| 1 | Type 2 diabetes mellitus | Enrichment | HMGA1, HNF1A, IL6, IRS1, IRS2, PPARG, RETN, SLC2A4 | 8.26 |
| 2 | Type 1 diabetes mellitus | Enrichment | HNF1A, IL6, INS | 4.76 |
| 3 | Familial partial lipodystrophy | Enrichment | LMNA, PPARG | 4.03 |
| 4 | Acute promyelocytic leukemia | Enrichment | RARA, STAT3, STAT5B | 3.63 |
| 5 | Restrictive dermopathy 1 | Enrichment | LMNA, ZMPSTE24 | 3.56 |
| 6 | Stuve-wiedemann syndrome 1 | Enrichment | IL6ST, LIFR | 3.56 |
| 7 | Restrictive dermopathy | Enrichment | LMNA, ZMPSTE24 | 3.56 |
| 8 | Phosphoenolpyruvate carboxykinase deficiency | Enrichment | PCK1, PCK2 | 3.56 |
| 9 | Stüve-wiedemann syndrome | Enrichment | IL6ST, LIFR | 3.56 |
| 10 | Hutchinson-gilford progeria syndrome | Enrichment | LMNA, ZMPSTE24 | 3.26 |
| 11 | Lipodystrophy, familial partial, type 3 | Enrichment | BSCL2, PPARG | 3.26 |
| 12 | Leptin deficiency or dysfunction | Enrichment | LEP, PPARG | 3.26 |
| 13 | Congenital generalized lipodystrophy | Enrichment | AGPAT2, PPARG | 3.26 |
| 14 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6, MIF | 3.26 |
| 15 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1, WWTR1 | 3.26 |
| 16 | Diffuse large b-cell lymphoma | Enrichment | FOXO1, SOCS1, STAT3 | 3.12 |
| 17 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6, MIF | 3.04 |
| 18 | Ventricular septal defect 1 | Enrichment | BMP2, GATA4 | 3.04 |
| 19 | Permanent neonatal diabetes mellitus | Enrichment | INS, STAT3 | 2.60 |
| 20 | Bladder cancer | Enrichment | CDKN1A, CTNNB1, RB1 | 2.57 |
| 21 | Cakut | Enrichment | GATA3, LIFR, NRIP1 | 2.37 |
| 22 | Diabetes mellitus | Enrichment | HNF1A, INS | 2.32 |
| 23 | Aortic aneurysm, familial thoracic 1 | Enrichment | GATA4, SMAD3 | 2.11 |
| 24 | Osteogenesis imperfecta, type iii | Enrichment | BMP1, WNT1 | 2.05 |
| 25 | Hepatic adenomas, familial | Enrichment | HNF1A | 2.02 |
| 26 | Hypothyroidism, congenital, nongoitrous, 9 | Enrichment | IRS4 | 2.02 |
| 27 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | Enrichment | PCK1 | 2.02 |
| 28 | Suppression of tumorigenicity 12 | Enrichment | KLF6 | 2.02 |
| 29 | Charcot-marie-tooth disease, demyelinating, type 1d | Enrichment | EGR2 | 2.02 |
| 30 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 2.02 |
| 31 | Complement factor d deficiency | Enrichment | CFD | 2.02 |
| 32 | Mucoepithelial dysplasia, hereditary | Enrichment | SREBF1 | 2.02 |
| 33 | Split-hand/foot malformation 6 | Enrichment | WNT10B | 2.02 |
| 34 | Multiple fibroadenomas of the breast | Enrichment | PRLR | 2.02 |
| 35 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.02 |
| 36 | Tooth agenesis, selective, 8 | Enrichment | WNT10B | 2.02 |
| 37 | Atrioventricular septal defect 4 | Enrichment | GATA4 | 2.02 |
| 38 | Retinitis pigmentosa 85 | Enrichment | AHR | 2.02 |
| 39 | Pseudo-torch syndrome 3 | Enrichment | STAT2 | 2.02 |
| 40 | Stuve-wiedemann syndrome 2 | Enrichment | IL6ST | 2.02 |
| 41 | Pyle disease | Enrichment | SFRP4 | 2.02 |
| 42 | Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections | Enrichment | IL6ST | 2.02 |
| 43 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.02 |
| 44 | Brunet-wagner neurodevelopmental syndrome | Enrichment | RBL2 | 2.02 |
| 45 | Hyper-ige syndrome 6, autosomal dominant, with recurrent infections | Enrichment | STAT6 | 2.02 |
| 46 | Lymphedema, primary, with myelodysplasia | Enrichment | GATA2 | 2.02 |
| 47 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.02 |
| 48 | Lipodystrophy, congenital generalized, type 1 | Enrichment | AGPAT2 | 2.02 |
| 49 | Foveal hypoplasia 3 | Enrichment | AHR | 2.02 |
| 50 | Ifap syndrome 2 | Enrichment | SREBF1 | 2.02 |
| 51 | Orofacial cleft 11 | Enrichment | BMP4 | 2.02 |
| 52 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.02 |
| 53 | Hyperprolactinemia | Enrichment | PRLR | 2.02 |
| 54 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.02 |
| 55 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 2.02 |
| 56 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.02 |
| 57 | Coronary artery disease, autosomal dominant, 1 | Enrichment | MEF2A | 2.02 |
| 58 | Atrial septal defect 2 | Enrichment | GATA4 | 2.02 |
| 59 | Majeed syndrome | Enrichment | LPIN2 | 2.02 |
| 60 | Erythrocytosis, familial, 4 | Enrichment | EPAS1 | 2.02 |
| 61 | Radiohumeral fusions with other skeletal and craniofacial anomalies | Enrichment | CYP26B1 | 2.02 |
| 62 | Immunodeficiency 21 | Enrichment | GATA2 | 2.02 |
| 63 | Immunodeficiency 31a | Enrichment | STAT1 | 2.02 |
| 64 | Testicular anomalies with or without congenital heart disease | Enrichment | GATA4 | 2.02 |
| 65 | Skin/hair/eye pigmentation, variation in, 9 | Enrichment | ASIP | 2.02 |
| 66 | Immunodeficiency 31b | Enrichment | STAT1 | 2.02 |
| 67 | Type 1 diabetes mellitus 20 | Enrichment | HNF1A | 2.02 |
| 68 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.02 |
| 69 | Congenital anomalies of kidney and urinary tract 3 | Enrichment | NRIP1 | 2.02 |
| 70 | 20p12.3 microdeletion syndrome | Enrichment | BMP2 | 2.02 |
| 71 | Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections | Enrichment | IL6ST | 2.02 |
| 72 | Atypical werner syndrome | Enrichment | LMNA | 2.02 |
| 73 | 8p23.1 microdeletion syndrome | Enrichment | GATA4 | 2.02 |
| 74 | Immunodeficiency 94 with autoinflammation and dysmorphic facies | Enrichment | IL6ST | 2.02 |
| 75 | Deafness-lymphedema-leukemia syndrome | Enrichment | GATA2 | 2.02 |
| 76 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | Enrichment | BMP2 | 2.02 |
| 77 | Lethal occipital encephalocele-skeletal dysplasia syndrome | Enrichment | CYP26B1 | 2.02 |
| 78 | Trilateral retinoblastoma | Enrichment | RB1 | 2.02 |
| 79 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.02 |
| 80 | Pparg-associated congenital generalized lipodystrophy | Enrichment | PPARG | 2.02 |
| 81 | Mandibuloacral dysplasia | Enrichment | LMNA | 2.02 |
| 82 | Atrioventricular block | Enrichment | LMNA | 2.02 |
| 83 | Charcot-marie-tooth disease type 1d | Enrichment | EGR2 | 2.02 |
| 84 | Familial hyperprolactinemia | Enrichment | PRLR | 2.02 |
| 85 | Multiple paragangliomas associated with polycythemia | Enrichment | EPAS1 | 2.02 |
| 86 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.02 |
| 87 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 2.02 |
| 88 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 2.02 |
| 89 | Acute myeloid leukemia with mutated cebpa | Enrichment | CEBPA | 2.02 |
| 90 | Partial atrioventricular septal defect with ventricular hypoplasia | Enrichment | GATA4 | 2.02 |
| 91 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.02 |
| 92 | Lmna-related cardiocutaneous progeria syndrome | Enrichment | LMNA | 2.02 |
| 93 | Recurrent neisseria infections due to factor d deficiency | Enrichment | CFD | 2.02 |
| 94 | Mef2c-related disorder | Enrichment | MEF2C | 2.02 |
| 95 | Autosomal semi-dominant severe lipodystrophic laminopathy | Enrichment | LMNA | 2.02 |
| 96 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.02 |
| 97 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.02 |
| 98 | Autosomal recessive axonal hereditary motor and sensory neuropathy | Enrichment | LMNA | 2.02 |
| 99 | Laminopathy | Enrichment | LMNA | 2.02 |
| 100 | Lung oat cell carcinoma | Enrichment | RB1 | 2.02 |
| 101 | Hypertension, essential | Enrichment | AGT, PTGIS | 1.94 |
| 102 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | BSCL2, LMNA | 1.85 |
| 103 | Maturity-onset diabetes of the young | Enrichment | HNF1A, INS | 1.80 |
| 104 | Cardiomyopathy, dilated, 1a | Enrichment | LMNA, LPL | 1.76 |
| 105 | Cyclic neutropenia | Enrichment | CFD | 1.72 |
| 106 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome | Enrichment | GATA3 | 1.72 |
| 107 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.72 |
| 108 | Hyperlipoproteinemia, type i | Enrichment | LPL | 1.72 |
| 109 | Hemangiopericytoma, malignant | Enrichment | STAT6 | 1.72 |
| 110 | Galactosemia ii | Enrichment | NR3C1 | 1.72 |
| 111 | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | Enrichment | PCK2 | 1.72 |
| 112 | Robinow-sorauf syndrome | Enrichment | TWIST1 | 1.72 |
| 113 | Mandibuloacral dysplasia with type a lipodystrophy | Enrichment | LMNA | 1.72 |
| 114 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 1.72 |
| 115 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.72 |
| 116 | Carotid intimal medial thickness 1 | Enrichment | PPARG | 1.72 |
| 117 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.72 |
| 118 | Heart-hand syndrome, slovenian type | Enrichment | LMNA | 1.72 |
| 119 | Lymphedema-distichiasis syndrome | Enrichment | FOXC2 | 1.72 |
| 120 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | Enrichment | EGR2 | 1.72 |
| 121 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 1.72 |
| 122 | Charcot-marie-tooth disease, axonal, type 2b1 | Enrichment | LMNA | 1.72 |
| 123 | Encephalopathy, progressive, with or without lipodystrophy | Enrichment | BSCL2 | 1.72 |
| 124 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism | Enrichment | LMNA | 1.72 |
| 125 | Lipase deficiency, combined | Enrichment | LPL | 1.72 |
| 126 | Osteogenesis imperfecta, type xiii | Enrichment | BMP1 | 1.72 |
| 127 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 1.72 |
| 128 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 1.72 |
| 129 | Cardiomyopathy, dilated, 1ff | Enrichment | KLF5 | 1.72 |
| 130 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.72 |
| 131 | Immunodeficiency 31c | Enrichment | STAT1 | 1.72 |
| 132 | Cardiomyopathy, dilated, 1d | Enrichment | LMNA | 1.72 |
| 133 | Restrictive dermopathy 2 | Enrichment | LMNA | 1.72 |
| 134 | Hyperproinsulinemia | Enrichment | INS | 1.72 |
| 135 | Sweeney-cox syndrome | Enrichment | TWIST1 | 1.72 |
| 136 | Emery-dreifuss muscular dystrophy 3, autosomal recessive | Enrichment | LMNA | 1.72 |
| 137 | Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities | Enrichment | BORCS8-MEF2B | 1.72 |
| 138 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.72 |
| 139 | Kowarski syndrome | Enrichment | GH1 | 1.72 |
| 140 | Immunodeficiency 127 | Enrichment | TNF | 1.72 |
| 141 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.72 |
| 142 | Mandibuloacral dysplasia with type b lipodystrophy | Enrichment | ZMPSTE24 | 1.72 |
| 143 | Neuronopathy, distal hereditary motor, autosomal dominant 13 | Enrichment | BSCL2 | 1.72 |
| 144 | Central precocious puberty | Enrichment | DLK1 | 1.72 |
| 145 | Lipodystrophy, familial partial, type 1 | Enrichment | LMNA | 1.72 |
| 146 | Erythrocytosis, familial, 3 | Enrichment | EPAS1 | 1.72 |
| 147 | Bosch-boonstra-schaaf optic atrophy syndrome | Enrichment | NR2F1 | 1.72 |
| 148 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.72 |
| 149 | 46,xy sex reversal 3 | Enrichment | GATA4 | 1.72 |
| 150 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 1.72 |
| 151 | Familial lipoprotein lipase deficiency | Enrichment | LPL | 1.72 |
| 152 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | Enrichment | GATA3 | 1.72 |
| 153 | Hypoparathyroidism-deafness-renal disease syndrome | Enrichment | GATA3 | 1.72 |
| 154 | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | Enrichment | RORA | 1.72 |
| 155 | Craniosynostosis 7 | Enrichment | BMP2 | 1.72 |
| 156 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.72 |
| 157 | Severe neurodegenerative syndrome with lipodystrophy | Enrichment | BSCL2 | 1.72 |
| 158 | Short stature due to growth hormone qualitative anomaly | Enrichment | GH1 | 1.72 |
| 159 | Autosomal dominant nonsyndromic deafness | Enrichment | GATA3 | 1.72 |
| 160 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 1.72 |
| 161 | Hyperinsulinism due to hnf1a deficiency | Enrichment | HNF1A | 1.72 |
| 162 | Teratoma | Enrichment | CTNNB1 | 1.72 |
| 163 | Familial retinoblastoma | Enrichment | RB1 | 1.72 |
| 164 | Non-syndromic sagittal craniosynostosis | Enrichment | TWIST1 | 1.72 |
| 165 | Charcot-marie-tooth disease type 2b1 | Enrichment | LMNA | 1.72 |
| 166 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 1.72 |
| 167 | Brittle bone disorder | Enrichment | BMP1, WNT1 | 1.69 |
| 168 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.54 |
| 169 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.54 |
| 170 | Craniosynostosis 1 | Enrichment | TWIST1 | 1.54 |
| 171 | Type 1 diabetes mellitus 2 | Enrichment | INS | 1.54 |
| 172 | Retinoblastoma | Enrichment | RB1 | 1.54 |
| 173 | Neutropenia, severe congenital, 1, autosomal dominant | Enrichment | CFD | 1.54 |
| 174 | Immune thrombocytopenia | Enrichment | SOCS1 | 1.54 |
| 175 | Ifap syndrome 1, with or without bresheck syndrome | Enrichment | SREBF1 | 1.54 |
| 176 | Myoglobinuria, acute recurrent, autosomal recessive | Enrichment | LPIN1 | 1.54 |
| 177 | Osteogenic sarcoma | Enrichment | RB1 | 1.54 |
| 178 | Osteoporosis, juvenile | Enrichment | WNT1 | 1.54 |
| 179 | Transposition of the great arteries, dextro-looped | Enrichment | BMP2 | 1.54 |
| 180 | Psoriatic arthritis | Enrichment | TNF | 1.54 |
| 181 | Adiponectin deficiency | Enrichment | ADIPOQ | 1.54 |
| 182 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.54 |
| 183 | Lipodystrophy, familial partial, type 2 | Enrichment | LMNA | 1.54 |
| 184 | Lipodystrophy, familial partial, type 6 | Enrichment | LIPE | 1.54 |
| 185 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.54 |
| 186 | Lipodystrophy, familial partial, type 4 | Enrichment | PLIN1 | 1.54 |
| 187 | Muscular dystrophy, congenital, lmna-related | Enrichment | LMNA | 1.54 |
| 188 | Anus, imperforate | Enrichment | CTNNB1 | 1.54 |
| 189 | Autoinflammatory syndrome, familial, with or without immunodeficiency | Enrichment | SOCS1 | 1.54 |
| 190 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.54 |
| 191 | Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | Enrichment | HNF1A | 1.54 |
| 192 | Hypotrichosis 8 | Enrichment | RB1 | 1.54 |
| 193 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 1.54 |
| 194 | Desmoid tumor | Enrichment | CTNNB1 | 1.54 |
| 195 | Hyper ige syndrome | Enrichment | STAT3 | 1.54 |
| 196 | Precocious puberty, central, 2 | Enrichment | DLK1 | 1.54 |
| 197 | Isolated growth hormone deficiency, type ib | Enrichment | GH1 | 1.54 |
| 198 | Chromophobe renal cell carcinoma | Enrichment | HNF1A | 1.54 |
| 199 | Myxoid liposarcoma | Enrichment | DDIT3 | 1.54 |
| 200 | Squamous cell carcinoma | Enrichment | RB1 | 1.54 |
| 201 | Migraine without aura | Enrichment | TNF | 1.54 |
| 202 | Immunodeficiency 44 | Enrichment | STAT2 | 1.54 |
| 203 | Charcot-marie-tooth disease type 1 | Enrichment | EGR2 | 1.54 |
| 204 | End stage renal disease | Enrichment | GATA3 | 1.54 |
| 205 | Bone osteosarcoma | Enrichment | RB1 | 1.54 |
| 206 | High bone mass osteogenesis imperfecta | Enrichment | BMP1 | 1.54 |
| 207 | Melanoma of soft tissue | Enrichment | CREB1 | 1.54 |
| 208 | Enchondromatosis | Enrichment | HIF1A | 1.54 |
| 209 | Vogt-koyanagi-harada disease | Enrichment | FAS | 1.54 |
| 210 | Cystic fibrosis | Enrichment | MIF, TGFB1 | 1.42 |
| 211 | Peripheral nervous system disease | Enrichment | BSCL2, LMNA | 1.42 |
| 212 | Neuropathy | Enrichment | BSCL2, LMNA | 1.42 |
| 213 | Kaposi sarcoma | Enrichment | IL6 | 1.42 |
| 214 | Isolated growth hormone deficiency, type ii | Enrichment | GH1 | 1.42 |
| 215 | Brachydactyly, type a2 | Enrichment | BMP2 | 1.42 |
| 216 | Small cell cancer of the lung | Enrichment | RB1 | 1.42 |
| 217 | Anemia, autoimmune hemolytic | Enrichment | SOCS1 | 1.42 |
| 218 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1 | 1.42 |
| 219 | Emery-dreifuss muscular dystrophy 1, x-linked | Enrichment | LMNA | 1.42 |
| 220 | Spastic paraplegia 17, autosomal dominant | Enrichment | BSCL2 | 1.42 |
| 221 | Autoimmune lymphoproliferative syndrome | Enrichment | FAS | 1.42 |
| 222 | Microtia-anotia | Enrichment | LMNA | 1.42 |
| 223 | Lipodystrophy, congenital generalized, type 2 | Enrichment | BSCL2 | 1.42 |
| 224 | Kagami-ogata syndrome | Enrichment | DLK1 | 1.42 |
| 225 | Maturity-onset diabetes of the young, type 3 | Enrichment | HNF1A | 1.42 |
| 226 | Saethre-chotzen syndrome | Enrichment | TWIST1 | 1.42 |
| 227 | Pilomatrixoma | Enrichment | CTNNB1 | 1.42 |
| 228 | Schaaf-yang syndrome | Enrichment | NDN | 1.42 |
| 229 | Temple syndrome | Enrichment | DLK1 | 1.42 |
| 230 | Lynch syndrome 4 | Enrichment | RB1 | 1.42 |
| 231 | Alazami syndrome | Enrichment | CTNNB1 | 1.42 |
| 232 | Neonatal diabetes mellitus | Enrichment | INS | 1.42 |
| 233 | Emery-dreifuss muscular dystrophy | Enrichment | LMNA | 1.42 |
| 234 | Malignant epithelioid hemangioendothelioma | Enrichment | WWTR1 | 1.42 |
| 235 | Aortic aneurysm | Enrichment | SMAD3 | 1.42 |
| 236 | Craniopharyngioma | Enrichment | CTNNB1 | 1.42 |
| 237 | Hereditary recurrent myoglobinuria | Enrichment | LPIN1 | 1.42 |
| 238 | Autosomal dominant robinow syndrome | Enrichment | DVL1 | 1.42 |
| 239 | Coronary artery anomaly | Enrichment | LPL | 1.42 |
| 240 | Sick sinus syndrome | Enrichment | LMNA | 1.42 |
| 241 | Cerebral malaria | Enrichment | TNF | 1.42 |
| 242 | Non-syndromic bicoronal craniosynostosis | Enrichment | TWIST1 | 1.42 |
| 243 | Genetic central precocious puberty in male | Enrichment | DLK1 | 1.42 |
| 244 | Transposition of the great arteries | Enrichment | GATA4 | 1.42 |
| 245 | Clear cell papillary renal cell carcinoma | Enrichment | HNF1A | 1.42 |
| 246 | Hypertrophic neuropathy of dejerine-sottas | Enrichment | EGR2 | 1.32 |
| 247 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.32 |
| 248 | Hyperlipidemia, familial combined, 3 | Enrichment | LPL | 1.32 |
| 249 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.32 |
| 250 | Neuronopathy, distal hereditary motor, autosomal dominant 5 | Enrichment | BSCL2 | 1.32 |
| 251 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1 | 1.32 |
| 252 | Rhabdomyosarcoma 2 | Enrichment | FOXO1 | 1.32 |
| 253 | Insulin-like growth factor i | Enrichment | IGF1 | 1.32 |
| 254 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1 | 1.32 |
| 255 | Congenital heart defects, multiple types, 4 | Enrichment | GATA4 | 1.32 |
| 256 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | LMNA | 1.32 |
| 257 | Histiocytoid hemangioma | Enrichment | LMNA | 1.32 |
| 258 | Vascular dementia | Enrichment | TNF | 1.32 |
| 259 | Inherited acute myeloid leukemia | Enrichment | CEBPA | 1.32 |
| 260 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | CEBPA | 1.32 |
| 261 | Systemic lupus erythematosus | Enrichment | SOCS1, TNF | 1.26 |
| 262 | Atrial septal defect 1 | Enrichment | BMP2 | 1.25 |
| 263 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | Enrichment | LMNA | 1.25 |
| 264 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.25 |
| 265 | Renal tubular dysgenesis | Enrichment | AGT | 1.25 |
| 266 | Anxiety | Enrichment | KLF7 | 1.25 |
| 267 | Anterior segment dysgenesis 5 | Enrichment | BMP4 | 1.25 |
| 268 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.25 |
| 269 | Autosomal recessive robinow syndrome | Enrichment | DVL1 | 1.25 |
| 270 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.25 |
| 271 | Clear cell renal cell carcinoma | Enrichment | HNF1A | 1.25 |
| 272 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.25 |
| 273 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.25 |
| 274 | Autosomal dominant secondary polycythemia | Enrichment | EPAS1 | 1.25 |
| 275 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | EPAS1 | 1.25 |
| 276 | Leukemia, acute myeloid | Enrichment | CEBPA, GATA2 | 1.25 |
| 277 | Charcot-marie-tooth disease | Enrichment | BSCL2, LMNA | 1.23 |
| 278 | Bethlem myopathy 1a | Enrichment | LMNA | 1.18 |
| 279 | Prader-willi syndrome | Enrichment | NDN | 1.18 |
| 280 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.18 |
| 281 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.18 |
| 282 | Gallbladder cancer | Enrichment | CTNNB1 | 1.18 |
| 283 | Ovarian cancer | Enrichment | CTNNB1, HNF1A, RB1 | 1.13 |
| 284 | Hemochromatosis, type 1 | Enrichment | BMP2 | 1.13 |
| 285 | Isolated growth hormone deficiency, type ia | Enrichment | GH1 | 1.13 |
| 286 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.13 |
| 287 | Congenital muscular dystrophy | Enrichment | LMNA | 1.13 |
| 288 | Myocarditis | Enrichment | LMNA | 1.13 |
| 289 | Isolated split hand-split foot malformation | Enrichment | WNT10B | 1.13 |
| 290 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.08 |
| 291 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | LMNA | 1.08 |
| 292 | Loeys-dietz syndrome | Enrichment | SMAD3 | 1.08 |
| 293 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.08 |
| 294 | Primary hyperaldosteronism | Enrichment | NR3C1 | 1.08 |
| 295 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.08 |
| 296 | Peters-plus syndrome | Enrichment | BMP4 | 1.03 |
| 297 | Stickler syndrome | Enrichment | BMP4 | 1.03 |
| 298 | Asthma | Enrichment | TNF | 0.99 |
| 299 | Myelodysplastic syndrome | Enrichment | GATA2 | 0.99 |
| 300 | Myeloma, multiple | Enrichment | NCOR2, RXRA | 0.99 |
| 301 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MEF2C, PPARGC1A | 0.97 |
| 302 | Cardiac conduction defect | Enrichment | LMNA | 0.96 |
| 303 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | LMNA | 0.96 |
| 304 | Digeorge syndrome | Enrichment | HNF1A | 0.96 |
| 305 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4 | 0.96 |
| 306 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | LMNA | 0.96 |
| 307 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | LMNA | 0.96 |
| 308 | Lip and oral cavity carcinoma | Enrichment | RB1 | 0.96 |
| 309 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 0.93 |
| 310 | Alzheimer's disease | Enrichment | TNF | 0.93 |
| 311 | Multiple sclerosis | Enrichment | NR1H3 | 0.90 |
| 312 | Osteoporosis | Enrichment | WNT1 | 0.90 |
| 313 | Medulloblastoma | Enrichment | CTNNB1 | 0.90 |
| 314 | Lung cancer susceptibility 3 | Enrichment | RB1 | 0.90 |
| 315 | Heart disease | Enrichment | GATA4 | 0.90 |
| 316 | Cleft lip/palate | Enrichment | BMP4 | 0.90 |
| 317 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | LMNA | 0.90 |
| 318 | 46,xy partial gonadal dysgenesis | Enrichment | GATA4 | 0.90 |
| 319 | Renal cell carcinoma, nonpapillary | Enrichment | HNF1A | 0.87 |
| 320 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | LMNA | 0.84 |
| 321 | Gliosarcoma | Enrichment | PPARG | 0.84 |
| 322 | Cardiomyopathy, dilated, 1e | Enrichment | LMNA | 0.82 |
| 323 | Polycystic liver disease | Enrichment | CTNNB1 | 0.82 |
| 324 | Giant cell glioblastoma | Enrichment | PPARG | 0.82 |
| 325 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 0.82 |
| 326 | Heart, malformation of | Enrichment | GATA4 | 0.79 |
| 327 | Charcot-marie-tooth disease type 4 | Enrichment | EGR2 | 0.79 |
| 328 | Neuromuscular disease | Enrichment | LMNA | 0.79 |
| 329 | Patent foramen ovale | Enrichment | GATA4 | 0.79 |
| 330 | Breast cancer | Enrichment | BSCL2, HNF1A | 0.79 |
| 331 | Arteriovenous malformations of the brain | Enrichment | IL6 | 0.77 |
| 332 | Behcet syndrome | Enrichment | FAS | 0.77 |
| 333 | Ehlers-danlos syndrome | Enrichment | SMAD3 | 0.77 |
| 334 | Hepatoblastoma | Enrichment | CTNNB1 | 0.73 |
| 335 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 0.72 |
| 336 | Tooth agenesis | Enrichment | WNT10B | 0.72 |
| 337 | Malaria | Enrichment | TNF | 0.70 |
| 338 | Colorectal cancer | Enrichment | CTNNB1, PPARG | 0.69 |
| 339 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | LMNA | 0.68 |
| 340 | Familial atrial fibrillation | Enrichment | GATA4 | 0.68 |
| 341 | Autoinflammatory disease | Enrichment | LPIN2 | 0.68 |
| 342 | Muscular dystrophy | Enrichment | LMNA | 0.68 |
| 343 | Tetralogy of fallot | Enrichment | GATA4 | 0.65 |
| 344 | Hydrops fetalis, nonimmune | Enrichment | FOXC2 | 0.65 |
| 345 | Brugada syndrome | Enrichment | LMNA | 0.65 |
| 346 | Hirschsprung disease 1 | Enrichment | SREBF1 | 0.61 |
| 347 | Prostate cancer | Enrichment | KLF6 | 0.61 |
| 348 | Differentiated thyroid carcinoma | Enrichment | PPARG | 0.61 |
| 349 | Long qt syndrome | Enrichment | LMNA | 0.58 |
| 350 | Non-immune hydrops fetalis | Enrichment | FOXC2 | 0.58 |
| 351 | Lung cancer | Enrichment | FAS | 0.57 |
| 352 | Connective tissue disease | Enrichment | SMAD3 | 0.57 |
| 353 | Autism spectrum disorder | Enrichment | MEF2C, NR2F1 | 0.55 |
| 354 | Left ventricular noncompaction | Enrichment | LMNA | 0.54 |
| 355 | Developmental and epileptic encephalopathy | Enrichment | BSCL2 | 0.53 |
| 356 | Hereditary spastic paraplegia | Enrichment | BSCL2 | 0.47 |
| 357 | Gastric cancer | Enrichment | KLF6 | 0.47 |
| 358 | Optic atrophy plus syndrome | Enrichment | NR2F1 | 0.46 |
| 359 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD3 | 0.46 |
| 360 | Inherited cancer-predisposing syndrome | Enrichment | CEBPA, RB1 | 0.44 |
| 361 | Body mass index quantitative trait locus 11 | Enrichment | PPARG | 0.41 |
| 362 | Familial isolated dilated cardiomyopathy | Enrichment | LMNA | 0.40 |
| 363 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | GATA4 | 0.38 |
| 364 | Primary ovarian insufficiency | Enrichment | PRLR | 0.36 |
| 365 | Dilated cardiomyopathy | Enrichment | LMNA | 0.27 |
| 366 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.19 |
| 367 | Nervous system disease | Enrichment | CTNNB1 | 0.19 |
| 368 | Microcephaly | Enrichment | CTNNB1 | 0.16 |
| 369 | Complex neurodevelopmental disorder | Enrichment | RORA | 0.15 |
| 370 | Retinitis pigmentosa | Enrichment | AHR | 0.06 |