| 1 | Maturity-onset diabetes of the young | Enrichment | ABCC8, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, NEUROD1, PDX1 | 10.91 |
| 2 | Type 2 diabetes mellitus | Enrichment | ABCC8, GCK, HNF1A, HNF1B, HNF4A, INSR, IRS1, IRS2, KCNJ11, NEUROD1, PDX1, SLC2A2 | 10.79 |
| 3 | Permanent neonatal diabetes mellitus | Enrichment | ABCC8, GCK, INS, KCNJ11, PDX1 | 10.47 |
| 4 | Diabetes mellitus | Enrichment | GCK, HNF1A, INS, KCNJ11 | 8.32 |
| 5 | Maturity-onset diabetes of the young, type 3 | Enrichment | GCK, HNF1A, HNF4A | 7.50 |
| 6 | Neonatal diabetes mellitus | Enrichment | ABCC8, INS, KCNJ11 | 7.50 |
| 7 | Hyperinsulinemic hypoglycemia, familial, 1 | Enrichment | ABCC8, GCK, KCNJ11 | 6.80 |
| 8 | Nonsyndromic genetic hyperinsulinism | Enrichment | ABCC8, GCK, KCNJ11 | 6.80 |
| 9 | Maturity-onset diabetes of the young, type 1 | Enrichment | GCK, HNF4A | 5.39 |
| 10 | Diabetes mellitus, permanent neonatal, 1 | Enrichment | GCK, KCNJ11 | 5.39 |
| 11 | Hyperinsulinism | Enrichment | HNF4A, KCNJ11 | 5.39 |
| 12 | Hyperinsulinism due to hnf1a deficiency | Enrichment | HNF1A, HNF4A | 5.39 |
| 13 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.91 |
| 14 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.91 |
| 15 | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | Enrichment | CACNA1A, CACNA1C | 4.91 |
| 16 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.91 |
| 17 | Chromophobe renal cell carcinoma | Enrichment | HNF1A, HNF1B | 4.91 |
| 18 | Dend syndrome | Enrichment | ABCC8, KCNJ11 | 4.91 |
| 19 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 4.61 |
| 20 | Transient neonatal diabetes mellitus | Enrichment | ABCC8, KCNJ11 | 4.39 |
| 21 | Hypoglycemia | Enrichment | ABCC8, KCNJ11 | 4.39 |
| 22 | Ovarian cancer | Enrichment | AKT1, HNF1A, HNF1B, PIK3CA | 4.29 |
| 23 | Type 1 diabetes mellitus | Enrichment | HNF1A, INS | 4.21 |
| 24 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 4.21 |
| 25 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.83 |
| 26 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.74 |
| 27 | Meningioma | Enrichment | AKT1, PIK3CA | 3.57 |
| 28 | Renal cell carcinoma, nonpapillary | Enrichment | HNF1A, HNF1B | 3.37 |
| 29 | Breast cancer | Enrichment | AKT1, HNF1A, PIK3CA | 3.32 |
| 30 | Colorectal cancer | Enrichment | AKT1, PIK3CA, PIK3R1 | 3.13 |
| 31 | Prostate cancer | Enrichment | HNF1B, PIK3CA | 2.79 |
| 32 | Long qt syndrome 1 | Enrichment | CACNA1C, SLC2A2 | 2.76 |
| 33 | Macrodactyly | Enrichment | PIK3CA | 2.69 |
| 34 | Proteus syndrome | Enrichment | AKT1 | 2.69 |
| 35 | Insulinomatosis and diabetes mellitus | Enrichment | MAFA | 2.69 |
| 36 | Hepatic adenomas, familial | Enrichment | HNF1A | 2.69 |
| 37 | Pancreatic agenesis 1 | Enrichment | PDX1 | 2.69 |
| 38 | Donohue syndrome | Enrichment | INSR | 2.69 |
| 39 | Hyperinsulinemic hypoglycemia, familial, 2 | Enrichment | KCNJ11 | 2.69 |
| 40 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 2.69 |
| 41 | Maturity-onset diabetes of the young, type 4 | Enrichment | PDX1 | 2.69 |
| 42 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 2.69 |
| 43 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 2.69 |
| 44 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.69 |
| 45 | Maturity-onset diabetes of the young, type 6 | Enrichment | NEUROD1 | 2.69 |
| 46 | Maturity-onset diabetes of the young, type 2 | Enrichment | GCK | 2.69 |
| 47 | Prostate cancer, hereditary, 11 | Enrichment | HNF1B | 2.69 |
| 48 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.69 |
| 49 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | Enrichment | HNF4A | 2.69 |
| 50 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.69 |
| 51 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.69 |
| 52 | Maturity-onset diabetes of the young, type 12 | Enrichment | ABCC8 | 2.69 |
| 53 | Short syndrome | Enrichment | PIK3R1 | 2.69 |
| 54 | Oculoskeletodental syndrome | Enrichment | PIK3C2A | 2.69 |
| 55 | Diabetes mellitus, transient neonatal, 3 | Enrichment | KCNJ11 | 2.69 |
| 56 | Primary aldosteronism, seizures, and neurologic abnormalities | Enrichment | CACNA1D | 2.69 |
| 57 | Hyperinsulinemic hypoglycemia, familial, 3 | Enrichment | GCK | 2.69 |
| 58 | Brugada syndrome 3 | Enrichment | CACNA1C | 2.69 |
| 59 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.69 |
| 60 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.69 |
| 61 | Sinoatrial node dysfunction and deafness | Enrichment | CACNA1D | 2.69 |
| 62 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.69 |
| 63 | Cowden syndrome 6 | Enrichment | AKT1 | 2.69 |
| 64 | Diabetes mellitus, permanent neonatal, 2 | Enrichment | KCNJ11 | 2.69 |
| 65 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.69 |
| 66 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.69 |
| 67 | Maturity-onset diabetes of the young, type 13 | Enrichment | KCNJ11 | 2.69 |
| 68 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.69 |
| 69 | Type 1 diabetes mellitus 20 | Enrichment | HNF1A | 2.69 |
| 70 | Autosomal dominant hyperinsulinism due to sur1 deficiency | Enrichment | ABCC8 | 2.69 |
| 71 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.69 |
| 72 | Hypospadias | Enrichment | PIK3CA | 2.69 |
| 73 | Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency | Enrichment | ABCC8 | 2.69 |
| 74 | Gestational diabetes | Enrichment | GCK | 2.69 |
| 75 | Hyperinsulinism due to hnf4a deficiency | Enrichment | HNF4A | 2.69 |
| 76 | Rare venous malformation | Enrichment | PIK3CA | 2.69 |
| 77 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.69 |
| 78 | Congestive heart failure | Enrichment | ABCC8 | 2.69 |
| 79 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.69 |
| 80 | Sporadic hemiplegic migraine | Enrichment | CACNA1A | 2.69 |
| 81 | Atypical timothy syndrome | Enrichment | CACNA1C | 2.69 |
| 82 | Aldosterone-producing adenoma with seizures and neurological abnormalities | Enrichment | CACNA1D | 2.69 |
| 83 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.69 |
| 84 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.69 |
| 85 | Intermediate dend syndrome | Enrichment | KCNJ11 | 2.69 |
| 86 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.69 |
| 87 | Oculocerebrodental syndrome | Enrichment | PIK3C2A | 2.69 |
| 88 | Timothy syndrome type 2 | Enrichment | CACNA1C | 2.69 |
| 89 | Medullary sponge kidney | Enrichment | HNF1B | 2.69 |
| 90 | Renal dysplasia, bilateral | Enrichment | HNF1B | 2.69 |
| 91 | Unilateral multicystic dysplastic kidney | Enrichment | HNF1B | 2.69 |
| 92 | Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency | Enrichment | KCNJ11 | 2.69 |
| 93 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.69 |
| 94 | Renal dysplasia, unilateral | Enrichment | HNF1B | 2.69 |
| 95 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.69 |
| 96 | Timothy syndrome type 1 | Enrichment | CACNA1C | 2.69 |
| 97 | Autosomal recessive hyperinsulinism due to sur1 deficiency | Enrichment | ABCC8 | 2.69 |
| 98 | Macrodactyly of toe | Enrichment | PIK3CA | 2.69 |
| 99 | Cacna1c-related disorders | Enrichment | CACNA1C | 2.69 |
| 100 | Benign paroxysmal torticollis of infancy | Enrichment | CACNA1A | 2.69 |
| 101 | Autosomal dominant hyperinsulinism due to kir6.2 deficiency | Enrichment | KCNJ11 | 2.69 |
| 102 | Autosomal recessive hyperinsulinism due to kir6.2 deficiency | Enrichment | KCNJ11 | 2.69 |
| 103 | Cerebral palsy | Enrichment | CACNA1A, CACNA1C | 2.54 |
| 104 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 2.43 |
| 105 | Tubulointerstitial kidney disease, autosomal dominant 1 | Enrichment | HNF1B | 2.38 |
| 106 | Renal cysts and diabetes syndrome | Enrichment | HNF1B | 2.38 |
| 107 | Congenital anomalies of kidney and urinary tract 2 | Enrichment | HNF1B | 2.38 |
| 108 | Pancreas, dorsal, agenesis of | Enrichment | PDX1 | 2.38 |
| 109 | Fanconi-bickel syndrome | Enrichment | SLC2A2 | 2.38 |
| 110 | Timothy syndrome | Enrichment | CACNA1C | 2.38 |
| 111 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 2.38 |
| 112 | Alternating hemiplegia of childhood 1 | Enrichment | CACNA1A | 2.38 |
| 113 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 2.38 |
| 114 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.38 |
| 115 | Bone marrow failure syndrome 2 | Enrichment | GCK | 2.38 |
| 116 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.38 |
| 117 | Hypoglycemia, leucine-induced | Enrichment | ABCC8 | 2.38 |
| 118 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 2.38 |
| 119 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.38 |
| 120 | Diabetes mellitus, transient neonatal, 2 | Enrichment | ABCC8 | 2.38 |
| 121 | Long qt syndrome 8 | Enrichment | CACNA1C | 2.38 |
| 122 | Hyperproinsulinemia | Enrichment | INS | 2.38 |
| 123 | Hyperuricemic nephropathy, familial juvenile, 3 | Enrichment | HNF1B | 2.38 |
| 124 | Bladder exstrophy | Enrichment | ISL1 | 2.38 |
| 125 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.38 |
| 126 | Diabetes mellitus, permanent neonatal, 3 | Enrichment | ABCC8 | 2.38 |
| 127 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 2.38 |
| 128 | Immune system disease | Enrichment | PIK3CD | 2.38 |
| 129 | Congenital disorder of glycosylation, type iw, autosomal dominant | Enrichment | CACNA1D | 2.38 |
| 130 | Progressive bulbar palsy | Enrichment | CACNA1A | 2.38 |
| 131 | Type 1 diabetes mellitus 2 | Enrichment | INS | 2.21 |
| 132 | Nijmegen breakage syndrome | Enrichment | GCK | 2.21 |
| 133 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.21 |
| 134 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | HNF1B | 2.21 |
| 135 | Chromosome 17q12 deletion syndrome | Enrichment | HNF1B | 2.21 |
| 136 | Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | Enrichment | HNF1A | 2.21 |
| 137 | Hyperinsulinemic hypoglycemia | Enrichment | ABCC8 | 2.21 |
| 138 | Keratoacanthoma | Enrichment | PIK3CA | 2.21 |
| 139 | Hereditary episodic ataxia | Enrichment | CACNA1A | 2.21 |
| 140 | Migraine, familial hemiplegic, 1 | Enrichment | CACNA1A | 2.08 |
| 141 | Spinocerebellar ataxia 6 | Enrichment | CACNA1A | 2.08 |
| 142 | Dermatitis, atopic | Enrichment | KCNJ11 | 2.08 |
| 143 | Developmental and epileptic encephalopathy 2 | Enrichment | CACNA1A | 2.08 |
| 144 | Ventricular fibrillation, paroxysmal familial, 1 | Enrichment | CACNA1C | 2.08 |
| 145 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 2.08 |
| 146 | Developmental and epileptic encephalopathy 42 | Enrichment | CACNA1A | 2.08 |
| 147 | Developmental and epileptic encephalopathy 52 | Enrichment | CACNA1A | 2.08 |
| 148 | Cerebrovascular disease | Enrichment | PIK3CA | 2.08 |
| 149 | Newborn respiratory distress syndrome | Enrichment | ABCC8 | 2.08 |
| 150 | Episodic ataxia | Enrichment | CACNA1A | 2.08 |
| 151 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.08 |
| 152 | Familial or sporadic hemiplegic migraine | Enrichment | CACNA1A | 2.08 |
| 153 | Clear cell papillary renal cell carcinoma | Enrichment | HNF1A | 2.08 |
| 154 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.99 |
| 155 | Episodic ataxia, type 2 | Enrichment | CACNA1A | 1.99 |
| 156 | Heart conduction disease | Enrichment | CACNA1C | 1.99 |
| 157 | Polyhydramnios | Enrichment | ABCC8 | 1.99 |
| 158 | Hemimegalencephaly | Enrichment | PIK3CA | 1.99 |
| 159 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.91 |
| 160 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.91 |
| 161 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.91 |
| 162 | Clear cell renal cell carcinoma | Enrichment | HNF1A | 1.91 |
| 163 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.91 |
| 164 | Hypertrichosis | Enrichment | KCNJ11 | 1.91 |
| 165 | 46,xy disorder of sex development | Enrichment | INSR | 1.91 |
| 166 | Nevus, epidermal | Enrichment | PIK3CA | 1.84 |
| 167 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.84 |
| 168 | Gallbladder cancer | Enrichment | PIK3CA | 1.84 |
| 169 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.84 |
| 170 | Gastroesophageal reflux | Enrichment | ABCC8 | 1.79 |
| 171 | Lennox-gastaut syndrome | Enrichment | CACNA1A | 1.79 |
| 172 | Alternating hemiplegia of childhood | Enrichment | CACNA1A | 1.79 |
| 173 | Difference of sex development | Enrichment | CACNA1A | 1.79 |
| 174 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | CACNA1C | 1.73 |
| 175 | Arteriovenous malformation | Enrichment | PIK3CA | 1.73 |
| 176 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.73 |
| 177 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.69 |
| 178 | Migraine with or without aura 1 | Enrichment | CACNA1A | 1.65 |
| 179 | Atrial heart septal defect | Enrichment | ABCC8 | 1.65 |
| 180 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.65 |
| 181 | Interatrial communication | Enrichment | ABCC8 | 1.65 |
| 182 | Cardiac conduction defect | Enrichment | CACNA1C | 1.61 |
| 183 | Digeorge syndrome | Enrichment | HNF1A | 1.61 |
| 184 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.61 |
| 185 | Congenital long qt syndrome | Enrichment | SLC2A2 | 1.61 |
| 186 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.58 |
| 187 | Lynch syndrome | Enrichment | PIK3CA | 1.52 |
| 188 | Polycystic liver disease | Enrichment | HNF4A | 1.46 |
| 189 | Autosomal dominant polycystic liver disease | Enrichment | HNF4A | 1.46 |
| 190 | Endometrial cancer | Enrichment | PIK3CA | 1.37 |
| 191 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.35 |
| 192 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | CACNA1C | 1.31 |
| 193 | Brugada syndrome | Enrichment | CACNA1C | 1.28 |
| 194 | Auditory neuropathy | Enrichment | CACNA1A | 1.28 |
| 195 | Strabismus | Enrichment | CACNA1A | 1.27 |
| 196 | Bladder cancer | Enrichment | PIK3CA | 1.23 |
| 197 | Long qt syndrome | Enrichment | CACNA1C | 1.21 |
| 198 | Lung cancer | Enrichment | PIK3CA | 1.19 |
| 199 | Cakut | Enrichment | HNF1B | 1.17 |
| 200 | Gastric cancer | Enrichment | PIK3CA | 1.07 |
| 201 | Hypertelorism | Enrichment | PIK3CA | 0.99 |
| 202 | Myeloma, multiple | Enrichment | PIK3R2 | 0.96 |
| 203 | Undetermined early-onset epileptic encephalopathy | Enrichment | CACNA1A | 0.96 |
| 204 | Congenital nervous system abnormality | Enrichment | CACNA1A | 0.70 |
| 205 | Nervous system disease | Enrichment | CACNA1A | 0.70 |
| 206 | Complex neurodevelopmental disorder | Enrichment | CACNA1C | 0.64 |
| 207 | Hereditary retinal dystrophy | Enrichment | NEUROD1 | 0.34 |
| 208 | Fundus dystrophy | Enrichment | NEUROD1 | 0.34 |