| 1 | Congenital heart defects, multiple types, 4 | Enrichment | BMP7, GATA4, GATA6 | 5.87 |
| 2 | Aortic aneurysm, familial thoracic 1 | Enrichment | GATA4, NOTCH1, SMAD3 | 4.32 |
| 3 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1, SMAD2, SMAD3, SMAD4 | 4.10 |
| 4 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 4.09 |
| 5 | Juvenile polyposis syndrome | Enrichment | BMPR1A, SMAD4 | 4.09 |
| 6 | Chromosome 17q12 deletion syndrome | Enrichment | HNF1B, LHX1 | 4.09 |
| 7 | Desmoid tumor | Enrichment | APC, CTNNB1 | 4.09 |
| 8 | Macs syndrome | Enrichment | GDF3, OTX2, SOX2 | 3.83 |
| 9 | Craniopharyngioma | Enrichment | APC, CTNNB1 | 3.79 |
| 10 | Ovarian cancer | Enrichment | APC, BMPR1A, CTNNB1, EXT1, HNF1B | 3.74 |
| 11 | Ventricular septal defect 1 | Enrichment | BMP7, GATA4 | 3.57 |
| 12 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | BMPR1A, SMAD4 | 3.57 |
| 13 | Tetralogy of fallot | Enrichment | GATA4, GATA6, NOTCH1 | 3.48 |
| 14 | Gallbladder cancer | Enrichment | CTNNB1, SMAD4 | 3.25 |
| 15 | Inherited cancer-predisposing syndrome | Enrichment | APC, BMPR1A, CDC73, EZH2, SMAD4 | 3.20 |
| 16 | Combined pituitary hormone deficiency | Enrichment | FOXA2, OTX2 | 3.13 |
| 17 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3 | 3.02 |
| 18 | Nanophthalmos | Enrichment | OTX2, SOX2 | 2.84 |
| 19 | Septooptic dysplasia | Enrichment | OTX2, SOX2 | 2.76 |
| 20 | Medulloblastoma | Enrichment | APC, CTNNB1 | 2.63 |
| 21 | 46,xy partial gonadal dysgenesis | Enrichment | GATA4, OTX2 | 2.63 |
| 22 | Septopreoptic holoprosencephaly | Enrichment | FOXH1, NODAL | 2.57 |
| 23 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FOXH1, NODAL | 2.57 |
| 24 | Microform holoprosencephaly | Enrichment | FOXH1, NODAL | 2.51 |
| 25 | Lobar holoprosencephaly | Enrichment | FOXH1, NODAL | 2.51 |
| 26 | Alobar holoprosencephaly | Enrichment | FOXH1, NODAL | 2.46 |
| 27 | Heart, malformation of | Enrichment | GATA4, NODAL | 2.41 |
| 28 | Patent foramen ovale | Enrichment | GATA4, GATA6 | 2.41 |
| 29 | Semilobar holoprosencephaly | Enrichment | FOXH1, NODAL | 2.41 |
| 30 | Chiari malformation type i | Enrichment | DKK1 | 2.28 |
| 31 | Chondrosarcoma | Enrichment | EXT1 | 2.28 |
| 32 | Stapes ankylosis with broad thumbs and toes | Enrichment | NOG | 2.28 |
| 33 | Tarsal-carpal coalition syndrome | Enrichment | NOG | 2.28 |
| 34 | Parathyroid carcinoma | Enrichment | CDC73 | 2.28 |
| 35 | Tooth agenesis, selective, 3 | Enrichment | PAX9 | 2.28 |
| 36 | Polyposis syndrome, hereditary mixed, 2 | Enrichment | BMPR1A | 2.28 |
| 37 | Brachydactyly, type b2 | Enrichment | NOG | 2.28 |
| 38 | Hyperparathyroidism 2 with jaw tumors | Enrichment | CDC73 | 2.28 |
| 39 | Prostate cancer, hereditary, 11 | Enrichment | HNF1B | 2.28 |
| 40 | Symphalangism, proximal, 1a | Enrichment | NOG | 2.28 |
| 41 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.28 |
| 42 | Multiple synostoses syndrome 1 | Enrichment | NOG | 2.28 |
| 43 | Vesicoureteral reflux 3 | Enrichment | SOX17 | 2.28 |
| 44 | Microphthalmia, isolated 7 | Enrichment | GDF3 | 2.28 |
| 45 | Atrioventricular septal defect 4 | Enrichment | GATA4 | 2.28 |
| 46 | Atrioventricular septal defect 5 | Enrichment | GATA6 | 2.28 |
| 47 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.28 |
| 48 | Heterotaxy, visceral, 5, autosomal | Enrichment | NODAL | 2.28 |
| 49 | Developmental delay with variable intellectual disability and dysmorphic facies | Enrichment | JARID2 | 2.28 |
| 50 | Microphthalmia, syndromic 5 | Enrichment | OTX2 | 2.28 |
| 51 | Athabaskan brainstem dysgenesis syndrome | Enrichment | HOXA1 | 2.28 |
| 52 | Cerebral amyloid angiopathy, app-related | Enrichment | APP | 2.28 |
| 53 | Atrial septal defect 2 | Enrichment | GATA4 | 2.28 |
| 54 | Immunodeficiency 31a | Enrichment | STAT1 | 2.28 |
| 55 | Klippel-feil syndrome 3, autosomal dominant | Enrichment | GDF3 | 2.28 |
| 56 | Pituitary hormone deficiency, combined, 6 | Enrichment | OTX2 | 2.28 |
| 57 | Testicular anomalies with or without congenital heart disease | Enrichment | GATA4 | 2.28 |
| 58 | Brachydactyly, type e2 | Enrichment | PTHLH | 2.28 |
| 59 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.28 |
| 60 | Immunodeficiency 31b | Enrichment | STAT1 | 2.28 |
| 61 | Cdc73-related disorders | Enrichment | CDC73 | 2.28 |
| 62 | Atrial septal defect 9 | Enrichment | GATA6 | 2.28 |
| 63 | Hereditary multiple osteochondromas | Enrichment | EXT1 | 2.28 |
| 64 | 8p23.1 microdeletion syndrome | Enrichment | GATA4 | 2.28 |
| 65 | Exostosis | Enrichment | EXT1 | 2.28 |
| 66 | Immunodeficiency 88 | Enrichment | TBX21 | 2.28 |
| 67 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.28 |
| 68 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.28 |
| 69 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.28 |
| 70 | Pulmonary hypertension, primary, 7 | Enrichment | SOX17 | 2.28 |
| 71 | Non-acquired combined pituitary hormone deficiency | Enrichment | FOXA2 | 2.28 |
| 72 | Familial adenomatous polyposis | Enrichment | APC | 2.28 |
| 73 | Partial atrioventricular septal defect with ventricular hypoplasia | Enrichment | GATA4 | 2.28 |
| 74 | Hereditary multiple exostoses | Enrichment | EXT1 | 2.28 |
| 75 | Bosley-salih-alorainy syndrome | Enrichment | HOXA1 | 2.28 |
| 76 | Gardner syndrome | Enrichment | APC | 2.28 |
| 77 | Medullary sponge kidney | Enrichment | HNF1B | 2.28 |
| 78 | 5q22 microdeletion syndrome | Enrichment | APC | 2.28 |
| 79 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.28 |
| 80 | Renal dysplasia, bilateral | Enrichment | HNF1B | 2.28 |
| 81 | Unilateral multicystic dysplastic kidney | Enrichment | HNF1B | 2.28 |
| 82 | Renal dysplasia, unilateral | Enrichment | HNF1B | 2.28 |
| 83 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | Enrichment | EOMES | 2.28 |
| 84 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.28 |
| 85 | Hepatoblastoma | Enrichment | APC, CTNNB1 | 2.27 |
| 86 | Hepatocellular carcinoma | Enrichment | APC, CTNNB1 | 2.23 |
| 87 | Microphthalmia | Enrichment | OTX2, SOX2 | 2.23 |
| 88 | Familial atrial fibrillation | Enrichment | GATA4, GATA6 | 2.16 |
| 89 | Tubulointerstitial kidney disease, autosomal dominant 1 | Enrichment | HNF1B | 1.98 |
| 90 | Cerebral amyloid angiopathy, cst3-related | Enrichment | APP | 1.98 |
| 91 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 1.98 |
| 92 | Exostoses, multiple, type i | Enrichment | EXT1 | 1.98 |
| 93 | Renal cysts and diabetes syndrome | Enrichment | HNF1B | 1.98 |
| 94 | Congenital anomalies of kidney and urinary tract 2 | Enrichment | HNF1B | 1.98 |
| 95 | Myhre syndrome | Enrichment | SMAD4 | 1.98 |
| 96 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.98 |
| 97 | Galactosemia ii | Enrichment | NR3C1 | 1.98 |
| 98 | Agnathia-otocephaly complex | Enrichment | OTX2 | 1.98 |
| 99 | Bladder exstrophy and epispadias complex | Enrichment | WNT3 | 1.98 |
| 100 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.98 |
| 101 | Tetraamelia syndrome 1 | Enrichment | WNT3 | 1.98 |
| 102 | Hyperparathyroidism 1 | Enrichment | CDC73 | 1.98 |
| 103 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 1.98 |
| 104 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 1.98 |
| 105 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.98 |
| 106 | Immunodeficiency 31c | Enrichment | STAT1 | 1.98 |
| 107 | Neutropenia, severe congenital, 8, autosomal dominant | Enrichment | GATA6 | 1.98 |
| 108 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.98 |
| 109 | Hyperuricemic nephropathy, familial juvenile, 3 | Enrichment | HNF1B | 1.98 |
| 110 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.98 |
| 111 | Split hand-foot malformation | Enrichment | LEF1 | 1.98 |
| 112 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.98 |
| 113 | 46,xy sex reversal 3 | Enrichment | GATA4 | 1.98 |
| 114 | Microphthalmia/coloboma 6 | Enrichment | GDF3 | 1.98 |
| 115 | Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction | Enrichment | NKX2-1 | 1.98 |
| 116 | Periampullary adenoma | Enrichment | APC | 1.98 |
| 117 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 1.98 |
| 118 | Proximal symphalangism | Enrichment | NOG | 1.98 |
| 119 | 17q24.2 microdeletion syndrome | Enrichment | BPTF | 1.98 |
| 120 | Hereditary mixed polyposis syndrome | Enrichment | BMPR1A | 1.98 |
| 121 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.98 |
| 122 | Teratoma | Enrichment | CTNNB1 | 1.98 |
| 123 | Bladder exstrophy-epispadias-cloacal exstrophy complex | Enrichment | WNT3 | 1.98 |
| 124 | Juvenile polyposis of infancy | Enrichment | BMPR1A | 1.98 |
| 125 | Nkx2-1-related disorders | Enrichment | NKX2-1 | 1.98 |
| 126 | Colorectal cancer | Enrichment | APC, CTNNB1, SMAD4 | 1.97 |
| 127 | Connective tissue disease | Enrichment | NOTCH1, SMAD3 | 1.92 |
| 128 | Brachydactyly, type e1 | Enrichment | PTHLH | 1.81 |
| 129 | Asthma, nasal polyps, and aspirin intolerance | Enrichment | TBX21 | 1.81 |
| 130 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | HNF1B | 1.81 |
| 131 | Weaver syndrome | Enrichment | EZH2 | 1.81 |
| 132 | Heart defects, congenital, and other congenital anomalies | Enrichment | GATA6 | 1.81 |
| 133 | Osteoporosis, juvenile | Enrichment | DKK1 | 1.81 |
| 134 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.81 |
| 135 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.81 |
| 136 | Anus, imperforate | Enrichment | CTNNB1 | 1.81 |
| 137 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.81 |
| 138 | Loeys-dietz syndrome 1 | Enrichment | SMAD2 | 1.81 |
| 139 | Chromophobe renal cell carcinoma | Enrichment | HNF1B | 1.81 |
| 140 | Familial vesicoureteral reflux | Enrichment | SOX17 | 1.81 |
| 141 | Parathyroid adenoma | Enrichment | CDC73 | 1.81 |
| 142 | Butterfly-shaped pigment dystrophy | Enrichment | OTX2 | 1.81 |
| 143 | Tetraamelia syndrome | Enrichment | WNT3 | 1.81 |
| 144 | Familial isolated hyperparathyroidism | Enrichment | CDC73 | 1.81 |
| 145 | Colon adenocarcinoma | Enrichment | APC | 1.81 |
| 146 | Keratoacanthoma | Enrichment | NOTCH1 | 1.81 |
| 147 | Isolated klippel-feil syndrome | Enrichment | GDF3 | 1.81 |
| 148 | Apc-associated polyposis conditions | Enrichment | APC | 1.81 |
| 149 | Kaposi sarcoma | Enrichment | BPTF | 1.68 |
| 150 | Trichorhinophalangeal syndrome, type ii | Enrichment | EXT1 | 1.68 |
| 151 | Chorea, benign hereditary | Enrichment | NKX2-1 | 1.68 |
| 152 | Microphthalmia, syndromic 3 | Enrichment | SOX2 | 1.68 |
| 153 | Thyroid cancer, nonmedullary, 1 | Enrichment | NKX2-1 | 1.68 |
| 154 | Pilomatrixoma | Enrichment | CTNNB1 | 1.68 |
| 155 | Alazami syndrome | Enrichment | CTNNB1 | 1.68 |
| 156 | Multiple synostoses syndrome | Enrichment | NOG | 1.68 |
| 157 | Hereditary ataxia | Enrichment | NKX2-1 | 1.68 |
| 158 | Aortic aneurysm | Enrichment | SMAD3 | 1.68 |
| 159 | Transposition of the great arteries | Enrichment | GATA4 | 1.68 |
| 160 | Middle aortic syndrome | Enrichment | GATA6 | 1.68 |
| 161 | Gastric cancer | Enrichment | APC, SMAD4 | 1.67 |
| 162 | Hereditary breast carcinoma | Enrichment | APC, CDC73 | 1.65 |
| 163 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.59 |
| 164 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.59 |
| 165 | Persistent truncus arteriosus | Enrichment | GATA6 | 1.59 |
| 166 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.51 |
| 167 | Conotruncal heart malformations | Enrichment | GATA6 | 1.51 |
| 168 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.51 |
| 169 | Anxiety | Enrichment | OTX2 | 1.51 |
| 170 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.51 |
| 171 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.51 |
| 172 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.51 |
| 173 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.51 |
| 174 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | GATA4, LEO1 | 1.46 |
| 175 | Multiple endocrine neoplasia, type i | Enrichment | CDC73 | 1.44 |
| 176 | Hypothyroidism, congenital, nongoitrous, 2 | Enrichment | NKX2-1 | 1.44 |
| 177 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.44 |
| 178 | Alzheimer's disease 1 | Enrichment | APP | 1.44 |
| 179 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.44 |
| 180 | Early-onset autosomal dominant alzheimer disease | Enrichment | APP | 1.44 |
| 181 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.39 |
| 182 | Choreatic disease | Enrichment | NKX2-1 | 1.39 |
| 183 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.39 |
| 184 | Tooth agenesis, selective, 1 | Enrichment | PAX9 | 1.34 |
| 185 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | BPTF | 1.34 |
| 186 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.34 |
| 187 | Primary hyperaldosteronism | Enrichment | NR3C1 | 1.34 |
| 188 | Colonic benign neoplasm | Enrichment | APC | 1.34 |
| 189 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.34 |
| 190 | Heritable pulmonary arterial hypertension | Enrichment | SOX17 | 1.25 |
| 191 | Familial colorectal cancer type x | Enrichment | BMPR1A | 1.25 |
| 192 | Breast cancer | Enrichment | APC, CDC73 | 1.23 |
| 193 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.18 |
| 194 | Diaphragmatic hernia, congenital | Enrichment | GATA6 | 1.18 |
| 195 | Pulmonary hypertension, primary, 1 | Enrichment | SOX17 | 1.18 |
| 196 | Alzheimer's disease | Enrichment | APP | 1.18 |
| 197 | Stereotypic movement disorder | Enrichment | JARID2 | 1.18 |
| 198 | Heart disease | Enrichment | GATA4 | 1.15 |
| 199 | Renal cell carcinoma, nonpapillary | Enrichment | HNF1B | 1.12 |
| 200 | Wilms tumor 1 | Enrichment | CTR9 | 1.12 |
| 201 | Wolff-parkinson-white syndrome | Enrichment | NODAL | 1.09 |
| 202 | Alzheimer disease, familial, 1 | Enrichment | APP | 1.07 |
| 203 | Polycystic liver disease | Enrichment | CTNNB1 | 1.07 |
| 204 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.07 |
| 205 | Ehlers-danlos syndrome | Enrichment | SMAD3 | 1.02 |
| 206 | Maturity-onset diabetes of the young | Enrichment | HNF1B | 1.00 |
| 207 | Visceral heterotaxy | Enrichment | NODAL | 0.96 |
| 208 | Tooth agenesis | Enrichment | PAX9 | 0.96 |
| 209 | Pancreatic cancer | Enrichment | SMAD4 | 0.91 |
| 210 | Complex neurodevelopmental disorder | Enrichment | CTR9, JARID2 | 0.86 |
| 211 | Bladder cancer | Enrichment | CTNNB1 | 0.85 |
| 212 | Prostate cancer | Enrichment | HNF1B | 0.85 |
| 213 | Differentiated thyroid carcinoma | Enrichment | NKX2-1 | 0.85 |
| 214 | Visceral heterotaxy 5 | Enrichment | NODAL | 0.82 |
| 215 | Cystic fibrosis | Enrichment | TGFB1 | 0.81 |
| 216 | Cakut | Enrichment | HNF1B | 0.79 |
| 217 | Type 2 diabetes mellitus | Enrichment | HNF1B | 0.70 |
| 218 | Thrombocytopenia | Enrichment | SMAD4 | 0.65 |
| 219 | Autosomal dominant non-syndromic intellectual disability | Enrichment | JARID2 | 0.64 |
| 220 | Myeloma, multiple | Enrichment | NKX2-1 | 0.59 |
| 221 | Autism | Enrichment | JARID2 | 0.50 |
| 222 | Dilated cardiomyopathy | Enrichment | GATA6 | 0.46 |
| 223 | Leber plus disease | Enrichment | OTX2 | 0.40 |
| 224 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.37 |
| 225 | Nervous system disease | Enrichment | CTNNB1 | 0.37 |
| 226 | Microcephaly | Enrichment | CTNNB1 | 0.32 |