| 1 | Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive | Enrichment | KRT14, KRT5 | 4.50 |
| 2 | Coffin-siris syndrome 1 | Enrichment | SMARCA4, SMARCC2, SMARCD1 | 4.12 |
| 3 | Epidermolysis bullosa simplex 1b, generalized intermediate | Enrichment | KRT14, KRT5 | 3.72 |
| 4 | Epidermolysis bullosa simplex generalized type | Enrichment | KRT14, KRT5 | 3.72 |
| 5 | Epidermolysis bullosa simplex 2f, with mottled pigmentation | Enrichment | KRT14, KRT5 | 3.50 |
| 6 | Epidermolysis bullosa simplex 1a, generalized severe | Enrichment | KRT14, KRT5 | 3.50 |
| 7 | Epidermolysis bullosa simplex 1c, localized | Enrichment | KRT14, KRT5 | 3.50 |
| 8 | Li-fraumeni syndrome | Enrichment | MDM2, TP53 | 3.33 |
| 9 | Breast adenocarcinoma | Enrichment | AKT1, TP53 | 3.33 |
| 10 | Epidermolysis bullosa simplex | Enrichment | KRT14, KRT5 | 3.18 |
| 11 | Breast cancer | Enrichment | AKT1, IL2, JUN, TP53 | 3.07 |
| 12 | Primary hyperaldosteronism | Enrichment | NR3C1, TP53 | 2.95 |
| 13 | Asthma | Enrichment | FKBP5, IL13 | 2.77 |
| 14 | Dermatopathia pigmentosa reticularis | Enrichment | KRT14 | 2.25 |
| 15 | Proteus syndrome | Enrichment | AKT1 | 2.25 |
| 16 | Pachyonychia congenita 2 | Enrichment | KRT17 | 2.25 |
| 17 | Naegeli-franceschetti-jadassohn syndrome | Enrichment | KRT14 | 2.25 |
| 18 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.25 |
| 19 | Accelerated tumor formation | Enrichment | MDM2 | 2.25 |
| 20 | Lissencephaly 7 with cerebellar hypoplasia | Enrichment | CDK5 | 2.25 |
| 21 | Steatocystoma multiplex | Enrichment | KRT17 | 2.25 |
| 22 | Coffin-siris syndrome 11 | Enrichment | SMARCD1 | 2.25 |
| 23 | Immunodeficiency 69 | Enrichment | IFNG | 2.25 |
| 24 | Agammaglobulinemia 10, autosomal dominant | Enrichment | SPI1 | 2.25 |
| 25 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.25 |
| 26 | Alpha-fetoprotein, hereditary persistence of | Enrichment | AFP | 2.25 |
| 27 | Hydrocephalus, congenital, 5 | Enrichment | SMARCC1 | 2.25 |
| 28 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Enrichment | PBX1 | 2.25 |
| 29 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.25 |
| 30 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.25 |
| 31 | Papilloma of choroid plexus | Enrichment | TP53 | 2.25 |
| 32 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.25 |
| 33 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.25 |
| 34 | Allergic rhinitis | Enrichment | IL13 | 2.25 |
| 35 | Immunodeficiency 31a | Enrichment | STAT1 | 2.25 |
| 36 | Cowden syndrome 6 | Enrichment | AKT1 | 2.25 |
| 37 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.25 |
| 38 | Alpha-fetoprotein deficiency | Enrichment | AFP | 2.25 |
| 39 | Immunodeficiency 31b | Enrichment | STAT1 | 2.25 |
| 40 | Ductal carcinoma in situ | Enrichment | TP53 | 2.25 |
| 41 | Intellectual developmental disorder, autosomal dominant 51 | Enrichment | KMT5B | 2.25 |
| 42 | Smarca4-deficient sarcoma of thorax | Enrichment | SMARCA4 | 2.25 |
| 43 | Ovarian small cell carcinoma | Enrichment | SMARCA4 | 2.25 |
| 44 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.25 |
| 45 | Immunodeficiency 88 | Enrichment | TBX21 | 2.25 |
| 46 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.25 |
| 47 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.25 |
| 48 | Congenital fibrinogen deficiency | Enrichment | FGG | 2.25 |
| 49 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.25 |
| 50 | Agammaglobulinemia | Enrichment | SPI1 | 2.25 |
| 51 | Choroid plexus cancer | Enrichment | TP53 | 2.25 |
| 52 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.25 |
| 53 | Skin disease | Enrichment | KRT14, KRT17 | 2.17 |
| 54 | Malaria | Enrichment | FCGR2A, ICAM1 | 2.13 |
| 55 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome | Enrichment | GATA3 | 1.95 |
| 56 | Alopecia, androgenetic, 1 | Enrichment | SMARCD1 | 1.95 |
| 57 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.95 |
| 58 | Galactosemia ii | Enrichment | NR3C1 | 1.95 |
| 59 | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | Enrichment | PCK2 | 1.95 |
| 60 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 1.95 |
| 61 | Cervical cancer | Enrichment | TP53 | 1.95 |
| 62 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.95 |
| 63 | Spinocerebellar ataxia 17 | Enrichment | TBP | 1.95 |
| 64 | Rhabdoid tumor predisposition syndrome 2 | Enrichment | SMARCA4 | 1.95 |
| 65 | Epidermolysis bullosa simplex 2e, with migratory circinate erythema | Enrichment | KRT5 | 1.95 |
| 66 | Pituitary hormone deficiency, combined or isolated, 1 | Enrichment | POU1F1 | 1.95 |
| 67 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.95 |
| 68 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.95 |
| 69 | Immunodeficiency 31c | Enrichment | STAT1 | 1.95 |
| 70 | Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive | Enrichment | KRT5 | 1.95 |
| 71 | Coffin-siris syndrome 8 | Enrichment | SMARCC2 | 1.95 |
| 72 | Sjogren-larsson syndrome | Enrichment | KRT14 | 1.95 |
| 73 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 1.95 |
| 74 | Leber congenital amaurosis 5 | Enrichment | POU1F1 | 1.95 |
| 75 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCA4 | 1.95 |
| 76 | Rela fusion-positive ependymoma | Enrichment | RELA | 1.95 |
| 77 | Recessive dystrophic epidermolysis bullosa | Enrichment | MMP1 | 1.95 |
| 78 | Congenital fibrosarcoma | Enrichment | TP53 | 1.95 |
| 79 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.95 |
| 80 | Sarcoma | Enrichment | TP53 | 1.95 |
| 81 | Fibrolamellar carcinoma | Enrichment | PRKACA | 1.95 |
| 82 | Otosclerosis 12 | Enrichment | SMARCA4 | 1.95 |
| 83 | Coffin-siris syndrome 4 | Enrichment | SMARCA4 | 1.95 |
| 84 | Cervix carcinoma | Enrichment | TP53 | 1.95 |
| 85 | Hodgkin's lymphoma | Enrichment | TP53 | 1.95 |
| 86 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | Enrichment | GATA3 | 1.95 |
| 87 | Hypoparathyroidism-deafness-renal disease syndrome | Enrichment | GATA3 | 1.95 |
| 88 | Epidermolysis bullosa simplex 2a, generalized severe | Enrichment | KRT5 | 1.95 |
| 89 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | Enrichment | PBX1 | 1.95 |
| 90 | Joint contractures, osteochondromas, and b-cell lymphoma | Enrichment | NFATC2 | 1.95 |
| 91 | Autosomal dominant nonsyndromic deafness | Enrichment | GATA3 | 1.95 |
| 92 | Immunodeficiency 117 | Enrichment | IRF1 | 1.95 |
| 93 | Renal hypoplasia, bilateral | Enrichment | PBX1 | 1.95 |
| 94 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.95 |
| 95 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.95 |
| 96 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 1.95 |
| 97 | Bladder cancer | Enrichment | CDKN1A, TP53 | 1.93 |
| 98 | Colorectal cancer | Enrichment | AKT1, BAX, TP53 | 1.88 |
| 99 | Asthma, nasal polyps, and aspirin intolerance | Enrichment | TBX21 | 1.77 |
| 100 | Nail disorder, nonsyndromic congenital, 4 | Enrichment | KRT17 | 1.77 |
| 101 | Tuberous sclerosis 1 | Enrichment | IFNG | 1.77 |
| 102 | Obesity, early-onset, with adrenal insufficiency and red hair | Enrichment | POMC | 1.77 |
| 103 | Osteogenic sarcoma | Enrichment | TP53 | 1.77 |
| 104 | Hepatitis c virus | Enrichment | IFNG | 1.77 |
| 105 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.77 |
| 106 | Tuberous sclerosis 2 | Enrichment | IFNG | 1.77 |
| 107 | Dysfibrinogenemia, congenital | Enrichment | FGG | 1.77 |
| 108 | Epidermolysis bullosa simplex 2b, generalized intermediate | Enrichment | KRT5 | 1.77 |
| 109 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 1.77 |
| 110 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.77 |
| 111 | Anaplastic astrocytoma | Enrichment | TP53 | 1.77 |
| 112 | Squamous cell carcinoma | Enrichment | TP53 | 1.77 |
| 113 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 1.77 |
| 114 | Adenocarcinoma | Enrichment | TP53 | 1.77 |
| 115 | Familial dysfibrinogenemia | Enrichment | FGG | 1.77 |
| 116 | End stage renal disease | Enrichment | GATA3 | 1.77 |
| 117 | Bone osteosarcoma | Enrichment | TP53 | 1.77 |
| 118 | Epidermolysis bullosa simplex 2c, localized | Enrichment | KRT5 | 1.77 |
| 119 | Phosphoenolpyruvate carboxykinase deficiency | Enrichment | PCK2 | 1.77 |
| 120 | Melanoma of soft tissue | Enrichment | CREB1 | 1.77 |
| 121 | Well-differentiated liposarcoma | Enrichment | MDM2 | 1.77 |
| 122 | Familial hypofibrinogenemia | Enrichment | FGG | 1.77 |
| 123 | Obesity due to pro-opiomelanocortin deficiency | Enrichment | POMC | 1.77 |
| 124 | Kaposi sarcoma | Enrichment | IL6 | 1.65 |
| 125 | Isolated growth hormone deficiency, type ii | Enrichment | POU1F1 | 1.65 |
| 126 | Dowling-degos disease 1 | Enrichment | KRT5 | 1.65 |
| 127 | Pachyonychia congenita 1 | Enrichment | KRT17 | 1.65 |
| 128 | Small cell cancer of the lung | Enrichment | TP53 | 1.65 |
| 129 | Afibrinogenemia, congenital | Enrichment | FGG | 1.65 |
| 130 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.65 |
| 131 | Tyrosinemia, type ii | Enrichment | TAT | 1.65 |
| 132 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.65 |
| 133 | Dowling-degos disease | Enrichment | KRT5 | 1.65 |
| 134 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.65 |
| 135 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.65 |
| 136 | Cerebral malaria | Enrichment | ICAM1 | 1.65 |
| 137 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.65 |
| 138 | Gastric cancer | Enrichment | IRF1, TP53 | 1.61 |
| 139 | Hereditary breast carcinoma | Enrichment | AKT1, TP53 | 1.59 |
| 140 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.55 |
| 141 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.55 |
| 142 | Major depressive disorder | Enrichment | FKBP5 | 1.55 |
| 143 | Lymphoma | Enrichment | TP53 | 1.55 |
| 144 | Epidermolysis bullosa | Enrichment | KRT5 | 1.55 |
| 145 | Histiocytoid hemangioma | Enrichment | FOS | 1.55 |
| 146 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.55 |
| 147 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | Enrichment | POU1F1 | 1.55 |
| 148 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.55 |
| 149 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.47 |
| 150 | Adrenocortical carcinoma | Enrichment | TP53 | 1.47 |
| 151 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.47 |
| 152 | Esophageal cancer | Enrichment | TP53 | 1.41 |
| 153 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.41 |
| 154 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.41 |
| 155 | Essential thrombocythemia | Enrichment | TP53 | 1.41 |
| 156 | Gallbladder cancer | Enrichment | TP53 | 1.41 |
| 157 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.41 |
| 158 | Congenital hydrocephalus | Enrichment | SMARCC1 | 1.41 |
| 159 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.41 |
| 160 | Myeloma, multiple | Enrichment | SGK1, TP53 | 1.40 |
| 161 | Glioma susceptibility 1 | Enrichment | TP53 | 1.35 |
| 162 | Spastic paraplegia 4, autosomal dominant | Enrichment | FGG | 1.35 |
| 163 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.35 |
| 164 | Neuroblastoma | Enrichment | SMARCA4 | 1.35 |
| 165 | Combined pituitary hormone deficiency | Enrichment | POU1F1 | 1.35 |
| 166 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.30 |
| 167 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.30 |
| 168 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.30 |
| 169 | Ventricular septal defect | Enrichment | SMARCA4 | 1.30 |
| 170 | Cowden syndrome | Enrichment | AKT1 | 1.30 |
| 171 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.26 |
| 172 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.26 |
| 173 | Aplastic anemia | Enrichment | IFNG | 1.26 |
| 174 | Familial colorectal cancer | Enrichment | TP53 | 1.26 |
| 175 | Autosomal non-syndromic agammaglobulinemia | Enrichment | SPI1 | 1.26 |
| 176 | Myelodysplastic syndrome | Enrichment | TP53 | 1.22 |
| 177 | Atrial heart septal defect | Enrichment | SMARCA4 | 1.22 |
| 178 | Lung non-small cell carcinoma | Enrichment | IRF1 | 1.22 |
| 179 | Interatrial communication | Enrichment | SMARCA4 | 1.22 |
| 180 | Meningioma | Enrichment | AKT1 | 1.18 |
| 181 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.18 |
| 182 | Hypercholesterolemia, familial, 1 | Enrichment | SMARCA4 | 1.15 |
| 183 | Neural tube defects | Enrichment | KMT5B | 1.15 |
| 184 | Acute promyelocytic leukemia | Enrichment | STAT5B | 1.15 |
| 185 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.12 |
| 186 | Familial hypercholesterolemia | Enrichment | SMARCA4 | 1.09 |
| 187 | Rhabdomyosarcoma | Enrichment | TP53 | 1.06 |
| 188 | Gliosarcoma | Enrichment | TP53 | 1.06 |
| 189 | Cleft palate, isolated | Enrichment | SMARCA4 | 1.03 |
| 190 | Giant cell glioblastoma | Enrichment | TP53 | 1.03 |
| 191 | Human immunodeficiency virus type 1 | Enrichment | IFNG | 1.01 |
| 192 | Arteriovenous malformations of the brain | Enrichment | IL6 | 0.99 |
| 193 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 0.99 |
| 194 | Parkinson's disease | Enrichment | TBP | 0.99 |
| 195 | Ovarian cancer | Enrichment | AKT1, TP53 | 0.95 |
| 196 | Cardiomyopathy, dilated, 1a | Enrichment | NFATC2 | 0.95 |
| 197 | Hepatoblastoma | Enrichment | TP53 | 0.95 |
| 198 | Hepatocellular carcinoma | Enrichment | TP53 | 0.93 |
| 199 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.91 |
| 200 | Autism spectrum disorder | Enrichment | KMT5B, PBX1 | 0.90 |
| 201 | Parkinson disease, late-onset | Enrichment | TBP | 0.89 |
| 202 | Pancreatic cancer | Enrichment | TP53 | 0.88 |
| 203 | Prostate cancer | Enrichment | TP53 | 0.82 |
| 204 | Lung cancer | Enrichment | IRF1 | 0.78 |
| 205 | Cystic fibrosis | Enrichment | FCGR2A | 0.78 |
| 206 | Inherited cancer-predisposing syndrome | Enrichment | SMARCA4, TP53 | 0.76 |
| 207 | Cakut | Enrichment | GATA3 | 0.75 |
| 208 | Diamond-blackfan anemia | Enrichment | TP53 | 0.73 |
| 209 | Systemic lupus erythematosus | Enrichment | FCGR2A | 0.70 |
| 210 | Cerebral palsy | Enrichment | SMARCA4 | 0.70 |
| 211 | Leukemia, acute myeloid | Enrichment | TP53 | 0.69 |
| 212 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.67 |
| 213 | Thrombocytopenia | Enrichment | FGG | 0.62 |
| 214 | Body mass index quantitative trait locus 11 | Enrichment | POMC | 0.61 |
| 215 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.57 |
| 216 | Primary ovarian insufficiency | Enrichment | AFP | 0.54 |