| 1 | Maturity-onset diabetes of the young, type 1 | Enrichment | GCK, HNF4A | 4.65 |
| 2 | Maturity-onset diabetes of the young, type 3 | Enrichment | GCK, HNF4A | 3.87 |
| 3 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | ENG, SMAD4 | 3.65 |
| 4 | Autosomal dominant secondary polycythemia | Enrichment | EGLN1, EPO | 3.48 |
| 5 | Hereditary hemorrhagic telangiectasia | Enrichment | ENG, SMAD4 | 3.33 |
| 6 | Leukemia, acute myeloid | Enrichment | GATA2, NPM1, TERT | 3.04 |
| 7 | Meningioma | Enrichment | AKT1, TERT | 2.84 |
| 8 | Dyskeratosis congenita | Enrichment | NPM1, TERT | 2.44 |
| 9 | Maturity-onset diabetes of the young | Enrichment | GCK, HNF4A | 2.39 |
| 10 | Proteus syndrome | Enrichment | AKT1 | 2.32 |
| 11 | Calcification of joints and arteries | Enrichment | NT5E | 2.32 |
| 12 | Anemia, congenital, nonspherocytic hemolytic, 5 | Enrichment | HK1 | 2.32 |
| 13 | Phosphoglycerate kinase 1 deficiency | Enrichment | PGK1 | 2.32 |
| 14 | Aceruloplasminemia | Enrichment | CP | 2.32 |
| 15 | Stomatin-deficient cryohydrocytosis with neurologic defects | Enrichment | SLC2A1 | 2.32 |
| 16 | Maturity-onset diabetes of the young, type 2 | Enrichment | GCK | 2.32 |
| 17 | Colchicine resistance | Enrichment | ABCB1 | 2.32 |
| 18 | Short sleep, familial natural, 1 | Enrichment | BHLHE41 | 2.32 |
| 19 | Uric acid concentration, serum, quantitative trait locus 1 | Enrichment | ABCG2 | 2.32 |
| 20 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | Enrichment | HNF4A | 2.32 |
| 21 | Microvascular complications of diabetes 2 | Enrichment | EPO | 2.32 |
| 22 | Whim syndrome 1 | Enrichment | CXCR4 | 2.32 |
| 23 | Retinitis pigmentosa 79 | Enrichment | HK1 | 2.32 |
| 24 | Atransferrinemia | Enrichment | TF | 2.32 |
| 25 | Auriculocondylar syndrome 3 | Enrichment | EDN1 | 2.32 |
| 26 | Encephalopathy, acute transient | Enrichment | ABCB1 | 2.32 |
| 27 | Lymphedema, primary, with myelodysplasia | Enrichment | GATA2 | 2.32 |
| 28 | Hemoglobin, high altitude adaptation | Enrichment | EGLN1 | 2.32 |
| 29 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.32 |
| 30 | Hyperinsulinemic hypoglycemia, familial, 3 | Enrichment | GCK | 2.32 |
| 31 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.32 |
| 32 | Inflammatory bowel disease 13 | Enrichment | ABCB1 | 2.32 |
| 33 | Question mark ears, isolated | Enrichment | EDN1 | 2.32 |
| 34 | Neuropathy, hereditary motor and sensory, russe type | Enrichment | HK1 | 2.32 |
| 35 | Neurodevelopmental disorder with visual defects and brain anomalies | Enrichment | HK1 | 2.32 |
| 36 | Immunodeficiency 21 | Enrichment | GATA2 | 2.32 |
| 37 | Epilepsy, idiopathic generalized 12 | Enrichment | SLC2A1 | 2.32 |
| 38 | Cowden syndrome 6 | Enrichment | AKT1 | 2.32 |
| 39 | Immunodeficiency 46 | Enrichment | TFRC | 2.32 |
| 40 | Atrial septal defect 8 | Enrichment | CITED2 | 2.32 |
| 41 | Blood group, junior system | Enrichment | ABCG2 | 2.32 |
| 42 | Heme oxygenase 1 deficiency | Enrichment | HMOX1 | 2.32 |
| 43 | Erythrocytosis, familial, 5 | Enrichment | EPO | 2.32 |
| 44 | Deafness-lymphedema-leukemia syndrome | Enrichment | GATA2 | 2.32 |
| 45 | Autosomal recessive dyskeratosis congenita 4 | Enrichment | TERT | 2.32 |
| 46 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.32 |
| 47 | Gestational diabetes | Enrichment | GCK | 2.32 |
| 48 | Sinus venosus atrial septal defect | Enrichment | CITED2 | 2.32 |
| 49 | Hyperinsulinism due to hnf4a deficiency | Enrichment | HNF4A | 2.32 |
| 50 | Acute myeloid leukemia with multilineage dysplasia | Enrichment | NPM1 | 2.32 |
| 51 | Acute myeloid leukemia with npm1 somatic mutations | Enrichment | NPM1 | 2.32 |
| 52 | Epilepsy with myoclonic absences | Enrichment | SLC2A1 | 2.32 |
| 53 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.32 |
| 54 | Male infertility due to obstructive azoospermia | Enrichment | PGK1 | 2.32 |
| 55 | Hereditary cryohydrocytosis with reduced stomatin | Enrichment | SLC2A1 | 2.32 |
| 56 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 2.02 |
| 57 | Myhre syndrome | Enrichment | SMAD4 | 2.02 |
| 58 | Fanconi-bickel syndrome | Enrichment | LDHA | 2.02 |
| 59 | Dystonia 9 | Enrichment | SLC2A1 | 2.02 |
| 60 | Pulmonary arteriovenous fistulas | Enrichment | ENG | 2.02 |
| 61 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.02 |
| 62 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.02 |
| 63 | Glut1 deficiency syndrome 1 | Enrichment | SLC2A1 | 2.02 |
| 64 | Protoporphyria, erythropoietic, 1 | Enrichment | FECH | 2.02 |
| 65 | Diabetes mellitus, permanent neonatal, 1 | Enrichment | GCK | 2.02 |
| 66 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 2.02 |
| 67 | Bone marrow failure syndrome 2 | Enrichment | GCK | 2.02 |
| 68 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 | Enrichment | TERT | 2.02 |
| 69 | Congenital disorder of glycosylation, type it | Enrichment | PGM1 | 2.02 |
| 70 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.02 |
| 71 | Hermansky-pudlak syndrome 3 | Enrichment | CP | 2.02 |
| 72 | Charcot-marie-tooth disease, demyelinating, type 4d | Enrichment | NDRG1 | 2.02 |
| 73 | Diamond-blackfan anemia-like | Enrichment | EPO | 2.02 |
| 74 | Glucose transporter type 1 deficiency syndrome | Enrichment | SLC2A1 | 2.02 |
| 75 | Glycogen storage disease xii | Enrichment | ALDOA | 2.02 |
| 76 | Erythrocytosis, familial, 3 | Enrichment | EGLN1 | 2.02 |
| 77 | Ventricular septal defect 2 | Enrichment | CITED2 | 2.02 |
| 78 | Melanoma, cutaneous malignant 9 | Enrichment | TERT | 2.02 |
| 79 | Idiopathic interstitial pneumonia | Enrichment | TERT | 2.02 |
| 80 | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | Enrichment | RORA | 2.02 |
| 81 | Acute myeloid leukemia without maturation | Enrichment | NPM1 | 2.02 |
| 82 | Charcot-marie-tooth disease type 4d | Enrichment | NDRG1 | 2.02 |
| 83 | Lymphomatoid papulosis | Enrichment | NPM1 | 2.02 |
| 84 | Hyperinsulinism | Enrichment | HNF4A | 2.02 |
| 85 | Hyperinsulinism due to hnf1a deficiency | Enrichment | HNF4A | 2.02 |
| 86 | Autosomal erythropoietic protoporphyria | Enrichment | FECH | 2.02 |
| 87 | Erythropoietic protoporphyria, autosomal recessive | Enrichment | FECH | 2.02 |
| 88 | Primary cutaneous anaplastic large cell lymphoma | Enrichment | NPM1 | 2.02 |
| 89 | Jacobsen syndrome | Enrichment | ETS1 | 1.84 |
| 90 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.84 |
| 91 | Nijmegen breakage syndrome | Enrichment | GCK | 1.84 |
| 92 | Glut1 deficiency syndrome 2 | Enrichment | SLC2A1 | 1.84 |
| 93 | Chromosome 17q23.1-q23.2 deletion syndrome | Enrichment | SLC2A1 | 1.84 |
| 94 | Interstitial lung disease | Enrichment | TERT | 1.84 |
| 95 | Macrocytic anemia | Enrichment | TERT | 1.84 |
| 96 | Melanoma of soft tissue | Enrichment | CREB1 | 1.84 |
| 97 | Enchondromatosis | Enrichment | HIF1A | 1.84 |
| 98 | Systemic lupus erythematosus | Enrichment | ENG, ETS1 | 1.83 |
| 99 | Type 2 diabetes mellitus | Enrichment | GCK, HNF4A | 1.76 |
| 100 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD3, SMAD4 | 1.73 |
| 101 | Huntington disease | Enrichment | SLC2A3 | 1.72 |
| 102 | Auriculocondylar syndrome 1 | Enrichment | EDN1 | 1.72 |
| 103 | Leptin deficiency or dysfunction | Enrichment | LEP | 1.72 |
| 104 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.72 |
| 105 | Lung sarcomatoid carcinoma | Enrichment | TERT | 1.72 |
| 106 | Aortic aneurysm | Enrichment | SMAD3 | 1.72 |
| 107 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1 | 1.72 |
| 108 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.62 |
| 109 | Acute myeloid leukemia with maturation | Enrichment | NPM1 | 1.62 |
| 110 | Histiocytoid hemangioma | Enrichment | FOS | 1.62 |
| 111 | Idiopathic aplastic anemia | Enrichment | TERT | 1.62 |
| 112 | Familial cerebral saccular aneurysm | Enrichment | ENG | 1.62 |
| 113 | Dyskeratosis congenita, autosomal dominant 1 | Enrichment | TERT | 1.55 |
| 114 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | ENG | 1.55 |
| 115 | Hyperinsulinemic hypoglycemia, familial, 1 | Enrichment | GCK | 1.55 |
| 116 | Pulmonary fibrosis | Enrichment | TERT | 1.55 |
| 117 | Adrenocortical carcinoma | Enrichment | TERT | 1.55 |
| 118 | Hoyeraal-hreidarsson syndrome | Enrichment | TERT | 1.55 |
| 119 | Breast adenocarcinoma | Enrichment | AKT1 | 1.55 |
| 120 | Kidney clear cell sarcoma | Enrichment | TERT | 1.55 |
| 121 | Nonsyndromic genetic hyperinsulinism | Enrichment | GCK | 1.55 |
| 122 | Dyskeratosis congenita, autosomal dominant 2 | Enrichment | TERT | 1.48 |
| 123 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.48 |
| 124 | Gallbladder cancer | Enrichment | SMAD4 | 1.48 |
| 125 | Paroxysmal dystonia | Enrichment | SLC2A1 | 1.48 |
| 126 | Alternating hemiplegia of childhood | Enrichment | SLC2A1 | 1.42 |
| 127 | Permanent neonatal diabetes mellitus | Enrichment | GCK | 1.42 |
| 128 | Myoclonic-atonic epilepsy | Enrichment | SLC2A1 | 1.37 |
| 129 | Loeys-dietz syndrome | Enrichment | SMAD3 | 1.37 |
| 130 | Cowden syndrome | Enrichment | AKT1 | 1.37 |
| 131 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.37 |
| 132 | Aplastic anemia | Enrichment | TERT | 1.33 |
| 133 | Neurodegeneration with brain iron accumulation | Enrichment | CP | 1.33 |
| 134 | Breast cancer | Enrichment | AKT1, JUN | 1.30 |
| 135 | Epilepsy, idiopathic generalized | Enrichment | ABCB1 | 1.29 |
| 136 | Myelodysplastic syndrome | Enrichment | GATA2 | 1.29 |
| 137 | Combined immunodeficiency | Enrichment | TFRC | 1.29 |
| 138 | Combined t cell and b cell immunodeficiency | Enrichment | TFRC | 1.29 |
| 139 | Diabetes mellitus | Enrichment | GCK | 1.29 |
| 140 | Heritable pulmonary arterial hypertension | Enrichment | ENG | 1.29 |
| 141 | Combined t and b cell immunodeficiency | Enrichment | TFRC | 1.29 |
| 142 | Pulmonary hypertension, primary, 1 | Enrichment | ENG | 1.22 |
| 143 | Pulmonary disease, chronic obstructive | Enrichment | HMOX1 | 1.22 |
| 144 | Acute promyelocytic leukemia | Enrichment | NPM1 | 1.22 |
| 145 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.19 |
| 146 | Colorectal cancer | Enrichment | AKT1, SMAD4 | 1.19 |
| 147 | Hermansky-pudlak syndrome | Enrichment | CP | 1.16 |
| 148 | Hermansky-pudlak syndrome 1 | Enrichment | CP | 1.13 |
| 149 | Melanoma, cutaneous malignant 1 | Enrichment | TERT | 1.11 |
| 150 | Interstitial lung disease 2 | Enrichment | TERT | 1.11 |
| 151 | Congenital disorder of glycosylation, type in | Enrichment | PGM1 | 1.11 |
| 152 | Polycystic liver disease | Enrichment | HNF4A | 1.11 |
| 153 | Autosomal dominant polycystic liver disease | Enrichment | HNF4A | 1.11 |
| 154 | Human immunodeficiency virus type 1 | Enrichment | CXCL12 | 1.08 |
| 155 | Charcot-marie-tooth disease type 4 | Enrichment | NDRG1 | 1.08 |
| 156 | Patent foramen ovale | Enrichment | CITED2 | 1.08 |
| 157 | Arteriovenous malformations of the brain | Enrichment | ENG | 1.06 |
| 158 | Ehlers-danlos syndrome | Enrichment | SMAD3 | 1.06 |
| 159 | Hepatoblastoma | Enrichment | TERT | 1.02 |
| 160 | Hepatocellular carcinoma | Enrichment | TERT | 1.00 |
| 161 | Malaria | Enrichment | NOS2 | 0.98 |
| 162 | Pancreatic cancer | Enrichment | SMAD4 | 0.95 |
| 163 | Developmental and epileptic encephalopathy 1 | Enrichment | SLC2A1 | 0.95 |
| 164 | Tetralogy of fallot | Enrichment | CITED2 | 0.93 |
| 165 | Strabismus | Enrichment | SLC2A1 | 0.91 |
| 166 | Bladder cancer | Enrichment | TERT | 0.89 |
| 167 | Differentiated thyroid carcinoma | Enrichment | TERT | 0.89 |
| 168 | Visceral heterotaxy 5 | Enrichment | CITED2 | 0.86 |
| 169 | Cystic fibrosis | Enrichment | HMOX1 | 0.85 |
| 170 | Connective tissue disease | Enrichment | SMAD3 | 0.85 |
| 171 | Epilepsy | Enrichment | SLC2A1 | 0.76 |
| 172 | Charcot-marie-tooth disease | Enrichment | NDRG1 | 0.75 |
| 173 | Benign epilepsy with centrotemporal spikes | Enrichment | SLC2A1 | 0.75 |
| 174 | Centralopathic epilepsy | Enrichment | SLC2A1 | 0.73 |
| 175 | Gastric cancer | Enrichment | SMAD4 | 0.73 |
| 176 | West syndrome | Enrichment | SLC2A1 | 0.72 |
| 177 | Hereditary breast carcinoma | Enrichment | AKT1 | 0.72 |
| 178 | Thrombocytopenia | Enrichment | SMAD4 | 0.69 |
| 179 | Ovarian cancer | Enrichment | AKT1 | 0.41 |
| 180 | Autism spectrum disorder | Enrichment | HK1 | 0.39 |
| 181 | Microcephaly | Enrichment | SLC2A1 | 0.35 |
| 182 | Complex neurodevelopmental disorder | Enrichment | RORA | 0.35 |
| 183 | Inherited cancer-predisposing syndrome | Enrichment | SMAD4 | 0.33 |
| 184 | Retinitis pigmentosa | Enrichment | HK1 | 0.19 |
| 185 | Hereditary retinal dystrophy | Enrichment | HK1 | 0.12 |
| 186 | Fundus dystrophy | Enrichment | HK1 | 0.12 |