| 1 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1, CTNND1 | 4.93 |
| 2 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, CTNNA1 | 4.15 |
| 3 | Myopathy, centronuclear, 1 | Enrichment | BIN1, DNM2 | 3.76 |
| 4 | Cleft lip with or without cleft palate | Enrichment | CDH1, CTNND1 | 3.76 |
| 5 | Colorectal cancer | Enrichment | CDH1, CTNNA1, CTNNB1 | 2.47 |
| 6 | Nephrogenic syndrome of inappropriate antidiuresis | Enrichment | AVPR2 | 2.46 |
| 7 | Diabetes insipidus, nephrogenic, 1, x-linked | Enrichment | AVPR2 | 2.46 |
| 8 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.46 |
| 9 | Cardiac valvular dysplasia 1 | Enrichment | PLD1 | 2.46 |
| 10 | Charcot-marie-tooth disease, dominant intermediate b | Enrichment | DNM2 | 2.46 |
| 11 | Hiatt-neu-cooper neurodevelopmental syndrome | Enrichment | RALA | 2.46 |
| 12 | Bdv syndrome | Enrichment | CPE | 2.46 |
| 13 | X-linked nephrogenic diabetes insipidus | Enrichment | AVPR2 | 2.46 |
| 14 | Lethal congenital contracture syndrome 5 | Enrichment | DNM2 | 2.46 |
| 15 | Neurodevelopmental disorder with seizures and brain atrophy | Enrichment | EXOC7 | 2.46 |
| 16 | Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy | Enrichment | EXOC8 | 2.46 |
| 17 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.46 |
| 18 | Autosomal dominant charcot-marie-tooth disease type 2m | Enrichment | DNM2 | 2.46 |
| 19 | Breast lobular carcinoma | Enrichment | CDH1 | 2.46 |
| 20 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 2.46 |
| 21 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.46 |
| 22 | Cpe-related prader-willi-like syndrome | Enrichment | CPE | 2.46 |
| 23 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.46 |
| 24 | Ovarian cancer | Enrichment | CDH1, CTNNB1, TSHR | 2.29 |
| 25 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.16 |
| 26 | Lethal congenital contracture syndrome 3 | Enrichment | PIP5K1C | 2.16 |
| 27 | Hyperthyroidism, familial gestational | Enrichment | TSHR | 2.16 |
| 28 | Melanoma, cutaneous malignant 6 | Enrichment | KLC1 | 2.16 |
| 29 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 2.16 |
| 30 | Hyperproinsulinemia | Enrichment | INS | 2.16 |
| 31 | Blepharocheilodontic syndrome 2 | Enrichment | CTNND1 | 2.16 |
| 32 | Neurodevelopmental disorder with or without variable brain abnormalities | Enrichment | MAPK8IP3 | 2.16 |
| 33 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 2.16 |
| 34 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.16 |
| 35 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 2.16 |
| 36 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.16 |
| 37 | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | Enrichment | EXOC2 | 2.16 |
| 38 | Teratoma | Enrichment | CTNNB1 | 2.16 |
| 39 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.98 |
| 40 | Type 1 diabetes mellitus 2 | Enrichment | INS | 1.98 |
| 41 | Myopathy, centronuclear, x-linked | Enrichment | DNM2 | 1.98 |
| 42 | Hyperthyroidism, nonautoimmune | Enrichment | TSHR | 1.98 |
| 43 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.98 |
| 44 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | Enrichment | ITGA7 | 1.98 |
| 45 | Anus, imperforate | Enrichment | CTNNB1 | 1.98 |
| 46 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.98 |
| 47 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 1.98 |
| 48 | Hypothyroidism, congenital, nongoitrous, 1 | Enrichment | TSHR | 1.98 |
| 49 | Intellectual developmental disorder, autosomal dominant 56 | Enrichment | CLTC | 1.98 |
| 50 | Desmoid tumor | Enrichment | CTNNB1 | 1.98 |
| 51 | Nephrogenic diabetes insipidus | Enrichment | AVPR2 | 1.98 |
| 52 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 1.98 |
| 53 | Familial hyperthyroidism due to mutations in tsh receptor | Enrichment | TSHR | 1.98 |
| 54 | Myopathy, centronuclear, 2 | Enrichment | BIN1 | 1.86 |
| 55 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 1.86 |
| 56 | Smith-lemli-opitz syndrome | Enrichment | TSHR | 1.86 |
| 57 | Pilomatrixoma | Enrichment | CTNNB1 | 1.86 |
| 58 | Retinitis pigmentosa 26 | Enrichment | ITGA4 | 1.86 |
| 59 | Alazami syndrome | Enrichment | CTNNB1 | 1.86 |
| 60 | Neonatal diabetes mellitus | Enrichment | INS | 1.86 |
| 61 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | Enrichment | CLTC | 1.86 |
| 62 | Craniopharyngioma | Enrichment | CTNNB1 | 1.86 |
| 63 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.76 |
| 64 | Epidermolysis bullosa | Enrichment | ITGA6 | 1.76 |
| 65 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.69 |
| 66 | Type 1 diabetes mellitus | Enrichment | INS | 1.69 |
| 67 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6 | 1.69 |
| 68 | Renal tubular dysgenesis | Enrichment | AGTR1 | 1.69 |
| 69 | Inflammatory myofibroblastic tumor | Enrichment | CLTC | 1.69 |
| 70 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.69 |
| 71 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2 | 1.69 |
| 72 | Hypothyroidism, congenital, nongoitrous, 2 | Enrichment | TSHR | 1.62 |
| 73 | Noonan syndrome 3 | Enrichment | CLTC | 1.62 |
| 74 | Renal cell carcinoma with mit translocations | Enrichment | CLTC | 1.62 |
| 75 | Gallbladder cancer | Enrichment | CTNNB1 | 1.62 |
| 76 | Renal hypodysplasia/aplasia 1 | Enrichment | ITGA8 | 1.56 |
| 77 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.56 |
| 78 | Permanent neonatal diabetes mellitus | Enrichment | INS | 1.56 |
| 79 | Breast cancer | Enrichment | CDH1, KLC1 | 1.56 |
| 80 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.51 |
| 81 | Junctional epidermolysis bullosa | Enrichment | ITGA6 | 1.51 |
| 82 | Renal agenesis, bilateral | Enrichment | ITGA8 | 1.51 |
| 83 | Diabetes mellitus | Enrichment | INS | 1.43 |
| 84 | Congenital hypothyroidism | Enrichment | TSHR | 1.39 |
| 85 | Neural tube defects | Enrichment | ITGB1 | 1.36 |
| 86 | Medulloblastoma | Enrichment | CTNNB1 | 1.32 |
| 87 | Cleft lip/palate | Enrichment | CDH1 | 1.32 |
| 88 | Isolated macular dystrophy | Enrichment | ITGA4 | 1.32 |
| 89 | Congenital myopathy 4a, autosomal dominant | Enrichment | ITGA7 | 1.29 |
| 90 | Hypertension, essential | Enrichment | AGTR1 | 1.24 |
| 91 | Polycystic liver disease | Enrichment | CTNNB1 | 1.24 |
| 92 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.24 |
| 93 | Maturity-onset diabetes of the young | Enrichment | INS | 1.17 |
| 94 | Craniosynostosis | Enrichment | CTNNA1 | 1.17 |
| 95 | Complex neurodevelopmental disorder | Enrichment | MAPK8IP3, RALA | 1.16 |
| 96 | Endometrial cancer | Enrichment | CDH1 | 1.15 |
| 97 | Centronuclear myopathy | Enrichment | DNM2 | 1.15 |
| 98 | Hepatoblastoma | Enrichment | CTNNB1 | 1.15 |
| 99 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 1.13 |
| 100 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, CTNNA1 | 1.12 |
| 101 | Bladder cancer | Enrichment | CTNNB1 | 1.02 |
| 102 | Prostate cancer | Enrichment | CDH1 | 1.02 |
| 103 | Meckel syndrome, type 1 | Enrichment | EXOC4 | 1.02 |
| 104 | Severe covid-19 | Enrichment | ITGAV | 1.02 |
| 105 | Epilepsy | Enrichment | TSHR | 0.89 |
| 106 | Myopathy | Enrichment | DNM2 | 0.89 |
| 107 | Charcot-marie-tooth disease | Enrichment | DNM2 | 0.88 |
| 108 | Type 2 diabetes mellitus | Enrichment | SLC2A4 | 0.87 |
| 109 | Gastric cancer | Enrichment | CDH1 | 0.86 |
| 110 | Nephrotic syndrome | Enrichment | ITGA3 | 0.86 |
| 111 | Hereditary breast carcinoma | Enrichment | CDH1 | 0.85 |
| 112 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CLTC | 0.80 |
| 113 | Hereditary breast ovarian cancer syndrome | Enrichment | CTNNA1 | 0.76 |
| 114 | Undetermined early-onset epileptic encephalopathy | Enrichment | CLTC | 0.75 |
| 115 | Cone-rod dystrophy 2 | Enrichment | ITGA4 | 0.68 |
| 116 | Hereditary retinal dystrophy | Enrichment | CTNNA1, ITGA4 | 0.58 |
| 117 | Fundus dystrophy | Enrichment | CTNNA1, ITGA4 | 0.58 |
| 118 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.51 |
| 119 | Nervous system disease | Enrichment | CTNNB1 | 0.51 |
| 120 | Microcephaly | Enrichment | CTNNB1 | 0.46 |