| 1 | Hyperostosis cranialis interna | Enrichment | SLC39A14 | 2.33 |
| 2 | Cystathioninuria | Enrichment | CTH | 2.33 |
| 3 | Glutathione synthetase deficiency | Enrichment | GSS | 2.33 |
| 4 | Fatal familial insomnia | Enrichment | PRNP | 2.33 |
| 5 | Immunodeficiency 34 | Enrichment | CYBB | 2.33 |
| 6 | Intellectual developmental disorder, x-linked 63 | Enrichment | ACSL4 | 2.33 |
| 7 | Aceruloplasminemia | Enrichment | CP | 2.33 |
| 8 | Neurodegeneration with brain iron accumulation 3 | Enrichment | FTL | 2.33 |
| 9 | Glycogen storage disease ixc | Enrichment | PHKG2 | 2.33 |
| 10 | Gerstmann-straussler disease | Enrichment | PRNP | 2.33 |
| 11 | Anemia, congenital, nonspherocytic hemolytic, 6 | Enrichment | GSS | 2.33 |
| 12 | Spondylometaphyseal dysplasia, sedaghatian type | Enrichment | GPX4 | 2.33 |
| 13 | Anemia, congenital, nonspherocytic hemolytic, 7 | Enrichment | GCLC | 2.33 |
| 14 | Kuru | Enrichment | PRNP | 2.33 |
| 15 | Anemia, hypochromic microcytic, with iron overload 1 | Enrichment | SLC11A2 | 2.33 |
| 16 | Atransferrinemia | Enrichment | TF | 2.33 |
| 17 | Spinocerebellar ataxia, autosomal recessive 25 | Enrichment | ATG5 | 2.33 |
| 18 | Diarrhea 13 | Enrichment | ACSL5 | 2.33 |
| 19 | Brachycephaly, deafness, cataract, microstomia, and impaired intellectual development | Enrichment | POR | 2.33 |
| 20 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.33 |
| 21 | Spongiform encephalopathy with neuropsychiatric features | Enrichment | PRNP | 2.33 |
| 22 | Hyperhomocysteinemia | Enrichment | CBS | 2.33 |
| 23 | Papilloma of choroid plexus | Enrichment | TP53 | 2.33 |
| 24 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.33 |
| 25 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.33 |
| 26 | Huntington disease-like 1 | Enrichment | PRNP | 2.33 |
| 27 | Hemochromatosis, type 4 | Enrichment | SLC40A1 | 2.33 |
| 28 | Charcot-marie-tooth disease, axonal, type 2f | Enrichment | HSPB1 | 2.33 |
| 29 | Familial alzheimer-like prion disease | Enrichment | PRNP | 2.33 |
| 30 | Immunodeficiency 46 | Enrichment | TFRC | 2.33 |
| 31 | L-ferritin deficiency | Enrichment | FTL | 2.33 |
| 32 | Ductal carcinoma in situ | Enrichment | TP53 | 2.33 |
| 33 | Heme oxygenase 1 deficiency | Enrichment | HMOX1 | 2.33 |
| 34 | Hypermanganesemia with dystonia 2 | Enrichment | SLC39A14 | 2.33 |
| 35 | Prion disease | Enrichment | PRNP | 2.33 |
| 36 | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | Enrichment | IREB2 | 2.33 |
| 37 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.33 |
| 38 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.33 |
| 39 | Low density lipoprotein cholesterol level quantitative trait locus 3 | Enrichment | HMGCR | 2.33 |
| 40 | Muscular dystrophy, limb-girdle, autosomal recessive 28 | Enrichment | HMGCR | 2.33 |
| 41 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.33 |
| 42 | Genetic hyperferritinemia without iron overload | Enrichment | FTL | 2.33 |
| 43 | Choroid plexus cancer | Enrichment | TP53 | 2.33 |
| 44 | Prp systemic amyloidosis | Enrichment | PRNP | 2.33 |
| 45 | Inherited human prion disease | Enrichment | PRNP | 2.33 |
| 46 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.33 |
| 47 | Multiple system atrophy, parkinsonian type | Enrichment | COQ2 | 2.33 |
| 48 | Inherited creutzfeldt-jakob disease | Enrichment | PRNP | 2.33 |
| 49 | Myocardial infarction | Enrichment | GCLC, GCLM | 2.32 |
| 50 | Multiple system atrophy 1 | Enrichment | COQ2 | 2.03 |
| 51 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.03 |
| 52 | Vitreoretinochoroidopathy | Enrichment | FTH1 | 2.03 |
| 53 | Antley-bixler syndrome with genital anomalies and disordered steroidogenesis | Enrichment | POR | 2.03 |
| 54 | Cervical cancer | Enrichment | TP53 | 2.03 |
| 55 | Retinitis pigmentosa 50 | Enrichment | FTH1 | 2.03 |
| 56 | Creutzfeldt-jakob disease | Enrichment | PRNP | 2.03 |
| 57 | Neuronopathy, distal hereditary motor, autosomal dominant 3 | Enrichment | HSPB1 | 2.03 |
| 58 | Anemia, hypochromic microcytic, with iron overload 2 | Enrichment | STEAP3 | 2.03 |
| 59 | Fatty liver disease 1 | Enrichment | ATG7 | 2.03 |
| 60 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.03 |
| 61 | Albinism, oculocutaneous, type ia | Enrichment | NOX4 | 2.03 |
| 62 | Hermansky-pudlak syndrome 3 | Enrichment | CP | 2.03 |
| 63 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | POR | 2.03 |
| 64 | Hyperferritinemia with or without cataract | Enrichment | FTL | 2.03 |
| 65 | Squalene synthase deficiency | Enrichment | FDFT1 | 2.03 |
| 66 | Hemochromatosis, type 5 | Enrichment | FTH1 | 2.03 |
| 67 | Spinocerebellar ataxia, autosomal recessive 31 | Enrichment | ATG7 | 2.03 |
| 68 | Congenital fibrosarcoma | Enrichment | TP53 | 2.03 |
| 69 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.03 |
| 70 | Sarcoma | Enrichment | TP53 | 2.03 |
| 71 | Cic-rearranged sarcoma | Enrichment | AKR1C2 | 2.03 |
| 72 | Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency | Enrichment | POR | 2.03 |
| 73 | Cervix carcinoma | Enrichment | TP53 | 2.03 |
| 74 | Hodgkin's lymphoma | Enrichment | TP53 | 2.03 |
| 75 | Cytochrome p450 oxidoreductase deficiency | Enrichment | POR | 2.03 |
| 76 | Glycogen storage disease due to liver phosphorylase kinase deficiency | Enrichment | PHKG2 | 2.03 |
| 77 | Neurodegeneration with brain iron accumulation 9 | Enrichment | FTH1 | 2.03 |
| 78 | Multiple system atrophy | Enrichment | COQ2 | 2.03 |
| 79 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.03 |
| 80 | Multiple system atrophy, cerebellar type | Enrichment | COQ2 | 2.03 |
| 81 | Cystic fibrosis | Enrichment | GCLC, HMOX1 | 2.00 |
| 82 | Dystonia, dopa-responsive | Enrichment | GCH1 | 1.85 |
| 83 | Homocystinuria due to cystathionine beta-synthase deficiency | Enrichment | CBS | 1.85 |
| 84 | Hyperphenylalaninemia, bh4-deficient, b | Enrichment | GCH1 | 1.85 |
| 85 | Osteogenic sarcoma | Enrichment | TP53 | 1.85 |
| 86 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.85 |
| 87 | Coenzyme q10 deficiency, primary, 1 | Enrichment | COQ2 | 1.85 |
| 88 | 46,xy sex reversal 8 | Enrichment | AKR1C2 | 1.85 |
| 89 | Congenital disorder of glycosylation, type iin | Enrichment | SLC39A8 | 1.85 |
| 90 | Keratosis follicularis spinulosa decalvans | Enrichment | SAT1 | 1.85 |
| 91 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.85 |
| 92 | Anaplastic astrocytoma | Enrichment | TP53 | 1.85 |
| 93 | Squamous cell carcinoma | Enrichment | TP53 | 1.85 |
| 94 | Adenocarcinoma | Enrichment | TP53 | 1.85 |
| 95 | Bone osteosarcoma | Enrichment | TP53 | 1.85 |
| 96 | Gtp cyclohydrolase 1-deficient dopa-responsive dystonia | Enrichment | GCH1 | 1.85 |
| 97 | Homocystinuria | Enrichment | CBS | 1.85 |
| 98 | Small cell cancer of the lung | Enrichment | TP53 | 1.73 |
| 99 | Granulomatous disease, chronic, x-linked | Enrichment | CYBB | 1.73 |
| 100 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.73 |
| 101 | Frontotemporal dementia 2 | Enrichment | PRNP | 1.73 |
| 102 | Amme complex | Enrichment | ACSL4 | 1.73 |
| 103 | Bestrophinopathy, autosomal recessive | Enrichment | FTH1 | 1.73 |
| 104 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.73 |
| 105 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.73 |
| 106 | Pediatric systemic lupus erythematosus | Enrichment | SAT1 | 1.73 |
| 107 | Macular dystrophy, vitelliform, 2 | Enrichment | FTH1 | 1.63 |
| 108 | Neuronopathy, distal hereditary motor, autosomal dominant 2 | Enrichment | HSPB1 | 1.63 |
| 109 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.63 |
| 110 | Lymphoma | Enrichment | TP53 | 1.63 |
| 111 | Phosphorylase kinase deficiency | Enrichment | PHKG2 | 1.63 |
| 112 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.63 |
| 113 | Sleep disorder | Enrichment | GCH1 | 1.63 |
| 114 | Developmental dysplasia of the hip 1 | Enrichment | AKR1C1 | 1.55 |
| 115 | Li-fraumeni syndrome | Enrichment | TP53 | 1.55 |
| 116 | Hyperphenylalaninemia, bh4-deficient, a | Enrichment | GCH1 | 1.55 |
| 117 | Adrenocortical carcinoma | Enrichment | TP53 | 1.55 |
| 118 | Breast adenocarcinoma | Enrichment | TP53 | 1.55 |
| 119 | Esophageal cancer | Enrichment | TP53 | 1.49 |
| 120 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.49 |
| 121 | Essential thrombocythemia | Enrichment | TP53 | 1.49 |
| 122 | Gallbladder cancer | Enrichment | TP53 | 1.49 |
| 123 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.49 |
| 124 | Glioma susceptibility 1 | Enrichment | TP53 | 1.43 |
| 125 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.43 |
| 126 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.38 |
| 127 | Chronic granulomatous disease | Enrichment | CYBB | 1.38 |
| 128 | Primary hyperaldosteronism | Enrichment | TP53 | 1.38 |
| 129 | Limb-girdle muscular dystrophy | Enrichment | HMGCR | 1.38 |
| 130 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.34 |
| 131 | Stroke, ischemic | Enrichment | ACSL4 | 1.34 |
| 132 | Neurodegeneration with brain iron accumulation | Enrichment | CP | 1.34 |
| 133 | Familial colorectal cancer | Enrichment | TP53 | 1.34 |
| 134 | Myelodysplastic syndrome | Enrichment | TP53 | 1.29 |
| 135 | Combined immunodeficiency | Enrichment | TFRC | 1.29 |
| 136 | Combined t cell and b cell immunodeficiency | Enrichment | TFRC | 1.29 |
| 137 | Combined t and b cell immunodeficiency | Enrichment | TFRC | 1.29 |
| 138 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.26 |
| 139 | Pulmonary disease, chronic obstructive | Enrichment | HMOX1 | 1.22 |
| 140 | Lipoid congenital adrenal hyperplasia | Enrichment | POR | 1.19 |
| 141 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.19 |
| 142 | Hermansky-pudlak syndrome | Enrichment | CP | 1.16 |
| 143 | Hermansky-pudlak syndrome 1 | Enrichment | CP | 1.14 |
| 144 | Rhabdomyosarcoma | Enrichment | TP53 | 1.14 |
| 145 | Gliosarcoma | Enrichment | TP53 | 1.14 |
| 146 | Giant cell glioblastoma | Enrichment | TP53 | 1.11 |
| 147 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.07 |
| 148 | Focal segmental glomerulosclerosis | Enrichment | COQ2 | 1.04 |
| 149 | Hepatoblastoma | Enrichment | TP53 | 1.02 |
| 150 | Hepatocellular carcinoma | Enrichment | TP53 | 1.00 |
| 151 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.99 |
| 152 | Pancreatic cancer | Enrichment | TP53 | 0.95 |
| 153 | Bladder cancer | Enrichment | TP53 | 0.89 |
| 154 | Prostate cancer | Enrichment | TP53 | 0.89 |
| 155 | Differentiated thyroid carcinoma | Enrichment | NCOA4 | 0.89 |
| 156 | Connective tissue disease | Enrichment | CBS | 0.85 |
| 157 | Dystonia | Enrichment | GCH1 | 0.82 |
| 158 | Non-syndromic x-linked intellectual disability | Enrichment | ACSL4 | 0.80 |
| 159 | Diamond-blackfan anemia | Enrichment | TP53 | 0.80 |
| 160 | Leukemia, acute myeloid | Enrichment | TP53 | 0.76 |
| 161 | Charcot-marie-tooth disease | Enrichment | HSPB1 | 0.75 |
| 162 | Gastric cancer | Enrichment | TP53 | 0.73 |
| 163 | Nephrotic syndrome | Enrichment | COQ2 | 0.73 |
| 164 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | CBS | 0.73 |
| 165 | Hereditary breast carcinoma | Enrichment | TP53 | 0.73 |
| 166 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.64 |
| 167 | Myeloma, multiple | Enrichment | TP53 | 0.63 |
| 168 | Primary ovarian insufficiency | Enrichment | POR | 0.61 |
| 169 | Breast cancer | Enrichment | TP53 | 0.52 |
| 170 | Colorectal cancer | Enrichment | TP53 | 0.47 |
| 171 | Ovarian cancer | Enrichment | TP53 | 0.42 |
| 172 | Inherited cancer-predisposing syndrome | Enrichment | TP53 | 0.33 |
| 173 | Hereditary retinal dystrophy | Enrichment | FTH1 | 0.12 |
| 174 | Fundus dystrophy | Enrichment | FTH1 | 0.12 |