| 1 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 5.14 |
| 2 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 5.14 |
| 3 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD2, SMAD3, SMAD4 | 4.68 |
| 4 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B | 4.51 |
| 5 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300 | 4.29 |
| 6 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3 | 4.28 |
| 7 | Diffuse large b-cell lymphoma | Enrichment | CREBBP, FOXO1 | 4.08 |
| 8 | Permanent neonatal diabetes mellitus | Enrichment | GCK, INS | 3.91 |
| 9 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4, STK11 | 3.66 |
| 10 | Diabetes mellitus | Enrichment | GCK, INS | 3.62 |
| 11 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 3.13 |
| 12 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 3.13 |
| 13 | Menke-hennekam syndrome | Enrichment | CREBBP | 3.13 |
| 14 | Proteus syndrome | Enrichment | AKT1 | 3.09 |
| 15 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 3.09 |
| 16 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 3.09 |
| 17 | Cowden syndrome 6 | Enrichment | AKT1 | 3.09 |
| 18 | Developmental and epileptic encephalopathy 56 | Enrichment | YWHAG | 3.09 |
| 19 | Capillary hemangioma | Enrichment | AKT3 | 3.09 |
| 20 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 3.09 |
| 21 | Maturity-onset diabetes of the young | Enrichment | GCK, INS | 3.09 |
| 22 | Type 2 diabetes mellitus | Enrichment | AKT2, GCK, RETN | 3.00 |
| 23 | Atrial septal defect 8 | Enrichment | CITED2 | 2.96 |
| 24 | Sinus venosus atrial septal defect | Enrichment | CITED2 | 2.96 |
| 25 | Intestinal polyposis syndrome | Enrichment | STK11 | 2.96 |
| 26 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.90 |
| 27 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.90 |
| 28 | Brunet-wagner neurodevelopmental syndrome | Enrichment | RBL2 | 2.90 |
| 29 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.90 |
| 30 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.90 |
| 31 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.90 |
| 32 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.90 |
| 33 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.90 |
| 34 | Foxg1 syndrome due to intragenic alteration | Enrichment | FOXG1 | 2.90 |
| 35 | Foxg1 syndrome due to 14q12 microdeletion | Enrichment | FOXG1 | 2.90 |
| 36 | Thumb deformity | Enrichment | CREBBP | 2.83 |
| 37 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.83 |
| 38 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.83 |
| 39 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.79 |
| 40 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.79 |
| 41 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | Enrichment | PCK1 | 2.67 |
| 42 | Microvascular complications of diabetes 6 | Enrichment | SOD2 | 2.67 |
| 43 | Maturity-onset diabetes of the young, type 2 | Enrichment | GCK | 2.67 |
| 44 | Mucoepithelial dysplasia, hereditary | Enrichment | SREBF1 | 2.67 |
| 45 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.67 |
| 46 | Cardiomyopathy, familial hypertrophic, 31 | Enrichment | TRIM63 | 2.67 |
| 47 | Ifap syndrome 2 | Enrichment | SREBF1 | 2.67 |
| 48 | Hyperinsulinemic hypoglycemia, familial, 3 | Enrichment | GCK | 2.67 |
| 49 | Acatalasemia | Enrichment | CAT | 2.67 |
| 50 | Gestational diabetes | Enrichment | GCK | 2.67 |
| 51 | Chromosome 15q24 deletion syndrome | Enrichment | SIN3A | 2.67 |
| 52 | Tethered spinal cord syndrome | Enrichment | CREBBP | 2.66 |
| 53 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 2.66 |
| 54 | Peutz-jeghers syndrome | Enrichment | STK11 | 2.66 |
| 55 | Intravascular large b-cell lymphoma | Enrichment | BCL6 | 2.66 |
| 56 | Ventricular septal defect 2 | Enrichment | CITED2 | 2.66 |
| 57 | Primary mediastinal large b-cell lymphoma | Enrichment | BCL6 | 2.66 |
| 58 | Myhre syndrome | Enrichment | SMAD4 | 2.60 |
| 59 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.60 |
| 60 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.60 |
| 61 | Muscle hypertrophy | Enrichment | MSTN | 2.60 |
| 62 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.60 |
| 63 | Myostatin-related muscle hypertrophy | Enrichment | MSTN | 2.60 |
| 64 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3 | 2.49 |
| 65 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 2.49 |
| 66 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | YWHAZ | 2.49 |
| 67 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL6 | 2.48 |
| 68 | Testicular germ cell cancer | Enrichment | STK11 | 2.48 |
| 69 | Myxoid liposarcoma | Enrichment | DDIT3 | 2.48 |
| 70 | Testicular cancer | Enrichment | STK11 | 2.48 |
| 71 | Apc-associated polyposis conditions | Enrichment | STK11 | 2.48 |
| 72 | Rhabdomyosarcoma 2 | Enrichment | FOXO1 | 2.43 |
| 73 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 2.43 |
| 74 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 2.43 |
| 75 | Loeys-dietz syndrome 1 | Enrichment | SMAD2 | 2.43 |
| 76 | Hemimegalencephaly | Enrichment | AKT3 | 2.39 |
| 77 | Maturity-onset diabetes of the young, type 1 | Enrichment | GCK | 2.37 |
| 78 | Galactosemia ii | Enrichment | NR3C1 | 2.37 |
| 79 | Diabetes mellitus, permanent neonatal, 1 | Enrichment | GCK | 2.37 |
| 80 | Bone marrow failure syndrome 2 | Enrichment | GCK | 2.37 |
| 81 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 2.37 |
| 82 | Hyperproinsulinemia | Enrichment | INS | 2.37 |
| 83 | Witteveen-kolk syndrome | Enrichment | SIN3A | 2.37 |
| 84 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 2.37 |
| 85 | Hypertrichosis | Enrichment | CREBBP | 2.35 |
| 86 | Breast adenocarcinoma | Enrichment | AKT1 | 2.31 |
| 87 | Aortic aneurysm | Enrichment | SMAD3 | 2.30 |
| 88 | Primary hyperparathyroidism | Enrichment | CDKN1B | 2.30 |
| 89 | Body mass index quantitative trait locus 11 | Enrichment | AGRP, POMC | 2.29 |
| 90 | Familial adenomatous polyposis 1 | Enrichment | STK11 | 2.26 |
| 91 | Follicular lymphoma | Enrichment | BCL6 | 2.26 |
| 92 | Megacolon | Enrichment | AKT3 | 2.25 |
| 93 | Pancreatic cancer | Enrichment | SMAD4, STK11 | 2.21 |
| 94 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1 | 2.20 |
| 95 | Type 1 diabetes mellitus 2 | Enrichment | INS | 2.19 |
| 96 | Nijmegen breakage syndrome | Enrichment | GCK | 2.19 |
| 97 | Ifap syndrome 1, with or without bresheck syndrome | Enrichment | SREBF1 | 2.19 |
| 98 | Obesity, early-onset, with adrenal insufficiency and red hair | Enrichment | POMC | 2.19 |
| 99 | Phosphoenolpyruvate carboxykinase deficiency | Enrichment | PCK1 | 2.19 |
| 100 | Obesity due to pro-opiomelanocortin deficiency | Enrichment | POMC | 2.19 |
| 101 | Charge syndrome | Enrichment | EP300 | 2.18 |
| 102 | Testicular germ cell tumor | Enrichment | STK11 | 2.18 |
| 103 | Parkinson disease 6, autosomal recessive early-onset | Enrichment | PINK1 | 2.18 |
| 104 | Cowden syndrome | Enrichment | AKT1 | 2.14 |
| 105 | Limited scleroderma | Enrichment | CAV1 | 2.13 |
| 106 | Colorectal cancer | Enrichment | AKT1, EP300, SMAD4 | 2.10 |
| 107 | Polymicrogyria | Enrichment | AKT3 | 2.09 |
| 108 | Glycogen storage disease ia | Enrichment | G6PC1 | 2.07 |
| 109 | Maturity-onset diabetes of the young, type 3 | Enrichment | GCK | 2.07 |
| 110 | Neonatal diabetes mellitus | Enrichment | INS | 2.07 |
| 111 | Rett syndrome | Enrichment | FOXG1 | 2.06 |
| 112 | Gallbladder cancer | Enrichment | SMAD4 | 2.06 |
| 113 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 2.06 |
| 114 | Specific learning disability | Enrichment | YWHAG | 2.05 |
| 115 | Meningioma | Enrichment | AKT1 | 2.01 |
| 116 | Rett syndrome, congenital variant | Enrichment | FOXG1 | 2.00 |
| 117 | Heart disease | Enrichment | CREBBP | 1.99 |
| 118 | Hypoglycemia | Enrichment | G6PC1 | 1.97 |
| 119 | Melanoma | Enrichment | STK11 | 1.96 |
| 120 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.96 |
| 121 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.96 |
| 122 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.96 |
| 123 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.96 |
| 124 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.95 |
| 125 | Inherited cancer-predisposing syndrome | Enrichment | CDKN1B, SMAD4 | 1.93 |
| 126 | Optic nerve disease | Enrichment | FOXG1 | 1.90 |
| 127 | Machado-joseph disease | Enrichment | ATXN3 | 1.89 |
| 128 | Hyperinsulinemic hypoglycemia, familial, 1 | Enrichment | GCK | 1.89 |
| 129 | Type 1 diabetes mellitus | Enrichment | INS | 1.89 |
| 130 | Nonsyndromic genetic hyperinsulinism | Enrichment | GCK | 1.89 |
| 131 | Early-onset parkinson's disease | Enrichment | PINK1 | 1.88 |
| 132 | Lip and oral cavity carcinoma | Enrichment | STK11 | 1.88 |
| 133 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.86 |
| 134 | Stereotypic movement disorder | Enrichment | FOXG1 | 1.79 |
| 135 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.76 |
| 136 | Gastric cancer | Enrichment | SMAD4, STK11 | 1.76 |
| 137 | Scoliosis | Enrichment | CREBBP | 1.76 |
| 138 | Melanoma, cutaneous malignant 1 | Enrichment | STK11 | 1.73 |
| 139 | Primary hyperaldosteronism | Enrichment | NR3C1 | 1.72 |
| 140 | Patent foramen ovale | Enrichment | CITED2 | 1.70 |
| 141 | Isolated congenital microcephaly | Enrichment | FOXG1 | 1.70 |
| 142 | Glycogen storage disease | Enrichment | G6PC1 | 1.63 |
| 143 | Ehlers-danlos syndrome | Enrichment | SMAD3 | 1.63 |
| 144 | Lissencephaly | Enrichment | FOXG1 | 1.58 |
| 145 | Tetralogy of fallot | Enrichment | CITED2 | 1.55 |
| 146 | Undetermined early-onset epileptic encephalopathy | Enrichment | FOXG1, YWHAG | 1.54 |
| 147 | Strabismus | Enrichment | FOXG1 | 1.48 |
| 148 | Visceral heterotaxy 5 | Enrichment | CITED2 | 1.47 |
| 149 | Hereditary breast carcinoma | Enrichment | AKT1 | 1.45 |
| 150 | Bladder cancer | Enrichment | CDKN1A | 1.45 |
| 151 | Connective tissue disease | Enrichment | SMAD3 | 1.40 |
| 152 | Autosomal dominant non-syndromic intellectual disability | Enrichment | YWHAZ | 1.40 |
| 153 | Parkinson's disease | Enrichment | ATXN3 | 1.40 |
| 154 | Myeloma, multiple | Enrichment | CREBBP | 1.39 |
| 155 | Parkinson disease, late-onset | Enrichment | ATXN3 | 1.30 |
| 156 | Autism | Enrichment | CREBBP | 1.29 |
| 157 | Thrombocytopenia | Enrichment | SMAD4 | 1.23 |
| 158 | Breast cancer | Enrichment | AKT1 | 1.23 |
| 159 | Hirschsprung disease 1 | Enrichment | SREBF1 | 1.22 |
| 160 | Congenital nervous system abnormality | Enrichment | CREBBP | 1.12 |
| 161 | Nervous system disease | Enrichment | CREBBP | 1.12 |
| 162 | Ovarian cancer | Enrichment | AKT1 | 1.10 |
| 163 | Microcephaly | Enrichment | EP300 | 1.06 |
| 164 | Hypertrophic cardiomyopathy | Enrichment | TRIM63 | 1.06 |
| 165 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PPARGC1A | 0.93 |