| 1 | Familial hypercholesterolemia | Enrichment | APOA2, APOB, APOE, PCSK9 | 5.31 |
| 2 | Amelogenesis imperfecta, type ie | Enrichment | AMBN, AMELX, ENAM | 4.25 |
| 3 | Cerebral amyloid angiopathy, cst3-related | Enrichment | APP, CST3 | 4.20 |
| 4 | Stroke, ischemic | Enrichment | F2, F5, FBN1 | 4.06 |
| 5 | Hypercholesterolemia, familial, 1 | Enrichment | APOA2, APOB, PCSK9 | 3.88 |
| 6 | Dysfibrinogenemia, congenital | Enrichment | FGA, FGG | 3.73 |
| 7 | Familial dysfibrinogenemia | Enrichment | FGA, FGG | 3.73 |
| 8 | Familial hypofibrinogenemia | Enrichment | FGA, FGG | 3.73 |
| 9 | Cerebral sinovenous thrombosis | Enrichment | F2, F5 | 3.60 |
| 10 | Afibrinogenemia, congenital | Enrichment | FGA, FGG | 3.43 |
| 11 | Polycystic liver disease 1 with or without kidney cysts | Enrichment | FBN1, PRKCSH | 3.21 |
| 12 | Amyloidosis, hereditary systemic 2 | Enrichment | APOA1, FGA | 3.21 |
| 13 | Polycystic liver disease 1 | Enrichment | FBN1, PRKCSH | 3.21 |
| 14 | Hypophosphatemic rickets | Enrichment | DMP1, FGF23 | 2.89 |
| 15 | Homozygous familial hypercholesterolemia | Enrichment | APOB, PCSK9 | 2.77 |
| 16 | Immunodeficiency due to a classical component pathway complement deficiency | Enrichment | C4A, C4B | 2.77 |
| 17 | Thrombophilia due to thrombin defect | Enrichment | F2, FGA | 2.77 |
| 18 | Stickler syndrome | Enrichment | BMP4, VCAN | 2.57 |
| 19 | Diabetes mellitus | Enrichment | MEN1, WFS1 | 2.48 |
| 20 | Systemic lupus erythematosus | Enrichment | C4A, C4B, SPP1 | 2.44 |
| 21 | Alzheimer's disease | Enrichment | APOE, APP | 2.33 |
| 22 | Amelogenesis imperfecta | Enrichment | AMELX, ENAM | 2.33 |
| 23 | Alzheimer disease, familial, 1 | Enrichment | APOE, APP | 2.10 |
| 24 | Cole-carpenter syndrome 1 | Enrichment | P4HB | 2.10 |
| 25 | Cataract 41 | Enrichment | WFS1 | 2.10 |
| 26 | Thrombophilia due to protein c deficiency, autosomal dominant | Enrichment | PROC | 2.10 |
| 27 | Ectopia lentis 1, isolated, autosomal dominant | Enrichment | FBN1 | 2.10 |
| 28 | High molecular weight kininogen deficiency | Enrichment | KNG1 | 2.10 |
| 29 | Hypophosphatemic rickets, autosomal recessive, 1 | Enrichment | DMP1 | 2.10 |
| 30 | Sea-blue histiocyte disease | Enrichment | APOE | 2.10 |
| 31 | Wolfram syndrome 1 | Enrichment | WFS1 | 2.10 |
| 32 | Deafness, autosomal dominant 6 | Enrichment | WFS1 | 2.10 |
| 33 | Raine syndrome | Enrichment | FAM20C | 2.10 |
| 34 | Aceruloplasminemia | Enrichment | CP | 2.10 |
| 35 | Macular degeneration, age-related, 11 | Enrichment | CST3 | 2.10 |
| 36 | Hemolytic uremic syndrome, atypical 5 | Enrichment | C3 | 2.10 |
| 37 | Focal segmental glomerulosclerosis 4 | Enrichment | APOL1 | 2.10 |
| 38 | Lipoprotein glomerulopathy | Enrichment | APOE | 2.10 |
| 39 | Factor v deficiency | Enrichment | F5 | 2.10 |
| 40 | Lissencephaly 5 | Enrichment | LAMB1 | 2.10 |
| 41 | Weill-marchesani syndrome 2 | Enrichment | FBN1 | 2.10 |
| 42 | Wolfram-like syndrome, autosomal dominant | Enrichment | WFS1 | 2.10 |
| 43 | Deafness, autosomal dominant 56 | Enrichment | TNC | 2.10 |
| 44 | Hyperthyroxinemia, familial dysalbuminemic | Enrichment | ALB | 2.10 |
| 45 | Geleophysic dysplasia 2 | Enrichment | FBN1 | 2.10 |
| 46 | Protrusio acetabuli | Enrichment | FBN1 | 2.10 |
| 47 | Thrombophilia due to activated protein c resistance | Enrichment | F5 | 2.10 |
| 48 | Amelogenesis imperfecta, type ic | Enrichment | ENAM | 2.10 |
| 49 | Atransferrinemia | Enrichment | TF | 2.10 |
| 50 | Alopecia-intellectual disability syndrome 1 | Enrichment | AHSG | 2.10 |
| 51 | Alpha-fetoprotein, hereditary persistence of | Enrichment | AFP | 2.10 |
| 52 | Odontochondrodysplasia 2 with hearing loss and diabetes | Enrichment | MIA3 | 2.10 |
| 53 | Ovarian dysgenesis 2 | Enrichment | BMP15 | 2.10 |
| 54 | Amelogenesis imperfecta, type iiib | Enrichment | AMTN | 2.10 |
| 55 | Complement component 4a deficiency | Enrichment | C4A | 2.10 |
| 56 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.10 |
| 57 | Adrenal cortical adenoma | Enrichment | MEN1 | 2.10 |
| 58 | Lymphoplasmacytic lymphoma | Enrichment | FBN1 | 2.10 |
| 59 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.10 |
| 60 | Orofacial cleft 11 | Enrichment | BMP4 | 2.10 |
| 61 | Angioedema, hereditary, 6 | Enrichment | KNG1 | 2.10 |
| 62 | Familial apolipoprotein a5 deficiency | Enrichment | APOA5 | 2.10 |
| 63 | Alzheimer disease 18 | Enrichment | ADAM10 | 2.10 |
| 64 | Thrombophilia due to protein c deficiency, autosomal recessive | Enrichment | PROC | 2.10 |
| 65 | Hypercholesterolemia, familial, 3 | Enrichment | PCSK9 | 2.10 |
| 66 | Cerebral amyloid angiopathy, app-related | Enrichment | APP | 2.10 |
| 67 | Antithrombin iii deficiency | Enrichment | SERPINC1 | 2.10 |
| 68 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.10 |
| 69 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Enrichment | IGFBP7 | 2.10 |
| 70 | Blood group, chido/rodgers system | Enrichment | C4A | 2.10 |
| 71 | Complement component 4b deficiency | Enrichment | C4B | 2.10 |
| 72 | Amelogenesis imperfecta, type if | Enrichment | AMBN | 2.10 |
| 73 | Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome | Enrichment | MBTPS1 | 2.10 |
| 74 | Reticulate acropigmentation of kitamura | Enrichment | ADAM10 | 2.10 |
| 75 | Alpha-fetoprotein deficiency | Enrichment | AFP | 2.10 |
| 76 | Alpha-1-antitrypsin deficiency | Enrichment | SERPINA1 | 2.10 |
| 77 | Macular degeneration, age-related, 9 | Enrichment | C3 | 2.10 |
| 78 | Complement component 3 deficiency, autosomal recessive | Enrichment | C3 | 2.10 |
| 79 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | Enrichment | FGF23 | 2.10 |
| 80 | Neuronopathy, distal hereditary motor, autosomal recessive 7 | Enrichment | VWA1 | 2.10 |
| 81 | Cutis laxa, autosomal recessive, type iie | Enrichment | LTBP1 | 2.10 |
| 82 | Congenital analbuminemia | Enrichment | ALB | 2.10 |
| 83 | Factor v atlanta bleeding disorder | Enrichment | F5 | 2.10 |
| 84 | Immature teratoma of ovary | Enrichment | BMP15 | 2.10 |
| 85 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.10 |
| 86 | Analbuminemia | Enrichment | ALB | 2.10 |
| 87 | Complement component 3 deficiency | Enrichment | C3 | 2.10 |
| 88 | Congenital fibrinogen deficiency | Enrichment | FGG | 2.10 |
| 89 | Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy | Enrichment | CST3 | 2.10 |
| 90 | Hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation | Enrichment | SERPINA1 | 2.10 |
| 91 | Factor v leiden thrombophilia | Enrichment | F5 | 2.10 |
| 92 | Wolfram-like syndrome | Enrichment | WFS1 | 2.10 |
| 93 | Membranoproliferative glomerulonephritis | Enrichment | C3 | 2.10 |
| 94 | Primary membranoproliferative glomerulonephritis | Enrichment | C3 | 2.10 |
| 95 | Severe hereditary thrombophilia due to congenital protein c deficiency | Enrichment | PROC | 2.10 |
| 96 | Protein c deficiency | Enrichment | PROC | 2.10 |
| 97 | Adrenal adenoma | Enrichment | MEN1 | 2.10 |
| 98 | Primary triglyceride deposit cardiomyovasculopathy | Enrichment | PNPLA2 | 2.10 |
| 99 | Neonatal marfan syndrome | Enrichment | FBN1 | 2.10 |
| 100 | Factor v amsterdam bleeding disorder | Enrichment | F5 | 2.10 |
| 101 | Stromal corneal dystrophy | Enrichment | SPARCL1 | 2.10 |
| 102 | Aapoaii amyloidosis | Enrichment | APOA2 | 2.10 |
| 103 | Wfs1 spectrum disorder | Enrichment | WFS1 | 2.10 |
| 104 | Isolated congenital megalocornea | Enrichment | CHRDL1 | 2.10 |
| 105 | Wilms tumor 1 | Enrichment | GPC3, IGF2 | 2.09 |
| 106 | Prothrombin deficiency, congenital | Enrichment | F2 | 2.04 |
| 107 | Angioedema, hereditary, 4 | Enrichment | PLG | 2.04 |
| 108 | Acid-labile subunit deficiency | Enrichment | IGFALS | 2.04 |
| 109 | Short stature, dauber-argente type | Enrichment | PAPPA2 | 2.04 |
| 110 | Pregnancy loss, recurrent 2 | Enrichment | F2 | 2.04 |
| 111 | Prothrombin deficiency | Enrichment | F2 | 2.04 |
| 112 | Arteriovenous malformations of the brain | Enrichment | CDH2, IL6 | 2.01 |
| 113 | Acromicric dysplasia | Enrichment | FBN1 | 1.80 |
| 114 | Amelogenesis imperfecta, type ib | Enrichment | ENAM | 1.80 |
| 115 | Wagner vitreoretinopathy | Enrichment | VCAN | 1.80 |
| 116 | Hyperlipoproteinemia, type v | Enrichment | APOA5 | 1.80 |
| 117 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 1.80 |
| 118 | Amelogenesis imperfecta, type ig | Enrichment | FAM20A | 1.80 |
| 119 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 1.80 |
| 120 | Stiff skin syndrome | Enrichment | FBN1 | 1.80 |
| 121 | Myasthenic syndrome, congenital, 5 | Enrichment | LAMB2 | 1.80 |
| 122 | Alzheimer disease 3 | Enrichment | APOE | 1.80 |
| 123 | Epiphyseal dysplasia, multiple, 5 | Enrichment | MATN3 | 1.80 |
| 124 | Neutral lipid storage disease with myopathy | Enrichment | PNPLA2 | 1.80 |
| 125 | Hyperparathyroidism 1 | Enrichment | MEN1 | 1.80 |
| 126 | Corneal dystrophy, congenital stromal | Enrichment | SPARCL1 | 1.80 |
| 127 | Lissencephaly 1 | Enrichment | LAMB1 | 1.80 |
| 128 | Beaulieu-boycott-innes syndrome | Enrichment | FBN1 | 1.80 |
| 129 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | Enrichment | DNAJC3 | 1.80 |
| 130 | Spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type | Enrichment | MATN3 | 1.80 |
| 131 | Pierson syndrome | Enrichment | LAMB2 | 1.80 |
| 132 | Hermansky-pudlak syndrome 3 | Enrichment | CP | 1.80 |
| 133 | Hypobetalipoproteinemia, familial, 1 | Enrichment | APOB | 1.80 |
| 134 | Hyperlipoproteinemia, type iii | Enrichment | APOE | 1.80 |
| 135 | Bleeding disorder, east texas type | Enrichment | F5 | 1.80 |
| 136 | Nephrotic syndrome, type 5, with or without ocular abnormalities | Enrichment | LAMB2 | 1.80 |
| 137 | Autosomal recessive hypophosphatemic rickets | Enrichment | DMP1 | 1.80 |
| 138 | Aortic dissection | Enrichment | FBN1 | 1.80 |
| 139 | Marfanoid-progeroid-lipodystrophy syndrome | Enrichment | FBN1 | 1.80 |
| 140 | Glomerulonephritis | Enrichment | APOL1 | 1.80 |
| 141 | Medullary thyroid carcinoma | Enrichment | MEN1 | 1.80 |
| 142 | Wolfram syndrome | Enrichment | WFS1 | 1.80 |
| 143 | Neuronopathy, distal hereditary motor, autosomal recessive 5 | Enrichment | VWA1 | 1.80 |
| 144 | Hypobetalipoproteinemia | Enrichment | APOB | 1.80 |
| 145 | Insulinoma | Enrichment | MEN1 | 1.80 |
| 146 | Hypoalphalipoproteinemia, primary, 2, intermediate | Enrichment | APOA1 | 1.80 |
| 147 | Spondyloepiphyseal dysplasia, kondo-fu type | Enrichment | MBTPS1 | 1.80 |
| 148 | Amyloidosis, hereditary systemic 3 | Enrichment | APOA1 | 1.80 |
| 149 | Wagner disease | Enrichment | VCAN | 1.80 |
| 150 | Lens subluxation | Enrichment | FBN1 | 1.80 |
| 151 | Null pituitary adenoma | Enrichment | MEN1 | 1.80 |
| 152 | Silent pituitary adenoma | Enrichment | MEN1 | 1.80 |
| 153 | Gigantism | Enrichment | MEN1 | 1.80 |
| 154 | Plasminogen deficiency, type i | Enrichment | PLG | 1.74 |
| 155 | Kallikrein, decreased urinary activity of | Enrichment | KLK1 | 1.74 |
| 156 | Silver-russell syndrome 3 | Enrichment | IGF2 | 1.74 |
| 157 | Recessive dystrophic epidermolysis bullosa | Enrichment | MMP1 | 1.74 |
| 158 | Hereditary angioedema | Enrichment | PLG | 1.74 |
| 159 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 1.74 |
| 160 | Silver-russell syndrome due to an imprinting defect of 11p15 | Enrichment | IGF2 | 1.74 |
| 161 | Silver-russell syndrome due to 11p15 microduplication | Enrichment | IGF2 | 1.74 |
| 162 | Contractural arachnodactyly, congenital | Enrichment | FBN1 | 1.63 |
| 163 | Achondroplasia | Enrichment | FBN1 | 1.63 |
| 164 | Mccune-albright syndrome | Enrichment | FBN1 | 1.63 |
| 165 | Hypercholesterolemia, familial, 2 | Enrichment | APOB | 1.63 |
| 166 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | Enrichment | FGF23 | 1.63 |
| 167 | Hypophosphatemic rickets, autosomal dominant | Enrichment | FGF23 | 1.63 |
| 168 | Megalocornea | Enrichment | CHRDL1 | 1.63 |
| 169 | Simpson-golabi-behmel syndrome, type 1 | Enrichment | GPC3 | 1.63 |
| 170 | Intellectual developmental disorder, x-linked 109 | Enrichment | SERPINA1 | 1.63 |
| 171 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.63 |
| 172 | Alzheimer disease 4 | Enrichment | APOE | 1.63 |
| 173 | Heparin cofactor ii deficiency | Enrichment | SERPIND1 | 1.63 |
| 174 | Pituitary adenoma 1, multiple types | Enrichment | MEN1 | 1.63 |
| 175 | Hypoalphalipoproteinemia, primary, 2 | Enrichment | APOA1 | 1.63 |
| 176 | Weill-marchesani syndrome 1 | Enrichment | FBN1 | 1.63 |
| 177 | Autosomal recessive cutis laxa type i | Enrichment | LTBP1 | 1.63 |
| 178 | Isolated ectopia lentis | Enrichment | FBN1 | 1.63 |
| 179 | Cellular ependymoma | Enrichment | MEN1 | 1.63 |
| 180 | Tanycytic ependymoma | Enrichment | MEN1 | 1.63 |
| 181 | Papillary ependymoma | Enrichment | MEN1 | 1.63 |
| 182 | Parathyroid adenoma | Enrichment | MEN1 | 1.63 |
| 183 | Growth hormone secreting pituitary adenoma | Enrichment | MEN1 | 1.63 |
| 184 | Spastic paraplegia 50, autosomal recessive | Enrichment | APOA1 | 1.63 |
| 185 | Aip familial isolated pituitary adenomas | Enrichment | MEN1 | 1.63 |
| 186 | Familial isolated hyperparathyroidism | Enrichment | MEN1 | 1.63 |
| 187 | Cole-carpenter syndrome | Enrichment | P4HB | 1.63 |
| 188 | Clear cell ependymoma | Enrichment | MEN1 | 1.63 |
| 189 | Genetic atypical hemolytic-uremic syndrome | Enrichment | C3 | 1.63 |
| 190 | Geleophysic dysplasia | Enrichment | FBN1 | 1.63 |
| 191 | Alopecia - intellectual disability syndrome | Enrichment | AHSG | 1.63 |
| 192 | Angioedema, hereditary, 1 | Enrichment | PLG | 1.56 |
| 193 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.56 |
| 194 | Beckwith-wiedemann syndrome due to imprinting defect of 11p15 | Enrichment | IGF2 | 1.56 |
| 195 | Kaposi sarcoma | Enrichment | IL6 | 1.50 |
| 196 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | ALB | 1.50 |
| 197 | Amelogenesis imperfecta, type iiia | Enrichment | AMTN | 1.50 |
| 198 | Hypertriglyceridemia 1 | Enrichment | APOA5 | 1.50 |
| 199 | Dowling-degos disease 1 | Enrichment | ADAM10 | 1.50 |
| 200 | Macular degeneration, age-related, 1 | Enrichment | APOE | 1.50 |
| 201 | Budd-chiari syndrome | Enrichment | F5 | 1.50 |
| 202 | Hypoalphalipoproteinemia, primary, 1 | Enrichment | APOA1 | 1.50 |
| 203 | Weill-marchesani syndrome | Enrichment | FBN1 | 1.50 |
| 204 | Retinopathy of prematurity | Enrichment | PRSS23 | 1.50 |
| 205 | Aortic aneurysm | Enrichment | FBN1 | 1.50 |
| 206 | Prolactinoma | Enrichment | MEN1 | 1.50 |
| 207 | Pregnancy loss, recurrent 1 | Enrichment | F5 | 1.50 |
| 208 | Mitral valve insufficiency | Enrichment | FBN1 | 1.50 |
| 209 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 1.50 |
| 210 | Primary hyperparathyroidism | Enrichment | MEN1 | 1.50 |
| 211 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.50 |
| 212 | Benign ependymoma | Enrichment | MEN1 | 1.50 |
| 213 | Hereditary angioedema with normal c1inh not related to f12 or plg variant | Enrichment | KNG1 | 1.50 |
| 214 | Cystic fibrosis | Enrichment | PLG, SERPINA1 | 1.46 |
| 215 | Silver-russell syndrome due to a point mutation | Enrichment | IGF2 | 1.44 |
| 216 | Alzheimer disease 2 | Enrichment | APOE | 1.41 |
| 217 | Hyperlipidemia, familial combined, 3 | Enrichment | APOB | 1.41 |
| 218 | Exudative vitreoretinopathy 1 | Enrichment | PRSS23 | 1.41 |
| 219 | Arthrogryposis, renal dysfunction, and cholestasis 1 | Enrichment | FBN1 | 1.41 |
| 220 | Norrie disease | Enrichment | PRSS23 | 1.41 |
| 221 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.41 |
| 222 | Goldberg-shprintzen syndrome | Enrichment | FBN1 | 1.41 |
| 223 | Systemic lupus erythematosus 16 | Enrichment | C4A | 1.41 |
| 224 | Type 2 diabetes mellitus | Enrichment | IL6, WFS1 | 1.36 |
| 225 | Insulin-like growth factor i | Enrichment | IGF1 | 1.34 |
| 226 | Nephrotic syndrome | Enrichment | FN1, LAMB2 | 1.34 |
| 227 | Osteogenesis imperfecta, type i | Enrichment | P4HB | 1.33 |
| 228 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.33 |
| 229 | Anterior segment dysgenesis 5 | Enrichment | BMP4 | 1.33 |
| 230 | Inguinal hernia | Enrichment | FBN1 | 1.33 |
| 231 | Lipid metabolism disorder | Enrichment | APOE | 1.33 |
| 232 | Atypical hemolytic uremic syndrome with complement gene abnormality | Enrichment | C3 | 1.33 |
| 233 | Cerebral palsy | Enrichment | F2, PROC | 1.30 |
| 234 | Hemihyperplasia, isolated | Enrichment | IGF2 | 1.27 |
| 235 | Multiple endocrine neoplasia, type i | Enrichment | MEN1 | 1.26 |
| 236 | Brugada syndrome 1 | Enrichment | FBN1 | 1.26 |
| 237 | Coats disease | Enrichment | PRSS23 | 1.26 |
| 238 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | WFS1 | 1.26 |
| 239 | Gastrointestinal stromal tumor | Enrichment | MEN1 | 1.26 |
| 240 | Alzheimer's disease 1 | Enrichment | APP | 1.26 |
| 241 | Amelogenesis imperfecta type 2 | Enrichment | AMELX | 1.26 |
| 242 | Early-onset autosomal dominant alzheimer disease | Enrichment | APP | 1.26 |
| 243 | Spastic paraplegia 4, autosomal dominant | Enrichment | FGG | 1.21 |
| 244 | Orthostatic intolerance | Enrichment | FBN1 | 1.21 |
| 245 | Exudative vitreoretinopathy | Enrichment | PRSS23 | 1.21 |
| 246 | Silver-russell syndrome 1 | Enrichment | IGF2 | 1.20 |
| 247 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | TNC, WFS1 | 1.19 |
| 248 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.16 |
| 249 | Coronary heart disease 5 | Enrichment | APOB | 1.16 |
| 250 | Loeys-dietz syndrome | Enrichment | FBN1 | 1.16 |
| 251 | Bilateral perisylvian polymicrogyria | Enrichment | WFS1 | 1.16 |
| 252 | Familial thoracic aortic aneurysm and dissection | Enrichment | FBN1 | 1.16 |
| 253 | Marfan syndrome | Enrichment | FBN1 | 1.11 |
| 254 | Peters-plus syndrome | Enrichment | BMP4 | 1.11 |
| 255 | Neurodegeneration with brain iron accumulation | Enrichment | CP | 1.11 |
| 256 | Melanoma | Enrichment | FBN1 | 1.11 |
| 257 | Pectus excavatum | Enrichment | FBN1 | 1.07 |
| 258 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4 | 1.04 |
| 259 | 46 xx gonadal dysgenesis | Enrichment | BMP15 | 1.04 |
| 260 | Diaphragmatic hernia, congenital | Enrichment | FBN1 | 1.01 |
| 261 | Pulmonary disease, chronic obstructive | Enrichment | SERPINA1 | 1.01 |
| 262 | Multiple sclerosis | Enrichment | LAMB1 | 0.98 |
| 263 | Aortic aneurysm, familial thoracic 1 | Enrichment | FBN1 | 0.98 |
| 264 | Cleft lip/palate | Enrichment | BMP4 | 0.98 |
| 265 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2 | 0.98 |
| 266 | Corpus callosum, agenesis of | Enrichment | CDH2 | 0.95 |
| 267 | Myopia | Enrichment | FBN1 | 0.95 |
| 268 | Atypical hemolytic-uremic syndrome | Enrichment | C3 | 0.95 |
| 269 | Hermansky-pudlak syndrome | Enrichment | CP | 0.95 |
| 270 | Kidney disease | Enrichment | LAMB2 | 0.95 |
| 271 | Isolated corpus callosum agenesis | Enrichment | CDH2 | 0.95 |
| 272 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2 | 0.95 |
| 273 | Hermansky-pudlak syndrome 1 | Enrichment | CP | 0.92 |
| 274 | Perrault syndrome 1 | Enrichment | FBN1 | 0.92 |
| 275 | Hypertension | Enrichment | MEN1 | 0.92 |
| 276 | Polycystic liver disease | Enrichment | PRKCSH | 0.90 |
| 277 | Autosomal dominant polycystic liver disease | Enrichment | PRKCSH | 0.90 |
| 278 | Neuromuscular disease | Enrichment | VWA1 | 0.87 |
| 279 | Early-onset nuclear cataract | Enrichment | WFS1 | 0.87 |
| 280 | Behcet syndrome | Enrichment | C4A | 0.85 |
| 281 | Focal segmental glomerulosclerosis | Enrichment | APOL1 | 0.83 |
| 282 | Beckwith-wiedemann syndrome | Enrichment | IGF2 | 0.81 |
| 283 | Scoliosis | Enrichment | FBN1 | 0.76 |
| 284 | Auditory neuropathy | Enrichment | CDH2 | 0.73 |
| 285 | Hereditary retinal dystrophy | Enrichment | PRSS23, SPP2, VCAN, WFS1 | 0.70 |
| 286 | Fundus dystrophy | Enrichment | PRSS23, SPP2, VCAN, WFS1 | 0.70 |
| 287 | Connective tissue disease | Enrichment | FBN1 | 0.65 |
| 288 | Genetic steroid-resistant nephrotic syndrome | Enrichment | APOL1 | 0.62 |
| 289 | Non-syndromic genetic deafness | Enrichment | WFS1 | 0.60 |
| 290 | Myopathy | Enrichment | FBN1 | 0.56 |
| 291 | Nonsyndromic hearing loss | Enrichment | WFS1 | 0.54 |
| 292 | Optic atrophy plus syndrome | Enrichment | WFS1 | 0.53 |
| 293 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | FBN1 | 0.53 |
| 294 | Thrombocytopenia | Enrichment | FGG | 0.50 |
| 295 | Spastic ataxia | Enrichment | WFS1 | 0.46 |
| 296 | Hereditary breast ovarian cancer syndrome | Enrichment | MEN1 | 0.45 |
| 297 | Primary ovarian insufficiency | Enrichment | AFP | 0.42 |
| 298 | Rare genetic deafness | Enrichment | WFS1 | 0.33 |
| 299 | Dilated cardiomyopathy | Enrichment | FBN1 | 0.32 |
| 300 | Colorectal cancer | Enrichment | IGF2 | 0.26 |
| 301 | Inherited cancer-predisposing syndrome | Enrichment | MEN1 | 0.18 |