| 1 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | FBN1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 | 11.34 |
| 2 | Loeys-dietz syndrome | Enrichment | FBN1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 | 11.25 |
| 3 | Marfan syndrome | Enrichment | FBN1, LTBP2, TGFB2, TGFBR1, TGFBR2 | 10.06 |
| 4 | Loeys-dietz syndrome 1 | Enrichment | SMAD2, TGFBR1, TGFBR2 | 9.95 |
| 5 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 7.19 |
| 6 | Aortic aneurysm | Enrichment | FBN1, SMAD3, TGFBR1 | 6.81 |
| 7 | Acromicric dysplasia | Enrichment | FBN1, LTBP3 | 4.93 |
| 8 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 4.93 |
| 9 | Weill-marchesani syndrome 1 | Enrichment | FBN1, LTBP2 | 4.45 |
| 10 | Geleophysic dysplasia | Enrichment | FBN1, LTBP3 | 4.45 |
| 11 | Ehlers-danlos syndrome | Enrichment | SMAD3, TGFB2, TGFBR2 | 4.44 |
| 12 | Weill-marchesani syndrome | Enrichment | FBN1, LTBP2 | 4.15 |
| 13 | Connective tissue disease | Enrichment | SMAD3, TGFBR2 | 3.95 |
| 14 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 3.53 |
| 15 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 3.53 |
| 16 | Familial thoracic aortic aneurysm and dissection | Enrichment | FBN1, SMAD3 | 3.38 |
| 17 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 3.29 |
| 18 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 3.29 |
| 19 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 3.29 |
| 20 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 3.23 |
| 21 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 3.23 |
| 22 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 3.23 |
| 23 | Camurati-engelmann disease | Enrichment | TGFB1 | 3.23 |
| 24 | Pectus excavatum | Enrichment | FBN1, TGFBR1 | 3.20 |
| 25 | Myhre syndrome | Enrichment | SMAD4 | 2.99 |
| 26 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.99 |
| 27 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.99 |
| 28 | Aortic aneurysm, familial thoracic 1 | Enrichment | FBN1, SMAD3 | 2.98 |
| 29 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 2.81 |
| 30 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 2.75 |
| 31 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 2.75 |
| 32 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 2.75 |
| 33 | Colorectal cancer 3 | Enrichment | SMAD7 | 2.72 |
| 34 | Noonan syndrome-like disorder with loose anagen hair 2 | Enrichment | PPP1CB | 2.72 |
| 35 | Periventricular nodular heterotopia 7 | Enrichment | NEDD4L | 2.72 |
| 36 | Esophageal cancer | Enrichment | TGFBR2 | 2.69 |
| 37 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 2.59 |
| 38 | Noonan syndrome 1 | Enrichment | CBL, PPP1CB | 2.55 |
| 39 | Ectopia lentis 1, isolated, autosomal dominant | Enrichment | FBN1 | 2.46 |
| 40 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | Enrichment | LTBP2 | 2.46 |
| 41 | Glaucoma 3, primary congenital, d | Enrichment | LTBP2 | 2.46 |
| 42 | Weill-marchesani syndrome 2 | Enrichment | FBN1 | 2.46 |
| 43 | Geleophysic dysplasia 2 | Enrichment | FBN1 | 2.46 |
| 44 | Protrusio acetabuli | Enrichment | FBN1 | 2.46 |
| 45 | Weill-marchesani syndrome 3 | Enrichment | LTBP2 | 2.46 |
| 46 | Lymphoplasmacytic lymphoma | Enrichment | FBN1 | 2.46 |
| 47 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.46 |
| 48 | Geleophysic dysplasia 3 | Enrichment | LTBP3 | 2.46 |
| 49 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.46 |
| 50 | Cutis laxa, autosomal recessive, type iie | Enrichment | LTBP1 | 2.46 |
| 51 | Amelogenesis imperfecta, type ih | Enrichment | ITGB6 | 2.46 |
| 52 | Glaucoma secondary to spherophakia/ectopia lentis and megalocornea | Enrichment | LTBP2 | 2.46 |
| 53 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.46 |
| 54 | Neonatal marfan syndrome | Enrichment | FBN1 | 2.46 |
| 55 | Gallbladder cancer | Enrichment | SMAD4 | 2.44 |
| 56 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 2.44 |
| 57 | Rasopathy | Enrichment | CBL, PPP1CB | 2.44 |
| 58 | Spinocerebellar ataxia 48 | Enrichment | STUB1 | 2.42 |
| 59 | Noonan syndrome-like disorder with loose anagen hair | Enrichment | PPP1CB | 2.42 |
| 60 | Primary mediastinal large b-cell lymphoma | Enrichment | XPO1 | 2.42 |
| 61 | Submucosal cleft palate | Enrichment | UBB | 2.42 |
| 62 | Cleft hard palate | Enrichment | UBB | 2.42 |
| 63 | Lynch syndrome | Enrichment | TGFBR2 | 2.35 |
| 64 | Uvula, bifid | Enrichment | UBB | 2.24 |
| 65 | Cleft soft palate | Enrichment | UBB | 2.24 |
| 66 | Chromosome 5q14.3 deletion syndrome, distal | Enrichment | NEDD4L | 2.24 |
| 67 | Stiff skin syndrome | Enrichment | FBN1 | 2.16 |
| 68 | Ovarian germ cell cancer | Enrichment | CBL | 2.16 |
| 69 | Cutis laxa, autosomal recessive, type ic | Enrichment | LTBP4 | 2.16 |
| 70 | Beaulieu-boycott-innes syndrome | Enrichment | FBN1 | 2.16 |
| 71 | Aortic dissection | Enrichment | FBN1 | 2.16 |
| 72 | Marfanoid-progeroid-lipodystrophy syndrome | Enrichment | FBN1 | 2.16 |
| 73 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.16 |
| 74 | Lens subluxation | Enrichment | FBN1 | 2.16 |
| 75 | Cystic fibrosis | Enrichment | TGFB1 | 2.03 |
| 76 | Contractural arachnodactyly, congenital | Enrichment | FBN1 | 1.98 |
| 77 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.98 |
| 78 | Achondroplasia | Enrichment | FBN1 | 1.98 |
| 79 | Mccune-albright syndrome | Enrichment | FBN1 | 1.98 |
| 80 | Exfoliation syndrome | Enrichment | LTBP2 | 1.98 |
| 81 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.98 |
| 82 | Muscular dystrophy, duchenne type | Enrichment | LTBP4 | 1.98 |
| 83 | Autosomal recessive cutis laxa type i | Enrichment | LTBP1 | 1.98 |
| 84 | Isolated ectopia lentis | Enrichment | FBN1 | 1.98 |
| 85 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.98 |
| 86 | Alopecia - intellectual disability syndrome | Enrichment | ITGB6 | 1.98 |
| 87 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | STUB1 | 1.94 |
| 88 | Thrombocytopenia | Enrichment | ITGB3, SMAD4 | 1.92 |
| 89 | Pancreatic cancer | Enrichment | SMAD4 | 1.89 |
| 90 | Amelogenesis imperfecta, type iiia | Enrichment | ITGB6 | 1.86 |
| 91 | Glaucoma 3, primary infantile, b | Enrichment | LTBP2 | 1.86 |
| 92 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL | 1.86 |
| 93 | Mitral valve insufficiency | Enrichment | FBN1 | 1.86 |
| 94 | Polycystic liver disease 1 with or without kidney cysts | Enrichment | FBN1 | 1.76 |
| 95 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.76 |
| 96 | Arthrogryposis, renal dysfunction, and cholestasis 1 | Enrichment | FBN1 | 1.76 |
| 97 | Goldberg-shprintzen syndrome | Enrichment | FBN1 | 1.76 |
| 98 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.76 |
| 99 | Polycystic liver disease 1 | Enrichment | FBN1 | 1.76 |
| 100 | Myeloproliferative neoplasm | Enrichment | CBL | 1.76 |
| 101 | Juvenile glaucoma | Enrichment | LTBP2 | 1.76 |
| 102 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.76 |
| 103 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.76 |
| 104 | Familial cerebral saccular aneurysm | Enrichment | TGFBR3 | 1.76 |
| 105 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.69 |
| 106 | Glaucoma, primary open angle | Enrichment | LTBP2 | 1.69 |
| 107 | Dental anomalies and short stature | Enrichment | LTBP3 | 1.69 |
| 108 | Inguinal hernia | Enrichment | FBN1 | 1.69 |
| 109 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.69 |
| 110 | Gastric cancer | Enrichment | SMAD4 | 1.66 |
| 111 | Glaucoma 3, primary congenital, a | Enrichment | LTBP2 | 1.62 |
| 112 | Brugada syndrome 1 | Enrichment | FBN1 | 1.62 |
| 113 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.62 |
| 114 | Periventricular nodular heterotopia | Enrichment | NEDD4L | 1.58 |
| 115 | Renal hypodysplasia/aplasia 1 | Enrichment | ITGA8 | 1.56 |
| 116 | Orthostatic intolerance | Enrichment | FBN1 | 1.56 |
| 117 | Renal agenesis, bilateral | Enrichment | ITGA8 | 1.51 |
| 118 | Dandy-walker syndrome | Enrichment | PPP1CB | 1.49 |
| 119 | Amelogenesis imperfecta, type ie | Enrichment | ITGB6 | 1.47 |
| 120 | Stroke, ischemic | Enrichment | FBN1 | 1.47 |
| 121 | Melanoma | Enrichment | FBN1 | 1.47 |
| 122 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.47 |
| 123 | Juvenile myelomonocytic leukemia | Enrichment | CBL | 1.39 |
| 124 | Cutis laxa | Enrichment | LTBP4 | 1.39 |
| 125 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.39 |
| 126 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.39 |
| 127 | Colorectal cancer | Enrichment | SMAD4 | 1.36 |
| 128 | Diaphragmatic hernia, congenital | Enrichment | FBN1 | 1.36 |
| 129 | Neural tube defects | Enrichment | ITGB1 | 1.36 |
| 130 | Amelogenesis imperfecta | Enrichment | LTBP3 | 1.36 |
| 131 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 1.32 |
| 132 | Myopia | Enrichment | FBN1 | 1.29 |
| 133 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL | 1.29 |
| 134 | Perrault syndrome 1 | Enrichment | FBN1 | 1.27 |
| 135 | Rhabdomyosarcoma | Enrichment | CBL | 1.27 |
| 136 | Inherited cancer-predisposing syndrome | Enrichment | SMAD4 | 1.18 |
| 137 | Myocardial infarction | Enrichment | ITGB3 | 1.13 |
| 138 | Scoliosis | Enrichment | FBN1 | 1.10 |
| 139 | Severe covid-19 | Enrichment | ITGAV | 1.02 |
| 140 | Myopathy | Enrichment | FBN1 | 0.89 |
| 141 | Dilated cardiomyopathy | Enrichment | FBN1 | 0.61 |