| 1 | Witteveen-kolk syndrome | Enrichment | SIN3A, SIN3B | 4.53 |
| 2 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SKI, SMAD2, SMAD3, SMAD4 | 4.03 |
| 3 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN2B | 3.22 |
| 4 | Breast cancer | Enrichment | AKT1, CDKN2B, ESR1, JUN | 3.13 |
| 5 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3 | 2.99 |
| 6 | Septopreoptic holoprosencephaly | Enrichment | FOXH1, TGIF1 | 2.53 |
| 7 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FOXH1, TGIF1 | 2.53 |
| 8 | Microform holoprosencephaly | Enrichment | FOXH1, TGIF1 | 2.47 |
| 9 | Lobar holoprosencephaly | Enrichment | FOXH1, TGIF1 | 2.47 |
| 10 | Alobar holoprosencephaly | Enrichment | FOXH1, TGIF1 | 2.42 |
| 11 | Semilobar holoprosencephaly | Enrichment | FOXH1, TGIF1 | 2.37 |
| 12 | Ehlers-danlos syndrome | Enrichment | COL1A2, SMAD3 | 2.33 |
| 13 | Proteus syndrome | Enrichment | AKT1 | 2.26 |
| 14 | Atrial septal defect 7 with or without atrioventricular conduction defects | Enrichment | NKX2-5 | 2.26 |
| 15 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.26 |
| 16 | Prostate cancer, hereditary, x-linked 3 | Enrichment | AR | 2.26 |
| 17 | Hypothyroidism, congenital, nongoitrous, 5 | Enrichment | NKX2-5 | 2.26 |
| 18 | Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities | Enrichment | GSC | 2.26 |
| 19 | Androgen insensitivity, partial | Enrichment | AR | 2.26 |
| 20 | Spermatogenic failure, x-linked, 9 | Enrichment | RBBP7 | 2.26 |
| 21 | Holoprosencephaly 4 | Enrichment | TGIF1 | 2.26 |
| 22 | Immunodeficiency 39 viral infections | Enrichment | IRF7 | 2.26 |
| 23 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.26 |
| 24 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | Enrichment | HNF4A | 2.26 |
| 25 | Shprintzen-goldberg craniosynostosis syndrome | Enrichment | SKI | 2.26 |
| 26 | Agammaglobulinemia 8b, autosomal recessive | Enrichment | TCF3 | 2.26 |
| 27 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.26 |
| 28 | Renal cell carcinoma, xp11-associated | Enrichment | TFE3 | 2.26 |
| 29 | Intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies | Enrichment | TFE3 | 2.26 |
| 30 | Graft-versus-host disease | Enrichment | IL10 | 2.26 |
| 31 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.26 |
| 32 | Immunodeficiency 39 | Enrichment | IRF7 | 2.26 |
| 33 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 2.26 |
| 34 | Agammaglobulinemia 8a, autosomal dominant | Enrichment | TCF3 | 2.26 |
| 35 | Ventricular septal defect 3 | Enrichment | NKX2-5 | 2.26 |
| 36 | Polydactyly-macrocephaly syndrome | Enrichment | MAX | 2.26 |
| 37 | Cowden syndrome 6 | Enrichment | AKT1 | 2.26 |
| 38 | Congenital myopathy 17 | Enrichment | MYOD1 | 2.26 |
| 39 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.26 |
| 40 | Colorectal cancer 3 | Enrichment | SMAD7 | 2.26 |
| 41 | Hypoplastic left heart syndrome 2 | Enrichment | NKX2-5 | 2.26 |
| 42 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.26 |
| 43 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.26 |
| 44 | Rickets | Enrichment | VDR | 2.26 |
| 45 | Chromosome 15q24 deletion syndrome | Enrichment | SIN3A | 2.26 |
| 46 | Hyperinsulinism due to hnf4a deficiency | Enrichment | HNF4A | 2.26 |
| 47 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 2.26 |
| 48 | Aortic arch interruption | Enrichment | NKX2-5 | 2.26 |
| 49 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 2.26 |
| 50 | Foxg1 syndrome due to intragenic alteration | Enrichment | FOXG1 | 2.26 |
| 51 | Complete androgen insensitivity syndrome | Enrichment | AR | 2.26 |
| 52 | Atrial heart septal defect 7 | Enrichment | NKX2-5 | 2.26 |
| 53 | Foxg1 syndrome due to 14q12 microdeletion | Enrichment | FOXG1 | 2.26 |
| 54 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.26 |
| 55 | Mef2c-related disorder | Enrichment | MEF2C | 2.26 |
| 56 | Burkitt lymphoma | Enrichment | MYC | 1.96 |
| 57 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome | Enrichment | GATA3 | 1.96 |
| 58 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 1.96 |
| 59 | Maturity-onset diabetes of the young, type 1 | Enrichment | HNF4A | 1.96 |
| 60 | Myhre syndrome | Enrichment | SMAD4 | 1.96 |
| 61 | Storage pool platelet disease | Enrichment | RUNX1 | 1.96 |
| 62 | Bruck syndrome 1 | Enrichment | COL1A2 | 1.96 |
| 63 | Galactosemia ii | Enrichment | NR3C1 | 1.96 |
| 64 | Spinal and bulbar muscular atrophy, x-linked 1 | Enrichment | AR | 1.96 |
| 65 | Alveolar soft part sarcoma | Enrichment | TFE3 | 1.96 |
| 66 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.96 |
| 67 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 1.96 |
| 68 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.96 |
| 69 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | Enrichment | CTBP1 | 1.96 |
| 70 | 46,xy sex reversal 1 | Enrichment | AR | 1.96 |
| 71 | Androgen insensitivity syndrome | Enrichment | AR | 1.96 |
| 72 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A2 | 1.96 |
| 73 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 1.96 |
| 74 | Hypospadias 1, x-linked | Enrichment | AR | 1.96 |
| 75 | Cleidocranial dysplasia 2 | Enrichment | CBFB | 1.96 |
| 76 | Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures | Enrichment | SNIP1 | 1.96 |
| 77 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | Enrichment | GATA3 | 1.96 |
| 78 | Hypoparathyroidism-deafness-renal disease syndrome | Enrichment | GATA3 | 1.96 |
| 79 | Familial isolated congenital asplenia | Enrichment | NKX2-5 | 1.96 |
| 80 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A2 | 1.96 |
| 81 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | Enrichment | TCF3 | 1.96 |
| 82 | Autosomal dominant nonsyndromic deafness | Enrichment | GATA3 | 1.96 |
| 83 | Deletion 5q35 | Enrichment | NKX2-5 | 1.96 |
| 84 | Posterior hypospadias | Enrichment | AR | 1.96 |
| 85 | Hyperinsulinism | Enrichment | HNF4A | 1.96 |
| 86 | Hyperinsulinism due to hnf1a deficiency | Enrichment | HNF4A | 1.96 |
| 87 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 1.96 |
| 88 | B-lymphoblastic leukemia/lymphoma with t(17;19) | Enrichment | TCF3 | 1.96 |
| 89 | Tafro syndrome | Enrichment | RUNX1 | 1.96 |
| 90 | Colorectal cancer | Enrichment | AKT1, EP300, SMAD4 | 1.92 |
| 91 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 1.79 |
| 92 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.79 |
| 93 | Platelet disorder, familial, with associated myeloid malignancy | Enrichment | RUNX1 | 1.79 |
| 94 | Estrogen resistance | Enrichment | ESR1 | 1.79 |
| 95 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.79 |
| 96 | Loeys-dietz syndrome 1 | Enrichment | SMAD2 | 1.79 |
| 97 | Cleidocranial dysplasia | Enrichment | RUNX2 | 1.79 |
| 98 | Migraine without aura | Enrichment | ESR1 | 1.79 |
| 99 | End stage renal disease | Enrichment | GATA3 | 1.79 |
| 100 | High bone mass osteogenesis imperfecta | Enrichment | COL1A2 | 1.79 |
| 101 | Melanoma of soft tissue | Enrichment | CREB1 | 1.79 |
| 102 | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1 | Enrichment | RUNX1 | 1.79 |
| 103 | Renal cell carcinoma | Enrichment | TFE3 | 1.79 |
| 104 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A2 | 1.66 |
| 105 | Maturity-onset diabetes of the young, type 3 | Enrichment | HNF4A | 1.66 |
| 106 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.66 |
| 107 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 1.66 |
| 108 | Malignant epithelioid hemangioendothelioma | Enrichment | TFE3 | 1.66 |
| 109 | Aortic aneurysm | Enrichment | SMAD3 | 1.66 |
| 110 | Blood platelet disease | Enrichment | RUNX1 | 1.66 |
| 111 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | CBFB | 1.66 |
| 112 | Hereditary progressive cardiac conduction defect | Enrichment | NKX2-5 | 1.66 |
| 113 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A2 | 1.66 |
| 114 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1 | 1.66 |
| 115 | Hereditary breast carcinoma | Enrichment | AKT1, ESR1 | 1.62 |
| 116 | Vitamin d-dependent rickets, type 2a | Enrichment | VDR | 1.57 |
| 117 | Rhabdomyosarcoma 2 | Enrichment | FOXO1 | 1.57 |
| 118 | Goldberg-shprintzen syndrome | Enrichment | SKI | 1.57 |
| 119 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.57 |
| 120 | Histiocytoid hemangioma | Enrichment | FOS | 1.57 |
| 121 | Aggressive systemic mastocytosis | Enrichment | RUNX1 | 1.57 |
| 122 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | RUNX1 | 1.57 |
| 123 | Persistent truncus arteriosus | Enrichment | NKX2-5 | 1.57 |
| 124 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.57 |
| 125 | Thrombocytopenia | Enrichment | RUNX1, SMAD4 | 1.55 |
| 126 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A2 | 1.49 |
| 127 | Osteogenesis imperfecta, type i | Enrichment | COL1A2 | 1.49 |
| 128 | Myopathy, centronuclear, 1 | Enrichment | MYOD1 | 1.49 |
| 129 | Wolf-hirschhorn syndrome | Enrichment | CTBP1 | 1.49 |
| 130 | Conotruncal heart malformations | Enrichment | NKX2-5 | 1.49 |
| 131 | Rubinstein-taybi syndrome 1 | Enrichment | EP300 | 1.49 |
| 132 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | EP300 | 1.49 |
| 133 | Pancytopenia | Enrichment | RUNX1 | 1.49 |
| 134 | Double outlet right ventricle | Enrichment | NKX2-5 | 1.49 |
| 135 | Il10-related early-onset inflammatory bowel disease | Enrichment | IL10 | 1.49 |
| 136 | Breast adenocarcinoma | Enrichment | AKT1 | 1.49 |
| 137 | Classic ehlers-danlos syndrome | Enrichment | COL1A2 | 1.49 |
| 138 | Inherited cancer-predisposing syndrome | Enrichment | MAX, RUNX1, SMAD4 | 1.45 |
| 139 | Osteogenesis imperfecta, type ii | Enrichment | COL1A2 | 1.43 |
| 140 | Hypothyroidism, congenital, nongoitrous, 2 | Enrichment | NKX2-5 | 1.43 |
| 141 | Rett syndrome | Enrichment | FOXG1 | 1.43 |
| 142 | Leukemia, chronic myeloid | Enrichment | RUNX1 | 1.43 |
| 143 | Renal cell carcinoma with mit translocations | Enrichment | TFE3 | 1.43 |
| 144 | Gallbladder cancer | Enrichment | SMAD4 | 1.43 |
| 145 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.43 |
| 146 | Rett syndrome, congenital variant | Enrichment | FOXG1 | 1.37 |
| 147 | Hypoplastic left heart syndrome | Enrichment | NKX2-5 | 1.37 |
| 148 | Difference of sex development | Enrichment | AR | 1.37 |
| 149 | Rheumatoid arthritis | Enrichment | IL10 | 1.32 |
| 150 | Charge syndrome | Enrichment | EP300 | 1.32 |
| 151 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | RUNX1 | 1.32 |
| 152 | Primary hyperaldosteronism | Enrichment | NR3C1 | 1.32 |
| 153 | Cowden syndrome | Enrichment | AKT1 | 1.32 |
| 154 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.32 |
| 155 | Optic nerve disease | Enrichment | FOXG1 | 1.27 |
| 156 | Autosomal non-syndromic agammaglobulinemia | Enrichment | TCF3 | 1.27 |
| 157 | Primary bone dysplasia | Enrichment | COL1A2 | 1.27 |
| 158 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.23 |
| 159 | Atrial heart septal defect | Enrichment | NKX2-5 | 1.23 |
| 160 | 46,xy complete gonadal dysgenesis | Enrichment | AR | 1.23 |
| 161 | Osteochondrodysplasia | Enrichment | COL1A2 | 1.23 |
| 162 | Interatrial communication | Enrichment | NKX2-5 | 1.23 |
| 163 | Meningioma | Enrichment | AKT1 | 1.20 |
| 164 | Aortic valve disease 1 | Enrichment | NKX2-5 | 1.16 |
| 165 | Osteogenesis imperfecta, type iv | Enrichment | COL1A2 | 1.16 |
| 166 | Pulmonary disease, chronic obstructive | Enrichment | VDR | 1.16 |
| 167 | Chromosome 1p36 deletion syndrome | Enrichment | SKI | 1.16 |
| 168 | Stereotypic movement disorder | Enrichment | FOXG1 | 1.16 |
| 169 | Osteoporosis | Enrichment | COL1A2 | 1.13 |
| 170 | Pheochromocytoma | Enrichment | MAX | 1.13 |
| 171 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.13 |
| 172 | Heart disease | Enrichment | NKX2-5 | 1.13 |
| 173 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.10 |
| 174 | Osteogenesis imperfecta, type iii | Enrichment | COL1A2 | 1.10 |
| 175 | Rare genetic intellectual disability | Enrichment | EP300 | 1.10 |
| 176 | Isolated congenital microcephaly | Enrichment | FOXG1 | 1.08 |
| 177 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2B | 1.05 |
| 178 | Polycystic liver disease | Enrichment | HNF4A | 1.05 |
| 179 | Autosomal dominant polycystic liver disease | Enrichment | HNF4A | 1.05 |
| 180 | Human immunodeficiency virus type 1 | Enrichment | IL10 | 1.03 |
| 181 | Patent foramen ovale | Enrichment | NKX2-5 | 1.03 |
| 182 | Behcet syndrome | Enrichment | IL10 | 1.01 |
| 183 | Diffuse large b-cell lymphoma | Enrichment | FOXO1 | 1.01 |
| 184 | Maturity-onset diabetes of the young | Enrichment | HNF4A | 0.98 |
| 185 | Ovarian cancer | Enrichment | AKT1, AR | 0.98 |
| 186 | Lissencephaly | Enrichment | FOXG1 | 0.96 |
| 187 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | MAX | 0.96 |
| 188 | Hepatocellular carcinoma | Enrichment | VDR | 0.95 |
| 189 | Myocardial infarction | Enrichment | ESR1 | 0.95 |
| 190 | Multisystem inflammatory syndrome in children | Enrichment | IFNB1 | 0.95 |
| 191 | Brittle bone disorder | Enrichment | COL1A2 | 0.93 |
| 192 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 0.93 |
| 193 | Familial atrial fibrillation | Enrichment | NKX2-5 | 0.91 |
| 194 | Pancreatic cancer | Enrichment | SMAD4 | 0.89 |
| 195 | Tetralogy of fallot | Enrichment | NKX2-5 | 0.88 |
| 196 | Strabismus | Enrichment | FOXG1 | 0.86 |
| 197 | Bladder cancer | Enrichment | CDKN1A | 0.83 |
| 198 | Prostate cancer | Enrichment | AR | 0.83 |
| 199 | Connective tissue disease | Enrichment | SMAD3 | 0.79 |
| 200 | Male infertility | Enrichment | AR | 0.77 |
| 201 | Cakut | Enrichment | GATA3 | 0.77 |
| 202 | Left ventricular noncompaction | Enrichment | NKX2-5 | 0.76 |
| 203 | Fetal akinesia deformation sequence 1 | Enrichment | MYOD1 | 0.74 |
| 204 | Systemic lupus erythematosus | Enrichment | IL10 | 0.72 |
| 205 | Leukemia, acute myeloid | Enrichment | RUNX1 | 0.71 |
| 206 | Benign epilepsy with centrotemporal spikes | Enrichment | SNIP1 | 0.70 |
| 207 | Type 2 diabetes mellitus | Enrichment | HNF4A | 0.69 |
| 208 | Distal arthrogryposis | Enrichment | MYOD1 | 0.69 |
| 209 | Centralopathic epilepsy | Enrichment | SNIP1 | 0.68 |
| 210 | Gastric cancer | Enrichment | SMAD4 | 0.68 |
| 211 | Nephrotic syndrome | Enrichment | RUNX2 | 0.68 |
| 212 | Myeloma, multiple | Enrichment | TCF3 | 0.58 |
| 213 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | AR | 0.58 |
| 214 | Undetermined early-onset epileptic encephalopathy | Enrichment | FOXG1 | 0.58 |
| 215 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MEF2C | 0.56 |
| 216 | Dilated cardiomyopathy | Enrichment | NKX2-5 | 0.45 |
| 217 | Congenital nervous system abnormality | Enrichment | FOXG1 | 0.36 |
| 218 | Nervous system disease | Enrichment | FOXG1 | 0.36 |
| 219 | Autism spectrum disorder | Enrichment | MEF2C | 0.35 |
| 220 | Microcephaly | Enrichment | EP300 | 0.31 |