| 1 | Ventricular septal defect 1 | Enrichment | BMP2, BMP7, GATA4 | 7.43 |
| 2 | Heart disease | Enrichment | GATA4, MYL2, NKX2-5 | 5.88 |
| 3 | Familial atrial fibrillation | Enrichment | GATA4, NKX2-5, NPPA | 5.13 |
| 4 | Juvenile polyposis syndrome | Enrichment | BMPR1A, SMAD4 | 5.12 |
| 5 | Pulmonary arterial hypertension associated with congenital heart disease | Enrichment | BMPR2, SMAD9 | 5.12 |
| 6 | Brachydactyly, type a2 | Enrichment | BMP2, BMPR1B | 4.82 |
| 7 | Left ventricular noncompaction | Enrichment | MYH7, MYH7B, NKX2-5 | 4.63 |
| 8 | Congenital heart defects, multiple types, 4 | Enrichment | BMP7, GATA4 | 4.60 |
| 9 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | BMPR1A, SMAD4 | 4.60 |
| 10 | Hypertrophic cardiomyopathy | Enrichment | MYH7, MYH7B, MYL2 | 4.36 |
| 11 | Heritable pulmonary arterial hypertension | Enrichment | BMPR2, SMAD9 | 3.86 |
| 12 | Congenital myopathy 4a, autosomal dominant | Enrichment | MYH7, MYL2 | 3.58 |
| 13 | Dilated cardiomyopathy | Enrichment | MYH7, MYL2, NKX2-5 | 3.55 |
| 14 | Cardiomyopathy, dilated, 1e | Enrichment | MYH7, MYL2 | 3.47 |
| 15 | Patent foramen ovale | Enrichment | GATA4, NKX2-5 | 3.42 |
| 16 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | MYH7, MYH7B | 3.17 |
| 17 | Tetralogy of fallot | Enrichment | GATA4, NKX2-5 | 3.10 |
| 18 | Familial hypertrophic cardiomyopathy | Enrichment | MYH7, MYL2 | 2.89 |
| 19 | Atrial septal defect 7 with or without atrioventricular conduction defects | Enrichment | NKX2-5 | 2.79 |
| 20 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.79 |
| 21 | Hypothyroidism, congenital, nongoitrous, 5 | Enrichment | NKX2-5 | 2.79 |
| 22 | Polyposis syndrome, hereditary mixed, 2 | Enrichment | BMPR1A | 2.79 |
| 23 | Acromesomelic dysplasia 3 | Enrichment | BMPR1B | 2.79 |
| 24 | Brachydactyly, type a1, d | Enrichment | BMPR1B | 2.79 |
| 25 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.79 |
| 26 | Atrioventricular septal defect 4 | Enrichment | GATA4 | 2.79 |
| 27 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.79 |
| 28 | Orofacial cleft 11 | Enrichment | BMP4 | 2.79 |
| 29 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 2.79 |
| 30 | Atrial septal defect 2 | Enrichment | GATA4 | 2.79 |
| 31 | Ventricular septal defect 3 | Enrichment | NKX2-5 | 2.79 |
| 32 | Pulmonary hypertension, primary, 2 | Enrichment | SMAD9 | 2.79 |
| 33 | Testicular anomalies with or without congenital heart disease | Enrichment | GATA4 | 2.79 |
| 34 | Hypoplastic left heart syndrome 2 | Enrichment | NKX2-5 | 2.79 |
| 35 | 20p12.3 microdeletion syndrome | Enrichment | BMP2 | 2.79 |
| 36 | 8p23.1 microdeletion syndrome | Enrichment | GATA4 | 2.79 |
| 37 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | Enrichment | BMP2 | 2.79 |
| 38 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.79 |
| 39 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 2.79 |
| 40 | Aortic arch interruption | Enrichment | NKX2-5 | 2.79 |
| 41 | Primary pulmonary hypertension | Enrichment | BMPR2 | 2.79 |
| 42 | Pulmonary hypertension | Enrichment | BMPR2 | 2.79 |
| 43 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 2.79 |
| 44 | Drug- or toxin-induced pulmonary arterial hypertension | Enrichment | BMPR2 | 2.79 |
| 45 | Atrial heart septal defect 7 | Enrichment | NKX2-5 | 2.79 |
| 46 | Partial atrioventricular septal defect with ventricular hypoplasia | Enrichment | GATA4 | 2.79 |
| 47 | Mef2c-related disorder | Enrichment | MEF2C | 2.79 |
| 48 | Myhre syndrome | Enrichment | SMAD4 | 2.49 |
| 49 | Ebstein anomaly | Enrichment | MYH7 | 2.49 |
| 50 | Pulmonary venoocclusive disease 1, autosomal dominant | Enrichment | BMPR2 | 2.49 |
| 51 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.49 |
| 52 | Fibrodysplasia ossificans progressiva | Enrichment | BMPR2 | 2.49 |
| 53 | Atrial fibrillation, familial, 6 | Enrichment | NPPA | 2.49 |
| 54 | Pulmonary venoocclusive disease 1 | Enrichment | BMPR2 | 2.49 |
| 55 | Cardiomyopathy, familial hypertrophic, 10 | Enrichment | MYL2 | 2.49 |
| 56 | 46,xy sex reversal 3 | Enrichment | GATA4 | 2.49 |
| 57 | Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | Enrichment | MYL2 | 2.49 |
| 58 | Craniosynostosis 7 | Enrichment | BMP2 | 2.49 |
| 59 | Hereditary mixed polyposis syndrome | Enrichment | BMPR1A | 2.49 |
| 60 | Familial isolated congenital asplenia | Enrichment | NKX2-5 | 2.49 |
| 61 | Deletion 5q35 | Enrichment | NKX2-5 | 2.49 |
| 62 | Isolated atrial standstill | Enrichment | NPPA | 2.49 |
| 63 | Pulmonary venoocclusive disease | Enrichment | BMPR2 | 2.49 |
| 64 | Juvenile polyposis of infancy | Enrichment | BMPR1A | 2.49 |
| 65 | Idiopathic/heritable pulmonary arterial hypertension | Enrichment | BMPR2 | 2.49 |
| 66 | Brachydactyly, type a1 | Enrichment | BMPR1B | 2.31 |
| 67 | Brachydactyly, type c | Enrichment | BMPR1B | 2.31 |
| 68 | Acromesomelic dysplasia 2a | Enrichment | BMPR1B | 2.31 |
| 69 | Acromesomelic dysplasia 2c | Enrichment | BMPR1B | 2.31 |
| 70 | Acromesomelic dysplasia 2b | Enrichment | BMPR1B | 2.31 |
| 71 | Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction | Enrichment | MYH7B | 2.31 |
| 72 | Transposition of the great arteries, dextro-looped | Enrichment | BMP2 | 2.31 |
| 73 | Atrial standstill 2 | Enrichment | NPPA | 2.31 |
| 74 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 2.31 |
| 75 | Qualitative or quantitative defects of beta-myosin heavy chain | Enrichment | MYH7 | 2.31 |
| 76 | Idiopathic camptocormia | Enrichment | MYH7 | 2.31 |
| 77 | Myopathy, distal, 1 | Enrichment | MYH7 | 2.19 |
| 78 | Congenital myopathy 7b, myosin storage, autosomal recessive | Enrichment | MYH7 | 2.19 |
| 79 | Microtia-anotia | Enrichment | BMP5 | 2.19 |
| 80 | Congenital myopathy 7a, myosin storage, autosomal dominant | Enrichment | MYH7 | 2.19 |
| 81 | Hyaline body myopathy | Enrichment | MYH7 | 2.19 |
| 82 | Hereditary progressive cardiac conduction defect | Enrichment | NKX2-5 | 2.19 |
| 83 | Transposition of the great arteries | Enrichment | GATA4 | 2.19 |
| 84 | Congenital myopathy 3 with rigid spine | Enrichment | MYH7 | 2.09 |
| 85 | Atrioventricular septal defect | Enrichment | BMP5 | 2.09 |
| 86 | Persistent truncus arteriosus | Enrichment | NKX2-5 | 2.09 |
| 87 | Atrial septal defect 1 | Enrichment | BMP2 | 2.01 |
| 88 | Conotruncal heart malformations | Enrichment | NKX2-5 | 2.01 |
| 89 | Anterior segment dysgenesis 5 | Enrichment | BMP4 | 2.01 |
| 90 | Double outlet right ventricle | Enrichment | NKX2-5 | 2.01 |
| 91 | Inherited arrhythmogenic cardiomyopathy | Enrichment | MYH7 | 2.01 |
| 92 | Hypothyroidism, congenital, nongoitrous, 2 | Enrichment | NKX2-5 | 1.95 |
| 93 | Gallbladder cancer | Enrichment | SMAD4 | 1.95 |
| 94 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.95 |
| 95 | Familial isolated restrictive cardiomyopathy | Enrichment | MYL2 | 1.95 |
| 96 | Hemochromatosis, type 1 | Enrichment | BMP2 | 1.89 |
| 97 | Myocarditis | Enrichment | MYH7 | 1.89 |
| 98 | Hypoplastic left heart syndrome | Enrichment | NKX2-5 | 1.89 |
| 99 | Tooth agenesis, selective, 1 | Enrichment | BMPR2 | 1.84 |
| 100 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | MYH7 | 1.84 |
| 101 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | MYH7 | 1.84 |
| 102 | Peters-plus syndrome | Enrichment | BMP4 | 1.79 |
| 103 | Stickler syndrome | Enrichment | BMP4 | 1.79 |
| 104 | Atrial heart septal defect | Enrichment | NKX2-5 | 1.75 |
| 105 | Interatrial communication | Enrichment | NKX2-5 | 1.75 |
| 106 | Familial colorectal cancer type x | Enrichment | BMPR1A | 1.75 |
| 107 | Inherited cancer-predisposing syndrome | Enrichment | BMPR1A, SMAD4 | 1.72 |
| 108 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4 | 1.71 |
| 109 | Restrictive cardiomyopathy | Enrichment | MYH7 | 1.71 |
| 110 | Aortic valve disease 1 | Enrichment | NKX2-5 | 1.68 |
| 111 | Pulmonary hypertension, primary, 1 | Enrichment | BMPR2 | 1.68 |
| 112 | Aortic aneurysm, familial thoracic 1 | Enrichment | GATA4 | 1.65 |
| 113 | Cleft lip/palate | Enrichment | BMP4 | 1.65 |
| 114 | 46,xy partial gonadal dysgenesis | Enrichment | GATA4 | 1.65 |
| 115 | Wolff-parkinson-white syndrome | Enrichment | MYH7 | 1.59 |
| 116 | Heart, malformation of | Enrichment | GATA4 | 1.54 |
| 117 | Neuromuscular disease | Enrichment | MYH7 | 1.54 |
| 118 | Congenital myopathy | Enrichment | MYH7 | 1.52 |
| 119 | Pancreatic cancer | Enrichment | SMAD4 | 1.40 |
| 120 | Myopathy | Enrichment | MYH7 | 1.20 |
| 121 | Gastric cancer | Enrichment | SMAD4 | 1.17 |
| 122 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD4 | 1.16 |
| 123 | Thrombocytopenia | Enrichment | SMAD4 | 1.12 |
| 124 | Familial isolated dilated cardiomyopathy | Enrichment | MYH7 | 1.08 |
| 125 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | GATA4 | 1.06 |
| 126 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MEF2C | 1.05 |
| 127 | Colorectal cancer | Enrichment | SMAD4 | 0.88 |
| 128 | Ovarian cancer | Enrichment | BMPR1A | 0.82 |
| 129 | Autism spectrum disorder | Enrichment | MEF2C | 0.79 |