| 1 | Methemoglobinemia, beta type | Enrichment | HBA1, HBA2, HBB | 7.86 |
| 2 | Autosomal dominant secondary polycythemia | Enrichment | HBA1, HBA2, HBB | 7.86 |
| 3 | Heinz body anemias | Enrichment | HBA1, HBA2, HBB | 7.42 |
| 4 | Heinz body anemia | Enrichment | HBA1, HBA2, HBB | 7.42 |
| 5 | Alpha-thalassemia | Enrichment | HBA1, HBA2, HBB | 7.24 |
| 6 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | ALB, COL1A1, COL1A2 | 6.96 |
| 7 | Protein-deficiency anemia | Enrichment | HBA1, HBA2, HBB | 6.71 |
| 8 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 5.73 |
| 9 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 5.73 |
| 10 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, COL3A1 | 5.65 |
| 11 | Alpha thalassemia-intellectual disability syndrome type 1 | Enrichment | HBA1, HBA2 | 5.59 |
| 12 | Erythrocytosis, familial, 7 | Enrichment | HBA1, HBA2 | 5.29 |
| 13 | Hemoglobin h disease | Enrichment | HBA1, HBA2 | 5.29 |
| 14 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 5.25 |
| 15 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2, SPARC | 5.11 |
| 16 | Thalassemia | Enrichment | HBA2, HBB | 5.07 |
| 17 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1, COL4A2 | 4.95 |
| 18 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 4.95 |
| 19 | Beta-thalassemia | Enrichment | HBA2, HBB | 4.75 |
| 20 | Beta-thalassemia major | Enrichment | HBA2, HBB | 4.75 |
| 21 | Familial porencephaly | Enrichment | COL4A1, COL4A2 | 4.73 |
| 22 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2 | 4.56 |
| 23 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 4.56 |
| 24 | Hemorrhage, intracerebral | Enrichment | COL4A1, COL4A2 | 4.56 |
| 25 | 3mc syndrome | Enrichment | COLEC11, MASP1 | 4.56 |
| 26 | Keratoconus | Enrichment | COL1A1, COL4A1 | 4.56 |
| 27 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 4.56 |
| 28 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 4.41 |
| 29 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 4.08 |
| 30 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 3.99 |
| 31 | Osteoporosis | Enrichment | COL1A1, COL1A2 | 3.78 |
| 32 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 3.71 |
| 33 | Familial hypercholesterolemia | Enrichment | APOB, APOE | 3.71 |
| 34 | Hydrops fetalis, nonimmune | Enrichment | HBA1, HBA2 | 3.57 |
| 35 | Hyperferritinemia | Enrichment | STAB1 | 3.53 |
| 36 | Coronary heart disease 7 | Enrichment | CD36 | 3.35 |
| 37 | High density lipoprotein cholesterol level quantitative trait locus 6 | Enrichment | SCARB1 | 3.35 |
| 38 | Platelet glycoprotein iv deficiency | Enrichment | CD36 | 3.35 |
| 39 | Serum amyloid a amyloidosis | Enrichment | SAA1 | 3.35 |
| 40 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 3.34 |
| 41 | Hypobetalipoproteinemia, familial, 1 | Enrichment | APOB | 3.23 |
| 42 | Osteogenesis imperfecta, type xvii | Enrichment | SPARC | 3.23 |
| 43 | Hypobetalipoproteinemia | Enrichment | APOB | 3.23 |
| 44 | Hypercholesterolemia, familial, 2 | Enrichment | APOB | 3.05 |
| 45 | Hypoalphalipoproteinemia, primary, 2, intermediate | Enrichment | APOA1 | 3.05 |
| 46 | Amyloidosis, hereditary systemic 3 | Enrichment | APOA1 | 3.05 |
| 47 | Immunodeficiency 59 and hypoglycemia | Enrichment | HYOU1 | 3.05 |
| 48 | Atrophoderma vermiculata | Enrichment | LRP1 | 3.02 |
| 49 | Focal segmental glomerulosclerosis 4 | Enrichment | APOL1 | 3.02 |
| 50 | Keratosis pilaris atrophicans | Enrichment | LRP1 | 3.02 |
| 51 | Hyperthyroxinemia, familial dysalbuminemic | Enrichment | ALB | 3.02 |
| 52 | Anhaptoglobinemia | Enrichment | HP | 3.02 |
| 53 | Congenital analbuminemia | Enrichment | ALB | 3.02 |
| 54 | Sickle cell-beta-thalassemia disease syndrome | Enrichment | HBB | 3.02 |
| 55 | Analbuminemia | Enrichment | ALB | 3.02 |
| 56 | Hemoglobin c-beta-thalassemia syndrome | Enrichment | HBB | 3.02 |
| 57 | Sickle cell s-o arab disease | Enrichment | HBB | 3.02 |
| 58 | Sickle cell-beta zero-thalassemia | Enrichment | HBB | 3.02 |
| 59 | Sickle cell s-d punjab disease | Enrichment | HBB | 3.02 |
| 60 | Sickle cell s-c disease | Enrichment | HBB | 3.02 |
| 61 | Sickle cell s-e disease | Enrichment | HBB | 3.02 |
| 62 | Homozygous hemoglobin o arab disease | Enrichment | HBB | 3.02 |
| 63 | Sickle cell s-other specified hemoglobin variant | Enrichment | HBB | 3.02 |
| 64 | Hyperalphalipoproteinemia 1 | Enrichment | SCARB1 | 2.88 |
| 65 | Hypoalphalipoproteinemia, primary, 2 | Enrichment | APOA1 | 2.88 |
| 66 | Spastic paraplegia 50, autosomal recessive | Enrichment | APOA1 | 2.88 |
| 67 | Thrombocythemia 1 | Enrichment | CALR | 2.88 |
| 68 | Cerebral palsy | Enrichment | COL4A1, COL4A2 | 2.87 |
| 69 | 3mc syndrome 1 | Enrichment | MASP1 | 2.85 |
| 70 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.85 |
| 71 | Sea-blue histiocyte disease | Enrichment | APOE | 2.85 |
| 72 | Neurodegeneration with brain iron accumulation 3 | Enrichment | FTL | 2.85 |
| 73 | Lipoprotein glomerulopathy | Enrichment | APOE | 2.85 |
| 74 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.85 |
| 75 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.85 |
| 76 | Porencephaly | Enrichment | COL4A1 | 2.85 |
| 77 | L-ferritin deficiency | Enrichment | FTL | 2.85 |
| 78 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.85 |
| 79 | Col4a1-related disorders | Enrichment | COL4A1 | 2.85 |
| 80 | Genetic hyperferritinemia without iron overload | Enrichment | FTL | 2.85 |
| 81 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 2.85 |
| 82 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.85 |
| 83 | Hyperlipidemia, familial combined, 3 | Enrichment | APOB | 2.83 |
| 84 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, COL3A1 | 2.77 |
| 85 | Hypoalphalipoproteinemia, primary, 1 | Enrichment | APOA1 | 2.75 |
| 86 | Blood platelet disease | Enrichment | CD36 | 2.75 |
| 87 | Cerebral malaria | Enrichment | CD36 | 2.75 |
| 88 | Budd-chiari syndrome | Enrichment | CALR | 2.75 |
| 89 | Methemoglobinemia, alpha type | Enrichment | HBA1 | 2.72 |
| 90 | Developmental dysplasia of the hip 3 | Enrichment | LRP1 | 2.72 |
| 91 | Glomerulonephritis | Enrichment | APOL1 | 2.72 |
| 92 | Hemoglobin lepore-beta-thalassemia syndrome | Enrichment | HBB | 2.72 |
| 93 | Sickle cell s-lepore disease | Enrichment | HBB | 2.72 |
| 94 | Amyloidosis, hereditary systemic 2 | Enrichment | APOA1 | 2.66 |
| 95 | Malaria | Enrichment | CD36, HBB | 2.64 |
| 96 | Homozygous familial hypercholesterolemia | Enrichment | APOB | 2.63 |
| 97 | Coronary heart disease 5 | Enrichment | APOB | 2.58 |
| 98 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 2.55 |
| 99 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.55 |
| 100 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 2.55 |
| 101 | Vitreoretinochoroidopathy | Enrichment | FTH1 | 2.55 |
| 102 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.55 |
| 103 | Alzheimer disease 3 | Enrichment | APOE | 2.55 |
| 104 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.55 |
| 105 | 3mc syndrome 2 | Enrichment | COLEC11 | 2.55 |
| 106 | Retinitis pigmentosa 50 | Enrichment | FTH1 | 2.55 |
| 107 | Hyperferritinemia with or without cataract | Enrichment | FTL | 2.55 |
| 108 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | Enrichment | COL4A2 | 2.55 |
| 109 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.55 |
| 110 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 2.55 |
| 111 | Hyperlipoproteinemia, type iii | Enrichment | APOE | 2.55 |
| 112 | Hemochromatosis, type 5 | Enrichment | FTH1 | 2.55 |
| 113 | Aortic dissection | Enrichment | COL3A1 | 2.55 |
| 114 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.55 |
| 115 | Neurodegeneration with brain iron accumulation 9 | Enrichment | FTH1 | 2.55 |
| 116 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.55 |
| 117 | Keratosis follicularis spinulosa decalvans | Enrichment | LRP1 | 2.54 |
| 118 | Hemoglobin e disease | Enrichment | HBB | 2.54 |
| 119 | Sickle cell-hemoglobin c disease | Enrichment | HBB | 2.54 |
| 120 | Hemoglobin d disease | Enrichment | HBB | 2.54 |
| 121 | Delta beta-thalassemia | Enrichment | HBB | 2.54 |
| 122 | Unstable hemoglobin disease | Enrichment | HBB | 2.54 |
| 123 | Hemoglobin e/beta thalassemia disease | Enrichment | HBB | 2.54 |
| 124 | Myelofibrosis | Enrichment | CALR | 2.51 |
| 125 | Essential thrombocythemia | Enrichment | CALR | 2.51 |
| 126 | Sickle cell disease | Enrichment | HBB | 2.42 |
| 127 | Beta-thalassemia, dominant inclusion body type | Enrichment | HBB | 2.42 |
| 128 | Erythrocytosis, familial, 6 | Enrichment | HBB | 2.42 |
| 129 | Beta-thalassemia intermedia | Enrichment | HBB | 2.42 |
| 130 | Hemoglobinopathy | Enrichment | HBB | 2.42 |
| 131 | Hemoglobin c disease | Enrichment | HBB | 2.42 |
| 132 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | Enrichment | HBB | 2.42 |
| 133 | Methemoglobinemia, beta-globin type | Enrichment | HBB | 2.42 |
| 134 | Hypercholesterolemia, familial, 1 | Enrichment | APOB | 2.42 |
| 135 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 2.38 |
| 136 | Alzheimer disease 4 | Enrichment | APOE | 2.38 |
| 137 | Caffey disease | Enrichment | COL1A1 | 2.38 |
| 138 | Brain small vessel disease 2 | Enrichment | COL4A2 | 2.38 |
| 139 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 2.38 |
| 140 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 2.38 |
| 141 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | Enrichment | HBB | 2.32 |
| 142 | Phenylketonuria | Enrichment | COL1A1 | 2.25 |
| 143 | Schizencephaly | Enrichment | COL4A1 | 2.25 |
| 144 | Macular degeneration, age-related, 1 | Enrichment | APOE | 2.25 |
| 145 | Bestrophinopathy, autosomal recessive | Enrichment | FTH1 | 2.25 |
| 146 | Barrett esophagus | Enrichment | MSR1 | 2.25 |
| 147 | Hemolytic anemia | Enrichment | HBB | 2.17 |
| 148 | Alzheimer disease 2 | Enrichment | APOE | 2.16 |
| 149 | Macular dystrophy, vitelliform, 2 | Enrichment | FTH1 | 2.16 |
| 150 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 2.16 |
| 151 | Fetal hemoglobin quantitative trait locus 1 | Enrichment | HBB | 2.12 |
| 152 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 2.08 |
| 153 | Lipid metabolism disorder | Enrichment | APOE | 2.08 |
| 154 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1 | 1.95 |
| 155 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1 | 1.90 |
| 156 | Peters-plus syndrome | Enrichment | COL4A1 | 1.86 |
| 157 | Atypical hemolytic-uremic syndrome | Enrichment | HBB | 1.85 |
| 158 | Asthma | Enrichment | SCGB3A2 | 1.82 |
| 159 | Alzheimer's disease | Enrichment | APOE | 1.74 |
| 160 | Focal segmental glomerulosclerosis | Enrichment | APOL1 | 1.72 |
| 161 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1 | 1.71 |
| 162 | Walker-warburg syndrome | Enrichment | COL4A1 | 1.71 |
| 163 | Corpus callosum, agenesis of | Enrichment | COL4A1 | 1.68 |
| 164 | Anterior segment dysgenesis | Enrichment | COL4A1 | 1.68 |
| 165 | Isolated corpus callosum agenesis | Enrichment | COL4A1 | 1.68 |
| 166 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | COL4A1 | 1.68 |
| 167 | Multisystem inflammatory syndrome in children | Enrichment | CD163 | 1.68 |
| 168 | Alzheimer disease, familial, 1 | Enrichment | APOE | 1.63 |
| 169 | Non-immune hydrops fetalis | Enrichment | HBA2 | 1.53 |
| 170 | Genetic steroid-resistant nephrotic syndrome | Enrichment | APOL1 | 1.49 |
| 171 | Prostate cancer | Enrichment | MSR1 | 1.40 |
| 172 | Cakut | Enrichment | COL4A1 | 1.33 |
| 173 | Hypertelorism | Enrichment | COL1A1 | 1.15 |
| 174 | Ovarian cancer | Enrichment | MSR1 | 0.88 |
| 175 | Microcephaly | Enrichment | COL4A1 | 0.80 |
| 176 | Hereditary retinal dystrophy | Enrichment | FTH1 | 0.47 |
| 177 | Fundus dystrophy | Enrichment | FTH1 | 0.47 |