| 1 | Thrombocytopenia | Enrichment | FGG, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MPL, SRC, THPO, VWF | 16.00 |
| 2 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | GP1BA, GP1BB, ITGA2B, ITGB3 | 9.05 |
| 3 | Dysfibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 8.96 |
| 4 | Familial dysfibrinogenemia | Enrichment | FGA, FGB, FGG | 8.96 |
| 5 | Familial hypofibrinogenemia | Enrichment | FGA, FGB, FGG | 8.96 |
| 6 | Afibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 8.36 |
| 7 | Autosomal dominant macrothrombocytopenia | Enrichment | GP1BA, GP1BB, ITGA2B, ITGB3 | 7.92 |
| 8 | Bernard-soulier syndrome | Enrichment | GP1BA, GP1BB, GP9 | 6.66 |
| 9 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGA2B, ITGB3 | 5.47 |
| 10 | Osteoporosis | Enrichment | COL1A1, COL1A2, SRC | 5.11 |
| 11 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 5.09 |
| 12 | Congenital amegakaryocytic thrombocytopenia | Enrichment | MPL, THPO | 5.09 |
| 13 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 5.09 |
| 14 | Glanzmann thrombasthenia 1 | Enrichment | ITGA2B, ITGB3 | 4.62 |
| 15 | Dyskeratosis congenita, autosomal dominant 6 | Enrichment | MPL, THPO | 4.62 |
| 16 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 4.62 |
| 17 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 4.32 |
| 18 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 4.32 |
| 19 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2 | 3.92 |
| 20 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 3.92 |
| 21 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 3.92 |
| 22 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 3.78 |
| 23 | Thrombophilia due to thrombin defect | Enrichment | F2, FGA | 3.78 |
| 24 | Myelofibrosis | Enrichment | MPL, SRC | 3.78 |
| 25 | Essential thrombocythemia | Enrichment | MPL, THPO | 3.78 |
| 26 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 3.45 |
| 27 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 3.36 |
| 28 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 3.21 |
| 29 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 3.08 |
| 30 | Von willebrand disease, type 1 | Enrichment | VWF | 2.96 |
| 31 | Von willebrand disease, type 2 | Enrichment | VWF | 2.96 |
| 32 | Von willebrand disease, type 3 | Enrichment | VWF | 2.96 |
| 33 | Fetomaternal alloimmune thrombocytopenia 2 | Enrichment | ITGA2B | 2.96 |
| 34 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 2.96 |
| 35 | Thrombocytopenia 6 | Enrichment | SRC | 2.96 |
| 36 | Von willebrand's disease | Enrichment | VWF | 2.96 |
| 37 | Congenital fibrinogen deficiency | Enrichment | FGG | 2.96 |
| 38 | Capillary leak syndrome | Enrichment | TLN1 | 2.96 |
| 39 | Noonan syndrome 4 | Enrichment | SOS1 | 2.96 |
| 40 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 2.87 |
| 41 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 2.71 |
| 42 | Proteus syndrome | Enrichment | AKT1 | 2.70 |
| 43 | Bleeding disorder, platelet-type, 18 | Enrichment | RASGRP2 | 2.70 |
| 44 | Immunodeficiency 64 with lymphoproliferation | Enrichment | RASGRP1 | 2.70 |
| 45 | Immunodeficiency 82 with systemic inflammation | Enrichment | SYK | 2.70 |
| 46 | Cowden syndrome 6 | Enrichment | AKT1 | 2.70 |
| 47 | Colitis | Enrichment | SYK | 2.70 |
| 48 | Immunodeficiency 64 | Enrichment | RASGRP1 | 2.70 |
| 49 | Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency | Enrichment | RASGRP1 | 2.70 |
| 50 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 2.66 |
| 51 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 2.66 |
| 52 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.66 |
| 53 | Pulmonic stenosis | Enrichment | SOS1 | 2.66 |
| 54 | Bernard-soulier syndrome, type a2, autosomal dominant | Enrichment | GP1BA | 2.54 |
| 55 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.54 |
| 56 | Nonarteritic anterior ischemic optic neuropathy | Enrichment | GP1BA | 2.54 |
| 57 | Thrombocythemia 2 | Enrichment | MPL | 2.54 |
| 58 | Von willebrand disease, platelet-type | Enrichment | GP1BA | 2.54 |
| 59 | Prothrombin deficiency, congenital | Enrichment | F2 | 2.54 |
| 60 | Amegakaryocytic thrombocytopenia, congenital, 1 | Enrichment | MPL | 2.54 |
| 61 | Amegakaryocytic thrombocytopenia, congenital, 2 | Enrichment | THPO | 2.54 |
| 62 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.54 |
| 63 | Hereditary thrombocytosis with transverse limb defect | Enrichment | THPO | 2.54 |
| 64 | Pregnancy loss, recurrent 2 | Enrichment | F2 | 2.54 |
| 65 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.54 |
| 66 | Thrombocytopenia 9 | Enrichment | THPO | 2.54 |
| 67 | Bernard-soulier syndrome type a2 | Enrichment | GP1BA | 2.54 |
| 68 | Lipodystrophy, familial partial, type 8 | Enrichment | ADRA2A | 2.54 |
| 69 | Prothrombin deficiency | Enrichment | F2 | 2.54 |
| 70 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 2.48 |
| 71 | Periventricular nodular heterotopia 1 | Enrichment | VWF | 2.48 |
| 72 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 2.48 |
| 73 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 2.48 |
| 74 | Nuchal bleb, familial | Enrichment | SOS1 | 2.48 |
| 75 | Arthritis | Enrichment | SYK | 2.40 |
| 76 | Gingival fibromatosis | Enrichment | SOS1 | 2.35 |
| 77 | Amyloidosis, hereditary systemic 2 | Enrichment | FGA | 2.26 |
| 78 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 2.26 |
| 79 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.24 |
| 80 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.24 |
| 81 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.24 |
| 82 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.24 |
| 83 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.24 |
| 84 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.24 |
| 85 | Noonan syndrome 3 | Enrichment | SOS1 | 2.11 |
| 86 | Thrombocythemia 1 | Enrichment | THPO | 2.07 |
| 87 | Caffey disease | Enrichment | COL1A1 | 2.07 |
| 88 | Cerebral sinovenous thrombosis | Enrichment | F2 | 2.07 |
| 89 | Spastic paraplegia 4, autosomal dominant | Enrichment | FGG | 2.05 |
| 90 | Breast cancer | Enrichment | AKT1, SHC1 | 2.01 |
| 91 | Phenylketonuria | Enrichment | COL1A1 | 1.94 |
| 92 | Breast adenocarcinoma | Enrichment | AKT1 | 1.92 |
| 93 | Colorectal cancer | Enrichment | AKT1, SRC | 1.89 |
| 94 | Aortic valve disease 1 | Enrichment | SOS1 | 1.85 |
| 95 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.81 |
| 96 | Noonan syndrome and noonan-related syndrome | Enrichment | SOS1 | 1.78 |
| 97 | Familial adult myoclonic epilepsy | Enrichment | ADRA2B | 1.77 |
| 98 | Keratoconus | Enrichment | COL1A1 | 1.77 |
| 99 | Cowden syndrome | Enrichment | AKT1 | 1.75 |
| 100 | Immune deficiency disease | Enrichment | SYK | 1.66 |
| 101 | Meningioma | Enrichment | AKT1 | 1.63 |
| 102 | Myocardial infarction | Enrichment | ITGB3 | 1.62 |
| 103 | Noonan syndrome 1 | Enrichment | SOS1 | 1.60 |
| 104 | Rasopathy | Enrichment | SOS1 | 1.55 |
| 105 | Stroke, ischemic | Enrichment | F2 | 1.55 |
| 106 | Digeorge syndrome | Enrichment | GP1BB | 1.47 |
| 107 | Nephrotic syndrome | Enrichment | FN1 | 1.33 |
| 108 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1 | 1.23 |
| 109 | Type 2 diabetes mellitus | Enrichment | PTPN1 | 1.09 |
| 110 | Hereditary breast carcinoma | Enrichment | AKT1 | 1.08 |
| 111 | Cerebral palsy | Enrichment | F2 | 0.97 |
| 112 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1 | 0.92 |
| 113 | Hypertelorism | Enrichment | COL1A1 | 0.86 |
| 114 | Ovarian cancer | Enrichment | AKT1 | 0.74 |