| 1 | Congenital heart defects, multiple types, 4 | Enrichment | GATA4, GATA6 | 4.03 |
| 2 | Aniridia | Enrichment | FOXC1, PAX6 | 4.03 |
| 3 | Peters-plus syndrome | Enrichment | FOXC1, PAX6 | 3.38 |
| 4 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GRIN1, JARID2, SET | 3.31 |
| 5 | Septooptic dysplasia | Enrichment | HESX1, SOX2 | 3.22 |
| 6 | Anterior segment dysgenesis | Enrichment | FOXC1, PAX6 | 3.02 |
| 7 | Patent foramen ovale | Enrichment | GATA4, GATA6 | 2.86 |
| 8 | Macs syndrome | Enrichment | PAX6, SOX2 | 2.77 |
| 9 | Maturity-onset diabetes of the young | Enrichment | HNF4A, NEUROD1 | 2.77 |
| 10 | Microphthalmia | Enrichment | PAX6, SOX2 | 2.68 |
| 11 | Familial atrial fibrillation | Enrichment | GATA4, GATA6 | 2.61 |
| 12 | Tetralogy of fallot | Enrichment | GATA4, GATA6 | 2.54 |
| 13 | Basan syndrome | Enrichment | SMARCAD1 | 2.51 |
| 14 | Adermatoglyphia | Enrichment | SMARCAD1 | 2.51 |
| 15 | Huriez syndrome | Enrichment | SMARCAD1 | 2.51 |
| 16 | Hydrocephalus due to congenital stenosis of aqueduct of sylvius | Enrichment | L1CAM | 2.51 |
| 17 | Hypertelorism and tetralogy of fallot | Enrichment | FOXC1 | 2.51 |
| 18 | Heterotaxy, visceral, 1, x-linked | Enrichment | ZIC3 | 2.51 |
| 19 | Maturity-onset diabetes of the young, type 6 | Enrichment | NEUROD1 | 2.51 |
| 20 | Townes-brocks syndrome 1 | Enrichment | SALL1 | 2.51 |
| 21 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | Enrichment | HNF4A | 2.51 |
| 22 | Facial paresis, hereditary congenital, 3 | Enrichment | HOXB1 | 2.51 |
| 23 | Atrioventricular septal defect 4 | Enrichment | GATA4 | 2.51 |
| 24 | Atrioventricular septal defect 5 | Enrichment | GATA6 | 2.51 |
| 25 | Wilms tumor 6 | Enrichment | REST | 2.51 |
| 26 | Corpus callosum, partial agenesis of, x-linked | Enrichment | L1CAM | 2.51 |
| 27 | Hydrocephalus, congenital, x-linked | Enrichment | L1CAM | 2.51 |
| 28 | Masa syndrome | Enrichment | L1CAM | 2.51 |
| 29 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.51 |
| 30 | Developmental delay with variable intellectual disability and dysmorphic facies | Enrichment | JARID2 | 2.51 |
| 31 | Atrial fibrillation, familial, 8 | Enrichment | ZFHX3 | 2.51 |
| 32 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | Enrichment | GRIN1 | 2.51 |
| 33 | Ophthalmoplegia, external, with rib and vertebral anomalies | Enrichment | MYF5 | 2.51 |
| 34 | Atrial septal defect 2 | Enrichment | GATA4 | 2.51 |
| 35 | Deafness, autosomal dominant 27 | Enrichment | REST | 2.51 |
| 36 | Testicular anomalies with or without congenital heart disease | Enrichment | GATA4 | 2.51 |
| 37 | Arboleda-tham syndrome | Enrichment | KAT6A | 2.51 |
| 38 | Developmental and epileptic encephalopathy 101 | Enrichment | GRIN1 | 2.51 |
| 39 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | Enrichment | GRIN1 | 2.51 |
| 40 | Atrial septal defect 9 | Enrichment | GATA6 | 2.51 |
| 41 | Fibromatosis, gingival, 5 | Enrichment | REST | 2.51 |
| 42 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.51 |
| 43 | 8p23.1 microdeletion syndrome | Enrichment | GATA4 | 2.51 |
| 44 | Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay | Enrichment | NEUROG1 | 2.51 |
| 45 | Congenital hereditary facial paralysis-variable hearing loss syndrome | Enrichment | HOXB1 | 2.51 |
| 46 | Keratoderma with scleroatrophy of the extremities | Enrichment | SMARCAD1 | 2.51 |
| 47 | Sirenomelia | Enrichment | CDX2 | 2.51 |
| 48 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.51 |
| 49 | Hyperinsulinism due to hnf4a deficiency | Enrichment | HNF4A | 2.51 |
| 50 | Partial atrioventricular septal defect with ventricular hypoplasia | Enrichment | GATA4 | 2.51 |
| 51 | X-linked complicated spastic paraplegia type 1 | Enrichment | L1CAM | 2.51 |
| 52 | Intellectual disability, autosomal dominant 8 | Enrichment | GRIN1 | 2.51 |
| 53 | Anorectal malformation | Enrichment | CDX2 | 2.51 |
| 54 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.51 |
| 55 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | Enrichment | EOMES | 2.51 |
| 56 | Cakut | Enrichment | FOXC1, SALL1 | 2.31 |
| 57 | Keratitis, hereditary | Enrichment | PAX6 | 2.21 |
| 58 | Foveal hypoplasia 1 | Enrichment | PAX6 | 2.21 |
| 59 | Holoprosencephaly 2 | Enrichment | SIX3 | 2.21 |
| 60 | Maturity-onset diabetes of the young, type 1 | Enrichment | HNF4A | 2.21 |
| 61 | Fibromatosis, gingival, 1 | Enrichment | REST | 2.21 |
| 62 | Axenfeld-rieger syndrome, type 3 | Enrichment | FOXC1 | 2.21 |
| 63 | Vacterl association, x-linked, with or without hydrocephalus | Enrichment | ZIC3 | 2.21 |
| 64 | Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities | Enrichment | FOXC1 | 2.21 |
| 65 | Pituitary hormone deficiency, combined or isolated, 1 | Enrichment | HESX1 | 2.21 |
| 66 | Solitary median maxillary central incisor | Enrichment | SIX3 | 2.21 |
| 67 | Optic nerve hypoplasia, bilateral | Enrichment | PAX6 | 2.21 |
| 68 | Neutropenia, severe congenital, 8, autosomal dominant | Enrichment | GATA6 | 2.21 |
| 69 | Anterior segment dysgenesis 3 | Enrichment | FOXC1 | 2.21 |
| 70 | Bladder exstrophy | Enrichment | ISL1 | 2.21 |
| 71 | Bilateral generalized polymicrogyria | Enrichment | GRIN1 | 2.21 |
| 72 | Townes-brocks syndrome | Enrichment | SALL1 | 2.21 |
| 73 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | KAT6A | 2.21 |
| 74 | 46,xy sex reversal 3 | Enrichment | GATA4 | 2.21 |
| 75 | Intellectual developmental disorder, autosomal dominant 58 | Enrichment | SET | 2.21 |
| 76 | Axenfeld-rieger syndrome | Enrichment | FOXC1 | 2.21 |
| 77 | Hyperinsulinism | Enrichment | HNF4A | 2.21 |
| 78 | Hyperinsulinism due to hnf1a deficiency | Enrichment | HNF4A | 2.21 |
| 79 | Type 2 diabetes mellitus | Enrichment | HNF4A, NEUROD1 | 2.13 |
| 80 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.03 |
| 81 | Gillespie syndrome | Enrichment | PAX6 | 2.03 |
| 82 | Heart defects, congenital, and other congenital anomalies | Enrichment | GATA6 | 2.03 |
| 83 | Spinocerebellar ataxia 4 | Enrichment | ZFHX3 | 2.03 |
| 84 | Autoimmune disease 1 | Enrichment | FOXD3 | 2.03 |
| 85 | Arthrogryposis multiplex congenita 6 | Enrichment | RIF1 | 2.03 |
| 86 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 2.03 |
| 87 | Hyper ige syndrome | Enrichment | STAT3 | 2.03 |
| 88 | Aniridia 1 | Enrichment | PAX6 | 1.91 |
| 89 | Nemaline myopathy 2 | Enrichment | RIF1 | 1.91 |
| 90 | Microphthalmia, syndromic 3 | Enrichment | SOX2 | 1.91 |
| 91 | Schizencephaly | Enrichment | SIX3 | 1.91 |
| 92 | Maturity-onset diabetes of the young, type 3 | Enrichment | HNF4A | 1.91 |
| 93 | Eyelid coloboma | Enrichment | PAX6 | 1.91 |
| 94 | Transposition of the great arteries | Enrichment | GATA4 | 1.91 |
| 95 | Middle aortic syndrome | Enrichment | GATA6 | 1.91 |
| 96 | Gingival fibromatosis | Enrichment | REST | 1.91 |
| 97 | Isolated congenitally uncorrected transposition of the great arteries | Enrichment | ZIC3 | 1.91 |
| 98 | Lens coloboma | Enrichment | PAX6 | 1.91 |
| 99 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | ESX1, GATA4 | 1.89 |
| 100 | Ventricular septal defect 1 | Enrichment | GATA4 | 1.81 |
| 101 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | L1CAM | 1.81 |
| 102 | Juvenile glaucoma | Enrichment | FOXC1 | 1.81 |
| 103 | Coloboma of choroid and retina | Enrichment | PAX6 | 1.81 |
| 104 | Persistent truncus arteriosus | Enrichment | GATA6 | 1.81 |
| 105 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | Enrichment | HESX1 | 1.81 |
| 106 | Coloboma of optic nerve | Enrichment | PAX6 | 1.73 |
| 107 | Conotruncal heart malformations | Enrichment | GATA6 | 1.73 |
| 108 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | PAX6 | 1.73 |
| 109 | Anterior segment dysgenesis 5 | Enrichment | PAX6 | 1.73 |
| 110 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.61 |
| 111 | Combined pituitary hormone deficiency | Enrichment | HESX1 | 1.61 |
| 112 | Hydrops fetalis | Enrichment | L1CAM | 1.56 |
| 113 | Cat eye syndrome | Enrichment | PAX6 | 1.52 |
| 114 | Nemaline myopathy | Enrichment | RIF1 | 1.52 |
| 115 | Nanophthalmos | Enrichment | SOX2 | 1.47 |
| 116 | Microphthalmia/coloboma 12 | Enrichment | PAX6 | 1.40 |
| 117 | Diaphragmatic hernia, congenital | Enrichment | GATA6 | 1.40 |
| 118 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.40 |
| 119 | Stereotypic movement disorder | Enrichment | JARID2 | 1.40 |
| 120 | Aortic aneurysm, familial thoracic 1 | Enrichment | GATA4 | 1.37 |
| 121 | Heart disease | Enrichment | GATA4 | 1.37 |
| 122 | Pituitary stalk interruption syndrome | Enrichment | HESX1 | 1.37 |
| 123 | 46,xy partial gonadal dysgenesis | Enrichment | GATA4 | 1.37 |
| 124 | Coloboma of macula | Enrichment | PAX6 | 1.34 |
| 125 | Wilms tumor 1 | Enrichment | REST | 1.34 |
| 126 | Septopreoptic holoprosencephaly | Enrichment | SIX3 | 1.34 |
| 127 | Male infertility with spermatogenesis disorder | Enrichment | HESX1 | 1.34 |
| 128 | Midline interhemispheric variant of holoprosencephaly | Enrichment | SIX3 | 1.34 |
| 129 | Microform holoprosencephaly | Enrichment | SIX3 | 1.31 |
| 130 | Lobar holoprosencephaly | Enrichment | SIX3 | 1.31 |
| 131 | Polycystic liver disease | Enrichment | HNF4A | 1.29 |
| 132 | Syndromic intellectual disability | Enrichment | KAT6A | 1.29 |
| 133 | Autosomal dominant polycystic liver disease | Enrichment | HNF4A | 1.29 |
| 134 | Alobar holoprosencephaly | Enrichment | SIX3 | 1.29 |
| 135 | Heart, malformation of | Enrichment | GATA4 | 1.27 |
| 136 | Early infantile developmental and epileptic encephalopathy | Enrichment | GRIN1 | 1.27 |
| 137 | Semilobar holoprosencephaly | Enrichment | SIX3 | 1.27 |
| 138 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 1.24 |
| 139 | Craniosynostosis | Enrichment | KAT6A | 1.22 |
| 140 | Visceral heterotaxy | Enrichment | ZIC3 | 1.18 |
| 141 | Kallmann syndrome | Enrichment | HESX1 | 1.16 |
| 142 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | SET | 1.16 |
| 143 | Scoliosis | Enrichment | MYF5 | 1.14 |
| 144 | Muscular dystrophy | Enrichment | RIF1 | 1.14 |
| 145 | Developmental and epileptic encephalopathy 1 | Enrichment | GRIN1 | 1.13 |
| 146 | Prostate cancer | Enrichment | ZFHX3 | 1.07 |
| 147 | Differentiated thyroid carcinoma | Enrichment | TRIM24 | 1.07 |
| 148 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN1 | 0.92 |
| 149 | Centralopathic epilepsy | Enrichment | GRIN1 | 0.90 |
| 150 | West syndrome | Enrichment | GRIN1 | 0.89 |
| 151 | Hypertelorism | Enrichment | PAX6 | 0.83 |
| 152 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | REST | 0.83 |
| 153 | Autosomal recessive non-syndromic intellectual disability | Enrichment | GRIN1 | 0.78 |
| 154 | Autism | Enrichment | JARID2 | 0.70 |
| 155 | Dilated cardiomyopathy | Enrichment | GATA6 | 0.66 |
| 156 | Ovarian cancer | Enrichment | TRIM24 | 0.57 |
| 157 | Autism spectrum disorder | Enrichment | KAT6A | 0.54 |
| 158 | Complex neurodevelopmental disorder | Enrichment | JARID2 | 0.49 |
| 159 | Hereditary retinal dystrophy | Enrichment | NEUROD1 | 0.22 |
| 160 | Fundus dystrophy | Enrichment | NEUROD1 | 0.22 |