| 1 | Tetralogy of fallot | Enrichment | GATA4, GATA6, HEY2, KDR, NOTCH1 | 7.70 |
| 2 | Acute basophilic leukemia | Enrichment | GATA1, MYB | 4.97 |
| 3 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2, STAT3 | 4.49 |
| 4 | Congenital heart defects, multiple types, 4 | Enrichment | GATA4, GATA6 | 3.97 |
| 5 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 3.80 |
| 6 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 3.80 |
| 7 | Adams-oliver syndrome | Enrichment | NOTCH1, RBPJ | 3.65 |
| 8 | Aortic aneurysm, familial thoracic 1 | Enrichment | GATA4, NOTCH1 | 3.02 |
| 9 | Heart disease | Enrichment | CREBBP, GATA4 | 3.02 |
| 10 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300 | 2.96 |
| 11 | Patent foramen ovale | Enrichment | GATA4, GATA6 | 2.80 |
| 12 | Diffuse large b-cell lymphoma | Enrichment | CREBBP, STAT3 | 2.75 |
| 13 | Familial atrial fibrillation | Enrichment | GATA4, GATA6 | 2.55 |
| 14 | Glycoprotein storage disease | Enrichment | GAA | 2.48 |
| 15 | Prostate cancer, hereditary, x-linked 3 | Enrichment | AR | 2.48 |
| 16 | Androgen insensitivity, partial | Enrichment | AR | 2.48 |
| 17 | Anemia, congenital, nonspherocytic hemolytic, 9 | Enrichment | GATA1 | 2.48 |
| 18 | Thrombocytopenia, x-linked, with or without dyserythropoietic anemia | Enrichment | GATA1 | 2.48 |
| 19 | Thrombocytopenia with beta-thalassemia, x-linked | Enrichment | GATA1 | 2.48 |
| 20 | Seckel syndrome 2 | Enrichment | RBBP8 | 2.48 |
| 21 | Diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency | Enrichment | NEUROG3 | 2.48 |
| 22 | Pancreatic and cerebellar agenesis | Enrichment | PTF1A | 2.48 |
| 23 | Atrioventricular septal defect 4 | Enrichment | GATA4 | 2.48 |
| 24 | Atrioventricular septal defect 5 | Enrichment | GATA6 | 2.48 |
| 25 | Agammaglobulinemia 8b, autosomal recessive | Enrichment | TCF3 | 2.48 |
| 26 | Anemia, x-linked, with or without neutropenia and/or platelet abnormalities | Enrichment | GATA1 | 2.48 |
| 27 | Okt4 epitope deficiency | Enrichment | CD4 | 2.48 |
| 28 | Laron syndrome | Enrichment | GHR | 2.48 |
| 29 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.48 |
| 30 | Jawad syndrome | Enrichment | RBBP8 | 2.48 |
| 31 | Growth hormone insensitivity, partial | Enrichment | GHR | 2.48 |
| 32 | Agammaglobulinemia 8a, autosomal dominant | Enrichment | TCF3 | 2.48 |
| 33 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.48 |
| 34 | Atrial septal defect 2 | Enrichment | GATA4 | 2.48 |
| 35 | Cleft palate, psychomotor retardation, and distinctive facial features | Enrichment | KDM1A | 2.48 |
| 36 | Congenital myopathy 17 | Enrichment | MYOD1 | 2.48 |
| 37 | Testicular anomalies with or without congenital heart disease | Enrichment | GATA4 | 2.48 |
| 38 | Radio-tartaglia syndrome | Enrichment | SPEN | 2.48 |
| 39 | Atrial septal defect 9 | Enrichment | GATA6 | 2.48 |
| 40 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.48 |
| 41 | 8p23.1 microdeletion syndrome | Enrichment | GATA4 | 2.48 |
| 42 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.48 |
| 43 | Immunodeficiency 79 | Enrichment | CD4 | 2.48 |
| 44 | Tufted angioma of skin | Enrichment | KDR | 2.48 |
| 45 | Trilateral retinoblastoma | Enrichment | RB1 | 2.48 |
| 46 | Acute megakaryoblastic leukemia in children with down syndrome | Enrichment | GATA1 | 2.48 |
| 47 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | Enrichment | KDM1A | 2.48 |
| 48 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.48 |
| 49 | Thrombocytopenia with congenital dyserythropoietic anemia | Enrichment | GATA1 | 2.48 |
| 50 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.48 |
| 51 | Acth-independent macronodular adrenal hyperplasia 3 | Enrichment | KDM1A | 2.48 |
| 52 | Pompe disease, late-onset | Enrichment | GAA | 2.48 |
| 53 | Complete androgen insensitivity syndrome | Enrichment | AR | 2.48 |
| 54 | Partial atrioventricular septal defect with ventricular hypoplasia | Enrichment | GATA4 | 2.48 |
| 55 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.48 |
| 56 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.48 |
| 57 | Lung oat cell carcinoma | Enrichment | RB1 | 2.48 |
| 58 | Ovarian cancer | Enrichment | AR, CDKN1B, RB1 | 2.34 |
| 59 | Myeloproliferative syndrome, transient | Enrichment | GATA1 | 2.18 |
| 60 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 2.18 |
| 61 | Pancreas, dorsal, agenesis of | Enrichment | PTF1A | 2.18 |
| 62 | Robinow-sorauf syndrome | Enrichment | TWIST1 | 2.18 |
| 63 | Thumb deformity | Enrichment | CREBBP | 2.18 |
| 64 | Spinal and bulbar muscular atrophy, x-linked 1 | Enrichment | AR | 2.18 |
| 65 | Porphyria, congenital erythropoietic | Enrichment | GATA1 | 2.18 |
| 66 | Kallikrein, decreased urinary activity of | Enrichment | PTF1A | 2.18 |
| 67 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 2.18 |
| 68 | Growth hormone deficiency, isolated partial | Enrichment | GHR | 2.18 |
| 69 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.18 |
| 70 | Angioma, tufted | Enrichment | KDR | 2.18 |
| 71 | Thrombocythemia 3 | Enrichment | JAK2 | 2.18 |
| 72 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.18 |
| 73 | Adams-oliver syndrome 3 | Enrichment | RBPJ | 2.18 |
| 74 | Neutropenia, severe congenital, 8, autosomal dominant | Enrichment | GATA6 | 2.18 |
| 75 | Gabriele-de vries syndrome | Enrichment | YY1 | 2.18 |
| 76 | Sweeney-cox syndrome | Enrichment | TWIST1 | 2.18 |
| 77 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | Enrichment | CTBP1 | 2.18 |
| 78 | 46,xy sex reversal 1 | Enrichment | AR | 2.18 |
| 79 | Androgen insensitivity syndrome | Enrichment | AR | 2.18 |
| 80 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.18 |
| 81 | Hypospadias 1, x-linked | Enrichment | AR | 2.18 |
| 82 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.18 |
| 83 | Pancreatic agenesis 2 | Enrichment | PTF1A | 2.18 |
| 84 | 46,xy sex reversal 3 | Enrichment | GATA4 | 2.18 |
| 85 | Angiocentric glioma | Enrichment | MYB | 2.18 |
| 86 | Developmental and epileptic encephalopathy 78 | Enrichment | YY1 | 2.18 |
| 87 | Insulinoma | Enrichment | YY1 | 2.18 |
| 88 | Polycythemia | Enrichment | JAK2 | 2.18 |
| 89 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | Enrichment | TCF3 | 2.18 |
| 90 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.18 |
| 91 | Posterior hypospadias | Enrichment | AR | 2.18 |
| 92 | Familial retinoblastoma | Enrichment | RB1 | 2.18 |
| 93 | Non-syndromic sagittal craniosynostosis | Enrichment | TWIST1 | 2.18 |
| 94 | B-lymphoblastic leukemia/lymphoma with t(17;19) | Enrichment | TCF3 | 2.18 |
| 95 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | HEY2, NOTCH1 | 2.03 |
| 96 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 2.00 |
| 97 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.00 |
| 98 | Craniosynostosis 1 | Enrichment | TWIST1 | 2.00 |
| 99 | Retinoblastoma | Enrichment | RB1 | 2.00 |
| 100 | Glycogen storage disease iv | Enrichment | GAA | 2.00 |
| 101 | Polycythemia vera | Enrichment | JAK2 | 2.00 |
| 102 | Pompe disease, infantile-onset | Enrichment | GAA | 2.00 |
| 103 | Heart defects, congenital, and other congenital anomalies | Enrichment | GATA6 | 2.00 |
| 104 | Osteogenic sarcoma | Enrichment | RB1 | 2.00 |
| 105 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 2.00 |
| 106 | Hypotrichosis 8 | Enrichment | RB1 | 2.00 |
| 107 | Tethered spinal cord syndrome | Enrichment | CREBBP | 2.00 |
| 108 | Hyper ige syndrome | Enrichment | STAT3 | 2.00 |
| 109 | Cleidocranial dysplasia | Enrichment | RUNX2 | 2.00 |
| 110 | Squamous cell carcinoma | Enrichment | RB1 | 2.00 |
| 111 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 2.00 |
| 112 | Bone osteosarcoma | Enrichment | RB1 | 2.00 |
| 113 | Adenoid cystic carcinoma | Enrichment | MYB | 2.00 |
| 114 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | KDM1A | 2.00 |
| 115 | Enchondromatosis | Enrichment | HIF1A | 2.00 |
| 116 | Keratoacanthoma | Enrichment | NOTCH1 | 2.00 |
| 117 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.88 |
| 118 | Small cell cancer of the lung | Enrichment | RB1 | 1.88 |
| 119 | Glycogen storage disease ia | Enrichment | GAA | 1.88 |
| 120 | Down syndrome | Enrichment | GATA1 | 1.88 |
| 121 | Budd-chiari syndrome | Enrichment | JAK2 | 1.88 |
| 122 | Saethre-chotzen syndrome | Enrichment | TWIST1 | 1.88 |
| 123 | Lynch syndrome 4 | Enrichment | RB1 | 1.88 |
| 124 | Non-syndromic bicoronal craniosynostosis | Enrichment | TWIST1 | 1.88 |
| 125 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.88 |
| 126 | Transposition of the great arteries | Enrichment | GATA4 | 1.88 |
| 127 | Haddad syndrome | Enrichment | ASCL1 | 1.88 |
| 128 | Middle aortic syndrome | Enrichment | GATA6 | 1.88 |
| 129 | Myeloma, multiple | Enrichment | CREBBP, TCF3 | 1.83 |
| 130 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | AR, GATA4 | 1.83 |
| 131 | Primary ovarian insufficiency | Enrichment | JAK2, KDR | 1.79 |
| 132 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.78 |
| 133 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.78 |
| 134 | Ventricular septal defect 1 | Enrichment | GATA4 | 1.78 |
| 135 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.78 |
| 136 | Acute megakaryocytic leukemia | Enrichment | GATA1 | 1.78 |
| 137 | Persistent truncus arteriosus | Enrichment | GATA6 | 1.78 |
| 138 | Myopathy, centronuclear, 1 | Enrichment | MYOD1 | 1.70 |
| 139 | Wolf-hirschhorn syndrome | Enrichment | CTBP1 | 1.70 |
| 140 | Conotruncal heart malformations | Enrichment | GATA6 | 1.70 |
| 141 | Hemangioma, capillary infantile | Enrichment | KDR | 1.70 |
| 142 | Hypertrichosis | Enrichment | CREBBP | 1.70 |
| 143 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.64 |
| 144 | Myelofibrosis | Enrichment | JAK2 | 1.64 |
| 145 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.64 |
| 146 | Essential thrombocythemia | Enrichment | JAK2 | 1.64 |
| 147 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.58 |
| 148 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.58 |
| 149 | Difference of sex development | Enrichment | AR | 1.58 |
| 150 | Charge syndrome | Enrichment | EP300 | 1.53 |
| 151 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.53 |
| 152 | Autosomal non-syndromic agammaglobulinemia | Enrichment | TCF3 | 1.49 |
| 153 | 46,xy complete gonadal dysgenesis | Enrichment | AR | 1.44 |
| 154 | Glycogen storage disease | Enrichment | GAA | 1.44 |
| 155 | Specific learning disability | Enrichment | GHR | 1.44 |
| 156 | Lip and oral cavity carcinoma | Enrichment | RB1 | 1.41 |
| 157 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.37 |
| 158 | Diaphragmatic hernia, congenital | Enrichment | GATA6 | 1.37 |
| 159 | Hypercholesterolemia, familial, 1 | Enrichment | GHR | 1.37 |
| 160 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.37 |
| 161 | Chromosome 1p36 deletion syndrome | Enrichment | SPEN | 1.37 |
| 162 | Protein-deficiency anemia | Enrichment | GATA1 | 1.37 |
| 163 | Lung cancer susceptibility 3 | Enrichment | RB1 | 1.34 |
| 164 | Seckel syndrome | Enrichment | RBBP8 | 1.34 |
| 165 | 46,xy partial gonadal dysgenesis | Enrichment | GATA4 | 1.34 |
| 166 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.31 |
| 167 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.31 |
| 168 | Familial hypercholesterolemia | Enrichment | GHR | 1.31 |
| 169 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.31 |
| 170 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.31 |
| 171 | Creatine phosphokinase, elevated serum | Enrichment | GAA | 1.29 |
| 172 | Isolated elevated serum creatine phosphokinase levels | Enrichment | GAA | 1.29 |
| 173 | Heart, malformation of | Enrichment | GATA4 | 1.24 |
| 174 | Maturity-onset diabetes of the young | Enrichment | PTF1A | 1.19 |
| 175 | Inherited cancer-predisposing syndrome | Enrichment | CDKN1B, RB1 | 1.15 |
| 176 | Diamond-blackfan anemia 1 | Enrichment | GATA1 | 1.13 |
| 177 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYB | 1.13 |
| 178 | Scoliosis | Enrichment | CREBBP | 1.12 |
| 179 | Pancreatic cancer | Enrichment | RBBP8 | 1.10 |
| 180 | Bladder cancer | Enrichment | RB1 | 1.04 |
| 181 | Prostate cancer | Enrichment | AR | 1.04 |
| 182 | Connective tissue disease | Enrichment | NOTCH1 | 1.00 |
| 183 | Male infertility | Enrichment | AR | 0.97 |
| 184 | Diamond-blackfan anemia | Enrichment | GATA1 | 0.95 |
| 185 | Fetal akinesia deformation sequence 1 | Enrichment | MYOD1 | 0.94 |
| 186 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.90 |
| 187 | Myopathy | Enrichment | GAA | 0.90 |
| 188 | Type 2 diabetes mellitus | Enrichment | RBPJ | 0.88 |
| 189 | Distal arthrogryposis | Enrichment | MYOD1 | 0.88 |
| 190 | Nephrotic syndrome | Enrichment | RUNX2 | 0.88 |
| 191 | Thrombocytopenia | Enrichment | GATA1 | 0.83 |
| 192 | Autism | Enrichment | CREBBP | 0.67 |
| 193 | Rare genetic deafness | Enrichment | GAA | 0.64 |
| 194 | Dilated cardiomyopathy | Enrichment | GATA6 | 0.63 |
| 195 | Colorectal cancer | Enrichment | EP300 | 0.60 |
| 196 | Congenital nervous system abnormality | Enrichment | CREBBP | 0.53 |
| 197 | Nervous system disease | Enrichment | CREBBP | 0.53 |
| 198 | Autism spectrum disorder | Enrichment | SPEN | 0.52 |
| 199 | Microcephaly | Enrichment | EP300 | 0.47 |