| 1 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B, CDKN2B | 5.50 |
| 2 | Inherited cancer-predisposing syndrome | Enrichment | BRCA1, CDKN1B, CEBPA, MAX, SMAD4, TSC2 | 4.53 |
| 3 | Colorectal cancer | Enrichment | BRCA1, CCND1, EP300, ERBB2, SMAD4 | 4.33 |
| 4 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2, MYC | 4.21 |
| 5 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6, ITGB4 | 3.52 |
| 6 | Bladder cancer | Enrichment | BRCA1, CDKN1A, ERBB2 | 3.52 |
| 7 | Junctional epidermolysis bullosa | Enrichment | ITGA6, ITGB4 | 3.14 |
| 8 | Gastric cancer | Enrichment | BRCA1, ERBB2, SMAD4 | 3.01 |
| 9 | Ovarian cancer | Enrichment | BRCA1, CDKN1B, ERBB2, TSC2 | 2.94 |
| 10 | Rare genetic intellectual disability | Enrichment | DNMT3A, EP300 | 2.68 |
| 11 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.34 |
| 12 | Chiari malformation type i | Enrichment | DKK1 | 2.34 |
| 13 | Paget disease, extramammary | Enrichment | ERBB2 | 2.34 |
| 14 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.34 |
| 15 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.34 |
| 16 | Buruli ulcer | Enrichment | SLC11A1 | 2.34 |
| 17 | Deafness, autosomal dominant 51 | Enrichment | TJP2 | 2.34 |
| 18 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.34 |
| 19 | Immunodeficiency 32a | Enrichment | IRF8 | 2.34 |
| 20 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.34 |
| 21 | Agammaglobulinemia 10, autosomal dominant | Enrichment | SPI1 | 2.34 |
| 22 | Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development | Enrichment | PTPA | 2.34 |
| 23 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.34 |
| 24 | Heyn-sproul-jackson syndrome | Enrichment | DNMT3A | 2.34 |
| 25 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.34 |
| 26 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.34 |
| 27 | Optic atrophy 7 with or without auditory neuropathy | Enrichment | TMEM126A | 2.34 |
| 28 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.34 |
| 29 | Polydactyly-macrocephaly syndrome | Enrichment | MAX | 2.34 |
| 30 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.34 |
| 31 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.34 |
| 32 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.34 |
| 33 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.34 |
| 34 | Autosomal recessive optic atrophy, opa7 type | Enrichment | TMEM126A | 2.34 |
| 35 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.34 |
| 36 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.34 |
| 37 | Agammaglobulinemia | Enrichment | SPI1 | 2.34 |
| 38 | Acute myeloid leukemia with mutated cebpa | Enrichment | CEBPA | 2.34 |
| 39 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.34 |
| 40 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.34 |
| 41 | Pancreatic cancer | Enrichment | BRCA1, SMAD4 | 2.24 |
| 42 | Burkitt lymphoma | Enrichment | MYC | 2.04 |
| 43 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.04 |
| 44 | Myhre syndrome | Enrichment | SMAD4 | 2.04 |
| 45 | Immunodeficiency 32b | Enrichment | IRF8 | 2.04 |
| 46 | Vitreoretinochoroidopathy | Enrichment | FTH1 | 2.04 |
| 47 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.04 |
| 48 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.04 |
| 49 | Neutropenia, nonimmune chronic idiopathic, of adults | Enrichment | GFI1 | 2.04 |
| 50 | Spinocerebellar ataxia 17 | Enrichment | TBP | 2.04 |
| 51 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.04 |
| 52 | Lymphangioleiomyomatosis | Enrichment | TSC2 | 2.04 |
| 53 | Retinitis pigmentosa 50 | Enrichment | FTH1 | 2.04 |
| 54 | Cholestasis, progressive familial intrahepatic, 4 | Enrichment | TJP2 | 2.04 |
| 55 | Neutropenia, severe congenital, 2, autosomal dominant | Enrichment | GFI1 | 2.04 |
| 56 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.04 |
| 57 | Charcot-marie-tooth disease, demyelinating, type 4d | Enrichment | NDRG1 | 2.04 |
| 58 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 2.04 |
| 59 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.04 |
| 60 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A2 | 2.04 |
| 61 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.04 |
| 62 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.04 |
| 63 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.04 |
| 64 | 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency | Enrichment | HMGCS2 | 2.04 |
| 65 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.04 |
| 66 | Hemochromatosis, type 5 | Enrichment | FTH1 | 2.04 |
| 67 | Tatton-brown-rahman syndrome | Enrichment | DNMT3A | 2.04 |
| 68 | Inflammatory breast carcinoma | Enrichment | BRCA1 | 2.04 |
| 69 | Peritoneum cancer | Enrichment | BRCA1 | 2.04 |
| 70 | Charcot-marie-tooth disease type 4d | Enrichment | NDRG1 | 2.04 |
| 71 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A2 | 2.04 |
| 72 | Bilateral breast cancer | Enrichment | BRCA1 | 2.04 |
| 73 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 2.04 |
| 74 | Neurodegeneration with brain iron accumulation 9 | Enrichment | FTH1 | 2.04 |
| 75 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.04 |
| 76 | Lung cancer | Enrichment | BRCA1, ERBB2 | 2.03 |
| 77 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.86 |
| 78 | Tuberous sclerosis 1 | Enrichment | TSC2 | 1.86 |
| 79 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.86 |
| 80 | Osteoporosis, juvenile | Enrichment | DKK1 | 1.86 |
| 81 | Hypercholanemia, familial 1 | Enrichment | TJP2 | 1.86 |
| 82 | Tuberous sclerosis 2 | Enrichment | TSC2 | 1.86 |
| 83 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 1.86 |
| 84 | Loeys-dietz syndrome 1 | Enrichment | SMAD2 | 1.86 |
| 85 | Hamartoma | Enrichment | TSC2 | 1.86 |
| 86 | Xanthinuria, type ii | Enrichment | TSC2 | 1.86 |
| 87 | Myxoid liposarcoma | Enrichment | DDIT3 | 1.86 |
| 88 | High bone mass osteogenesis imperfecta | Enrichment | COL1A2 | 1.86 |
| 89 | Melanoma of soft tissue | Enrichment | CREB1 | 1.86 |
| 90 | Leukemia, acute myeloid | Enrichment | CEBPA, DNMT3A | 1.84 |
| 91 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD2, SMAD4 | 1.76 |
| 92 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A2 | 1.74 |
| 93 | Robinow syndrome, autosomal dominant 1 | Enrichment | WNT5A | 1.74 |
| 94 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1 | 1.74 |
| 95 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 1.74 |
| 96 | Focal cortical dysplasia, type ii | Enrichment | TSC2 | 1.74 |
| 97 | Bestrophinopathy, autosomal recessive | Enrichment | FTH1 | 1.74 |
| 98 | Cholangiocarcinoma | Enrichment | BRCA1 | 1.74 |
| 99 | Barrett esophagus | Enrichment | ERBB2 | 1.74 |
| 100 | Mantle cell lymphoma | Enrichment | CCND1 | 1.74 |
| 101 | Tuberous sclerosis | Enrichment | TSC2 | 1.74 |
| 102 | Tuberculosis | Enrichment | SLC11A1 | 1.74 |
| 103 | Autosomal dominant robinow syndrome | Enrichment | WNT5A | 1.74 |
| 104 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A2 | 1.74 |
| 105 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.74 |
| 106 | Isolated focal cortical dysplasia type ii | Enrichment | TSC2 | 1.74 |
| 107 | Macular dystrophy, vitelliform, 2 | Enrichment | FTH1 | 1.64 |
| 108 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 1.64 |
| 109 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.64 |
| 110 | Robinow syndrome, autosomal recessive 1 | Enrichment | WNT5A | 1.64 |
| 111 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1 | 1.64 |
| 112 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.64 |
| 113 | Follicular lymphoma | Enrichment | BCL2 | 1.64 |
| 114 | Myeloproliferative neoplasm | Enrichment | DNMT3A | 1.64 |
| 115 | Glioblastoma | Enrichment | DNMT3A | 1.64 |
| 116 | Epidermolysis bullosa | Enrichment | ITGA6 | 1.64 |
| 117 | Aplasia cutis congenita | Enrichment | ITGB4 | 1.64 |
| 118 | Autosomal dominant severe congenital neutropenia | Enrichment | GFI1 | 1.64 |
| 119 | Inherited acute myeloid leukemia | Enrichment | CEBPA | 1.64 |
| 120 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | CEBPA | 1.64 |
| 121 | Primary hypereosinophilic syndrome | Enrichment | PDGFRB | 1.64 |
| 122 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.64 |
| 123 | Myeloma, multiple | Enrichment | CCND1, DNMT3A | 1.57 |
| 124 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A2 | 1.57 |
| 125 | Branchiootorenal syndrome 1 | Enrichment | TJP2 | 1.57 |
| 126 | Osteogenesis imperfecta, type i | Enrichment | COL1A2 | 1.57 |
| 127 | Rubinstein-taybi syndrome 1 | Enrichment | EP300 | 1.57 |
| 128 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4 | 1.57 |
| 129 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | EP300 | 1.57 |
| 130 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4 | 1.57 |
| 131 | Autosomal recessive robinow syndrome | Enrichment | WNT5A | 1.57 |
| 132 | Classic ehlers-danlos syndrome | Enrichment | COL1A2 | 1.57 |
| 133 | Familial hypercholanemia | Enrichment | TJP2 | 1.57 |
| 134 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | DNMT3A | 1.57 |
| 135 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.50 |
| 136 | Osteogenesis imperfecta, type ii | Enrichment | COL1A2 | 1.50 |
| 137 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.50 |
| 138 | Branchiootorenal syndrome | Enrichment | TJP2 | 1.50 |
| 139 | Gallbladder cancer | Enrichment | SMAD4 | 1.50 |
| 140 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.50 |
| 141 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 1.50 |
| 142 | Glioma susceptibility 1 | Enrichment | ERBB2 | 1.44 |
| 143 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFRB | 1.44 |
| 144 | Charge syndrome | Enrichment | EP300 | 1.39 |
| 145 | Loeys-dietz syndrome | Enrichment | SMAD2 | 1.39 |
| 146 | Adult hepatocellular carcinoma | Enrichment | TSC2 | 1.39 |
| 147 | Primary biliary cholangitis | Enrichment | TJP2 | 1.39 |
| 148 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.35 |
| 149 | Melanoma | Enrichment | DNMT3A | 1.35 |
| 150 | Autosomal non-syndromic agammaglobulinemia | Enrichment | SPI1 | 1.35 |
| 151 | Primary bone dysplasia | Enrichment | COL1A2 | 1.35 |
| 152 | Breast cancer | Enrichment | BRCA1, CDKN2B | 1.34 |
| 153 | Osteochondrodysplasia | Enrichment | COL1A2 | 1.31 |
| 154 | Lung non-small cell carcinoma | Enrichment | ERBB2 | 1.31 |
| 155 | Uterine corpus cancer | Enrichment | BRCA1 | 1.31 |
| 156 | Specific learning disability | Enrichment | DNMT3A | 1.31 |
| 157 | Osteogenesis imperfecta, type iv | Enrichment | COL1A2 | 1.24 |
| 158 | Neural tube defects | Enrichment | ITGB1 | 1.24 |
| 159 | Breast-ovarian cancer, familial 1 | Enrichment | BRCA1 | 1.24 |
| 160 | Multiple sclerosis | Enrichment | ITGB4 | 1.21 |
| 161 | Osteoporosis | Enrichment | COL1A2 | 1.21 |
| 162 | Pheochromocytoma | Enrichment | MAX | 1.21 |
| 163 | Lung cancer susceptibility 3 | Enrichment | ERBB2 | 1.21 |
| 164 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.21 |
| 165 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.18 |
| 166 | Osteogenesis imperfecta, type iii | Enrichment | COL1A2 | 1.18 |
| 167 | Hydrocephalus | Enrichment | PDGFRB | 1.18 |
| 168 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 1.18 |
| 169 | Rhabdomyosarcoma | Enrichment | BRCA1 | 1.15 |
| 170 | Gliosarcoma | Enrichment | DNMT3A | 1.15 |
| 171 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2B | 1.13 |
| 172 | Dandy-walker syndrome | Enrichment | PDGFRB | 1.13 |
| 173 | Giant cell glioblastoma | Enrichment | DNMT3A | 1.13 |
| 174 | Human immunodeficiency virus type 1 | Enrichment | CCL5 | 1.10 |
| 175 | Charcot-marie-tooth disease type 4 | Enrichment | NDRG1 | 1.10 |
| 176 | Diffuse large b-cell lymphoma | Enrichment | DNMT3A | 1.08 |
| 177 | Esophageal atresia/tracheoesophageal fistula | Enrichment | IRF8 | 1.08 |
| 178 | Ehlers-danlos syndrome | Enrichment | COL1A2 | 1.08 |
| 179 | Parkinson's disease | Enrichment | TBP | 1.08 |
| 180 | Congenital nervous system abnormality | Enrichment | DNMT3A, TSC2 | 1.07 |
| 181 | Nervous system disease | Enrichment | DNMT3A, TSC2 | 1.07 |
| 182 | Autism spectrum disorder | Enrichment | DNMT3A, TSC2 | 1.05 |
| 183 | Endometrial cancer | Enrichment | BRCA1 | 1.04 |
| 184 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | MAX | 1.04 |
| 185 | Skin disease | Enrichment | ITGB4 | 1.02 |
| 186 | Brittle bone disorder | Enrichment | COL1A2 | 1.00 |
| 187 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 1.00 |
| 188 | Parkinson disease, late-onset | Enrichment | TBP | 0.98 |
| 189 | Hirschsprung disease 1 | Enrichment | ERBB2 | 0.90 |
| 190 | Prostate cancer | Enrichment | BRCA1 | 0.90 |
| 191 | Cystic fibrosis | Enrichment | SLC11A1 | 0.86 |
| 192 | Fanconi anemia, complementation group a | Enrichment | BRCA1 | 0.83 |
| 193 | Cerebral palsy | Enrichment | PDGFRB | 0.79 |
| 194 | Charcot-marie-tooth disease | Enrichment | NDRG1 | 0.77 |
| 195 | Optic atrophy plus syndrome | Enrichment | TMEM126A | 0.74 |
| 196 | West syndrome | Enrichment | TSC2 | 0.74 |
| 197 | Hereditary breast carcinoma | Enrichment | BRCA1 | 0.74 |
| 198 | Thrombocytopenia | Enrichment | SMAD4 | 0.70 |
| 199 | Body mass index quantitative trait locus 11 | Enrichment | DNMT3A | 0.69 |
| 200 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | TJP2 | 0.67 |
| 201 | Hereditary breast ovarian cancer syndrome | Enrichment | BRCA1 | 0.65 |
| 202 | Microcephaly | Enrichment | EP300 | 0.36 |
| 203 | Hereditary retinal dystrophy | Enrichment | FTH1 | 0.13 |
| 204 | Fundus dystrophy | Enrichment | FTH1 | 0.13 |