| 1 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2, COL1A1, SMAD3, SMAD4, TGFBR1, TGFBR2 | 9.56 |
| 2 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, SMAD3, TGFBR2 | 7.26 |
| 3 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, TGFBR1 | 6.80 |
| 4 | Loeys-dietz syndrome | Enrichment | SMAD3, TGFBR1, TGFBR2 | 6.18 |
| 5 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 5.39 |
| 6 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 5.39 |
| 7 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 5.39 |
| 8 | Loeys-dietz syndrome 1 | Enrichment | TGFBR1, TGFBR2 | 4.91 |
| 9 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 4.91 |
| 10 | Noonan syndrome 1 | Enrichment | PTPN11, RAF1, RRAS | 4.87 |
| 11 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 4.61 |
| 12 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 4.61 |
| 13 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11, RAF1 | 4.61 |
| 14 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 4.61 |
| 15 | Connective tissue disease | Enrichment | ACTA2, SMAD3, TGFBR2 | 4.43 |
| 16 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2 | 4.21 |
| 17 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 4.21 |
| 18 | Renal tubular dysgenesis | Enrichment | AGT, AGTR1 | 4.21 |
| 19 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 4.07 |
| 20 | Noonan syndrome 3 | Enrichment | PTPN11, RAF1 | 4.07 |
| 21 | Marfan syndrome | Enrichment | TGFBR1, TGFBR2 | 3.74 |
| 22 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 3.74 |
| 23 | Pectus excavatum | Enrichment | PTPN11, TGFBR1 | 3.65 |
| 24 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 3.65 |
| 25 | Specific learning disability | Enrichment | MAPK1, PTPN11 | 3.65 |
| 26 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11, RRAS | 3.57 |
| 27 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 3.50 |
| 28 | Osteoporosis | Enrichment | COL1A1, COL1A2 | 3.43 |
| 29 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 3.37 |
| 30 | Noonan syndrome and noonan-related syndrome | Enrichment | PTPN11, RAF1 | 3.37 |
| 31 | Hypertension, essential | Enrichment | AGT, AGTR1 | 3.26 |
| 32 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 2.99 |
| 33 | Rasopathy | Enrichment | PTPN11, RAF1 | 2.89 |
| 34 | Metachondromatosis | Enrichment | PTPN11 | 2.69 |
| 35 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.69 |
| 36 | Noonan syndrome 5 | Enrichment | RAF1 | 2.69 |
| 37 | Angioedema, hereditary, 3 | Enrichment | F12 | 2.69 |
| 38 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.69 |
| 39 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.69 |
| 40 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.69 |
| 41 | Craniosynostosis and dental anomalies | Enrichment | IL11RA | 2.69 |
| 42 | Stuve-wiedemann syndrome 2 | Enrichment | IL6ST | 2.69 |
| 43 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.69 |
| 44 | Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections | Enrichment | IL6ST | 2.69 |
| 45 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.69 |
| 46 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.69 |
| 47 | Leopard syndrome 2 | Enrichment | RAF1 | 2.69 |
| 48 | Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections | Enrichment | IL6ST | 2.69 |
| 49 | Immunodeficiency 94 with autoinflammation and dysmorphic facies | Enrichment | IL6ST | 2.69 |
| 50 | Trigonitis | Enrichment | RAF1 | 2.69 |
| 51 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.69 |
| 52 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.69 |
| 53 | Urticaria | Enrichment | F12 | 2.69 |
| 54 | F12-associated cold autoinflammatory syndrome | Enrichment | F12 | 2.69 |
| 55 | Malignant astrocytoma | Enrichment | PTPN11 | 2.69 |
| 56 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.38 |
| 57 | Myhre syndrome | Enrichment | SMAD4 | 2.38 |
| 58 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.38 |
| 59 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.38 |
| 60 | Kyphomelic dysplasia | Enrichment | CCN2 | 2.38 |
| 61 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.38 |
| 62 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 2.38 |
| 63 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.38 |
| 64 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 2.38 |
| 65 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 2.38 |
| 66 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 2.38 |
| 67 | Factor xii deficiency | Enrichment | F12 | 2.38 |
| 68 | Moyamoya disease 5 | Enrichment | ACTA2 | 2.38 |
| 69 | Albinism, oculocutaneous, type ia | Enrichment | NOX4 | 2.38 |
| 70 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.38 |
| 71 | Spondyloepimetaphyseal dysplasia, li-shao-li type | Enrichment | CCN2 | 2.38 |
| 72 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.38 |
| 73 | Werner syndrome | Enrichment | PTPN11 | 2.38 |
| 74 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.38 |
| 75 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.38 |
| 76 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.38 |
| 77 | Hereditary angioedema | Enrichment | F12 | 2.38 |
| 78 | Angioedema | Enrichment | F12 | 2.38 |
| 79 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.38 |
| 80 | Thrombocytopenia | Enrichment | PTPN11, SMAD4 | 2.36 |
| 81 | Angioedema, hereditary, 1 | Enrichment | F12 | 2.21 |
| 82 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 2.21 |
| 83 | Stuve-wiedemann syndrome 1 | Enrichment | IL6ST | 2.21 |
| 84 | Caffey disease | Enrichment | COL1A1 | 2.21 |
| 85 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.21 |
| 86 | Enchondromatosis | Enrichment | HIF1A | 2.21 |
| 87 | Stüve-wiedemann syndrome | Enrichment | IL6ST | 2.21 |
| 88 | Phenylketonuria | Enrichment | COL1A1 | 2.08 |
| 89 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 2.08 |
| 90 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.08 |
| 91 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 2.08 |
| 92 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.99 |
| 93 | Lymphoma | Enrichment | PTPN11 | 1.99 |
| 94 | Diffuse cutaneous systemic sclerosis | Enrichment | CCN2 | 1.99 |
| 95 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.99 |
| 96 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.91 |
| 97 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.91 |
| 98 | Keratoconus | Enrichment | COL1A1 | 1.91 |
| 99 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.91 |
| 100 | Limited scleroderma | Enrichment | CCN2 | 1.91 |
| 101 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.91 |
| 102 | Esophageal cancer | Enrichment | TGFBR2 | 1.84 |
| 103 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.84 |
| 104 | Gallbladder cancer | Enrichment | SMAD4 | 1.84 |
| 105 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.84 |
| 106 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.84 |
| 107 | Melanocytic nevus syndrome, congenital | Enrichment | RAF1 | 1.79 |
| 108 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.73 |
| 109 | Bilirubin metabolic disorder | Enrichment | F12 | 1.65 |
| 110 | Epicanthus | Enrichment | PTPN11 | 1.61 |
| 111 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.61 |
| 112 | Microcephaly | Enrichment | MAPK1, PTPN11 | 1.58 |
| 113 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.54 |
| 114 | Lung cancer susceptibility 3 | Enrichment | ACTA2 | 1.54 |
| 115 | Inherited cancer-predisposing syndrome | Enrichment | PTPN11, SMAD4 | 1.52 |
| 116 | Lynch syndrome | Enrichment | TGFBR2 | 1.52 |
| 117 | Hypertension | Enrichment | F12 | 1.49 |
| 118 | Heart, malformation of | Enrichment | MAPK1 | 1.44 |
| 119 | Patent foramen ovale | Enrichment | PTPN11 | 1.44 |
| 120 | Craniosynostosis | Enrichment | IL11RA | 1.39 |
| 121 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.31 |
| 122 | Scoliosis | Enrichment | PTPN11 | 1.31 |
| 123 | Pancreatic cancer | Enrichment | SMAD4 | 1.30 |
| 124 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 1.28 |
| 125 | Strabismus | Enrichment | PTPN11 | 1.27 |
| 126 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.22 |
| 127 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 1.21 |
| 128 | Lung cancer | Enrichment | ACTA2 | 1.19 |
| 129 | Cystic fibrosis | Enrichment | TGFB1 | 1.19 |
| 130 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.18 |
| 131 | Left ventricular noncompaction | Enrichment | RAF1 | 1.16 |
| 132 | Gastric cancer | Enrichment | SMAD4 | 1.07 |
| 133 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 1.07 |
| 134 | Hypertelorism | Enrichment | COL1A1 | 0.99 |
| 135 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.98 |
| 136 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.96 |
| 137 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.82 |
| 138 | Colorectal cancer | Enrichment | SMAD4 | 0.78 |
| 139 | Autism spectrum disorder | Enrichment | PTPN11 | 0.69 |