| 1 | Autism spectrum disorder | Enrichment | GRIA1, MECP2, MEF2C, NF1, PTEN, SMC3 | 4.59 |
| 2 | Myeloma, multiple | Enrichment | NF1, SGK1, TET2, TET3 | 3.64 |
| 3 | Insulin-like growth factor i | Enrichment | IGF1, IGF1R | 3.55 |
| 4 | Hemimegalencephaly | Enrichment | MTOR, PTEN | 3.55 |
| 5 | Angelman syndrome | Enrichment | MECP2, UBE3A | 3.37 |
| 6 | Rett syndrome | Enrichment | FOXG1, MECP2 | 3.23 |
| 7 | Rett syndrome, congenital variant | Enrichment | FOXG1, MECP2 | 3.11 |
| 8 | Isolated split hand-split foot malformation | Enrichment | DLX5, DLX6 | 3.11 |
| 9 | Cowden syndrome | Enrichment | AKT1, PTEN | 3.00 |
| 10 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Enrichment | FUS, TARDBP | 2.90 |
| 11 | Meningioma | Enrichment | AKT1, PTEN | 2.74 |
| 12 | Stereotypic movement disorder | Enrichment | FOXG1, MECP2 | 2.67 |
| 13 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A, GRIA1, GRIN1 | 2.61 |
| 14 | Congenital nervous system abnormality | Enrichment | FOXG1, GAMT, MECP2, PTEN | 2.60 |
| 15 | Nervous system disease | Enrichment | FOXG1, GAMT, MECP2, PTEN | 2.60 |
| 16 | Wilms tumor 1 | Enrichment | IGF2, REST | 2.54 |
| 17 | Rhabdomyosarcoma | Enrichment | NF1, PTEN | 2.49 |
| 18 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | FUS, MEF2C, TARDBP | 2.43 |
| 19 | Proteus syndrome | Enrichment | AKT1 | 2.27 |
| 20 | Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive | Enrichment | DLX5 | 2.27 |
| 21 | Intellectual developmental disorder, x-linked, syndromic 33 | Enrichment | TAF1 | 2.27 |
| 22 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.27 |
| 23 | Cornelia de lange syndrome 3 with or without midline brain defects | Enrichment | SMC3 | 2.27 |
| 24 | Dystonia 3, torsion, x-linked | Enrichment | TAF1 | 2.27 |
| 25 | Facial hypertrichosis | Enrichment | MECP2 | 2.27 |
| 26 | Tremor, hereditary essential, 4 | Enrichment | FUS | 2.27 |
| 27 | Wilms tumor 6 | Enrichment | REST | 2.27 |
| 28 | Intellectual developmental disorder, x-linked, syndromic, lubs type | Enrichment | MECP2 | 2.27 |
| 29 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.27 |
| 30 | Autism x-linked 3 | Enrichment | MECP2 | 2.27 |
| 31 | Intellectual developmental disorder, x-linked, syndromic, wu type | Enrichment | GRIA3 | 2.27 |
| 32 | Leukodystrophy, hypomyelinating, 20 | Enrichment | CNP | 2.27 |
| 33 | Developmental and epileptic encephalopathy 89 | Enrichment | GAD1 | 2.27 |
| 34 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 2.27 |
| 35 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.27 |
| 36 | Familial isolated trichomegaly | Enrichment | FGF5 | 2.27 |
| 37 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | Enrichment | GRIN1 | 2.27 |
| 38 | Deafness, autosomal dominant 27 | Enrichment | REST | 2.27 |
| 39 | Holoprosencephaly 11 | Enrichment | CDON | 2.27 |
| 40 | Cowden syndrome 6 | Enrichment | AKT1 | 2.27 |
| 41 | Syndromic x-linked intellectual disability lubs type | Enrichment | MECP2 | 2.27 |
| 42 | Developmental and epileptic encephalopathy 101 | Enrichment | GRIN1 | 2.27 |
| 43 | Glioma susceptibility 2 | Enrichment | PTEN | 2.27 |
| 44 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | Enrichment | GRIN1 | 2.27 |
| 45 | Fibromatosis, gingival, 5 | Enrichment | REST | 2.27 |
| 46 | Tet3-related beck-fahrner syndrome | Enrichment | TET3 | 2.27 |
| 47 | Neurodevelopmental disorder with or without seizures and gait abnormalities | Enrichment | GRIA4 | 2.27 |
| 48 | Ctcf-related disorder | Enrichment | CTCF | 2.27 |
| 49 | Spastic paraplegia 75, autosomal recessive | Enrichment | MAG | 2.27 |
| 50 | Intellectual developmental disorder, autosomal dominant 67 | Enrichment | GRIA1 | 2.27 |
| 51 | Beck-fahrner syndrome | Enrichment | TET3 | 2.27 |
| 52 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.27 |
| 53 | Intellectual developmental disorder, autosomal recessive 76 | Enrichment | GRIA1 | 2.27 |
| 54 | Plexiform neurofibroma | Enrichment | NF1 | 2.27 |
| 55 | Neurofibroma | Enrichment | NF1 | 2.27 |
| 56 | Short-rib thoracic dysplasia 22 without polydactyly | Enrichment | FGF4 | 2.27 |
| 57 | Syndromic x-linked intellectual disability 94 | Enrichment | GRIA3 | 2.27 |
| 58 | Neurofibromatosis | Enrichment | NF1 | 2.27 |
| 59 | Chromosome 15q24 deletion syndrome | Enrichment | SIN3A | 2.27 |
| 60 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | Enrichment | TAF1 | 2.27 |
| 61 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 2.27 |
| 62 | Chromosome 17q11.2 deletion syndrome | Enrichment | NF1 | 2.27 |
| 63 | Intellectual developmental disorder, autosomal dominant 75 | Enrichment | DHX9 | 2.27 |
| 64 | Optic nerve glioma | Enrichment | NF1 | 2.27 |
| 65 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 2.27 |
| 66 | Foxg1 syndrome due to intragenic alteration | Enrichment | FOXG1 | 2.27 |
| 67 | Split hand-foot malformation 1 with sensorineural hearing loss | Enrichment | DLX5 | 2.27 |
| 68 | Foxg1 syndrome due to 14q12 microdeletion | Enrichment | FOXG1 | 2.27 |
| 69 | 15q11q13 microduplication syndrome | Enrichment | UBE3A | 2.27 |
| 70 | Intellectual disability, autosomal dominant 8 | Enrichment | GRIN1 | 2.27 |
| 71 | Mef2c-related disorder | Enrichment | MEF2C | 2.27 |
| 72 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.27 |
| 73 | Tardbp-related predominantly upper-limb distal myopathy | Enrichment | TARDBP | 2.27 |
| 74 | Myelodysplastic neoplasm with increased blasts type 2 | Enrichment | TET2 | 2.27 |
| 75 | Myelodysplastic neoplasm with increased blasts type 1 | Enrichment | TET2 | 2.27 |
| 76 | Myelodysplastic neoplasm with low blasts | Enrichment | TET2 | 2.27 |
| 77 | Bladder cancer | Enrichment | NF1, PTEN | 1.98 |
| 78 | Cafe-au-lait spots, multiple | Enrichment | NF1 | 1.97 |
| 79 | Fibromatosis, gingival, 1 | Enrichment | REST | 1.97 |
| 80 | Otodental dysplasia | Enrichment | FGF3 | 1.97 |
| 81 | Apolipoprotein c-ii deficiency | Enrichment | APOC2 | 1.97 |
| 82 | Trichomegaly | Enrichment | FGF5 | 1.97 |
| 83 | Encephalopathy, neonatal severe, due to mecp2 mutations | Enrichment | MECP2 | 1.97 |
| 84 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.97 |
| 85 | Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia | Enrichment | FUS | 1.97 |
| 86 | Cerebral creatine deficiency syndrome 2 | Enrichment | GAMT | 1.97 |
| 87 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | Enrichment | FGF3 | 1.97 |
| 88 | Silver-russell syndrome 3 | Enrichment | IGF2 | 1.97 |
| 89 | Immunodeficiency 75 with lymphoproliferation | Enrichment | TET2 | 1.97 |
| 90 | Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | Enrichment | POU4F1 | 1.97 |
| 91 | Congenital disorder of glycosylation with defective fucosylation 1 | Enrichment | FUT8 | 1.97 |
| 92 | Cebalid syndrome | Enrichment | MTOR | 1.97 |
| 93 | Chromosome 17q11.2 duplication syndrome, 1.4-mb | Enrichment | NF1 | 1.97 |
| 94 | Intellectual developmental disorder, x-linked, syndromic 13 | Enrichment | MECP2 | 1.97 |
| 95 | Intravascular large b-cell lymphoma | Enrichment | BCL6 | 1.97 |
| 96 | Cerebral creatine deficiency syndrome | Enrichment | GAMT | 1.97 |
| 97 | Bilateral generalized polymicrogyria | Enrichment | GRIN1 | 1.97 |
| 98 | Intellectual developmental disorder, autosomal dominant 21 | Enrichment | CTCF | 1.97 |
| 99 | Familial apolipoprotein c-ii deficiency | Enrichment | APOC2 | 1.97 |
| 100 | X-linked intellectual disability-psychosis-macroorchidism syndrome | Enrichment | MECP2 | 1.97 |
| 101 | Witteveen-kolk syndrome | Enrichment | SIN3A | 1.97 |
| 102 | Bardet-biedl syndrome 9 | Enrichment | NF1 | 1.97 |
| 103 | Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | Enrichment | HNRNPH1 | 1.97 |
| 104 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.97 |
| 105 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.97 |
| 106 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 1.97 |
| 107 | Creatine deficiency disorders | Enrichment | GAMT | 1.97 |
| 108 | Primary mediastinal large b-cell lymphoma | Enrichment | BCL6 | 1.97 |
| 109 | Angelman syndrome due to maternal 15q11q13 deletion | Enrichment | UBE3A | 1.97 |
| 110 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.97 |
| 111 | Silver-russell syndrome due to an imprinting defect of 11p15 | Enrichment | IGF2 | 1.97 |
| 112 | Pleomorphic rhabdomyosarcoma | Enrichment | NF1 | 1.97 |
| 113 | Progressive bulbar palsy | Enrichment | MECP2 | 1.97 |
| 114 | Oculootodental syndrome | Enrichment | FGF3 | 1.97 |
| 115 | Silver-russell syndrome due to 11p15 microduplication | Enrichment | IGF2 | 1.97 |
| 116 | Bruxism | Enrichment | MECP2 | 1.97 |
| 117 | Colorectal cancer | Enrichment | AKT1, IGF2, RBFOX1 | 1.94 |
| 118 | Dystonia | Enrichment | GRIA3, MECP2 | 1.82 |
| 119 | Laryngomalacia | Enrichment | MECP2 | 1.79 |
| 120 | Myopia 2, autosomal dominant | Enrichment | CNP | 1.79 |
| 121 | Watson syndrome | Enrichment | NF1 | 1.79 |
| 122 | Weaver syndrome | Enrichment | EZH2 | 1.79 |
| 123 | Neurofibromatosis, familial spinal | Enrichment | NF1 | 1.79 |
| 124 | Chromosome 17q11.2 deletion syndrome, 1.4-mb | Enrichment | NF1 | 1.79 |
| 125 | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | Enrichment | POU4F1 | 1.79 |
| 126 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL6 | 1.79 |
| 127 | Myxoid liposarcoma | Enrichment | FUS | 1.79 |
| 128 | Brain cancer | Enrichment | NF1 | 1.79 |
| 129 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.79 |
| 130 | Desmoplastic/nodular medulloblastoma | Enrichment | CTCF | 1.79 |
| 131 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.79 |
| 132 | Myxofibrosarcoma | Enrichment | FUS | 1.79 |
| 133 | Melanoma of soft tissue | Enrichment | CREB1 | 1.79 |
| 134 | Myelodysplastic syndrome with ring sideroblasts | Enrichment | TET2 | 1.79 |
| 135 | Angelman syndrome due to imprinting defect in 15q11-q13 | Enrichment | UBE3A | 1.79 |
| 136 | Beckwith-wiedemann syndrome due to imprinting defect of 11p15 | Enrichment | IGF2 | 1.79 |
| 137 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN1, RBFOX1 | 1.69 |
| 138 | Intellectual developmental disorder, x-linked, syndromic, bain type | Enrichment | HNRNPH1 | 1.67 |
| 139 | Neurofibromatosis-noonan syndrome | Enrichment | NF1 | 1.67 |
| 140 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.67 |
| 141 | Mhc class i deficiency 1 | Enrichment | TAP1 | 1.67 |
| 142 | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | Enrichment | GAD1 | 1.67 |
| 143 | Mhc class i deficiency | Enrichment | TAP1 | 1.67 |
| 144 | Embryonal rhabdomyosarcoma | Enrichment | NF1 | 1.67 |
| 145 | Pilocytic astrocytoma | Enrichment | NF1 | 1.67 |
| 146 | Spastic quadriplegic cerebral palsy | Enrichment | GAD1 | 1.67 |
| 147 | Sick sinus syndrome | Enrichment | MECP2 | 1.67 |
| 148 | Intellectual disability, x-linked, syndromic, bain type | Enrichment | HNRNPH1 | 1.67 |
| 149 | Silver-russell syndrome due to a point mutation | Enrichment | IGF2 | 1.67 |
| 150 | Immunodeficiency by defective expression of mhc class i | Enrichment | TAP1 | 1.67 |
| 151 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | TET2 | 1.67 |
| 152 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.67 |
| 153 | Glioma | Enrichment | PTEN | 1.67 |
| 154 | Middle aortic syndrome | Enrichment | NF1 | 1.67 |
| 155 | Gingival fibromatosis | Enrichment | REST | 1.67 |
| 156 | Centralopathic epilepsy | Enrichment | GRIN1, RBFOX1 | 1.65 |
| 157 | Gastric cancer | Enrichment | NF1, PTEN | 1.65 |
| 158 | West syndrome | Enrichment | GRIA3, GRIN1 | 1.63 |
| 159 | Hereditary breast carcinoma | Enrichment | AKT1, PTEN | 1.63 |
| 160 | Rhabdomyosarcoma 2 | Enrichment | NF1 | 1.57 |
| 161 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.57 |
| 162 | Major depressive disorder | Enrichment | FKBP5 | 1.57 |
| 163 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | Enrichment | TARDBP | 1.57 |
| 164 | Follicular lymphoma | Enrichment | BCL6 | 1.57 |
| 165 | Hemangioma | Enrichment | PTEN | 1.57 |
| 166 | Acute megakaryocytic leukemia | Enrichment | PTEN | 1.57 |
| 167 | Aggressive systemic mastocytosis | Enrichment | TET2 | 1.57 |
| 168 | Body mass index quantitative trait locus 11 | Enrichment | BDNF, GRIA4 | 1.53 |
| 169 | Cowden syndrome 1 | Enrichment | PTEN | 1.50 |
| 170 | Split-hand/foot malformation 1 | Enrichment | DLX5 | 1.50 |
| 171 | Hemihyperplasia, isolated | Enrichment | IGF2 | 1.50 |
| 172 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF | 1.50 |
| 173 | Wiedemann-steiner syndrome | Enrichment | SMC3 | 1.50 |
| 174 | Breast adenocarcinoma | Enrichment | AKT1 | 1.50 |
| 175 | Inherited cancer-predisposing syndrome | Enrichment | EZH2, NF1, PTEN | 1.47 |
| 176 | Hereditary breast ovarian cancer syndrome | Enrichment | NF1, PTEN | 1.45 |
| 177 | Undetermined early-onset epileptic encephalopathy | Enrichment | FOXG1, RBFOX1 | 1.44 |
| 178 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.43 |
| 179 | Silver-russell syndrome 1 | Enrichment | IGF2 | 1.43 |
| 180 | Myelofibrosis | Enrichment | TET2 | 1.43 |
| 181 | Squamous cell carcinoma, head and neck | Enrichment | PTEN | 1.43 |
| 182 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.43 |
| 183 | Third-degree atrioventricular block | Enrichment | TET2 | 1.43 |
| 184 | Essential thrombocythemia | Enrichment | TET2 | 1.43 |
| 185 | Motor neuron disease | Enrichment | TARDBP | 1.43 |
| 186 | Focal epilepsy | Enrichment | MECP2 | 1.43 |
| 187 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.43 |
| 188 | Overgrowth syndrome | Enrichment | MTOR | 1.43 |
| 189 | Autosomal recessive non-syndromic intellectual disability | Enrichment | GRIA1, GRIN1 | 1.41 |
| 190 | Ewing sarcoma | Enrichment | NF1 | 1.37 |
| 191 | Cornelia de lange syndrome 1 | Enrichment | SMC3 | 1.32 |
| 192 | Neurofibromatosis, type i | Enrichment | NF1 | 1.32 |
| 193 | Leukemia, acute lymphoblastic 3 | Enrichment | NF1 | 1.32 |
| 194 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | TET2 | 1.32 |
| 195 | Congenital central hypoventilation syndrome | Enrichment | BDNF | 1.32 |
| 196 | Cornelia de lange syndrome | Enrichment | SMC3 | 1.32 |
| 197 | Juvenile amyotrophic lateral sclerosis | Enrichment | FUS | 1.32 |
| 198 | Optic nerve disease | Enrichment | FOXG1 | 1.28 |
| 199 | Melanoma | Enrichment | PTEN | 1.28 |
| 200 | Autism | Enrichment | MECP2, RBFOX1 | 1.24 |
| 201 | Asthma | Enrichment | FKBP5 | 1.24 |
| 202 | Meningioma, familial | Enrichment | PTEN | 1.24 |
| 203 | Myelodysplastic syndrome | Enrichment | TET2 | 1.24 |
| 204 | Uterine corpus cancer | Enrichment | PTEN | 1.24 |
| 205 | Breast cancer | Enrichment | AKT1, PTEN | 1.21 |
| 206 | Juvenile myelomonocytic leukemia | Enrichment | NF1 | 1.20 |
| 207 | Microphthalmia/coloboma 12 | Enrichment | CDON | 1.17 |
| 208 | Nk-cell enteropathy | Enrichment | IGF1R | 1.17 |
| 209 | Pheochromocytoma | Enrichment | NF1 | 1.14 |
| 210 | Pituitary stalk interruption syndrome | Enrichment | CDON | 1.14 |
| 211 | Coloboma of macula | Enrichment | CDON | 1.11 |
| 212 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.11 |
| 213 | Rare genetic intellectual disability | Enrichment | MTOR | 1.11 |
| 214 | Septopreoptic holoprosencephaly | Enrichment | CDON | 1.11 |
| 215 | Midline interhemispheric variant of holoprosencephaly | Enrichment | CDON | 1.11 |
| 216 | Isolated congenital microcephaly | Enrichment | FOXG1 | 1.08 |
| 217 | Microform holoprosencephaly | Enrichment | CDON | 1.08 |
| 218 | Lobar holoprosencephaly | Enrichment | CDON | 1.08 |
| 219 | Alobar holoprosencephaly | Enrichment | CDON | 1.06 |
| 220 | Beckwith-wiedemann syndrome | Enrichment | IGF2 | 1.03 |
| 221 | Early infantile developmental and epileptic encephalopathy | Enrichment | GRIN1 | 1.03 |
| 222 | Semilobar holoprosencephaly | Enrichment | CDON | 1.03 |
| 223 | Diffuse large b-cell lymphoma | Enrichment | PTEN | 1.01 |
| 224 | Parkinson's disease | Enrichment | GAMT | 1.01 |
| 225 | Ovarian cancer | Enrichment | AKT1, PTEN | 0.99 |
| 226 | Endometrial cancer | Enrichment | PTEN | 0.97 |
| 227 | Lissencephaly | Enrichment | FOXG1 | 0.97 |
| 228 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | NF1 | 0.97 |
| 229 | Attention deficit-hyperactivity disorder | Enrichment | MECP2 | 0.95 |
| 230 | Skin disease | Enrichment | NF1 | 0.95 |
| 231 | Parkinson disease, late-onset | Enrichment | GAMT | 0.92 |
| 232 | Developmental and epileptic encephalopathy 1 | Enrichment | GRIN1 | 0.90 |
| 233 | Rasopathy | Enrichment | NF1 | 0.88 |
| 234 | Strabismus | Enrichment | FOXG1 | 0.87 |
| 235 | Microcephaly | Enrichment | IGF1R, MECP2 | 0.85 |
| 236 | Prostate cancer | Enrichment | PTEN | 0.84 |
| 237 | Non-syndromic x-linked intellectual disability | Enrichment | MECP2 | 0.75 |
| 238 | Developmental and epileptic encephalopathy | Enrichment | GRIA3 | 0.75 |
| 239 | Systemic lupus erythematosus | Enrichment | MECP2 | 0.72 |
| 240 | Leukemia, acute myeloid | Enrichment | TET2 | 0.71 |
| 241 | Epilepsy | Enrichment | MECP2 | 0.71 |
| 242 | Charcot-marie-tooth disease | Enrichment | DHX9 | 0.70 |
| 243 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | REST | 0.61 |
| 244 | Schizophrenia | Enrichment | RBFOX1 | 0.56 |
| 245 | Complex neurodevelopmental disorder | Enrichment | GRIA4 | 0.31 |