| 1 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 5.33 |
| 2 | Anus, imperforate | Enrichment | CTNNB1, MAP4K4 | 4.85 |
| 3 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, CTNNA1 | 4.55 |
| 4 | Colorectal cancer | Enrichment | CDH1, CTNNA1, CTNNB1, SRC | 4.42 |
| 5 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, CTNNA1, MAP4K2, NF2 | 3.71 |
| 6 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.66 |
| 7 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.66 |
| 8 | Schwannomatosis, vestibular | Enrichment | NF2 | 2.66 |
| 9 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.66 |
| 10 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.66 |
| 11 | Becker nevus syndrome | Enrichment | ACTB | 2.66 |
| 12 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.66 |
| 13 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.66 |
| 14 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.66 |
| 15 | Thrombocytopenia 6 | Enrichment | SRC | 2.66 |
| 16 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.66 |
| 17 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.66 |
| 18 | Amelogenesis imperfecta, type ih | Enrichment | ITGB6 | 2.66 |
| 19 | Baraitser-winter syndrome | Enrichment | ACTB | 2.66 |
| 20 | Breast lobular carcinoma | Enrichment | CDH1 | 2.66 |
| 21 | Acoustic neuroma | Enrichment | NF2 | 2.66 |
| 22 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.66 |
| 23 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.66 |
| 24 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.66 |
| 25 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.66 |
| 26 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.66 |
| 27 | Microcephaly | Enrichment | ACTB, ACTG1, CTNNB1 | 2.61 |
| 28 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 2.35 |
| 29 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 2.35 |
| 30 | Sveinsson chorioretinal atrophy | Enrichment | TEAD1 | 2.35 |
| 31 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.35 |
| 32 | Cardiomyopathy, dilated, 1r | Enrichment | ACTC1 | 2.35 |
| 33 | Schwannomatosis 1 | Enrichment | NF2 | 2.35 |
| 34 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.35 |
| 35 | Cardiomyopathy, familial hypertrophic, 11 | Enrichment | ACTC1 | 2.35 |
| 36 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 2.35 |
| 37 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.35 |
| 38 | Atrial septal defect 5 | Enrichment | ACTC1 | 2.35 |
| 39 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 2.35 |
| 40 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.35 |
| 41 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.35 |
| 42 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 2.35 |
| 43 | Teratoma | Enrichment | CTNNB1 | 2.35 |
| 44 | Intestinal obstruction | Enrichment | ACTG2 | 2.35 |
| 45 | Malignant peritoneal mesothelioma | Enrichment | LATS1 | 2.35 |
| 46 | Thrombocytopenia | Enrichment | ITGB3, SRC | 2.30 |
| 47 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.18 |
| 48 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 2.18 |
| 49 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 2.18 |
| 50 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.18 |
| 51 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.18 |
| 52 | Desmoid tumor | Enrichment | CTNNB1 | 2.18 |
| 53 | Cellular ependymoma | Enrichment | NF2 | 2.18 |
| 54 | Tanycytic ependymoma | Enrichment | NF2 | 2.18 |
| 55 | Papillary ependymoma | Enrichment | NF2 | 2.18 |
| 56 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 2.18 |
| 57 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 2.18 |
| 58 | Spindle cell sarcoma | Enrichment | NF2 | 2.18 |
| 59 | Clear cell ependymoma | Enrichment | NF2 | 2.18 |
| 60 | Alopecia - intellectual disability syndrome | Enrichment | ITGB6 | 2.18 |
| 61 | Amelogenesis imperfecta, type iiia | Enrichment | ITGB6 | 2.05 |
| 62 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2 | 2.05 |
| 63 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 2.05 |
| 64 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 2.05 |
| 65 | Pilomatrixoma | Enrichment | CTNNB1 | 2.05 |
| 66 | Aminoacylase 1 deficiency | Enrichment | ACTB | 2.05 |
| 67 | Alazami syndrome | Enrichment | CTNNB1 | 2.05 |
| 68 | Craniopharyngioma | Enrichment | CTNNB1 | 2.05 |
| 69 | Full schwannomatosis | Enrichment | NF2 | 2.05 |
| 70 | Benign ependymoma | Enrichment | NF2 | 2.05 |
| 71 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 2.05 |
| 72 | Visceral myopathy 1 | Enrichment | ACTG2 | 1.96 |
| 73 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 1.96 |
| 74 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.96 |
| 75 | Cholangitis, primary sclerosing | Enrichment | MST1 | 1.96 |
| 76 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.96 |
| 77 | Aplasia cutis congenita | Enrichment | ITGB4 | 1.96 |
| 78 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.96 |
| 79 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.88 |
| 80 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4 | 1.88 |
| 81 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGB4 | 1.88 |
| 82 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4 | 1.88 |
| 83 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 1.88 |
| 84 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.88 |
| 85 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.88 |
| 86 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.88 |
| 87 | Multiple endocrine neoplasia, type i | Enrichment | MAP4K2 | 1.81 |
| 88 | Myelofibrosis | Enrichment | SRC | 1.81 |
| 89 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.81 |
| 90 | Gallbladder cancer | Enrichment | CTNNB1 | 1.81 |
| 91 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 1.81 |
| 92 | Renal hypodysplasia/aplasia 1 | Enrichment | MAP4K4 | 1.76 |
| 93 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.76 |
| 94 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.70 |
| 95 | Junctional epidermolysis bullosa | Enrichment | ITGB4 | 1.70 |
| 96 | Ovarian cancer | Enrichment | CDH1, CTNNB1 | 1.68 |
| 97 | Cat eye syndrome | Enrichment | ACTG1 | 1.66 |
| 98 | Amelogenesis imperfecta, type ie | Enrichment | ITGB6 | 1.66 |
| 99 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.66 |
| 100 | Meningioma, familial | Enrichment | NF2 | 1.62 |
| 101 | Meningioma | Enrichment | NF2 | 1.58 |
| 102 | Neural tube defects | Enrichment | ITGB1 | 1.55 |
| 103 | Multiple sclerosis | Enrichment | ITGB4 | 1.52 |
| 104 | Osteoporosis | Enrichment | SRC | 1.52 |
| 105 | Medulloblastoma | Enrichment | CTNNB1 | 1.52 |
| 106 | Cleft lip/palate | Enrichment | CDH1 | 1.52 |
| 107 | Polycystic liver disease | Enrichment | CTNNB1 | 1.43 |
| 108 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.43 |
| 109 | Patent foramen ovale | Enrichment | ACTC1 | 1.41 |
| 110 | Arteriovenous malformations of the brain | Enrichment | MAP4K4 | 1.38 |
| 111 | Craniosynostosis | Enrichment | CTNNA1 | 1.36 |
| 112 | Endometrial cancer | Enrichment | CDH1 | 1.34 |
| 113 | Lissencephaly | Enrichment | ACTG1 | 1.34 |
| 114 | Hepatoblastoma | Enrichment | CTNNB1 | 1.34 |
| 115 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 1.32 |
| 116 | Myocardial infarction | Enrichment | ITGB3 | 1.32 |
| 117 | Skin disease | Enrichment | ITGB4 | 1.32 |
| 118 | Bladder cancer | Enrichment | CTNNB1 | 1.21 |
| 119 | Prostate cancer | Enrichment | CDH1 | 1.21 |
| 120 | Familial hypertrophic cardiomyopathy | Enrichment | ACTC1 | 1.15 |
| 121 | Cakut | Enrichment | ACTG1 | 1.14 |
| 122 | Left ventricular noncompaction | Enrichment | ACTC1 | 1.13 |
| 123 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 1.12 |
| 124 | Distal arthrogryposis | Enrichment | ACTC1 | 1.05 |
| 125 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 1.05 |
| 126 | Gastric cancer | Enrichment | CDH1 | 1.04 |
| 127 | Hypertrophic cardiomyopathy | Enrichment | ACTC1 | 1.04 |
| 128 | Hereditary breast carcinoma | Enrichment | CDH1 | 1.03 |
| 129 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.96 |
| 130 | Familial isolated dilated cardiomyopathy | Enrichment | ACTC1 | 0.95 |
| 131 | Hereditary breast ovarian cancer syndrome | Enrichment | CTNNA1 | 0.94 |
| 132 | Myeloma, multiple | Enrichment | LATS1 | 0.93 |
| 133 | Breast cancer | Enrichment | CDH1 | 0.81 |
| 134 | Rare genetic deafness | Enrichment | ACTG1 | 0.79 |
| 135 | Dilated cardiomyopathy | Enrichment | ACTC1 | 0.79 |
| 136 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.68 |
| 137 | Nervous system disease | Enrichment | CTNNB1 | 0.68 |
| 138 | Hereditary retinal dystrophy | Enrichment | CTNNA1 | 0.32 |
| 139 | Fundus dystrophy | Enrichment | CTNNA1 | 0.32 |