| 1 | Genetic steroid-resistant nephrotic syndrome | Enrichment | ACTN4, CD2AP, COL4A3, INF2, LAMA5, MYO1E, NPHS1, NPHS2, PAX2, PLCE1, PTPRO, TRPC6, WT1 | 10.68 |
| 2 | Nephrotic syndrome | Enrichment | COL4A3, COL4A4, COL4A5, FAT1, INF2, ITGA3, KIRREL2, LAMA5, LAMB2, LMX1B, MYO1E, NPHS1, NPHS2, PAX2, PLCE1, SMARCAL1, SYNPO, TRPC6 | 10.59 |
| 3 | Focal segmental glomerulosclerosis | Enrichment | COL4A4, COL4A5, INF2, NPHS1, NPHS2, PAX2, PLCE1, SMARCAL1, TRPC6, WT1 | 10.52 |
| 4 | Kidney disease | Enrichment | COL4A3, COL4A4, COL4A5, INF2, LAMB2, NPHS1, WT1 | 10.43 |
| 5 | Nephrotic syndrome, type 1 | Enrichment | FAT1, KIRREL2, NPHS1, NPHS2, PLCE1 | 9.31 |
| 6 | Digenic alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 6.84 |
| 7 | Hypertension | Enrichment | COL4A4, COL4A5, INF2, MYH9 | 5.90 |
| 8 | Alport syndrome 3a, autosomal dominant | Enrichment | COL4A3, COL4A4, COL4A5 | 5.85 |
| 9 | Autosomal dominant alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 5.85 |
| 10 | Alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 5.85 |
| 11 | Chronic kidney disease | Enrichment | COL4A4, COL4A5, NPHS2 | 4.40 |
| 12 | Hematuria, benign familial, 1 | Enrichment | COL4A3, COL4A4 | 4.08 |
| 13 | Osteoporosis, juvenile | Enrichment | DKK1, WNT1 | 4.08 |
| 14 | Polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 4.03 |
| 15 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 4.03 |
| 16 | Alport syndrome 2, autosomal recessive | Enrichment | COL4A3, COL4A4 | 3.78 |
| 17 | Autosomal recessive alport syndrome | Enrichment | COL4A3, COL4A4 | 3.78 |
| 18 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, LRP5 | 3.56 |
| 19 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B | 3.24 |
| 20 | Exudative vitreoretinopathy | Enrichment | CTNNB1, LRP5 | 3.12 |
| 21 | Presynaptic congenital myasthenic syndromes | Enrichment | AGRN, LAMA5 | 2.83 |
| 22 | Ovarian cancer | Enrichment | AKT1, CDKN1B, CTNNB1, WT1 | 2.69 |
| 23 | Multiple sclerosis | Enrichment | ITGB4, LAMA5 | 2.62 |
| 24 | Osteoporosis | Enrichment | LRP5, WNT1 | 2.62 |
| 25 | Atypical hemolytic-uremic syndrome | Enrichment | COL4A5, SMARCAL1 | 2.55 |
| 26 | Chiari malformation type i | Enrichment | DKK1 | 2.28 |
| 27 | Proteus syndrome | Enrichment | AKT1 | 2.28 |
| 28 | Endosteal hyperostosis, autosomal dominant | Enrichment | LRP5 | 2.28 |
| 29 | Focal segmental glomerulosclerosis 10 | Enrichment | LMX1B | 2.28 |
| 30 | Alport syndrome 1, x-linked | Enrichment | COL4A5 | 2.28 |
| 31 | Bone mineral density quantitative trait locus 1 | Enrichment | LRP5 | 2.28 |
| 32 | Exudative vitreoretinopathy 4 | Enrichment | LRP5 | 2.28 |
| 33 | Focal segmental glomerulosclerosis 1 | Enrichment | ACTN4 | 2.28 |
| 34 | Deafness, autosomal dominant 17 | Enrichment | MYH9 | 2.28 |
| 35 | Orofacial cleft 6 | Enrichment | IRF6 | 2.28 |
| 36 | Raph blood group system | Enrichment | CD151 | 2.28 |
| 37 | Popliteal pterygium syndrome | Enrichment | IRF6 | 2.28 |
| 38 | Nail-patella syndrome | Enrichment | LMX1B | 2.28 |
| 39 | Focal segmental glomerulosclerosis 2 | Enrichment | TRPC6 | 2.28 |
| 40 | Charcot-marie-tooth disease, dominant intermediate e | Enrichment | INF2 | 2.28 |
| 41 | Muscular dystrophy-dystroglycanopathy , type a, 9 | Enrichment | DAG1 | 2.28 |
| 42 | Schimke immunoosseous dysplasia | Enrichment | SMARCAL1 | 2.28 |
| 43 | Tooth agenesis, selective, 7 | Enrichment | LRP6 | 2.28 |
| 44 | Spinocerebellar ataxia 43 | Enrichment | MME | 2.28 |
| 45 | Exudative vitreoretinopathy 8 | Enrichment | LRP6 | 2.28 |
| 46 | Charcot-marie-tooth disease, axonal, type 2hh | Enrichment | JAG1 | 2.28 |
| 47 | Nephrotic syndrome, type 26 | Enrichment | LAMA5 | 2.28 |
| 48 | Intellectual developmental disorder, autosomal dominant 54 | Enrichment | CAMK2B | 2.28 |
| 49 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.28 |
| 50 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.28 |
| 51 | Osteoporosis-pseudoglioma syndrome | Enrichment | LRP5 | 2.28 |
| 52 | Coronary artery disease, autosomal dominant 2 | Enrichment | LRP6 | 2.28 |
| 53 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.28 |
| 54 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.28 |
| 55 | Polycystic liver disease 4 with or without kidney cysts | Enrichment | LRP5 | 2.28 |
| 56 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.28 |
| 57 | Meacham syndrome | Enrichment | WT1 | 2.28 |
| 58 | Epidermolysis bullosa simplex 7, with nephropathy and deafness | Enrichment | CD151 | 2.28 |
| 59 | Focal segmental glomerulosclerosis 3 | Enrichment | CD2AP | 2.28 |
| 60 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.28 |
| 61 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.28 |
| 62 | Cowden syndrome 6 | Enrichment | AKT1 | 2.28 |
| 63 | Nephrotic syndrome, type 6 | Enrichment | PTPRO | 2.28 |
| 64 | Ataxia-telangiectasia-like disorder 2 | Enrichment | PCNA | 2.28 |
| 65 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 2.28 |
| 66 | Focal segmental glomerulosclerosis 5 | Enrichment | INF2 | 2.28 |
| 67 | Muscular dystrophy-dystroglycanopathy , type c, 9 | Enrichment | DAG1 | 2.28 |
| 68 | Focal segmental glomerulosclerosis 6 | Enrichment | MYO1E | 2.28 |
| 69 | Irf6-related disorders | Enrichment | IRF6 | 2.28 |
| 70 | Autosomal dominant popliteal pterygium syndrome | Enrichment | IRF6 | 2.28 |
| 71 | Deafness, congenital heart defects, and posterior embryotoxon | Enrichment | JAG1 | 2.28 |
| 72 | Lipoid nephrosis | Enrichment | LMX1B | 2.28 |
| 73 | Bent bone dysplasia syndrome 2 | Enrichment | LAMA5 | 2.28 |
| 74 | Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization | Enrichment | MME | 2.28 |
| 75 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.28 |
| 76 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.28 |
| 77 | Lrp5-related primary osteoporosis | Enrichment | LRP5 | 2.28 |
| 78 | Charcot-marie-tooth disease type 2t | Enrichment | MME | 2.28 |
| 79 | Mme-related autosomal dominant charcot marie tooth disease type 2 | Enrichment | MME | 2.28 |
| 80 | Autosomal dominant nonsyndromic hearing loss 17 | Enrichment | MYH9 | 2.28 |
| 81 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.28 |
| 82 | Capillary leak syndrome | Enrichment | TLN1 | 2.28 |
| 83 | X-linked alport syndrome | Enrichment | COL4A5 | 2.28 |
| 84 | Familial nephrotic syndrome | Enrichment | NPHS1 | 2.28 |
| 85 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | Enrichment | DAG1 | 2.28 |
| 86 | Pax2-related disorder | Enrichment | PAX2 | 2.28 |
| 87 | Osteosclerosis-developmental delay-craniosynostosis syndrome | Enrichment | LRP5 | 2.28 |
| 88 | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome | Enrichment | CDKN1C | 2.28 |
| 89 | Premature aging | Enrichment | VIM | 2.28 |
| 90 | Lama5-related multisystemic syndrome | Enrichment | LAMA5 | 2.28 |
| 91 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.28 |
| 92 | Hepatoblastoma | Enrichment | CTNNB1, JAG1 | 2.26 |
| 93 | Tooth agenesis | Enrichment | IRF6, LRP6 | 2.22 |
| 94 | Brittle bone disorder | Enrichment | LRP5, WNT1 | 2.18 |
| 95 | Tetralogy of fallot | Enrichment | JAG1, NOTCH1 | 2.08 |
| 96 | Bladder cancer | Enrichment | CDKN1A, CTNNB1 | 1.99 |
| 97 | Papillorenal syndrome | Enrichment | PAX2 | 1.98 |
| 98 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.98 |
| 99 | Van buchem disease | Enrichment | LRP5 | 1.98 |
| 100 | Denys-drash syndrome | Enrichment | WT1 | 1.98 |
| 101 | Myasthenic syndrome, congenital, 5 | Enrichment | LAMB2 | 1.98 |
| 102 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.98 |
| 103 | Nephrotic syndrome, type 2 | Enrichment | NPHS2 | 1.98 |
| 104 | Cataract 35 | Enrichment | MYH9 | 1.98 |
| 105 | Nephrotic syndrome, type 4 | Enrichment | WT1 | 1.98 |
| 106 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | Enrichment | CLDN1 | 1.98 |
| 107 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 1.98 |
| 108 | Intellectual developmental disorder, autosomal dominant 4 | Enrichment | KIRREL3 | 1.98 |
| 109 | Frasier syndrome | Enrichment | WT1 | 1.98 |
| 110 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies | Enrichment | CDKN1C | 1.98 |
| 111 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 1.98 |
| 112 | Specific language impairment 5 | Enrichment | COL4A4 | 1.98 |
| 113 | Pierson syndrome | Enrichment | LAMB2 | 1.98 |
| 114 | Myasthenic syndrome, congenital, 12 | Enrichment | FAT1 | 1.98 |
| 115 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.98 |
| 116 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 1.98 |
| 117 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.98 |
| 118 | Nephrotic syndrome, type 5, with or without ocular abnormalities | Enrichment | LAMB2 | 1.98 |
| 119 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 1.98 |
| 120 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.98 |
| 121 | Focal segmental glomerulosclerosis 7 | Enrichment | PAX2 | 1.98 |
| 122 | Cataract 30 | Enrichment | VIM | 1.98 |
| 123 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.98 |
| 124 | Glomerulonephritis | Enrichment | COL4A4 | 1.98 |
| 125 | Pseudosarcomatous fibromatosis | Enrichment | MYH9 | 1.98 |
| 126 | Charcot-marie-tooth disease, axonal, type 2t | Enrichment | MME | 1.98 |
| 127 | 9q33.3q34.11 microdeletion syndrome | Enrichment | LMX1B | 1.98 |
| 128 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.98 |
| 129 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 1.98 |
| 130 | Van der woude syndrome | Enrichment | IRF6 | 1.98 |
| 131 | Teratoma | Enrichment | CTNNB1 | 1.98 |
| 132 | Osteosclerosis | Enrichment | LRP5 | 1.98 |
| 133 | Renal hypoplasia, bilateral | Enrichment | PAX2 | 1.98 |
| 134 | Genetic nephrotic syndrome | Enrichment | NPHS2 | 1.98 |
| 135 | Idiopathic nephrotic syndrome | Enrichment | NPHS2 | 1.98 |
| 136 | Desmoplastic small round cell tumor | Enrichment | WT1 | 1.98 |
| 137 | X-linked diffuse leiomyomatosis-alport syndrome | Enrichment | COL4A5 | 1.98 |
| 138 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.80 |
| 139 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.80 |
| 140 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | MYH9 | 1.80 |
| 141 | Van der woude syndrome 1 | Enrichment | IRF6 | 1.80 |
| 142 | Alagille syndrome 1 | Enrichment | JAG1 | 1.80 |
| 143 | Mesothelioma, malignant | Enrichment | WT1 | 1.80 |
| 144 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.80 |
| 145 | Osteopetrosis, autosomal dominant 1 | Enrichment | LRP5 | 1.80 |
| 146 | Muscular dystrophy, duchenne type | Enrichment | UTRN | 1.80 |
| 147 | Nephrotic syndrome, type 3 | Enrichment | PLCE1 | 1.80 |
| 148 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.80 |
| 149 | Anus, imperforate | Enrichment | CTNNB1 | 1.80 |
| 150 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.80 |
| 151 | Nephrotic syndrome, type 24 | Enrichment | NPHS2 | 1.80 |
| 152 | Pilarowski-bjornsson syndrome | Enrichment | COL4A3 | 1.80 |
| 153 | Developmental and epileptic encephalopathy 31b | Enrichment | DNM1 | 1.80 |
| 154 | Alport syndrome 3b, autosomal recessive | Enrichment | COL4A3 | 1.80 |
| 155 | Desmoid tumor | Enrichment | CTNNB1 | 1.80 |
| 156 | Hematuria, benign familial, 2 | Enrichment | COL4A3 | 1.80 |
| 157 | Cryptogenic cirrhosis | Enrichment | KRT8 | 1.80 |
| 158 | Atypical juvenile parkinsonism | Enrichment | PODXL | 1.80 |
| 159 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.80 |
| 160 | Keratoacanthoma | Enrichment | NOTCH1 | 1.80 |
| 161 | Aniridia 1 | Enrichment | WT1 | 1.68 |
| 162 | Gaucher disease, type i | Enrichment | SCARB2 | 1.68 |
| 163 | Epilepsy, progressive myoclonic, 4, with or without renal failure | Enrichment | SCARB2 | 1.68 |
| 164 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 1.68 |
| 165 | Developmental and epileptic encephalopathy 4 | Enrichment | LMX1B | 1.68 |
| 166 | Pilomatrixoma | Enrichment | CTNNB1 | 1.68 |
| 167 | Alazami syndrome | Enrichment | CTNNB1 | 1.68 |
| 168 | Orofacial cleft | Enrichment | LRP6 | 1.68 |
| 169 | Retinopathy of prematurity | Enrichment | LRP5 | 1.68 |
| 170 | Craniopharyngioma | Enrichment | CTNNB1 | 1.68 |
| 171 | Silver-russell syndrome due to a point mutation | Enrichment | CDKN1C | 1.68 |
| 172 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.68 |
| 173 | Vitreoretinopathy | Enrichment | LRP5 | 1.68 |
| 174 | Orofacial clefting syndrome | Enrichment | LRP6 | 1.68 |
| 175 | Middle aortic syndrome | Enrichment | JAG1 | 1.68 |
| 176 | Cleft lip and alveolus | Enrichment | IRF6 | 1.68 |
| 177 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 1.58 |
| 178 | Parkinson disease 2, autosomal recessive juvenile | Enrichment | PODXL | 1.58 |
| 179 | Atrioventricular septal defect | Enrichment | SMARCAL1 | 1.58 |
| 180 | Deafness, autosomal recessive 63 | Enrichment | MYH9 | 1.58 |
| 181 | Leber congenital amaurosis 10 | Enrichment | WT1 | 1.58 |
| 182 | Myasthenic syndrome, congenital, 8 | Enrichment | AGRN | 1.58 |
| 183 | Developmental and epileptic encephalopathy 31a | Enrichment | DNM1 | 1.58 |
| 184 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.58 |
| 185 | Histiocytoid hemangioma | Enrichment | VIM | 1.58 |
| 186 | Parkin type of early-onset parkinson disease | Enrichment | PODXL | 1.58 |
| 187 | Aplasia cutis congenita | Enrichment | ITGB4 | 1.58 |
| 188 | Cleft upper lip | Enrichment | IRF6 | 1.58 |
| 189 | Thrombocytopenia | Enrichment | ITGB3, MYH9 | 1.57 |
| 190 | Microcephaly | Enrichment | CAMK2B, CTNNB1, SMARCAL1 | 1.56 |
| 191 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2B, KIRREL3 | 1.54 |
| 192 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.50 |
| 193 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4 | 1.50 |
| 194 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | WT1 | 1.50 |
| 195 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGB4 | 1.50 |
| 196 | Wilms tumor 5 | Enrichment | WT1 | 1.50 |
| 197 | Hemangioma, capillary infantile | Enrichment | MYH9 | 1.50 |
| 198 | Congenital anomalies of kidney and urinary tract 1 | Enrichment | PAX2 | 1.50 |
| 199 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.50 |
| 200 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4 | 1.50 |
| 201 | Renal hypoplasia | Enrichment | PAX2 | 1.50 |
| 202 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.50 |
| 203 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.50 |
| 204 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.50 |
| 205 | Breast adenocarcinoma | Enrichment | AKT1 | 1.50 |
| 206 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.44 |
| 207 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.44 |
| 208 | Gallbladder cancer | Enrichment | CTNNB1 | 1.44 |
| 209 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 1.44 |
| 210 | Lennox-gastaut syndrome | Enrichment | DNM1 | 1.38 |
| 211 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.38 |
| 212 | Difference of sex development | Enrichment | WT1 | 1.38 |
| 213 | Leukemia, acute lymphoblastic 3 | Enrichment | WT1 | 1.33 |
| 214 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.33 |
| 215 | Cystic kidney disease | Enrichment | PAX2 | 1.33 |
| 216 | Junctional epidermolysis bullosa | Enrichment | ITGB4 | 1.33 |
| 217 | Cowden syndrome | Enrichment | AKT1 | 1.33 |
| 218 | Cataract 30, multiple types | Enrichment | VIM | 1.29 |
| 219 | Progressive myoclonus epilepsy | Enrichment | SCARB2 | 1.29 |
| 220 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.29 |
| 221 | 46,xy complete gonadal dysgenesis | Enrichment | WT1 | 1.25 |
| 222 | Early-onset parkinson's disease | Enrichment | PODXL | 1.21 |
| 223 | Meningioma | Enrichment | AKT1 | 1.21 |
| 224 | Postsynaptic congenital myasthenic syndromes | Enrichment | AGRN | 1.21 |
| 225 | Rare genetic deafness | Enrichment | COL4A5, MYH9 | 1.18 |
| 226 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.17 |
| 227 | Microphthalmia/coloboma 12 | Enrichment | PAX2 | 1.17 |
| 228 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 1.17 |
| 229 | Neural tube defects | Enrichment | ITGB1 | 1.17 |
| 230 | Stereotypic movement disorder | Enrichment | DNM1 | 1.17 |
| 231 | Medulloblastoma | Enrichment | CTNNB1 | 1.14 |
| 232 | Myoclonic epilepsy of unverricht and lundborg | Enrichment | SCARB2 | 1.14 |
| 233 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.14 |
| 234 | Walker-warburg syndrome | Enrichment | DAG1 | 1.14 |
| 235 | Congenital myasthenic syndrome | Enrichment | AGRN | 1.14 |
| 236 | Cleft lip/palate | Enrichment | IRF6 | 1.14 |
| 237 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2 | 1.14 |
| 238 | 46,xy partial gonadal dysgenesis | Enrichment | WT1 | 1.14 |
| 239 | Isolated macular dystrophy | Enrichment | COL4A5 | 1.14 |
| 240 | Coloboma of macula | Enrichment | PAX2 | 1.11 |
| 241 | Wilms tumor 1 | Enrichment | WT1 | 1.11 |
| 242 | Corpus callosum, agenesis of | Enrichment | CDH2 | 1.11 |
| 243 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 1.11 |
| 244 | Myopia | Enrichment | COL4A4 | 1.11 |
| 245 | Isolated corpus callosum agenesis | Enrichment | CDH2 | 1.11 |
| 246 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2 | 1.11 |
| 247 | Colorectal cancer | Enrichment | AKT1, CTNNB1 | 1.11 |
| 248 | Creatine phosphokinase, elevated serum | Enrichment | DAG1 | 1.09 |
| 249 | Isolated elevated serum creatine phosphokinase levels | Enrichment | DAG1 | 1.09 |
| 250 | Isolated congenital microcephaly | Enrichment | SMARCAL1 | 1.09 |
| 251 | Cleft palate, isolated | Enrichment | IRF6 | 1.06 |
| 252 | Beckwith-wiedemann syndrome | Enrichment | CDKN1C | 1.04 |
| 253 | Heart, malformation of | Enrichment | JAG1 | 1.04 |
| 254 | Polycystic kidney disease | Enrichment | COL4A4 | 1.04 |
| 255 | Arteriovenous malformations of the brain | Enrichment | CDH2 | 1.02 |
| 256 | Behcet syndrome | Enrichment | TLR4 | 1.02 |
| 257 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | MME | 1.02 |
| 258 | Williams-beuren syndrome | Enrichment | CDKN1C | 1.00 |
| 259 | Congenital nervous system abnormality | Enrichment | CAMK2B, CTNNB1 | 0.96 |
| 260 | Nervous system disease | Enrichment | CAMK2B, CTNNB1 | 0.96 |
| 261 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 0.96 |
| 262 | Myocardial infarction | Enrichment | ITGB3 | 0.96 |
| 263 | Skin disease | Enrichment | ITGB4 | 0.96 |
| 264 | Malaria | Enrichment | CR1 | 0.94 |
| 265 | Auditory neuropathy | Enrichment | CDH2 | 0.89 |
| 266 | Severe covid-19 | Enrichment | ITGAV | 0.84 |
| 267 | Inherited cancer-predisposing syndrome | Enrichment | CDKN1B, WT1 | 0.81 |
| 268 | Cystic fibrosis | Enrichment | TGFB1 | 0.80 |
| 269 | Connective tissue disease | Enrichment | NOTCH1 | 0.80 |
| 270 | Peripheral nervous system disease | Enrichment | MME | 0.80 |
| 271 | Neuropathy | Enrichment | MME | 0.80 |
| 272 | Cakut | Enrichment | PAX2 | 0.78 |
| 273 | Dystonia | Enrichment | CAMK2B | 0.77 |
| 274 | Benign epilepsy with centrotemporal spikes | Enrichment | SCARB2 | 0.71 |
| 275 | Hereditary retinal dystrophy | Enrichment | JAG1, LRP5, PAX2 | 0.70 |
| 276 | Fundus dystrophy | Enrichment | JAG1, LRP5, PAX2 | 0.70 |
| 277 | Centralopathic epilepsy | Enrichment | SCARB2 | 0.69 |
| 278 | West syndrome | Enrichment | DNM1 | 0.68 |
| 279 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1 | 0.68 |
| 280 | Hereditary breast carcinoma | Enrichment | AKT1 | 0.68 |
| 281 | Body mass index quantitative trait locus 11 | Enrichment | MYH9 | 0.63 |
| 282 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MYH9 | 0.62 |
| 283 | Familial isolated dilated cardiomyopathy | Enrichment | VCL | 0.61 |
| 284 | Myeloma, multiple | Enrichment | FAT1 | 0.59 |
| 285 | Undetermined early-onset epileptic encephalopathy | Enrichment | DNM1 | 0.59 |
| 286 | Primary ovarian insufficiency | Enrichment | WT1 | 0.57 |
| 287 | Deafness, autosomal recessive | Enrichment | MYH9 | 0.54 |
| 288 | Autosomal recessive nonsyndromic deafness | Enrichment | MYH9 | 0.54 |
| 289 | Breast cancer | Enrichment | AKT1 | 0.48 |
| 290 | Dilated cardiomyopathy | Enrichment | VCL | 0.46 |
| 291 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MYH9 | 0.42 |