| 1 | Osteoporosis, juvenile | Enrichment | WNT1, WNT3A | 4.25 |
| 2 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A, CAMK2B, PPP3CA, TCF4 | 4.19 |
| 3 | Robinow syndrome, autosomal dominant 1 | Enrichment | FZD2, WNT5A | 3.95 |
| 4 | Autosomal dominant robinow syndrome | Enrichment | FZD2, WNT5A | 3.95 |
| 5 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, FZD4 | 3.73 |
| 6 | Robinow syndrome, autosomal recessive 1 | Enrichment | FZD2, WNT5A | 3.73 |
| 7 | Autosomal recessive robinow syndrome | Enrichment | FZD2, WNT5A | 3.56 |
| 8 | Exudative vitreoretinopathy | Enrichment | CTNNB1, FZD4 | 3.29 |
| 9 | Microcephaly | Enrichment | CAMK2B, CTNNB1, MAPK1, TCF4 | 2.70 |
| 10 | Mullerian aplasia and hyperandrogenism | Enrichment | WNT4 | 2.36 |
| 11 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | Enrichment | WNT4 | 2.36 |
| 12 | Omodysplasia 2 | Enrichment | FZD2 | 2.36 |
| 13 | Muscular dystrophy-dystroglycanopathy , type a, 9 | Enrichment | DAG1 | 2.36 |
| 14 | Amyotrophic lateral sclerosis 18 | Enrichment | PFN1 | 2.36 |
| 15 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.36 |
| 16 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.36 |
| 17 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.36 |
| 18 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.36 |
| 19 | Developmental and epileptic encephalopathy 91 | Enrichment | PPP3CA | 2.36 |
| 20 | Intellectual developmental disorder, autosomal dominant 54 | Enrichment | CAMK2B | 2.36 |
| 21 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | Enrichment | PPP3CA | 2.36 |
| 22 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.36 |
| 23 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.36 |
| 24 | Santos syndrome | Enrichment | WNT7A | 2.36 |
| 25 | Microphthalmia/coloboma 11 | Enrichment | FZD5 | 2.36 |
| 26 | Muscular dystrophy-dystroglycanopathy , type c, 9 | Enrichment | DAG1 | 2.36 |
| 27 | Corneal dystrophy, fuchs endothelial, 3 | Enrichment | TCF4 | 2.36 |
| 28 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.36 |
| 29 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.36 |
| 30 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.36 |
| 31 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.36 |
| 32 | Intellectual developmental disorder, autosomal dominant 59 | Enrichment | CAMK2G | 2.36 |
| 33 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.36 |
| 34 | Nocarh syndrome | Enrichment | CDC42 | 2.36 |
| 35 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | Enrichment | DAG1 | 2.36 |
| 36 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.36 |
| 37 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.36 |
| 38 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 2.06 |
| 39 | Scoliosis, isolated 1 | Enrichment | MAPK7 | 2.06 |
| 40 | Tooth agenesis, selective, 4 | Enrichment | WNT10A | 2.06 |
| 41 | Schopf-schulz-passarge syndrome | Enrichment | WNT10A | 2.06 |
| 42 | Ulna and fibula, absence of, with severe limb deficiency | Enrichment | WNT7A | 2.06 |
| 43 | Bladder exstrophy and epispadias complex | Enrichment | WNT3 | 2.06 |
| 44 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.06 |
| 45 | Odontoonychodermal dysplasia | Enrichment | WNT10A | 2.06 |
| 46 | Tetraamelia syndrome 1 | Enrichment | WNT3 | 2.06 |
| 47 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 2.06 |
| 48 | Robinow syndrome, autosomal dominant 3 | Enrichment | FZD2 | 2.06 |
| 49 | Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly | Enrichment | WNT7A | 2.06 |
| 50 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.06 |
| 51 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.06 |
| 52 | Split hand-foot malformation | Enrichment | LEF1 | 2.06 |
| 53 | Immune system disease | Enrichment | CDC42 | 2.06 |
| 54 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.06 |
| 55 | Teratoma | Enrichment | CTNNB1 | 2.06 |
| 56 | Bladder exstrophy-epispadias-cloacal exstrophy complex | Enrichment | WNT3 | 2.06 |
| 57 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.89 |
| 58 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | WNT4 | 1.89 |
| 59 | Microphthalmia, syndromic 9 | Enrichment | WNT7B | 1.89 |
| 60 | Tooth agenesis, selective, 2 | Enrichment | WNT10A | 1.89 |
| 61 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.89 |
| 62 | Anus, imperforate | Enrichment | CTNNB1 | 1.89 |
| 63 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.89 |
| 64 | Desmoid tumor | Enrichment | CTNNB1 | 1.89 |
| 65 | Tetraamelia syndrome | Enrichment | WNT3 | 1.89 |
| 66 | Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | WNT10A | 1.76 |
| 67 | Pitt-hopkins syndrome | Enrichment | TCF4 | 1.76 |
| 68 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.76 |
| 69 | Pilomatrixoma | Enrichment | CTNNB1 | 1.76 |
| 70 | Alazami syndrome | Enrichment | CTNNB1 | 1.76 |
| 71 | Hereditary ataxia | Enrichment | PRKCG | 1.76 |
| 72 | Ectodermal dysplasia | Enrichment | WNT10A | 1.76 |
| 73 | Retinopathy of prematurity | Enrichment | FZD4 | 1.76 |
| 74 | Craniopharyngioma | Enrichment | CTNNB1 | 1.76 |
| 75 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.76 |
| 76 | Eyelid coloboma | Enrichment | FZD5 | 1.76 |
| 77 | Lens coloboma | Enrichment | FZD5 | 1.76 |
| 78 | Norrie disease | Enrichment | FZD4 | 1.67 |
| 79 | Cholangitis, primary sclerosing | Enrichment | TCF4 | 1.67 |
| 80 | Robinow syndrome, autosomal dominant 2 | Enrichment | FZD2 | 1.67 |
| 81 | Fuchs' endothelial dystrophy | Enrichment | TCF4 | 1.67 |
| 82 | Persistent hyperplastic primary vitreous | Enrichment | FZD4 | 1.67 |
| 83 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | Enrichment | WNT10A | 1.67 |
| 84 | Coloboma of choroid and retina | Enrichment | FZD5 | 1.67 |
| 85 | Coloboma of optic nerve | Enrichment | FZD5 | 1.59 |
| 86 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.59 |
| 87 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.59 |
| 88 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.59 |
| 89 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.59 |
| 90 | Coats disease | Enrichment | FZD4 | 1.52 |
| 91 | Gallbladder cancer | Enrichment | CTNNB1 | 1.52 |
| 92 | Spastic paraplegia 4, autosomal dominant | Enrichment | TCF4 | 1.46 |
| 93 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.41 |
| 94 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.41 |
| 95 | Cat eye syndrome | Enrichment | FZD5 | 1.37 |
| 96 | Stroke, ischemic | Enrichment | PRKCH | 1.37 |
| 97 | Specific learning disability | Enrichment | MAPK1 | 1.33 |
| 98 | Epicanthus | Enrichment | TCF4 | 1.29 |
| 99 | Microphthalmia/coloboma 12 | Enrichment | FZD5 | 1.26 |
| 100 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 1.26 |
| 101 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.26 |
| 102 | Stereotypic movement disorder | Enrichment | TCF4 | 1.26 |
| 103 | Osteoporosis | Enrichment | WNT1 | 1.23 |
| 104 | Medulloblastoma | Enrichment | CTNNB1 | 1.23 |
| 105 | Walker-warburg syndrome | Enrichment | DAG1 | 1.23 |
| 106 | Coloboma of macula | Enrichment | FZD5 | 1.20 |
| 107 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 1.20 |
| 108 | Creatine phosphokinase, elevated serum | Enrichment | DAG1 | 1.17 |
| 109 | Isolated elevated serum creatine phosphokinase levels | Enrichment | DAG1 | 1.17 |
| 110 | Polycystic liver disease | Enrichment | CTNNB1 | 1.15 |
| 111 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.15 |
| 112 | Heart, malformation of | Enrichment | MAPK1 | 1.12 |
| 113 | Congenital nervous system abnormality | Enrichment | CAMK2B, CTNNB1 | 1.11 |
| 114 | Nervous system disease | Enrichment | CAMK2B, CTNNB1 | 1.11 |
| 115 | Macs syndrome | Enrichment | WNT7B | 1.08 |
| 116 | Hepatoblastoma | Enrichment | CTNNB1 | 1.06 |
| 117 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 1.04 |
| 118 | Microphthalmia | Enrichment | WNT7B | 1.04 |
| 119 | Tooth agenesis | Enrichment | WNT10A | 1.04 |
| 120 | Brittle bone disorder | Enrichment | WNT1 | 1.02 |
| 121 | Bladder cancer | Enrichment | CTNNB1 | 0.92 |
| 122 | Dystonia | Enrichment | CAMK2B | 0.85 |
| 123 | Undetermined early-onset epileptic encephalopathy | Enrichment | PPP3CA | 0.66 |
| 124 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PFN1 | 0.65 |
| 125 | Autism | Enrichment | CAMK2G | 0.57 |
| 126 | Colorectal cancer | Enrichment | CTNNB1 | 0.50 |
| 127 | Ovarian cancer | Enrichment | CTNNB1 | 0.45 |
| 128 | Autism spectrum disorder | Enrichment | TCF4 | 0.42 |
| 129 | Hereditary retinal dystrophy | Enrichment | FZD4 | 0.14 |
| 130 | Fundus dystrophy | Enrichment | FZD4 | 0.14 |