| 1 | Dysfibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 7.66 |
| 2 | Familial dysfibrinogenemia | Enrichment | FGA, FGB, FGG | 7.66 |
| 3 | Familial hypofibrinogenemia | Enrichment | FGA, FGB, FGG | 7.66 |
| 4 | Afibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 7.06 |
| 5 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1, PDGFB | 5.09 |
| 6 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 5.09 |
| 7 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 5.09 |
| 8 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, TGFBR2 | 4.69 |
| 9 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGA2B, ITGB3 | 4.62 |
| 10 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 4.62 |
| 11 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 4.32 |
| 12 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 4.32 |
| 13 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2 | 3.92 |
| 14 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 3.92 |
| 15 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2B, ITGB3 | 3.92 |
| 16 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 3.92 |
| 17 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 3.78 |
| 18 | Glanzmann thrombasthenia 1 | Enrichment | ITGA2B, ITGB3 | 3.78 |
| 19 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 3.65 |
| 20 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, FBN1, TGFBR2 | 3.57 |
| 21 | Loeys-dietz syndrome | Enrichment | FBN1, TGFBR2 | 3.54 |
| 22 | Thrombocytopenia | Enrichment | FGG, ITGA2B, ITGB3 | 3.46 |
| 23 | Marfan syndrome | Enrichment | FBN1, TGFBR2 | 3.45 |
| 24 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGA2B, ITGB3 | 3.45 |
| 25 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 3.45 |
| 26 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 3.36 |
| 27 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 3.21 |
| 28 | Osteoporosis | Enrichment | COL1A1, COL1A2 | 3.14 |
| 29 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 3.08 |
| 30 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 2.71 |
| 31 | Corneal dystrophy, epithelial basement membrane | Enrichment | TGFBI | 2.54 |
| 32 | Corneal dystrophy, groenouw type i | Enrichment | TGFBI | 2.54 |
| 33 | Ectopia lentis 1, isolated, autosomal dominant | Enrichment | FBN1 | 2.54 |
| 34 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.54 |
| 35 | Hydrocephalus due to congenital stenosis of aqueduct of sylvius | Enrichment | L1CAM | 2.54 |
| 36 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.54 |
| 37 | Corneal dystrophy, avellino type | Enrichment | TGFBI | 2.54 |
| 38 | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | Enrichment | HMGB1 | 2.54 |
| 39 | Cardiomyopathy, dilated, 1jj | Enrichment | LAMA4 | 2.54 |
| 40 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.54 |
| 41 | Corneal dystrophy, lattice type i | Enrichment | TGFBI | 2.54 |
| 42 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.54 |
| 43 | Lissencephaly 5 | Enrichment | LAMB1 | 2.54 |
| 44 | Weill-marchesani syndrome 2 | Enrichment | FBN1 | 2.54 |
| 45 | Deafness, autosomal dominant 56 | Enrichment | TNC | 2.54 |
| 46 | Geleophysic dysplasia 2 | Enrichment | FBN1 | 2.54 |
| 47 | Protrusio acetabuli | Enrichment | FBN1 | 2.54 |
| 48 | Corneal dystrophy, thiel-behnke type | Enrichment | TGFBI | 2.54 |
| 49 | Corpus callosum, partial agenesis of, x-linked | Enrichment | L1CAM | 2.54 |
| 50 | Hydrocephalus, congenital, x-linked | Enrichment | L1CAM | 2.54 |
| 51 | Fetomaternal alloimmune thrombocytopenia 2 | Enrichment | ITGA2B | 2.54 |
| 52 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.54 |
| 53 | Lymphoplasmacytic lymphoma | Enrichment | FBN1 | 2.54 |
| 54 | Masa syndrome | Enrichment | L1CAM | 2.54 |
| 55 | Epithelial-stromal tgfbi dystrophy | Enrichment | TGFBI | 2.54 |
| 56 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.54 |
| 57 | Corneal dystrophy, lattice type iiia | Enrichment | TGFBI | 2.54 |
| 58 | Corneal dystrophy, reis-bucklers type | Enrichment | TGFBI | 2.54 |
| 59 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.54 |
| 60 | Granular corneal dystrophy | Enrichment | TGFBI | 2.54 |
| 61 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.54 |
| 62 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.54 |
| 63 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.54 |
| 64 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.54 |
| 65 | Tufted angioma of skin | Enrichment | KDR | 2.54 |
| 66 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.54 |
| 67 | Epithelial basement membrane dystrophy | Enrichment | TGFBI | 2.54 |
| 68 | Congenital fibrinogen deficiency | Enrichment | FGG | 2.54 |
| 69 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.54 |
| 70 | X-linked complicated spastic paraplegia type 1 | Enrichment | L1CAM | 2.54 |
| 71 | Neonatal marfan syndrome | Enrichment | FBN1 | 2.54 |
| 72 | Connective tissue disease | Enrichment | FBN1, TGFBR2 | 2.42 |
| 73 | Acromicric dysplasia | Enrichment | FBN1 | 2.24 |
| 74 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.24 |
| 75 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.24 |
| 76 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 2.24 |
| 77 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 2.24 |
| 78 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.24 |
| 79 | Stiff skin syndrome | Enrichment | FBN1 | 2.24 |
| 80 | Quebec platelet disorder | Enrichment | PLAU | 2.24 |
| 81 | Loeys-dietz syndrome 2 | Enrichment | TGFBR2 | 2.24 |
| 82 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 2.24 |
| 83 | Lissencephaly 1 | Enrichment | LAMB1 | 2.24 |
| 84 | Beaulieu-boycott-innes syndrome | Enrichment | FBN1 | 2.24 |
| 85 | Angioma, tufted | Enrichment | KDR | 2.24 |
| 86 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.24 |
| 87 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.24 |
| 88 | Aortic dissection | Enrichment | FBN1 | 2.24 |
| 89 | Marfanoid-progeroid-lipodystrophy syndrome | Enrichment | FBN1 | 2.24 |
| 90 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.24 |
| 91 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.24 |
| 92 | Lens subluxation | Enrichment | FBN1 | 2.24 |
| 93 | Nephrotic syndrome | Enrichment | COL4A3, FN1 | 2.17 |
| 94 | Contractural arachnodactyly, congenital | Enrichment | FBN1 | 2.07 |
| 95 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 2.07 |
| 96 | Achondroplasia | Enrichment | FBN1 | 2.07 |
| 97 | Mccune-albright syndrome | Enrichment | FBN1 | 2.07 |
| 98 | Hematuria, benign familial, 1 | Enrichment | COL4A3 | 2.07 |
| 99 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 2.07 |
| 100 | Caffey disease | Enrichment | COL1A1 | 2.07 |
| 101 | Pilarowski-bjornsson syndrome | Enrichment | COL4A3 | 2.07 |
| 102 | Alport syndrome 3b, autosomal recessive | Enrichment | COL4A3 | 2.07 |
| 103 | Weill-marchesani syndrome 1 | Enrichment | FBN1 | 2.07 |
| 104 | Isolated ectopia lentis | Enrichment | FBN1 | 2.07 |
| 105 | Loeys-dietz syndrome 1 | Enrichment | TGFBR2 | 2.07 |
| 106 | Hematuria, benign familial, 2 | Enrichment | COL4A3 | 2.07 |
| 107 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 2.07 |
| 108 | Geleophysic dysplasia | Enrichment | FBN1 | 2.07 |
| 109 | Digenic alport syndrome | Enrichment | COL4A3 | 2.07 |
| 110 | Alport syndrome 2, autosomal recessive | Enrichment | COL4A3 | 1.94 |
| 111 | Phenylketonuria | Enrichment | COL1A1 | 1.94 |
| 112 | Weill-marchesani syndrome | Enrichment | FBN1 | 1.94 |
| 113 | Aortic aneurysm | Enrichment | FBN1 | 1.94 |
| 114 | Corneal dystrophy | Enrichment | TGFBI | 1.94 |
| 115 | Autosomal recessive alport syndrome | Enrichment | COL4A3 | 1.94 |
| 116 | Mitral valve insufficiency | Enrichment | FBN1 | 1.94 |
| 117 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 1.94 |
| 118 | Primary ovarian insufficiency | Enrichment | KDR, THBS1 | 1.91 |
| 119 | Alport syndrome 3a, autosomal dominant | Enrichment | COL4A3 | 1.84 |
| 120 | Polycystic liver disease 1 with or without kidney cysts | Enrichment | FBN1 | 1.84 |
| 121 | Alzheimer disease 2 | Enrichment | PLAU | 1.84 |
| 122 | Amyloidosis, hereditary systemic 2 | Enrichment | FGA | 1.84 |
| 123 | Arthrogryposis, renal dysfunction, and cholestasis 1 | Enrichment | FBN1 | 1.84 |
| 124 | Goldberg-shprintzen syndrome | Enrichment | FBN1 | 1.84 |
| 125 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.84 |
| 126 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | L1CAM | 1.84 |
| 127 | Autosomal dominant alport syndrome | Enrichment | COL4A3 | 1.84 |
| 128 | Polycystic liver disease 1 | Enrichment | FBN1 | 1.84 |
| 129 | Alport syndrome | Enrichment | COL4A3 | 1.84 |
| 130 | Primary hypereosinophilic syndrome | Enrichment | PDGFRB | 1.84 |
| 131 | Hemangioma, capillary infantile | Enrichment | KDR | 1.77 |
| 132 | Inguinal hernia | Enrichment | FBN1 | 1.77 |
| 133 | Keratoconus | Enrichment | COL1A1 | 1.77 |
| 134 | Esophageal cancer | Enrichment | TGFBR2 | 1.70 |
| 135 | Thrombophilia due to thrombin defect | Enrichment | FGA | 1.70 |
| 136 | Brugada syndrome 1 | Enrichment | FBN1 | 1.70 |
| 137 | Spastic paraplegia 4, autosomal dominant | Enrichment | FGG | 1.64 |
| 138 | Orthostatic intolerance | Enrichment | FBN1 | 1.64 |
| 139 | Familial thoracic aortic aneurysm and dissection | Enrichment | FBN1 | 1.59 |
| 140 | Hydrops fetalis | Enrichment | L1CAM | 1.59 |
| 141 | Stroke, ischemic | Enrichment | FBN1 | 1.55 |
| 142 | Melanoma | Enrichment | FBN1 | 1.55 |
| 143 | Pectus excavatum | Enrichment | FBN1 | 1.51 |
| 144 | Meningioma, familial | Enrichment | PDGFB | 1.51 |
| 145 | Meningioma | Enrichment | PDGFB | 1.47 |
| 146 | Diaphragmatic hernia, congenital | Enrichment | FBN1 | 1.43 |
| 147 | Multiple sclerosis | Enrichment | LAMB1 | 1.40 |
| 148 | Aortic aneurysm, familial thoracic 1 | Enrichment | FBN1 | 1.40 |
| 149 | Hydrocephalus | Enrichment | PDGFRB | 1.37 |
| 150 | Myopia | Enrichment | FBN1 | 1.37 |
| 151 | Lynch syndrome | Enrichment | TGFBR2 | 1.37 |
| 152 | Kidney disease | Enrichment | COL4A3 | 1.37 |
| 153 | Perrault syndrome 1 | Enrichment | FBN1 | 1.35 |
| 154 | Alzheimer disease, familial, 1 | Enrichment | PLAU | 1.32 |
| 155 | Dandy-walker syndrome | Enrichment | PDGFRB | 1.32 |
| 156 | Myocardial infarction | Enrichment | ITGB3 | 1.21 |
| 157 | Scoliosis | Enrichment | FBN1 | 1.18 |
| 158 | Tetralogy of fallot | Enrichment | KDR | 1.14 |
| 159 | Severe covid-19 | Enrichment | ITGAV | 1.10 |
| 160 | Genetic steroid-resistant nephrotic syndrome | Enrichment | COL4A3 | 1.03 |
| 161 | Systemic lupus erythematosus | Enrichment | SPP1 | 0.97 |
| 162 | Cerebral palsy | Enrichment | PDGFRB | 0.97 |
| 163 | Myopathy | Enrichment | FBN1 | 0.96 |
| 164 | Hypertelorism | Enrichment | COL1A1 | 0.86 |
| 165 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | TNC | 0.86 |
| 166 | Familial isolated dilated cardiomyopathy | Enrichment | LAMA4 | 0.85 |
| 167 | Dilated cardiomyopathy | Enrichment | FBN1 | 0.69 |