| 1 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | FBN1, SKI, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 | 10.74 |
| 2 | Loeys-dietz syndrome | Enrichment | FBN1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 | 10.59 |
| 3 | Marfan syndrome | Enrichment | FBN1, LTBP2, TGFB2, TGFBR1, TGFBR2 | 8.45 |
| 4 | Loeys-dietz syndrome 1 | Enrichment | SMAD2, TGFBR1, TGFBR2 | 6.49 |
| 5 | Alzheimer disease 4 | Enrichment | PSEN1, PSEN2 | 6.49 |
| 6 | Aortic aneurysm | Enrichment | FBN1, SMAD3, TGFBR1 | 5.89 |
| 7 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 5.88 |
| 8 | Early-onset autosomal dominant alzheimer disease | Enrichment | PSEN1, PSEN2 | 5.64 |
| 9 | Heritable pulmonary arterial hypertension | Enrichment | ACVRL1, BMPR2, GDF2, SMAD9 | 5.26 |
| 10 | Ehlers-danlos syndrome | Enrichment | COL1A2, SMAD3, TGFB2, TGFBR2 | 5.11 |
| 11 | Acromicric dysplasia | Enrichment | FBN1, LTBP3 | 4.32 |
| 12 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 4.32 |
| 13 | Hereditary hemorrhagic telangiectasia | Enrichment | ACVRL1, GDF2, SMAD4 | 4.28 |
| 14 | Complex neurodevelopmental disorder | Enrichment | AGO1, AGO2, TNRC6B | 4.07 |
| 15 | Craniosynostosis 7 | Enrichment | BMP2, SMAD6 | 3.87 |
| 16 | Weill-marchesani syndrome 1 | Enrichment | FBN1, LTBP2 | 3.85 |
| 17 | Geleophysic dysplasia | Enrichment | FBN1, LTBP3 | 3.85 |
| 18 | Familial isolated dilated cardiomyopathy | Enrichment | PSEN1, PSEN2 | 3.83 |
| 19 | Weill-marchesani syndrome | Enrichment | FBN1, LTBP2 | 3.55 |
| 20 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1, WWTR1 | 3.55 |
| 21 | Ovary adenocarcinoma | Enrichment | INHBA | 3.53 |
| 22 | Cardiomyopathy, dilated, 1v | Enrichment | PSEN2 | 3.43 |
| 23 | Cardiomyopathy, dilated, 1u | Enrichment | PSEN1 | 3.43 |
| 24 | Acne inversa, familial, 2, with or without dowling-degos disease | Enrichment | PSENEN | 3.43 |
| 25 | Acne inversa, familial, 3 | Enrichment | PSEN1 | 3.43 |
| 26 | Huntington's disease-like | Enrichment | PSEN2 | 3.43 |
| 27 | Juvenile polyposis syndrome | Enrichment | BMPR1A, SMAD4 | 3.40 |
| 28 | Transposition of the great arteries, dextro-looped | Enrichment | ACVR1B, BMP2 | 3.40 |
| 29 | Pulmonary arterial hypertension associated with congenital heart disease | Enrichment | BMPR2, SMAD9 | 3.40 |
| 30 | Pulmonary hypertension, primary, 1 | Enrichment | ACVRL1, BMPR2, GDF2 | 3.39 |
| 31 | Pancreatic cancer | Enrichment | ACVR1B, SMAD4 | 3.36 |
| 32 | Goldberg-shprintzen syndrome | Enrichment | FBN1, SKI | 3.33 |
| 33 | Aortic aneurysm, familial thoracic 1 | Enrichment | FBN1, SMAD3, SMAD6 | 3.29 |
| 34 | Classic ehlers-danlos syndrome | Enrichment | COL1A2, TGFBR1 | 3.15 |
| 35 | Burkitt lymphoma | Enrichment | MYC | 3.13 |
| 36 | Alzheimer disease 3 | Enrichment | PSEN1 | 3.13 |
| 37 | Pick disease of brain | Enrichment | PSEN1 | 3.13 |
| 38 | Megalencephaly-polydactyly syndrome | Enrichment | MYCN | 3.13 |
| 39 | Familial retinoblastoma | Enrichment | MYCN | 3.13 |
| 40 | Global developmental delay with speech and behavioral abnormalities | Enrichment | TNRC6B | 3.13 |
| 41 | Epilepsy, familial adult myoclonic, 6 | Enrichment | TNRC6A | 3.13 |
| 42 | Brachydactyly, type a2 | Enrichment | BMP2, BMPR1B | 3.10 |
| 43 | Persistent mullerian duct syndrome, types i and ii | Enrichment | AMH, AMHR2 | 3.10 |
| 44 | Persistent mullerian duct syndrome | Enrichment | AMH, AMHR2 | 3.10 |
| 45 | Multiple endocrine neoplasia, type i | Enrichment | CDKN2B, MEN1 | 3.01 |
| 46 | Retinoblastoma | Enrichment | MYCN | 2.96 |
| 47 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 2.96 |
| 48 | Heart, malformation of | Enrichment | CDK8, MAPK1, SMAD6 | 2.95 |
| 49 | Orofacial cleft | Enrichment | FST | 2.93 |
| 50 | Orofacial clefting syndrome | Enrichment | FST | 2.93 |
| 51 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.93 |
| 52 | Retinitis pigmentosa 78 | Enrichment | ARHGEF18 | 2.93 |
| 53 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.93 |
| 54 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.93 |
| 55 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.93 |
| 56 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.90 |
| 57 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.90 |
| 58 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.90 |
| 59 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.90 |
| 60 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | BMPR1A, SMAD4 | 2.88 |
| 61 | Connective tissue disease | Enrichment | FBN1, SMAD3, TGFBR2 | 2.86 |
| 62 | Dowling-degos disease | Enrichment | PSENEN | 2.83 |
| 63 | 2q23.1 microduplication syndrome | Enrichment | ACVR2A | 2.83 |
| 64 | Familial cerebral saccular aneurysm | Enrichment | TGFBR3 | 2.83 |
| 65 | Premature ovarian failure 3 | Enrichment | AGO2 | 2.83 |
| 66 | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | Enrichment | AGO1 | 2.83 |
| 67 | Familial thoracic aortic aneurysm and dissection | Enrichment | FBN1, SMAD3 | 2.78 |
| 68 | Feingold syndrome 1 | Enrichment | MYCN | 2.73 |
| 69 | Dementia | Enrichment | PSEN1 | 2.73 |
| 70 | Atrial septal defect 1 | Enrichment | BMP2, TGFB2 | 2.71 |
| 71 | Myopathy, centronuclear, 1 | Enrichment | MYF6, MYOD1 | 2.71 |
| 72 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | ACVRL1, PSEN1 | 2.71 |
| 73 | Lessel-kreienkamp syndrome | Enrichment | AGO2 | 2.66 |
| 74 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.63 |
| 75 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 2.63 |
| 76 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.63 |
| 77 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.63 |
| 78 | Submucosal cleft palate | Enrichment | UBB | 2.63 |
| 79 | Cleft hard palate | Enrichment | UBB | 2.63 |
| 80 | Myhre syndrome | Enrichment | SMAD4 | 2.60 |
| 81 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.60 |
| 82 | Heterotaxy, visceral, 4, autosomal | Enrichment | ACVR2B | 2.60 |
| 83 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.60 |
| 84 | Pectus excavatum | Enrichment | FBN1, TGFBR1 | 2.60 |
| 85 | Semantic dementia | Enrichment | PSEN1 | 2.59 |
| 86 | Neuroblastoma | Enrichment | MYCN | 2.53 |
| 87 | Progressive non-fluent aphasia | Enrichment | PSEN1 | 2.48 |
| 88 | Behavioral variant of frontotemporal dementia | Enrichment | PSEN1 | 2.48 |
| 89 | Diaphragmatic hernia, congenital | Enrichment | CDK8, FBN1 | 2.45 |
| 90 | Neural tube defects | Enrichment | ITGB1, PARD3 | 2.45 |
| 91 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ, SKI | 2.45 |
| 92 | Uvula, bifid | Enrichment | UBB | 2.45 |
| 93 | Cleft soft palate | Enrichment | UBB | 2.45 |
| 94 | Frontotemporal dementia 1 | Enrichment | PSEN1 | 2.39 |
| 95 | Alzheimer's disease | Enrichment | PSEN1 | 2.32 |
| 96 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.30 |
| 97 | Alzheimer disease, familial, 1 | Enrichment | PSEN1 | 2.20 |
| 98 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | TNRC6B | 2.18 |
| 99 | Ectopia lentis 1, isolated, autosomal dominant | Enrichment | FBN1 | 2.16 |
| 100 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | Enrichment | LTBP2 | 2.16 |
| 101 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.16 |
| 102 | Intellectual developmental disorder, x-linked 99 | Enrichment | USP9X | 2.16 |
| 103 | Glaucoma 3, primary congenital, d | Enrichment | LTBP2 | 2.16 |
| 104 | Holoprosencephaly 4 | Enrichment | TGIF1 | 2.16 |
| 105 | Shprintzen-goldberg craniosynostosis syndrome | Enrichment | SKI | 2.16 |
| 106 | Weill-marchesani syndrome 2 | Enrichment | FBN1 | 2.16 |
| 107 | Geleophysic dysplasia 2 | Enrichment | FBN1 | 2.16 |
| 108 | Protrusio acetabuli | Enrichment | FBN1 | 2.16 |
| 109 | Weill-marchesani syndrome 3 | Enrichment | LTBP2 | 2.16 |
| 110 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.16 |
| 111 | Adrenal cortical adenoma | Enrichment | MEN1 | 2.16 |
| 112 | Lymphoplasmacytic lymphoma | Enrichment | FBN1 | 2.16 |
| 113 | Intellectual developmental disorder, x-linked 99, syndromic, female-restricted | Enrichment | USP9X | 2.16 |
| 114 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.16 |
| 115 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.16 |
| 116 | Geleophysic dysplasia 3 | Enrichment | LTBP3 | 2.16 |
| 117 | Immunodeficiency 31a | Enrichment | STAT1 | 2.16 |
| 118 | Colorectal cancer 3 | Enrichment | SMAD7 | 2.16 |
| 119 | Immunodeficiency 31b | Enrichment | STAT1 | 2.16 |
| 120 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.16 |
| 121 | Cutis laxa, autosomal recessive, type iie | Enrichment | LTBP1 | 2.16 |
| 122 | Noonan syndrome-like disorder with loose anagen hair 2 | Enrichment | PPP1CB | 2.16 |
| 123 | Intellectual developmental disorder with hypertelorism and distinctive facies | Enrichment | CCNK | 2.16 |
| 124 | Periventricular nodular heterotopia 7 | Enrichment | NEDD4L | 2.16 |
| 125 | Amelogenesis imperfecta, type ih | Enrichment | ITGB6 | 2.16 |
| 126 | Female-restricted syndromic x-linked intellectual disability 99 | Enrichment | USP9X | 2.16 |
| 127 | Glaucoma secondary to spherophakia/ectopia lentis and megalocornea | Enrichment | LTBP2 | 2.16 |
| 128 | Developmental dysplasia of the hip 4 | Enrichment | TRIM33 | 2.16 |
| 129 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.16 |
| 130 | Adrenal adenoma | Enrichment | MEN1 | 2.16 |
| 131 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.16 |
| 132 | Neonatal marfan syndrome | Enrichment | FBN1 | 2.16 |
| 133 | Dislocation of the hip-dysmorphism syndrome | Enrichment | TRIM33 | 2.16 |
| 134 | Hemihyperplasia, isolated | Enrichment | RHOA | 2.15 |
| 135 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 2.15 |
| 136 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 2.15 |
| 137 | Esophageal cancer | Enrichment | TGFBR2 | 2.08 |
| 138 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 2.07 |
| 139 | Gallbladder cancer | Enrichment | SMAD4 | 2.06 |
| 140 | Noonan syndrome 1 | Enrichment | CBL, PPP1CB | 1.96 |
| 141 | Stapes ankylosis with broad thumbs and toes | Enrichment | NOG | 1.93 |
| 142 | Tarsal-carpal coalition syndrome | Enrichment | NOG | 1.93 |
| 143 | Telangiectasia, hereditary hemorrhagic, type 2 | Enrichment | ACVRL1 | 1.93 |
| 144 | Polyposis syndrome, hereditary mixed, 2 | Enrichment | BMPR1A | 1.93 |
| 145 | Acromesomelic dysplasia 3 | Enrichment | BMPR1B | 1.93 |
| 146 | Brachydactyly, type b2 | Enrichment | NOG | 1.93 |
| 147 | Acne inversa, familial, 1 | Enrichment | NCSTN | 1.93 |
| 148 | Symphalangism, proximal, 1a | Enrichment | NOG | 1.93 |
| 149 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | Enrichment | HELLS | 1.93 |
| 150 | Multiple synostoses syndrome 1 | Enrichment | NOG | 1.93 |
| 151 | Brachydactyly, type a1, d | Enrichment | BMPR1B | 1.93 |
| 152 | Radioulnar synostosis, nonsyndromic | Enrichment | SMAD6 | 1.93 |
| 153 | Agammaglobulinemia 8b, autosomal recessive | Enrichment | TCF3 | 1.93 |
| 154 | Winchester syndrome | Enrichment | MMP14 | 1.93 |
| 155 | Tooth agenesis, selective, 9 | Enrichment | GREM2 | 1.93 |
| 156 | Agammaglobulinemia 8a, autosomal dominant | Enrichment | TCF3 | 1.93 |
| 157 | Ophthalmoplegia, external, with rib and vertebral anomalies | Enrichment | MYF5 | 1.93 |
| 158 | Oculopharyngodistal myopathy 2 | Enrichment | GIPC1 | 1.93 |
| 159 | Craniosynostosis 3 | Enrichment | TCF12 | 1.93 |
| 160 | Telangiectasia, hereditary hemorrhagic, type 5 | Enrichment | GDF2 | 1.93 |
| 161 | Pulmonary hypertension, primary, 2 | Enrichment | SMAD9 | 1.93 |
| 162 | Congenital myopathy 17 | Enrichment | MYOD1 | 1.93 |
| 163 | Corneal dystrophy, fuchs endothelial, 3 | Enrichment | TCF4 | 1.93 |
| 164 | 20p12.3 microdeletion syndrome | Enrichment | BMP2 | 1.93 |
| 165 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | Enrichment | BMP2 | 1.93 |
| 166 | Telangiectasis | Enrichment | ACVRL1 | 1.93 |
| 167 | Primary pulmonary hypertension | Enrichment | BMPR2 | 1.93 |
| 168 | Pulmonary hypertension | Enrichment | BMPR2 | 1.93 |
| 169 | Drug- or toxin-induced pulmonary arterial hypertension | Enrichment | BMPR2 | 1.93 |
| 170 | Hypogonadotropic hypogonadism 26 with or without anosmia | Enrichment | TCF12 | 1.93 |
| 171 | Pash syndrome | Enrichment | NCSTN | 1.93 |
| 172 | Isolated congenital megalocornea | Enrichment | CHRDL1 | 1.93 |
| 173 | Septopreoptic holoprosencephaly | Enrichment | FOXH1, TGIF1 | 1.89 |
| 174 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FOXH1, TGIF1 | 1.89 |
| 175 | Specific learning disability | Enrichment | MAPK1 | 1.86 |
| 176 | Bruck syndrome 1 | Enrichment | COL1A2 | 1.86 |
| 177 | Stiff skin syndrome | Enrichment | FBN1 | 1.86 |
| 178 | Ebstein anomaly | Enrichment | CDK8 | 1.86 |
| 179 | Ovarian germ cell cancer | Enrichment | CBL | 1.86 |
| 180 | Hyperparathyroidism 1 | Enrichment | MEN1 | 1.86 |
| 181 | Cutis laxa, autosomal recessive, type ic | Enrichment | LTBP4 | 1.86 |
| 182 | Beaulieu-boycott-innes syndrome | Enrichment | FBN1 | 1.86 |
| 183 | Immunodeficiency 31c | Enrichment | STAT1 | 1.86 |
| 184 | Spinocerebellar ataxia 48 | Enrichment | STUB1 | 1.86 |
| 185 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A2 | 1.86 |
| 186 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 1.86 |
| 187 | Noonan syndrome-like disorder with loose anagen hair | Enrichment | PPP1CB | 1.86 |
| 188 | Aortic dissection | Enrichment | FBN1 | 1.86 |
| 189 | Marfanoid-progeroid-lipodystrophy syndrome | Enrichment | FBN1 | 1.86 |
| 190 | Medullary thyroid carcinoma | Enrichment | MEN1 | 1.86 |
| 191 | Insulinoma | Enrichment | MEN1 | 1.86 |
| 192 | Intellectual developmental disorder with hypotonia and behavioral abnormalities | Enrichment | CDK8 | 1.86 |
| 193 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A2 | 1.86 |
| 194 | Malignant germ cell tumor of ovary | Enrichment | CBL | 1.86 |
| 195 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 1.86 |
| 196 | Primary mediastinal large b-cell lymphoma | Enrichment | XPO1 | 1.86 |
| 197 | Lens subluxation | Enrichment | FBN1 | 1.86 |
| 198 | Null pituitary adenoma | Enrichment | MEN1 | 1.86 |
| 199 | Silent pituitary adenoma | Enrichment | MEN1 | 1.86 |
| 200 | Gigantism | Enrichment | MEN1 | 1.86 |
| 201 | Rasopathy | Enrichment | CBL, PPP1CB | 1.86 |
| 202 | Microform holoprosencephaly | Enrichment | FOXH1, TGIF1 | 1.84 |
| 203 | Lobar holoprosencephaly | Enrichment | FOXH1, TGIF1 | 1.84 |
| 204 | Alobar holoprosencephaly | Enrichment | FOXH1, TGIF1 | 1.79 |
| 205 | Lynch syndrome | Enrichment | TGFBR2 | 1.76 |
| 206 | Semilobar holoprosencephaly | Enrichment | FOXH1, TGIF1 | 1.74 |
| 207 | Thrombocytopenia | Enrichment | ACVRL1, ITGB3, SMAD4 | 1.74 |
| 208 | Contractural arachnodactyly, congenital | Enrichment | FBN1 | 1.69 |
| 209 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.69 |
| 210 | Achondroplasia | Enrichment | FBN1 | 1.69 |
| 211 | Mccune-albright syndrome | Enrichment | FBN1 | 1.69 |
| 212 | Exfoliation syndrome | Enrichment | LTBP2 | 1.69 |
| 213 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.69 |
| 214 | Muscular dystrophy, duchenne type | Enrichment | LTBP4 | 1.69 |
| 215 | Chromosome 5q14.3 deletion syndrome, distal | Enrichment | NEDD4L | 1.69 |
| 216 | Pituitary adenoma 1, multiple types | Enrichment | MEN1 | 1.69 |
| 217 | Autosomal recessive cutis laxa type i | Enrichment | LTBP1 | 1.69 |
| 218 | Isolated ectopia lentis | Enrichment | FBN1 | 1.69 |
| 219 | Cellular ependymoma | Enrichment | MEN1 | 1.69 |
| 220 | Tanycytic ependymoma | Enrichment | MEN1 | 1.69 |
| 221 | Papillary ependymoma | Enrichment | MEN1 | 1.69 |
| 222 | Parathyroid adenoma | Enrichment | MEN1 | 1.69 |
| 223 | Growth hormone secreting pituitary adenoma | Enrichment | MEN1 | 1.69 |
| 224 | Aip familial isolated pituitary adenomas | Enrichment | MEN1 | 1.69 |
| 225 | Familial isolated hyperparathyroidism | Enrichment | MEN1 | 1.69 |
| 226 | High bone mass osteogenesis imperfecta | Enrichment | COL1A2 | 1.69 |
| 227 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.69 |
| 228 | Clear cell ependymoma | Enrichment | MEN1 | 1.69 |
| 229 | Alopecia - intellectual disability syndrome | Enrichment | ITGB6 | 1.69 |
| 230 | Hyperpigmentation of the skin | Enrichment | USP9X | 1.69 |
| 231 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PSEN1 | 1.67 |
| 232 | Craniosynostosis | Enrichment | SMAD6, TCF12 | 1.65 |
| 233 | Pulmonary venoocclusive disease 1, autosomal dominant | Enrichment | BMPR2 | 1.64 |
| 234 | Fibrodysplasia ossificans progressiva | Enrichment | BMPR2 | 1.64 |
| 235 | Pulmonary venoocclusive disease 1 | Enrichment | BMPR2 | 1.64 |
| 236 | Aortic valve disease 2 | Enrichment | SMAD6 | 1.64 |
| 237 | Proximal symphalangism | Enrichment | NOG | 1.64 |
| 238 | Hereditary mixed polyposis syndrome | Enrichment | BMPR1A | 1.64 |
| 239 | Radioulnar synostosis | Enrichment | SMAD6 | 1.64 |
| 240 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | Enrichment | TCF3 | 1.64 |
| 241 | Pulmonary venoocclusive disease | Enrichment | BMPR2 | 1.64 |
| 242 | B-lymphoblastic leukemia/lymphoma with t(17;19) | Enrichment | TCF3 | 1.64 |
| 243 | Juvenile polyposis of infancy | Enrichment | BMPR1A | 1.64 |
| 244 | Idiopathic/heritable pulmonary arterial hypertension | Enrichment | BMPR2 | 1.64 |
| 245 | Visceral heterotaxy | Enrichment | ACVR2B | 1.56 |
| 246 | Myeloma, multiple | Enrichment | NCOR2, RXRA, TCF3 | 1.56 |
| 247 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A2 | 1.56 |
| 248 | Amelogenesis imperfecta, type iiia | Enrichment | ITGB6 | 1.56 |
| 249 | Glaucoma 3, primary infantile, b | Enrichment | LTBP2 | 1.56 |
| 250 | Malignant epithelioid hemangioendothelioma | Enrichment | WWTR1 | 1.56 |
| 251 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL | 1.56 |
| 252 | Prolactinoma | Enrichment | MEN1 | 1.56 |
| 253 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A2 | 1.56 |
| 254 | Mitral valve insufficiency | Enrichment | FBN1 | 1.56 |
| 255 | Primary hyperparathyroidism | Enrichment | MEN1 | 1.56 |
| 256 | Benign ependymoma | Enrichment | MEN1 | 1.56 |
| 257 | Scoliosis | Enrichment | FBN1, MYF5 | 1.50 |
| 258 | Polycystic liver disease 1 with or without kidney cysts | Enrichment | FBN1 | 1.47 |
| 259 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.47 |
| 260 | Arthrogryposis, renal dysfunction, and cholestasis 1 | Enrichment | FBN1 | 1.47 |
| 261 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.47 |
| 262 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.47 |
| 263 | Polycystic liver disease 1 | Enrichment | FBN1 | 1.47 |
| 264 | Myeloproliferative neoplasm | Enrichment | CBL | 1.47 |
| 265 | Juvenile glaucoma | Enrichment | LTBP2 | 1.47 |
| 266 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.47 |
| 267 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.47 |
| 268 | Brachydactyly, type a1 | Enrichment | BMPR1B | 1.46 |
| 269 | Brachydactyly, type c | Enrichment | BMPR1B | 1.46 |
| 270 | Acromesomelic dysplasia 2a | Enrichment | BMPR1B | 1.46 |
| 271 | Acromesomelic dysplasia 2c | Enrichment | BMPR1B | 1.46 |
| 272 | Megalocornea | Enrichment | CHRDL1 | 1.46 |
| 273 | Acromesomelic dysplasia 2b | Enrichment | BMPR1B | 1.46 |
| 274 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP14 | 1.46 |
| 275 | Cystic fibrosis | Enrichment | TGFB1 | 1.43 |
| 276 | Congenital nervous system abnormality | Enrichment | PSEN1 | 1.41 |
| 277 | Nervous system disease | Enrichment | PSEN1 | 1.41 |
| 278 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A2 | 1.39 |
| 279 | Glaucoma, primary open angle | Enrichment | LTBP2 | 1.39 |
| 280 | Developmental dysplasia of the hip 1 | Enrichment | TRIM33 | 1.39 |
| 281 | Osteogenesis imperfecta, type i | Enrichment | COL1A2 | 1.39 |
| 282 | Rubinstein-taybi syndrome 1 | Enrichment | EP300 | 1.39 |
| 283 | Dental anomalies and short stature | Enrichment | LTBP3 | 1.39 |
| 284 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | EP300 | 1.39 |
| 285 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | STUB1 | 1.39 |
| 286 | Inguinal hernia | Enrichment | FBN1 | 1.39 |
| 287 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.39 |
| 288 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.39 |
| 289 | Hemophilia a | Enrichment | ACVRL1 | 1.34 |
| 290 | Pitt-hopkins syndrome | Enrichment | TCF4 | 1.34 |
| 291 | Factor viii deficiency | Enrichment | ACVRL1 | 1.34 |
| 292 | Multiple synostoses syndrome | Enrichment | NOG | 1.34 |
| 293 | Non-syndromic bicoronal craniosynostosis | Enrichment | TCF12 | 1.34 |
| 294 | Osteogenesis imperfecta, type ii | Enrichment | COL1A2 | 1.32 |
| 295 | Glaucoma 3, primary congenital, a | Enrichment | LTBP2 | 1.32 |
| 296 | Brugada syndrome 1 | Enrichment | FBN1 | 1.32 |
| 297 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.32 |
| 298 | Gastrointestinal stromal tumor | Enrichment | MEN1 | 1.32 |
| 299 | Gastric cancer | Enrichment | SMAD4 | 1.28 |
| 300 | Renal hypodysplasia/aplasia 1 | Enrichment | ITGA8 | 1.27 |
| 301 | Orthostatic intolerance | Enrichment | FBN1 | 1.27 |
| 302 | Chondrosarcoma, extraskeletal myxoid | Enrichment | TCF12 | 1.24 |
| 303 | Ventricular septal defect 1 | Enrichment | BMP2 | 1.24 |
| 304 | Cholangitis, primary sclerosing | Enrichment | TCF4 | 1.24 |
| 305 | Fuchs' endothelial dystrophy | Enrichment | TCF4 | 1.24 |
| 306 | Charge syndrome | Enrichment | EP300 | 1.22 |
| 307 | Renal agenesis, bilateral | Enrichment | ITGA8 | 1.22 |
| 308 | Amelogenesis imperfecta, type ie | Enrichment | ITGB6 | 1.17 |
| 309 | Stroke, ischemic | Enrichment | FBN1 | 1.17 |
| 310 | Melanoma | Enrichment | FBN1 | 1.17 |
| 311 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.17 |
| 312 | Primary bone dysplasia | Enrichment | COL1A2 | 1.17 |
| 313 | Immunodeficiency-centromeric instability-facial anomalies syndrome | Enrichment | HELLS | 1.17 |
| 314 | Osteochondrodysplasia | Enrichment | COL1A2 | 1.13 |
| 315 | Diabetes mellitus | Enrichment | MEN1 | 1.13 |
| 316 | Autism spectrum disorder | Enrichment | TNRC6B | 1.11 |
| 317 | Oculopharyngodistal myopathy 1 | Enrichment | GIPC1 | 1.10 |
| 318 | Juvenile myelomonocytic leukemia | Enrichment | CBL | 1.10 |
| 319 | Cutis laxa | Enrichment | LTBP4 | 1.10 |
| 320 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.10 |
| 321 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.10 |
| 322 | Osteogenesis imperfecta, type iv | Enrichment | COL1A2 | 1.06 |
| 323 | Amelogenesis imperfecta | Enrichment | LTBP3 | 1.06 |
| 324 | Spastic paraplegia 4, autosomal dominant | Enrichment | TCF4 | 1.05 |
| 325 | Hemochromatosis, type 1 | Enrichment | BMP2 | 1.05 |
| 326 | Osteoporosis | Enrichment | COL1A2 | 1.03 |
| 327 | Periventricular nodular heterotopia | Enrichment | NEDD4L | 1.03 |
| 328 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 1.03 |
| 329 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.00 |
| 330 | Osteogenesis imperfecta, type iii | Enrichment | COL1A2 | 1.00 |
| 331 | Myopia | Enrichment | FBN1 | 1.00 |
| 332 | Rare genetic intellectual disability | Enrichment | EP300 | 1.00 |
| 333 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL | 1.00 |
| 334 | Tooth agenesis, selective, 1 | Enrichment | BMPR2 | 1.00 |
| 335 | Polydactyly | Enrichment | SMAD6 | 1.00 |
| 336 | Colorectal cancer | Enrichment | SMAD4 | 0.98 |
| 337 | Hydrocephalus, congenital, 1 | Enrichment | CDK8 | 0.98 |
| 338 | Perrault syndrome 1 | Enrichment | FBN1 | 0.98 |
| 339 | Hypertension | Enrichment | MEN1 | 0.98 |
| 340 | Rhabdomyosarcoma | Enrichment | CBL | 0.98 |
| 341 | Autosomal non-syndromic agammaglobulinemia | Enrichment | TCF3 | 0.96 |
| 342 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2B | 0.95 |
| 343 | Dandy-walker syndrome | Enrichment | PPP1CB | 0.95 |
| 344 | Familial colorectal cancer type x | Enrichment | BMPR1A | 0.92 |
| 345 | Epicanthus | Enrichment | TCF4 | 0.88 |
| 346 | Aortic valve disease 1 | Enrichment | SMAD6 | 0.85 |
| 347 | Acute promyelocytic leukemia | Enrichment | RARA | 0.85 |
| 348 | Stereotypic movement disorder | Enrichment | TCF4 | 0.85 |
| 349 | Myocardial infarction | Enrichment | ITGB3 | 0.85 |
| 350 | Microcephaly | Enrichment | MAPK1 | 0.84 |
| 351 | Brittle bone disorder | Enrichment | COL1A2 | 0.83 |
| 352 | Inherited cancer-predisposing syndrome | Enrichment | SMAD4 | 0.81 |
| 353 | Severe covid-19 | Enrichment | ITGAV | 0.74 |
| 354 | Differentiated thyroid carcinoma | Enrichment | TRIM33 | 0.74 |
| 355 | Arteriovenous malformations of the brain | Enrichment | ZFYVE16 | 0.70 |
| 356 | Non-syndromic x-linked intellectual disability | Enrichment | USP9X | 0.65 |
| 357 | Retinitis pigmentosa | Enrichment | ARHGEF18 | 0.65 |
| 358 | Tooth agenesis | Enrichment | GREM2 | 0.64 |
| 359 | Skin disease | Enrichment | NCSTN | 0.64 |
| 360 | Myopathy | Enrichment | FBN1 | 0.61 |
| 361 | Hereditary retinal dystrophy | Enrichment | ARHGEF18 | 0.53 |
| 362 | Fundus dystrophy | Enrichment | ARHGEF18 | 0.53 |
| 363 | Hereditary breast ovarian cancer syndrome | Enrichment | MEN1 | 0.50 |
| 364 | Fetal akinesia deformation sequence 1 | Enrichment | MYOD1 | 0.45 |
| 365 | Distal arthrogryposis | Enrichment | MYOD1 | 0.41 |
| 366 | Breast cancer | Enrichment | CDKN2B | 0.39 |
| 367 | Dilated cardiomyopathy | Enrichment | FBN1 | 0.37 |
| 368 | Autosomal dominant non-syndromic intellectual disability | Enrichment | TCF4 | 0.35 |
| 369 | Ovarian cancer | Enrichment | BMPR1A | 0.16 |