| 1 | Loeys-dietz syndrome | Enrichment | FBN1, SMAD2, SMAD3, TGFBR1, TGFBR2 | 9.73 |
| 2 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | FBN1, SKI, SMAD2, SMAD3, SMAD4, TGFBR1, TGFBR2 | 9.16 |
| 3 | Loeys-dietz syndrome 1 | Enrichment | SMAD2, TGFBR1, TGFBR2 | 7.20 |
| 4 | Geleophysic dysplasia | Enrichment | ADAMTSL2, FBN1, LTBP3 | 7.11 |
| 5 | Aortic aneurysm | Enrichment | FBN1, SMAD3, TGFBR1 | 6.51 |
| 6 | Marfan syndrome | Enrichment | FBN1, TGFBR1, TGFBR2 | 5.04 |
| 7 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 4.79 |
| 8 | Acromicric dysplasia | Enrichment | FBN1, LTBP3 | 4.73 |
| 9 | Aortic aneurysm, familial thoracic 1 | Enrichment | FBN1, SMAD3, SMAD6 | 4.56 |
| 10 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, STAT3 | 4.32 |
| 11 | Weill-marchesani syndrome 1 | Enrichment | ADAMTS10, FBN1 | 4.25 |
| 12 | Weill-marchesani syndrome | Enrichment | ADAMTS10, FBN1 | 3.95 |
| 13 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | ENG, SMAD4 | 3.80 |
| 14 | Familial cerebral saccular aneurysm | Enrichment | ENG, TGFBR3 | 3.80 |
| 15 | Goldberg-shprintzen syndrome | Enrichment | FBN1, SKI | 3.73 |
| 16 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 3.62 |
| 17 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 3.62 |
| 18 | Gallbladder cancer | Enrichment | CTNNB1, SMAD4 | 3.48 |
| 19 | Hereditary hemorrhagic telangiectasia | Enrichment | ENG, SMAD4 | 3.48 |
| 20 | Connective tissue disease | Enrichment | FBN1, SMAD3, TGFBR2 | 3.45 |
| 21 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, ZEB2 | 3.35 |
| 22 | Systemic lupus erythematosus | Enrichment | ENG, SPP1, TNF | 3.28 |
| 23 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, EGF | 3.24 |
| 24 | Familial thoracic aortic aneurysm and dissection | Enrichment | FBN1, SMAD3 | 3.18 |
| 25 | Heritable pulmonary arterial hypertension | Enrichment | ENG, SMAD9 | 3.06 |
| 26 | Pectus excavatum | Enrichment | FBN1, TGFBR1 | 3.00 |
| 27 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300 | 2.79 |
| 28 | Septopreoptic holoprosencephaly | Enrichment | FOXH1, TGIF1 | 2.79 |
| 29 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FOXH1, TGIF1 | 2.79 |
| 30 | Microform holoprosencephaly | Enrichment | FOXH1, TGIF1 | 2.73 |
| 31 | Lobar holoprosencephaly | Enrichment | FOXH1, TGIF1 | 2.73 |
| 32 | Alobar holoprosencephaly | Enrichment | FOXH1, TGIF1 | 2.68 |
| 33 | Semilobar holoprosencephaly | Enrichment | FOXH1, TGIF1 | 2.63 |
| 34 | Diffuse large b-cell lymphoma | Enrichment | CREBBP, STAT3 | 2.58 |
| 35 | Ehlers-danlos syndrome | Enrichment | SMAD3, TGFBR2 | 2.58 |
| 36 | Stapes ankylosis with broad thumbs and toes | Enrichment | NOG | 2.39 |
| 37 | Tarsal-carpal coalition syndrome | Enrichment | NOG | 2.39 |
| 38 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.39 |
| 39 | Brachydactyly, type b2 | Enrichment | NOG | 2.39 |
| 40 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.39 |
| 41 | Holoprosencephaly 4 | Enrichment | TGIF1 | 2.39 |
| 42 | Symphalangism, proximal, 1a | Enrichment | NOG | 2.39 |
| 43 | Shprintzen-goldberg craniosynostosis syndrome | Enrichment | SKI | 2.39 |
| 44 | Multiple synostoses syndrome 1 | Enrichment | NOG | 2.39 |
| 45 | Radioulnar synostosis, nonsyndromic | Enrichment | SMAD6 | 2.39 |
| 46 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.39 |
| 47 | Immunodeficiency 69 | Enrichment | IFNG | 2.39 |
| 48 | Renal cell carcinoma, xp11-associated | Enrichment | TFE3 | 2.39 |
| 49 | Intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies | Enrichment | TFE3 | 2.39 |
| 50 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.39 |
| 51 | Orofacial cleft 11 | Enrichment | BMP4 | 2.39 |
| 52 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.39 |
| 53 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.39 |
| 54 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.39 |
| 55 | Ovary adenocarcinoma | Enrichment | INHBA | 2.39 |
| 56 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.39 |
| 57 | Immunodeficiency 31a | Enrichment | STAT1 | 2.39 |
| 58 | Nephronophthisis 14 | Enrichment | ZNF423 | 2.39 |
| 59 | Pulmonary hypertension, primary, 2 | Enrichment | SMAD9 | 2.39 |
| 60 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.39 |
| 61 | Colorectal cancer 3 | Enrichment | SMAD7 | 2.39 |
| 62 | Immunodeficiency 31b | Enrichment | STAT1 | 2.39 |
| 63 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.39 |
| 64 | Cutis laxa, autosomal recessive, type iie | Enrichment | LTBP1 | 2.39 |
| 65 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.39 |
| 66 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.39 |
| 67 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.39 |
| 68 | Amelogenesis imperfecta, type ih | Enrichment | ITGB6 | 2.39 |
| 69 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.39 |
| 70 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.39 |
| 71 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.39 |
| 72 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.39 |
| 73 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.39 |
| 74 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.39 |
| 75 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.39 |
| 76 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.39 |
| 77 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.39 |
| 78 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.39 |
| 79 | Ectopia lentis 1, isolated, autosomal dominant | Enrichment | FBN1 | 2.36 |
| 80 | Geleophysic dysplasia 1 | Enrichment | ADAMTSL2 | 2.36 |
| 81 | Lethal short-limb skeletal dysplasia, al gazali type | Enrichment | ADAMTSL2 | 2.36 |
| 82 | Weill-marchesani syndrome 2 | Enrichment | FBN1 | 2.36 |
| 83 | Geleophysic dysplasia 2 | Enrichment | FBN1 | 2.36 |
| 84 | Protrusio acetabuli | Enrichment | FBN1 | 2.36 |
| 85 | Lymphoplasmacytic lymphoma | Enrichment | FBN1 | 2.36 |
| 86 | Geleophysic dysplasia 3 | Enrichment | LTBP3 | 2.36 |
| 87 | Neonatal marfan syndrome | Enrichment | FBN1 | 2.36 |
| 88 | Scoliosis | Enrichment | CREBBP, FBN1 | 2.32 |
| 89 | Colorectal cancer | Enrichment | CTNNB1, EP300, SMAD4 | 2.28 |
| 90 | Bladder cancer | Enrichment | CTNNB1, HRAS | 2.21 |
| 91 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 2.09 |
| 92 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 2.09 |
| 93 | Myhre syndrome | Enrichment | SMAD4 | 2.09 |
| 94 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.09 |
| 95 | Costello syndrome | Enrichment | HRAS | 2.09 |
| 96 | Thumb deformity | Enrichment | CREBBP | 2.09 |
| 97 | Mowat-wilson syndrome | Enrichment | ZEB2 | 2.09 |
| 98 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.09 |
| 99 | Alveolar soft part sarcoma | Enrichment | TFE3 | 2.09 |
| 100 | Pulmonary arteriovenous fistulas | Enrichment | ENG | 2.09 |
| 101 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.09 |
| 102 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 2.09 |
| 103 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 2.09 |
| 104 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.09 |
| 105 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.09 |
| 106 | Immunodeficiency 31c | Enrichment | STAT1 | 2.09 |
| 107 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.09 |
| 108 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.09 |
| 109 | Immunodeficiency 127 | Enrichment | TNF | 2.09 |
| 110 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.09 |
| 111 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.09 |
| 112 | Split hand-foot malformation | Enrichment | LEF1 | 2.09 |
| 113 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.09 |
| 114 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.09 |
| 115 | Aortic valve disease 2 | Enrichment | SMAD6 | 2.09 |
| 116 | Proximal symphalangism | Enrichment | NOG | 2.09 |
| 117 | Craniosynostosis 7 | Enrichment | SMAD6 | 2.09 |
| 118 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.09 |
| 119 | Radioulnar synostosis | Enrichment | SMAD6 | 2.09 |
| 120 | Teratoma | Enrichment | CTNNB1 | 2.09 |
| 121 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.09 |
| 122 | Wooly hair nevus | Enrichment | HRAS | 2.09 |
| 123 | Stiff skin syndrome | Enrichment | FBN1 | 2.06 |
| 124 | Ehlers-danlos syndrome, dermatosparaxis type | Enrichment | ADAMTSL2 | 2.06 |
| 125 | Beaulieu-boycott-innes syndrome | Enrichment | FBN1 | 2.06 |
| 126 | Aortic dissection | Enrichment | FBN1 | 2.06 |
| 127 | Marfanoid-progeroid-lipodystrophy syndrome | Enrichment | FBN1 | 2.06 |
| 128 | Lens subluxation | Enrichment | FBN1 | 2.06 |
| 129 | Congenital nervous system abnormality | Enrichment | CREBBP, CTNNB1, ZEB2 | 2.04 |
| 130 | Nervous system disease | Enrichment | CREBBP, CTNNB1, ZEB2 | 2.04 |
| 131 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 1.92 |
| 132 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.92 |
| 133 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.92 |
| 134 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.92 |
| 135 | Tuberous sclerosis 1 | Enrichment | IFNG | 1.92 |
| 136 | Osteoporosis, juvenile | Enrichment | WNT1 | 1.92 |
| 137 | Psoriatic arthritis | Enrichment | TNF | 1.92 |
| 138 | Hepatitis c virus | Enrichment | IFNG | 1.92 |
| 139 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.92 |
| 140 | Tuberous sclerosis 2 | Enrichment | IFNG | 1.92 |
| 141 | Anus, imperforate | Enrichment | CTNNB1 | 1.92 |
| 142 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.92 |
| 143 | Tethered spinal cord syndrome | Enrichment | CREBBP | 1.92 |
| 144 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.92 |
| 145 | Autosomal recessive cutis laxa type i | Enrichment | LTBP1 | 1.92 |
| 146 | Desmoid tumor | Enrichment | CTNNB1 | 1.92 |
| 147 | Hyper ige syndrome | Enrichment | STAT3 | 1.92 |
| 148 | Cleidocranial dysplasia | Enrichment | RUNX2 | 1.92 |
| 149 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 1.92 |
| 150 | Migraine without aura | Enrichment | TNF | 1.92 |
| 151 | Spermatocytoma | Enrichment | HRAS | 1.92 |
| 152 | Alopecia - intellectual disability syndrome | Enrichment | ITGB6 | 1.92 |
| 153 | Renal cell carcinoma | Enrichment | TFE3 | 1.92 |
| 154 | Pulmonary arterial hypertension associated with congenital heart disease | Enrichment | SMAD9 | 1.92 |
| 155 | Contractural arachnodactyly, congenital | Enrichment | FBN1 | 1.89 |
| 156 | Achondroplasia | Enrichment | FBN1 | 1.89 |
| 157 | Mccune-albright syndrome | Enrichment | FBN1 | 1.89 |
| 158 | Isolated ectopia lentis | Enrichment | FBN1 | 1.89 |
| 159 | Amelogenesis imperfecta, type iiia | Enrichment | ITGB6 | 1.79 |
| 160 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.79 |
| 161 | Pilomatrixoma | Enrichment | CTNNB1 | 1.79 |
| 162 | Alazami syndrome | Enrichment | CTNNB1 | 1.79 |
| 163 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.79 |
| 164 | Multiple synostoses syndrome | Enrichment | NOG | 1.79 |
| 165 | Malignant epithelioid hemangioendothelioma | Enrichment | TFE3 | 1.79 |
| 166 | Orofacial cleft | Enrichment | FST | 1.79 |
| 167 | Craniopharyngioma | Enrichment | CTNNB1 | 1.79 |
| 168 | Epidermolytic nevus | Enrichment | HRAS | 1.79 |
| 169 | Cerebral malaria | Enrichment | TNF | 1.79 |
| 170 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 1.79 |
| 171 | Orofacial clefting syndrome | Enrichment | FST | 1.79 |
| 172 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1 | 1.79 |
| 173 | Mitral valve insufficiency | Enrichment | FBN1 | 1.76 |
| 174 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.70 |
| 175 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.70 |
| 176 | Histiocytoid hemangioma | Enrichment | FOS | 1.70 |
| 177 | Vascular dementia | Enrichment | TNF | 1.70 |
| 178 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.70 |
| 179 | Polycystic liver disease 1 with or without kidney cysts | Enrichment | FBN1 | 1.67 |
| 180 | Arthrogryposis, renal dysfunction, and cholestasis 1 | Enrichment | FBN1 | 1.67 |
| 181 | Polycystic liver disease 1 | Enrichment | FBN1 | 1.67 |
| 182 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.62 |
| 183 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | ENG | 1.62 |
| 184 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.62 |
| 185 | Anterior segment dysgenesis 5 | Enrichment | BMP4 | 1.62 |
| 186 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.62 |
| 187 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.62 |
| 188 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.62 |
| 189 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.62 |
| 190 | Hypertrichosis | Enrichment | CREBBP | 1.62 |
| 191 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.62 |
| 192 | Dental anomalies and short stature | Enrichment | LTBP3 | 1.59 |
| 193 | Inguinal hernia | Enrichment | FBN1 | 1.59 |
| 194 | Esophageal cancer | Enrichment | TGFBR2 | 1.55 |
| 195 | Nevus, epidermal | Enrichment | HRAS | 1.55 |
| 196 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.55 |
| 197 | Arima syndrome | Enrichment | ZNF423 | 1.55 |
| 198 | Noonan syndrome 3 | Enrichment | HRAS | 1.55 |
| 199 | Renal cell carcinoma with mit translocations | Enrichment | TFE3 | 1.55 |
| 200 | Megacolon | Enrichment | ZEB2 | 1.55 |
| 201 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.55 |
| 202 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.55 |
| 203 | Brugada syndrome 1 | Enrichment | FBN1 | 1.52 |
| 204 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.50 |
| 205 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.50 |
| 206 | Infantile nephronophthisis | Enrichment | ZNF423 | 1.50 |
| 207 | Orthostatic intolerance | Enrichment | FBN1 | 1.46 |
| 208 | Charge syndrome | Enrichment | EP300 | 1.44 |
| 209 | Polydactyly | Enrichment | SMAD6 | 1.44 |
| 210 | Arteriovenous malformation | Enrichment | HRAS | 1.44 |
| 211 | Peters-plus syndrome | Enrichment | BMP4 | 1.40 |
| 212 | Amelogenesis imperfecta, type ie | Enrichment | ITGB6 | 1.40 |
| 213 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS | 1.40 |
| 214 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.40 |
| 215 | Aplastic anemia | Enrichment | IFNG | 1.40 |
| 216 | Stickler syndrome | Enrichment | BMP4 | 1.40 |
| 217 | Stroke, ischemic | Enrichment | FBN1 | 1.37 |
| 218 | Melanoma | Enrichment | FBN1 | 1.37 |
| 219 | Asthma | Enrichment | TNF | 1.36 |
| 220 | Lung non-small cell carcinoma | Enrichment | HRAS | 1.36 |
| 221 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4 | 1.32 |
| 222 | Lip and oral cavity carcinoma | Enrichment | HRAS | 1.32 |
| 223 | Aortic valve disease 1 | Enrichment | SMAD6 | 1.29 |
| 224 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 1.29 |
| 225 | Pulmonary hypertension, primary, 1 | Enrichment | ENG | 1.29 |
| 226 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.29 |
| 227 | Alzheimer's disease | Enrichment | TNF | 1.29 |
| 228 | Chromosome 1p36 deletion syndrome | Enrichment | SKI | 1.29 |
| 229 | Diaphragmatic hernia, congenital | Enrichment | FBN1 | 1.26 |
| 230 | Amelogenesis imperfecta | Enrichment | LTBP3 | 1.26 |
| 231 | Osteoporosis | Enrichment | WNT1 | 1.26 |
| 232 | Medulloblastoma | Enrichment | CTNNB1 | 1.26 |
| 233 | Heart disease | Enrichment | CREBBP | 1.26 |
| 234 | Cleft lip/palate | Enrichment | BMP4 | 1.26 |
| 235 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.23 |
| 236 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.23 |
| 237 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 1.23 |
| 238 | Lynch syndrome | Enrichment | TGFBR2 | 1.23 |
| 239 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.23 |
| 240 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.23 |
| 241 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS | 1.23 |
| 242 | Rhabdomyosarcoma | Enrichment | HRAS | 1.20 |
| 243 | Myopia | Enrichment | FBN1 | 1.20 |
| 244 | Polycystic liver disease | Enrichment | CTNNB1 | 1.18 |
| 245 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.18 |
| 246 | Perrault syndrome 1 | Enrichment | FBN1 | 1.17 |
| 247 | Heart, malformation of | Enrichment | SMAD6 | 1.15 |
| 248 | Human immunodeficiency virus type 1 | Enrichment | IFNG | 1.15 |
| 249 | Arteriovenous malformations of the brain | Enrichment | ENG | 1.13 |
| 250 | Craniosynostosis | Enrichment | SMAD6 | 1.11 |
| 251 | Hepatoblastoma | Enrichment | CTNNB1 | 1.09 |
| 252 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 1.07 |
| 253 | Visceral heterotaxy | Enrichment | LEFTY2 | 1.07 |
| 254 | Microcephaly | Enrichment | CTNNB1, EP300 | 1.05 |
| 255 | Noonan syndrome 1 | Enrichment | HRAS | 1.05 |
| 256 | Brittle bone disorder | Enrichment | WNT1 | 1.05 |
| 257 | Malaria | Enrichment | TNF | 1.05 |
| 258 | Pancreatic cancer | Enrichment | SMAD4 | 1.01 |
| 259 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.00 |
| 260 | Rasopathy | Enrichment | HRAS | 1.00 |
| 261 | Differentiated thyroid carcinoma | Enrichment | HRAS | 0.95 |
| 262 | Non-immune hydrops fetalis | Enrichment | HRAS | 0.93 |
| 263 | Cystic fibrosis | Enrichment | TGFB1 | 0.91 |
| 264 | Myopathy | Enrichment | FBN1 | 0.80 |
| 265 | Gastric cancer | Enrichment | SMAD4 | 0.79 |
| 266 | Nephrotic syndrome | Enrichment | RUNX2 | 0.79 |
| 267 | Thrombocytopenia | Enrichment | SMAD4 | 0.75 |
| 268 | Myeloma, multiple | Enrichment | CREBBP | 0.69 |
| 269 | Primary ovarian insufficiency | Enrichment | THBS1 | 0.67 |
| 270 | Autism | Enrichment | CREBBP | 0.59 |
| 271 | Breast cancer | Enrichment | JUN | 0.58 |
| 272 | Dilated cardiomyopathy | Enrichment | FBN1 | 0.53 |
| 273 | Ovarian cancer | Enrichment | CTNNB1 | 0.47 |
| 274 | Inherited cancer-predisposing syndrome | Enrichment | SMAD4 | 0.38 |