| 1 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, FZD4, LRP5 | 5.40 |
| 2 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2, ITGA2B, ITGB3 | 5.10 |
| 3 | Exudative vitreoretinopathy | Enrichment | CTNNB1, FZD4, LRP5 | 4.66 |
| 4 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.26 |
| 5 | Alzheimer's disease | Enrichment | APOE, APP, MAPT | 3.96 |
| 6 | Osteoporosis | Enrichment | LRP5, SRC, WNT1 | 3.86 |
| 7 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 3.79 |
| 8 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGA2B, ITGB3 | 3.79 |
| 9 | Osteoporosis, juvenile | Enrichment | DKK1, WNT1 | 3.79 |
| 10 | Desmoid tumor | Enrichment | APC, CTNNB1 | 3.79 |
| 11 | Alzheimer disease, familial, 1 | Enrichment | APOE, APP, MAPT | 3.60 |
| 12 | Polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 3.60 |
| 13 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 3.60 |
| 14 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1, FZD2 | 3.49 |
| 15 | Retinopathy of prematurity | Enrichment | FZD4, LRP5 | 3.49 |
| 16 | Craniopharyngioma | Enrichment | APC, CTNNB1 | 3.49 |
| 17 | Autosomal dominant robinow syndrome | Enrichment | DVL1, FZD2 | 3.49 |
| 18 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1, FZD2 | 3.27 |
| 19 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1, FZD2 | 3.27 |
| 20 | Coloboma of choroid and retina | Enrichment | ACTG1, FZD5 | 3.27 |
| 21 | Hepatocellular carcinoma | Enrichment | APC, AXIN1, CTNNB1 | 3.25 |
| 22 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6, ITGB4 | 3.09 |
| 23 | Autosomal recessive robinow syndrome | Enrichment | DVL1, FZD2 | 3.09 |
| 24 | Glanzmann thrombasthenia 1 | Enrichment | ITGA2B, ITGB3 | 2.95 |
| 25 | Adult hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1 | 2.72 |
| 26 | Junctional epidermolysis bullosa | Enrichment | ITGA6, ITGB4 | 2.72 |
| 27 | Cat eye syndrome | Enrichment | ACTG1, FZD5 | 2.62 |
| 28 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGA2B, ITGB3 | 2.62 |
| 29 | Colorectal cancer | Enrichment | APC, CTNNB1, FZD3, SRC | 2.40 |
| 30 | Medulloblastoma | Enrichment | APC, CTNNB1 | 2.33 |
| 31 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1, ITGA7 | 2.27 |
| 32 | Thrombocytopenia | Enrichment | ITGA2B, ITGB3, SRC | 2.26 |
| 33 | Arthritis, sacroiliac | Enrichment | RELN | 2.13 |
| 34 | Chiari malformation type i | Enrichment | DKK1 | 2.13 |
| 35 | Fibrosis of extraocular muscles, congenital, 1 | Enrichment | KIF21A | 2.13 |
| 36 | Charcot-marie-tooth disease, axonal, type 2a1 | Enrichment | KIF1B | 2.13 |
| 37 | Endosteal hyperostosis, autosomal dominant | Enrichment | LRP5 | 2.13 |
| 38 | Nail disorder, nonsyndromic congenital, 1 | Enrichment | FZD6 | 2.13 |
| 39 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.13 |
| 40 | Sea-blue histiocyte disease | Enrichment | APOE | 2.13 |
| 41 | Bone mineral density quantitative trait locus 1 | Enrichment | LRP5 | 2.13 |
| 42 | Exudative vitreoretinopathy 4 | Enrichment | LRP5 | 2.13 |
| 43 | Systemic lupus erythematosus 6 | Enrichment | ITGAM | 2.13 |
| 44 | Spinocerebellar ataxia 12 | Enrichment | PPP2R2B | 2.13 |
| 45 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.13 |
| 46 | Omodysplasia 2 | Enrichment | FZD2 | 2.13 |
| 47 | Lipoprotein glomerulopathy | Enrichment | APOE | 2.13 |
| 48 | Tooth agenesis, selective, 7 | Enrichment | LRP6 | 2.13 |
| 49 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.13 |
| 50 | Caudal duplication anomaly | Enrichment | AXIN1 | 2.13 |
| 51 | Neuroblastoma 1 | Enrichment | KIF1B | 2.13 |
| 52 | Lissencephaly 7 with cerebellar hypoplasia | Enrichment | CDK5 | 2.13 |
| 53 | Cortical dysplasia, complex, with other brain malformations 3 | Enrichment | KIF2A | 2.13 |
| 54 | Exudative vitreoretinopathy 8 | Enrichment | LRP6 | 2.13 |
| 55 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.13 |
| 56 | Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development | Enrichment | PTPA | 2.13 |
| 57 | Houge-janssens syndrome 4 | Enrichment | PPP2R5C | 2.13 |
| 58 | Fetomaternal alloimmune thrombocytopenia 2 | Enrichment | ITGA2B | 2.13 |
| 59 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.13 |
| 60 | Parkinson-dementia syndrome | Enrichment | MAPT | 2.13 |
| 61 | Supranuclear palsy, progressive, 1 | Enrichment | MAPT | 2.13 |
| 62 | Osteoporosis-pseudoglioma syndrome | Enrichment | LRP5 | 2.13 |
| 63 | Coronary artery disease, autosomal dominant 2 | Enrichment | LRP6 | 2.13 |
| 64 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.13 |
| 65 | Houge-janssens syndrome 2 | Enrichment | PPP2R1A | 2.13 |
| 66 | Progressive supranuclear palsy | Enrichment | MAPT | 2.13 |
| 67 | Polycystic liver disease 4 with or without kidney cysts | Enrichment | LRP5 | 2.13 |
| 68 | Cerebral amyloid angiopathy, app-related | Enrichment | APP | 2.13 |
| 69 | Becker nevus syndrome | Enrichment | ACTB | 2.13 |
| 70 | Ocular motility disease | Enrichment | KIF21A | 2.13 |
| 71 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.13 |
| 72 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.13 |
| 73 | Charcot-marie-tooth disease type 2a1 | Enrichment | KIF1B | 2.13 |
| 74 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.13 |
| 75 | Spinocerebellar ataxia 37 | Enrichment | DAB1 | 2.13 |
| 76 | Synovitis | Enrichment | RELN | 2.13 |
| 77 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.13 |
| 78 | Microphthalmia/coloboma 11 | Enrichment | FZD5 | 2.13 |
| 79 | Thrombocytopenia 6 | Enrichment | SRC | 2.13 |
| 80 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.13 |
| 81 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.13 |
| 82 | Classic progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.13 |
| 83 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 2.13 |
| 84 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.13 |
| 85 | Amelogenesis imperfecta, type ih | Enrichment | ITGB6 | 2.13 |
| 86 | Baraitser-winter syndrome | Enrichment | ACTB | 2.13 |
| 87 | Cerebellar hypoplasia | Enrichment | VLDLR | 2.13 |
| 88 | Atypical progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.13 |
| 89 | Lrp5-related primary osteoporosis | Enrichment | LRP5 | 2.13 |
| 90 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 2.13 |
| 91 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.13 |
| 92 | Familial adenomatous polyposis | Enrichment | APC | 2.13 |
| 93 | Zebra body myopathy | Enrichment | ACTA1 | 2.13 |
| 94 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.13 |
| 95 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.13 |
| 96 | Gardner syndrome | Enrichment | APC | 2.13 |
| 97 | Osteosclerosis-developmental delay-craniosynostosis syndrome | Enrichment | LRP5 | 2.13 |
| 98 | 5q22 microdeletion syndrome | Enrichment | APC | 2.13 |
| 99 | Ppp2r1a-related neurodevelopmental disorder | Enrichment | PPP2R1A | 2.13 |
| 100 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.13 |
| 101 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.13 |
| 102 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.13 |
| 103 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.13 |
| 104 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.13 |
| 105 | Lissencephaly | Enrichment | ACTG1, RELN | 1.98 |
| 106 | Hepatoblastoma | Enrichment | APC, CTNNB1 | 1.98 |
| 107 | Myocardial infarction | Enrichment | ITGB3, LRP8 | 1.94 |
| 108 | Brittle bone disorder | Enrichment | LRP5, WNT1 | 1.90 |
| 109 | Cerebral amyloid angiopathy, cst3-related | Enrichment | APP | 1.83 |
| 110 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 1.83 |
| 111 | Van buchem disease | Enrichment | LRP5 | 1.83 |
| 112 | Bladder exstrophy and epispadias complex | Enrichment | WNT3 | 1.83 |
| 113 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.83 |
| 114 | Alzheimer disease 3 | Enrichment | APOE | 1.83 |
| 115 | Tetraamelia syndrome 1 | Enrichment | WNT3 | 1.83 |
| 116 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 1.83 |
| 117 | Pick disease of brain | Enrichment | MAPT | 1.83 |
| 118 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 1.83 |
| 119 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 1.83 |
| 120 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 1.83 |
| 121 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 1.83 |
| 122 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 1.83 |
| 123 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 1.83 |
| 124 | Robinow syndrome, autosomal dominant 3 | Enrichment | FZD2 | 1.83 |
| 125 | Moyamoya disease 5 | Enrichment | ACTA2 | 1.83 |
| 126 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 1.83 |
| 127 | Neurodevelopmental disorder with or without variable brain abnormalities | Enrichment | MAPK8IP3 | 1.83 |
| 128 | Hyperlipoproteinemia, type iii | Enrichment | APOE | 1.83 |
| 129 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome | Enrichment | VLDLR | 1.83 |
| 130 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 1.83 |
| 131 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.83 |
| 132 | Periampullary adenoma | Enrichment | APC | 1.83 |
| 133 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 1.83 |
| 134 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 1.83 |
| 135 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.83 |
| 136 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 1.83 |
| 137 | Arthritis | Enrichment | RELN | 1.83 |
| 138 | Teratoma | Enrichment | CTNNB1 | 1.83 |
| 139 | Osteosclerosis | Enrichment | LRP5 | 1.83 |
| 140 | Bladder exstrophy-epispadias-cloacal exstrophy complex | Enrichment | WNT3 | 1.83 |
| 141 | Intestinal obstruction | Enrichment | ACTG2 | 1.83 |
| 142 | Hydrops fetalis, nonimmune | Enrichment | ACTA1, FZD6 | 1.80 |
| 143 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.65 |
| 144 | Niemann-pick disease, type a | Enrichment | APBB1 | 1.65 |
| 145 | Osteopetrosis, autosomal dominant 1 | Enrichment | LRP5 | 1.65 |
| 146 | Alzheimer disease 4 | Enrichment | APOE | 1.65 |
| 147 | Niemann-pick disease, type b | Enrichment | APBB1 | 1.65 |
| 148 | Spastic ataxia 2, autosomal recessive | Enrichment | KIF1C | 1.65 |
| 149 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.65 |
| 150 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | Enrichment | ITGA7 | 1.65 |
| 151 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.65 |
| 152 | Epilepsy, familial temporal lobe, 7 | Enrichment | RELN | 1.65 |
| 153 | Anus, imperforate | Enrichment | CTNNB1 | 1.65 |
| 154 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.65 |
| 155 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 1.65 |
| 156 | Spastic ataxia 2 | Enrichment | KIF1C | 1.65 |
| 157 | Nail disease | Enrichment | FZD6 | 1.65 |
| 158 | Kyphosis | Enrichment | RELN | 1.65 |
| 159 | Tetraamelia syndrome | Enrichment | WNT3 | 1.65 |
| 160 | Colon adenocarcinoma | Enrichment | APC | 1.65 |
| 161 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.65 |
| 162 | Alopecia - intellectual disability syndrome | Enrichment | ITGB6 | 1.65 |
| 163 | Apc-associated polyposis conditions | Enrichment | APC | 1.65 |
| 164 | Epilepsy with auditory features | Enrichment | RELN | 1.65 |
| 165 | Non-immune hydrops fetalis | Enrichment | ACTA1, FZD6 | 1.65 |
| 166 | Lung cancer | Enrichment | ACTA2, PPP2R1B | 1.63 |
| 167 | Amelogenesis imperfecta, type iiia | Enrichment | ITGB6 | 1.53 |
| 168 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.53 |
| 169 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2 | 1.53 |
| 170 | Macular degeneration, age-related, 1 | Enrichment | APOE | 1.53 |
| 171 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.53 |
| 172 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 1.53 |
| 173 | Pilomatrixoma | Enrichment | CTNNB1 | 1.53 |
| 174 | Retinitis pigmentosa 26 | Enrichment | ITGA4 | 1.53 |
| 175 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.53 |
| 176 | Alazami syndrome | Enrichment | CTNNB1 | 1.53 |
| 177 | Orofacial cleft | Enrichment | LRP6 | 1.53 |
| 178 | Eyelid coloboma | Enrichment | FZD5 | 1.53 |
| 179 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.53 |
| 180 | Vitreoretinopathy | Enrichment | LRP5 | 1.53 |
| 181 | Orofacial clefting syndrome | Enrichment | LRP6 | 1.53 |
| 182 | Lens coloboma | Enrichment | FZD5 | 1.53 |
| 183 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.53 |
| 184 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1, KIF21A | 1.51 |
| 185 | Alzheimer disease 2 | Enrichment | APOE | 1.44 |
| 186 | Visceral myopathy 1 | Enrichment | ACTG2 | 1.44 |
| 187 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 1.44 |
| 188 | Multiple endocrine neoplasia, type iia | Enrichment | KIF1B | 1.44 |
| 189 | Niemann-pick disease, type c1 | Enrichment | APBB1 | 1.44 |
| 190 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.44 |
| 191 | Norrie disease | Enrichment | FZD4 | 1.44 |
| 192 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.44 |
| 193 | Lissencephaly 2 | Enrichment | RELN | 1.44 |
| 194 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.44 |
| 195 | Niemann-pick disease | Enrichment | APBB1 | 1.44 |
| 196 | Epidermolysis bullosa | Enrichment | ITGA6 | 1.44 |
| 197 | Persistent hyperplastic primary vitreous | Enrichment | FZD4 | 1.44 |
| 198 | Aplasia cutis congenita | Enrichment | ITGB4 | 1.44 |
| 199 | Dementia | Enrichment | MAPT | 1.44 |
| 200 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.44 |
| 201 | Distal arthrogryposis | Enrichment | ACTA1, FZD3 | 1.41 |
| 202 | Ovarian cancer | Enrichment | APC, CTNNB1, KIF1B | 1.40 |
| 203 | Coloboma of optic nerve | Enrichment | FZD5 | 1.36 |
| 204 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.36 |
| 205 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4 | 1.36 |
| 206 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | Enrichment | VLDLR | 1.36 |
| 207 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.36 |
| 208 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4 | 1.36 |
| 209 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 1.36 |
| 210 | Congenital fibrosis of the extraocular muscles | Enrichment | KIF21A | 1.36 |
| 211 | Lipid metabolism disorder | Enrichment | APOE | 1.36 |
| 212 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.36 |
| 213 | Multicystic kidney dysplasia | Enrichment | FZD3 | 1.36 |
| 214 | Typical nemaline myopathy | Enrichment | ACTA1 | 1.36 |
| 215 | Multicystic dysplastic kidney | Enrichment | FZD3 | 1.36 |
| 216 | Myelofibrosis | Enrichment | SRC | 1.29 |
| 217 | Coats disease | Enrichment | FZD4 | 1.29 |
| 218 | Semantic dementia | Enrichment | MAPT | 1.29 |
| 219 | Alzheimer's disease 1 | Enrichment | APP | 1.29 |
| 220 | Gallbladder cancer | Enrichment | CTNNB1 | 1.29 |
| 221 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 1.29 |
| 222 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.29 |
| 223 | Early-onset autosomal dominant alzheimer disease | Enrichment | APP | 1.29 |
| 224 | Renal hypodysplasia/aplasia 1 | Enrichment | ITGA8 | 1.24 |
| 225 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.24 |
| 226 | Neuroblastoma | Enrichment | KIF1B | 1.24 |
| 227 | Spastic ataxia | Enrichment | DAB1, KIF1C | 1.23 |
| 228 | Microcephaly | Enrichment | ACTB, ACTG1, CTNNB1 | 1.19 |
| 229 | Progressive non-fluent aphasia | Enrichment | MAPT | 1.19 |
| 230 | Colonic benign neoplasm | Enrichment | APC | 1.19 |
| 231 | Behavioral variant of frontotemporal dementia | Enrichment | MAPT | 1.19 |
| 232 | Renal agenesis, bilateral | Enrichment | ITGA8 | 1.19 |
| 233 | Amelogenesis imperfecta, type ie | Enrichment | ITGB6 | 1.14 |
| 234 | Nemaline myopathy | Enrichment | ACTA1 | 1.14 |
| 235 | Frontotemporal dementia 1 | Enrichment | MAPT | 1.10 |
| 236 | Microphthalmia/coloboma 12 | Enrichment | FZD5 | 1.03 |
| 237 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 1.03 |
| 238 | Neural tube defects | Enrichment | ITGB1 | 1.03 |
| 239 | Multiple sclerosis | Enrichment | ITGB4 | 1.00 |
| 240 | Lung cancer susceptibility 3 | Enrichment | ACTA2 | 1.00 |
| 241 | Isolated macular dystrophy | Enrichment | ITGA4 | 1.00 |
| 242 | Coloboma of macula | Enrichment | FZD5 | 0.97 |
| 243 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 0.97 |
| 244 | Hydrocephalus | Enrichment | FZD3 | 0.97 |
| 245 | Familial hypercholesterolemia | Enrichment | APOE | 0.97 |
| 246 | Breast cancer | Enrichment | APC, JUN | 0.97 |
| 247 | Neuromuscular disease | Enrichment | ACTA1 | 0.90 |
| 248 | Congenital myopathy | Enrichment | ACTA1 | 0.88 |
| 249 | Centronuclear myopathy | Enrichment | ACTA1 | 0.84 |
| 250 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | KIF1B | 0.84 |
| 251 | Tooth agenesis | Enrichment | LRP6 | 0.82 |
| 252 | Skin disease | Enrichment | ITGB4 | 0.82 |
| 253 | Parkinson disease, late-onset | Enrichment | MAPT | 0.78 |
| 254 | Scoliosis | Enrichment | RELN | 0.78 |
| 255 | Congenital nervous system abnormality | Enrichment | CTNNB1, VLDLR | 0.73 |
| 256 | Nervous system disease | Enrichment | CTNNB1, VLDLR | 0.73 |
| 257 | Bladder cancer | Enrichment | CTNNB1 | 0.71 |
| 258 | Severe covid-19 | Enrichment | ITGAV | 0.71 |
| 259 | Connective tissue disease | Enrichment | ACTA2 | 0.67 |
| 260 | Cakut | Enrichment | ACTG1 | 0.65 |
| 261 | Complex neurodevelopmental disorder | Enrichment | MAPK8IP3, PPP2CA | 0.63 |
| 262 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.63 |
| 263 | Systemic lupus erythematosus | Enrichment | ITGAM | 0.60 |
| 264 | Myopathy | Enrichment | ACTA1 | 0.59 |
| 265 | Benign epilepsy with centrotemporal spikes | Enrichment | RELN | 0.58 |
| 266 | Type 2 diabetes mellitus | Enrichment | MAPK8IP1 | 0.57 |
| 267 | Hereditary spastic paraplegia | Enrichment | KIF1C | 0.57 |
| 268 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.57 |
| 269 | Centralopathic epilepsy | Enrichment | RELN | 0.56 |
| 270 | Gastric cancer | Enrichment | APC | 0.56 |
| 271 | Nephrotic syndrome | Enrichment | ITGA3 | 0.56 |
| 272 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2 | 0.55 |
| 273 | Hereditary breast carcinoma | Enrichment | APC | 0.55 |
| 274 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.49 |
| 275 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MAPT | 0.45 |
| 276 | Schizophrenia | Enrichment | RELN | 0.45 |
| 277 | Hereditary retinal dystrophy | Enrichment | FZD4, ITGA4, LRP5 | 0.44 |
| 278 | Fundus dystrophy | Enrichment | FZD4, ITGA4, LRP5 | 0.44 |
| 279 | Cone-rod dystrophy 2 | Enrichment | ITGA4 | 0.40 |
| 280 | Rare genetic deafness | Enrichment | ACTG1 | 0.35 |
| 281 | Dilated cardiomyopathy | Enrichment | ACTA1 | 0.35 |
| 282 | Inherited cancer-predisposing syndrome | Enrichment | APC | 0.20 |