| 1 | Ventricular septal defect 1 | Enrichment | BMP2, BMP7, GATA4 | 5.48 |
| 2 | Atrial septal defect 1 | Enrichment | BMP2, TBX5, TGFB2 | 5.18 |
| 3 | Stickler syndrome | Enrichment | BMP4, COL2A1, VCAN | 4.41 |
| 4 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | COL2A1, FN1 | 4.31 |
| 5 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | COL2A1, FN1 | 4.31 |
| 6 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 4.31 |
| 7 | Proximal symphalangism | Enrichment | GDF5, NOG | 4.31 |
| 8 | Familial hypertrophic cardiomyopathy | Enrichment | DES, MYL3, TNNI3, TNNT2 | 4.10 |
| 9 | Heart disease | Enrichment | GATA4, NKX2-5, TBX5 | 3.94 |
| 10 | Dilated cardiomyopathy | Enrichment | DES, NKX2-5, TBX5, TNNI3, TNNT2 | 3.62 |
| 11 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2, BGN, TGFB2, TGFB3 | 3.61 |
| 12 | Heart, malformation of | Enrichment | COL2A1, GATA4, TBX5 | 3.60 |
| 13 | Patent foramen ovale | Enrichment | GATA4, NKX2-5, TBX5 | 3.60 |
| 14 | Brachydactyly, type a2 | Enrichment | BMP2, GDF5 | 3.54 |
| 15 | Leptin deficiency or dysfunction | Enrichment | LEP, PPARG | 3.54 |
| 16 | Multiple synostoses syndrome | Enrichment | GDF5, NOG | 3.54 |
| 17 | Arteriovenous malformations of the brain | Enrichment | CDH2, ENG, IL6 | 3.53 |
| 18 | Rhabdomyosarcoma 2 | Enrichment | PAX3, PAX7 | 3.32 |
| 19 | Atrioventricular septal defect | Enrichment | BMP5, TBX5 | 3.32 |
| 20 | Congenital heart defects, multiple types, 4 | Enrichment | BMP7, GATA4 | 3.32 |
| 21 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | CEBPA, KIT | 3.32 |
| 22 | Type 1 diabetes mellitus | Enrichment | IL6, INS | 3.15 |
| 23 | Familial isolated restrictive cardiomyopathy | Enrichment | TNNI3, TNNT2 | 3.00 |
| 24 | Hemochromatosis, type 1 | Enrichment | BMP2, BMP6 | 2.88 |
| 25 | Myocarditis | Enrichment | TNNI3, TNNT2 | 2.88 |
| 26 | Hypoplastic left heart syndrome | Enrichment | GJA1, NKX2-5 | 2.88 |
| 27 | Connective tissue disease | Enrichment | ACTA2, COL2A1, SOX9 | 2.85 |
| 28 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | TNNI3, TNNT2 | 2.77 |
| 29 | Loeys-dietz syndrome | Enrichment | TGFB2, TGFB3 | 2.77 |
| 30 | Left ventricular noncompaction | Enrichment | NKX2-5, TNNI3, TNNT2 | 2.73 |
| 31 | Marfan syndrome | Enrichment | COL2A1, TGFB2 | 2.68 |
| 32 | Systemic lupus erythematosus | Enrichment | ENG, ITGAM, SPP1 | 2.60 |
| 33 | Atrial heart septal defect | Enrichment | NKX2-5, TBX5 | 2.59 |
| 34 | Interatrial communication | Enrichment | NKX2-5, TBX5 | 2.59 |
| 35 | Meningioma | Enrichment | BAP1, PDGFB | 2.51 |
| 36 | Restrictive cardiomyopathy | Enrichment | TNNI3, TNNT2 | 2.51 |
| 37 | Type 2 diabetes mellitus | Enrichment | IL6, PPARG, SLC2A4 | 2.50 |
| 38 | Hypertrophic cardiomyopathy | Enrichment | MYL3, TNNI3, TNNT2 | 2.47 |
| 39 | Osteogenesis imperfecta, type iv | Enrichment | SP7, SPARC | 2.44 |
| 40 | Lung cancer susceptibility 3 | Enrichment | ACTA2, FGF10 | 2.38 |
| 41 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2, TGFB3 | 2.38 |
| 42 | 46,xy partial gonadal dysgenesis | Enrichment | GATA4, SOX9 | 2.38 |
| 43 | Septopreoptic holoprosencephaly | Enrichment | CRIPTO, FGF8 | 2.32 |
| 44 | Midline interhemispheric variant of holoprosencephaly | Enrichment | CRIPTO, FGF8 | 2.32 |
| 45 | Microform holoprosencephaly | Enrichment | CRIPTO, FGF8 | 2.26 |
| 46 | Lobar holoprosencephaly | Enrichment | CRIPTO, FGF8 | 2.26 |
| 47 | Familial isolated dilated cardiomyopathy | Enrichment | DES, TNNI3, TNNT2 | 2.22 |
| 48 | Alobar holoprosencephaly | Enrichment | CRIPTO, FGF8 | 2.21 |
| 49 | Semilobar holoprosencephaly | Enrichment | CRIPTO, FGF8 | 2.16 |
| 50 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 2.15 |
| 51 | Stickler syndrome, type i | Enrichment | COL2A1 | 2.15 |
| 52 | Cardiomyopathy, familial hypertrophic, 2 | Enrichment | TNNT2 | 2.15 |
| 53 | Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans | Enrichment | ACAN | 2.15 |
| 54 | Craniofacial-deafness-hand syndrome | Enrichment | PAX3 | 2.15 |
| 55 | Parietal foramina with cleidocranial dysplasia | Enrichment | MSX2 | 2.15 |
| 56 | Atrial septal defect 7 with or without atrioventricular conduction defects | Enrichment | NKX2-5 | 2.15 |
| 57 | Waardenburg syndrome, type 3 | Enrichment | PAX3 | 2.15 |
| 58 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | Enrichment | COL2A1 | 2.15 |
| 59 | Mullerian aplasia and hyperandrogenism | Enrichment | WNT4 | 2.15 |
| 60 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 2.15 |
| 61 | Spondylometaphyseal dysplasia, algerian type | Enrichment | COL2A1 | 2.15 |
| 62 | Stapes ankylosis with broad thumbs and toes | Enrichment | NOG | 2.15 |
| 63 | Tarsal-carpal coalition syndrome | Enrichment | NOG | 2.15 |
| 64 | Hypothyroidism, congenital, nongoitrous, 5 | Enrichment | NKX2-5 | 2.15 |
| 65 | Systemic lupus erythematosus 6 | Enrichment | ITGAM | 2.15 |
| 66 | Osteoarthritis with mild chondrodysplasia | Enrichment | COL2A1 | 2.15 |
| 67 | Avascular necrosis of femoral head, primary, 1 | Enrichment | COL2A1 | 2.15 |
| 68 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.15 |
| 69 | Cardiomyopathy, dilated, 2a | Enrichment | TNNI3 | 2.15 |
| 70 | Czech dysplasia | Enrichment | COL2A1 | 2.15 |
| 71 | Angel-shaped phalangoepiphyseal dysplasia | Enrichment | GDF5 | 2.15 |
| 72 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | Enrichment | WNT4 | 2.15 |
| 73 | Mastocytosis, cutaneous | Enrichment | KIT | 2.15 |
| 74 | Cardiomyopathy, familial hypertrophic, 8 | Enrichment | MYL3 | 2.15 |
| 75 | Cardiomyopathy, familial restrictive, 3 | Enrichment | TNNT2 | 2.15 |
| 76 | Intellectual developmental disorder, autosomal dominant 3 | Enrichment | CDH15 | 2.15 |
| 77 | Melanoma, uveal 2 | Enrichment | BAP1 | 2.15 |
| 78 | Holt-oram syndrome | Enrichment | TBX5 | 2.15 |
| 79 | Brachydactyly, type b2 | Enrichment | NOG | 2.15 |
| 80 | Oculodentodigital dysplasia | Enrichment | GJA1 | 2.15 |
| 81 | Kniest dysplasia | Enrichment | COL2A1 | 2.15 |
| 82 | Raph blood group system | Enrichment | CD151 | 2.15 |
| 83 | Cardiomyopathy, familial hypertrophic, 7 | Enrichment | TNNI3 | 2.15 |
| 84 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.15 |
| 85 | Parietal foramina 1 | Enrichment | MSX2 | 2.15 |
| 86 | Platyspondylic lethal skeletal dysplasia, torrance type | Enrichment | COL2A1 | 2.15 |
| 87 | Split-hand/foot malformation 6 | Enrichment | WNT10B | 2.15 |
| 88 | Lamb-shaffer syndrome | Enrichment | SOX5 | 2.15 |
| 89 | Symphalangism, proximal, 1a | Enrichment | NOG | 2.15 |
| 90 | Spondyloepiphyseal dysplasia, stanescu type | Enrichment | COL2A1 | 2.15 |
| 91 | Multiple synostoses syndrome 1 | Enrichment | NOG | 2.15 |
| 92 | Tooth agenesis, selective, 8 | Enrichment | WNT10B | 2.15 |
| 93 | Scapuloperoneal syndrome, neurogenic, kaeser type | Enrichment | DES | 2.15 |
| 94 | Agammaglobulinemia 3, autosomal recessive | Enrichment | CD79A | 2.15 |
| 95 | Atrioventricular septal defect 4 | Enrichment | GATA4 | 2.15 |
| 96 | Aplasia of lacrimal and salivary glands | Enrichment | FGF10 | 2.15 |
| 97 | Achondrogenesis, type ii | Enrichment | COL2A1 | 2.15 |
| 98 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 2.15 |
| 99 | 46,xy sex reversal 10 | Enrichment | SOX9 | 2.15 |
| 100 | Amegakaryocytic thrombocytopenia, congenital, 2 | Enrichment | THPO | 2.15 |
| 101 | Tolchin-le caignec syndrome | Enrichment | SOX6 | 2.15 |
| 102 | 46,xx sex reversal 2 | Enrichment | SOX9 | 2.15 |
| 103 | Meester-loeys syndrome | Enrichment | BGN | 2.15 |
| 104 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.15 |
| 105 | Spondyloperipheral dysplasia | Enrichment | COL2A1 | 2.15 |
| 106 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.15 |
| 107 | Orofacial cleft 11 | Enrichment | BMP4 | 2.15 |
| 108 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 2.15 |
| 109 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 2.15 |
| 110 | Lacrimoauriculodentodigital syndrome 3 | Enrichment | FGF10 | 2.15 |
| 111 | Spondyloepimetaphyseal dysplasia, aggrecan type | Enrichment | ACAN | 2.15 |
| 112 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.15 |
| 113 | Spondyloepiphyseal dysplasia, kimberley type | Enrichment | ACAN | 2.15 |
| 114 | Craniosynostosis 2 | Enrichment | MSX2 | 2.15 |
| 115 | Ophthalmoplegia, external, with rib and vertebral anomalies | Enrichment | MYF5 | 2.15 |
| 116 | Birdshot chorioretinopathy | Enrichment | HLA-A | 2.15 |
| 117 | Congenital myopathy 19 | Enrichment | PAX7 | 2.15 |
| 118 | Epidermolysis bullosa simplex 7, with nephropathy and deafness | Enrichment | CD151 | 2.15 |
| 119 | Atrial septal defect 2 | Enrichment | GATA4 | 2.15 |
| 120 | Stickler syndrome, type i, nonsyndromic ocular | Enrichment | COL2A1 | 2.15 |
| 121 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.15 |
| 122 | Ventricular septal defect 3 | Enrichment | NKX2-5 | 2.15 |
| 123 | Iron overload | Enrichment | BMP6 | 2.15 |
| 124 | Hereditary thrombocytosis with transverse limb defect | Enrichment | THPO | 2.15 |
| 125 | Congenital myopathy 17 | Enrichment | MYOD1 | 2.15 |
| 126 | Testicular anomalies with or without congenital heart disease | Enrichment | GATA4 | 2.15 |
| 127 | Immunodeficiency, common variable, 3 | Enrichment | CD19 | 2.15 |
| 128 | Hypogonadotropic hypogonadism 6 with or without anosmia | Enrichment | FGF8 | 2.15 |
| 129 | Immunodeficiency 105, severe combined | Enrichment | PTPRC | 2.15 |
| 130 | Hypoplastic left heart syndrome 2 | Enrichment | NKX2-5 | 2.15 |
| 131 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.15 |
| 132 | 20p12.3 microdeletion syndrome | Enrichment | BMP2 | 2.15 |
| 133 | 8p23.1 microdeletion syndrome | Enrichment | GATA4 | 2.15 |
| 134 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 2.15 |
| 135 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | Enrichment | BMP2 | 2.15 |
| 136 | Cd45 deficiency | Enrichment | PTPRC | 2.15 |
| 137 | Chronic mast cell leukemia | Enrichment | KIT | 2.15 |
| 138 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | Enrichment | COL2A1 | 2.15 |
| 139 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.15 |
| 140 | Thrombocytopenia 9 | Enrichment | THPO | 2.15 |
| 141 | Pparg-associated congenital generalized lipodystrophy | Enrichment | PPARG | 2.15 |
| 142 | Short-rib thoracic dysplasia 22 without polydactyly | Enrichment | FGF4 | 2.15 |
| 143 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 2.15 |
| 144 | Aortic arch interruption | Enrichment | NKX2-5 | 2.15 |
| 145 | Isolated bone marrow mastocytosis | Enrichment | KIT | 2.15 |
| 146 | Autosomal dominant rhegmatogenous retinal detachment | Enrichment | COL2A1 | 2.15 |
| 147 | Smoldering systemic mastocytosis | Enrichment | KIT | 2.15 |
| 148 | Multiple epiphyseal dysplasia with myopia and deafness | Enrichment | COL2A1 | 2.15 |
| 149 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 2.15 |
| 150 | Hypochondrogenesis | Enrichment | COL2A1 | 2.15 |
| 151 | Agammaglobulinemia 3 | Enrichment | CD79A | 2.15 |
| 152 | Acute myeloid leukemia with mutated cebpa | Enrichment | CEBPA | 2.15 |
| 153 | Atrial heart septal defect 7 | Enrichment | NKX2-5 | 2.15 |
| 154 | Mastocytosis | Enrichment | KIT | 2.15 |
| 155 | Partial atrioventricular septal defect with ventricular hypoplasia | Enrichment | GATA4 | 2.15 |
| 156 | Osteochondritis dissecans | Enrichment | ACAN | 2.15 |
| 157 | Dysspondyloenchondromatosis | Enrichment | COL2A1 | 2.15 |
| 158 | Cutaneous mastocytoma | Enrichment | KIT | 2.15 |
| 159 | Typical urticaria pigmentosa | Enrichment | KIT | 2.15 |
| 160 | Mef2c-related disorder | Enrichment | MEF2C | 2.15 |
| 161 | Nodular urticaria pigmentosa | Enrichment | KIT | 2.15 |
| 162 | Type 2 collagen-related bone disorder | Enrichment | COL2A1 | 2.15 |
| 163 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.15 |
| 164 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 2.15 |
| 165 | Acute mast cell leukemia | Enrichment | KIT | 2.15 |
| 166 | Short stature-advanced bone age-early-onset osteoarthritis syndrome | Enrichment | ACAN | 2.15 |
| 167 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.15 |
| 168 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 2.15 |
| 169 | Interstitial lung disease specific to childhood | Enrichment | FGF10 | 2.15 |
| 170 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.15 |
| 171 | Testis seminoma | Enrichment | KIT | 2.15 |
| 172 | Cardiomyopathy, dilated, 1a | Enrichment | LPL, TNNI3 | 2.03 |
| 173 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | TNNI3, TNNT2 | 1.92 |
| 174 | Familial atrial fibrillation | Enrichment | GATA4, NKX2-5 | 1.92 |
| 175 | Scoliosis | Enrichment | COL2A1, MYF5 | 1.92 |
| 176 | Hypoparathyroidism, familial isolated, 1 | Enrichment | PTH | 1.86 |
| 177 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 1.86 |
| 178 | Cardiomyopathy, familial restrictive, 1 | Enrichment | TNNI3 | 1.86 |
| 179 | Wagner vitreoretinopathy | Enrichment | VCAN | 1.86 |
| 180 | Campomelic dysplasia | Enrichment | SOX9 | 1.86 |
| 181 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.86 |
| 182 | Hyperlipoproteinemia, type i | Enrichment | LPL | 1.86 |
| 183 | Craniodiaphyseal dysplasia | Enrichment | SP7 | 1.86 |
| 184 | Otospondylomegaepiphyseal dysplasia, autosomal recessive | Enrichment | COL2A1 | 1.86 |
| 185 | Thumb deformity | Enrichment | TBX5 | 1.86 |
| 186 | Spondyloepimetaphyseal dysplasia, x-linked | Enrichment | BGN | 1.86 |
| 187 | Pulmonary hypoplasia, primary | Enrichment | FGF10 | 1.86 |
| 188 | Carotid intimal medial thickness 1 | Enrichment | PPARG | 1.86 |
| 189 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 1.86 |
| 190 | Severe cutaneous adverse reaction | Enrichment | HLA-A | 1.86 |
| 191 | Pulmonary arteriovenous fistulas | Enrichment | ENG | 1.86 |
| 192 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 1.86 |
| 193 | Piebald trait | Enrichment | KIT | 1.86 |
| 194 | Corneal dystrophy, congenital stromal | Enrichment | DCN | 1.86 |
| 195 | Legg-calve-perthes disease | Enrichment | COL2A1 | 1.86 |
| 196 | Multiple synostoses syndrome 2 | Enrichment | GDF5 | 1.86 |
| 197 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 1.86 |
| 198 | Osteogenesis imperfecta, type xii | Enrichment | SP7 | 1.86 |
| 199 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 1.86 |
| 200 | Hallermann-streiff syndrome | Enrichment | GJA1 | 1.86 |
| 201 | Cardiomyopathy, dilated, 1i | Enrichment | DES | 1.86 |
| 202 | Lipase deficiency, combined | Enrichment | LPL | 1.86 |
| 203 | Cardiomyopathy, familial hypertrophic, 25 | Enrichment | TNNI3 | 1.86 |
| 204 | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Enrichment | COL2A1 | 1.86 |
| 205 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 1.86 |
| 206 | Moyamoya disease 5 | Enrichment | ACTA2 | 1.86 |
| 207 | Cardiomyopathy, dilated, 1dd | Enrichment | TNNT2 | 1.86 |
| 208 | Schwartz-jampel syndrome, type 1 | Enrichment | HSPG2 | 1.86 |
| 209 | Syndactyly, type iii | Enrichment | GJA1 | 1.86 |
| 210 | Syndactyly, type v | Enrichment | GJA1 | 1.86 |
| 211 | Brachydactyly, type a1, c | Enrichment | GDF5 | 1.86 |
| 212 | Cardiomyopathy, dilated, 1ff | Enrichment | TNNI3 | 1.86 |
| 213 | Symphalangism, proximal, 1b | Enrichment | GDF5 | 1.86 |
| 214 | Cardiomyopathy, dilated, 1d | Enrichment | TNNT2 | 1.86 |
| 215 | Hyperproinsulinemia | Enrichment | INS | 1.86 |
| 216 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.86 |
| 217 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 1.86 |
| 218 | Parietal foramina | Enrichment | MSX2 | 1.86 |
| 219 | Progressive familial heart block | Enrichment | DES | 1.86 |
| 220 | Osteogenesis imperfecta, type xvii | Enrichment | SPARC | 1.86 |
| 221 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.86 |
| 222 | 46,xy sex reversal 3 | Enrichment | GATA4 | 1.86 |
| 223 | Immunodeficiency 104, severe combined | Enrichment | PTPRC | 1.86 |
| 224 | Ocular melanoma | Enrichment | BAP1 | 1.86 |
| 225 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 1.86 |
| 226 | Familial avascular necrosis of the femoral head | Enrichment | COL2A1 | 1.86 |
| 227 | Familial lipoprotein lipase deficiency | Enrichment | LPL | 1.86 |
| 228 | Aortic valve disease 2 | Enrichment | TBX5 | 1.86 |
| 229 | Craniosynostosis 7 | Enrichment | BMP2 | 1.86 |
| 230 | Congenital amegakaryocytic thrombocytopenia | Enrichment | THPO | 1.86 |
| 231 | Familial isolated congenital asplenia | Enrichment | NKX2-5 | 1.86 |
| 232 | Kury-isidor syndrome | Enrichment | BAP1 | 1.86 |
| 233 | Wagner disease | Enrichment | VCAN | 1.86 |
| 234 | Common variable immunodeficiency phenotype due to cd19/cd81 deficiency | Enrichment | CD19 | 1.86 |
| 235 | Familial partial lipodystrophy | Enrichment | PPARG | 1.86 |
| 236 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 1.86 |
| 237 | Deletion 5q35 | Enrichment | NKX2-5 | 1.86 |
| 238 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 1.86 |
| 239 | Campomelic dysplasia and related disorders | Enrichment | SOX9 | 1.86 |
| 240 | Tetralogy of fallot | Enrichment | GATA4, NKX2-5 | 1.85 |
| 241 | Brachydactyly, type a1 | Enrichment | GDF5 | 1.68 |
| 242 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 1.68 |
| 243 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGF10 | 1.68 |
| 244 | Mccune-albright syndrome | Enrichment | COL2A1 | 1.68 |
| 245 | Brachydactyly, type c | Enrichment | GDF5 | 1.68 |
| 246 | Type 1 diabetes mellitus 2 | Enrichment | INS | 1.68 |
| 247 | Mesothelioma, malignant | Enrichment | BAP1 | 1.68 |
| 248 | Spondyloepiphyseal dysplasia congenita | Enrichment | COL2A1 | 1.68 |
| 249 | Acromesomelic dysplasia 2a | Enrichment | GDF5 | 1.68 |
| 250 | Thrombocythemia 1 | Enrichment | THPO | 1.68 |
| 251 | Acromesomelic dysplasia 2c | Enrichment | GDF5 | 1.68 |
| 252 | Acromesomelic dysplasia 2b | Enrichment | GDF5 | 1.68 |
| 253 | Dyssegmental dysplasia, silverman-handmaker type | Enrichment | HSPG2 | 1.68 |
| 254 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | WNT4 | 1.68 |
| 255 | Microphthalmia, syndromic 9 | Enrichment | WNT7B | 1.68 |
| 256 | 46,xx sex reversal 1 | Enrichment | SOX9 | 1.68 |
| 257 | Myopathy, myofibrillar, 1 | Enrichment | DES | 1.68 |
| 258 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.68 |
| 259 | Transposition of the great arteries, dextro-looped | Enrichment | BMP2 | 1.68 |
| 260 | Adiponectin deficiency | Enrichment | ADIPOQ | 1.68 |
| 261 | Dyskeratosis congenita, autosomal dominant 6 | Enrichment | THPO | 1.68 |
| 262 | Tumor predisposition syndrome 1 | Enrichment | BAP1 | 1.68 |
| 263 | Familial isolated hypoparathyroidism | Enrichment | PTH | 1.68 |
| 264 | Testicular germ cell cancer | Enrichment | KIT | 1.68 |
| 265 | Cleidocranial dysplasia | Enrichment | RUNX2 | 1.68 |
| 266 | Bap1 tumor predisposition syndrome | Enrichment | BAP1 | 1.68 |
| 267 | Multiple epiphyseal dysplasia | Enrichment | COL2A1 | 1.68 |
| 268 | Kaposi sarcoma | Enrichment | IL6 | 1.56 |
| 269 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.56 |
| 270 | Microtia-anotia | Enrichment | BMP5 | 1.56 |
| 271 | Lipodystrophy, familial partial, type 3 | Enrichment | PPARG | 1.56 |
| 272 | Congenital generalized lipodystrophy | Enrichment | PPARG | 1.56 |
| 273 | Neonatal diabetes mellitus | Enrichment | INS | 1.56 |
| 274 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | KIT | 1.56 |
| 275 | Hereditary progressive cardiac conduction defect | Enrichment | NKX2-5 | 1.56 |
| 276 | Coronary artery anomaly | Enrichment | LPL | 1.56 |
| 277 | Mitral valve insufficiency | Enrichment | TBX5 | 1.56 |
| 278 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 1.56 |
| 279 | Primary hyperparathyroidism | Enrichment | PTH | 1.56 |
| 280 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 1.56 |
| 281 | Transposition of the great arteries | Enrichment | GATA4 | 1.56 |
| 282 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.56 |
| 283 | Leukemia, acute myeloid | Enrichment | CEBPA, KIT | 1.50 |
| 284 | Hyperlipidemia, familial combined, 3 | Enrichment | LPL | 1.46 |
| 285 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.46 |
| 286 | Retinal detachment | Enrichment | COL2A1 | 1.46 |
| 287 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.46 |
| 288 | Insulin-like growth factor i | Enrichment | IGF1 | 1.46 |
| 289 | Acute myeloid leukemia with maturation | Enrichment | KIT | 1.46 |
| 290 | Holoprosencephaly | Enrichment | FGF8 | 1.46 |
| 291 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.46 |
| 292 | Nonsyndromic 46,xx testicular disorders/differences of sex development | Enrichment | SOX9 | 1.46 |
| 293 | Cleft upper lip | Enrichment | GJA1 | 1.46 |
| 294 | Inherited acute myeloid leukemia | Enrichment | CEBPA | 1.46 |
| 295 | Persistent truncus arteriosus | Enrichment | NKX2-5 | 1.46 |
| 296 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | ENG | 1.46 |
| 297 | Familial cerebral saccular aneurysm | Enrichment | ENG | 1.46 |
| 298 | Nephrotic syndrome | Enrichment | FN1, RUNX2 | 1.44 |
| 299 | Spondyloepiphyseal dysplasia with congenital joint dislocations | Enrichment | ACAN | 1.38 |
| 300 | Developmental dysplasia of the hip 1 | Enrichment | COL2A1 | 1.38 |
| 301 | Melanoma, uveal | Enrichment | BAP1 | 1.38 |
| 302 | Myopathy, centronuclear, 1 | Enrichment | MYOD1 | 1.38 |
| 303 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | ENG | 1.38 |
| 304 | Conotruncal heart malformations | Enrichment | NKX2-5 | 1.38 |
| 305 | Pierre robin syndrome | Enrichment | SOX9 | 1.38 |
| 306 | Holoprosencephaly 1 | Enrichment | FGF8 | 1.38 |
| 307 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.38 |
| 308 | Testicular germ cell tumor | Enrichment | KIT | 1.38 |
| 309 | Anterior segment dysgenesis 5 | Enrichment | BMP4 | 1.38 |
| 310 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.38 |
| 311 | Clear cell renal cell carcinoma | Enrichment | BAP1 | 1.38 |
| 312 | Double outlet right ventricle | Enrichment | NKX2-5 | 1.38 |
| 313 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.38 |
| 314 | Waardenburg syndrome | Enrichment | PAX3 | 1.38 |
| 315 | Waardenburg syndrome, type 1 | Enrichment | PAX3 | 1.32 |
| 316 | Hypothyroidism, congenital, nongoitrous, 2 | Enrichment | NKX2-5 | 1.32 |
| 317 | Gastrointestinal stromal tumor | Enrichment | KIT | 1.32 |
| 318 | Multiple enchondromatosis, maffucci type | Enrichment | COL2A1 | 1.32 |
| 319 | Essential thrombocythemia | Enrichment | THPO | 1.32 |
| 320 | Hereditary hemorrhagic telangiectasia | Enrichment | ENG | 1.32 |
| 321 | Myofibrillar myopathy | Enrichment | DES | 1.32 |
| 322 | Melanocytic nevus syndrome, congenital | Enrichment | SOX5 | 1.26 |
| 323 | Glioma susceptibility 1 | Enrichment | BAP1 | 1.26 |
| 324 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1 | 1.26 |
| 325 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB | 1.26 |
| 326 | Ewing sarcoma | Enrichment | BAP1 | 1.26 |
| 327 | Permanent neonatal diabetes mellitus | Enrichment | INS | 1.26 |
| 328 | Isolated split hand-split foot malformation | Enrichment | WNT10B | 1.26 |
| 329 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FGF8, GATA4 | 1.23 |
| 330 | Orofacial cleft 1 | Enrichment | FGF10 | 1.21 |
| 331 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.21 |
| 332 | Adult hepatocellular carcinoma | Enrichment | EGF | 1.21 |
| 333 | Ventricular septal defect | Enrichment | TBX5 | 1.21 |
| 334 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MEF2C, PPARGC1A | 1.21 |
| 335 | Inherited cancer-predisposing syndrome | Enrichment | BAP1, CEBPA, KIT | 1.18 |
| 336 | Peters-plus syndrome | Enrichment | BMP4 | 1.17 |
| 337 | Autosomal non-syndromic agammaglobulinemia | Enrichment | CD79A | 1.17 |
| 338 | Meningioma, familial | Enrichment | PDGFB | 1.13 |
| 339 | 46,xy complete gonadal dysgenesis | Enrichment | SOX9 | 1.13 |
| 340 | Diabetes mellitus | Enrichment | INS | 1.13 |
| 341 | Heritable pulmonary arterial hypertension | Enrichment | ENG | 1.13 |
| 342 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4 | 1.09 |
| 343 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.09 |
| 344 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.09 |
| 345 | Lip and oral cavity carcinoma | Enrichment | KIT | 1.09 |
| 346 | Aortic valve disease 1 | Enrichment | NKX2-5 | 1.06 |
| 347 | Neural tube defects | Enrichment | ITGB1 | 1.06 |
| 348 | Pulmonary hypertension, primary, 1 | Enrichment | ENG | 1.06 |
| 349 | Chromosome 1p36 deletion syndrome | Enrichment | HSPG2 | 1.06 |
| 350 | Aortic aneurysm, familial thoracic 1 | Enrichment | GATA4 | 1.03 |
| 351 | Cleft lip/palate | Enrichment | BMP4 | 1.03 |
| 352 | Renal cell carcinoma, nonpapillary | Enrichment | BAP1 | 1.00 |
| 353 | Corpus callosum, agenesis of | Enrichment | CDH2 | 1.00 |
| 354 | Myopia | Enrichment | COL2A1 | 1.00 |
| 355 | Isolated corpus callosum agenesis | Enrichment | CDH2 | 1.00 |
| 356 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2 | 1.00 |
| 357 | Wolff-parkinson-white syndrome | Enrichment | TNNT2 | 0.97 |
| 358 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | DES | 0.97 |
| 359 | Gliosarcoma | Enrichment | PPARG | 0.97 |
| 360 | Melanoma, cutaneous malignant 1 | Enrichment | BAP1 | 0.95 |
| 361 | Sudden infant death syndrome | Enrichment | TNNI3 | 0.95 |
| 362 | Cardiomyopathy, dilated, 1e | Enrichment | DES | 0.95 |
| 363 | Giant cell glioblastoma | Enrichment | PPARG | 0.95 |
| 364 | Neuromuscular disease | Enrichment | DES | 0.92 |
| 365 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGF8 | 0.92 |
| 366 | Colorectal cancer | Enrichment | PPARG, SOX9 | 0.91 |
| 367 | Ehlers-danlos syndrome | Enrichment | TGFB2 | 0.90 |
| 368 | Macs syndrome | Enrichment | WNT7B | 0.88 |
| 369 | Maturity-onset diabetes of the young | Enrichment | INS | 0.88 |
| 370 | Microphthalmia | Enrichment | WNT7B | 0.84 |
| 371 | Tooth agenesis | Enrichment | WNT10B | 0.84 |
| 372 | Kallmann syndrome | Enrichment | FGF8 | 0.83 |
| 373 | Auditory neuropathy | Enrichment | CDH2 | 0.78 |
| 374 | Strabismus | Enrichment | SOX5 | 0.76 |
| 375 | Severe covid-19 | Enrichment | HLA-A | 0.73 |
| 376 | Differentiated thyroid carcinoma | Enrichment | PPARG | 0.73 |
| 377 | Long qt syndrome 1 | Enrichment | TBX5 | 0.72 |
| 378 | Stargardt disease 1 | Enrichment | COL2A1 | 0.72 |
| 379 | Lung cancer | Enrichment | ACTA2 | 0.70 |
| 380 | Cystic fibrosis | Enrichment | TGFB1 | 0.70 |
| 381 | Severe combined immunodeficiency | Enrichment | PTPRC | 0.68 |
| 382 | Fetal akinesia deformation sequence 1 | Enrichment | MYOD1 | 0.64 |
| 383 | Distal arthrogryposis | Enrichment | MYOD1 | 0.59 |
| 384 | Thrombocytopenia | Enrichment | THPO | 0.54 |
| 385 | Body mass index quantitative trait locus 11 | Enrichment | PPARG | 0.53 |
| 386 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CDH15 | 0.53 |
| 387 | Myeloma, multiple | Enrichment | BAP1 | 0.49 |
| 388 | Primary ovarian insufficiency | Enrichment | BMP6 | 0.47 |
| 389 | Rare genetic deafness | Enrichment | PAX3 | 0.37 |
| 390 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJA1 | 0.33 |
| 391 | Ovarian cancer | Enrichment | KIT | 0.29 |
| 392 | Autism spectrum disorder | Enrichment | MEF2C | 0.27 |
| 393 | Complex neurodevelopmental disorder | Enrichment | BAP1 | 0.23 |
| 394 | Hereditary retinal dystrophy | Enrichment | COL2A1, VCAN | 0.22 |
| 395 | Fundus dystrophy | Enrichment | COL2A1, VCAN | 0.22 |