| 1 | C1 inhibitor deficiency | Direct | | |
| 2 | Factor viii deficiency | Direct | | |
| 3 | Hemophilia b | Direct | | |
| 4 | Hereditary angioedema | Direct | | |
| 5 | Thrombophilia | Direct | | |
| 6 | Thrombocytopenia | Enrichment | F10, F11, F8, FGG, GP1BA, GP1BB, GP9, PROS1, THBD, VWF | 16.00 |
| 7 | Atypical hemolytic uremic syndrome with complement gene abnormality | Enrichment | C3, CD46, CFB, CFH, CFI, THBD | 10.61 |
| 8 | Immunodeficiency due to a classical component pathway complement deficiency | Enrichment | C1QA, C1QB, C1QC, C1R, C1S, C2, C4B | 10.56 |
| 9 | Thrombophilia due to thrombin defect | Enrichment | F13A1, F13B, F2, FGA | 10.18 |
| 10 | Dysfibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 8.87 |
| 11 | Familial dysfibrinogenemia | Enrichment | FGA, FGB, FGG | 8.87 |
| 12 | Familial hypofibrinogenemia | Enrichment | FGA, FGB, FGG | 8.87 |
| 13 | Afibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 8.27 |
| 14 | Immunodeficiency due to a late component of complement deficiency | Enrichment | C6, C7, C8G, C9 | 7.95 |
| 15 | Bernard-soulier syndrome | Enrichment | GP1BA, GP1BB, GP9 | 7.37 |
| 16 | Angioedema, hereditary, 1 | Enrichment | F12, PLG, SERPING1 | 7.11 |
| 17 | C1q deficiency 1 | Enrichment | C1QA, C1QB, C1QC | 7.11 |
| 18 | Genetic atypical hemolytic-uremic syndrome | Enrichment | C3, CD46, CFH | 7.11 |
| 19 | Hellp syndrome | Enrichment | CD46, CFH, CFI | 6.51 |
| 20 | Atypical hemolytic-uremic syndrome | Enrichment | C3, CD46, CFH, CFI | 6.37 |
| 21 | Factor xiii deficiency | Enrichment | F13A1, F13B | 5.88 |
| 22 | Cerebral palsy | Enrichment | COL4A1, F2, F8, PROC | 5.65 |
| 23 | Angioedema | Enrichment | F12, SERPING1 | 5.56 |
| 24 | Cerebral sinovenous thrombosis | Enrichment | F2, F5 | 5.41 |
| 25 | Factor x deficiency | Enrichment | F10, F11 | 5.12 |
| 26 | Congenital factor x deficiency | Enrichment | F10, F11 | 5.12 |
| 27 | Hemophilia a | Enrichment | F8, F9 | 4.82 |
| 28 | Macular degeneration, age-related, 14 | Enrichment | C2, CFB | 4.73 |
| 29 | De novo thrombotic microangiopathy after kidney transplantation | Enrichment | CFH, CFI | 4.73 |
| 30 | Periodontal ehlers-danlos syndrome | Enrichment | C1R, C1S | 4.73 |
| 31 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | GP1BA, GP1BB | 4.39 |
| 32 | Ehlers-danlos syndrome, periodontal type, 1 | Enrichment | C1R, C1S | 4.25 |
| 33 | Ehlers-danlos syndrome, periodontal type, 2 | Enrichment | C1R, C1S | 4.25 |
| 34 | Familial drusen | Enrichment | CFH, CFI | 4.25 |
| 35 | Stroke, ischemic | Enrichment | F2, F5 | 4.23 |
| 36 | Prothrombin deficiency, congenital | Enrichment | F2 | 4.13 |
| 37 | Pregnancy loss, recurrent 2 | Enrichment | F2 | 4.13 |
| 38 | Prothrombin deficiency | Enrichment | F2 | 4.13 |
| 39 | Autosomal dominant macrothrombocytopenia | Enrichment | GP1BA, GP1BB | 3.91 |
| 40 | Hemolytic uremic syndrome, atypical 1 | Enrichment | C3AR1, CFH | 3.73 |
| 41 | Systemic lupus erythematosus 16 | Enrichment | C1QA, C1R | 3.73 |
| 42 | Myocardial infarction | Enrichment | F13A1, F7 | 3.53 |
| 43 | Factor vii deficiency | Enrichment | F7 | 3.43 |
| 44 | Warfarin sensitivity, x-linked | Enrichment | F9 | 3.43 |
| 45 | Thrombophilia, x-linked, due to factor ix defect | Enrichment | F9 | 3.43 |
| 46 | Hemophilia b leyden | Enrichment | F9 | 3.43 |
| 47 | Congenital factor vii deficiency | Enrichment | F7 | 3.43 |
| 48 | Thrombophilia due to protein c deficiency, autosomal dominant | Enrichment | PROC | 2.93 |
| 49 | Angioedema, hereditary, 3 | Enrichment | F12 | 2.93 |
| 50 | Hemolytic uremic syndrome, atypical 6 | Enrichment | THBD | 2.93 |
| 51 | Thrombophilia due to protein s deficiency, autosomal dominant | Enrichment | PROS1 | 2.93 |
| 52 | Factor v deficiency | Enrichment | F5 | 2.93 |
| 53 | Thrombophilia due to protein s deficiency, autosomal recessive | Enrichment | PROS1 | 2.93 |
| 54 | Thrombophilia due to activated protein c resistance | Enrichment | F5 | 2.93 |
| 55 | Thrombophilia due to protein c deficiency, autosomal recessive | Enrichment | PROC | 2.93 |
| 56 | Antithrombin iii deficiency | Enrichment | SERPINC1 | 2.93 |
| 57 | Factor xiii, b subunit, deficiency of | Enrichment | F13B | 2.93 |
| 58 | Thrombophilia due to thrombomodulin defect | Enrichment | THBD | 2.93 |
| 59 | Factor xiii, a subunit, deficiency of | Enrichment | F13A1 | 2.93 |
| 60 | Protein s deficiency | Enrichment | PROS1 | 2.93 |
| 61 | Factor v atlanta bleeding disorder | Enrichment | F5 | 2.93 |
| 62 | Congenital fibrinogen deficiency | Enrichment | FGG | 2.93 |
| 63 | Factor v leiden thrombophilia | Enrichment | F5 | 2.93 |
| 64 | Severe hereditary thrombophilia due to congenital protein c deficiency | Enrichment | PROC | 2.93 |
| 65 | Protein c deficiency | Enrichment | PROC | 2.93 |
| 66 | Urticaria | Enrichment | F12 | 2.93 |
| 67 | Factor v amsterdam bleeding disorder | Enrichment | F5 | 2.93 |
| 68 | Hereditary thrombophilia due to congenital protein s deficiency | Enrichment | PROS1 | 2.93 |
| 69 | F12-associated cold autoinflammatory syndrome | Enrichment | F12 | 2.93 |
| 70 | Thrombophilia, x-linked, due to factor viii defect | Enrichment | F8 | 2.79 |
| 71 | Von willebrand disease, type 1 | Enrichment | VWF | 2.79 |
| 72 | Alpha-2-plasmin inhibitor deficiency | Enrichment | SERPINF2 | 2.79 |
| 73 | Prekallikrein deficiency | Enrichment | KLKB1 | 2.79 |
| 74 | Von willebrand disease, type 2 | Enrichment | VWF | 2.79 |
| 75 | Angioedema, hereditary, 4 | Enrichment | PLG | 2.79 |
| 76 | Von willebrand disease, type 3 | Enrichment | VWF | 2.79 |
| 77 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.79 |
| 78 | Von willebrand's disease | Enrichment | VWF | 2.79 |
| 79 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.79 |
| 80 | Lethal hydranencephaly-diaphragmatic hernia syndrome | Enrichment | PLAT | 2.79 |
| 81 | Inherited prekallikrein deficiency | Enrichment | KLKB1 | 2.79 |
| 82 | Bernard-soulier syndrome, type a2, autosomal dominant | Enrichment | GP1BA | 2.77 |
| 83 | Complement component 4, partial deficiency of | Enrichment | SERPING1 | 2.77 |
| 84 | High molecular weight kininogen deficiency | Enrichment | KNG1 | 2.77 |
| 85 | Nonarteritic anterior ischemic optic neuropathy | Enrichment | GP1BA | 2.77 |
| 86 | Von willebrand disease, platelet-type | Enrichment | GP1BA | 2.77 |
| 87 | Combined oxidative phosphorylation deficiency 33 | Enrichment | C1QBP | 2.77 |
| 88 | Angioedema, hereditary, 6 | Enrichment | KNG1 | 2.77 |
| 89 | Bernard-soulier syndrome type a2 | Enrichment | GP1BA | 2.77 |
| 90 | Hereditary angioedema with c1inh deficiency | Enrichment | SERPING1 | 2.77 |
| 91 | Cholesteatoma, congenital | Enrichment | F13B | 2.63 |
| 92 | Factor xii deficiency | Enrichment | F12 | 2.63 |
| 93 | Bleeding disorder, east texas type | Enrichment | F5 | 2.63 |
| 94 | Cholesteatoma | Enrichment | F13B | 2.63 |
| 95 | Bleeding disorder, platelet-type, 11 | Enrichment | GP6 | 2.61 |
| 96 | Porencephaly | Enrichment | COL4A1 | 2.61 |
| 97 | Col4a1-related disorders | Enrichment | COL4A1 | 2.61 |
| 98 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 2.61 |
| 99 | Surfactant metabolism dysfunction, pulmonary, 3 | Enrichment | F8 | 2.49 |
| 100 | Plasminogen deficiency, type i | Enrichment | PLG | 2.49 |
| 101 | Quebec platelet disorder | Enrichment | PLAU | 2.49 |
| 102 | Kallikrein, decreased urinary activity of | Enrichment | KLK1 | 2.49 |
| 103 | Factor xi deficiency | Enrichment | F11 | 2.49 |
| 104 | 3mc syndrome 1 | Enrichment | MASP1 | 2.36 |
| 105 | Complement component 2 deficiency | Enrichment | C2 | 2.36 |
| 106 | Basal laminar drusen | Enrichment | CFH | 2.36 |
| 107 | Complement component 7 deficiency | Enrichment | C7 | 2.36 |
| 108 | Hemolytic uremic syndrome, atypical 4 | Enrichment | CFB | 2.36 |
| 109 | Complement factor d deficiency | Enrichment | CFD | 2.36 |
| 110 | Macular degeneration, age-related, 4 | Enrichment | CFH | 2.36 |
| 111 | Hemolytic uremic syndrome, atypical 5 | Enrichment | C3 | 2.36 |
| 112 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | Enrichment | CD55 | 2.36 |
| 113 | Blood group, cromer system | Enrichment | CD55 | 2.36 |
| 114 | Macular degeneration, age-related, 15 | Enrichment | C9 | 2.36 |
| 115 | Hemolytic uremic syndrome, atypical 3 | Enrichment | CFI | 2.36 |
| 116 | Macular degeneration, age-related, 13 | Enrichment | CFI | 2.36 |
| 117 | C1q deficiency 3 | Enrichment | C1QC | 2.36 |
| 118 | Complement factor h deficiency | Enrichment | CFH | 2.36 |
| 119 | Complement factor i deficiency | Enrichment | CFI | 2.36 |
| 120 | Complement component 4b deficiency | Enrichment | C4B | 2.36 |
| 121 | Masp2 deficiency | Enrichment | MASP2 | 2.36 |
| 122 | Hemolytic uremic syndrome, atypical 2 | Enrichment | CD46 | 2.36 |
| 123 | Alpha-1-antitrypsin deficiency | Enrichment | SERPINA1 | 2.36 |
| 124 | Macular degeneration, age-related, 9 | Enrichment | C3 | 2.36 |
| 125 | Complement component 9 deficiency | Enrichment | C9 | 2.36 |
| 126 | Complement component 3 deficiency, autosomal recessive | Enrichment | C3 | 2.36 |
| 127 | Complement factor b deficiency | Enrichment | CFB | 2.36 |
| 128 | Complement component 3 deficiency | Enrichment | C3 | 2.36 |
| 129 | C1q deficiency 2 | Enrichment | C1QB | 2.36 |
| 130 | Hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation | Enrichment | SERPINA1 | 2.36 |
| 131 | Membranoproliferative glomerulonephritis | Enrichment | C3 | 2.36 |
| 132 | Primary membranoproliferative glomerulonephritis | Enrichment | C3 | 2.36 |
| 133 | Protein-losing enteropathy | Enrichment | CD55 | 2.36 |
| 134 | Genetic hemolytic uremic syndrome | Enrichment | CFH | 2.36 |
| 135 | Immunodeficiency due to masp-2 deficiency | Enrichment | MASP2 | 2.36 |
| 136 | Recurrent neisseria infections due to factor d deficiency | Enrichment | CFD | 2.36 |
| 137 | Immunodeficiency with factor h anomaly | Enrichment | CFH | 2.36 |
| 138 | Budd-chiari syndrome | Enrichment | F5 | 2.33 |
| 139 | Pregnancy loss, recurrent 1 | Enrichment | F5 | 2.33 |
| 140 | Heparin cofactor ii deficiency | Enrichment | SERPIND1 | 2.31 |
| 141 | Periventricular nodular heterotopia 1 | Enrichment | VWF | 2.31 |
| 142 | Amyloidosis, hereditary systemic 2 | Enrichment | FGA | 2.23 |
| 143 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1 | 2.19 |
| 144 | Hereditary angioedema with normal c1inh not related to f12 or plg variant | Enrichment | KNG1 | 2.17 |
| 145 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 2.14 |
| 146 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 2.14 |
| 147 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 2.14 |
| 148 | Alzheimer disease 2 | Enrichment | PLAU | 2.09 |
| 149 | Cystic fibrosis | Enrichment | PLG, SERPINA1 | 2.07 |
| 150 | Cyclic neutropenia | Enrichment | CFD | 2.06 |
| 151 | Immunodeficiency, common variable, 2 | Enrichment | CR2 | 2.06 |
| 152 | Complement component c1s deficiency | Enrichment | C1S | 2.06 |
| 153 | Complement component 6 deficiency | Enrichment | C6 | 2.06 |
| 154 | Immunodeficiency, common variable, 7 | Enrichment | CR2 | 2.06 |
| 155 | Nephrotic syndrome, type 7 | Enrichment | CFH | 2.06 |
| 156 | Combined deficiency of factor v and factor viii | Enrichment | LMAN1 | 2.06 |
| 157 | Spastic paraplegia 4, autosomal dominant | Enrichment | FGG | 2.03 |
| 158 | Granulomatosis with polyangiitis | Enrichment | PRTN3 | 2.01 |
| 159 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1 | 2.01 |
| 160 | Schizencephaly | Enrichment | COL4A1 | 2.01 |
| 161 | Familial porencephaly | Enrichment | COL4A1 | 1.92 |
| 162 | Systemic lupus erythematosus | Enrichment | C4B, CR2 | 1.91 |
| 163 | Bilirubin metabolic disorder | Enrichment | F12 | 1.89 |
| 164 | Neutropenia, severe congenital, 1, autosomal dominant | Enrichment | CFD | 1.89 |
| 165 | Factor v and factor viii, combined deficiency of, 1 | Enrichment | LMAN1 | 1.89 |
| 166 | Intellectual developmental disorder, x-linked 109 | Enrichment | SERPINA1 | 1.89 |
| 167 | Systemic lupus erythematosus 9 | Enrichment | CR2 | 1.89 |
| 168 | Intellectual developmental disorder, autosomal dominant 56 | Enrichment | CLTC | 1.89 |
| 169 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 1.84 |
| 170 | Hemorrhage, intracerebral | Enrichment | COL4A1 | 1.84 |
| 171 | Keratoconus | Enrichment | COL4A1 | 1.84 |
| 172 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | Enrichment | CLTC | 1.76 |
| 173 | Thrombotic microangiopathy | Enrichment | CD46 | 1.76 |
| 174 | Hypertension | Enrichment | F12 | 1.73 |
| 175 | Digeorge syndrome | Enrichment | GP1BB | 1.70 |
| 176 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | Enrichment | MASP2 | 1.67 |
| 177 | C3 glomerulopathy | Enrichment | CFH | 1.67 |
| 178 | Peters-plus syndrome | Enrichment | COL4A1 | 1.62 |
| 179 | Inflammatory myofibroblastic tumor | Enrichment | CLTC | 1.59 |
| 180 | 3mc syndrome | Enrichment | MASP1 | 1.59 |
| 181 | Alzheimer disease, familial, 1 | Enrichment | PLAU | 1.56 |
| 182 | Noonan syndrome 3 | Enrichment | CLTC | 1.52 |
| 183 | Renal cell carcinoma with mit translocations | Enrichment | CLTC | 1.52 |
| 184 | Walker-warburg syndrome | Enrichment | COL4A1 | 1.47 |
| 185 | Severe covid-19 | Enrichment | F13B | 1.47 |
| 186 | Corpus callosum, agenesis of | Enrichment | COL4A1 | 1.44 |
| 187 | Anterior segment dysgenesis | Enrichment | COL4A1 | 1.44 |
| 188 | Isolated corpus callosum agenesis | Enrichment | COL4A1 | 1.44 |
| 189 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | COL4A1 | 1.44 |
| 190 | Pulmonary disease, chronic obstructive | Enrichment | SERPINA1 | 1.26 |
| 191 | Chronic kidney disease | Enrichment | CFH | 1.26 |
| 192 | Ehlers-danlos syndrome | Enrichment | C1R | 1.10 |
| 193 | Cakut | Enrichment | COL4A1 | 1.10 |
| 194 | Malaria | Enrichment | CR1 | 1.02 |
| 195 | Mitochondrial disease | Enrichment | C1QBP | 0.86 |
| 196 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CLTC | 0.71 |
| 197 | Undetermined early-onset epileptic encephalopathy | Enrichment | CLTC | 0.66 |
| 198 | Microcephaly | Enrichment | COL4A1 | 0.59 |
| 199 | Hereditary retinal dystrophy | Enrichment | CFH | 0.14 |
| 200 | Fundus dystrophy | Enrichment | CFH | 0.14 |