| 1 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2, CTNNA3, DSP, JUP | 7.60 |
| 2 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | ACTN2, CTNNA3, DSP, JUP | 7.34 |
| 3 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | CTNNA3, DSP, JUP | 5.59 |
| 4 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | CTNNA3, DSP, JUP | 5.59 |
| 5 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 5.27 |
| 6 | Epidermolysis bullosa, lethal acantholytic | Enrichment | DSP, JUP | 4.79 |
| 7 | Dilated cardiomyopathy | Enrichment | ACTN2, DSP, JUP | 3.06 |
| 8 | Bladder cancer | Enrichment | CTNNA3, CTNNB1 | 2.68 |
| 9 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 2.63 |
| 10 | Pseudo-torch syndrome 1 | Enrichment | OCLN | 2.63 |
| 11 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 2.63 |
| 12 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.63 |
| 13 | Focal segmental glomerulosclerosis 1 | Enrichment | ACTN4 | 2.63 |
| 14 | Arrhythmogenic right ventricular dysplasia, familial, 12 | Enrichment | JUP | 2.63 |
| 15 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.63 |
| 16 | Deafness, autosomal dominant 51 | Enrichment | TJP2 | 2.63 |
| 17 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | Enrichment | ACTN2 | 2.63 |
| 18 | Oculodentodigital dysplasia | Enrichment | GJA1 | 2.63 |
| 19 | Arrhythmogenic right ventricular dysplasia, familial, 13 | Enrichment | CTNNA3 | 2.63 |
| 20 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 2.63 |
| 21 | Naxos disease | Enrichment | JUP | 2.63 |
| 22 | Basal ganglia calcification, idiopathic, 8, autosomal recessive | Enrichment | JAM2 | 2.63 |
| 23 | Cortical dysplasia, complex, with other brain malformations 9 | Enrichment | CTNNA2 | 2.63 |
| 24 | Congenital myopathy 8 | Enrichment | ACTN2 | 2.63 |
| 25 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.63 |
| 26 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.63 |
| 27 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 2.63 |
| 28 | Actn3 deficiency | Enrichment | ACTN3 | 2.63 |
| 29 | Becker nevus syndrome | Enrichment | ACTB | 2.63 |
| 30 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.63 |
| 31 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.63 |
| 32 | Bleeding disorder, platelet-type, 15 | Enrichment | ACTN1 | 2.63 |
| 33 | Hemangioma of liver | Enrichment | GJA4 | 2.63 |
| 34 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 2.63 |
| 35 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.63 |
| 36 | Myopathy, distal, 6, adult-onset, autosomal dominant | Enrichment | ACTN2 | 2.63 |
| 37 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.63 |
| 38 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.63 |
| 39 | Baraitser-winter syndrome | Enrichment | ACTB | 2.63 |
| 40 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome | Enrichment | DSP | 2.63 |
| 41 | Skin hemangioma | Enrichment | GJA4 | 2.63 |
| 42 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.63 |
| 43 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.63 |
| 44 | Premature aging | Enrichment | VIM | 2.63 |
| 45 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.63 |
| 46 | Long qt syndrome | Enrichment | CTNNA3, DSP | 2.62 |
| 47 | Microcephaly | Enrichment | ACTB, ACTG1, CTNNB1 | 2.53 |
| 48 | Left ventricular noncompaction | Enrichment | ACTN2, DSP | 2.51 |
| 49 | Blepharocheilodontic syndrome 1 | Enrichment | CTNND1 | 2.33 |
| 50 | Atrial standstill 1 | Enrichment | GJA5 | 2.33 |
| 51 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.33 |
| 52 | Arrhythmogenic right ventricular dysplasia, familial, 8 | Enrichment | DSP | 2.33 |
| 53 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | Enrichment | CLDN1 | 2.33 |
| 54 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.33 |
| 55 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.33 |
| 56 | Hallermann-streiff syndrome | Enrichment | GJA1 | 2.33 |
| 57 | Cholestasis, progressive familial intrahepatic, 4 | Enrichment | TJP2 | 2.33 |
| 58 | Atrial fibrillation, familial, 11 | Enrichment | GJA5 | 2.33 |
| 59 | Syndactyly, type iii | Enrichment | GJA1 | 2.33 |
| 60 | Syndactyly, type v | Enrichment | GJA1 | 2.33 |
| 61 | Keratosis palmoplantaris striata ii | Enrichment | DSP | 2.33 |
| 62 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | Enrichment | DSP | 2.33 |
| 63 | Blepharocheilodontic syndrome 2 | Enrichment | CTNND1 | 2.33 |
| 64 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.33 |
| 65 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 2.33 |
| 66 | Progressive familial heart block | Enrichment | DSP | 2.33 |
| 67 | Cataract 30 | Enrichment | VIM | 2.33 |
| 68 | Cardiomyopathy, dilated, with woolly hair and keratoderma | Enrichment | DSP | 2.33 |
| 69 | Deafness, autosomal recessive 29 | Enrichment | CLDN14 | 2.33 |
| 70 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.33 |
| 71 | Teratoma | Enrichment | CTNNB1 | 2.33 |
| 72 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1, TJP2 | 2.18 |
| 73 | Familial isolated dilated cardiomyopathy | Enrichment | ACTN2, DSP | 2.16 |
| 74 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.15 |
| 75 | Hypercholanemia, familial 1 | Enrichment | TJP2 | 2.15 |
| 76 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.15 |
| 77 | Anus, imperforate | Enrichment | CTNNB1 | 2.15 |
| 78 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | Enrichment | DSP | 2.15 |
| 79 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.15 |
| 80 | Woolly hair-skin fragility syndrome | Enrichment | DSP | 2.15 |
| 81 | Desmoid tumor | Enrichment | CTNNB1 | 2.15 |
| 82 | Keratosis palmoplantaris striata | Enrichment | DSP | 2.15 |
| 83 | Intrinsic cardiomyopathy | Enrichment | ACTN2 | 2.15 |
| 84 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 2.15 |
| 85 | Hereditary breast ovarian cancer syndrome | Enrichment | CTNNA1, CTNNA2 | 2.13 |
| 86 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CTNNA1 | 2.03 |
| 87 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 2.03 |
| 88 | Pilomatrixoma | Enrichment | CTNNB1 | 2.03 |
| 89 | Aminoacylase 1 deficiency | Enrichment | ACTB | 2.03 |
| 90 | Alazami syndrome | Enrichment | CTNNB1 | 2.03 |
| 91 | Craniopharyngioma | Enrichment | CTNNB1 | 2.03 |
| 92 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 2.03 |
| 93 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.93 |
| 94 | Cardiac arrest | Enrichment | DSP | 1.93 |
| 95 | Histiocytoid hemangioma | Enrichment | VIM | 1.93 |
| 96 | Cleft upper lip | Enrichment | GJA1 | 1.93 |
| 97 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.93 |
| 98 | Branchiootorenal syndrome 1 | Enrichment | TJP2 | 1.85 |
| 99 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.85 |
| 100 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.85 |
| 101 | Familial hypercholanemia | Enrichment | TJP2 | 1.85 |
| 102 | Inherited arrhythmogenic cardiomyopathy | Enrichment | DSP | 1.85 |
| 103 | Cleft lip with or without cleft palate | Enrichment | CTNND1 | 1.85 |
| 104 | Branchiootorenal syndrome | Enrichment | TJP2 | 1.79 |
| 105 | Gallbladder cancer | Enrichment | CTNNB1 | 1.79 |
| 106 | Colorectal cancer | Enrichment | CTNNA1, CTNNB1 | 1.75 |
| 107 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | CLDN14, GJA1 | 1.73 |
| 108 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1 | 1.73 |
| 109 | Basal ganglia calcification, idiopathic, 1 | Enrichment | JAM2 | 1.73 |
| 110 | Perrault syndrome | Enrichment | CLDN14 | 1.73 |
| 111 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.73 |
| 112 | Myocarditis | Enrichment | DSP | 1.73 |
| 113 | Hypoplastic left heart syndrome | Enrichment | GJA1 | 1.73 |
| 114 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | DSP | 1.68 |
| 115 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.68 |
| 116 | Primary biliary cholangitis | Enrichment | TJP2 | 1.68 |
| 117 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | DSP | 1.68 |
| 118 | Cat eye syndrome | Enrichment | ACTG1 | 1.63 |
| 119 | Cataract 30, multiple types | Enrichment | VIM | 1.63 |
| 120 | Autosomal dominant macrothrombocytopenia | Enrichment | ACTN1 | 1.63 |
| 121 | Cardiac conduction defect | Enrichment | DSP | 1.55 |
| 122 | Aortic valve disease 1 | Enrichment | DSP | 1.52 |
| 123 | Medulloblastoma | Enrichment | CTNNB1 | 1.49 |
| 124 | Corpus callosum, agenesis of | Enrichment | CDH2 | 1.46 |
| 125 | Isolated corpus callosum agenesis | Enrichment | CDH2 | 1.46 |
| 126 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2 | 1.46 |
| 127 | Wolff-parkinson-white syndrome | Enrichment | JUP | 1.43 |
| 128 | Isolated congenital microcephaly | Enrichment | OCLN | 1.43 |
| 129 | Interstitial lung disease 2 | Enrichment | DSP | 1.40 |
| 130 | Polycystic liver disease | Enrichment | CTNNB1 | 1.40 |
| 131 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.40 |
| 132 | Arteriovenous malformations of the brain | Enrichment | CDH2 | 1.36 |
| 133 | Craniosynostosis | Enrichment | CTNNA1 | 1.34 |
| 134 | Cardiomyopathy, dilated, 1a | Enrichment | DSP | 1.31 |
| 135 | Lissencephaly | Enrichment | ACTG1 | 1.31 |
| 136 | Hepatoblastoma | Enrichment | CTNNB1 | 1.31 |
| 137 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 1.30 |
| 138 | Cardiomyopathy, dilated, 1g | Enrichment | DSP | 1.30 |
| 139 | Familial atrial fibrillation | Enrichment | GJA5 | 1.26 |
| 140 | Tetralogy of fallot | Enrichment | GJA5 | 1.22 |
| 141 | Auditory neuropathy | Enrichment | CDH2 | 1.22 |
| 142 | Long qt syndrome 1 | Enrichment | DSP | 1.16 |
| 143 | Familial hypertrophic cardiomyopathy | Enrichment | ACTN2 | 1.12 |
| 144 | Cakut | Enrichment | ACTG1 | 1.11 |
| 145 | Genetic steroid-resistant nephrotic syndrome | Enrichment | ACTN4 | 1.11 |
| 146 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 1.09 |
| 147 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 1.02 |
| 148 | Hypertrophic cardiomyopathy | Enrichment | ACTN2 | 1.01 |
| 149 | Sensorineural hearing loss | Enrichment | CLDN14 | 0.97 |
| 150 | Thrombocytopenia | Enrichment | ACTN1 | 0.97 |
| 151 | Deafness, autosomal recessive | Enrichment | CLDN14 | 0.86 |
| 152 | Autosomal recessive nonsyndromic deafness | Enrichment | CLDN14 | 0.85 |
| 153 | Rare genetic deafness | Enrichment | ACTG1 | 0.77 |
| 154 | Ovarian cancer | Enrichment | CTNNB1 | 0.67 |
| 155 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.65 |
| 156 | Nervous system disease | Enrichment | CTNNB1 | 0.65 |
| 157 | Inherited cancer-predisposing syndrome | Enrichment | CTNNA1 | 0.57 |
| 158 | Hereditary retinal dystrophy | Enrichment | CTNNA1 | 0.30 |
| 159 | Fundus dystrophy | Enrichment | CTNNA1 | 0.30 |