| 1 | Colorectal cancer | Enrichment | CDH1, CTNNA1, CTNNB1, MET, PTPRJ, SRC | 6.73 |
| 2 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2, CTNNA3, JUP | 5.07 |
| 3 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1, CTNND1 | 5.07 |
| 4 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1, MET | 5.07 |
| 5 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 5.07 |
| 6 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, CTNNA1 | 4.30 |
| 7 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42, PTPN11 | 4.30 |
| 8 | Cleft lip with or without cleft palate | Enrichment | CDH1, CTNND1 | 3.90 |
| 9 | Microcephaly | Enrichment | ACTB, ACTG1, CTNNB1, PTPN11 | 3.34 |
| 10 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | CTNNA3, JUP | 3.26 |
| 11 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | CTNNA3, JUP | 3.26 |
| 12 | Hereditary breast ovarian cancer syndrome | Enrichment | CTNNA1, CTNNA2, FMN1 | 3.25 |
| 13 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, CTNNA1, MET, PTPN11 | 3.22 |
| 14 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | CTNNA3, JUP | 3.00 |
| 15 | Patent foramen ovale | Enrichment | ACTC1, PTPN11 | 2.90 |
| 16 | Dilated cardiomyopathy | Enrichment | ACTA1, ACTC1, JUP | 2.78 |
| 17 | Hepatocellular carcinoma | Enrichment | CTNNB1, MET | 2.72 |
| 18 | Hydrops fetalis, nonimmune | Enrichment | ACTA1, PTPN11 | 2.58 |
| 19 | Metachondromatosis | Enrichment | PTPN11 | 2.53 |
| 20 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | Enrichment | CDH3 | 2.53 |
| 21 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.53 |
| 22 | Arrhythmogenic right ventricular dysplasia, familial, 12 | Enrichment | JUP | 2.53 |
| 23 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.53 |
| 24 | Intellectual developmental disorder, autosomal dominant 3 | Enrichment | CDH15 | 2.53 |
| 25 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.53 |
| 26 | Breasts and/or nipples, aplasia or hypoplasia of, 1 | Enrichment | PTPRF | 2.53 |
| 27 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.53 |
| 28 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.53 |
| 29 | Arrhythmogenic right ventricular dysplasia, familial, 13 | Enrichment | CTNNA3 | 2.53 |
| 30 | Naxos disease | Enrichment | JUP | 2.53 |
| 31 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.53 |
| 32 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | Enrichment | PTPRF | 2.53 |
| 33 | Cortical dysplasia, complex, with other brain malformations 9 | Enrichment | CTNNA2 | 2.53 |
| 34 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.53 |
| 35 | Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia | Enrichment | ARPC1B | 2.53 |
| 36 | Osteofibrous dysplasia | Enrichment | MET | 2.53 |
| 37 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.53 |
| 38 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.53 |
| 39 | Hypotrichosis | Enrichment | CDH3 | 2.53 |
| 40 | Becker nevus syndrome | Enrichment | ACTB | 2.53 |
| 41 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.53 |
| 42 | Autism 9 | Enrichment | MET | 2.53 |
| 43 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.53 |
| 44 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.53 |
| 45 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.53 |
| 46 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.53 |
| 47 | Thrombocytopenia 6 | Enrichment | SRC | 2.53 |
| 48 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.53 |
| 49 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.53 |
| 50 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.53 |
| 51 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.53 |
| 52 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.53 |
| 53 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.53 |
| 54 | Baraitser-winter syndrome | Enrichment | ACTB | 2.53 |
| 55 | Thrombocytopenia 10 | Enrichment | PTPRJ | 2.53 |
| 56 | Breast lobular carcinoma | Enrichment | CDH1 | 2.53 |
| 57 | Zebra body myopathy | Enrichment | ACTA1 | 2.53 |
| 58 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.53 |
| 59 | Nocarh syndrome | Enrichment | CDC42 | 2.53 |
| 60 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.53 |
| 61 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.53 |
| 62 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.53 |
| 63 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.53 |
| 64 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.53 |
| 65 | Malignant astrocytoma | Enrichment | PTPN11 | 2.53 |
| 66 | Ovarian cancer | Enrichment | CDH1, CTNNB1, MET | 2.49 |
| 67 | Bladder cancer | Enrichment | CTNNA3, CTNNB1 | 2.49 |
| 68 | Non-immune hydrops fetalis | Enrichment | ACTA1, PTPN11 | 2.43 |
| 69 | Lung cancer | Enrichment | ACTA2, MET | 2.40 |
| 70 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.23 |
| 71 | Hypotrichosis, congenital, with juvenile macular dystrophy | Enrichment | CDH3 | 2.23 |
| 72 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 2.23 |
| 73 | Cardiomyopathy, dilated, 1r | Enrichment | ACTC1 | 2.23 |
| 74 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.23 |
| 75 | Cardiomyopathy, familial hypertrophic, 11 | Enrichment | ACTC1 | 2.23 |
| 76 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 2.23 |
| 77 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 2.23 |
| 78 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.23 |
| 79 | Moyamoya disease 5 | Enrichment | ACTA2 | 2.23 |
| 80 | Atrial septal defect 5 | Enrichment | ACTC1 | 2.23 |
| 81 | Blepharocheilodontic syndrome 2 | Enrichment | CTNND1 | 2.23 |
| 82 | Developmental delay, language impairment, and ocular abnormalities | Enrichment | ARPC4 | 2.23 |
| 83 | Werner syndrome | Enrichment | PTPN11 | 2.23 |
| 84 | Papillary renal cell carcinoma | Enrichment | MET | 2.23 |
| 85 | Immunodeficiency 113 with autoimmunity and autoinflammation | Enrichment | ARPC5 | 2.23 |
| 86 | Immune system disease | Enrichment | CDC42 | 2.23 |
| 87 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.23 |
| 88 | Immunodeficiency 133 | Enrichment | ARPC5 | 2.23 |
| 89 | Teratoma | Enrichment | CTNNB1 | 2.23 |
| 90 | Intestinal obstruction | Enrichment | ACTG2 | 2.23 |
| 91 | Distal arthrogryposis | Enrichment | ACTA1, ACTC1 | 2.17 |
| 92 | Hypertrophic cardiomyopathy | Enrichment | ACTC1, PTPN11 | 2.15 |
| 93 | Thrombocytopenia | Enrichment | PTPN11, SRC | 2.06 |
| 94 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.05 |
| 95 | Epidermolysis bullosa, lethal acantholytic | Enrichment | JUP | 2.05 |
| 96 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.05 |
| 97 | Breast-ovarian cancer, familial 4 | Enrichment | FMN1 | 2.05 |
| 98 | Anus, imperforate | Enrichment | CTNNB1 | 2.05 |
| 99 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.05 |
| 100 | Desmoid tumor | Enrichment | CTNNB1 | 2.05 |
| 101 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 2.05 |
| 102 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.05 |
| 103 | Renal cell carcinoma | Enrichment | MET | 2.05 |
| 104 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.93 |
| 105 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2 | 1.93 |
| 106 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 1.93 |
| 107 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.93 |
| 108 | Pilomatrixoma | Enrichment | CTNNB1 | 1.93 |
| 109 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.93 |
| 110 | Alazami syndrome | Enrichment | CTNNB1 | 1.93 |
| 111 | Craniopharyngioma | Enrichment | CTNNB1 | 1.93 |
| 112 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.93 |
| 113 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.93 |
| 114 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.93 |
| 115 | Visceral myopathy 1 | Enrichment | ACTG2 | 1.83 |
| 116 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.83 |
| 117 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.83 |
| 118 | Lymphoma | Enrichment | PTPN11 | 1.83 |
| 119 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.83 |
| 120 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.83 |
| 121 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.76 |
| 122 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.76 |
| 123 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 1.76 |
| 124 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.76 |
| 125 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.76 |
| 126 | Typical nemaline myopathy | Enrichment | ACTA1 | 1.76 |
| 127 | Myelofibrosis | Enrichment | SRC | 1.69 |
| 128 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 1.69 |
| 129 | Noonan syndrome 3 | Enrichment | PTPN11 | 1.69 |
| 130 | Gallbladder cancer | Enrichment | CTNNB1 | 1.69 |
| 131 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.69 |
| 132 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.63 |
| 133 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.63 |
| 134 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.58 |
| 135 | Hypotrichosis simplex | Enrichment | CDH3 | 1.58 |
| 136 | Cat eye syndrome | Enrichment | ACTG1 | 1.54 |
| 137 | Nemaline myopathy | Enrichment | ACTA1 | 1.54 |
| 138 | Pectus excavatum | Enrichment | PTPN11 | 1.50 |
| 139 | Combined immunodeficiency | Enrichment | ARPC1B | 1.50 |
| 140 | Combined t cell and b cell immunodeficiency | Enrichment | ARPC1B | 1.50 |
| 141 | Specific learning disability | Enrichment | PTPN11 | 1.50 |
| 142 | Combined t and b cell immunodeficiency | Enrichment | ARPC1B | 1.50 |
| 143 | Epicanthus | Enrichment | PTPN11 | 1.46 |
| 144 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.46 |
| 145 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.46 |
| 146 | Osteoporosis | Enrichment | SRC | 1.39 |
| 147 | Medulloblastoma | Enrichment | CTNNB1 | 1.39 |
| 148 | Lung cancer susceptibility 3 | Enrichment | ACTA2 | 1.39 |
| 149 | Cleft lip/palate | Enrichment | CDH1 | 1.39 |
| 150 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 1.36 |
| 151 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.36 |
| 152 | Corpus callosum, agenesis of | Enrichment | CDH2 | 1.36 |
| 153 | Isolated corpus callosum agenesis | Enrichment | CDH2 | 1.36 |
| 154 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2 | 1.36 |
| 155 | Noonan syndrome and noonan-related syndrome | Enrichment | PTPN11 | 1.36 |
| 156 | Wolff-parkinson-white syndrome | Enrichment | JUP | 1.34 |
| 157 | Polycystic liver disease | Enrichment | CTNNB1 | 1.31 |
| 158 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.31 |
| 159 | Neuromuscular disease | Enrichment | ACTA1 | 1.29 |
| 160 | Arteriovenous malformations of the brain | Enrichment | CDH2 | 1.26 |
| 161 | Congenital myopathy | Enrichment | ACTA1 | 1.26 |
| 162 | Craniosynostosis | Enrichment | CTNNA1 | 1.24 |
| 163 | Endometrial cancer | Enrichment | CDH1 | 1.22 |
| 164 | Lissencephaly | Enrichment | ACTG1 | 1.22 |
| 165 | Centronuclear myopathy | Enrichment | ACTA1 | 1.22 |
| 166 | Hepatoblastoma | Enrichment | CTNNB1 | 1.22 |
| 167 | Noonan syndrome 1 | Enrichment | PTPN11 | 1.18 |
| 168 | Scoliosis | Enrichment | PTPN11 | 1.16 |
| 169 | Rasopathy | Enrichment | PTPN11 | 1.13 |
| 170 | Auditory neuropathy | Enrichment | CDH2 | 1.13 |
| 171 | Strabismus | Enrichment | PTPN11 | 1.12 |
| 172 | Prostate cancer | Enrichment | CDH1 | 1.09 |
| 173 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.07 |
| 174 | Long qt syndrome | Enrichment | CTNNA3 | 1.06 |
| 175 | Connective tissue disease | Enrichment | ACTA2 | 1.04 |
| 176 | Familial hypertrophic cardiomyopathy | Enrichment | ACTC1 | 1.03 |
| 177 | Cakut | Enrichment | ACTG1 | 1.02 |
| 178 | Left ventricular noncompaction | Enrichment | ACTC1 | 1.01 |
| 179 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 1.00 |
| 180 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1 | 0.98 |
| 181 | Myopathy | Enrichment | ACTA1 | 0.95 |
| 182 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.93 |
| 183 | Gastric cancer | Enrichment | CDH1 | 0.92 |
| 184 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2 | 0.91 |
| 185 | Hereditary breast carcinoma | Enrichment | CDH1 | 0.91 |
| 186 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CDH15 | 0.86 |
| 187 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.85 |
| 188 | Familial isolated dilated cardiomyopathy | Enrichment | ACTC1 | 0.84 |
| 189 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.82 |
| 190 | Schizophrenia | Enrichment | PTPRM | 0.80 |
| 191 | Breast cancer | Enrichment | CDH1 | 0.70 |
| 192 | Rare genetic deafness | Enrichment | ACTG1 | 0.68 |
| 193 | Hereditary retinal dystrophy | Enrichment | CDH3, CTNNA1 | 0.68 |
| 194 | Fundus dystrophy | Enrichment | CDH3, CTNNA1 | 0.68 |
| 195 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MET | 0.63 |
| 196 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.57 |
| 197 | Nervous system disease | Enrichment | CTNNB1 | 0.57 |
| 198 | Autism spectrum disorder | Enrichment | PTPN11 | 0.56 |
| 199 | Retinitis pigmentosa | Enrichment | CDH3 | 0.33 |