| 1 | Angioedema, hereditary, 1 | Enrichment | F12, PLG, SERPING1 | 7.35 |
| 2 | Dysfibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 7.35 |
| 3 | Familial dysfibrinogenemia | Enrichment | FGA, FGB, FGG | 7.35 |
| 4 | Familial hypofibrinogenemia | Enrichment | FGA, FGB, FGG | 7.35 |
| 5 | Digenic alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 7.35 |
| 6 | Afibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 6.75 |
| 7 | Alport syndrome 3a, autosomal dominant | Enrichment | COL4A3, COL4A4, COL4A5 | 6.36 |
| 8 | Autosomal dominant alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 6.36 |
| 9 | Alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 6.36 |
| 10 | Loeys-dietz syndrome | Enrichment | TGFB2, TGFBR1, TGFBR2 | 5.44 |
| 11 | Marfan syndrome | Enrichment | TGFB2, TGFBR1, TGFBR2 | 5.28 |
| 12 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 4.89 |
| 13 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 4.89 |
| 14 | Hereditary angioedema | Enrichment | F12, PLG | 4.89 |
| 15 | Angioedema | Enrichment | F12, SERPING1 | 4.89 |
| 16 | X-linked diffuse leiomyomatosis-alport syndrome | Enrichment | COL4A5, COL4A6 | 4.89 |
| 17 | Nephrotic syndrome | Enrichment | COL4A3, COL4A4, COL4A5, FN1 | 4.78 |
| 18 | Kidney disease | Enrichment | COL4A3, COL4A4, COL4A5 | 4.71 |
| 19 | Hypertension | Enrichment | COL4A4, COL4A5, F12 | 4.62 |
| 20 | Hematuria, benign familial, 1 | Enrichment | COL4A3, COL4A4 | 4.42 |
| 21 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.42 |
| 22 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.42 |
| 23 | Loeys-dietz syndrome 1 | Enrichment | TGFBR1, TGFBR2 | 4.42 |
| 24 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.42 |
| 25 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1, COL4A2 | 4.12 |
| 26 | Alport syndrome 2, autosomal recessive | Enrichment | COL4A3, COL4A4 | 4.12 |
| 27 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 4.12 |
| 28 | Autosomal recessive alport syndrome | Enrichment | COL4A3, COL4A4 | 4.12 |
| 29 | Familial porencephaly | Enrichment | COL4A1, COL4A2 | 3.90 |
| 30 | Hemorrhage, intracerebral | Enrichment | COL4A1, COL4A2 | 3.72 |
| 31 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | TGFB2, TGFBR1, TGFBR2 | 3.28 |
| 32 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.25 |
| 33 | Chronic kidney disease | Enrichment | COL4A4, COL4A5 | 3.01 |
| 34 | Lynch syndrome | Enrichment | PIK3CA, TGFBR2 | 2.89 |
| 35 | Ehlers-danlos syndrome | Enrichment | TGFB2, TGFBR2 | 2.68 |
| 36 | Focal segmental glomerulosclerosis | Enrichment | COL4A4, COL4A5 | 2.63 |
| 37 | Macrodactyly | Enrichment | PIK3CA | 2.44 |
| 38 | Complement component 4, partial deficiency of | Enrichment | SERPING1 | 2.44 |
| 39 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.44 |
| 40 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.44 |
| 41 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.44 |
| 42 | Alport syndrome 1, x-linked | Enrichment | COL4A5 | 2.44 |
| 43 | Lymphoproliferative syndrome, x-linked, 2 | Enrichment | XIAP | 2.44 |
| 44 | Angioedema, hereditary, 3 | Enrichment | F12 | 2.44 |
| 45 | Encephalopathy, familial, with neuroserpin inclusion bodies | Enrichment | SERPINI1 | 2.44 |
| 46 | Prekallikrein deficiency | Enrichment | KLKB1 | 2.44 |
| 47 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.44 |
| 48 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.44 |
| 49 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.44 |
| 50 | Lissencephaly 5 | Enrichment | LAMB1 | 2.44 |
| 51 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.44 |
| 52 | Angioedema, hereditary, 4 | Enrichment | PLG | 2.44 |
| 53 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.44 |
| 54 | Deafness, x-linked 6 | Enrichment | COL4A6 | 2.44 |
| 55 | Short syndrome | Enrichment | PIK3R1 | 2.44 |
| 56 | Porencephaly | Enrichment | COL4A1 | 2.44 |
| 57 | Netherton syndrome | Enrichment | SPINK5 | 2.44 |
| 58 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.44 |
| 59 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.44 |
| 60 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.44 |
| 61 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.44 |
| 62 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.44 |
| 63 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.44 |
| 64 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.44 |
| 65 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.44 |
| 66 | Hartsfield syndrome | Enrichment | FGFR1 | 2.44 |
| 67 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.44 |
| 68 | Tufted angioma of skin | Enrichment | KDR | 2.44 |
| 69 | Col4a1-related disorders | Enrichment | COL4A1 | 2.44 |
| 70 | Congenital fibrinogen deficiency | Enrichment | FGG | 2.44 |
| 71 | Hypospadias | Enrichment | PIK3CA | 2.44 |
| 72 | C1 inhibitor deficiency | Enrichment | SERPING1 | 2.44 |
| 73 | Ichthyosis linearis circumflexa | Enrichment | SPINK5 | 2.44 |
| 74 | Rare venous malformation | Enrichment | PIK3CA | 2.44 |
| 75 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 2.44 |
| 76 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.44 |
| 77 | Urticaria | Enrichment | F12 | 2.44 |
| 78 | X-linked alport syndrome | Enrichment | COL4A5 | 2.44 |
| 79 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.44 |
| 80 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.44 |
| 81 | Hereditary angioedema with c1inh deficiency | Enrichment | SERPING1 | 2.44 |
| 82 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.44 |
| 83 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.44 |
| 84 | Lethal hydranencephaly-diaphragmatic hernia syndrome | Enrichment | PLAT | 2.44 |
| 85 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.44 |
| 86 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.44 |
| 87 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.44 |
| 88 | F12-associated cold autoinflammatory syndrome | Enrichment | F12 | 2.44 |
| 89 | Macrodactyly of toe | Enrichment | PIK3CA | 2.44 |
| 90 | Inherited prekallikrein deficiency | Enrichment | KLKB1 | 2.44 |
| 91 | Cystic fibrosis | Enrichment | PLG, TGFB1 | 2.23 |
| 92 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.14 |
| 93 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 2.14 |
| 94 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 2.14 |
| 95 | Metaphyseal dysplasia, spahr type | Enrichment | MMP13 | 2.14 |
| 96 | Plasminogen deficiency, type i | Enrichment | PLG | 2.14 |
| 97 | Spondyloepimetaphyseal dysplasia, missouri type | Enrichment | MMP13 | 2.14 |
| 98 | Quebec platelet disorder | Enrichment | PLAU | 2.14 |
| 99 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 2.14 |
| 100 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.14 |
| 101 | Pfeiffer syndrome | Enrichment | FGFR1 | 2.14 |
| 102 | Jackson-weiss syndrome | Enrichment | FGFR1 | 2.14 |
| 103 | Lissencephaly 1 | Enrichment | LAMB1 | 2.14 |
| 104 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 2.14 |
| 105 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.14 |
| 106 | Specific language impairment 5 | Enrichment | COL4A4 | 2.14 |
| 107 | Factor xii deficiency | Enrichment | F12 | 2.14 |
| 108 | Angioma, tufted | Enrichment | KDR | 2.14 |
| 109 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.14 |
| 110 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | Enrichment | COL4A2 | 2.14 |
| 111 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.14 |
| 112 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.14 |
| 113 | Glomerulonephritis | Enrichment | COL4A4 | 2.14 |
| 114 | Loeys-dietz syndrome 4 | Enrichment | TGFB2 | 2.14 |
| 115 | Immune system disease | Enrichment | PIK3CD | 2.14 |
| 116 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 2.14 |
| 117 | Metaphyseal anadysplasia | Enrichment | MMP13 | 2.14 |
| 118 | Cerebral palsy | Enrichment | COL4A1, COL4A2 | 2.06 |
| 119 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 1.97 |
| 120 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.97 |
| 121 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.97 |
| 122 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.97 |
| 123 | Brain small vessel disease 2 | Enrichment | COL4A2 | 1.97 |
| 124 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.97 |
| 125 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 1.97 |
| 126 | Pilarowski-bjornsson syndrome | Enrichment | COL4A3 | 1.97 |
| 127 | Alport syndrome 3b, autosomal recessive | Enrichment | COL4A3 | 1.97 |
| 128 | Poretti-boltshauser syndrome | Enrichment | LAMA1 | 1.97 |
| 129 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 1.97 |
| 130 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 1.97 |
| 131 | Hematuria, benign familial, 2 | Enrichment | COL4A3 | 1.97 |
| 132 | Keratoacanthoma | Enrichment | PIK3CA | 1.97 |
| 133 | Otitis media | Enrichment | SPINK5 | 1.84 |
| 134 | Schizencephaly | Enrichment | COL4A1 | 1.84 |
| 135 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.84 |
| 136 | Lymphoproliferative syndrome 2 | Enrichment | XIAP | 1.84 |
| 137 | Cerebrovascular disease | Enrichment | PIK3CA | 1.84 |
| 138 | Aortic aneurysm | Enrichment | TGFBR1 | 1.84 |
| 139 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.84 |
| 140 | Rare x-linked non-syndromic sensorineural deafness type dfn | Enrichment | COL4A6 | 1.84 |
| 141 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.75 |
| 142 | Alzheimer disease 2 | Enrichment | PLAU | 1.75 |
| 143 | Amyloidosis, hereditary systemic 2 | Enrichment | FGA | 1.75 |
| 144 | Holoprosencephaly | Enrichment | FGFR1 | 1.75 |
| 145 | Hemimegalencephaly | Enrichment | PIK3CA | 1.75 |
| 146 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.75 |
| 147 | Familial cerebral saccular aneurysm | Enrichment | TGFBR3 | 1.75 |
| 148 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.67 |
| 149 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.67 |
| 150 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.67 |
| 151 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.67 |
| 152 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.67 |
| 153 | Hemangioma, capillary infantile | Enrichment | KDR | 1.67 |
| 154 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 1.67 |
| 155 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.67 |
| 156 | Keratoconus | Enrichment | COL4A1 | 1.67 |
| 157 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.67 |
| 158 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.67 |
| 159 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.67 |
| 160 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.67 |
| 161 | Esophageal cancer | Enrichment | TGFBR2 | 1.60 |
| 162 | Nevus, epidermal | Enrichment | PIK3CA | 1.60 |
| 163 | Thrombophilia due to thrombin defect | Enrichment | FGA | 1.60 |
| 164 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.60 |
| 165 | Gallbladder cancer | Enrichment | PIK3CA | 1.60 |
| 166 | Pilomyxoid astrocytoma | Enrichment | FGFR1 | 1.60 |
| 167 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.60 |
| 168 | Spastic paraplegia 4, autosomal dominant | Enrichment | FGG | 1.54 |
| 169 | Arteriovenous malformation | Enrichment | PIK3CA | 1.49 |
| 170 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.49 |
| 171 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.49 |
| 172 | Cowden syndrome | Enrichment | PIK3CA | 1.49 |
| 173 | Peters-plus syndrome | Enrichment | COL4A1 | 1.45 |
| 174 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.45 |
| 175 | Pectus excavatum | Enrichment | TGFBR1 | 1.41 |
| 176 | Bilirubin metabolic disorder | Enrichment | F12 | 1.41 |
| 177 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.41 |
| 178 | Colorectal cancer | Enrichment | PIK3CA, PIK3R1 | 1.40 |
| 179 | Septooptic dysplasia | Enrichment | FGFR1 | 1.37 |
| 180 | Meningioma | Enrichment | PIK3CA | 1.37 |
| 181 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.37 |
| 182 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.34 |
| 183 | Multiple sclerosis | Enrichment | LAMB1 | 1.31 |
| 184 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.31 |
| 185 | Walker-warburg syndrome | Enrichment | COL4A1 | 1.31 |
| 186 | Isolated macular dystrophy | Enrichment | COL4A5 | 1.31 |
| 187 | Corpus callosum, agenesis of | Enrichment | COL4A1 | 1.28 |
| 188 | Myopia | Enrichment | COL4A4 | 1.28 |
| 189 | Anterior segment dysgenesis | Enrichment | COL4A1 | 1.28 |
| 190 | Atypical hemolytic-uremic syndrome | Enrichment | COL4A5 | 1.28 |
| 191 | Isolated corpus callosum agenesis | Enrichment | COL4A1 | 1.28 |
| 192 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | COL4A1 | 1.28 |
| 193 | Gliosarcoma | Enrichment | FGFR1 | 1.25 |
| 194 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.25 |
| 195 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.25 |
| 196 | Alzheimer disease, familial, 1 | Enrichment | PLAU | 1.22 |
| 197 | Giant cell glioblastoma | Enrichment | FGFR1 | 1.22 |
| 198 | Polycystic kidney disease | Enrichment | COL4A4 | 1.20 |
| 199 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 1.20 |
| 200 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.20 |
| 201 | Endometrial cancer | Enrichment | PIK3CA | 1.14 |
| 202 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.12 |
| 203 | Tooth agenesis | Enrichment | FGFR1 | 1.12 |
| 204 | Kallmann syndrome | Enrichment | FGFR1 | 1.10 |
| 205 | Autoinflammatory disease | Enrichment | XIAP | 1.08 |
| 206 | Tetralogy of fallot | Enrichment | KDR | 1.05 |
| 207 | Bladder cancer | Enrichment | PIK3CA | 1.00 |
| 208 | Prostate cancer | Enrichment | PIK3CA | 1.00 |
| 209 | Lung cancer | Enrichment | PIK3CA | 0.96 |
| 210 | Connective tissue disease | Enrichment | TGFBR2 | 0.96 |
| 211 | Cakut | Enrichment | COL4A1 | 0.94 |
| 212 | Genetic steroid-resistant nephrotic syndrome | Enrichment | COL4A3 | 0.94 |
| 213 | Gastric cancer | Enrichment | PIK3CA | 0.84 |
| 214 | Hereditary breast carcinoma | Enrichment | PIK3CA | 0.83 |
| 215 | Thrombocytopenia | Enrichment | FGG | 0.80 |
| 216 | Hypertelorism | Enrichment | PIK3CA | 0.76 |
| 217 | Myeloma, multiple | Enrichment | PIK3R2 | 0.74 |
| 218 | Primary ovarian insufficiency | Enrichment | KDR | 0.72 |
| 219 | Breast cancer | Enrichment | PIK3CA | 0.62 |
| 220 | Rare genetic deafness | Enrichment | COL4A5 | 0.60 |
| 221 | Ovarian cancer | Enrichment | PIK3CA | 0.51 |
| 222 | Congenital nervous system abnormality | Enrichment | SERPINI1 | 0.50 |
| 223 | Nervous system disease | Enrichment | SERPINI1 | 0.50 |
| 224 | Microcephaly | Enrichment | COL4A1 | 0.44 |
| 225 | Hereditary retinal dystrophy | Enrichment | LAMA1 | 0.18 |
| 226 | Fundus dystrophy | Enrichment | LAMA1 | 0.18 |