| 1 | Pyruvate dehydrogenase e1-alpha deficiency | Enrichment | PDHA1, PDHX | 4.25 |
| 2 | Lung sarcomatoid carcinoma | Enrichment | KRAS, TP53 | 4.25 |
| 3 | Breast adenocarcinoma | Enrichment | KRAS, TP53 | 3.86 |
| 4 | Gallbladder cancer | Enrichment | KRAS, TP53 | 3.71 |
| 5 | Lung cancer susceptibility 3 | Enrichment | KRAS, TP53 | 3.08 |
| 6 | Pancreatic cancer | Enrichment | KRAS, TP53 | 2.57 |
| 7 | Anemia, congenital, nonspherocytic hemolytic, 5 | Enrichment | HK1 | 2.51 |
| 8 | Oculoectodermal syndrome | Enrichment | KRAS | 2.51 |
| 9 | Stomatin-deficient cryohydrocytosis with neurologic defects | Enrichment | SLC2A1 | 2.51 |
| 10 | Erythrocyte lactate transporter defect | Enrichment | SLC16A1 | 2.51 |
| 11 | Retinitis pigmentosa 79 | Enrichment | HK1 | 2.51 |
| 12 | Hypervalinemia and hyperleucine-isoleucinemia | Enrichment | BCAT2 | 2.51 |
| 13 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.51 |
| 14 | Papilloma of choroid plexus | Enrichment | TP53 | 2.51 |
| 15 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.51 |
| 16 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.51 |
| 17 | Ribose 5-phosphate isomerase deficiency | Enrichment | RPIA | 2.51 |
| 18 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.51 |
| 19 | Rhizomelic dysplasia, ain-naz type | Enrichment | GNPNAT1 | 2.51 |
| 20 | Hyperinsulinemic hypoglycemia, familial, 6 | Enrichment | GLUD1 | 2.51 |
| 21 | Neuropathy, hereditary motor and sensory, russe type | Enrichment | HK1 | 2.51 |
| 22 | Neurodevelopmental disorder with visual defects and brain anomalies | Enrichment | HK1 | 2.51 |
| 23 | Aspartate aminotransferase, serum level of, quantitative trait locus 1 | Enrichment | GOT1 | 2.51 |
| 24 | Epilepsy, idiopathic generalized 12 | Enrichment | SLC2A1 | 2.51 |
| 25 | Anemia, congenital, nonspherocytic hemolytic, 4 | Enrichment | GPI | 2.51 |
| 26 | Ductal carcinoma in situ | Enrichment | TP53 | 2.51 |
| 27 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.51 |
| 28 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.51 |
| 29 | Low density lipoprotein cholesterol level quantitative trait locus 3 | Enrichment | HMGCR | 2.51 |
| 30 | Muscular dystrophy, limb-girdle, autosomal recessive 28 | Enrichment | HMGCR | 2.51 |
| 31 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.51 |
| 32 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.51 |
| 33 | Choroid plexus cancer | Enrichment | TP53 | 2.51 |
| 34 | Epilepsy with myoclonic absences | Enrichment | SLC2A1 | 2.51 |
| 35 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.51 |
| 36 | Hereditary cryohydrocytosis with reduced stomatin | Enrichment | SLC2A1 | 2.51 |
| 37 | Bladder cancer | Enrichment | KRAS, TP53 | 2.44 |
| 38 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.21 |
| 39 | Fanconi-bickel syndrome | Enrichment | LDHA | 2.21 |
| 40 | Dihydrolipoamide dehydrogenase deficiency | Enrichment | DLD | 2.21 |
| 41 | Dystonia 9 | Enrichment | SLC2A1 | 2.21 |
| 42 | Cervical cancer | Enrichment | TP53 | 2.21 |
| 43 | Glut1 deficiency syndrome 1 | Enrichment | SLC2A1 | 2.21 |
| 44 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.21 |
| 45 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS | 2.21 |
| 46 | Monocarboxylate transporter 1 deficiency | Enrichment | SLC16A1 | 2.21 |
| 47 | Methemoglobinemia due to deficiency of methemoglobin reductase | Enrichment | DLD | 2.21 |
| 48 | Pyruvate dehydrogenase e2 deficiency | Enrichment | DLAT | 2.21 |
| 49 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.21 |
| 50 | Pyruvate dehydrogenase e1-beta deficiency | Enrichment | PDHB | 2.21 |
| 51 | Myasthenic syndrome, congenital, 12 | Enrichment | GFPT1 | 2.21 |
| 52 | Pyruvate dehydrogenase e3-binding protein deficiency | Enrichment | PDHX | 2.21 |
| 53 | Developmental and epileptic encephalopathy 82 | Enrichment | GOT2 | 2.21 |
| 54 | Immunodeficiency 23 | Enrichment | PGM3 | 2.21 |
| 55 | Developmental and epileptic encephalopathy 88 | Enrichment | MDH1 | 2.21 |
| 56 | Hyperlipoproteinemia, type iii | Enrichment | LDLR | 2.21 |
| 57 | 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency | Enrichment | HMGCS2 | 2.21 |
| 58 | Glucose transporter type 1 deficiency syndrome | Enrichment | SLC2A1 | 2.21 |
| 59 | Congenital fibrosarcoma | Enrichment | TP53 | 2.21 |
| 60 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.21 |
| 61 | Sarcoma | Enrichment | TP53 | 2.21 |
| 62 | Hyperinsulinemic hypoglycemia, familial, 7 | Enrichment | SLC16A1 | 2.21 |
| 63 | Cervix carcinoma | Enrichment | TP53 | 2.21 |
| 64 | Hodgkin's lymphoma | Enrichment | TP53 | 2.21 |
| 65 | Ketoacidosis due to monocarboxylate transporter-1 deficiency | Enrichment | SLC16A1 | 2.21 |
| 66 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.21 |
| 67 | Leukemia, acute myeloid | Enrichment | KRAS, TP53 | 2.17 |
| 68 | Gastric cancer | Enrichment | KRAS, TP53 | 2.11 |
| 69 | Hereditary breast carcinoma | Enrichment | KRAS, TP53 | 2.09 |
| 70 | Hypercholesterolemia, familial, 2 | Enrichment | LDLR | 2.03 |
| 71 | Maple syrup urine disease, type ia | Enrichment | BCKDHA | 2.03 |
| 72 | Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia | Enrichment | LDLR | 2.03 |
| 73 | Osteogenic sarcoma | Enrichment | TP53 | 2.03 |
| 74 | Glut1 deficiency syndrome 2 | Enrichment | SLC2A1 | 2.03 |
| 75 | Hypercholesterolemia, familial, 4 | Enrichment | LDLR | 2.03 |
| 76 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.03 |
| 77 | Hyper ige syndrome | Enrichment | PGM3 | 2.03 |
| 78 | Chromosome 17q23.1-q23.2 deletion syndrome | Enrichment | SLC2A1 | 2.03 |
| 79 | Syndromic x-linked intellectual disability najm type | Enrichment | LDLR | 2.03 |
| 80 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.03 |
| 81 | Anaplastic astrocytoma | Enrichment | TP53 | 2.03 |
| 82 | Squamous cell carcinoma | Enrichment | TP53 | 2.03 |
| 83 | Adenocarcinoma | Enrichment | TP53 | 2.03 |
| 84 | Bone osteosarcoma | Enrichment | TP53 | 2.03 |
| 85 | Intermittent maple syrup urine disease | Enrichment | BCKDHA | 2.03 |
| 86 | Classic maple syrup urine disease | Enrichment | BCKDHA | 2.03 |
| 87 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | KRAS | 1.91 |
| 88 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 1.91 |
| 89 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.91 |
| 90 | Small cell cancer of the lung | Enrichment | TP53 | 1.91 |
| 91 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.91 |
| 92 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 1.91 |
| 93 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS | 1.91 |
| 94 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.91 |
| 95 | Pilocytic astrocytoma | Enrichment | KRAS | 1.91 |
| 96 | Intermediate maple syrup urine disease | Enrichment | BCKDHA | 1.91 |
| 97 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, TP53 | 1.90 |
| 98 | Myeloma, multiple | Enrichment | KRAS, TP53 | 1.89 |
| 99 | Hyperlipidemia, familial combined, 3 | Enrichment | LDLR | 1.81 |
| 100 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.81 |
| 101 | Lymphoma | Enrichment | TP53 | 1.81 |
| 102 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.81 |
| 103 | Congenital myasthenic syndromes with glycosylation defect | Enrichment | GFPT1 | 1.81 |
| 104 | Li-fraumeni syndrome | Enrichment | TP53 | 1.73 |
| 105 | Cowden syndrome 1 | Enrichment | LDLR | 1.73 |
| 106 | Hyperinsulinemic hypoglycemia, familial, 1 | Enrichment | GLUD1 | 1.73 |
| 107 | Lipid metabolism disorder | Enrichment | LDLR | 1.73 |
| 108 | Adrenocortical carcinoma | Enrichment | TP53 | 1.73 |
| 109 | Hereditary spherocytosis | Enrichment | GPI | 1.73 |
| 110 | Lung squamous cell carcinoma | Enrichment | KRAS | 1.73 |
| 111 | Nonsyndromic genetic hyperinsulinism | Enrichment | GLUD1 | 1.73 |
| 112 | Esophageal cancer | Enrichment | TP53 | 1.67 |
| 113 | Nevus, epidermal | Enrichment | KRAS | 1.67 |
| 114 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.67 |
| 115 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS | 1.67 |
| 116 | Leukemia, chronic myeloid | Enrichment | KRAS | 1.67 |
| 117 | Noonan syndrome 3 | Enrichment | KRAS | 1.67 |
| 118 | Essential thrombocythemia | Enrichment | TP53 | 1.67 |
| 119 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.67 |
| 120 | Hemolytic anemia | Enrichment | GPI | 1.67 |
| 121 | Paroxysmal dystonia | Enrichment | SLC2A1 | 1.67 |
| 122 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.67 |
| 123 | Breast cancer | Enrichment | KRAS, TP53 | 1.65 |
| 124 | Glioma susceptibility 1 | Enrichment | TP53 | 1.61 |
| 125 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.61 |
| 126 | Alternating hemiplegia of childhood | Enrichment | SLC2A1 | 1.61 |
| 127 | Homozygous familial hypercholesterolemia | Enrichment | LDLR | 1.61 |
| 128 | Coronary heart disease 5 | Enrichment | LDLR | 1.56 |
| 129 | Myoclonic-atonic epilepsy | Enrichment | SLC2A1 | 1.56 |
| 130 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.56 |
| 131 | Primary hyperaldosteronism | Enrichment | TP53 | 1.56 |
| 132 | Limb-girdle muscular dystrophy | Enrichment | HMGCR | 1.56 |
| 133 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.52 |
| 134 | Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency | Enrichment | GFPT1 | 1.52 |
| 135 | Familial colorectal cancer | Enrichment | TP53 | 1.52 |
| 136 | Myelodysplastic syndrome | Enrichment | TP53 | 1.47 |
| 137 | Lung non-small cell carcinoma | Enrichment | KRAS | 1.47 |
| 138 | Juvenile myelomonocytic leukemia | Enrichment | KRAS | 1.44 |
| 139 | Lactic acidosis | Enrichment | DLD | 1.44 |
| 140 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.44 |
| 141 | Ovarian cancer | Enrichment | KRAS, TP53 | 1.41 |
| 142 | Hypercholesterolemia, familial, 1 | Enrichment | LDLR | 1.40 |
| 143 | Congenital myasthenic syndrome | Enrichment | GFPT1 | 1.37 |
| 144 | Familial hypercholesterolemia | Enrichment | LDLR | 1.34 |
| 145 | Lynch syndrome | Enrichment | KRAS | 1.34 |
| 146 | Noonan syndrome and noonan-related syndrome | Enrichment | KRAS | 1.34 |
| 147 | Rhabdomyosarcoma | Enrichment | TP53 | 1.31 |
| 148 | Gliosarcoma | Enrichment | TP53 | 1.31 |
| 149 | Sudden infant death syndrome | Enrichment | PDHA1 | 1.29 |
| 150 | Giant cell glioblastoma | Enrichment | TP53 | 1.29 |
| 151 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.24 |
| 152 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.24 |
| 153 | Hepatoblastoma | Enrichment | TP53 | 1.20 |
| 154 | Hepatocellular carcinoma | Enrichment | TP53 | 1.18 |
| 155 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.16 |
| 156 | Noonan syndrome 1 | Enrichment | KRAS | 1.16 |
| 157 | Developmental and epileptic encephalopathy 1 | Enrichment | SLC2A1 | 1.13 |
| 158 | Rasopathy | Enrichment | KRAS | 1.11 |
| 159 | Strabismus | Enrichment | SLC2A1 | 1.09 |
| 160 | Prostate cancer | Enrichment | TP53 | 1.07 |
| 161 | Differentiated thyroid carcinoma | Enrichment | KRAS | 1.07 |
| 162 | Non-immune hydrops fetalis | Enrichment | KRAS | 1.04 |
| 163 | Lung cancer | Enrichment | KRAS | 1.02 |
| 164 | Severe combined immunodeficiency | Enrichment | PGM3 | 1.01 |
| 165 | Developmental and epileptic encephalopathy | Enrichment | GOT2 | 0.98 |
| 166 | Diamond-blackfan anemia | Enrichment | TP53 | 0.98 |
| 167 | Epilepsy | Enrichment | SLC2A1 | 0.93 |
| 168 | Benign epilepsy with centrotemporal spikes | Enrichment | SLC2A1 | 0.92 |
| 169 | Centralopathic epilepsy | Enrichment | SLC2A1 | 0.90 |
| 170 | West syndrome | Enrichment | SLC2A1 | 0.89 |
| 171 | Colorectal cancer | Enrichment | TP53 | 0.63 |
| 172 | Mitochondrial disease | Enrichment | PDHX | 0.63 |
| 173 | Autism spectrum disorder | Enrichment | HK1 | 0.54 |
| 174 | Microcephaly | Enrichment | SLC2A1 | 0.50 |
| 175 | Inherited cancer-predisposing syndrome | Enrichment | TP53 | 0.47 |
| 176 | Retinitis pigmentosa | Enrichment | HK1 | 0.31 |
| 177 | Hereditary retinal dystrophy | Enrichment | HK1 | 0.22 |
| 178 | Fundus dystrophy | Enrichment | HK1 | 0.22 |