| 1 | Marfan syndrome | Enrichment | FBN1, FBN2, LTBP2, TGFBR1, TGFBR2 | 16.00 |
| 2 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | FBN1, FBN2, FLNA, SMAD2, SMAD3, SMAD4, TGFBR1, TGFBR2 | 11.27 |
| 3 | Loeys-dietz syndrome | Enrichment | FBN1, SMAD2, SMAD3, TGFBR1, TGFBR2 | 10.91 |
| 4 | Loeys-dietz syndrome 1 | Enrichment | SMAD2, TGFBR1, TGFBR2 | 8.26 |
| 5 | Aortic aneurysm | Enrichment | FBN1, SMAD3, TGFBR1 | 7.66 |
| 6 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 5.49 |
| 7 | Ehlers-danlos syndrome | Enrichment | FBN2, SMAD3, TGFBR2 | 5.28 |
| 8 | Contractural arachnodactyly, congenital | Enrichment | FBN1, FBN2 | 5.01 |
| 9 | Weill-marchesani syndrome 1 | Enrichment | FBN1, LTBP2 | 5.01 |
| 10 | Weill-marchesani syndrome | Enrichment | FBN1, LTBP2 | 4.71 |
| 11 | Connective tissue disease | Enrichment | FBN1, SMAD3, TGFBR2 | 4.58 |
| 12 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | ENG, SMAD4 | 4.49 |
| 13 | Familial cerebral saccular aneurysm | Enrichment | ENG, TGFBR3 | 4.49 |
| 14 | Hereditary hemorrhagic telangiectasia | Enrichment | ENG, SMAD4 | 4.17 |
| 15 | Familial thoracic aortic aneurysm and dissection | Enrichment | FBN1, SMAD3 | 3.93 |
| 16 | Pectus excavatum | Enrichment | FBN1, TGFBR1 | 3.75 |
| 17 | Aortic aneurysm, familial thoracic 1 | Enrichment | FBN1, SMAD3 | 3.53 |
| 18 | Ectopia lentis 1, isolated, autosomal dominant | Enrichment | FBN1 | 2.73 |
| 19 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | Enrichment | LTBP2 | 2.73 |
| 20 | Otopalatodigital syndrome, type i | Enrichment | FLNA | 2.73 |
| 21 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked | Enrichment | FLNA | 2.73 |
| 22 | Glaucoma 3, primary congenital, d | Enrichment | LTBP2 | 2.73 |
| 23 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.73 |
| 24 | Weill-marchesani syndrome 2 | Enrichment | FBN1 | 2.73 |
| 25 | Geleophysic dysplasia 2 | Enrichment | FBN1 | 2.73 |
| 26 | Protrusio acetabuli | Enrichment | FBN1 | 2.73 |
| 27 | Weill-marchesani syndrome 3 | Enrichment | LTBP2 | 2.73 |
| 28 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.73 |
| 29 | Macular degeneration, early-onset | Enrichment | FBN2 | 2.73 |
| 30 | Terminal osseous dysplasia | Enrichment | FLNA | 2.73 |
| 31 | Fg syndrome 2 | Enrichment | FLNA | 2.73 |
| 32 | Lymphoplasmacytic lymphoma | Enrichment | FBN1 | 2.73 |
| 33 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.73 |
| 34 | Otopalatodigital syndrome spectrum disorder | Enrichment | FLNA | 2.73 |
| 35 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.73 |
| 36 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.73 |
| 37 | Cutis laxa, autosomal recessive, type iie | Enrichment | LTBP1 | 2.73 |
| 38 | X-linked ehlers-danlos syndrome | Enrichment | FLNA | 2.73 |
| 39 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.73 |
| 40 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.73 |
| 41 | Glaucoma secondary to spherophakia/ectopia lentis and megalocornea | Enrichment | LTBP2 | 2.73 |
| 42 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.73 |
| 43 | Neonatal marfan syndrome | Enrichment | FBN1 | 2.73 |
| 44 | X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome | Enrichment | FLNA | 2.73 |
| 45 | Acromicric dysplasia | Enrichment | FBN1 | 2.43 |
| 46 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 2.43 |
| 47 | Myhre syndrome | Enrichment | SMAD4 | 2.43 |
| 48 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | FLNA | 2.43 |
| 49 | Stiff skin syndrome | Enrichment | FBN1 | 2.43 |
| 50 | Kyphomelic dysplasia | Enrichment | CCN2 | 2.43 |
| 51 | Otopalatodigital syndrome, type ii | Enrichment | FLNA | 2.43 |
| 52 | Melnick-needles syndrome | Enrichment | FLNA | 2.43 |
| 53 | Frontometaphyseal dysplasia 1 | Enrichment | FLNA | 2.43 |
| 54 | Pulmonary arteriovenous fistulas | Enrichment | ENG | 2.43 |
| 55 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.43 |
| 56 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 2.43 |
| 57 | Beaulieu-boycott-innes syndrome | Enrichment | FBN1 | 2.43 |
| 58 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.43 |
| 59 | Spondyloepimetaphyseal dysplasia, li-shao-li type | Enrichment | CCN2 | 2.43 |
| 60 | Cardiac valvular dysplasia, x-linked | Enrichment | FLNA | 2.43 |
| 61 | Aortic dissection | Enrichment | FBN1 | 2.43 |
| 62 | Marfanoid-progeroid-lipodystrophy syndrome | Enrichment | FBN1 | 2.43 |
| 63 | Lymphatic malformation 10 | Enrichment | ANGPT2 | 2.43 |
| 64 | Lens subluxation | Enrichment | FBN1 | 2.43 |
| 65 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 2.26 |
| 66 | Prune belly syndrome | Enrichment | FLNA | 2.26 |
| 67 | Achondroplasia | Enrichment | FBN1 | 2.26 |
| 68 | Mccune-albright syndrome | Enrichment | FBN1 | 2.26 |
| 69 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 2.26 |
| 70 | Exfoliation syndrome | Enrichment | LTBP2 | 2.26 |
| 71 | Arterial tortuosity syndrome | Enrichment | FLNA | 2.26 |
| 72 | Periventricular nodular heterotopia 1 | Enrichment | FLNA | 2.26 |
| 73 | Congenital short bowel syndrome | Enrichment | FLNA | 2.26 |
| 74 | Autosomal recessive cutis laxa type i | Enrichment | LTBP1 | 2.26 |
| 75 | Isolated ectopia lentis | Enrichment | FBN1 | 2.26 |
| 76 | Frontometaphyseal dysplasia | Enrichment | FLNA | 2.26 |
| 77 | Cleidocranial dysplasia | Enrichment | RUNX2 | 2.26 |
| 78 | Geleophysic dysplasia | Enrichment | FBN1 | 2.26 |
| 79 | Glaucoma 3, primary infantile, b | Enrichment | LTBP2 | 2.13 |
| 80 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.13 |
| 81 | Mitral valve insufficiency | Enrichment | FBN1 | 2.13 |
| 82 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1 | 2.13 |
| 83 | Polycystic liver disease 1 with or without kidney cysts | Enrichment | FBN1 | 2.04 |
| 84 | Arthrogryposis, renal dysfunction, and cholestasis 1 | Enrichment | FBN1 | 2.04 |
| 85 | Microcephaly 1, primary, autosomal recessive | Enrichment | ANGPT2 | 2.04 |
| 86 | Goldberg-shprintzen syndrome | Enrichment | FBN1 | 2.04 |
| 87 | Polycystic liver disease 1 | Enrichment | FBN1 | 2.04 |
| 88 | Juvenile glaucoma | Enrichment | LTBP2 | 2.04 |
| 89 | Diffuse cutaneous systemic sclerosis | Enrichment | CCN2 | 2.04 |
| 90 | Glaucoma, primary open angle | Enrichment | LTBP2 | 1.96 |
| 91 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | ENG | 1.96 |
| 92 | Renal tubular dysgenesis | Enrichment | AGTR1 | 1.96 |
| 93 | Inguinal hernia | Enrichment | FBN1 | 1.96 |
| 94 | Patent ductus arteriosus | Enrichment | FLNA | 1.96 |
| 95 | Limited scleroderma | Enrichment | CCN2 | 1.96 |
| 96 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.96 |
| 97 | Esophageal cancer | Enrichment | TGFBR2 | 1.89 |
| 98 | Glaucoma 3, primary congenital, a | Enrichment | LTBP2 | 1.89 |
| 99 | Brugada syndrome 1 | Enrichment | FBN1 | 1.89 |
| 100 | Gallbladder cancer | Enrichment | SMAD4 | 1.89 |
| 101 | Fanconi anemia, complementation group c | Enrichment | FLNA | 1.83 |
| 102 | Orthostatic intolerance | Enrichment | FBN1 | 1.83 |
| 103 | Stroke, ischemic | Enrichment | FBN1 | 1.74 |
| 104 | Melanoma | Enrichment | FBN1 | 1.74 |
| 105 | Heritable pulmonary arterial hypertension | Enrichment | ENG | 1.70 |
| 106 | Specific learning disability | Enrichment | MAPK1 | 1.70 |
| 107 | Diaphragmatic hernia, congenital | Enrichment | FBN1 | 1.63 |
| 108 | Pulmonary hypertension, primary, 1 | Enrichment | ENG | 1.63 |
| 109 | Periventricular nodular heterotopia | Enrichment | FLNA | 1.59 |
| 110 | Myopia | Enrichment | FBN1 | 1.56 |
| 111 | Lynch syndrome | Enrichment | TGFBR2 | 1.56 |
| 112 | Perrault syndrome 1 | Enrichment | FBN1 | 1.54 |
| 113 | Hypertension, essential | Enrichment | AGTR1 | 1.51 |
| 114 | Cleft palate, isolated | Enrichment | FLNA | 1.51 |
| 115 | Heart, malformation of | Enrichment | MAPK1 | 1.49 |
| 116 | Patent foramen ovale | Enrichment | FLNA | 1.49 |
| 117 | Arteriovenous malformations of the brain | Enrichment | ENG | 1.46 |
| 118 | Scoliosis | Enrichment | FBN1 | 1.36 |
| 119 | Pancreatic cancer | Enrichment | SMAD4 | 1.35 |
| 120 | Non-immune hydrops fetalis | Enrichment | ANGPT2 | 1.25 |
| 121 | Primary autosomal recessive microcephaly | Enrichment | ANGPT2 | 1.24 |
| 122 | Fetal akinesia deformation sequence 1 | Enrichment | FBN2 | 1.18 |
| 123 | Systemic lupus erythematosus | Enrichment | ENG | 1.16 |
| 124 | Myopathy | Enrichment | FBN1 | 1.15 |
| 125 | Gastric cancer | Enrichment | SMAD4 | 1.12 |
| 126 | Nephrotic syndrome | Enrichment | RUNX2 | 1.12 |
| 127 | Thrombocytopenia | Enrichment | SMAD4 | 1.07 |
| 128 | Breast cancer | Enrichment | SHC1 | 0.89 |
| 129 | Dilated cardiomyopathy | Enrichment | FBN1 | 0.86 |
| 130 | Colorectal cancer | Enrichment | SMAD4 | 0.83 |
| 131 | Microcephaly | Enrichment | MAPK1 | 0.69 |
| 132 | Inherited cancer-predisposing syndrome | Enrichment | SMAD4 | 0.66 |