| 1 | Loeys-dietz syndrome | Enrichment | TGFB2, TGFBR1, TGFBR2 | 7.95 |
| 2 | Marfan syndrome | Enrichment | TGFB2, TGFBR1, TGFBR2 | 7.79 |
| 3 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 6.52 |
| 4 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2 | 6.45 |
| 5 | Loeys-dietz syndrome 1 | Enrichment | TGFBR1, TGFBR2 | 6.04 |
| 6 | Alzheimer disease 4 | Enrichment | PSEN1, PSEN2 | 5.75 |
| 7 | Early-onset autosomal dominant alzheimer disease | Enrichment | PSEN1, PSEN2 | 4.90 |
| 8 | Ehlers-danlos syndrome | Enrichment | SMAD3, TGFB2, TGFBR2 | 4.47 |
| 9 | Myopathy, centronuclear, 1 | Enrichment | MYF6, MYOD1 | 4.31 |
| 10 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 4.17 |
| 11 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 3.23 |
| 12 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 3.23 |
| 13 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 3.23 |
| 14 | Oculopharyngodistal myopathy 2 | Enrichment | GIPC1 | 3.23 |
| 15 | Familial isolated dilated cardiomyopathy | Enrichment | PSEN1, PSEN2 | 3.09 |
| 16 | Acne inversa, familial, 1 | Enrichment | NCSTN | 3.09 |
| 17 | Winchester syndrome | Enrichment | MMP14 | 3.09 |
| 18 | Cardiomyopathy, dilated, 1v | Enrichment | PSEN2 | 3.09 |
| 19 | Cardiomyopathy, dilated, 1u | Enrichment | PSEN1 | 3.09 |
| 20 | Acne inversa, familial, 2, with or without dowling-degos disease | Enrichment | PSENEN | 3.09 |
| 21 | Acne inversa, familial, 3 | Enrichment | PSEN1 | 3.09 |
| 22 | Pash syndrome | Enrichment | NCSTN | 3.09 |
| 23 | Huntington's disease-like | Enrichment | PSEN2 | 3.09 |
| 24 | Autism spectrum disorder | Enrichment | TCF12, TCF4, TNRC6B | 2.99 |
| 25 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.93 |
| 26 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 2.93 |
| 27 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.93 |
| 28 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.93 |
| 29 | Loeys-dietz syndrome 4 | Enrichment | TGFB2 | 2.93 |
| 30 | Complex neurodevelopmental disorder | Enrichment | AGO1, AGO2, TNRC6B | 2.83 |
| 31 | Alzheimer disease 3 | Enrichment | PSEN1 | 2.79 |
| 32 | Pick disease of brain | Enrichment | PSEN1 | 2.79 |
| 33 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | Enrichment | HELLS | 2.73 |
| 34 | Global developmental delay with speech and behavioral abnormalities | Enrichment | TNRC6B | 2.73 |
| 35 | Agammaglobulinemia 8b, autosomal recessive | Enrichment | TCF3 | 2.73 |
| 36 | Agammaglobulinemia 8a, autosomal dominant | Enrichment | TCF3 | 2.73 |
| 37 | Ophthalmoplegia, external, with rib and vertebral anomalies | Enrichment | MYF5 | 2.73 |
| 38 | Craniosynostosis 3 | Enrichment | TCF12 | 2.73 |
| 39 | Congenital myopathy 17 | Enrichment | MYOD1 | 2.73 |
| 40 | Corneal dystrophy, fuchs endothelial, 3 | Enrichment | TCF4 | 2.73 |
| 41 | Epilepsy, familial adult myoclonic, 6 | Enrichment | TNRC6A | 2.73 |
| 42 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.73 |
| 43 | Hypogonadotropic hypogonadism 26 with or without anosmia | Enrichment | TCF12 | 2.73 |
| 44 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP14 | 2.61 |
| 45 | Familial cerebral saccular aneurysm | Enrichment | TGFBR3 | 2.53 |
| 46 | Dowling-degos disease | Enrichment | PSENEN | 2.49 |
| 47 | Ovary adenocarcinoma | Enrichment | INHBA | 2.47 |
| 48 | Atrial septal defect 1 | Enrichment | TGFB2 | 2.45 |
| 49 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 2.45 |
| 50 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 2.45 |
| 51 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 2.45 |
| 52 | Myhre syndrome | Enrichment | SMAD4 | 2.43 |
| 53 | Premature ovarian failure 3 | Enrichment | AGO2 | 2.43 |
| 54 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.43 |
| 55 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.43 |
| 56 | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | Enrichment | AGO1 | 2.43 |
| 57 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.43 |
| 58 | Megalencephaly-polydactyly syndrome | Enrichment | MYCN | 2.43 |
| 59 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | Enrichment | TCF3 | 2.43 |
| 60 | Familial retinoblastoma | Enrichment | MYCN | 2.43 |
| 61 | B-lymphoblastic leukemia/lymphoma with t(17;19) | Enrichment | TCF3 | 2.43 |
| 62 | Dementia | Enrichment | PSEN1 | 2.39 |
| 63 | Esophageal cancer | Enrichment | TGFBR2 | 2.38 |
| 64 | Oculopharyngodistal myopathy 1 | Enrichment | GIPC1 | 2.38 |
| 65 | Myeloma, multiple | Enrichment | RXRA, TCF3 | 2.33 |
| 66 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | PSEN1 | 2.31 |
| 67 | Connective tissue disease | Enrichment | SMAD3, TGFBR2 | 2.28 |
| 68 | Retinoblastoma | Enrichment | MYCN | 2.26 |
| 69 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 2.26 |
| 70 | Lessel-kreienkamp syndrome | Enrichment | AGO2 | 2.26 |
| 71 | Semantic dementia | Enrichment | PSEN1 | 2.25 |
| 72 | Pectus excavatum | Enrichment | TGFBR1 | 2.19 |
| 73 | Progressive non-fluent aphasia | Enrichment | PSEN1 | 2.14 |
| 74 | Behavioral variant of frontotemporal dementia | Enrichment | PSEN1 | 2.14 |
| 75 | Pitt-hopkins syndrome | Enrichment | TCF4 | 2.13 |
| 76 | Non-syndromic bicoronal craniosynostosis | Enrichment | TCF12 | 2.13 |
| 77 | Lynch syndrome | Enrichment | TGFBR2 | 2.05 |
| 78 | Frontotemporal dementia 1 | Enrichment | PSEN1 | 2.05 |
| 79 | Feingold syndrome 1 | Enrichment | MYCN | 2.04 |
| 80 | Chondrosarcoma, extraskeletal myxoid | Enrichment | TCF12 | 2.04 |
| 81 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 2.04 |
| 82 | Cholangitis, primary sclerosing | Enrichment | TCF4 | 2.04 |
| 83 | Fuchs' endothelial dystrophy | Enrichment | TCF4 | 2.04 |
| 84 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 2.04 |
| 85 | Alzheimer's disease | Enrichment | PSEN1 | 1.98 |
| 86 | Rubinstein-taybi syndrome 1 | Enrichment | EP300 | 1.96 |
| 87 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | EP300 | 1.96 |
| 88 | Immunodeficiency-centromeric instability-facial anomalies syndrome | Enrichment | HELLS | 1.96 |
| 89 | Colorectal cancer | Enrichment | EP300, SMAD4 | 1.96 |
| 90 | Gallbladder cancer | Enrichment | SMAD4 | 1.89 |
| 91 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.89 |
| 92 | Alzheimer disease, familial, 1 | Enrichment | PSEN1 | 1.86 |
| 93 | Spastic paraplegia 4, autosomal dominant | Enrichment | TCF4 | 1.83 |
| 94 | Neuroblastoma | Enrichment | MYCN | 1.83 |
| 95 | Charge syndrome | Enrichment | EP300 | 1.78 |
| 96 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | TNRC6B | 1.78 |
| 97 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.78 |
| 98 | 2q23.1 microduplication syndrome | Enrichment | ACVR2A | 1.77 |
| 99 | Skin disease | Enrichment | NCSTN | 1.75 |
| 100 | Autosomal non-syndromic agammaglobulinemia | Enrichment | TCF3 | 1.74 |
| 101 | Cystic fibrosis | Enrichment | TGFB1 | 1.73 |
| 102 | Microcephaly | Enrichment | EP300, TCF4 | 1.67 |
| 103 | Epicanthus | Enrichment | TCF4 | 1.66 |
| 104 | Acute promyelocytic leukemia | Enrichment | RARA | 1.63 |
| 105 | Stereotypic movement disorder | Enrichment | TCF4 | 1.63 |
| 106 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.59 |
| 107 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.56 |
| 108 | Rare genetic intellectual disability | Enrichment | EP300 | 1.56 |
| 109 | Craniosynostosis | Enrichment | TCF12 | 1.44 |
| 110 | Scoliosis | Enrichment | MYF5 | 1.36 |
| 111 | Pancreatic cancer | Enrichment | SMAD4 | 1.35 |
| 112 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PSEN1 | 1.34 |
| 113 | Fetal akinesia deformation sequence 1 | Enrichment | MYOD1 | 1.18 |
| 114 | Distal arthrogryposis | Enrichment | MYOD1 | 1.13 |
| 115 | Gastric cancer | Enrichment | SMAD4 | 1.12 |
| 116 | Congenital nervous system abnormality | Enrichment | PSEN1 | 1.08 |
| 117 | Nervous system disease | Enrichment | PSEN1 | 1.08 |
| 118 | Thrombocytopenia | Enrichment | SMAD4 | 1.07 |
| 119 | Autosomal dominant non-syndromic intellectual disability | Enrichment | TCF4 | 1.05 |
| 120 | Inherited cancer-predisposing syndrome | Enrichment | SMAD4 | 0.66 |