| 1 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 | 10.79 |
| 2 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 | 10.76 |
| 3 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, SMAD3, TGFB2, TGFBR2 | 8.08 |
| 4 | Loeys-dietz syndrome 1 | Enrichment | SMAD2, TGFBR1, TGFBR2 | 7.25 |
| 5 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, TGFBR1 | 5.95 |
| 6 | Marfan syndrome | Enrichment | TGFB2, TGFBR1, TGFBR2 | 5.18 |
| 7 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 4.82 |
| 8 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 4.82 |
| 9 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 4.82 |
| 10 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 4.82 |
| 11 | Osteoporosis | Enrichment | COL1A1, COL1A2, SRC | 4.70 |
| 12 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 4.35 |
| 13 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 4.05 |
| 14 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1, MAP2K2 | 4.05 |
| 15 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1, MAP2K2 | 4.05 |
| 16 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 4.05 |
| 17 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 4.05 |
| 18 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2 | 3.65 |
| 19 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 3.65 |
| 20 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 3.51 |
| 21 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 3.51 |
| 22 | Colorectal cancer | Enrichment | AKT1, MET, SMAD4, SRC | 3.44 |
| 23 | Ovarian cancer | Enrichment | AKT1, CDKN1B, EGFR, MET | 3.19 |
| 24 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 3.18 |
| 25 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 3.09 |
| 26 | Lung non-small cell carcinoma | Enrichment | EGFR, MAP2K1 | 3.09 |
| 27 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 2.94 |
| 28 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 2.82 |
| 29 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K1, MAP2K2 | 2.82 |
| 30 | Inherited cancer-predisposing syndrome | Enrichment | CDKN1B, EGFR, MET, SMAD4 | 2.76 |
| 31 | Noonan syndrome 1 | Enrichment | MAP2K1, MAP2K2 | 2.44 |
| 32 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 2.44 |
| 33 | Proteus syndrome | Enrichment | AKT1 | 2.41 |
| 34 | Acrodermatitis enteropathica, zinc-deficiency type | Enrichment | SLC39A4 | 2.41 |
| 35 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.41 |
| 36 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.41 |
| 37 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.41 |
| 38 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.41 |
| 39 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.41 |
| 40 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.41 |
| 41 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.41 |
| 42 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.41 |
| 43 | Immunodeficiency 92 | Enrichment | REL | 2.41 |
| 44 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.41 |
| 45 | Acrodermatitis enteropathica | Enrichment | SLC39A4 | 2.41 |
| 46 | Osteofibrous dysplasia | Enrichment | MET | 2.41 |
| 47 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.41 |
| 48 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.41 |
| 49 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.41 |
| 50 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.41 |
| 51 | Melorheostosis | Enrichment | MAP2K1 | 2.41 |
| 52 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.41 |
| 53 | Autism 9 | Enrichment | MET | 2.41 |
| 54 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.41 |
| 55 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.41 |
| 56 | Hypogonadotropic hypogonadism 16 with or without anosmia | Enrichment | SEMA3A | 2.41 |
| 57 | Cowden syndrome 6 | Enrichment | AKT1 | 2.41 |
| 58 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.41 |
| 59 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.41 |
| 60 | Thrombocytopenia 6 | Enrichment | SRC | 2.41 |
| 61 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.41 |
| 62 | Immunodeficiency 53 | Enrichment | RELB | 2.41 |
| 63 | Tufted angioma of skin | Enrichment | KDR | 2.41 |
| 64 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.41 |
| 65 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.41 |
| 66 | Dworschak-punetha neurodevelopmental syndrome | Enrichment | PLXNA1 | 2.41 |
| 67 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.41 |
| 68 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.41 |
| 69 | Capillary hemangioma | Enrichment | AKT3 | 2.41 |
| 70 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.41 |
| 71 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.41 |
| 72 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.41 |
| 73 | Rasopathy | Enrichment | MAP2K1, MAP2K2 | 2.34 |
| 74 | Lung cancer | Enrichment | EGFR, MET | 2.16 |
| 75 | Connective tissue disease | Enrichment | SMAD3, TGFBR2 | 2.16 |
| 76 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.11 |
| 77 | Myhre syndrome | Enrichment | SMAD4 | 2.11 |
| 78 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.11 |
| 79 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.11 |
| 80 | Kyphomelic dysplasia | Enrichment | CCN2 | 2.11 |
| 81 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.11 |
| 82 | Piebald trait | Enrichment | SNAI2 | 2.11 |
| 83 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.11 |
| 84 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 2.11 |
| 85 | Sifrim-hitz-weiss syndrome | Enrichment | CHD2 | 2.11 |
| 86 | Angioma, tufted | Enrichment | KDR | 2.11 |
| 87 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.11 |
| 88 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 2.11 |
| 89 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.11 |
| 90 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.11 |
| 91 | Spondyloepimetaphyseal dysplasia, li-shao-li type | Enrichment | CCN2 | 2.11 |
| 92 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.11 |
| 93 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.11 |
| 94 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.11 |
| 95 | Childhood hepatocellular carcinoma | Enrichment | MET | 2.11 |
| 96 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.11 |
| 97 | Papillary renal cell carcinoma | Enrichment | MET | 2.11 |
| 98 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.11 |
| 99 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 2.11 |
| 100 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.11 |
| 101 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.11 |
| 102 | Metaphyseal anadysplasia | Enrichment | MMP9 | 2.11 |
| 103 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.11 |
| 104 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.11 |
| 105 | Tafro syndrome | Enrichment | MAP2K2 | 2.11 |
| 106 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.93 |
| 107 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.93 |
| 108 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.93 |
| 109 | Caffey disease | Enrichment | COL1A1 | 1.93 |
| 110 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.93 |
| 111 | Pilarowski-bjornsson syndrome | Enrichment | CHD1 | 1.93 |
| 112 | Developmental and epileptic encephalopathy 94 | Enrichment | CHD2 | 1.93 |
| 113 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.93 |
| 114 | Renal cell carcinoma | Enrichment | MET | 1.93 |
| 115 | Thrombocytopenia | Enrichment | SMAD4, SRC | 1.82 |
| 116 | Phenylketonuria | Enrichment | COL1A1 | 1.81 |
| 117 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.81 |
| 118 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3 | 1.81 |
| 119 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.81 |
| 120 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 1.81 |
| 121 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.81 |
| 122 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.81 |
| 123 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.71 |
| 124 | Pre-eclampsia | Enrichment | FLT1 | 1.71 |
| 125 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.71 |
| 126 | Hemimegalencephaly | Enrichment | AKT3 | 1.71 |
| 127 | Diffuse cutaneous systemic sclerosis | Enrichment | CCN2 | 1.71 |
| 128 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.71 |
| 129 | Familial cerebral saccular aneurysm | Enrichment | TGFBR3 | 1.71 |
| 130 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.63 |
| 131 | Cowden syndrome 1 | Enrichment | EGFR | 1.63 |
| 132 | Hemangioma, capillary infantile | Enrichment | KDR | 1.63 |
| 133 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.63 |
| 134 | Keratoconus | Enrichment | COL1A1 | 1.63 |
| 135 | Limited scleroderma | Enrichment | CCN2 | 1.63 |
| 136 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.63 |
| 137 | Breast adenocarcinoma | Enrichment | AKT1 | 1.63 |
| 138 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.63 |
| 139 | Esophageal cancer | Enrichment | TGFBR2 | 1.57 |
| 140 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.57 |
| 141 | Myelofibrosis | Enrichment | SRC | 1.57 |
| 142 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.57 |
| 143 | Waardenburg syndrome, type 2e | Enrichment | SNAI2 | 1.57 |
| 144 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.57 |
| 145 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 1.57 |
| 146 | Gallbladder cancer | Enrichment | SMAD4 | 1.57 |
| 147 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.57 |
| 148 | Megacolon | Enrichment | AKT3 | 1.57 |
| 149 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.51 |
| 150 | Lennox-gastaut syndrome | Enrichment | CHD2 | 1.51 |
| 151 | Myoclonic-atonic epilepsy | Enrichment | CHD2 | 1.46 |
| 152 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.46 |
| 153 | Arteriovenous malformation | Enrichment | MAP2K1 | 1.46 |
| 154 | Adult hepatocellular carcinoma | Enrichment | EGF | 1.46 |
| 155 | Cowden syndrome | Enrichment | AKT1 | 1.46 |
| 156 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.46 |
| 157 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1 | 1.42 |
| 158 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.42 |
| 159 | Polymicrogyria | Enrichment | AKT3 | 1.42 |
| 160 | Pectus excavatum | Enrichment | TGFBR1 | 1.38 |
| 161 | Specific learning disability | Enrichment | MAPK1 | 1.38 |
| 162 | Meningioma | Enrichment | AKT1 | 1.34 |
| 163 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.34 |
| 164 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.34 |
| 165 | Lip and oral cavity carcinoma | Enrichment | EGFR | 1.34 |
| 166 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF, MET | 1.33 |
| 167 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.27 |
| 168 | Lung cancer susceptibility 3 | Enrichment | EGFR | 1.27 |
| 169 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 1.27 |
| 170 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 1.24 |
| 171 | Lynch syndrome | Enrichment | TGFBR2 | 1.24 |
| 172 | Gliosarcoma | Enrichment | EGFR | 1.22 |
| 173 | Giant cell glioblastoma | Enrichment | EGFR | 1.19 |
| 174 | Autism spectrum disorder | Enrichment | CHD2, MAP2K1 | 1.17 |
| 175 | Heart, malformation of | Enrichment | MAPK1 | 1.17 |
| 176 | Arteriovenous malformations of the brain | Enrichment | EGFR | 1.14 |
| 177 | Hepatocellular carcinoma | Enrichment | MET | 1.08 |
| 178 | Complex neurodevelopmental disorder | Enrichment | CHD2, PLXNA1 | 1.07 |
| 179 | Kallmann syndrome | Enrichment | SEMA3A | 1.06 |
| 180 | Pancreatic cancer | Enrichment | SMAD4 | 1.03 |
| 181 | Tetralogy of fallot | Enrichment | KDR | 1.01 |
| 182 | Brugada syndrome | Enrichment | SEMA3A | 1.01 |
| 183 | Bladder cancer | Enrichment | EGFR | 0.97 |
| 184 | Cystic fibrosis | Enrichment | TGFB1 | 0.93 |
| 185 | Epilepsy | Enrichment | CHD2 | 0.84 |
| 186 | Benign epilepsy with centrotemporal spikes | Enrichment | CHD2 | 0.83 |
| 187 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.82 |
| 188 | Centralopathic epilepsy | Enrichment | CHD2 | 0.81 |
| 189 | Gastric cancer | Enrichment | SMAD4 | 0.81 |
| 190 | Hereditary breast carcinoma | Enrichment | AKT1 | 0.80 |
| 191 | Sensorineural hearing loss | Enrichment | HGF | 0.77 |
| 192 | Hypertelorism | Enrichment | COL1A1 | 0.73 |
| 193 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1 | 0.71 |
| 194 | Primary ovarian insufficiency | Enrichment | KDR | 0.68 |
| 195 | Breast cancer | Enrichment | AKT1 | 0.59 |
| 196 | Microcephaly | Enrichment | MAPK1 | 0.42 |