| 1 | Focal cortical dysplasia, type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 8.84 |
| 2 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 8.84 |
| 3 | Renal cell carcinoma, nonpapillary | Enrichment | BAP1, MTOR, PBRM1, SETD2, VHL | 7.61 |
| 4 | Meningioma | Enrichment | AKT1, BAP1, PDGFB, PTEN | 6.16 |
| 5 | Hemimegalencephaly | Enrichment | MTOR, PTEN, RHEB | 5.63 |
| 6 | Inherited cancer-predisposing syndrome | Enrichment | BAP1, EGFR, PDGFRA, PTEN, TSC1, TSC2, VHL | 4.73 |
| 7 | Lymphangioleiomyomatosis | Enrichment | TSC1, TSC2 | 4.41 |
| 8 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 4.41 |
| 9 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300, MTOR | 3.99 |
| 10 | Tuberous sclerosis 1 | Enrichment | TSC1, TSC2 | 3.94 |
| 11 | Hamartoma | Enrichment | TSC1, TSC2 | 3.94 |
| 12 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP, ZEB1 | 3.94 |
| 13 | Diffuse large b-cell lymphoma | Enrichment | CREBBP, PTEN, STAT3 | 3.67 |
| 14 | Tuberous sclerosis | Enrichment | TSC1, TSC2 | 3.64 |
| 15 | Primary hypereosinophilic syndrome | Enrichment | PDGFRA, PDGFRB | 3.42 |
| 16 | Ovarian cancer | Enrichment | AKT1, EGFR, PDGFRA, PTEN, TSC2 | 3.37 |
| 17 | Cowden syndrome 1 | Enrichment | EGFR, PTEN | 3.24 |
| 18 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 3.24 |
| 19 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 3.24 |
| 20 | Clear cell renal cell carcinoma | Enrichment | BAP1, PBRM1 | 3.24 |
| 21 | Bladder cancer | Enrichment | EGFR, PTEN, TSC1 | 3.11 |
| 22 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, PTEN | 3.10 |
| 23 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR, VHL | 3.10 |
| 24 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A, VHL | 3.10 |
| 25 | Hemolytic anemia | Enrichment | GPI, PKLR | 3.10 |
| 26 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 2.97 |
| 27 | Loeys-dietz syndrome | Enrichment | TGFB2, TGFB3 | 2.87 |
| 28 | Adult hepatocellular carcinoma | Enrichment | TSC1, TSC2 | 2.87 |
| 29 | Cowden syndrome | Enrichment | AKT1, PTEN | 2.87 |
| 30 | Meningioma, familial | Enrichment | PDGFB, PTEN | 2.69 |
| 31 | Corpus callosum, agenesis of | Enrichment | CREBBP, SETD2 | 2.41 |
| 32 | Kidney disease | Enrichment | CEP290, TSC1 | 2.41 |
| 33 | Isolated corpus callosum agenesis | Enrichment | CREBBP, SETD2 | 2.41 |
| 34 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP, SETD2 | 2.41 |
| 35 | Congenital nervous system abnormality | Enrichment | CEP290, CREBBP, PTEN, TSC2 | 2.36 |
| 36 | Nervous system disease | Enrichment | CEP290, CREBBP, PTEN, TSC2 | 2.36 |
| 37 | Autism spectrum disorder | Enrichment | HK1, PTEN, SETD2, TSC2 | 2.31 |
| 38 | Dandy-walker syndrome | Enrichment | PDGFRB, SETD2 | 2.30 |
| 39 | Myeloma, multiple | Enrichment | BAP1, CREBBP, KDM5C | 2.29 |
| 40 | Adenosine triphosphate, elevated, of erythrocytes | Enrichment | PKLR | 2.20 |
| 41 | Proteus syndrome | Enrichment | AKT1 | 2.20 |
| 42 | Paget disease of bone 3 | Enrichment | SQSTM1 | 2.20 |
| 43 | Neu-laxova syndrome 1 | Enrichment | PHGDH | 2.20 |
| 44 | Anemia, congenital, nonspherocytic hemolytic, 5 | Enrichment | HK1 | 2.20 |
| 45 | Anemia, congenital, nonspherocytic hemolytic, 2 | Enrichment | PKLR | 2.20 |
| 46 | D-lactic aciduria with gout | Enrichment | LDHD | 2.20 |
| 47 | Phosphoglycerate kinase 1 deficiency | Enrichment | PGK1 | 2.20 |
| 48 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.20 |
| 49 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.20 |
| 50 | Phosphoglycerate dehydrogenase deficiency | Enrichment | PHGDH | 2.20 |
| 51 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 2.20 |
| 52 | Stomatin-deficient cryohydrocytosis with neurologic defects | Enrichment | SLC2A1 | 2.20 |
| 53 | Short qt syndrome 3 | Enrichment | KCNJ2 | 2.20 |
| 54 | Melanoma, uveal 2 | Enrichment | BAP1 | 2.20 |
| 55 | Glycogen storage disease xiii | Enrichment | ENO3 | 2.20 |
| 56 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.20 |
| 57 | Short sleep, familial natural, 1 | Enrichment | BHLHE41 | 2.20 |
| 58 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.20 |
| 59 | Triosephosphate isomerase deficiency | Enrichment | TPI1 | 2.20 |
| 60 | Gist-plus syndrome | Enrichment | PDGFRA | 2.20 |
| 61 | Retinitis pigmentosa 79 | Enrichment | HK1 | 2.20 |
| 62 | Myopathy, distal, with rimmed vacuoles | Enrichment | SQSTM1 | 2.20 |
| 63 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | Enrichment | SQSTM1 | 2.20 |
| 64 | Intellectual developmental disorder, autosomal dominant 70 | Enrichment | SETD2 | 2.20 |
| 65 | Acetyl-coa carboxylase-alpha deficiency | Enrichment | ACACA | 2.20 |
| 66 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 2.20 |
| 67 | Phosphoserine aminotransferase deficiency | Enrichment | PSAT1 | 2.20 |
| 68 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.20 |
| 69 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.20 |
| 70 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.20 |
| 71 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.20 |
| 72 | Neuropathy, hereditary motor and sensory, russe type | Enrichment | HK1 | 2.20 |
| 73 | Neurodevelopmental disorder with visual defects and brain anomalies | Enrichment | HK1 | 2.20 |
| 74 | Lactate dehydrogenase b deficiency | Enrichment | LDHB | 2.20 |
| 75 | Epilepsy, idiopathic generalized 12 | Enrichment | SLC2A1 | 2.20 |
| 76 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.20 |
| 77 | Cowden syndrome 6 | Enrichment | AKT1 | 2.20 |
| 78 | Phosphoserine phosphatase deficiency | Enrichment | PSPH | 2.20 |
| 79 | Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | Enrichment | SHMT2 | 2.20 |
| 80 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.20 |
| 81 | Anemia, congenital, nonspherocytic hemolytic, 4 | Enrichment | GPI | 2.20 |
| 82 | Atrial fibrillation, familial, 9 | Enrichment | KCNJ2 | 2.20 |
| 83 | Glioma susceptibility 2 | Enrichment | PTEN | 2.20 |
| 84 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.20 |
| 85 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.20 |
| 86 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.20 |
| 87 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.20 |
| 88 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.20 |
| 89 | Tufted angioma of skin | Enrichment | KDR | 2.20 |
| 90 | Luscan-lumish syndrome | Enrichment | SETD2 | 2.20 |
| 91 | Neu-laxova syndrome 2 | Enrichment | PSAT1 | 2.20 |
| 92 | Rabin-pappas syndrome | Enrichment | SETD2 | 2.20 |
| 93 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.20 |
| 94 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.20 |
| 95 | Epilepsy with myoclonic absences | Enrichment | SLC2A1 | 2.20 |
| 96 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.20 |
| 97 | Neurometabolic disorder due to serine deficiency | Enrichment | PSAT1 | 2.20 |
| 98 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.20 |
| 99 | Silver-russell syndrome due to maternal uniparental disomy of chromosome 7 | Enrichment | GRB10 | 2.20 |
| 100 | Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency | Enrichment | PSPH | 2.20 |
| 101 | Male infertility due to obstructive azoospermia | Enrichment | PGK1 | 2.20 |
| 102 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.20 |
| 103 | Hereditary cryohydrocytosis with reduced stomatin | Enrichment | SLC2A1 | 2.20 |
| 104 | Retinal hemangioblastoma | Enrichment | VHL | 2.20 |
| 105 | Andersen cardiodysrhythmic periodic paralysis | Enrichment | KCNJ2 | 1.90 |
| 106 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 1.90 |
| 107 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.90 |
| 108 | Fanconi-bickel syndrome | Enrichment | LDHA | 1.90 |
| 109 | Fructose intolerance, hereditary | Enrichment | ALDOB | 1.90 |
| 110 | Glycogen storage disease vii | Enrichment | PFKM | 1.90 |
| 111 | Thumb deformity | Enrichment | CREBBP | 1.90 |
| 112 | Dystonia 9 | Enrichment | SLC2A1 | 1.90 |
| 113 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 1.90 |
| 114 | Bruck syndrome 2 | Enrichment | PLOD2 | 1.90 |
| 115 | Welander distal myopathy | Enrichment | SQSTM1 | 1.90 |
| 116 | Glut1 deficiency syndrome 1 | Enrichment | SLC2A1 | 1.90 |
| 117 | Congenital disorder of glycosylation, type it | Enrichment | PGM1 | 1.90 |
| 118 | Angioma, tufted | Enrichment | KDR | 1.90 |
| 119 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Enrichment | SQSTM1 | 1.90 |
| 120 | Microcephaly 21, primary, autosomal recessive | Enrichment | GAPDH | 1.90 |
| 121 | Cebalid syndrome | Enrichment | MTOR | 1.90 |
| 122 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 1.90 |
| 123 | Developmental and epileptic encephalopathy 88 | Enrichment | MDH1 | 1.90 |
| 124 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.90 |
| 125 | Infantile myofibromatosis | Enrichment | PDGFRB | 1.90 |
| 126 | Glucose transporter type 1 deficiency syndrome | Enrichment | SLC2A1 | 1.90 |
| 127 | Glycogen storage disease xii | Enrichment | ALDOA | 1.90 |
| 128 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 1.90 |
| 129 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.90 |
| 130 | Ocular melanoma | Enrichment | BAP1 | 1.90 |
| 131 | Paget's disease of bone | Enrichment | SQSTM1 | 1.90 |
| 132 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.90 |
| 133 | Kury-isidor syndrome | Enrichment | BAP1 | 1.90 |
| 134 | Short femur | Enrichment | PLOD2 | 1.90 |
| 135 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 1.90 |
| 136 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.90 |
| 137 | Bruck syndrome | Enrichment | PLOD2 | 1.90 |
| 138 | Acute leukemia of ambiguous lineage | Enrichment | VHL | 1.90 |
| 139 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 1.90 |
| 140 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.90 |
| 141 | Spastic paraplegia-paget disease of bone syndrome | Enrichment | SQSTM1 | 1.90 |
| 142 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.73 |
| 143 | Mesothelioma, malignant | Enrichment | BAP1 | 1.73 |
| 144 | Myasthenic syndrome, congenital, 6, presynaptic | Enrichment | VHL | 1.73 |
| 145 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.73 |
| 146 | Intellectual developmental disorder, x-linked, syndromic, claes-jensen type | Enrichment | KDM5C | 1.73 |
| 147 | Glut1 deficiency syndrome 2 | Enrichment | SLC2A1 | 1.73 |
| 148 | Corneal dystrophy, posterior polymorphous, 3 | Enrichment | ZEB1 | 1.73 |
| 149 | Senior-loken syndrome 6 | Enrichment | CEP290 | 1.73 |
| 150 | Cleft soft palate | Enrichment | PLOD2 | 1.73 |
| 151 | Corneal dystrophy, fuchs endothelial, 6 | Enrichment | ZEB1 | 1.73 |
| 152 | Joubert syndrome 5 | Enrichment | CEP290 | 1.73 |
| 153 | Meckel syndrome, type 6 | Enrichment | CEP290 | 1.73 |
| 154 | Tuberous sclerosis 2 | Enrichment | TSC2 | 1.73 |
| 155 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.73 |
| 156 | Tumor predisposition syndrome 1 | Enrichment | BAP1 | 1.73 |
| 157 | Primary polycythemia | Enrichment | VHL | 1.73 |
| 158 | Tethered spinal cord syndrome | Enrichment | CREBBP | 1.73 |
| 159 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 1.73 |
| 160 | Hyper ige syndrome | Enrichment | STAT3 | 1.73 |
| 161 | Chromosome 17q23.1-q23.2 deletion syndrome | Enrichment | SLC2A1 | 1.73 |
| 162 | Xanthinuria, type ii | Enrichment | TSC2 | 1.73 |
| 163 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.73 |
| 164 | Bap1 tumor predisposition syndrome | Enrichment | BAP1 | 1.73 |
| 165 | Cog7-congenital disorder of glycosylation | Enrichment | CEP290 | 1.73 |
| 166 | Occipital encephalocele | Enrichment | CEP290 | 1.73 |
| 167 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.73 |
| 168 | Syndromic x-linked intellectual disability claes-jensen type | Enrichment | KDM5C | 1.73 |
| 169 | Enchondromatosis | Enrichment | HIF1A | 1.73 |
| 170 | Erythrocytosis, familial, 2 | Enrichment | VHL | 1.60 |
| 171 | Paget disease of bone 2, early-onset | Enrichment | SQSTM1 | 1.60 |
| 172 | Meckel syndrome, type 4 | Enrichment | CEP290 | 1.60 |
| 173 | Au-kline syndrome | Enrichment | VHL | 1.60 |
| 174 | Bardet-biedl syndrome 14 | Enrichment | CEP290 | 1.60 |
| 175 | Corneal dystrophy | Enrichment | ZEB1 | 1.60 |
| 176 | Paget's disease of bone 2 | Enrichment | SQSTM1 | 1.60 |
| 177 | Vacterl association | Enrichment | CDH13 | 1.60 |
| 178 | Glioma | Enrichment | PTEN | 1.60 |
| 179 | Clear cell papillary renal cell carcinoma | Enrichment | PBRM1 | 1.60 |
| 180 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.51 |
| 181 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.51 |
| 182 | Fanconi anemia, complementation group d2 | Enrichment | VHL | 1.51 |
| 183 | Vater/vacterl association | Enrichment | CDH13 | 1.51 |
| 184 | Von hippel-lindau syndrome | Enrichment | VHL | 1.51 |
| 185 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.51 |
| 186 | Leber congenital amaurosis 10 | Enrichment | CEP290 | 1.51 |
| 187 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.51 |
| 188 | Pre-eclampsia | Enrichment | FLT1 | 1.51 |
| 189 | Fuchs' endothelial dystrophy | Enrichment | ZEB1 | 1.51 |
| 190 | Night blindness | Enrichment | CEP290 | 1.51 |
| 191 | Hemangioma | Enrichment | PTEN | 1.51 |
| 192 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.51 |
| 193 | Acute megakaryocytic leukemia | Enrichment | PTEN | 1.51 |
| 194 | Congenital short qt syndrome | Enrichment | KCNJ2 | 1.51 |
| 195 | West syndrome | Enrichment | SLC2A1, TSC2 | 1.51 |
| 196 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | TGFB2, TGFB3 | 1.51 |
| 197 | Hereditary breast carcinoma | Enrichment | AKT1, PTEN | 1.51 |
| 198 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.43 |
| 199 | Melanoma, uveal | Enrichment | BAP1 | 1.43 |
| 200 | Corneal dystrophy, posterior polymorphous, 1 | Enrichment | ZEB1 | 1.43 |
| 201 | Hemangioma, capillary infantile | Enrichment | KDR | 1.43 |
| 202 | Renal dysplasia, cystic | Enrichment | CEP290 | 1.43 |
| 203 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.43 |
| 204 | Keratoconus | Enrichment | TSC1 | 1.43 |
| 205 | Hereditary spherocytosis | Enrichment | GPI | 1.43 |
| 206 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.43 |
| 207 | Breast adenocarcinoma | Enrichment | AKT1 | 1.43 |
| 208 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.43 |
| 209 | Hypertrichosis | Enrichment | CREBBP | 1.43 |
| 210 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | VHL | 1.43 |
| 211 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.37 |
| 212 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.37 |
| 213 | Arima syndrome | Enrichment | CEP290 | 1.37 |
| 214 | Gastrointestinal stromal tumor | Enrichment | PDGFRA | 1.37 |
| 215 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.37 |
| 216 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.37 |
| 217 | Paroxysmal dystonia | Enrichment | SLC2A1 | 1.37 |
| 218 | Overgrowth syndrome | Enrichment | MTOR | 1.37 |
| 219 | Glioma susceptibility 1 | Enrichment | BAP1 | 1.31 |
| 220 | Immunodeficiency 47 | Enrichment | CEP290 | 1.31 |
| 221 | Ewing sarcoma | Enrichment | BAP1 | 1.31 |
| 222 | Alternating hemiplegia of childhood | Enrichment | SLC2A1 | 1.31 |
| 223 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.31 |
| 224 | Charge syndrome | Enrichment | EP300 | 1.26 |
| 225 | Myoclonic-atonic epilepsy | Enrichment | SLC2A1 | 1.26 |
| 226 | Behavioral variant of frontotemporal dementia | Enrichment | SQSTM1 | 1.26 |
| 227 | Marfan syndrome | Enrichment | TGFB2 | 1.22 |
| 228 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Enrichment | SQSTM1 | 1.22 |
| 229 | Melanoma | Enrichment | PTEN | 1.22 |
| 230 | Glycogen storage disease | Enrichment | PFKM | 1.18 |
| 231 | Lung non-small cell carcinoma | Enrichment | EGFR | 1.18 |
| 232 | Uterine corpus cancer | Enrichment | PTEN | 1.18 |
| 233 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.14 |
| 234 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.14 |
| 235 | Lip and oral cavity carcinoma | Enrichment | EGFR | 1.14 |
| 236 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | PLOD2 | 1.11 |
| 237 | Senior-loken syndrome 1 | Enrichment | CEP290 | 1.11 |
| 238 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.11 |
| 239 | Clubfoot | Enrichment | PLOD2 | 1.11 |
| 240 | Breast cancer | Enrichment | AKT1, PTEN | 1.10 |
| 241 | Pheochromocytoma | Enrichment | VHL | 1.07 |
| 242 | Lung cancer susceptibility 3 | Enrichment | EGFR | 1.07 |
| 243 | Heart disease | Enrichment | CREBBP | 1.07 |
| 244 | Cleft lip/palate | Enrichment | PDGFRA | 1.07 |
| 245 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 1.07 |
| 246 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.05 |
| 247 | Hydrocephalus | Enrichment | PDGFRB | 1.05 |
| 248 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 1.05 |
| 249 | Hydrocephalus, congenital, 1 | Enrichment | SETD2 | 1.02 |
| 250 | Rhabdomyosarcoma | Enrichment | PTEN | 1.02 |
| 251 | Gliosarcoma | Enrichment | EGFR | 1.02 |
| 252 | Melanoma, cutaneous malignant 1 | Enrichment | BAP1 | 0.99 |
| 253 | Congenital disorder of glycosylation, type in | Enrichment | PGM1 | 0.99 |
| 254 | Giant cell glioblastoma | Enrichment | EGFR | 0.99 |
| 255 | Colorectal cancer | Enrichment | AKT1, EP300 | 0.99 |
| 256 | Polycystic kidney disease | Enrichment | CEP290 | 0.97 |
| 257 | Arteriovenous malformations of the brain | Enrichment | EGFR | 0.95 |
| 258 | Ehlers-danlos syndrome | Enrichment | TGFB2 | 0.95 |
| 259 | Cardiomyopathy, dilated, 1a | Enrichment | RAPGEF5 | 0.91 |
| 260 | Endometrial cancer | Enrichment | PTEN | 0.91 |
| 261 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | VHL | 0.91 |
| 262 | Brittle bone disorder | Enrichment | PLOD2 | 0.87 |
| 263 | Familial atrial fibrillation | Enrichment | KCNJ2 | 0.85 |
| 264 | Scoliosis | Enrichment | CREBBP | 0.85 |
| 265 | Developmental and epileptic encephalopathy 1 | Enrichment | SLC2A1 | 0.84 |
| 266 | Tetralogy of fallot | Enrichment | KDR | 0.82 |
| 267 | Strabismus | Enrichment | SLC2A1 | 0.81 |
| 268 | Prostate cancer | Enrichment | PTEN | 0.78 |
| 269 | Meckel syndrome, type 1 | Enrichment | CEP290 | 0.78 |
| 270 | Microcephaly | Enrichment | EP300, SLC2A1 | 0.74 |
| 271 | Lung cancer | Enrichment | EGFR | 0.74 |
| 272 | Cystic fibrosis | Enrichment | TGFB1 | 0.74 |
| 273 | Nephronophthisis | Enrichment | CEP290 | 0.73 |
| 274 | Fanconi anemia, complementation group a | Enrichment | VHL | 0.70 |
| 275 | Cerebral palsy | Enrichment | PDGFRB | 0.66 |
| 276 | Epilepsy | Enrichment | SLC2A1 | 0.65 |
| 277 | Benign epilepsy with centrotemporal spikes | Enrichment | SLC2A1 | 0.64 |
| 278 | Bardet-biedl syndrome | Enrichment | CEP290 | 0.63 |
| 279 | Centralopathic epilepsy | Enrichment | SLC2A1 | 0.62 |
| 280 | Gastric cancer | Enrichment | PTEN | 0.62 |
| 281 | Joubert syndrome 1 | Enrichment | CEP290 | 0.57 |
| 282 | Spastic ataxia | Enrichment | CEP290 | 0.55 |
| 283 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN | 0.53 |
| 284 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | SQSTM1 | 0.51 |
| 285 | Primary ovarian insufficiency | Enrichment | KDR | 0.51 |
| 286 | Cone-rod dystrophy 2 | Enrichment | CEP290 | 0.46 |
| 287 | Autism | Enrichment | CREBBP | 0.44 |
| 288 | Retinitis pigmentosa | Enrichment | CEP290, HK1 | 0.42 |
| 289 | Leber plus disease | Enrichment | CEP290 | 0.35 |
| 290 | Complex neurodevelopmental disorder | Enrichment | BAP1 | 0.27 |
| 291 | Hereditary retinal dystrophy | Enrichment | CEP290, HK1 | 0.26 |
| 292 | Fundus dystrophy | Enrichment | CEP290, HK1 | 0.26 |