| 1 | Microform holoprosencephaly | Enrichment | DLL1, FGF8, FGFR1, FOXH1, NODAL, ZIC2 | 7.97 |
| 2 | Lobar holoprosencephaly | Enrichment | DLL1, FGF8, FGFR1, FOXH1, NODAL, ZIC2 | 7.97 |
| 3 | Alobar holoprosencephaly | Enrichment | DLL1, FGF8, FOXH1, NODAL, PLCH1, ZIC2 | 7.79 |
| 4 | Semilobar holoprosencephaly | Enrichment | DLL1, FGF8, FGFR1, FOXH1, NODAL, ZIC2 | 7.61 |
| 5 | Peters-plus syndrome | Enrichment | BMP4, ELP4, FOXC1, PAX6, PITX2 | 7.47 |
| 6 | Microphthalmia/coloboma 12 | Enrichment | ELP4, FZD5, PAX6, RARB, YAP1 | 6.78 |
| 7 | Coloboma of macula | Enrichment | ELP4, FZD5, PAX6, RARB, YAP1 | 6.42 |
| 8 | Septopreoptic holoprosencephaly | Enrichment | DLL1, FGF8, FOXH1, NODAL, ZIC2 | 6.42 |
| 9 | Midline interhemispheric variant of holoprosencephaly | Enrichment | DLL1, FGF8, FOXH1, NODAL, ZIC2 | 6.42 |
| 10 | Holoprosencephaly | Enrichment | FGF8, FGFR1, ZIC2 | 4.91 |
| 11 | Coloboma of optic nerve | Enrichment | ELP4, FZD5, PAX6 | 4.61 |
| 12 | Holoprosencephaly 1 | Enrichment | FGF8, FGFR1, ZIC2 | 4.61 |
| 13 | Anterior segment dysgenesis 5 | Enrichment | BMP4, ELP4, PAX6 | 4.61 |
| 14 | Visceral heterotaxy | Enrichment | ACVR2B, LEFTY2, NODAL, ZIC3 | 4.08 |
| 15 | Keratitis, hereditary | Enrichment | ELP4, PAX6 | 3.93 |
| 16 | Exostoses, multiple, type i | Enrichment | EXT1, EXT2 | 3.93 |
| 17 | Foveal hypoplasia 1 | Enrichment | ELP4, PAX6 | 3.93 |
| 18 | Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities | Enrichment | FOXC1, PITX2 | 3.93 |
| 19 | Optic nerve hypoplasia, bilateral | Enrichment | ELP4, PAX6 | 3.93 |
| 20 | Fibrodysplasia ossificans progressiva | Enrichment | ACVR1, BMPR2 | 3.93 |
| 21 | Axenfeld-rieger syndrome | Enrichment | FOXC1, PITX2 | 3.93 |
| 22 | Juvenile polyposis syndrome | Enrichment | BMPR1A, SMAD4 | 3.46 |
| 23 | Osteoporosis, juvenile | Enrichment | DKK1, WNT3A | 3.46 |
| 24 | Anterior segment dysgenesis | Enrichment | FOXC1, PAX6, PITX2 | 3.29 |
| 25 | Aniridia 1 | Enrichment | ELP4, PAX6 | 3.16 |
| 26 | Eyelid coloboma | Enrichment | FZD5, PAX6 | 3.16 |
| 27 | Lens coloboma | Enrichment | FZD5, PAX6 | 3.16 |
| 28 | Congenital heart defects, multiple types, 4 | Enrichment | BMP7, GATA6 | 2.94 |
| 29 | Aniridia | Enrichment | FOXC1, PAX6 | 2.94 |
| 30 | Coloboma of choroid and retina | Enrichment | FZD5, PAX6 | 2.94 |
| 31 | Persistent truncus arteriosus | Enrichment | GATA6, TBX1 | 2.94 |
| 32 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | BMPR1A, SMAD4 | 2.94 |
| 33 | Macs syndrome | Enrichment | GDF3, PAX6, SOX2 | 2.91 |
| 34 | Microphthalmia | Enrichment | PAX6, RARB, SOX2 | 2.78 |
| 35 | Conotruncal heart malformations | Enrichment | GATA6, TBX1 | 2.77 |
| 36 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | ELP4, PAX6 | 2.77 |
| 37 | Spondylocostal dysostosis, autosomal recessive | Enrichment | HES7, TBX6 | 2.77 |
| 38 | Spastic paraplegia 4, autosomal dominant | Enrichment | PHF6, TCF4 | 2.50 |
| 39 | Myeloma, multiple | Enrichment | BCORL1, CCND1, LATS1, YAP1 | 2.50 |
| 40 | Tooth agenesis, selective, 1 | Enrichment | AXIN2, BMPR2 | 2.40 |
| 41 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3 | 2.40 |
| 42 | Cat eye syndrome | Enrichment | FZD5, PAX6 | 2.30 |
| 43 | Heritable pulmonary arterial hypertension | Enrichment | BMPR2, SOX17 | 2.22 |
| 44 | Autism spectrum disorder | Enrichment | DIP2A, KDM6A, PBX1, SETD2, TCF4 | 2.18 |
| 45 | Epicanthus | Enrichment | ACVR1, TCF4 | 2.14 |
| 46 | Septooptic dysplasia | Enrichment | FGFR1, SOX2 | 2.14 |
| 47 | Pulmonary hypertension, primary, 1 | Enrichment | BMPR2, SOX17 | 2.08 |
| 48 | Stereotypic movement disorder | Enrichment | JARID2, TCF4 | 2.08 |
| 49 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3, SMAD6 | 2.01 |
| 50 | Chiari malformation type i | Enrichment | DKK1 | 1.97 |
| 51 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 1.97 |
| 52 | Acrodysostosis 1 with or without hormone resistance | Enrichment | PRKAR1A | 1.97 |
| 53 | Chondrosarcoma | Enrichment | EXT1 | 1.97 |
| 54 | Trigonocephaly 1 | Enrichment | FGFR1 | 1.97 |
| 55 | Velocardiofacial syndrome | Enrichment | TBX1 | 1.97 |
| 56 | Axenfeld-rieger syndrome, type 1 | Enrichment | PITX2 | 1.97 |
| 57 | Stapes ankylosis with broad thumbs and toes | Enrichment | NOG | 1.97 |
| 58 | Tarsal-carpal coalition syndrome | Enrichment | NOG | 1.97 |
| 59 | Hypertelorism and tetralogy of fallot | Enrichment | FOXC1 | 1.97 |
| 60 | Borjeson-forssman-lehmann syndrome | Enrichment | PHF6 | 1.97 |
| 61 | Shukla-vernon syndrome | Enrichment | BCORL1 | 1.97 |
| 62 | Kabuki syndrome 2 | Enrichment | KDM6A | 1.97 |
| 63 | Oligodontia-colorectal cancer syndrome | Enrichment | AXIN2 | 1.97 |
| 64 | Heterotaxy, visceral, 1, x-linked | Enrichment | ZIC3 | 1.97 |
| 65 | Carney complex, type 1 | Enrichment | PRKAR1A | 1.97 |
| 66 | Polyposis syndrome, hereditary mixed, 2 | Enrichment | BMPR1A | 1.97 |
| 67 | Brachydactyly, type b2 | Enrichment | NOG | 1.97 |
| 68 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development | Enrichment | YAP1 | 1.97 |
| 69 | Anterior segment dysgenesis 4 | Enrichment | PITX2 | 1.97 |
| 70 | Ectodermal dysplasia/short stature syndrome | Enrichment | GRHL2 | 1.97 |
| 71 | Symphalangism, proximal, 1a | Enrichment | NOG | 1.97 |
| 72 | Ring dermoid of cornea | Enrichment | PITX2 | 1.97 |
| 73 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | Enrichment | HNF4A | 1.97 |
| 74 | Caudal duplication anomaly | Enrichment | AXIN1 | 1.97 |
| 75 | Multiple synostoses syndrome 1 | Enrichment | NOG | 1.97 |
| 76 | Vesicoureteral reflux 3 | Enrichment | SOX17 | 1.97 |
| 77 | Aniridia 2 | Enrichment | ELP4 | 1.97 |
| 78 | Microphthalmia, isolated 7 | Enrichment | GDF3 | 1.97 |
| 79 | Radioulnar synostosis, nonsyndromic | Enrichment | SMAD6 | 1.97 |
| 80 | Atrioventricular septal defect 5 | Enrichment | GATA6 | 1.97 |
| 81 | Khan-khan-katsanis syndrome | Enrichment | NCAPG2 | 1.97 |
| 82 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 1.97 |
| 83 | Combined oxidative phosphorylation deficiency 33 | Enrichment | C1QBP | 1.97 |
| 84 | Intellectual developmental disorder, autosomal dominant 70 | Enrichment | SETD2 | 1.97 |
| 85 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Enrichment | PBX1 | 1.97 |
| 86 | Silver-russell syndrome 5 | Enrichment | HMGA2 | 1.97 |
| 87 | Heterotaxy, visceral, 5, autosomal | Enrichment | NODAL | 1.97 |
| 88 | Acetyl-coa carboxylase-alpha deficiency | Enrichment | ACACA | 1.97 |
| 89 | Immunodeficiency, developmental delay, and hypohomocysteinemia | Enrichment | NFE2L2 | 1.97 |
| 90 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 1.97 |
| 91 | Orofacial cleft 11 | Enrichment | BMP4 | 1.97 |
| 92 | Myxoma, intracardiac | Enrichment | PRKAR1A | 1.97 |
| 93 | Uveal coloboma-cleft lip and palate-intellectual disability | Enrichment | YAP1 | 1.97 |
| 94 | Developmental delay with variable intellectual disability and dysmorphic facies | Enrichment | JARID2 | 1.97 |
| 95 | Ovary adenocarcinoma | Enrichment | INHBA | 1.97 |
| 96 | Xia-gibbs syndrome | Enrichment | AHDC1 | 1.97 |
| 97 | Stature quantitative trait locus 9 | Enrichment | HMGA2 | 1.97 |
| 98 | Klippel-feil syndrome 3, autosomal dominant | Enrichment | GDF3 | 1.97 |
| 99 | Microphthalmia, syndromic 12 | Enrichment | RARB | 1.97 |
| 100 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 1.97 |
| 101 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 1.97 |
| 102 | Microphthalmia/coloboma 11 | Enrichment | FZD5 | 1.97 |
| 103 | Hypogonadotropic hypogonadism 6 with or without anosmia | Enrichment | FGF8 | 1.97 |
| 104 | Corneal dystrophy, fuchs endothelial, 3 | Enrichment | TCF4 | 1.97 |
| 105 | Atrial septal defect 9 | Enrichment | GATA6 | 1.97 |
| 106 | Corneal dystrophy, posterior polymorphous, 4 | Enrichment | GRHL2 | 1.97 |
| 107 | Hartsfield syndrome | Enrichment | FGFR1 | 1.97 |
| 108 | Hereditary multiple osteochondromas | Enrichment | EXT1 | 1.97 |
| 109 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 1.97 |
| 110 | Lopes-maciel-rodan syndrome | Enrichment | HTT | 1.97 |
| 111 | Hydrocephalus, congenital, 4 | Enrichment | TRIM71 | 1.97 |
| 112 | Holoprosencephaly 14 | Enrichment | PLCH1 | 1.97 |
| 113 | Exostosis | Enrichment | EXT1 | 1.97 |
| 114 | Peho-like syndrome | Enrichment | CCDC88A | 1.97 |
| 115 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 1.97 |
| 116 | Luscan-lumish syndrome | Enrichment | SETD2 | 1.97 |
| 117 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 1.97 |
| 118 | Rabin-pappas syndrome | Enrichment | SETD2 | 1.97 |
| 119 | Intellectual developmental disorder, autosomal recessive 81 | Enrichment | ASCC3 | 1.97 |
| 120 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 1.97 |
| 121 | Pulmonary hypertension, primary, 7 | Enrichment | SOX17 | 1.97 |
| 122 | Non-acquired combined pituitary hormone deficiency | Enrichment | FOXA2 | 1.97 |
| 123 | Neurodevelopmental disorder with speech delay and behavioral abnormalities | Enrichment | UBR5 | 1.97 |
| 124 | Huntington disease-like syndrome due to c9orf72 expansions | Enrichment | C9orf72 | 1.97 |
| 125 | Hyperinsulinism due to hnf4a deficiency | Enrichment | HNF4A | 1.97 |
| 126 | Primary pulmonary hypertension | Enrichment | BMPR2 | 1.97 |
| 127 | Pulmonary hypertension | Enrichment | BMPR2 | 1.97 |
| 128 | Wilms tumor 7 | Enrichment | TRIM28 | 1.97 |
| 129 | Drug- or toxin-induced pulmonary arterial hypertension | Enrichment | BMPR2 | 1.97 |
| 130 | Oligoasthenoteratozoospermia | Enrichment | BCORL1 | 1.97 |
| 131 | Hereditary multiple exostoses | Enrichment | EXT1 | 1.97 |
| 132 | Juvenile huntington disease | Enrichment | HTT | 1.97 |
| 133 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 1.97 |
| 134 | Autosomal dominant spondylocostal dysostosis | Enrichment | TBX6 | 1.97 |
| 135 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | Enrichment | EOMES | 1.97 |
| 136 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD2, SMAD3, SMAD4 | 1.92 |
| 137 | Inherited cancer-predisposing syndrome | Enrichment | AXIN2, BMPR1A, EXT2, PRKAR1A, SMAD4 | 1.84 |
| 138 | Colorectal cancer | Enrichment | AXIN2, CCND1, NFE2L2, SMAD4 | 1.83 |
| 139 | Heart, malformation of | Enrichment | NODAL, SMAD6 | 1.80 |
| 140 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGF8, FGFR1 | 1.80 |
| 141 | Autosomal dominant non-syndromic intellectual disability | Enrichment | DLL1, JARID2, TCF4 | 1.77 |
| 142 | Craniosynostosis | Enrichment | SMAD6, ZNF462 | 1.71 |
| 143 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 1.67 |
| 144 | Exostoses, multiple, type ii | Enrichment | EXT2 | 1.67 |
| 145 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome | Enrichment | GATA3 | 1.67 |
| 146 | Sveinsson chorioretinal atrophy | Enrichment | TEAD1 | 1.67 |
| 147 | Maturity-onset diabetes of the young, type 1 | Enrichment | HNF4A | 1.67 |
| 148 | Myhre syndrome | Enrichment | SMAD4 | 1.67 |
| 149 | Amelogenesis imperfecta, type ig | Enrichment | PRKAR1A | 1.67 |
| 150 | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | Enrichment | DNMT3B | 1.67 |
| 151 | Ulnar-mammary syndrome | Enrichment | TBX3 | 1.67 |
| 152 | Pulmonary venoocclusive disease 1, autosomal dominant | Enrichment | BMPR2 | 1.67 |
| 153 | Bladder exstrophy and epispadias complex | Enrichment | WNT3 | 1.67 |
| 154 | Axenfeld-rieger syndrome, type 3 | Enrichment | FOXC1 | 1.67 |
| 155 | Vacterl association, x-linked, with or without hydrocephalus | Enrichment | ZIC3 | 1.67 |
| 156 | Intellectual developmental disorder, x-linked, syndromic, cabezas type | Enrichment | CUL4B | 1.67 |
| 157 | Tetraamelia syndrome 1 | Enrichment | WNT3 | 1.67 |
| 158 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | PRKAR1A | 1.67 |
| 159 | Atrial fibrillation, familial, 1 | Enrichment | PITX2 | 1.67 |
| 160 | Deafness, autosomal dominant 28 | Enrichment | GRHL2 | 1.67 |
| 161 | Chromosome 22q11.2 duplication syndrome | Enrichment | TBX1 | 1.67 |
| 162 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 1.67 |
| 163 | Holoprosencephaly 5 | Enrichment | ZIC2 | 1.67 |
| 164 | Lymphedema-distichiasis syndrome | Enrichment | FOXC2 | 1.67 |
| 165 | Salivary gland adenoma, pleomorphic | Enrichment | HMGA2 | 1.67 |
| 166 | Pfeiffer syndrome | Enrichment | FGFR1 | 1.67 |
| 167 | Jackson-weiss syndrome | Enrichment | FGFR1 | 1.67 |
| 168 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 1.67 |
| 169 | Spondylocostal dysostosis 4, autosomal recessive | Enrichment | HES7 | 1.67 |
| 170 | Thrombocythemia 3 | Enrichment | JAK2 | 1.67 |
| 171 | Heterotaxy, visceral, 4, autosomal | Enrichment | ACVR2B | 1.67 |
| 172 | Cardiomyopathy, dilated, 1ff | Enrichment | KLF5 | 1.67 |
| 173 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.67 |
| 174 | Abdominal obesity-metabolic syndrome 3 | Enrichment | AHDC1 | 1.67 |
| 175 | Cone-rod dystrophy and hearing loss 2 | Enrichment | CEP250 | 1.67 |
| 176 | Neutropenia, severe congenital, 8, autosomal dominant | Enrichment | GATA6 | 1.67 |
| 177 | Anterior segment dysgenesis 3 | Enrichment | FOXC1 | 1.67 |
| 178 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RARB | 1.67 |
| 179 | Lissencephaly 9 with complex brainstem malformation | Enrichment | MACF1 | 1.67 |
| 180 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | Enrichment | DLL1 | 1.67 |
| 181 | Usher syndrome, type iv | Enrichment | PRKAR1A | 1.67 |
| 182 | Pettigrew syndrome | Enrichment | CUL4B | 1.67 |
| 183 | Pulmonary venoocclusive disease 1 | Enrichment | BMPR2 | 1.67 |
| 184 | Facioscapulohumeral muscular dystrophy 4, digenic | Enrichment | DNMT3B | 1.67 |
| 185 | Split hand-foot malformation | Enrichment | LEF1 | 1.67 |
| 186 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 1.67 |
| 187 | Seizures, scoliosis, and macrocephaly/microcephaly syndrome | Enrichment | EXT2 | 1.67 |
| 188 | Acrodysostosis | Enrichment | PRKAR1A | 1.67 |
| 189 | Microphthalmia/coloboma 6 | Enrichment | GDF3 | 1.67 |
| 190 | Fibrolamellar carcinoma | Enrichment | PRKACA | 1.67 |
| 191 | Aortic valve disease 2 | Enrichment | SMAD6 | 1.67 |
| 192 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | Enrichment | GATA3 | 1.67 |
| 193 | Proximal symphalangism | Enrichment | NOG | 1.67 |
| 194 | Hypoparathyroidism-deafness-renal disease syndrome | Enrichment | GATA3 | 1.67 |
| 195 | Polycythemia | Enrichment | JAK2 | 1.67 |
| 196 | Craniosynostosis 7 | Enrichment | SMAD6 | 1.67 |
| 197 | Hereditary mixed polyposis syndrome | Enrichment | BMPR1A | 1.67 |
| 198 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 1.67 |
| 199 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.67 |
| 200 | Weiss-kruszka syndrome | Enrichment | ZNF462 | 1.67 |
| 201 | Isolated primary pigmented nodular adrenocortical disease | Enrichment | PRKAR1A | 1.67 |
| 202 | Radioulnar synostosis | Enrichment | SMAD6 | 1.67 |
| 203 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | Enrichment | PBX1 | 1.67 |
| 204 | Autosomal dominant nonsyndromic deafness | Enrichment | GATA3 | 1.67 |
| 205 | 12q14 microdeletion syndrome | Enrichment | HMGA2 | 1.67 |
| 206 | Hypereosinophilic syndrome | Enrichment | JAK2 | 1.67 |
| 207 | Hyperinsulinism | Enrichment | HNF4A | 1.67 |
| 208 | Hyperinsulinism due to hnf1a deficiency | Enrichment | HNF4A | 1.67 |
| 209 | Pulmonary venoocclusive disease | Enrichment | BMPR2 | 1.67 |
| 210 | Renal hypoplasia, bilateral | Enrichment | PBX1 | 1.67 |
| 211 | Bladder exstrophy-epispadias-cloacal exstrophy complex | Enrichment | WNT3 | 1.67 |
| 212 | Juvenile polyposis of infancy | Enrichment | BMPR1A | 1.67 |
| 213 | Sleep apnea | Enrichment | AHDC1 | 1.67 |
| 214 | Idiopathic/heritable pulmonary arterial hypertension | Enrichment | BMPR2 | 1.67 |
| 215 | Malignant peritoneal mesothelioma | Enrichment | LATS1 | 1.67 |
| 216 | Metopic ridging-ptosis-facial dysmorphism syndrome | Enrichment | ZNF462 | 1.67 |
| 217 | Tooth agenesis | Enrichment | AXIN2, FGFR1 | 1.63 |
| 218 | Ovarian cancer | Enrichment | AXIN2, BMPR1A, EXT1, EXT2 | 1.62 |
| 219 | Kallmann syndrome | Enrichment | FGF8, FGFR1 | 1.59 |
| 220 | Familial atrial fibrillation | Enrichment | GATA6, PITX2 | 1.56 |
| 221 | Tetralogy of fallot | Enrichment | GATA6, TBX1 | 1.50 |
| 222 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.49 |
| 223 | Spondylocostal dysostosis 5 | Enrichment | TBX6 | 1.49 |
| 224 | Gillespie syndrome | Enrichment | PAX6 | 1.49 |
| 225 | Polycythemia vera | Enrichment | JAK2 | 1.49 |
| 226 | Lesch-nyhan syndrome | Enrichment | HPRT1 | 1.49 |
| 227 | Heart defects, congenital, and other congenital anomalies | Enrichment | GATA6 | 1.49 |
| 228 | Hyperuricemia, hprt-related | Enrichment | HPRT1 | 1.49 |
| 229 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.49 |
| 230 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2 | 1.49 |
| 231 | Dedifferentiated liposarcoma | Enrichment | HMGA2 | 1.49 |
| 232 | Loeys-dietz syndrome 1 | Enrichment | SMAD2 | 1.49 |
| 233 | Familial vesicoureteral reflux | Enrichment | SOX17 | 1.49 |
| 234 | End stage renal disease | Enrichment | GATA3 | 1.49 |
| 235 | Tetraamelia syndrome | Enrichment | WNT3 | 1.49 |
| 236 | Well-differentiated liposarcoma | Enrichment | HMGA2 | 1.49 |
| 237 | Pulmonary arterial hypertension associated with congenital heart disease | Enrichment | BMPR2 | 1.49 |
| 238 | Isolated klippel-feil syndrome | Enrichment | GDF3 | 1.49 |
| 239 | Trichorhinophalangeal syndrome, type ii | Enrichment | EXT1 | 1.37 |
| 240 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.37 |
| 241 | Huntington disease | Enrichment | HTT | 1.37 |
| 242 | Microphthalmia, syndromic 3 | Enrichment | SOX2 | 1.37 |
| 243 | Budd-chiari syndrome | Enrichment | JAK2 | 1.37 |
| 244 | Potocki-shaffer syndrome | Enrichment | EXT2 | 1.37 |
| 245 | Persistent mullerian duct syndrome, types i and ii | Enrichment | AMH | 1.37 |
| 246 | Pitt-hopkins syndrome | Enrichment | TCF4 | 1.37 |
| 247 | Maturity-onset diabetes of the young, type 3 | Enrichment | HNF4A | 1.37 |
| 248 | Carney complex variant | Enrichment | PRKAR1A | 1.37 |
| 249 | Arrhythmogenic right ventricular dysplasia, familial, 10 | Enrichment | PRKAR1A | 1.37 |
| 250 | Mantle cell lymphoma | Enrichment | CCND1 | 1.37 |
| 251 | Multiple synostoses syndrome | Enrichment | NOG | 1.37 |
| 252 | Malignant epithelioid hemangioendothelioma | Enrichment | YAP1 | 1.37 |
| 253 | Retinopathy of prematurity | Enrichment | FZD4 | 1.37 |
| 254 | Aortic aneurysm | Enrichment | SMAD3 | 1.37 |
| 255 | Corneal dystrophy | Enrichment | GRHL2 | 1.37 |
| 256 | Hydrocephalus, congenital, 2, with or without brain or eye anomalies | Enrichment | TRIM71 | 1.37 |
| 257 | Persistent mullerian duct syndrome | Enrichment | AMH | 1.37 |
| 258 | Silver-russell syndrome due to a point mutation | Enrichment | HMGA2 | 1.37 |
| 259 | Middle aortic syndrome | Enrichment | GATA6 | 1.37 |
| 260 | Isolated congenitally uncorrected transposition of the great arteries | Enrichment | ZIC3 | 1.37 |
| 261 | Complex neurodevelopmental disorder | Enrichment | BCORL1, HTT, JARID2, PPP2CA | 1.34 |
| 262 | Cakut | Enrichment | FOXC1, GATA3 | 1.28 |
| 263 | Kbg syndrome | Enrichment | TBX1 | 1.28 |
| 264 | Exudative vitreoretinopathy 1 | Enrichment | FZD4 | 1.28 |
| 265 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.28 |
| 266 | Norrie disease | Enrichment | FZD4 | 1.28 |
| 267 | Ventricular septal defect 1 | Enrichment | BMP7 | 1.28 |
| 268 | Cholangitis, primary sclerosing | Enrichment | TCF4 | 1.28 |
| 269 | Fuchs' endothelial dystrophy | Enrichment | TCF4 | 1.28 |
| 270 | Congenital ptosis | Enrichment | ZFHX4 | 1.28 |
| 271 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.28 |
| 272 | Juvenile glaucoma | Enrichment | FOXC1 | 1.28 |
| 273 | Persistent hyperplastic primary vitreous | Enrichment | FZD4 | 1.28 |
| 274 | 2q23.1 microduplication syndrome | Enrichment | ACVR2A | 1.28 |
| 275 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.28 |
| 276 | Kabuki syndrome 1 | Enrichment | KDM6A | 1.20 |
| 277 | Corneal dystrophy, posterior polymorphous, 1 | Enrichment | GRHL2 | 1.20 |
| 278 | Facioscapulohumeral muscular dystrophy 1 | Enrichment | DNMT3B | 1.20 |
| 279 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.20 |
| 280 | Wilms tumor 5 | Enrichment | TRIM28 | 1.20 |
| 281 | Immunodeficiency-centromeric instability-facial anomalies syndrome | Enrichment | DNMT3B | 1.20 |
| 282 | Adrenocortical carcinoma | Enrichment | PRKAR1A | 1.20 |
| 283 | Silver-russell syndrome 1 | Enrichment | HMGA2 | 1.13 |
| 284 | Myelofibrosis | Enrichment | JAK2 | 1.13 |
| 285 | Coats disease | Enrichment | FZD4 | 1.13 |
| 286 | Semantic dementia | Enrichment | C9orf72 | 1.13 |
| 287 | Essential thrombocythemia | Enrichment | JAK2 | 1.13 |
| 288 | Gallbladder cancer | Enrichment | SMAD4 | 1.13 |
| 289 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.13 |
| 290 | Pilomyxoid astrocytoma | Enrichment | FGFR1 | 1.13 |
| 291 | Congenital hydrocephalus | Enrichment | TRIM71 | 1.13 |
| 292 | Exudative vitreoretinopathy | Enrichment | FZD4 | 1.08 |
| 293 | Combined pituitary hormone deficiency | Enrichment | FOXA2 | 1.08 |
| 294 | Charge syndrome | Enrichment | KDM6A | 1.03 |
| 295 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.03 |
| 296 | Polydactyly | Enrichment | SMAD6 | 1.03 |
| 297 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.03 |
| 298 | Adult hepatocellular carcinoma | Enrichment | AXIN1 | 1.03 |
| 299 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.03 |
| 300 | Progressive non-fluent aphasia | Enrichment | C9orf72 | 1.03 |
| 301 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.03 |
| 302 | Behavioral variant of frontotemporal dementia | Enrichment | C9orf72 | 1.03 |
| 303 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 0.99 |
| 304 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Enrichment | C9orf72 | 0.99 |
| 305 | Stickler syndrome | Enrichment | BMP4 | 0.99 |
| 306 | Hypertelorism | Enrichment | ELP4, PAX6 | 0.96 |
| 307 | Meningioma, familial | Enrichment | SCHIP1 | 0.95 |
| 308 | Nanophthalmos | Enrichment | SOX2 | 0.95 |
| 309 | Familial colorectal cancer type x | Enrichment | BMPR1A | 0.95 |
| 310 | Digeorge syndrome | Enrichment | TBX1 | 0.91 |
| 311 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4 | 0.91 |
| 312 | Aortic valve disease 1 | Enrichment | SMAD6 | 0.88 |
| 313 | Diaphragmatic hernia, congenital | Enrichment | GATA6 | 0.88 |
| 314 | Acute promyelocytic leukemia | Enrichment | PRKAR1A | 0.88 |
| 315 | Primary ovarian insufficiency | Enrichment | JAK2, ZNF462 | 0.87 |
| 316 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 0.85 |
| 317 | Cleft lip/palate | Enrichment | BMP4 | 0.85 |
| 318 | Renal cell carcinoma, nonpapillary | Enrichment | SETD2 | 0.82 |
| 319 | Wilms tumor 1 | Enrichment | TRIM28 | 0.82 |
| 320 | Corpus callosum, agenesis of | Enrichment | SETD2 | 0.82 |
| 321 | Isolated corpus callosum agenesis | Enrichment | SETD2 | 0.82 |
| 322 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | SETD2 | 0.82 |
| 323 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | AHDC1 | 0.80 |
| 324 | Wolff-parkinson-white syndrome | Enrichment | NODAL | 0.80 |
| 325 | Hydrocephalus, congenital, 1 | Enrichment | SETD2 | 0.80 |
| 326 | Gliosarcoma | Enrichment | FGFR1 | 0.80 |
| 327 | Dandy-walker syndrome | Enrichment | SETD2 | 0.77 |
| 328 | Polycystic liver disease | Enrichment | HNF4A | 0.77 |
| 329 | Giant cell glioblastoma | Enrichment | FGFR1 | 0.77 |
| 330 | Autosomal dominant polycystic liver disease | Enrichment | HNF4A | 0.77 |
| 331 | Patent foramen ovale | Enrichment | GATA6 | 0.75 |
| 332 | Congenital myopathy | Enrichment | ASCC3 | 0.73 |
| 333 | Ehlers-danlos syndrome | Enrichment | SMAD3 | 0.73 |
| 334 | Maturity-onset diabetes of the young | Enrichment | HNF4A | 0.71 |
| 335 | Lissencephaly | Enrichment | MACF1 | 0.69 |
| 336 | Hepatoblastoma | Enrichment | EXT2 | 0.69 |
| 337 | Hepatocellular carcinoma | Enrichment | AXIN1 | 0.67 |
| 338 | Scoliosis | Enrichment | TBX6 | 0.64 |
| 339 | Pancreatic cancer | Enrichment | SMAD4 | 0.62 |
| 340 | Hydrops fetalis, nonimmune | Enrichment | FOXC2 | 0.61 |
| 341 | Bladder cancer | Enrichment | KDM6A | 0.57 |
| 342 | Hirschsprung disease 1 | Enrichment | AXIN2 | 0.57 |
| 343 | Differentiated thyroid carcinoma | Enrichment | CCDC6 | 0.57 |
| 344 | Visceral heterotaxy 5 | Enrichment | NODAL | 0.54 |
| 345 | Non-immune hydrops fetalis | Enrichment | FOXC2 | 0.54 |
| 346 | Lung cancer | Enrichment | NFE2L2 | 0.53 |
| 347 | Connective tissue disease | Enrichment | SMAD3 | 0.53 |
| 348 | Usher syndrome | Enrichment | CEP250 | 0.52 |
| 349 | Nephronophthisis | Enrichment | PIAS1 | 0.52 |
| 350 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.45 |
| 351 | Type 2 diabetes mellitus | Enrichment | HNF4A | 0.43 |
| 352 | Gastric cancer | Enrichment | SMAD4 | 0.43 |
| 353 | Hereditary breast carcinoma | Enrichment | ZNF462 | 0.42 |
| 354 | Microcephaly | Enrichment | TCF4, ZIC2 | 0.41 |
| 355 | Thrombocytopenia | Enrichment | SMAD4 | 0.39 |
| 356 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | GRHL2 | 0.36 |
| 357 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FGF8 | 0.34 |
| 358 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | C9orf72 | 0.33 |
| 359 | Autism | Enrichment | JARID2 | 0.26 |
| 360 | Breast cancer | Enrichment | ZNF462 | 0.25 |
| 361 | Dilated cardiomyopathy | Enrichment | GATA6 | 0.23 |
| 362 | Mitochondrial disease | Enrichment | C1QBP | 0.21 |
| 363 | Congenital nervous system abnormality | Enrichment | ZIC2 | 0.16 |
| 364 | Nervous system disease | Enrichment | ZIC2 | 0.16 |
| 365 | Hereditary retinal dystrophy | Enrichment | CEP250, FZD4 | 0.08 |
| 366 | Fundus dystrophy | Enrichment | CEP250, FZD4 | 0.08 |