| 1 | Thrombocytopenia | Enrichment | FGG, GP1BB, GP9, ITGA2B, ITGB3, P2RY12, VWF | 9.34 |
| 2 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | GP1BB, ITGA2, ITGA2B, ITGB3 | 8.58 |
| 3 | Dysfibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 7.30 |
| 4 | Familial dysfibrinogenemia | Enrichment | FGA, FGB, FGG | 7.30 |
| 5 | Familial hypofibrinogenemia | Enrichment | FGA, FGB, FGG | 7.30 |
| 6 | Afibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 6.70 |
| 7 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1, FGG, GNAS | 5.56 |
| 8 | Autosomal dominant macrothrombocytopenia | Enrichment | GP1BB, ITGA2B, ITGB3 | 5.23 |
| 9 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 4.86 |
| 10 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 4.86 |
| 11 | Phakomatosis cesioflammea | Enrichment | GNA11, GNAQ | 4.86 |
| 12 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGA2B, ITGB3 | 4.38 |
| 13 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 4.38 |
| 14 | Anastomosing haemangioma | Enrichment | GNA11, GNAQ | 4.38 |
| 15 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, COL3A1 | 4.33 |
| 16 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 4.08 |
| 17 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1, COL4A2 | 4.08 |
| 18 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 4.08 |
| 19 | Capillary malformations, congenital | Enrichment | GNA11, GNAQ | 3.86 |
| 20 | Bernard-soulier syndrome | Enrichment | GP1BB, GP9 | 3.86 |
| 21 | Familial porencephaly | Enrichment | COL4A1, COL4A2 | 3.86 |
| 22 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2 | 3.69 |
| 23 | Melanoma, uveal | Enrichment | GNA11, GNAQ | 3.69 |
| 24 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 3.69 |
| 25 | Hemorrhage, intracerebral | Enrichment | COL4A1, COL4A2 | 3.69 |
| 26 | Keratoconus | Enrichment | COL1A1, COL4A1 | 3.69 |
| 27 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 3.69 |
| 28 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 3.54 |
| 29 | Thrombophilia due to thrombin defect | Enrichment | F2, FGA | 3.54 |
| 30 | Glanzmann thrombasthenia 1 | Enrichment | ITGA2B, ITGB3 | 3.54 |
| 31 | Cerebral palsy | Enrichment | COL4A1, COL4A2, F2 | 3.38 |
| 32 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 3.21 |
| 33 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 3.13 |
| 34 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 2.98 |
| 35 | Osteoporosis | Enrichment | COL1A1, COL1A2 | 2.91 |
| 36 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 2.85 |
| 37 | Hypertension, essential | Enrichment | CYP3A5, GNB3 | 2.74 |
| 38 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 2.48 |
| 39 | Hypocalciuric hypercalcemia, familial, type ii | Enrichment | GNA11 | 2.42 |
| 40 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.42 |
| 41 | Von willebrand disease, type 1 | Enrichment | VWF | 2.42 |
| 42 | Drug metabolism, poor, cyp2c19-related | Enrichment | CYP2C19 | 2.42 |
| 43 | Asthma-related traits 1 | Enrichment | PTGDR | 2.42 |
| 44 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.42 |
| 45 | Coronary heart disease 7 | Enrichment | CD36 | 2.42 |
| 46 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.42 |
| 47 | Prothrombin deficiency, congenital | Enrichment | F2 | 2.42 |
| 48 | Von willebrand disease, type 2 | Enrichment | VWF | 2.42 |
| 49 | Ghosal hematodiaphyseal dysplasia | Enrichment | TBXAS1 | 2.42 |
| 50 | Bleeding disorder, platelet-type, 11 | Enrichment | GP6 | 2.42 |
| 51 | Sturge-weber syndrome | Enrichment | GNAQ | 2.42 |
| 52 | Ventricular tachycardia, familial | Enrichment | GNAI2 | 2.42 |
| 53 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.42 |
| 54 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.42 |
| 55 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.42 |
| 56 | Von willebrand disease, type 3 | Enrichment | VWF | 2.42 |
| 57 | Fetomaternal alloimmune thrombocytopenia 2 | Enrichment | ITGA2B | 2.42 |
| 58 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.42 |
| 59 | Bleeding disorder, platelet-type, 13 | Enrichment | TBXA2R | 2.42 |
| 60 | Porencephaly | Enrichment | COL4A1 | 2.42 |
| 61 | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | Enrichment | GNAI1 | 2.42 |
| 62 | Platelet glycoprotein iv deficiency | Enrichment | CD36 | 2.42 |
| 63 | Efavirenz, poor metabolism of | Enrichment | CYP2B6 | 2.42 |
| 64 | Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder | Enrichment | PLA2G4A | 2.42 |
| 65 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.42 |
| 66 | Hypocalcemia, autosomal dominant 2 | Enrichment | GNA11 | 2.42 |
| 67 | Disorders of gnas inactivation | Enrichment | GNAS | 2.42 |
| 68 | Pregnancy loss, recurrent 2 | Enrichment | F2 | 2.42 |
| 69 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.42 |
| 70 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets | Enrichment | PLA2G4A | 2.42 |
| 71 | Vitamin d-dependent rickets, type 3 | Enrichment | CYP3A4 | 2.42 |
| 72 | Von willebrand's disease | Enrichment | VWF | 2.42 |
| 73 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.42 |
| 74 | Col4a1-related disorders | Enrichment | COL4A1 | 2.42 |
| 75 | Congenital fibrinogen deficiency | Enrichment | FGG | 2.42 |
| 76 | Prothrombin deficiency | Enrichment | F2 | 2.42 |
| 77 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 2.42 |
| 78 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 2.42 |
| 79 | Bleeding diathesis due to thromboxane synthesis deficiency | Enrichment | TBXA2R | 2.42 |
| 80 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.42 |
| 81 | Cryptogenic multifocal ulcerous stenosing enteritis | Enrichment | PLA2G4A | 2.42 |
| 82 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.42 |
| 83 | Phakomatosis cesiomarmorata | Enrichment | GNA11 | 2.42 |
| 84 | Mazabraud syndrome | Enrichment | GNAS | 2.42 |
| 85 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 2.12 |
| 86 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.12 |
| 87 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 2.12 |
| 88 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 2.12 |
| 89 | Pituitary adenoma 4, acth-secreting | Enrichment | GNAI2 | 2.12 |
| 90 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.12 |
| 91 | Cutis marmorata telangiectatica congenita | Enrichment | GNA11 | 2.12 |
| 92 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.12 |
| 93 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS | 2.12 |
| 94 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 2.12 |
| 95 | Bleeding disorder, platelet-type, 8 | Enrichment | P2RY12 | 2.12 |
| 96 | Night blindness, congenital stationary, type 1h | Enrichment | GNB3 | 2.12 |
| 97 | Bleeding disorder, platelet-type, 14 | Enrichment | TBXAS1 | 2.12 |
| 98 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | Enrichment | COL4A2 | 2.12 |
| 99 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.12 |
| 100 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 2.12 |
| 101 | Aortic dissection | Enrichment | COL3A1 | 2.12 |
| 102 | Autosomal dominant hypocalcemia | Enrichment | GNA11 | 2.12 |
| 103 | Pseudohypoparathyroidism | Enrichment | GNAS | 2.12 |
| 104 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.12 |
| 105 | Body mass index quantitative trait locus 19 | Enrichment | ADCY3 | 2.12 |
| 106 | Hypopituitarism | Enrichment | GNAI2 | 2.12 |
| 107 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 2.12 |
| 108 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.12 |
| 109 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.95 |
| 110 | Mccune-albright syndrome | Enrichment | GNAS | 1.95 |
| 111 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 1.95 |
| 112 | Asthma, nasal polyps, and aspirin intolerance | Enrichment | PTGER2 | 1.95 |
| 113 | Periventricular nodular heterotopia 1 | Enrichment | VWF | 1.95 |
| 114 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | GNA11 | 1.95 |
| 115 | Coumarin resistance | Enrichment | CYP2C9 | 1.95 |
| 116 | Caffey disease | Enrichment | COL1A1 | 1.95 |
| 117 | Brain small vessel disease 2 | Enrichment | COL4A2 | 1.95 |
| 118 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 1.95 |
| 119 | Nizon-isidor syndrome | Enrichment | P2RY12 | 1.95 |
| 120 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 1.95 |
| 121 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 1.95 |
| 122 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.95 |
| 123 | Cerebral sinovenous thrombosis | Enrichment | F2 | 1.95 |
| 124 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, COL3A1 | 1.93 |
| 125 | Phenylketonuria | Enrichment | COL1A1 | 1.83 |
| 126 | Schizencephaly | Enrichment | COL4A1 | 1.83 |
| 127 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.83 |
| 128 | Auriculocondylar syndrome 1 | Enrichment | GNAI3 | 1.83 |
| 129 | Developmental and epileptic encephalopathy 12 | Enrichment | PLCB1 | 1.83 |
| 130 | Achromatopsia 4 | Enrichment | GNAI3 | 1.83 |
| 131 | Blood platelet disease | Enrichment | CD36 | 1.83 |
| 132 | Cerebral malaria | Enrichment | CD36 | 1.83 |
| 133 | Body mass index quantitative trait locus 11 | Enrichment | ADCY3, GNAS | 1.82 |
| 134 | Amyloidosis, hereditary systemic 2 | Enrichment | FGA | 1.73 |
| 135 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.73 |
| 136 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 1.73 |
| 137 | Klippel-trenaunay-weber syndrome | Enrichment | GNAQ | 1.65 |
| 138 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 1.65 |
| 139 | Brachydactyly | Enrichment | GNAS | 1.58 |
| 140 | Developmental and epileptic encephalopathy 14 | Enrichment | PLCB1 | 1.48 |
| 141 | Primary hyperaldosteronism | Enrichment | GNAS | 1.48 |
| 142 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1 | 1.48 |
| 143 | Peters-plus syndrome | Enrichment | COL4A1 | 1.43 |
| 144 | Stroke, ischemic | Enrichment | F2 | 1.43 |
| 145 | Familial colorectal cancer | Enrichment | PLA2G2A | 1.43 |
| 146 | Digeorge syndrome | Enrichment | GP1BB | 1.35 |
| 147 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1 | 1.29 |
| 148 | Walker-warburg syndrome | Enrichment | COL4A1 | 1.29 |
| 149 | Corpus callosum, agenesis of | Enrichment | COL4A1 | 1.26 |
| 150 | Anterior segment dysgenesis | Enrichment | COL4A1 | 1.26 |
| 151 | Isolated corpus callosum agenesis | Enrichment | COL4A1 | 1.26 |
| 152 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | COL4A1 | 1.26 |
| 153 | Myocardial infarction | Enrichment | ITGB3 | 1.10 |
| 154 | Malaria | Enrichment | CD36 | 1.08 |
| 155 | Congenital stationary night blindness | Enrichment | GNB3 | 1.08 |
| 156 | Cakut | Enrichment | COL4A1 | 0.92 |
| 157 | Benign epilepsy with centrotemporal spikes | Enrichment | PLCB1 | 0.84 |
| 158 | Centralopathic epilepsy | Enrichment | PLCB1 | 0.82 |
| 159 | West syndrome | Enrichment | PLCB1 | 0.82 |
| 160 | Hypertelorism | Enrichment | COL1A1 | 0.75 |
| 161 | Colorectal cancer | Enrichment | PLA2G2A | 0.55 |
| 162 | Microcephaly | Enrichment | COL4A1 | 0.43 |