| 1 | Type 2 diabetes mellitus | Enrichment | ABCC8, AKT2, IRS1, IRS2, KCNJ11, PTPN1, SLC2A4 | 9.67 |
| 2 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 6.67 |
| 3 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.37 |
| 4 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.37 |
| 5 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.37 |
| 6 | Dend syndrome | Enrichment | ABCC8, KCNJ11 | 4.37 |
| 7 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 4.07 |
| 8 | Leptin deficiency or dysfunction | Enrichment | LEP, LEPR | 4.07 |
| 9 | Neonatal diabetes mellitus | Enrichment | ABCC8, KCNJ11 | 4.07 |
| 10 | Transient neonatal diabetes mellitus | Enrichment | ABCC8, KCNJ11 | 3.84 |
| 11 | Hypoglycemia | Enrichment | ABCC8, KCNJ11 | 3.84 |
| 12 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA | 3.84 |
| 13 | Hyperinsulinemic hypoglycemia, familial, 1 | Enrichment | ABCC8, KCNJ11 | 3.67 |
| 14 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.67 |
| 15 | Nonsyndromic genetic hyperinsulinism | Enrichment | ABCC8, KCNJ11 | 3.67 |
| 16 | Permanent neonatal diabetes mellitus | Enrichment | ABCC8, KCNJ11 | 3.40 |
| 17 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 3.29 |
| 18 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.29 |
| 19 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.20 |
| 20 | Meningioma | Enrichment | AKT1, PIK3CA | 3.03 |
| 21 | Lip and oral cavity carcinoma | Enrichment | PIK3CA, STK11 | 3.03 |
| 22 | Maturity-onset diabetes of the young | Enrichment | ABCC8, KCNJ11 | 2.58 |
| 23 | Macrodactyly | Enrichment | PIK3CA | 2.42 |
| 24 | Proteus syndrome | Enrichment | AKT1 | 2.42 |
| 25 | Acrodysostosis 1 with or without hormone resistance | Enrichment | PRKAR1A | 2.42 |
| 26 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.42 |
| 27 | Hyperinsulinemic hypoglycemia, familial, 2 | Enrichment | KCNJ11 | 2.42 |
| 28 | Carney complex, type 1 | Enrichment | PRKAR1A | 2.42 |
| 29 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.42 |
| 30 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.42 |
| 31 | Fetal encasement syndrome | Enrichment | CHUK | 2.42 |
| 32 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.42 |
| 33 | Immunodeficiency 15b | Enrichment | IKBKB | 2.42 |
| 34 | Immunodeficiency 15a | Enrichment | IKBKB | 2.42 |
| 35 | Maturity-onset diabetes of the young, type 12 | Enrichment | ABCC8 | 2.42 |
| 36 | Short syndrome | Enrichment | PIK3R1 | 2.42 |
| 37 | Acetyl-coa carboxylase-alpha deficiency | Enrichment | ACACA | 2.42 |
| 38 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.42 |
| 39 | Cardiomyopathy, familial hypertrophic, 6 | Enrichment | PRKAG2 | 2.42 |
| 40 | Myxoma, intracardiac | Enrichment | PRKAR1A | 2.42 |
| 41 | Glycogen storage disease of heart, lethal congenital | Enrichment | PRKAG2 | 2.42 |
| 42 | Diabetes mellitus, transient neonatal, 3 | Enrichment | KCNJ11 | 2.42 |
| 43 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.42 |
| 44 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.42 |
| 45 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.42 |
| 46 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.42 |
| 47 | Cowden syndrome 6 | Enrichment | AKT1 | 2.42 |
| 48 | Diabetes mellitus, permanent neonatal, 2 | Enrichment | KCNJ11 | 2.42 |
| 49 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.42 |
| 50 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.42 |
| 51 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.42 |
| 52 | Maturity-onset diabetes of the young, type 13 | Enrichment | KCNJ11 | 2.42 |
| 53 | Leptin receptor deficiency | Enrichment | LEPR | 2.42 |
| 54 | Autosomal dominant hyperinsulinism due to sur1 deficiency | Enrichment | ABCC8 | 2.42 |
| 55 | Skeletal muscle glycogen content and metabolism quantitative trait locus | Enrichment | PRKAG3 | 2.42 |
| 56 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.42 |
| 57 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.42 |
| 58 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.42 |
| 59 | Hypospadias | Enrichment | PIK3CA | 2.42 |
| 60 | Capillary hemangioma | Enrichment | AKT3 | 2.42 |
| 61 | Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency | Enrichment | ABCC8 | 2.42 |
| 62 | Prkar1b-related neurodegenerative dementia with intermediate filaments | Enrichment | PRKAR1B | 2.42 |
| 63 | Rare venous malformation | Enrichment | PIK3CA | 2.42 |
| 64 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.42 |
| 65 | Congestive heart failure | Enrichment | ABCC8 | 2.42 |
| 66 | Acute myeloid leukemia with mutated cebpa | Enrichment | CEBPA | 2.42 |
| 67 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.42 |
| 68 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.42 |
| 69 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.42 |
| 70 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.42 |
| 71 | Intermediate dend syndrome | Enrichment | KCNJ11 | 2.42 |
| 72 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.42 |
| 73 | Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency | Enrichment | KCNJ11 | 2.42 |
| 74 | Intestinal polyposis syndrome | Enrichment | STK11 | 2.42 |
| 75 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.42 |
| 76 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.42 |
| 77 | Autosomal recessive hyperinsulinism due to sur1 deficiency | Enrichment | ABCC8 | 2.42 |
| 78 | Macrodactyly of toe | Enrichment | PIK3CA | 2.42 |
| 79 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.42 |
| 80 | Autosomal dominant hyperinsulinism due to kir6.2 deficiency | Enrichment | KCNJ11 | 2.42 |
| 81 | Autosomal recessive hyperinsulinism due to kir6.2 deficiency | Enrichment | KCNJ11 | 2.42 |
| 82 | Colorectal cancer | Enrichment | AKT1, PIK3CA, PIK3R1 | 2.35 |
| 83 | Peutz-jeghers syndrome | Enrichment | STK11 | 2.12 |
| 84 | Amelogenesis imperfecta, type ig | Enrichment | PRKAR1A | 2.12 |
| 85 | Glycogen storage disease 0, liver | Enrichment | GYS2 | 2.12 |
| 86 | Vitamin d hydroxylation-deficient rickets, type 1b | Enrichment | PDE3B | 2.12 |
| 87 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.12 |
| 88 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | PRKAR1A | 2.12 |
| 89 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.12 |
| 90 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.12 |
| 91 | Diabetes mellitus, permanent neonatal, 1 | Enrichment | KCNJ11 | 2.12 |
| 92 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.12 |
| 93 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 2.12 |
| 94 | Hypoglycemia, leucine-induced | Enrichment | ABCC8 | 2.12 |
| 95 | Carnitine palmitoyltransferase i deficiency | Enrichment | CPT1A | 2.12 |
| 96 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.12 |
| 97 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.12 |
| 98 | Thrombocythemia 3 | Enrichment | JAK2 | 2.12 |
| 99 | Diabetes mellitus, transient neonatal, 2 | Enrichment | ABCC8 | 2.12 |
| 100 | Marbach-schaaf neurodevelopmental syndrome | Enrichment | PRKAR1B | 2.12 |
| 101 | Charcot-marie-tooth disease, axonal, type 2dd | Enrichment | ATP1A1 | 2.12 |
| 102 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.12 |
| 103 | Usher syndrome, type iv | Enrichment | PRKAR1A | 2.12 |
| 104 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.12 |
| 105 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.12 |
| 106 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.12 |
| 107 | Acrodysostosis | Enrichment | PRKAR1A | 2.12 |
| 108 | Hypomagnesemia, seizures, and impaired intellectual development 2 | Enrichment | ATP1A1 | 2.12 |
| 109 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.12 |
| 110 | Diabetes mellitus, permanent neonatal, 3 | Enrichment | ABCC8 | 2.12 |
| 111 | Ectodermal dysplasia and immune deficiency | Enrichment | NFKBIA | 2.12 |
| 112 | Immune system disease | Enrichment | PIK3CD | 2.12 |
| 113 | Ciliary dyskinesia, primary, 18 | Enrichment | PRKAR1B | 2.12 |
| 114 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.12 |
| 115 | Polycythemia | Enrichment | JAK2 | 2.12 |
| 116 | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Enrichment | GYS2 | 2.12 |
| 117 | Isolated primary pigmented nodular adrenocortical disease | Enrichment | PRKAR1A | 2.12 |
| 118 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.12 |
| 119 | Hyperinsulinism | Enrichment | KCNJ11 | 2.12 |
| 120 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.12 |
| 121 | Leukemia, acute myeloid | Enrichment | CEBPA, JAK2 | 1.99 |
| 122 | Polycythemia vera | Enrichment | JAK2 | 1.94 |
| 123 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.94 |
| 124 | Vitamin d hydroxylation-deficient rickets, type 1a | Enrichment | PDE3B | 1.94 |
| 125 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 1.94 |
| 126 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2 | 1.94 |
| 127 | Hyperinsulinemic hypoglycemia | Enrichment | ABCC8 | 1.94 |
| 128 | Testicular germ cell cancer | Enrichment | STK11 | 1.94 |
| 129 | Melanoma of soft tissue | Enrichment | CREB1 | 1.94 |
| 130 | Testicular cancer | Enrichment | STK11 | 1.94 |
| 131 | Keratoacanthoma | Enrichment | PIK3CA | 1.94 |
| 132 | Apc-associated polyposis conditions | Enrichment | STK11 | 1.94 |
| 133 | Gastric cancer | Enrichment | PIK3CA, STK11 | 1.93 |
| 134 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 1.91 |
| 135 | Inherited cancer-predisposing syndrome | Enrichment | CEBPA, PRKAR1A, STK11 | 1.85 |
| 136 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.82 |
| 137 | Dermatitis, atopic | Enrichment | KCNJ11 | 1.82 |
| 138 | Budd-chiari syndrome | Enrichment | JAK2 | 1.82 |
| 139 | Carney complex variant | Enrichment | PRKAR1A | 1.82 |
| 140 | Arrhythmogenic right ventricular dysplasia, familial, 10 | Enrichment | PRKAR1A | 1.82 |
| 141 | Cerebrovascular disease | Enrichment | PIK3CA | 1.82 |
| 142 | Newborn respiratory distress syndrome | Enrichment | ABCC8 | 1.82 |
| 143 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.82 |
| 144 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.72 |
| 145 | Familial adenomatous polyposis 1 | Enrichment | STK11 | 1.72 |
| 146 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.72 |
| 147 | Polyhydramnios | Enrichment | ABCC8 | 1.72 |
| 148 | Inherited acute myeloid leukemia | Enrichment | CEBPA | 1.72 |
| 149 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | CEBPA | 1.72 |
| 150 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | STK11 | 1.72 |
| 151 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.64 |
| 152 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.64 |
| 153 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.64 |
| 154 | Testicular germ cell tumor | Enrichment | STK11 | 1.64 |
| 155 | Adrenocortical carcinoma | Enrichment | PRKAR1A | 1.64 |
| 156 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.64 |
| 157 | Hypertrichosis | Enrichment | KCNJ11 | 1.64 |
| 158 | Nevus, epidermal | Enrichment | PIK3CA | 1.58 |
| 159 | Myelofibrosis | Enrichment | JAK2 | 1.58 |
| 160 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.58 |
| 161 | Essential thrombocythemia | Enrichment | JAK2 | 1.58 |
| 162 | Gallbladder cancer | Enrichment | PIK3CA | 1.58 |
| 163 | Megacolon | Enrichment | AKT3 | 1.58 |
| 164 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.58 |
| 165 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.58 |
| 166 | Gastroesophageal reflux | Enrichment | ABCC8 | 1.52 |
| 167 | Breast cancer | Enrichment | AKT1, PIK3CA | 1.48 |
| 168 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.47 |
| 169 | Arteriovenous malformation | Enrichment | PIK3CA | 1.47 |
| 170 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.47 |
| 171 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.42 |
| 172 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.42 |
| 173 | Polymicrogyria | Enrichment | AKT3 | 1.42 |
| 174 | Melanoma | Enrichment | STK11 | 1.42 |
| 175 | Atrial heart septal defect | Enrichment | ABCC8 | 1.38 |
| 176 | Glycogen storage disease | Enrichment | GYS2 | 1.38 |
| 177 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.38 |
| 178 | Diabetes mellitus | Enrichment | KCNJ11 | 1.38 |
| 179 | Interatrial communication | Enrichment | ABCC8 | 1.38 |
| 180 | Pulmonary disease, chronic obstructive | Enrichment | PDE3B | 1.31 |
| 181 | Acute promyelocytic leukemia | Enrichment | PRKAR1A | 1.31 |
| 182 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.31 |
| 183 | Lynch syndrome | Enrichment | PIK3CA | 1.25 |
| 184 | Ovarian cancer | Enrichment | AKT1, PIK3CA | 1.24 |
| 185 | Wolff-parkinson-white syndrome | Enrichment | PRKAG2 | 1.22 |
| 186 | Gliosarcoma | Enrichment | NFKBIA | 1.22 |
| 187 | Melanoma, cutaneous malignant 1 | Enrichment | STK11 | 1.20 |
| 188 | Giant cell glioblastoma | Enrichment | NFKBIA | 1.20 |
| 189 | Endometrial cancer | Enrichment | PIK3CA | 1.11 |
| 190 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.09 |
| 191 | Pancreatic cancer | Enrichment | STK11 | 1.04 |
| 192 | Bladder cancer | Enrichment | PIK3CA | 0.98 |
| 193 | Prostate cancer | Enrichment | PIK3CA | 0.98 |
| 194 | Lung cancer | Enrichment | PIK3CA | 0.94 |
| 195 | Familial hypertrophic cardiomyopathy | Enrichment | PRKAG2 | 0.92 |
| 196 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.92 |
| 197 | Hypertrophic cardiomyopathy | Enrichment | PRKAG2 | 0.82 |
| 198 | Body mass index quantitative trait locus 11 | Enrichment | LEPR | 0.76 |
| 199 | Hypertelorism | Enrichment | PIK3CA | 0.74 |
| 200 | Myeloma, multiple | Enrichment | PIK3R2 | 0.71 |
| 201 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.69 |
| 202 | Primary ciliary dyskinesia | Enrichment | PRKAR1B | 0.60 |