| 1 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 4.47 |
| 2 | Osteoporosis, juvenile | Enrichment | DKK1, WNT1 | 4.47 |
| 3 | Desmoid tumor | Enrichment | APC, CTNNB1 | 4.47 |
| 4 | Hepatocellular carcinoma | Enrichment | APC, AXIN1, CTNNB1 | 4.27 |
| 5 | Craniopharyngioma | Enrichment | APC, CTNNB1 | 4.17 |
| 6 | Adams-oliver syndrome | Enrichment | NOTCH1, RBPJ | 3.63 |
| 7 | Adult hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1 | 3.40 |
| 8 | Medulloblastoma | Enrichment | APC, CTNNB1 | 3.00 |
| 9 | Polycystic liver disease | Enrichment | CTNNB1, LRP6 | 2.83 |
| 10 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1, LRP6 | 2.83 |
| 11 | Breast cancer | Enrichment | APC, HNF1A, JUN | 2.68 |
| 12 | Hepatoblastoma | Enrichment | APC, CTNNB1 | 2.64 |
| 13 | Colorectal cancer | Enrichment | APC, CCND1, CTNNB1 | 2.50 |
| 14 | Chiari malformation type i | Enrichment | DKK1 | 2.47 |
| 15 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.47 |
| 16 | Hepatic adenomas, familial | Enrichment | HNF1A | 2.47 |
| 17 | Acne inversa, familial, 1 | Enrichment | NCSTN | 2.47 |
| 18 | Tooth agenesis, selective, 7 | Enrichment | LRP6 | 2.47 |
| 19 | Caudal duplication anomaly | Enrichment | AXIN1 | 2.47 |
| 20 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.47 |
| 21 | Exudative vitreoretinopathy 8 | Enrichment | LRP6 | 2.47 |
| 22 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.47 |
| 23 | Neurodevelopmental, jaw, eye, and digital syndrome | Enrichment | FBXW11 | 2.47 |
| 24 | Coronary artery disease, autosomal dominant 2 | Enrichment | LRP6 | 2.47 |
| 25 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.47 |
| 26 | Alzheimer disease 18 | Enrichment | ADAM10 | 2.47 |
| 27 | Cardiomyopathy, dilated, 1u | Enrichment | PSEN1 | 2.47 |
| 28 | Reticulate acropigmentation of kitamura | Enrichment | ADAM10 | 2.47 |
| 29 | Acne inversa, familial, 2, with or without dowling-degos disease | Enrichment | PSENEN | 2.47 |
| 30 | Type 1 diabetes mellitus 20 | Enrichment | HNF1A | 2.47 |
| 31 | Acne inversa, familial, 3 | Enrichment | PSEN1 | 2.47 |
| 32 | Okur-chung neurodevelopmental syndrome | Enrichment | CSNK2A1 | 2.47 |
| 33 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.47 |
| 34 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 2.47 |
| 35 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.47 |
| 36 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.47 |
| 37 | Familial adenomatous polyposis | Enrichment | APC | 2.47 |
| 38 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.47 |
| 39 | Gardner syndrome | Enrichment | APC | 2.47 |
| 40 | 5q22 microdeletion syndrome | Enrichment | APC | 2.47 |
| 41 | Pash syndrome | Enrichment | NCSTN | 2.47 |
| 42 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.47 |
| 43 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.47 |
| 44 | Ovarian cancer | Enrichment | APC, CTNNB1, HNF1A | 2.32 |
| 45 | Congenital nervous system abnormality | Enrichment | CREBBP, CTNNB1, PSEN1 | 2.26 |
| 46 | Nervous system disease | Enrichment | CREBBP, CTNNB1, PSEN1 | 2.26 |
| 47 | Burkitt lymphoma | Enrichment | MYC | 2.17 |
| 48 | Thumb deformity | Enrichment | CREBBP | 2.17 |
| 49 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.17 |
| 50 | Alzheimer disease 3 | Enrichment | PSEN1 | 2.17 |
| 51 | Pick disease of brain | Enrichment | PSEN1 | 2.17 |
| 52 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 2.17 |
| 53 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 2.17 |
| 54 | Houge-janssens syndrome 1 | Enrichment | PPP2R5D | 2.17 |
| 55 | Adams-oliver syndrome 3 | Enrichment | RBPJ | 2.17 |
| 56 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | Enrichment | CTBP1 | 2.17 |
| 57 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | Enrichment | DLL1 | 2.17 |
| 58 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.17 |
| 59 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.17 |
| 60 | Periampullary adenoma | Enrichment | APC | 2.17 |
| 61 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 2.17 |
| 62 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.17 |
| 63 | Hyperinsulinism due to hnf1a deficiency | Enrichment | HNF1A | 2.17 |
| 64 | Teratoma | Enrichment | CTNNB1 | 2.17 |
| 65 | Type 2 diabetes mellitus | Enrichment | HNF1A, RBPJ | 2.05 |
| 66 | Alzheimer disease 4 | Enrichment | PSEN1 | 1.99 |
| 67 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.99 |
| 68 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.99 |
| 69 | Anus, imperforate | Enrichment | CTNNB1 | 1.99 |
| 70 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.99 |
| 71 | Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | Enrichment | HNF1A | 1.99 |
| 72 | Tethered spinal cord syndrome | Enrichment | CREBBP | 1.99 |
| 73 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.99 |
| 74 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 1.99 |
| 75 | Chromophobe renal cell carcinoma | Enrichment | HNF1A | 1.99 |
| 76 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 1.99 |
| 77 | Colon adenocarcinoma | Enrichment | APC | 1.99 |
| 78 | Keratoacanthoma | Enrichment | NOTCH1 | 1.99 |
| 79 | Apc-associated polyposis conditions | Enrichment | APC | 1.99 |
| 80 | Dowling-degos disease 1 | Enrichment | ADAM10 | 1.87 |
| 81 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1 | 1.87 |
| 82 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.87 |
| 83 | Maturity-onset diabetes of the young, type 3 | Enrichment | HNF1A | 1.87 |
| 84 | Pilomatrixoma | Enrichment | CTNNB1 | 1.87 |
| 85 | Alazami syndrome | Enrichment | CTNNB1 | 1.87 |
| 86 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.87 |
| 87 | Mantle cell lymphoma | Enrichment | CCND1 | 1.87 |
| 88 | Dowling-degos disease | Enrichment | PSENEN | 1.87 |
| 89 | Orofacial cleft | Enrichment | LRP6 | 1.87 |
| 90 | Autosomal dominant robinow syndrome | Enrichment | DVL1 | 1.87 |
| 91 | Orofacial clefting syndrome | Enrichment | LRP6 | 1.87 |
| 92 | Clear cell papillary renal cell carcinoma | Enrichment | HNF1A | 1.87 |
| 93 | Myeloma, multiple | Enrichment | CCND1, CREBBP | 1.81 |
| 94 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.77 |
| 95 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.77 |
| 96 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1 | 1.77 |
| 97 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.77 |
| 98 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1 | 1.77 |
| 99 | Histiocytoid hemangioma | Enrichment | FOS | 1.77 |
| 100 | Dementia | Enrichment | PSEN1 | 1.77 |
| 101 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.70 |
| 102 | Wolf-hirschhorn syndrome | Enrichment | CTBP1 | 1.70 |
| 103 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | PSEN1 | 1.70 |
| 104 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP | 1.70 |
| 105 | Type 1 diabetes mellitus | Enrichment | HNF1A | 1.70 |
| 106 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP | 1.70 |
| 107 | Autosomal recessive robinow syndrome | Enrichment | DVL1 | 1.70 |
| 108 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.70 |
| 109 | Clear cell renal cell carcinoma | Enrichment | HNF1A | 1.70 |
| 110 | Hypertrichosis | Enrichment | CREBBP | 1.70 |
| 111 | Semantic dementia | Enrichment | PSEN1 | 1.63 |
| 112 | Gallbladder cancer | Enrichment | CTNNB1 | 1.63 |
| 113 | Early-onset autosomal dominant alzheimer disease | Enrichment | PSEN1 | 1.63 |
| 114 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.57 |
| 115 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.57 |
| 116 | Isolated split hand-split foot malformation | Enrichment | BTRC | 1.57 |
| 117 | Progressive non-fluent aphasia | Enrichment | PSEN1 | 1.52 |
| 118 | Colonic benign neoplasm | Enrichment | APC | 1.52 |
| 119 | Behavioral variant of frontotemporal dementia | Enrichment | PSEN1 | 1.52 |
| 120 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.48 |
| 121 | Frontotemporal dementia 1 | Enrichment | PSEN1 | 1.44 |
| 122 | Diabetes mellitus | Enrichment | HNF1A | 1.44 |
| 123 | Specific learning disability | Enrichment | MAPK1 | 1.44 |
| 124 | Digeorge syndrome | Enrichment | HNF1A | 1.40 |
| 125 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.36 |
| 126 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 1.36 |
| 127 | Alzheimer's disease | Enrichment | PSEN1 | 1.36 |
| 128 | Osteoporosis | Enrichment | WNT1 | 1.33 |
| 129 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.33 |
| 130 | Heart disease | Enrichment | CREBBP | 1.33 |
| 131 | Renal cell carcinoma, nonpapillary | Enrichment | HNF1A | 1.30 |
| 132 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.30 |
| 133 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 1.30 |
| 134 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.30 |
| 135 | Rare genetic intellectual disability | Enrichment | CREBBP | 1.30 |
| 136 | Septopreoptic holoprosencephaly | Enrichment | DLL1 | 1.30 |
| 137 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.30 |
| 138 | Midline interhemispheric variant of holoprosencephaly | Enrichment | DLL1 | 1.30 |
| 139 | Microform holoprosencephaly | Enrichment | DLL1 | 1.28 |
| 140 | Lobar holoprosencephaly | Enrichment | DLL1 | 1.28 |
| 141 | Alzheimer disease, familial, 1 | Enrichment | PSEN1 | 1.25 |
| 142 | Alobar holoprosencephaly | Enrichment | DLL1 | 1.25 |
| 143 | Heart, malformation of | Enrichment | MAPK1 | 1.23 |
| 144 | Semilobar holoprosencephaly | Enrichment | DLL1 | 1.23 |
| 145 | Diffuse large b-cell lymphoma | Enrichment | CREBBP | 1.20 |
| 146 | Microcephaly | Enrichment | CTNNB1, MAPK1 | 1.19 |
| 147 | Maturity-onset diabetes of the young | Enrichment | HNF1A | 1.18 |
| 148 | Complex neurodevelopmental disorder | Enrichment | CSNK2A1, FBXW11 | 1.18 |
| 149 | Tooth agenesis | Enrichment | LRP6 | 1.14 |
| 150 | Skin disease | Enrichment | NCSTN | 1.14 |
| 151 | Brittle bone disorder | Enrichment | WNT1 | 1.12 |
| 152 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 1.12 |
| 153 | Scoliosis | Enrichment | CREBBP | 1.11 |
| 154 | Tetralogy of fallot | Enrichment | NOTCH1 | 1.07 |
| 155 | Bladder cancer | Enrichment | CTNNB1 | 1.03 |
| 156 | Connective tissue disease | Enrichment | NOTCH1 | 0.99 |
| 157 | Gastric cancer | Enrichment | APC | 0.87 |
| 158 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1 | 0.86 |
| 159 | Hereditary breast carcinoma | Enrichment | APC | 0.86 |
| 160 | Autosomal dominant non-syndromic intellectual disability | Enrichment | DLL1 | 0.81 |
| 161 | Familial isolated dilated cardiomyopathy | Enrichment | PSEN1 | 0.78 |
| 162 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PSEN1 | 0.75 |
| 163 | Autism | Enrichment | CREBBP | 0.66 |
| 164 | Autism spectrum disorder | Enrichment | CSNK2A1 | 0.51 |
| 165 | Inherited cancer-predisposing syndrome | Enrichment | APC | 0.44 |