| 1 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1, DVL3, FZD2, WNT5A | 10.12 |
| 2 | Autosomal dominant robinow syndrome | Enrichment | DVL1, DVL3, FZD2, WNT5A | 10.12 |
| 3 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1, DVL3, FZD2, WNT5A | 9.60 |
| 4 | Autosomal recessive robinow syndrome | Enrichment | DVL1, DVL3, FZD2, WNT5A | 9.14 |
| 5 | Osteoporosis, juvenile | Enrichment | DKK1, WNT1, WNT3A | 8.20 |
| 6 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, FZD4, LRP5 | 6.73 |
| 7 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1, DVL3, FZD2 | 6.73 |
| 8 | Exudative vitreoretinopathy | Enrichment | CTNNB1, FZD4, LRP5 | 5.98 |
| 9 | Van buchem disease | Enrichment | LRP5, SOST | 5.45 |
| 10 | Robinow syndrome, autosomal dominant 3 | Enrichment | DVL3, FZD2 | 5.14 |
| 11 | Polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 4.91 |
| 12 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 4.91 |
| 13 | Retinopathy of prematurity | Enrichment | FZD4, LRP5 | 4.67 |
| 14 | Tooth agenesis | Enrichment | LRP6, WNT10A, WNT10B | 4.56 |
| 15 | Focal dermal hypoplasia | Enrichment | PORCN | 4.13 |
| 16 | Osteoporosis | Enrichment | LRP5, WNT1 | 3.50 |
| 17 | Macs syndrome | Enrichment | PORCN, WNT7B | 3.18 |
| 18 | Brittle bone disorder | Enrichment | LRP5, WNT1 | 3.06 |
| 19 | Brachydactyly, type b1 | Enrichment | ROR2 | 2.72 |
| 20 | Chiari malformation type i | Enrichment | DKK1 | 2.72 |
| 21 | Endosteal hyperostosis, autosomal dominant | Enrichment | LRP5 | 2.72 |
| 22 | Craniodiaphyseal dysplasia, autosomal dominant | Enrichment | SOST | 2.72 |
| 23 | Bone mineral density quantitative trait locus 1 | Enrichment | LRP5 | 2.72 |
| 24 | Exudative vitreoretinopathy 4 | Enrichment | LRP5 | 2.72 |
| 25 | Sclerosteosis 1 | Enrichment | SOST | 2.72 |
| 26 | Congenital disorder of glycosylation, type iir | Enrichment | ATP6AP2 | 2.72 |
| 27 | Omodysplasia 2 | Enrichment | FZD2 | 2.72 |
| 28 | Tooth agenesis, selective, 7 | Enrichment | LRP6 | 2.72 |
| 29 | Exudative vitreoretinopathy 8 | Enrichment | LRP6 | 2.72 |
| 30 | Parkinsonism with spasticity, x-linked | Enrichment | ATP6AP2 | 2.72 |
| 31 | Intellectual developmental disorder, x-linked, syndromic, hedera type | Enrichment | ATP6AP2 | 2.72 |
| 32 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | Enrichment | RSPO1 | 2.72 |
| 33 | Osteoporosis-pseudoglioma syndrome | Enrichment | LRP5 | 2.72 |
| 34 | Coronary artery disease, autosomal dominant 2 | Enrichment | LRP6 | 2.72 |
| 35 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.72 |
| 36 | Polycystic liver disease 4 with or without kidney cysts | Enrichment | LRP5 | 2.72 |
| 37 | Santos syndrome | Enrichment | WNT7A | 2.72 |
| 38 | Microphthalmia/coloboma 11 | Enrichment | FZD5 | 2.72 |
| 39 | Lrp5-related primary osteoporosis | Enrichment | LRP5 | 2.72 |
| 40 | Palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome | Enrichment | RSPO1 | 2.72 |
| 41 | Syndromic x-linked intellectual disability hedera type | Enrichment | ATP6AP2 | 2.72 |
| 42 | Osteosclerosis-developmental delay-craniosynostosis syndrome | Enrichment | LRP5 | 2.72 |
| 43 | Mullerian aplasia and hyperandrogenism | Enrichment | WNT4 | 2.72 |
| 44 | Microphthalmia, syndromic 8 | Enrichment | SNX3 | 2.72 |
| 45 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | Enrichment | WNT4 | 2.72 |
| 46 | Split-hand/foot malformation 6 | Enrichment | WNT10B | 2.72 |
| 47 | Tooth agenesis, selective, 8 | Enrichment | WNT10B | 2.72 |
| 48 | Parkinson disease 17 | Enrichment | VPS35 | 2.72 |
| 49 | Diarrhea 9 | Enrichment | WNT2B | 2.72 |
| 50 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.70 |
| 51 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.70 |
| 52 | Nail disorder, nonsyndromic congenital, 1 | Enrichment | FZD6 | 2.56 |
| 53 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.56 |
| 54 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.56 |
| 55 | Nephronophthisis | Enrichment | INVS, NPHP3-ACAD11 | 2.44 |
| 56 | Craniodiaphyseal dysplasia | Enrichment | SOST | 2.42 |
| 57 | Ulna and fibula, absence of, with severe limb deficiency | Enrichment | WNT7A | 2.42 |
| 58 | Bladder exstrophy and epispadias complex | Enrichment | WNT3 | 2.42 |
| 59 | Tetraamelia syndrome 1 | Enrichment | WNT3 | 2.42 |
| 60 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 2.42 |
| 61 | Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly | Enrichment | WNT7A | 2.42 |
| 62 | Sclerosteosis | Enrichment | SOST | 2.42 |
| 63 | Osteosclerosis | Enrichment | LRP5 | 2.42 |
| 64 | Bladder exstrophy-epispadias-cloacal exstrophy complex | Enrichment | WNT3 | 2.42 |
| 65 | Tooth agenesis, selective, 4 | Enrichment | WNT10A | 2.42 |
| 66 | Schopf-schulz-passarge syndrome | Enrichment | WNT10A | 2.42 |
| 67 | Odontoonychodermal dysplasia | Enrichment | WNT10A | 2.42 |
| 68 | Zaki syndrome | Enrichment | WLS | 2.42 |
| 69 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.40 |
| 70 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.40 |
| 71 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 2.40 |
| 72 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.40 |
| 73 | Teratoma | Enrichment | CTNNB1 | 2.40 |
| 74 | Spinocerebellar ataxia, autosomal recessive 24 | Enrichment | NPHP3-ACAD11 | 2.26 |
| 75 | Microphthalmia, syndromic 9 | Enrichment | WNT7B | 2.24 |
| 76 | Osteopetrosis, autosomal dominant 1 | Enrichment | LRP5 | 2.24 |
| 77 | Tetraamelia syndrome | Enrichment | WNT3 | 2.24 |
| 78 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | WNT4 | 2.24 |
| 79 | Tooth agenesis, selective, 2 | Enrichment | WNT10A | 2.24 |
| 80 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.22 |
| 81 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.22 |
| 82 | Anus, imperforate | Enrichment | CTNNB1 | 2.22 |
| 83 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.22 |
| 84 | Desmoid tumor | Enrichment | CTNNB1 | 2.22 |
| 85 | Barrett esophagus | Enrichment | CTHRC1 | 2.12 |
| 86 | Orofacial cleft | Enrichment | LRP6 | 2.12 |
| 87 | Eyelid coloboma | Enrichment | FZD5 | 2.12 |
| 88 | Vitreoretinopathy | Enrichment | LRP5 | 2.12 |
| 89 | Orofacial clefting syndrome | Enrichment | LRP6 | 2.12 |
| 90 | Lens coloboma | Enrichment | FZD5 | 2.12 |
| 91 | Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | WNT10A | 2.12 |
| 92 | Ectodermal dysplasia | Enrichment | WNT10A | 2.12 |
| 93 | Glioma | Enrichment | VPS35 | 2.12 |
| 94 | Pilomatrixoma | Enrichment | CTNNB1 | 2.10 |
| 95 | Alazami syndrome | Enrichment | CTNNB1 | 2.10 |
| 96 | Craniopharyngioma | Enrichment | CTNNB1 | 2.10 |
| 97 | Meckel syndrome, type 7 | Enrichment | NPHP3-ACAD11 | 2.09 |
| 98 | Nephronophthisis 2 | Enrichment | INVS | 2.09 |
| 99 | Nephronophthisis 3 | Enrichment | NPHP3-ACAD11 | 2.09 |
| 100 | Developmental and epileptic encephalopathy 44 | Enrichment | NPHP3-ACAD11 | 2.09 |
| 101 | Nail disease | Enrichment | FZD6 | 2.09 |
| 102 | Renal-hepatic-pancreatic dysplasia | Enrichment | NPHP3-ACAD11 | 2.09 |
| 103 | Norrie disease | Enrichment | FZD4 | 2.02 |
| 104 | Persistent hyperplastic primary vitreous | Enrichment | FZD4 | 2.02 |
| 105 | Coloboma of choroid and retina | Enrichment | FZD5 | 2.02 |
| 106 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | Enrichment | WNT10A | 2.02 |
| 107 | Renal-hepatic-pancreatic dysplasia 1 | Enrichment | NPHP3-ACAD11 | 1.96 |
| 108 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DVL2 | 1.96 |
| 109 | Coloboma of optic nerve | Enrichment | FZD5 | 1.94 |
| 110 | Renal dysplasia, cystic | Enrichment | WNT9B | 1.94 |
| 111 | Renal hypoplasia | Enrichment | WNT9B | 1.94 |
| 112 | Diarrhea | Enrichment | WNT2B | 1.94 |
| 113 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.92 |
| 114 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.92 |
| 115 | Coats disease | Enrichment | FZD4 | 1.87 |
| 116 | Gallbladder cancer | Enrichment | CTNNB1 | 1.86 |
| 117 | Renal hypodysplasia/aplasia 1 | Enrichment | WNT9B | 1.82 |
| 118 | Isolated split hand-split foot malformation | Enrichment | WNT10B | 1.82 |
| 119 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.79 |
| 120 | Multicystic kidney dysplasia | Enrichment | FZD3 | 1.79 |
| 121 | Multicystic dysplastic kidney | Enrichment | FZD3 | 1.79 |
| 122 | Renal agenesis, bilateral | Enrichment | WNT9B | 1.77 |
| 123 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.75 |
| 124 | Cat eye syndrome | Enrichment | FZD5 | 1.72 |
| 125 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.67 |
| 126 | Infantile nephronophthisis | Enrichment | INVS | 1.67 |
| 127 | Colorectal cancer | Enrichment | CTNNB1, FZD3 | 1.63 |
| 128 | Microphthalmia/coloboma 12 | Enrichment | FZD5 | 1.61 |
| 129 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 1.61 |
| 130 | Chronic kidney disease | Enrichment | WNT9B | 1.61 |
| 131 | Medulloblastoma | Enrichment | CTNNB1 | 1.56 |
| 132 | Coloboma of macula | Enrichment | FZD5 | 1.55 |
| 133 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 1.55 |
| 134 | Senior-loken syndrome 1 | Enrichment | INVS | 1.46 |
| 135 | Hydrocephalus | Enrichment | FZD3 | 1.40 |
| 136 | Hepatoblastoma | Enrichment | CTNNB1 | 1.39 |
| 137 | Microphthalmia | Enrichment | WNT7B | 1.38 |
| 138 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 1.37 |
| 139 | Parkinson disease, late-onset | Enrichment | VPS35 | 1.35 |
| 140 | Polycystic kidney disease | Enrichment | NPHP3-ACAD11 | 1.32 |
| 141 | Developmental and epileptic encephalopathy 1 | Enrichment | CSNK1E | 1.31 |
| 142 | Bladder cancer | Enrichment | CTNNB1 | 1.25 |
| 143 | Hydrops fetalis, nonimmune | Enrichment | FZD6 | 1.16 |
| 144 | Fetal akinesia deformation sequence 1 | Enrichment | ROR2 | 1.16 |
| 145 | Distal arthrogryposis | Enrichment | ROR2 | 1.11 |
| 146 | Non-immune hydrops fetalis | Enrichment | FZD6 | 1.09 |
| 147 | West syndrome | Enrichment | CSNK1E | 1.08 |
| 148 | Developmental and epileptic encephalopathy | Enrichment | NPHP3-ACAD11 | 1.03 |
| 149 | Hereditary retinal dystrophy | Enrichment | FZD4, LRP5 | 0.98 |
| 150 | Fundus dystrophy | Enrichment | FZD4, LRP5 | 0.98 |
| 151 | Optic atrophy plus syndrome | Enrichment | NPHP3-ACAD11 | 0.95 |
| 152 | Joubert syndrome 1 | Enrichment | NPHP3-ACAD11 | 0.89 |
| 153 | Breast cancer | Enrichment | JUN | 0.86 |
| 154 | Ovarian cancer | Enrichment | CTNNB1 | 0.74 |
| 155 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.72 |
| 156 | Nervous system disease | Enrichment | CTNNB1 | 0.72 |
| 157 | Microcephaly | Enrichment | CTNNB1 | 0.66 |
| 158 | Complex neurodevelopmental disorder | Enrichment | PPP2CA | 0.66 |