Nephrotic syndrome | Enrichment | FN1 | 1.13 |
| 136 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1 | 1.12 |
| 137 | Cone-rod dystrophy 2 | Enrichment | ITGA4 | 0.94 |
| 138 | Hereditary retinal dystrophy | Enrichment | ITGA4 | 0.39 |
| 139 | Fundus dystrophy | Enrichment | ITGA4 | 0.39 |