| 1 | Human immunodeficiency virus type 1 | Enrichment | CCL2, CCL3, CCR2, CCR5, IL10 | 7.21 |
| 2 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 4.43 |
| 3 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 4.43 |
| 4 | Osteoporosis | Enrichment | COL1A1, COL1A2, SRC | 4.12 |
| 5 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 3.96 |
| 6 | Arteriovenous malformations of the brain | Enrichment | CDH2, IL6, PITPNM3 | 3.70 |
| 7 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, SMAD3 | 3.70 |
| 8 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 3.66 |
| 9 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 3.66 |
| 10 | Histiocytoid hemangioma | Enrichment | FOS, VIM | 3.44 |
| 11 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2 | 3.26 |
| 12 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 3.26 |
| 13 | Il10-related early-onset inflammatory bowel disease | Enrichment | IL10, TGFB1 | 3.26 |
| 14 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 3.26 |
| 15 | Prostate cancer | Enrichment | CDH1, MAD1L1, PTEN | 3.14 |
| 16 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 3.12 |
| 17 | Thyroid cancer, nonmedullary, 2 | Enrichment | NRAS, PTEN | 3.12 |
| 18 | Waardenburg syndrome, type 2e | Enrichment | KITLG, SNAI2 | 3.12 |
| 19 | Follicular thyroid carcinoma | Enrichment | NRAS, PTEN | 3.12 |
| 20 | Melanocytic nevus syndrome, congenital | Enrichment | NRAS, ZEB2 | 3.00 |
| 21 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 2.79 |
| 22 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 2.71 |
| 23 | Colorectal cancer | Enrichment | CDH1, EP300, NRAS, SRC | 2.70 |
| 24 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2, COL1A1, SMAD3 | 2.61 |
| 25 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 2.56 |
| 26 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 2.43 |
| 27 | Behcet syndrome | Enrichment | CCR1, IL10 | 2.23 |
| 28 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.21 |
| 29 | Cone-rod dystrophy 5 | Enrichment | PITPNM3 | 2.21 |
| 30 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.21 |
| 31 | Caspase 8 deficiency | Enrichment | CASP8 | 2.21 |
| 32 | Hyperpigmentation with or without hypopigmentation, familial progressive | Enrichment | KITLG | 2.21 |
| 33 | Polycystic lung disease | Enrichment | CCR2 | 2.21 |
| 34 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.21 |
| 35 | Noonan syndrome 6 | Enrichment | NRAS | 2.21 |
| 36 | Fetal encasement syndrome | Enrichment | CHUK | 2.21 |
| 37 | Whim syndrome 1 | Enrichment | CXCR4 | 2.21 |
| 38 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.21 |
| 39 | Immunodeficiency 15b | Enrichment | IKBKB | 2.21 |
| 40 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.21 |
| 41 | Immunodeficiency 15a | Enrichment | IKBKB | 2.21 |
| 42 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.21 |
| 43 | Hereditary lymphedema id | Enrichment | VEGFC | 2.21 |
| 44 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.21 |
| 45 | Graft-versus-host disease | Enrichment | IL10 | 2.21 |
| 46 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.21 |
| 47 | Lymphatic malformation 4 | Enrichment | VEGFC | 2.21 |
| 48 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.21 |
| 49 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.21 |
| 50 | Skin/hair/eye pigmentation, variation in, 7 | Enrichment | KITLG | 2.21 |
| 51 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.21 |
| 52 | Lactate dehydrogenase b deficiency | Enrichment | LDHB | 2.21 |
| 53 | Type 1 diabetes mellitus 22 | Enrichment | CCR5 | 2.21 |
| 54 | Glioma susceptibility 2 | Enrichment | PTEN | 2.21 |
| 55 | Thrombocytopenia 6 | Enrichment | SRC | 2.21 |
| 56 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.21 |
| 57 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.21 |
| 58 | Deafness, autosomal dominant 69 | Enrichment | KITLG | 2.21 |
| 59 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.21 |
| 60 | Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | Enrichment | MAD1L1 | 2.21 |
| 61 | Breast lobular carcinoma | Enrichment | CDH1 | 2.21 |
| 62 | Congenital primary lymphedema of gordon | Enrichment | VEGFC | 2.21 |
| 63 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.21 |
| 64 | Familial progressive hyperpigmentation | Enrichment | KITLG | 2.21 |
| 65 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.21 |
| 66 | Premature aging | Enrichment | VIM | 2.21 |
| 67 | Familial progressive hyper- and hypopigmentation | Enrichment | KITLG | 2.21 |
| 68 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.21 |
| 69 | Endometrial cancer | Enrichment | CDH1, PTEN | 2.14 |
| 70 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 2.07 |
| 71 | Breast cancer | Enrichment | CASP8, CDH1, PTEN | 1.96 |
| 72 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 1.91 |
| 73 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 1.91 |
| 74 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 1.91 |
| 75 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.91 |
| 76 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 1.91 |
| 77 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 1.91 |
| 78 | Bruck syndrome 1 | Enrichment | COL1A2 | 1.91 |
| 79 | Robinow-sorauf syndrome | Enrichment | TWIST1 | 1.91 |
| 80 | Mowat-wilson syndrome | Enrichment | ZEB2 | 1.91 |
| 81 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 1.91 |
| 82 | West nile virus | Enrichment | CCR5 | 1.91 |
| 83 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.91 |
| 84 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 1.91 |
| 85 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 1.91 |
| 86 | Piebald trait | Enrichment | SNAI2 | 1.91 |
| 87 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 1.91 |
| 88 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 1.91 |
| 89 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 1.91 |
| 90 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | NRAS | 1.91 |
| 91 | Moyamoya disease 5 | Enrichment | ACTA2 | 1.91 |
| 92 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.91 |
| 93 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 1.91 |
| 94 | Waardenburg syndrome, type 2f | Enrichment | KITLG | 1.91 |
| 95 | Sweeney-cox syndrome | Enrichment | TWIST1 | 1.91 |
| 96 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 1.91 |
| 97 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.91 |
| 98 | Cataract 30 | Enrichment | VIM | 1.91 |
| 99 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.91 |
| 100 | Stickler syndrome, type ii | Enrichment | COL1A1 | 1.91 |
| 101 | Ectodermal dysplasia and immune deficiency | Enrichment | NFKBIA | 1.91 |
| 102 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.91 |
| 103 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 1.91 |
| 104 | Non-syndromic sagittal craniosynostosis | Enrichment | TWIST1 | 1.91 |
| 105 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.91 |
| 106 | Lung cancer | Enrichment | ACTA2, CASP8 | 1.79 |
| 107 | Connective tissue disease | Enrichment | ACTA2, SMAD3 | 1.79 |
| 108 | Craniosynostosis 1 | Enrichment | TWIST1 | 1.74 |
| 109 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.74 |
| 110 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.74 |
| 111 | Langerhans cell histiocytosis | Enrichment | NRAS | 1.74 |
| 112 | Corneal dystrophy, posterior polymorphous, 3 | Enrichment | ZEB1 | 1.74 |
| 113 | Corneal dystrophy, fuchs endothelial, 6 | Enrichment | ZEB1 | 1.74 |
| 114 | Hepatitis c virus | Enrichment | CCR5 | 1.74 |
| 115 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 1.74 |
| 116 | Caffey disease | Enrichment | COL1A1 | 1.74 |
| 117 | Large congenital melanocytic nevus | Enrichment | NRAS | 1.74 |
| 118 | Intraocular pressure quantitative trait locus | Enrichment | ZEB1 | 1.74 |
| 119 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.74 |
| 120 | Melanoma of soft tissue | Enrichment | CREB1 | 1.74 |
| 121 | Kaposi sarcoma | Enrichment | IL6 | 1.62 |
| 122 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | NRAS | 1.62 |
| 123 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1 | 1.62 |
| 124 | Phenylketonuria | Enrichment | COL1A1 | 1.62 |
| 125 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.62 |
| 126 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.62 |
| 127 | Saethre-chotzen syndrome | Enrichment | TWIST1 | 1.62 |
| 128 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.62 |
| 129 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | NRAS | 1.62 |
| 130 | Retinopathy of prematurity | Enrichment | FZD4 | 1.62 |
| 131 | Aortic aneurysm | Enrichment | SMAD3 | 1.62 |
| 132 | Corneal dystrophy | Enrichment | ZEB1 | 1.62 |
| 133 | Non-syndromic bicoronal craniosynostosis | Enrichment | TWIST1 | 1.62 |
| 134 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.62 |
| 135 | Glioma | Enrichment | PTEN | 1.62 |
| 136 | Gastric cancer | Enrichment | CDH1, PTEN | 1.55 |
| 137 | Hereditary breast carcinoma | Enrichment | CDH1, PTEN | 1.53 |
| 138 | Exudative vitreoretinopathy 1 | Enrichment | FZD4 | 1.52 |
| 139 | Norrie disease | Enrichment | FZD4 | 1.52 |
| 140 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.52 |
| 141 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.52 |
| 142 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | MAD1L1 | 1.52 |
| 143 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.52 |
| 144 | Fuchs' endothelial dystrophy | Enrichment | ZEB1 | 1.52 |
| 145 | Hemangioma | Enrichment | PTEN | 1.52 |
| 146 | Persistent hyperplastic primary vitreous | Enrichment | FZD4 | 1.52 |
| 147 | Acute megakaryocytic leukemia | Enrichment | PTEN | 1.52 |
| 148 | Hemimegalencephaly | Enrichment | PTEN | 1.52 |
| 149 | Diffuse cutaneous systemic sclerosis | Enrichment | CCR6 | 1.52 |
| 150 | Corneal dystrophy, posterior polymorphous, 1 | Enrichment | ZEB1 | 1.44 |
| 151 | Cowden syndrome 1 | Enrichment | PTEN | 1.44 |
| 152 | Rubinstein-taybi syndrome 1 | Enrichment | EP300 | 1.44 |
| 153 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.44 |
| 154 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.44 |
| 155 | Testicular germ cell tumor | Enrichment | KITLG | 1.44 |
| 156 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | EP300 | 1.44 |
| 157 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.44 |
| 158 | Keratoconus | Enrichment | COL1A1 | 1.44 |
| 159 | Limited scleroderma | Enrichment | CCR6 | 1.44 |
| 160 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.44 |
| 161 | Nevus, epidermal | Enrichment | NRAS | 1.38 |
| 162 | Myelofibrosis | Enrichment | SRC | 1.38 |
| 163 | Squamous cell carcinoma, head and neck | Enrichment | PTEN | 1.38 |
| 164 | Coats disease | Enrichment | FZD4 | 1.38 |
| 165 | Leukemia, chronic myeloid | Enrichment | NRAS | 1.38 |
| 166 | Megacolon | Enrichment | ZEB2 | 1.38 |
| 167 | Exudative vitreoretinopathy | Enrichment | FZD4 | 1.32 |
| 168 | Mosaic variegated aneuploidy syndrome | Enrichment | MAD1L1 | 1.32 |
| 169 | Rheumatoid arthritis | Enrichment | IL10 | 1.27 |
| 170 | Charge syndrome | Enrichment | EP300 | 1.27 |
| 171 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.27 |
| 172 | Loeys-dietz syndrome | Enrichment | SMAD3 | 1.27 |
| 173 | Adult hepatocellular carcinoma | Enrichment | CASP8 | 1.27 |
| 174 | Cowden syndrome | Enrichment | PTEN | 1.27 |
| 175 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.27 |
| 176 | Cataract 30, multiple types | Enrichment | VIM | 1.23 |
| 177 | Melanoma | Enrichment | PTEN | 1.23 |
| 178 | Meningioma, familial | Enrichment | PTEN | 1.19 |
| 179 | Lung non-small cell carcinoma | Enrichment | NRAS | 1.19 |
| 180 | Uterine corpus cancer | Enrichment | PTEN | 1.19 |
| 181 | Specific learning disability | Enrichment | MAPK1 | 1.19 |
| 182 | Juvenile myelomonocytic leukemia | Enrichment | NRAS | 1.15 |
| 183 | Meningioma | Enrichment | PTEN | 1.15 |
| 184 | Neural tube defects | Enrichment | ITGB1 | 1.12 |
| 185 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.12 |
| 186 | Protein-deficiency anemia | Enrichment | NRAS | 1.12 |
| 187 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.08 |
| 188 | Lung cancer susceptibility 3 | Enrichment | ACTA2 | 1.08 |
| 189 | Cleft lip/palate | Enrichment | CDH1 | 1.08 |
| 190 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2 | 1.08 |
| 191 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.06 |
| 192 | Corpus callosum, agenesis of | Enrichment | CDH2 | 1.06 |
| 193 | Isolated corpus callosum agenesis | Enrichment | CDH2 | 1.06 |
| 194 | Rare genetic intellectual disability | Enrichment | EP300 | 1.06 |
| 195 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2 | 1.06 |
| 196 | Noonan syndrome and noonan-related syndrome | Enrichment | NRAS | 1.06 |
| 197 | Rhabdomyosarcoma | Enrichment | PTEN | 1.03 |
| 198 | Gliosarcoma | Enrichment | NFKBIA | 1.03 |
| 199 | Giant cell glioblastoma | Enrichment | NFKBIA | 1.00 |
| 200 | Heart, malformation of | Enrichment | MAPK1 | 0.98 |
| 201 | Diffuse large b-cell lymphoma | Enrichment | PTEN | 0.96 |
| 202 | Williams-beuren syndrome | Enrichment | LIMK1 | 0.94 |
| 203 | Hepatocellular carcinoma | Enrichment | CASP8 | 0.90 |
| 204 | Ovarian cancer | Enrichment | CDH1, PTEN | 0.90 |
| 205 | Noonan syndrome 1 | Enrichment | NRAS | 0.88 |
| 206 | Cone dystrophy | Enrichment | PITPNM3 | 0.86 |
| 207 | Congenital nervous system abnormality | Enrichment | PTEN, ZEB2 | 0.86 |
| 208 | Nervous system disease | Enrichment | PTEN, ZEB2 | 0.86 |
| 209 | Rasopathy | Enrichment | NRAS | 0.83 |
| 210 | Auditory neuropathy | Enrichment | CDH2 | 0.83 |
| 211 | Bladder cancer | Enrichment | PTEN | 0.79 |
| 212 | Differentiated thyroid carcinoma | Enrichment | NRAS | 0.79 |
| 213 | Microcephaly | Enrichment | EP300, MAPK1 | 0.76 |
| 214 | Cystic fibrosis | Enrichment | TGFB1 | 0.75 |
| 215 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.74 |
| 216 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, PTEN | 0.71 |
| 217 | Systemic lupus erythematosus | Enrichment | IL10 | 0.67 |
| 218 | Leukemia, acute myeloid | Enrichment | NRAS | 0.66 |
| 219 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.64 |
| 220 | Nephrotic syndrome | Enrichment | FN1 | 0.63 |
| 221 | Thrombocytopenia | Enrichment | SRC | 0.59 |
| 222 | Hypertelorism | Enrichment | COL1A1 | 0.56 |
| 223 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | KITLG | 0.56 |
| 224 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN | 0.54 |
| 225 | Undetermined early-onset epileptic encephalopathy | Enrichment | LIMK1 | 0.54 |
| 226 | Autosomal recessive non-syndromic intellectual disability | Enrichment | EZR | 0.52 |
| 227 | Cone-rod dystrophy 2 | Enrichment | PITPNM3 | 0.47 |
| 228 | Autism spectrum disorder | Enrichment | PTEN | 0.31 |
| 229 | Hereditary retinal dystrophy | Enrichment | FZD4 | 0.08 |
| 230 | Fundus dystrophy | Enrichment | FZD4 | 0.08 |