| 1 | Maturity-onset diabetes of the young | Enrichment | ABCC8, GCK, HNF1A, HNF4A, INS, KCNJ11, PDX1 | 16.00 |
| 2 | Type 2 diabetes mellitus | Enrichment | ABCC8, GCK, HNF1A, HNF4A, KCNJ11, PDX1, SLC2A2 | 10.87 |
| 3 | Permanent neonatal diabetes mellitus | Enrichment | ABCC8, GCK, INS, KCNJ11, PDX1 | 10.47 |
| 4 | Hyperinsulinemic hypoglycemia, familial, 1 | Enrichment | ABCC8, GCK, HADH, KCNJ11 | 9.01 |
| 5 | Nonsyndromic genetic hyperinsulinism | Enrichment | ABCC8, GCK, HADH, KCNJ11 | 9.01 |
| 6 | Diabetes mellitus | Enrichment | GCK, HNF1A, INS, KCNJ11 | 7.68 |
| 7 | Maturity-onset diabetes of the young, type 3 | Enrichment | GCK, HNF1A, HNF4A | 7.02 |
| 8 | Neonatal diabetes mellitus | Enrichment | ABCC8, INS, KCNJ11 | 7.02 |
| 9 | Hypoglycemia | Enrichment | ABCC8, G6PC1, KCNJ11 | 6.63 |
| 10 | Maturity-onset diabetes of the young, type 1 | Enrichment | GCK, HNF4A | 5.07 |
| 11 | Diabetes mellitus, permanent neonatal, 1 | Enrichment | GCK, KCNJ11 | 5.07 |
| 12 | Hyperinsulinism | Enrichment | HNF4A, KCNJ11 | 5.07 |
| 13 | Hyperinsulinism due to hnf1a deficiency | Enrichment | HNF1A, HNF4A | 5.07 |
| 14 | Hyperinsulinemic hypoglycemia | Enrichment | ABCC8, HADH | 4.60 |
| 15 | Dend syndrome | Enrichment | ABCC8, KCNJ11 | 4.60 |
| 16 | Transient neonatal diabetes mellitus | Enrichment | ABCC8, KCNJ11 | 4.07 |
| 17 | Type 1 diabetes mellitus | Enrichment | HNF1A, INS | 3.90 |
| 18 | Non-acquired combined pituitary hormone deficiency | Enrichment | FOXA2 | 3.66 |
| 19 | Combined pituitary hormone deficiency | Enrichment | FOXA2 | 2.75 |
| 20 | Carpal tunnel syndrome 1 | Enrichment | TTR | 2.53 |
| 21 | Adenosine triphosphate, elevated, of erythrocytes | Enrichment | PKLR | 2.53 |
| 22 | Proteus syndrome | Enrichment | AKT1 | 2.53 |
| 23 | Hyperthyroxinemia, dystransthyretinemic | Enrichment | TTR | 2.53 |
| 24 | Hepatic adenomas, familial | Enrichment | HNF1A | 2.53 |
| 25 | Pancreatic agenesis 1 | Enrichment | PDX1 | 2.53 |
| 26 | 3-hydroxyacyl-coa dehydrogenase deficiency | Enrichment | HADH | 2.53 |
| 27 | Anemia, congenital, nonspherocytic hemolytic, 2 | Enrichment | PKLR | 2.53 |
| 28 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | Enrichment | PCK1 | 2.53 |
| 29 | Hyperinsulinemic hypoglycemia, familial, 2 | Enrichment | KCNJ11 | 2.53 |
| 30 | Maturity-onset diabetes of the young, type 4 | Enrichment | PDX1 | 2.53 |
| 31 | Prothrombin deficiency, congenital | Enrichment | F2 | 2.53 |
| 32 | Maturity-onset diabetes of the young, type 2 | Enrichment | GCK | 2.53 |
| 33 | Amyloidosis, hereditary systemic 1 | Enrichment | TTR | 2.53 |
| 34 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.53 |
| 35 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | Enrichment | HNF4A | 2.53 |
| 36 | Hyperthyroxinemia, familial dysalbuminemic | Enrichment | ALB | 2.53 |
| 37 | Acyl-coa dehydrogenase, medium-chain, deficiency of | Enrichment | ACADM | 2.53 |
| 38 | Alpha-fetoprotein, hereditary persistence of | Enrichment | AFP | 2.53 |
| 39 | Maturity-onset diabetes of the young, type 12 | Enrichment | ABCC8 | 2.53 |
| 40 | Body mass index quantitative trait locus 4 | Enrichment | UCP2 | 2.53 |
| 41 | Diabetes mellitus, transient neonatal, 3 | Enrichment | KCNJ11 | 2.53 |
| 42 | Hyperinsulinemic hypoglycemia, familial, 3 | Enrichment | GCK | 2.53 |
| 43 | Cowden syndrome 6 | Enrichment | AKT1 | 2.53 |
| 44 | Immunodeficiency 46 | Enrichment | TFRC | 2.53 |
| 45 | Diabetes mellitus, permanent neonatal, 2 | Enrichment | KCNJ11 | 2.53 |
| 46 | Alpha-fetoprotein deficiency | Enrichment | AFP | 2.53 |
| 47 | Maturity-onset diabetes of the young, type 13 | Enrichment | KCNJ11 | 2.53 |
| 48 | Type 1 diabetes mellitus 20 | Enrichment | HNF1A | 2.53 |
| 49 | Pregnancy loss, recurrent 2 | Enrichment | F2 | 2.53 |
| 50 | Autosomal dominant hyperinsulinism due to sur1 deficiency | Enrichment | ABCC8 | 2.53 |
| 51 | Congenital analbuminemia | Enrichment | ALB | 2.53 |
| 52 | Plexiform neurofibroma | Enrichment | NF1 | 2.53 |
| 53 | Analbuminemia | Enrichment | ALB | 2.53 |
| 54 | Neurofibroma | Enrichment | NF1 | 2.53 |
| 55 | Amyloidosis | Enrichment | TTR | 2.53 |
| 56 | Neurofibromatosis | Enrichment | NF1 | 2.53 |
| 57 | Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency | Enrichment | ABCC8 | 2.53 |
| 58 | Gestational diabetes | Enrichment | GCK | 2.53 |
| 59 | Prothrombin deficiency | Enrichment | F2 | 2.53 |
| 60 | Hyperinsulinism due to hnf4a deficiency | Enrichment | HNF4A | 2.53 |
| 61 | Chromosome 17q11.2 deletion syndrome | Enrichment | NF1 | 2.53 |
| 62 | Optic nerve glioma | Enrichment | NF1 | 2.53 |
| 63 | Congestive heart failure | Enrichment | ABCC8 | 2.53 |
| 64 | Medium-chain acyl-coenzyme a dehydrogenase deficiency | Enrichment | ACADM | 2.53 |
| 65 | Intermediate dend syndrome | Enrichment | KCNJ11 | 2.53 |
| 66 | Hereditary amyloidosis | Enrichment | TTR | 2.53 |
| 67 | Attrv30m amyloidosis | Enrichment | TTR | 2.53 |
| 68 | Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency | Enrichment | KCNJ11 | 2.53 |
| 69 | Hyperinsulinism due to ucp2 deficiency | Enrichment | UCP2 | 2.53 |
| 70 | Autosomal recessive hyperinsulinism due to sur1 deficiency | Enrichment | ABCC8 | 2.53 |
| 71 | Atresia of urethra | Enrichment | FOXF1 | 2.53 |
| 72 | Attrv122i amyloidosis | Enrichment | TTR | 2.53 |
| 73 | Autosomal dominant hyperinsulinism due to kir6.2 deficiency | Enrichment | KCNJ11 | 2.53 |
| 74 | Autosomal recessive hyperinsulinism due to kir6.2 deficiency | Enrichment | KCNJ11 | 2.53 |
| 75 | Cafe-au-lait spots, multiple | Enrichment | NF1 | 2.23 |
| 76 | Pancreas, dorsal, agenesis of | Enrichment | PDX1 | 2.23 |
| 77 | Fanconi-bickel syndrome | Enrichment | SLC2A2 | 2.23 |
| 78 | Hyperlipoproteinemia, type i | Enrichment | LPL | 2.23 |
| 79 | Galactosemia ii | Enrichment | NR3C1 | 2.23 |
| 80 | Fructose intolerance, hereditary | Enrichment | ALDOB | 2.23 |
| 81 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.23 |
| 82 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | HADH | 2.23 |
| 83 | Bone marrow failure syndrome 2 | Enrichment | GCK | 2.23 |
| 84 | Mononeuropathy of the median nerve, mild | Enrichment | TTR | 2.23 |
| 85 | Hypoglycemia, leucine-induced | Enrichment | ABCC8 | 2.23 |
| 86 | Lipase deficiency, combined | Enrichment | LPL | 2.23 |
| 87 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 2.23 |
| 88 | Diabetes mellitus, transient neonatal, 2 | Enrichment | ABCC8 | 2.23 |
| 89 | Hyperproinsulinemia | Enrichment | INS | 2.23 |
| 90 | Chromosome 17q11.2 duplication syndrome, 1.4-mb | Enrichment | NF1 | 2.23 |
| 91 | Pyloric stenosis, infantile hypertrophic, 5 | Enrichment | FOXF1 | 2.23 |
| 92 | Central precocious puberty | Enrichment | DLK1 | 2.23 |
| 93 | Diabetes mellitus, permanent neonatal, 3 | Enrichment | ABCC8 | 2.23 |
| 94 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 2.23 |
| 95 | Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction | Enrichment | NKX2-1 | 2.23 |
| 96 | Bardet-biedl syndrome 9 | Enrichment | NF1 | 2.23 |
| 97 | Familial lipoprotein lipase deficiency | Enrichment | LPL | 2.23 |
| 98 | Hypoalphalipoproteinemia, primary, 2, intermediate | Enrichment | APOA1 | 2.23 |
| 99 | Amyloidosis, hereditary systemic 3 | Enrichment | APOA1 | 2.23 |
| 100 | Pleomorphic rhabdomyosarcoma | Enrichment | NF1 | 2.23 |
| 101 | Idiopathic/heritable pulmonary arterial hypertension | Enrichment | FOXF1 | 2.23 |
| 102 | Nkx2-1-related disorders | Enrichment | NKX2-1 | 2.23 |
| 103 | Type 1 diabetes mellitus 2 | Enrichment | INS | 2.05 |
| 104 | Nijmegen breakage syndrome | Enrichment | GCK | 2.05 |
| 105 | Watson syndrome | Enrichment | NF1 | 2.05 |
| 106 | Heart defects, congenital, and other congenital anomalies | Enrichment | ACADVL | 2.05 |
| 107 | Alveolar capillary dysplasia with misalignment of pulmonary veins | Enrichment | FOXF1 | 2.05 |
| 108 | Neurofibromatosis, familial spinal | Enrichment | NF1 | 2.05 |
| 109 | Chromosome 17q11.2 deletion syndrome, 1.4-mb | Enrichment | NF1 | 2.05 |
| 110 | Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | Enrichment | HNF1A | 2.05 |
| 111 | Hypoalphalipoproteinemia, primary, 2 | Enrichment | APOA1 | 2.05 |
| 112 | Intellectual developmental disorder, autosomal dominant 62 | Enrichment | ACADVL | 2.05 |
| 113 | Precocious puberty, central, 2 | Enrichment | DLK1 | 2.05 |
| 114 | Chromophobe renal cell carcinoma | Enrichment | HNF1A | 2.05 |
| 115 | Brain cancer | Enrichment | NF1 | 2.05 |
| 116 | Spastic paraplegia 50, autosomal recessive | Enrichment | APOA1 | 2.05 |
| 117 | Dlg4-related synaptopathy | Enrichment | ACADVL | 2.05 |
| 118 | Phosphoenolpyruvate carboxykinase deficiency | Enrichment | PCK1 | 2.05 |
| 119 | Melanoma of soft tissue | Enrichment | CREB1 | 2.05 |
| 120 | Cerebral sinovenous thrombosis | Enrichment | F2 | 2.05 |
| 121 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | ALB | 1.93 |
| 122 | Chorea, benign hereditary | Enrichment | NKX2-1 | 1.93 |
| 123 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | ACADVL | 1.93 |
| 124 | Glycogen storage disease ia | Enrichment | G6PC1 | 1.93 |
| 125 | Thyroid cancer, nonmedullary, 1 | Enrichment | NKX2-1 | 1.93 |
| 126 | Tyrosinemia, type ii | Enrichment | TAT | 1.93 |
| 127 | Dermatitis, atopic | Enrichment | KCNJ11 | 1.93 |
| 128 | Neurofibromatosis-noonan syndrome | Enrichment | NF1 | 1.93 |
| 129 | Hypoalphalipoproteinemia, primary, 1 | Enrichment | APOA1 | 1.93 |
| 130 | Kagami-ogata syndrome | Enrichment | DLK1 | 1.93 |
| 131 | Temple syndrome | Enrichment | DLK1 | 1.93 |
| 132 | Hereditary ataxia | Enrichment | NKX2-1 | 1.93 |
| 133 | Embryonal rhabdomyosarcoma | Enrichment | NF1 | 1.93 |
| 134 | Pilocytic astrocytoma | Enrichment | NF1 | 1.93 |
| 135 | Newborn respiratory distress syndrome | Enrichment | ABCC8 | 1.93 |
| 136 | Hydrocephalus, congenital, 2, with or without brain or eye anomalies | Enrichment | ACADM | 1.93 |
| 137 | Coronary artery anomaly | Enrichment | LPL | 1.93 |
| 138 | Vacterl association | Enrichment | FOXF1 | 1.93 |
| 139 | Genetic central precocious puberty in male | Enrichment | DLK1 | 1.93 |
| 140 | Middle aortic syndrome | Enrichment | NF1 | 1.93 |
| 141 | Clear cell papillary renal cell carcinoma | Enrichment | HNF1A | 1.93 |
| 142 | Myeloma, multiple | Enrichment | NF1, NKX2-1 | 1.93 |
| 143 | Hyperlipidemia, familial combined, 3 | Enrichment | LPL | 1.83 |
| 144 | Amyloidosis, hereditary systemic 2 | Enrichment | APOA1 | 1.83 |
| 145 | Vater/vacterl association | Enrichment | FOXF1 | 1.83 |
| 146 | Congenital myopathy 3 with rigid spine | Enrichment | HMGCS1 | 1.83 |
| 147 | Rhabdomyosarcoma 2 | Enrichment | NF1 | 1.83 |
| 148 | Polyhydramnios | Enrichment | ABCC8 | 1.83 |
| 149 | Clear cell renal cell carcinoma | Enrichment | HNF1A | 1.76 |
| 150 | Breast adenocarcinoma | Enrichment | AKT1 | 1.76 |
| 151 | Hypertrichosis | Enrichment | KCNJ11 | 1.76 |
| 152 | Hypothyroidism, congenital, nongoitrous, 2 | Enrichment | NKX2-1 | 1.69 |
| 153 | Thrombophilia due to thrombin defect | Enrichment | F2 | 1.69 |
| 154 | Hemolytic anemia | Enrichment | PKLR | 1.69 |
| 155 | Breast cancer | Enrichment | AKT1, HNF1A | 1.69 |
| 156 | Gastroesophageal reflux | Enrichment | ABCC8 | 1.63 |
| 157 | Ewing sarcoma | Enrichment | NF1 | 1.63 |
| 158 | Choreatic disease | Enrichment | NKX2-1 | 1.63 |
| 159 | Neurofibromatosis, type i | Enrichment | NF1 | 1.58 |
| 160 | Leukemia, acute lymphoblastic 3 | Enrichment | NF1 | 1.58 |
| 161 | Primary hyperaldosteronism | Enrichment | NR3C1 | 1.58 |
| 162 | Ventricular septal defect | Enrichment | FOXF1 | 1.58 |
| 163 | Cowden syndrome | Enrichment | AKT1 | 1.58 |
| 164 | Stroke, ischemic | Enrichment | F2 | 1.54 |
| 165 | Combined immunodeficiency | Enrichment | TFRC | 1.50 |
| 166 | Atrial heart septal defect | Enrichment | ABCC8 | 1.50 |
| 167 | Glycogen storage disease | Enrichment | G6PC1 | 1.50 |
| 168 | Combined t cell and b cell immunodeficiency | Enrichment | TFRC | 1.50 |
| 169 | Interatrial communication | Enrichment | ABCC8 | 1.50 |
| 170 | Combined t and b cell immunodeficiency | Enrichment | TFRC | 1.50 |
| 171 | Digeorge syndrome | Enrichment | HNF1A | 1.46 |
| 172 | Juvenile myelomonocytic leukemia | Enrichment | NF1 | 1.46 |
| 173 | Meningioma | Enrichment | AKT1 | 1.46 |
| 174 | Congenital long qt syndrome | Enrichment | SLC2A2 | 1.46 |
| 175 | Ovarian cancer | Enrichment | AKT1, HNF1A | 1.45 |
| 176 | Pheochromocytoma | Enrichment | NF1 | 1.39 |
| 177 | Renal cell carcinoma, nonpapillary | Enrichment | HNF1A | 1.36 |
| 178 | Rhabdomyosarcoma | Enrichment | NF1 | 1.34 |
| 179 | Polycystic liver disease | Enrichment | HNF4A | 1.31 |
| 180 | Autosomal dominant polycystic liver disease | Enrichment | HNF4A | 1.31 |
| 181 | Cardiomyopathy, dilated, 1a | Enrichment | LPL | 1.22 |
| 182 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | NF1 | 1.22 |
| 183 | Skin disease | Enrichment | NF1 | 1.20 |
| 184 | Rasopathy | Enrichment | NF1 | 1.13 |
| 185 | Bladder cancer | Enrichment | NF1 | 1.09 |
| 186 | Differentiated thyroid carcinoma | Enrichment | NKX2-1 | 1.09 |
| 187 | Long qt syndrome 1 | Enrichment | SLC2A2 | 1.07 |
| 188 | Cerebral palsy | Enrichment | F2 | 0.96 |
| 189 | Myopathy | Enrichment | ACADVL | 0.95 |
| 190 | Charcot-marie-tooth disease | Enrichment | TTR | 0.94 |
| 191 | Gastric cancer | Enrichment | NF1 | 0.92 |
| 192 | Hereditary breast carcinoma | Enrichment | AKT1 | 0.91 |
| 193 | Body mass index quantitative trait locus 11 | Enrichment | UCP2 | 0.86 |
| 194 | Hereditary breast ovarian cancer syndrome | Enrichment | NF1 | 0.82 |
| 195 | Primary ovarian insufficiency | Enrichment | AFP | 0.80 |
| 196 | Colorectal cancer | Enrichment | AKT1 | 0.64 |
| 197 | Autism spectrum disorder | Enrichment | NF1 | 0.56 |
| 198 | Inherited cancer-predisposing syndrome | Enrichment | NF1 | 0.49 |