| 1 | Cleft lip with or without cleft palate | Enrichment | CDH1, CTNND1, PLEKHA7 | 6.26 |
| 2 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1, CTNND1 | 5.03 |
| 3 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1, MET | 5.03 |
| 4 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, CTNNA1 | 4.25 |
| 5 | Colorectal cancer | Enrichment | CDH1, CTNNA1, CTNNB1, MET | 3.83 |
| 6 | Ovarian cancer | Enrichment | CDH1, CTNNB1, EGFR, MET | 3.58 |
| 7 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, EGF | 3.48 |
| 8 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, CTNNA1, EGFR, MET | 3.14 |
| 9 | Hepatocellular carcinoma | Enrichment | CTNNB1, MET | 2.68 |
| 10 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF, MET, MYO6 | 2.58 |
| 11 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.51 |
| 12 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.51 |
| 13 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.51 |
| 14 | Deafness, autosomal dominant 22 | Enrichment | MYO6 | 2.51 |
| 15 | Deafness, autosomal dominant 1, with or without thrombocytopenia | Enrichment | DIAPH1 | 2.51 |
| 16 | Osteofibrous dysplasia | Enrichment | MET | 2.51 |
| 17 | Deafness, autosomal recessive 37 | Enrichment | MYO6 | 2.51 |
| 18 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.51 |
| 19 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.51 |
| 20 | Autism 9 | Enrichment | MET | 2.51 |
| 21 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.51 |
| 22 | Deafness, autosomal recessive 123 | Enrichment | STX4 | 2.51 |
| 23 | Bleeding disorder, platelet-type, 15 | Enrichment | ACTN1 | 2.51 |
| 24 | Seizures, cortical blindness, and microcephaly syndrome | Enrichment | DIAPH1 | 2.51 |
| 25 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.51 |
| 26 | Diaph1-related sensorineural hearing loss-thrombocytopenia syndrome | Enrichment | DIAPH1 | 2.51 |
| 27 | Low density lipoprotein cholesterol level quantitative trait locus 8 | Enrichment | LIMA1 | 2.51 |
| 28 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.51 |
| 29 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.51 |
| 30 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.51 |
| 31 | Breast lobular carcinoma | Enrichment | CDH1 | 2.51 |
| 32 | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | Enrichment | MYO6 | 2.51 |
| 33 | Autosomal dominant nonsyndromic hearing loss 22 | Enrichment | MYO6 | 2.51 |
| 34 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.51 |
| 35 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.51 |
| 36 | Bladder cancer | Enrichment | CTNNB1, EGFR | 2.44 |
| 37 | Lung cancer | Enrichment | EGFR, MET | 2.36 |
| 38 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.21 |
| 39 | Palmoplantar keratoderma, bothnian type | Enrichment | AQP5 | 2.21 |
| 40 | Lethal congenital contracture syndrome 3 | Enrichment | PIP5K1C | 2.21 |
| 41 | Immunodeficiency 72 with autoinflammation and lymphoproliferation | Enrichment | NCKAP1 | 2.21 |
| 42 | Blepharocheilodontic syndrome 2 | Enrichment | CTNND1 | 2.21 |
| 43 | Cardiomyopathy, familial hypertrophic, 10 | Enrichment | MYL2 | 2.21 |
| 44 | Papillary renal cell carcinoma | Enrichment | MET | 2.21 |
| 45 | Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | Enrichment | MYL2 | 2.21 |
| 46 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.21 |
| 47 | Teratoma | Enrichment | CTNNB1 | 2.21 |
| 48 | Immunodeficiency 72 | Enrichment | NCKAP1 | 2.21 |
| 49 | Microcephaly | Enrichment | CTNNB1, DIAPH1, IGF1R | 2.19 |
| 50 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.03 |
| 51 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.03 |
| 52 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.03 |
| 53 | Anus, imperforate | Enrichment | CTNNB1 | 2.03 |
| 54 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.03 |
| 55 | Developmental and epileptic encephalopathy 65 | Enrichment | CYFIP2 | 2.03 |
| 56 | Desmoid tumor | Enrichment | CTNNB1 | 2.03 |
| 57 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 2.03 |
| 58 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 2.03 |
| 59 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.03 |
| 60 | Renal cell carcinoma | Enrichment | MET | 2.03 |
| 61 | Sensorineural hearing loss | Enrichment | HGF, STX4 | 2.02 |
| 62 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 1.91 |
| 63 | Pilomatrixoma | Enrichment | CTNNB1 | 1.91 |
| 64 | Alazami syndrome | Enrichment | CTNNB1 | 1.91 |
| 65 | Craniopharyngioma | Enrichment | CTNNB1 | 1.91 |
| 66 | Cataract 6, multiple types | Enrichment | EPHA2 | 1.81 |
| 67 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.81 |
| 68 | Insulin-like growth factor i | Enrichment | IGF1R | 1.81 |
| 69 | Aniridia | Enrichment | EPHA2 | 1.81 |
| 70 | Cowden syndrome 1 | Enrichment | EGFR | 1.73 |
| 71 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.73 |
| 72 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.73 |
| 73 | Moyamoya disease 1 | Enrichment | DIAPH1 | 1.73 |
| 74 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | MYO6 | 1.73 |
| 75 | Pendred syndrome | Enrichment | DIAPH1 | 1.73 |
| 76 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.73 |
| 77 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.73 |
| 78 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.67 |
| 79 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 1.67 |
| 80 | Gallbladder cancer | Enrichment | CTNNB1 | 1.67 |
| 81 | Familial isolated restrictive cardiomyopathy | Enrichment | MYL2 | 1.67 |
| 82 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.61 |
| 83 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.61 |
| 84 | Early-onset posterior polar cataract | Enrichment | EPHA2 | 1.61 |
| 85 | Rare genetic deafness | Enrichment | DIAPH1, MYO6 | 1.61 |
| 86 | Dilated cardiomyopathy | Enrichment | MYL2, VCL | 1.60 |
| 87 | Autosomal dominant macrothrombocytopenia | Enrichment | ACTN1 | 1.52 |
| 88 | Lung non-small cell carcinoma | Enrichment | EGFR | 1.47 |
| 89 | Lip and oral cavity carcinoma | Enrichment | EGFR | 1.44 |
| 90 | Nk-cell enteropathy | Enrichment | IGF1R | 1.40 |
| 91 | Medulloblastoma | Enrichment | CTNNB1 | 1.37 |
| 92 | Lung cancer susceptibility 3 | Enrichment | EGFR | 1.37 |
| 93 | Heart disease | Enrichment | MYL2 | 1.37 |
| 94 | Cataract | Enrichment | EPHA2 | 1.37 |
| 95 | Cleft lip/palate | Enrichment | CDH1 | 1.37 |
| 96 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 1.34 |
| 97 | Congenital myopathy 4a, autosomal dominant | Enrichment | MYL2 | 1.34 |
| 98 | Gliosarcoma | Enrichment | EGFR | 1.31 |
| 99 | Cardiomyopathy, dilated, 1e | Enrichment | MYL2 | 1.29 |
| 100 | Cataract 44 | Enrichment | EPHA2 | 1.29 |
| 101 | Polycystic liver disease | Enrichment | CTNNB1 | 1.29 |
| 102 | Giant cell glioblastoma | Enrichment | EGFR | 1.29 |
| 103 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.29 |
| 104 | Early-onset nuclear cataract | Enrichment | EPHA2 | 1.27 |
| 105 | Arteriovenous malformations of the brain | Enrichment | EGFR | 1.24 |
| 106 | Craniosynostosis | Enrichment | CTNNA1 | 1.22 |
| 107 | Endometrial cancer | Enrichment | CDH1 | 1.20 |
| 108 | Hepatoblastoma | Enrichment | CTNNB1 | 1.20 |
| 109 | Ear malformation | Enrichment | MYO6 | 1.14 |
| 110 | Auditory neuropathy | Enrichment | DIAPH1 | 1.11 |
| 111 | Prostate cancer | Enrichment | CDH1 | 1.07 |
| 112 | Meckel syndrome, type 1 | Enrichment | EXOC4 | 1.07 |
| 113 | Familial hypertrophic cardiomyopathy | Enrichment | MYL2 | 1.01 |
| 114 | Non-syndromic genetic deafness | Enrichment | MYO6 | 0.98 |
| 115 | Leukemia, acute myeloid | Enrichment | LPP | 0.93 |
| 116 | Epilepsy | Enrichment | DIAPH1 | 0.93 |
| 117 | Nonsyndromic hearing loss | Enrichment | MYO6 | 0.91 |
| 118 | Gastric cancer | Enrichment | CDH1 | 0.90 |
| 119 | Hypertrophic cardiomyopathy | Enrichment | MYL2 | 0.90 |
| 120 | Hereditary breast carcinoma | Enrichment | CDH1 | 0.89 |
| 121 | Thrombocytopenia | Enrichment | ACTN1 | 0.86 |
| 122 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MYO6 | 0.83 |
| 123 | Familial isolated dilated cardiomyopathy | Enrichment | VCL | 0.82 |
| 124 | Hereditary breast ovarian cancer syndrome | Enrichment | CTNNA1 | 0.80 |
| 125 | Undetermined early-onset epileptic encephalopathy | Enrichment | CYFIP2 | 0.80 |
| 126 | Schizophrenia | Enrichment | LPP | 0.78 |
| 127 | Breast cancer | Enrichment | CDH1 | 0.68 |
| 128 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.55 |
| 129 | Nervous system disease | Enrichment | CTNNB1 | 0.55 |
| 130 | Hereditary retinal dystrophy | Enrichment | CTNNA1 | 0.22 |
| 131 | Fundus dystrophy | Enrichment | CTNNA1 | 0.22 |