| 1 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3, TGFB2 | 5.26 |
| 2 | Familial partial lipodystrophy | Enrichment | LMNA, PPARG | 5.14 |
| 3 | 12q14 microdeletion syndrome | Enrichment | HMGA2, LEMD3 | 4.78 |
| 4 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 4.66 |
| 5 | Restrictive dermopathy 1 | Enrichment | LMNA, ZMPSTE24 | 4.66 |
| 6 | Desmoid tumor | Enrichment | APC, CTNNB1 | 4.66 |
| 7 | Restrictive dermopathy | Enrichment | LMNA, ZMPSTE24 | 4.66 |
| 8 | Hepatocellular carcinoma | Enrichment | APC, AXIN1, CTNNB1 | 4.56 |
| 9 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1, SMAD2, SMAD3, TGFB2 | 4.50 |
| 10 | Hutchinson-gilford progeria syndrome | Enrichment | LMNA, ZMPSTE24 | 4.36 |
| 11 | Emery-dreifuss muscular dystrophy 1, x-linked | Enrichment | EMD, LMNA | 4.36 |
| 12 | Emery-dreifuss muscular dystrophy | Enrichment | EMD, LMNA | 4.36 |
| 13 | Craniopharyngioma | Enrichment | APC, CTNNB1 | 4.36 |
| 14 | Dedifferentiated liposarcoma | Enrichment | CDK4, HMGA2 | 4.30 |
| 15 | Well-differentiated liposarcoma | Enrichment | CDK4, HMGA2 | 4.30 |
| 16 | Colorectal cancer | Enrichment | APC, CCND1, CTNNB1, PPARG | 4.05 |
| 17 | Type 2 diabetes mellitus | Enrichment | PPARG, SLC2A4, TCF7L2 | 3.70 |
| 18 | Inherited cancer-predisposing syndrome | Enrichment | APC, CDK4, CEBPA, DICER1, RB1 | 3.68 |
| 19 | Bladder cancer | Enrichment | CDKN1A, CTNNB1, RB1 | 3.65 |
| 20 | Atrial septal defect 1 | Enrichment | BMP2, TGFB2 | 3.60 |
| 21 | Adult hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1 | 3.59 |
| 22 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | LMNA, TOR1AIP1 | 3.33 |
| 23 | Medulloblastoma | Enrichment | APC, CTNNB1 | 3.19 |
| 24 | Ovarian cancer | Enrichment | APC, CTNNB1, DICER1, RB1 | 3.10 |
| 25 | Neuromuscular disease | Enrichment | EMD, LMNA | 2.97 |
| 26 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | EMD, LMNA | 2.92 |
| 27 | Hepatoblastoma | Enrichment | APC, CTNNB1 | 2.83 |
| 28 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1, SMAD3 | 2.83 |
| 29 | Rhabdomyosarcoma, embryonal, 2 | Enrichment | DICER1 | 2.56 |
| 30 | Mucoepithelial dysplasia, hereditary | Enrichment | SREBF1 | 2.56 |
| 31 | Split-hand/foot malformation 6 | Enrichment | WNT10B | 2.56 |
| 32 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 2.56 |
| 33 | Caudal duplication anomaly | Enrichment | AXIN1 | 2.56 |
| 34 | Tooth agenesis, selective, 8 | Enrichment | WNT10B | 2.56 |
| 35 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.56 |
| 36 | Silver-russell syndrome 5 | Enrichment | HMGA2 | 2.56 |
| 37 | Ifap syndrome 2 | Enrichment | SREBF1 | 2.56 |
| 38 | Dicer1 syndrome | Enrichment | DICER1 | 2.56 |
| 39 | Pleuropulmonary blastoma | Enrichment | DICER1 | 2.56 |
| 40 | Global developmental delay, lung cysts, overgrowth, and wilms tumor | Enrichment | DICER1 | 2.56 |
| 41 | Stature quantitative trait locus 9 | Enrichment | HMGA2 | 2.56 |
| 42 | Atypical werner syndrome | Enrichment | LMNA | 2.56 |
| 43 | Malignant sertoli-leydig cell tumor of ovary | Enrichment | DICER1 | 2.56 |
| 44 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 2.56 |
| 45 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.56 |
| 46 | Pparg-associated congenital generalized lipodystrophy | Enrichment | PPARG | 2.56 |
| 47 | Mandibuloacral dysplasia | Enrichment | LMNA | 2.56 |
| 48 | Atrioventricular block | Enrichment | LMNA | 2.56 |
| 49 | Supratentorial primitive neuroectodermal tumor | Enrichment | DICER1 | 2.56 |
| 50 | Familial adenomatous polyposis | Enrichment | APC | 2.56 |
| 51 | Gynandroblastoma | Enrichment | DICER1 | 2.56 |
| 52 | Dicer1 tumor predisposition | Enrichment | DICER1 | 2.56 |
| 53 | Acute myeloid leukemia with mutated cebpa | Enrichment | CEBPA | 2.56 |
| 54 | Lmna-related cardiocutaneous progeria syndrome | Enrichment | LMNA | 2.56 |
| 55 | Gardner syndrome | Enrichment | APC | 2.56 |
| 56 | 5q22 microdeletion syndrome | Enrichment | APC | 2.56 |
| 57 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.56 |
| 58 | Autosomal semi-dominant severe lipodystrophic laminopathy | Enrichment | LMNA | 2.56 |
| 59 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.56 |
| 60 | Autosomal recessive axonal hereditary motor and sensory neuropathy | Enrichment | LMNA | 2.56 |
| 61 | Laminopathy | Enrichment | LMNA | 2.56 |
| 62 | Ehlers-danlos syndrome | Enrichment | SMAD3, TGFB2 | 2.56 |
| 63 | Buschke-ollendorff syndrome | Enrichment | LEMD3 | 2.38 |
| 64 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.38 |
| 65 | Pycnodysostosis | Enrichment | CTSK | 2.38 |
| 66 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.38 |
| 67 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.38 |
| 68 | Brunner syndrome | Enrichment | MAOA | 2.38 |
| 69 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.38 |
| 70 | Becker nevus syndrome | Enrichment | ACTB | 2.38 |
| 71 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.38 |
| 72 | Congenital myopathy 17 | Enrichment | MYOD1 | 2.38 |
| 73 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.38 |
| 74 | 20p12.3 microdeletion syndrome | Enrichment | BMP2 | 2.38 |
| 75 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | Enrichment | BMP2 | 2.38 |
| 76 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.38 |
| 77 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.38 |
| 78 | Melorheostosis with osteopoikilosis | Enrichment | LEMD3 | 2.38 |
| 79 | Trilateral retinoblastoma | Enrichment | RB1 | 2.38 |
| 80 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.38 |
| 81 | Baraitser-winter syndrome | Enrichment | ACTB | 2.38 |
| 82 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.38 |
| 83 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.38 |
| 84 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.38 |
| 85 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.38 |
| 86 | Isolated osteopoikilosis | Enrichment | LEMD3 | 2.38 |
| 87 | Lung oat cell carcinoma | Enrichment | RB1 | 2.38 |
| 88 | Scoliosis | Enrichment | CREBBP, CTSK | 2.36 |
| 89 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 2.26 |
| 90 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 2.26 |
| 91 | Mandibuloacral dysplasia with type a lipodystrophy | Enrichment | LMNA | 2.26 |
| 92 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.26 |
| 93 | Carotid intimal medial thickness 1 | Enrichment | PPARG | 2.26 |
| 94 | Myopathy, x-linked, with postural muscle atrophy | Enrichment | EMD | 2.26 |
| 95 | Premature ovarian failure 3 | Enrichment | AGO2 | 2.26 |
| 96 | Heart-hand syndrome, slovenian type | Enrichment | LMNA | 2.26 |
| 97 | Salivary gland adenoma, pleomorphic | Enrichment | HMGA2 | 2.26 |
| 98 | Charcot-marie-tooth disease, axonal, type 2b1 | Enrichment | LMNA | 2.26 |
| 99 | Goiter, multinodular 1, with or without sertoli-leydig cell tumors | Enrichment | DICER1 | 2.26 |
| 100 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism | Enrichment | LMNA | 2.26 |
| 101 | Cardiomyopathy, dilated, 1d | Enrichment | LMNA | 2.26 |
| 102 | Restrictive dermopathy 2 | Enrichment | LMNA | 2.26 |
| 103 | Emery-dreifuss muscular dystrophy 3, autosomal recessive | Enrichment | LMNA | 2.26 |
| 104 | Vertebral anomalies and variable endocrine and t-cell dysfunction | Enrichment | DICER1 | 2.26 |
| 105 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.26 |
| 106 | Split hand-foot malformation | Enrichment | LEF1 | 2.26 |
| 107 | Mandibuloacral dysplasia with type b lipodystrophy | Enrichment | ZMPSTE24 | 2.26 |
| 108 | Lipodystrophy, familial partial, type 1 | Enrichment | LMNA | 2.26 |
| 109 | Pineoblastoma | Enrichment | DICER1 | 2.26 |
| 110 | Periampullary adenoma | Enrichment | APC | 2.26 |
| 111 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 2.26 |
| 112 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.26 |
| 113 | Teratoma | Enrichment | CTNNB1 | 2.26 |
| 114 | Malignant granulosa cell tumor of the ovary | Enrichment | DICER1 | 2.26 |
| 115 | Charcot-marie-tooth disease type 2b1 | Enrichment | LMNA | 2.26 |
| 116 | X-linked emery-dreifuss muscular dystrophy | Enrichment | EMD | 2.26 |
| 117 | Connective tissue disease | Enrichment | NOTCH1, SMAD3 | 2.12 |
| 118 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 2.09 |
| 119 | Ifap syndrome 1, with or without bresheck syndrome | Enrichment | SREBF1 | 2.09 |
| 120 | Adiponectin deficiency | Enrichment | ADIPOQ | 2.09 |
| 121 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.09 |
| 122 | Lipodystrophy, familial partial, type 2 | Enrichment | LMNA | 2.09 |
| 123 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 2.09 |
| 124 | Muscular dystrophy, congenital, lmna-related | Enrichment | LMNA | 2.09 |
| 125 | Anus, imperforate | Enrichment | CTNNB1 | 2.09 |
| 126 | Myopathy, autosomal recessive, with rigid spine and distal joint contractures | Enrichment | TOR1AIP1 | 2.09 |
| 127 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.09 |
| 128 | Cleidocranial dysplasia | Enrichment | RUNX2 | 2.09 |
| 129 | Lessel-kreienkamp syndrome | Enrichment | AGO2 | 2.09 |
| 130 | Colon adenocarcinoma | Enrichment | APC | 2.09 |
| 131 | Apc-associated polyposis conditions | Enrichment | APC | 2.09 |
| 132 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.08 |
| 133 | Paget disease of bone 5, juvenile-onset | Enrichment | TNFRSF11B | 2.08 |
| 134 | Thumb deformity | Enrichment | CREBBP | 2.08 |
| 135 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 2.08 |
| 136 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.08 |
| 137 | Muscle hypertrophy | Enrichment | MSTN | 2.08 |
| 138 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.08 |
| 139 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.08 |
| 140 | Myostatin-related muscle hypertrophy | Enrichment | MSTN | 2.08 |
| 141 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.08 |
| 142 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.08 |
| 143 | Osteopoikilosis | Enrichment | LEMD3 | 2.08 |
| 144 | Loeys-dietz syndrome 4 | Enrichment | TGFB2 | 2.08 |
| 145 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB | 2.08 |
| 146 | Craniosynostosis 7 | Enrichment | BMP2 | 2.08 |
| 147 | Familial retinoblastoma | Enrichment | RB1 | 2.08 |
| 148 | Microtia-anotia | Enrichment | LMNA | 1.96 |
| 149 | Lipodystrophy, familial partial, type 3 | Enrichment | PPARG | 1.96 |
| 150 | Pilomatrixoma | Enrichment | CTNNB1 | 1.96 |
| 151 | Leptin deficiency or dysfunction | Enrichment | PPARG | 1.96 |
| 152 | Alazami syndrome | Enrichment | CTNNB1 | 1.96 |
| 153 | Congenital generalized lipodystrophy | Enrichment | PPARG | 1.96 |
| 154 | Mantle cell lymphoma | Enrichment | CCND1 | 1.96 |
| 155 | Embryonal rhabdomyosarcoma | Enrichment | DICER1 | 1.96 |
| 156 | Sick sinus syndrome | Enrichment | LMNA | 1.96 |
| 157 | Silver-russell syndrome due to a point mutation | Enrichment | HMGA2 | 1.96 |
| 158 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 1.96 |
| 159 | Retinoblastoma | Enrichment | RB1 | 1.91 |
| 160 | Microphthalmia, syndromic 9 | Enrichment | WNT7B | 1.91 |
| 161 | Osteogenic sarcoma | Enrichment | RB1 | 1.91 |
| 162 | Transposition of the great arteries, dextro-looped | Enrichment | BMP2 | 1.91 |
| 163 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.91 |
| 164 | Hypotrichosis 8 | Enrichment | RB1 | 1.91 |
| 165 | Tethered spinal cord syndrome | Enrichment | CREBBP | 1.91 |
| 166 | Nail disorder, nonsyndromic congenital, 9 | Enrichment | CTSK | 1.91 |
| 167 | Loeys-dietz syndrome 1 | Enrichment | SMAD2 | 1.91 |
| 168 | Squamous cell carcinoma | Enrichment | RB1 | 1.91 |
| 169 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 1.91 |
| 170 | Bone osteosarcoma | Enrichment | RB1 | 1.91 |
| 171 | Keratoacanthoma | Enrichment | NOTCH1 | 1.91 |
| 172 | Gastric cancer | Enrichment | APC, CDK4 | 1.87 |
| 173 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.87 |
| 174 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.87 |
| 175 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.87 |
| 176 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | LMNA | 1.87 |
| 177 | Histiocytoid hemangioma | Enrichment | LMNA | 1.87 |
| 178 | Inherited acute myeloid leukemia | Enrichment | CEBPA | 1.87 |
| 179 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | CEBPA | 1.87 |
| 180 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | Enrichment | LMNA | 1.79 |
| 181 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.79 |
| 182 | Muscular dystrophy, limb-girdle, autosomal recessive 1 | Enrichment | TOR1AIP1 | 1.79 |
| 183 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.79 |
| 184 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.79 |
| 185 | Brachydactyly, type a2 | Enrichment | BMP2 | 1.78 |
| 186 | Small cell cancer of the lung | Enrichment | RB1 | 1.78 |
| 187 | Chondrocalcinosis 2 | Enrichment | TNFRSF11B | 1.78 |
| 188 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.78 |
| 189 | Lynch syndrome 4 | Enrichment | RB1 | 1.78 |
| 190 | Aortic aneurysm | Enrichment | SMAD3 | 1.78 |
| 191 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.78 |
| 192 | Bethlem myopathy 1a | Enrichment | LMNA | 1.72 |
| 193 | Silver-russell syndrome 1 | Enrichment | HMGA2 | 1.72 |
| 194 | Gallbladder cancer | Enrichment | CTNNB1 | 1.72 |
| 195 | Dilated cardiomyopathy | Enrichment | EMD, LMNA | 1.70 |
| 196 | Familial isolated dilated cardiomyopathy | Enrichment | LMNA, TMPO | 1.70 |
| 197 | Ventricular septal defect 1 | Enrichment | BMP2 | 1.69 |
| 198 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.67 |
| 199 | Congenital muscular dystrophy | Enrichment | LMNA | 1.67 |
| 200 | Myocarditis | Enrichment | LMNA | 1.67 |
| 201 | Isolated split hand-split foot malformation | Enrichment | WNT10B | 1.67 |
| 202 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | LMNA | 1.61 |
| 203 | Colonic benign neoplasm | Enrichment | APC | 1.61 |
| 204 | Myopathy, centronuclear, 1 | Enrichment | MYOD1 | 1.61 |
| 205 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP | 1.61 |
| 206 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP | 1.61 |
| 207 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.61 |
| 208 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.61 |
| 209 | Hypertrichosis | Enrichment | CREBBP | 1.61 |
| 210 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.57 |
| 211 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.54 |
| 212 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.54 |
| 213 | Cardiac conduction defect | Enrichment | LMNA | 1.49 |
| 214 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | LMNA | 1.49 |
| 215 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | LMNA | 1.49 |
| 216 | Hemochromatosis, type 1 | Enrichment | BMP2 | 1.49 |
| 217 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.49 |
| 218 | Autism | Enrichment | CREBBP, TCF7L2 | 1.45 |
| 219 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.44 |
| 220 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | LMNA | 1.43 |
| 221 | Marfan syndrome | Enrichment | TGFB2 | 1.39 |
| 222 | Primary bone dysplasia | Enrichment | CTSK | 1.39 |
| 223 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | LMNA | 1.37 |
| 224 | Rhabdomyosarcoma | Enrichment | DICER1 | 1.37 |
| 225 | Gliosarcoma | Enrichment | PPARG | 1.37 |
| 226 | Osteochondrodysplasia | Enrichment | CTSK | 1.35 |
| 227 | Complex neurodevelopmental disorder | Enrichment | AGO2, TCF7L2 | 1.35 |
| 228 | Cardiomyopathy, dilated, 1e | Enrichment | LMNA | 1.34 |
| 229 | Polycystic liver disease | Enrichment | CTNNB1 | 1.34 |
| 230 | Giant cell glioblastoma | Enrichment | PPARG | 1.34 |
| 231 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.34 |
| 232 | Lip and oral cavity carcinoma | Enrichment | RB1 | 1.31 |
| 233 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.28 |
| 234 | Cardiomyopathy, dilated, 1a | Enrichment | LMNA | 1.25 |
| 235 | Centronuclear myopathy | Enrichment | TOR1AIP1 | 1.25 |
| 236 | Lung cancer susceptibility 3 | Enrichment | RB1 | 1.25 |
| 237 | Heart disease | Enrichment | CREBBP | 1.25 |
| 238 | Tooth agenesis | Enrichment | WNT10B | 1.23 |
| 239 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.22 |
| 240 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.22 |
| 241 | Rare genetic intellectual disability | Enrichment | CREBBP | 1.22 |
| 242 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.22 |
| 243 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | LMNA | 1.20 |
| 244 | Muscular dystrophy | Enrichment | LMNA | 1.20 |
| 245 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4 | 1.17 |
| 246 | Brugada syndrome | Enrichment | LMNA | 1.16 |
| 247 | Congenital nervous system abnormality | Enrichment | CREBBP, CTNNB1 | 1.15 |
| 248 | Nervous system disease | Enrichment | CREBBP, CTNNB1 | 1.15 |
| 249 | Arteriovenous malformations of the brain | Enrichment | LEMD3 | 1.12 |
| 250 | Diffuse large b-cell lymphoma | Enrichment | CREBBP | 1.12 |
| 251 | Hirschsprung disease 1 | Enrichment | SREBF1 | 1.12 |
| 252 | Differentiated thyroid carcinoma | Enrichment | PPARG | 1.12 |
| 253 | Macs syndrome | Enrichment | WNT7B | 1.10 |
| 254 | Long qt syndrome | Enrichment | LMNA | 1.09 |
| 255 | Primary autosomal recessive microcephaly | Enrichment | CDK6 | 1.08 |
| 256 | Peripheral nervous system disease | Enrichment | LMNA | 1.08 |
| 257 | Neuropathy | Enrichment | LMNA | 1.08 |
| 258 | Microphthalmia | Enrichment | WNT7B | 1.06 |
| 259 | Left ventricular noncompaction | Enrichment | LMNA | 1.04 |
| 260 | Microcephaly | Enrichment | ACTB, CTNNB1 | 1.04 |
| 261 | Systemic lupus erythematosus | Enrichment | SPP1 | 0.99 |
| 262 | Tetralogy of fallot | Enrichment | NOTCH1 | 0.99 |
| 263 | Leukemia, acute myeloid | Enrichment | CEBPA | 0.98 |
| 264 | Myopathy | Enrichment | EMD | 0.98 |
| 265 | Charcot-marie-tooth disease | Enrichment | LMNA | 0.97 |
| 266 | Nephrotic syndrome | Enrichment | RUNX2 | 0.95 |
| 267 | Hereditary breast carcinoma | Enrichment | APC | 0.95 |
| 268 | Cystic fibrosis | Enrichment | TGFB1 | 0.91 |
| 269 | Body mass index quantitative trait locus 11 | Enrichment | PPARG | 0.89 |
| 270 | Fetal akinesia deformation sequence 1 | Enrichment | MYOD1 | 0.85 |
| 271 | Myeloma, multiple | Enrichment | CCND1 | 0.85 |
| 272 | Distal arthrogryposis | Enrichment | MYOD1 | 0.80 |
| 273 | Breast cancer | Enrichment | APC | 0.73 |