| 1 | Autosomal dominant secondary polycythemia | Enrichment | EGLN1, EPO | 3.97 |
| 2 | Anemia, congenital, nonspherocytic hemolytic, 5 | Enrichment | HK1 | 2.56 |
| 3 | Phosphoglycerate kinase 1 deficiency | Enrichment | PGK1 | 2.56 |
| 4 | Stomatin-deficient cryohydrocytosis with neurologic defects | Enrichment | SLC2A1 | 2.56 |
| 5 | Erythrocyte lactate transporter defect | Enrichment | SLC16A1 | 2.56 |
| 6 | Microvascular complications of diabetes 2 | Enrichment | EPO | 2.56 |
| 7 | Retinitis pigmentosa 79 | Enrichment | HK1 | 2.56 |
| 8 | Angioedema, hereditary, 5 | Enrichment | ANGPT1 | 2.56 |
| 9 | Auriculocondylar syndrome 3 | Enrichment | EDN1 | 2.56 |
| 10 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.56 |
| 11 | Papilloma of choroid plexus | Enrichment | TP53 | 2.56 |
| 12 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.56 |
| 13 | Hemoglobin, high altitude adaptation | Enrichment | EGLN1 | 2.56 |
| 14 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.56 |
| 15 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.56 |
| 16 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.56 |
| 17 | Question mark ears, isolated | Enrichment | EDN1 | 2.56 |
| 18 | Neuropathy, hereditary motor and sensory, russe type | Enrichment | HK1 | 2.56 |
| 19 | Neurodevelopmental disorder with visual defects and brain anomalies | Enrichment | HK1 | 2.56 |
| 20 | Epilepsy, idiopathic generalized 12 | Enrichment | SLC2A1 | 2.56 |
| 21 | Ductal carcinoma in situ | Enrichment | TP53 | 2.56 |
| 22 | Erythrocytosis, familial, 5 | Enrichment | EPO | 2.56 |
| 23 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.56 |
| 24 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.56 |
| 25 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.56 |
| 26 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.56 |
| 27 | Choroid plexus cancer | Enrichment | TP53 | 2.56 |
| 28 | Epilepsy with myoclonic absences | Enrichment | SLC2A1 | 2.56 |
| 29 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.56 |
| 30 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.56 |
| 31 | Male infertility due to obstructive azoospermia | Enrichment | PGK1 | 2.56 |
| 32 | Hereditary cryohydrocytosis with reduced stomatin | Enrichment | SLC2A1 | 2.56 |
| 33 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.26 |
| 34 | Fanconi-bickel syndrome | Enrichment | LDHA | 2.26 |
| 35 | Dystonia 9 | Enrichment | SLC2A1 | 2.26 |
| 36 | Cervical cancer | Enrichment | TP53 | 2.26 |
| 37 | Glut1 deficiency syndrome 1 | Enrichment | SLC2A1 | 2.26 |
| 38 | Monocarboxylate transporter 1 deficiency | Enrichment | SLC16A1 | 2.26 |
| 39 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.26 |
| 40 | Diamond-blackfan anemia-like | Enrichment | EPO | 2.26 |
| 41 | Glucose transporter type 1 deficiency syndrome | Enrichment | SLC2A1 | 2.26 |
| 42 | Erythrocytosis, familial, 3 | Enrichment | EGLN1 | 2.26 |
| 43 | Congenital fibrosarcoma | Enrichment | TP53 | 2.26 |
| 44 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.26 |
| 45 | Sarcoma | Enrichment | TP53 | 2.26 |
| 46 | Hyperinsulinemic hypoglycemia, familial, 7 | Enrichment | SLC16A1 | 2.26 |
| 47 | Loeys-dietz syndrome 4 | Enrichment | TGFB3 | 2.26 |
| 48 | Cervix carcinoma | Enrichment | TP53 | 2.26 |
| 49 | Hodgkin's lymphoma | Enrichment | TP53 | 2.26 |
| 50 | Lymphatic malformation 10 | Enrichment | ANGPT2 | 2.26 |
| 51 | Ketoacidosis due to monocarboxylate transporter-1 deficiency | Enrichment | SLC16A1 | 2.26 |
| 52 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.26 |
| 53 | Osteogenic sarcoma | Enrichment | TP53 | 2.09 |
| 54 | Glut1 deficiency syndrome 2 | Enrichment | SLC2A1 | 2.09 |
| 55 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.09 |
| 56 | Chromosome 17q23.1-q23.2 deletion syndrome | Enrichment | SLC2A1 | 2.09 |
| 57 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.09 |
| 58 | Anaplastic astrocytoma | Enrichment | TP53 | 2.09 |
| 59 | Squamous cell carcinoma | Enrichment | TP53 | 2.09 |
| 60 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 2.09 |
| 61 | Adenocarcinoma | Enrichment | TP53 | 2.09 |
| 62 | Bone osteosarcoma | Enrichment | TP53 | 2.09 |
| 63 | Enchondromatosis | Enrichment | HIF1A | 2.09 |
| 64 | Huntington disease | Enrichment | SLC2A3 | 1.96 |
| 65 | Small cell cancer of the lung | Enrichment | TP53 | 1.96 |
| 66 | Pyruvate dehydrogenase e1-alpha deficiency | Enrichment | PDHA1 | 1.96 |
| 67 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.96 |
| 68 | Auriculocondylar syndrome 1 | Enrichment | EDN1 | 1.96 |
| 69 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.96 |
| 70 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.96 |
| 71 | Hereditary angioedema with normal c1inh not related to f12 or plg variant | Enrichment | ANGPT1 | 1.96 |
| 72 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1 | 1.96 |
| 73 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.87 |
| 74 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.87 |
| 75 | Microcephaly 1, primary, autosomal recessive | Enrichment | ANGPT2 | 1.87 |
| 76 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.87 |
| 77 | Lymphoma | Enrichment | TP53 | 1.87 |
| 78 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.87 |
| 79 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.87 |
| 80 | Li-fraumeni syndrome | Enrichment | TP53 | 1.79 |
| 81 | Adrenocortical carcinoma | Enrichment | TP53 | 1.79 |
| 82 | Breast adenocarcinoma | Enrichment | TP53 | 1.79 |
| 83 | Esophageal cancer | Enrichment | TP53 | 1.72 |
| 84 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.72 |
| 85 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.72 |
| 86 | Essential thrombocythemia | Enrichment | TP53 | 1.72 |
| 87 | Gallbladder cancer | Enrichment | TP53 | 1.72 |
| 88 | Paroxysmal dystonia | Enrichment | SLC2A1 | 1.72 |
| 89 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.72 |
| 90 | Glioma susceptibility 1 | Enrichment | TP53 | 1.67 |
| 91 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.67 |
| 92 | Alternating hemiplegia of childhood | Enrichment | SLC2A1 | 1.67 |
| 93 | Colorectal cancer | Enrichment | BAX, TP53 | 1.63 |
| 94 | Myoclonic-atonic epilepsy | Enrichment | SLC2A1 | 1.61 |
| 95 | Loeys-dietz syndrome | Enrichment | TGFB3 | 1.61 |
| 96 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.61 |
| 97 | Primary hyperaldosteronism | Enrichment | TP53 | 1.61 |
| 98 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.57 |
| 99 | Familial colorectal cancer | Enrichment | TP53 | 1.57 |
| 100 | Myelodysplastic syndrome | Enrichment | TP53 | 1.53 |
| 101 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.49 |
| 102 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.49 |
| 103 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.49 |
| 104 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.43 |
| 105 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 1.43 |
| 106 | Rhabdomyosarcoma | Enrichment | TP53 | 1.37 |
| 107 | Gliosarcoma | Enrichment | TP53 | 1.37 |
| 108 | Sudden infant death syndrome | Enrichment | PDHA1 | 1.34 |
| 109 | Giant cell glioblastoma | Enrichment | TP53 | 1.34 |
| 110 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.30 |
| 111 | Hepatoblastoma | Enrichment | TP53 | 1.25 |
| 112 | Hepatocellular carcinoma | Enrichment | TP53 | 1.23 |
| 113 | Tooth agenesis | Enrichment | TGFA | 1.23 |
| 114 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.22 |
| 115 | Malaria | Enrichment | NOS2 | 1.22 |
| 116 | Pancreatic cancer | Enrichment | TP53 | 1.18 |
| 117 | Developmental and epileptic encephalopathy 1 | Enrichment | SLC2A1 | 1.18 |
| 118 | Strabismus | Enrichment | SLC2A1 | 1.15 |
| 119 | Bladder cancer | Enrichment | TP53 | 1.12 |
| 120 | Prostate cancer | Enrichment | TP53 | 1.12 |
| 121 | Non-immune hydrops fetalis | Enrichment | ANGPT2 | 1.09 |
| 122 | Primary autosomal recessive microcephaly | Enrichment | ANGPT2 | 1.08 |
| 123 | Diamond-blackfan anemia | Enrichment | TP53 | 1.03 |
| 124 | Leukemia, acute myeloid | Enrichment | TP53 | 0.98 |
| 125 | Epilepsy | Enrichment | SLC2A1 | 0.98 |
| 126 | Benign epilepsy with centrotemporal spikes | Enrichment | SLC2A1 | 0.97 |
| 127 | Centralopathic epilepsy | Enrichment | SLC2A1 | 0.95 |
| 128 | Gastric cancer | Enrichment | TP53 | 0.95 |
| 129 | West syndrome | Enrichment | SLC2A1 | 0.95 |
| 130 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | TGFB3 | 0.95 |
| 131 | Hereditary breast carcinoma | Enrichment | TP53 | 0.95 |
| 132 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.85 |
| 133 | Myeloma, multiple | Enrichment | TP53 | 0.85 |
| 134 | Breast cancer | Enrichment | TP53 | 0.73 |
| 135 | Ovarian cancer | Enrichment | TP53 | 0.62 |
| 136 | Autism spectrum disorder | Enrichment | HK1 | 0.59 |
| 137 | Microcephaly | Enrichment | SLC2A1 | 0.54 |
| 138 | Inherited cancer-predisposing syndrome | Enrichment | TP53 | 0.52 |
| 139 | Retinitis pigmentosa | Enrichment | HK1 | 0.35 |
| 140 | Hereditary retinal dystrophy | Enrichment | HK1 | 0.26 |
| 141 | Fundus dystrophy | Enrichment | HK1 | 0.26 |