| 1 | Patent foramen ovale | Enrichment | ACTC1, GATA4, MYH6, NKX2-5, TBX20, TBX5 | 10.24 |
| 2 | Dilated cardiomyopathy | Enrichment | ACTC1, MYH6, MYL2, NKX2-5, SCN5A, TBX5, TNNI3, TNNT2 | 9.11 |
| 3 | Left ventricular noncompaction | Enrichment | ACTC1, NKX2-5, SCN5A, TBX20, TNNI3, TNNT2 | 8.40 |
| 4 | Hypoplastic left heart syndrome | Enrichment | MYH6, NKX2-5, NOTCH1, TBX20 | 7.84 |
| 5 | Heart disease | Enrichment | GATA4, MYL2, NKX2-5, TBX5 | 6.69 |
| 6 | Wolff-parkinson-white syndrome | Enrichment | NODAL, SCN5A, TBX20, TNNT2 | 6.44 |
| 7 | Heart, malformation of | Enrichment | GATA4, MYH6, NODAL, TBX5 | 6.21 |
| 8 | Familial isolated dilated cardiomyopathy | Enrichment | ACTC1, MYH6, SCN5A, TNNI3, TNNT2 | 5.73 |
| 9 | Familial isolated restrictive cardiomyopathy | Enrichment | MYL2, TNNI3, TNNT2 | 5.71 |
| 10 | Tetralogy of fallot | Enrichment | GATA4, KDR, NKX2-5, NOTCH1 | 5.54 |
| 11 | Familial hypertrophic cardiomyopathy | Enrichment | ACTC1, MYL2, TNNI3, TNNT2 | 5.11 |
| 12 | Hypertrophic cardiomyopathy | Enrichment | ACTC1, MYL2, TNNI3, TNNT2 | 4.64 |
| 13 | Osteoporosis, juvenile | Enrichment | DKK1, WNT3A | 4.35 |
| 14 | Hereditary progressive cardiac conduction defect | Enrichment | NKX2-5, SCN5A | 4.05 |
| 15 | Familial sick sinus syndrome | Enrichment | MYH6, SCN5A | 4.05 |
| 16 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | MYH6, TNNI3, TNNT2 | 3.97 |
| 17 | Familial atrial fibrillation | Enrichment | GATA4, NKX2-5, SCN5A | 3.97 |
| 18 | Ventricular septal defect 1 | Enrichment | GATA4, IRX4 | 3.83 |
| 19 | Anterior segment dysgenesis 5 | Enrichment | BMP4, PAX6 | 3.65 |
| 20 | Gastrointestinal stromal tumor | Enrichment | KIT, PDGFRA | 3.51 |
| 21 | Myocarditis | Enrichment | TNNI3, TNNT2 | 3.38 |
| 22 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | TNNI3, TNNT2 | 3.28 |
| 23 | Distal arthrogryposis | Enrichment | ACTC1, ROR2, SCN5A | 3.24 |
| 24 | Peters-plus syndrome | Enrichment | BMP4, PAX6 | 3.18 |
| 25 | Atrial heart septal defect | Enrichment | NKX2-5, TBX5 | 3.09 |
| 26 | Interatrial communication | Enrichment | NKX2-5, TBX5 | 3.09 |
| 27 | Restrictive cardiomyopathy | Enrichment | TNNI3, TNNT2 | 3.02 |
| 28 | Aortic valve disease 1 | Enrichment | NKX2-5, NOTCH1 | 2.94 |
| 29 | Aortic aneurysm, familial thoracic 1 | Enrichment | GATA4, NOTCH1 | 2.88 |
| 30 | Cleft lip/palate | Enrichment | BMP4, PDGFRA | 2.88 |
| 31 | Sudden infant death syndrome | Enrichment | SCN5A, TNNI3 | 2.71 |
| 32 | Cardiomyopathy, dilated, 1e | Enrichment | MYL2, SCN5A | 2.71 |
| 33 | Macs syndrome | Enrichment | PAX6, SOX2 | 2.57 |
| 34 | Microphthalmia | Enrichment | PAX6, SOX2 | 2.48 |
| 35 | Cardiomyopathy, familial hypertrophic, 2 | Enrichment | TNNT2 | 2.41 |
| 36 | Brachydactyly, type b1 | Enrichment | ROR2 | 2.41 |
| 37 | Chiari malformation type i | Enrichment | DKK1 | 2.41 |
| 38 | Atrial septal defect 7 with or without atrioventricular conduction defects | Enrichment | NKX2-5 | 2.41 |
| 39 | Stapes ankylosis with broad thumbs and toes | Enrichment | NOG | 2.41 |
| 40 | Tarsal-carpal coalition syndrome | Enrichment | NOG | 2.41 |
| 41 | Hypothyroidism, congenital, nongoitrous, 5 | Enrichment | NKX2-5 | 2.41 |
| 42 | Cardiomyopathy, dilated, 2a | Enrichment | TNNI3 | 2.41 |
| 43 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 2.41 |
| 44 | Mastocytosis, cutaneous | Enrichment | KIT | 2.41 |
| 45 | Cardiomyopathy, familial restrictive, 3 | Enrichment | TNNT2 | 2.41 |
| 46 | Holt-oram syndrome | Enrichment | TBX5 | 2.41 |
| 47 | Brachydactyly, type b2 | Enrichment | NOG | 2.41 |
| 48 | Cardiomyopathy, familial hypertrophic, 7 | Enrichment | TNNI3 | 2.41 |
| 49 | Symphalangism, proximal, 1a | Enrichment | NOG | 2.41 |
| 50 | Sacral agenesis with vertebral anomalies | Enrichment | TBXT | 2.41 |
| 51 | Multiple synostoses syndrome 1 | Enrichment | NOG | 2.41 |
| 52 | Cardiomyopathy, dilated, 1ee | Enrichment | MYH6 | 2.41 |
| 53 | Sick sinus syndrome 3 | Enrichment | MYH6 | 2.41 |
| 54 | Vesicoureteral reflux 3 | Enrichment | SOX17 | 2.41 |
| 55 | Gist-plus syndrome | Enrichment | PDGFRA | 2.41 |
| 56 | Whim syndrome 1 | Enrichment | CXCR4 | 2.41 |
| 57 | Atrioventricular septal defect 4 | Enrichment | GATA4 | 2.41 |
| 58 | Heterotaxy, visceral, 5, autosomal | Enrichment | NODAL | 2.41 |
| 59 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.41 |
| 60 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 2.41 |
| 61 | Orofacial cleft 11 | Enrichment | BMP4 | 2.41 |
| 62 | Hypoplastic right heart syndrome | Enrichment | TBX20 | 2.41 |
| 63 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 2.41 |
| 64 | Ovary adenocarcinoma | Enrichment | INHBA | 2.41 |
| 65 | Atrial septal defect 4 | Enrichment | TBX20 | 2.41 |
| 66 | Atrial septal defect 2 | Enrichment | GATA4 | 2.41 |
| 67 | Cardiomyopathy, familial hypertrophic, 14 | Enrichment | MYH6 | 2.41 |
| 68 | Ventricular septal defect 3 | Enrichment | NKX2-5 | 2.41 |
| 69 | Testicular anomalies with or without congenital heart disease | Enrichment | GATA4 | 2.41 |
| 70 | Hypoplastic left heart syndrome 2 | Enrichment | NKX2-5 | 2.41 |
| 71 | 8p23.1 microdeletion syndrome | Enrichment | GATA4 | 2.41 |
| 72 | Chronic mast cell leukemia | Enrichment | KIT | 2.41 |
| 73 | Tufted angioma of skin | Enrichment | KDR | 2.41 |
| 74 | Pulmonary hypertension, primary, 7 | Enrichment | SOX17 | 2.41 |
| 75 | Non-acquired combined pituitary hormone deficiency | Enrichment | FOXA2 | 2.41 |
| 76 | Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | Enrichment | TBXT | 2.41 |
| 77 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 2.41 |
| 78 | Aortic arch interruption | Enrichment | NKX2-5 | 2.41 |
| 79 | Isolated bone marrow mastocytosis | Enrichment | KIT | 2.41 |
| 80 | Smoldering systemic mastocytosis | Enrichment | KIT | 2.41 |
| 81 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 2.41 |
| 82 | Atrial heart septal defect 7 | Enrichment | NKX2-5 | 2.41 |
| 83 | Mastocytosis | Enrichment | KIT | 2.41 |
| 84 | Partial atrioventricular septal defect with ventricular hypoplasia | Enrichment | GATA4 | 2.41 |
| 85 | Cutaneous mastocytoma | Enrichment | KIT | 2.41 |
| 86 | Typical urticaria pigmentosa | Enrichment | KIT | 2.41 |
| 87 | Mef2c-related disorder | Enrichment | MEF2C | 2.41 |
| 88 | Nodular urticaria pigmentosa | Enrichment | KIT | 2.41 |
| 89 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.41 |
| 90 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 2.41 |
| 91 | Acute mast cell leukemia | Enrichment | KIT | 2.41 |
| 92 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 2.41 |
| 93 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.41 |
| 94 | Testis seminoma | Enrichment | KIT | 2.41 |
| 95 | Long qt syndrome 1 | Enrichment | SCN5A, TBX5 | 2.22 |
| 96 | Long qt syndrome | Enrichment | MYH6, SCN5A | 2.19 |
| 97 | Keratitis, hereditary | Enrichment | PAX6 | 2.11 |
| 98 | Atrial standstill 1 | Enrichment | SCN5A | 2.11 |
| 99 | Progressive familial heart block, type ia | Enrichment | SCN5A | 2.11 |
| 100 | Foveal hypoplasia 1 | Enrichment | PAX6 | 2.11 |
| 101 | Cardiomyopathy, familial restrictive, 1 | Enrichment | TNNI3 | 2.11 |
| 102 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.11 |
| 103 | Thumb deformity | Enrichment | TBX5 | 2.11 |
| 104 | Spondylocostal dysostosis 2, autosomal recessive | Enrichment | MESP2 | 2.11 |
| 105 | Cardiomyopathy, dilated, 1r | Enrichment | ACTC1 | 2.11 |
| 106 | Sick sinus syndrome 1 | Enrichment | SCN5A | 2.11 |
| 107 | Piebald trait | Enrichment | KIT | 2.11 |
| 108 | Cardiomyopathy, familial hypertrophic, 11 | Enrichment | ACTC1 | 2.11 |
| 109 | Optic nerve hypoplasia, bilateral | Enrichment | PAX6 | 2.11 |
| 110 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 2.11 |
| 111 | Silver-russell syndrome 3 | Enrichment | IGF2 | 2.11 |
| 112 | Osteogenesis imperfecta, type xiii | Enrichment | BMP1 | 2.11 |
| 113 | Cardiomyopathy, familial hypertrophic, 25 | Enrichment | TNNI3 | 2.11 |
| 114 | Angioma, tufted | Enrichment | KDR | 2.11 |
| 115 | Atrial fibrillation, familial, 10 | Enrichment | SCN5A | 2.11 |
| 116 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 2.11 |
| 117 | Cardiomyopathy, dilated, 1dd | Enrichment | TNNT2 | 2.11 |
| 118 | Cardiomyopathy, dilated, 1ff | Enrichment | TNNI3 | 2.11 |
| 119 | Atrial septal defect 5 | Enrichment | ACTC1 | 2.11 |
| 120 | Long qt syndrome 3 | Enrichment | SCN5A | 2.11 |
| 121 | Cardiomyopathy, dilated, 1d | Enrichment | TNNT2 | 2.11 |
| 122 | Sinoatrial node disease | Enrichment | SCN5A | 2.11 |
| 123 | Hyperproinsulinemia | Enrichment | INS | 2.11 |
| 124 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.11 |
| 125 | Atrial septal defect 3 | Enrichment | MYH6 | 2.11 |
| 126 | Bladder exstrophy | Enrichment | ISL1 | 2.11 |
| 127 | Cardiomyopathy, familial hypertrophic, 10 | Enrichment | MYL2 | 2.11 |
| 128 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.11 |
| 129 | 46,xy sex reversal 3 | Enrichment | GATA4 | 2.11 |
| 130 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 2.11 |
| 131 | Aortic valve disease 2 | Enrichment | TBX5 | 2.11 |
| 132 | Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | Enrichment | MYL2 | 2.11 |
| 133 | Proximal symphalangism | Enrichment | NOG | 2.11 |
| 134 | Familial isolated congenital asplenia | Enrichment | NKX2-5 | 2.11 |
| 135 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 2.11 |
| 136 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 2.11 |
| 137 | Deletion 5q35 | Enrichment | NKX2-5 | 2.11 |
| 138 | Isolated atrial standstill | Enrichment | SCN5A | 2.11 |
| 139 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 2.11 |
| 140 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 2.11 |
| 141 | Silver-russell syndrome due to an imprinting defect of 11p15 | Enrichment | IGF2 | 2.11 |
| 142 | Silver-russell syndrome due to 11p15 microduplication | Enrichment | IGF2 | 2.11 |
| 143 | Fetal akinesia deformation sequence 1 | Enrichment | ROR2, SCN5A | 2.04 |
| 144 | Type 1 diabetes mellitus 2 | Enrichment | INS | 1.93 |
| 145 | Spondylocostal dysostosis 5 | Enrichment | MESP2 | 1.93 |
| 146 | Gillespie syndrome | Enrichment | PAX6 | 1.93 |
| 147 | Testicular germ cell cancer | Enrichment | KIT | 1.93 |
| 148 | Familial vesicoureteral reflux | Enrichment | SOX17 | 1.93 |
| 149 | High bone mass osteogenesis imperfecta | Enrichment | BMP1 | 1.93 |
| 150 | Keratoacanthoma | Enrichment | NOTCH1 | 1.93 |
| 151 | Beckwith-wiedemann syndrome due to imprinting defect of 11p15 | Enrichment | IGF2 | 1.93 |
| 152 | Aniridia 1 | Enrichment | PAX6 | 1.81 |
| 153 | Chordoma | Enrichment | TBXT | 1.81 |
| 154 | Microphthalmia, syndromic 3 | Enrichment | SOX2 | 1.81 |
| 155 | Ventricular fibrillation, paroxysmal familial, 1 | Enrichment | SCN5A | 1.81 |
| 156 | Long qt syndrome 2 | Enrichment | SCN5A | 1.81 |
| 157 | Multiple synostoses syndrome | Enrichment | NOG | 1.81 |
| 158 | Atrial fibrillation | Enrichment | SCN5A | 1.81 |
| 159 | Neonatal diabetes mellitus | Enrichment | INS | 1.81 |
| 160 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | KIT | 1.81 |
| 161 | Eyelid coloboma | Enrichment | PAX6 | 1.81 |
| 162 | Sick sinus syndrome | Enrichment | SCN5A | 1.81 |
| 163 | Silver-russell syndrome due to a point mutation | Enrichment | IGF2 | 1.81 |
| 164 | Mitral valve insufficiency | Enrichment | TBX5 | 1.81 |
| 165 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 1.81 |
| 166 | Transposition of the great arteries | Enrichment | GATA4 | 1.81 |
| 167 | Lens coloboma | Enrichment | PAX6 | 1.81 |
| 168 | Paroxysmal familial ventricular fibrillation | Enrichment | SCN5A | 1.81 |
| 169 | Robinow syndrome, autosomal recessive 1 | Enrichment | ROR2 | 1.71 |
| 170 | Atrioventricular septal defect | Enrichment | TBX5 | 1.71 |
| 171 | Insulin-like growth factor i | Enrichment | IGF1 | 1.71 |
| 172 | Congenital heart defects, multiple types, 4 | Enrichment | GATA4 | 1.71 |
| 173 | Heart conduction disease | Enrichment | SCN5A | 1.71 |
| 174 | Cardiac arrest | Enrichment | SCN5A | 1.71 |
| 175 | Acute myeloid leukemia with maturation | Enrichment | KIT | 1.71 |
| 176 | Aniridia | Enrichment | PAX6 | 1.71 |
| 177 | Coloboma of choroid and retina | Enrichment | PAX6 | 1.71 |
| 178 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | KIT | 1.71 |
| 179 | Persistent truncus arteriosus | Enrichment | NKX2-5 | 1.71 |
| 180 | Primary hypereosinophilic syndrome | Enrichment | PDGFRA | 1.71 |
| 181 | Atrial septal defect 1 | Enrichment | TBX5 | 1.63 |
| 182 | Coloboma of optic nerve | Enrichment | PAX6 | 1.63 |
| 183 | Conotruncal heart malformations | Enrichment | NKX2-5 | 1.63 |
| 184 | Hemihyperplasia, isolated | Enrichment | IGF2 | 1.63 |
| 185 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | PAX6 | 1.63 |
| 186 | Type 1 diabetes mellitus | Enrichment | INS | 1.63 |
| 187 | Testicular germ cell tumor | Enrichment | KIT | 1.63 |
| 188 | Hemangioma, capillary infantile | Enrichment | KDR | 1.63 |
| 189 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.63 |
| 190 | Autosomal recessive robinow syndrome | Enrichment | ROR2 | 1.63 |
| 191 | Double outlet right ventricle | Enrichment | NKX2-5 | 1.63 |
| 192 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.63 |
| 193 | Spondylocostal dysostosis, autosomal recessive | Enrichment | MESP2 | 1.63 |
| 194 | Hypothyroidism, congenital, nongoitrous, 2 | Enrichment | NKX2-5 | 1.57 |
| 195 | Silver-russell syndrome 1 | Enrichment | IGF2 | 1.57 |
| 196 | Brugada syndrome 1 | Enrichment | SCN5A | 1.57 |
| 197 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.57 |
| 198 | Spondylocostal dysostosis 1, autosomal recessive | Enrichment | MESP2 | 1.51 |
| 199 | Neuroblastoma | Enrichment | LIN28B | 1.51 |
| 200 | Permanent neonatal diabetes mellitus | Enrichment | INS | 1.51 |
| 201 | Combined pituitary hormone deficiency | Enrichment | FOXA2 | 1.51 |
| 202 | Ventricular septal defect | Enrichment | TBX5 | 1.46 |
| 203 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | SCN5A | 1.46 |
| 204 | Cat eye syndrome | Enrichment | PAX6 | 1.42 |
| 205 | Stickler syndrome | Enrichment | BMP4 | 1.42 |
| 206 | Nanophthalmos | Enrichment | SOX2 | 1.38 |
| 207 | Diabetes mellitus | Enrichment | INS | 1.38 |
| 208 | Heritable pulmonary arterial hypertension | Enrichment | SOX17 | 1.38 |
| 209 | Cardiac conduction defect | Enrichment | SCN5A | 1.34 |
| 210 | Septooptic dysplasia | Enrichment | SOX2 | 1.34 |
| 211 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4 | 1.34 |
| 212 | Lip and oral cavity carcinoma | Enrichment | KIT | 1.34 |
| 213 | Congenital long qt syndrome | Enrichment | SCN5A | 1.34 |
| 214 | Microphthalmia/coloboma 12 | Enrichment | PAX6 | 1.30 |
| 215 | Neural tube defects | Enrichment | TBXT | 1.30 |
| 216 | Pulmonary hypertension, primary, 1 | Enrichment | SOX17 | 1.30 |
| 217 | 46,xy partial gonadal dysgenesis | Enrichment | GATA4 | 1.27 |
| 218 | Coloboma of macula | Enrichment | PAX6 | 1.24 |
| 219 | Wilms tumor 1 | Enrichment | IGF2 | 1.24 |
| 220 | Congenital myopathy 4a, autosomal dominant | Enrichment | MYL2 | 1.24 |
| 221 | Osteogenesis imperfecta, type iii | Enrichment | BMP1 | 1.24 |
| 222 | Anterior segment dysgenesis | Enrichment | PAX6 | 1.24 |
| 223 | Septopreoptic holoprosencephaly | Enrichment | NODAL | 1.24 |
| 224 | Midline interhemispheric variant of holoprosencephaly | Enrichment | NODAL | 1.24 |
| 225 | Ovarian cancer | Enrichment | KIT, PDGFRA | 1.23 |
| 226 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | SCN5A | 1.22 |
| 227 | Microform holoprosencephaly | Enrichment | NODAL | 1.22 |
| 228 | Lobar holoprosencephaly | Enrichment | NODAL | 1.22 |
| 229 | Alobar holoprosencephaly | Enrichment | NODAL | 1.19 |
| 230 | Beckwith-wiedemann syndrome | Enrichment | IGF2 | 1.17 |
| 231 | Semilobar holoprosencephaly | Enrichment | NODAL | 1.17 |
| 232 | Maturity-onset diabetes of the young | Enrichment | INS | 1.12 |
| 233 | Cardiomyopathy, dilated, 1a | Enrichment | TNNI3 | 1.10 |
| 234 | Visceral heterotaxy | Enrichment | NODAL | 1.08 |
| 235 | Brittle bone disorder | Enrichment | BMP1 | 1.06 |
| 236 | Inherited cancer-predisposing syndrome | Enrichment | KIT, PDGFRA | 1.03 |
| 237 | Brugada syndrome | Enrichment | SCN5A | 1.01 |
| 238 | Visceral heterotaxy 5 | Enrichment | NODAL | 0.94 |
| 239 | Cystic fibrosis | Enrichment | TGFB1 | 0.93 |
| 240 | Connective tissue disease | Enrichment | NOTCH1 | 0.93 |
| 241 | Leukemia, acute myeloid | Enrichment | KIT | 0.84 |
| 242 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1 | 0.80 |
| 243 | Hypertelorism | Enrichment | PAX6 | 0.73 |
| 244 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | GATA4 | 0.71 |
| 245 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MEF2C | 0.69 |
| 246 | Primary ovarian insufficiency | Enrichment | KDR | 0.68 |
| 247 | Colorectal cancer | Enrichment | IGF2 | 0.54 |
| 248 | Autism spectrum disorder | Enrichment | MEF2C | 0.46 |