| 1 | Rett syndrome | Direct | | |
| 2 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 6.14 |
| 3 | Epilepsy | Enrichment | GRIN2A, GRIN2B, MECP2 | 4.80 |
| 4 | Complex neurodevelopmental disorder | Enrichment | AGO1, AGO2, TNRC6B | 4.60 |
| 5 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3 | 4.29 |
| 6 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A, CAMK2B, DLL1, GRIN2B | 4.11 |
| 7 | Congenital nervous system abnormality | Enrichment | CAMK2B, FOXG1, GAMT, MECP2, PTEN | 3.92 |
| 8 | Nervous system disease | Enrichment | CAMK2B, FOXG1, GAMT, MECP2, PTEN | 3.92 |
| 9 | Huntington disease | Enrichment | HTT, SLC2A3 | 3.91 |
| 10 | Autism spectrum disorder | Enrichment | GRIN2B, MECP2, MEF2C, PTEN, TNRC6B | 3.86 |
| 11 | Rett syndrome, congenital variant | Enrichment | FOXG1, MECP2 | 3.80 |
| 12 | Facial hypertrichosis | Enrichment | MECP2 | 3.66 |
| 13 | Intellectual developmental disorder, x-linked, syndromic, lubs type | Enrichment | MECP2 | 3.66 |
| 14 | Autism x-linked 3 | Enrichment | MECP2 | 3.66 |
| 15 | Developmental and epileptic encephalopathy 89 | Enrichment | GAD1 | 3.66 |
| 16 | Syndromic x-linked intellectual disability lubs type | Enrichment | MECP2 | 3.66 |
| 17 | Autism | Enrichment | MECP2, RBFOX1 | 3.56 |
| 18 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 3.43 |
| 19 | Pparg-associated congenital generalized lipodystrophy | Enrichment | PPARG | 3.43 |
| 20 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 3.43 |
| 21 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 3.43 |
| 22 | Mef2c-related disorder | Enrichment | MEF2C | 3.43 |
| 23 | Colorectal cancer | Enrichment | PPARG, RBFOX1 | 3.40 |
| 24 | Stereotypic movement disorder | Enrichment | FOXG1, MECP2 | 3.36 |
| 25 | Encephalopathy, neonatal severe, due to mecp2 mutations | Enrichment | MECP2 | 3.35 |
| 26 | Intellectual developmental disorder, x-linked, syndromic 13 | Enrichment | MECP2 | 3.35 |
| 27 | X-linked intellectual disability-psychosis-macroorchidism syndrome | Enrichment | MECP2 | 3.35 |
| 28 | Progressive bulbar palsy | Enrichment | MECP2 | 3.35 |
| 29 | Bruxism | Enrichment | MECP2 | 3.35 |
| 30 | Global developmental delay with speech and behavioral abnormalities | Enrichment | TNRC6B | 3.29 |
| 31 | Epilepsy, familial adult myoclonic, 6 | Enrichment | TNRC6A | 3.29 |
| 32 | Chromosome 15q24 deletion syndrome | Enrichment | SIN3A | 3.23 |
| 33 | Laryngomalacia | Enrichment | MECP2 | 3.18 |
| 34 | Vacterl association with hydrocephalus | Enrichment | PTEN | 3.18 |
| 35 | Papillary tumor of the pineal region | Enrichment | PTEN | 3.18 |
| 36 | Glioma susceptibility 2 | Enrichment | PTEN | 3.18 |
| 37 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 3.18 |
| 38 | Carotid intimal medial thickness 1 | Enrichment | PPARG | 3.13 |
| 39 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 3.13 |
| 40 | Familial partial lipodystrophy | Enrichment | PPARG | 3.13 |
| 41 | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | Enrichment | GAD1 | 3.05 |
| 42 | Spastic quadriplegic cerebral palsy | Enrichment | GAD1 | 3.05 |
| 43 | Sick sinus syndrome | Enrichment | MECP2 | 3.05 |
| 44 | Premature ovarian failure 3 | Enrichment | AGO2 | 2.99 |
| 45 | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | Enrichment | AGO1 | 2.99 |
| 46 | Melanoma of soft tissue | Enrichment | CREB1 | 2.96 |
| 47 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | Enrichment | DLL1 | 2.93 |
| 48 | Witteveen-kolk syndrome | Enrichment | SIN3A | 2.93 |
| 49 | Epilepsy, focal, with speech disorder and with or without impaired intellectual development | Enrichment | GRIN2A | 2.90 |
| 50 | Developmental and epileptic encephalopathy 27 | Enrichment | GRIN2B | 2.90 |
| 51 | Spinocerebellar ataxia 41 | Enrichment | TRPC3 | 2.90 |
| 52 | Osteofibrous dysplasia | Enrichment | MET | 2.90 |
| 53 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.90 |
| 54 | Autism 9 | Enrichment | MET | 2.90 |
| 55 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | Enrichment | GRIN2B | 2.90 |
| 56 | Neurodevelopmental disorder with language impairment and behavioral abnormalities | Enrichment | GRIA2 | 2.90 |
| 57 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.90 |
| 58 | Grin2b-related neurodevelopmental disorder | Enrichment | GRIN2B | 2.90 |
| 59 | Landau-kleffner syndrome | Enrichment | GRIN2A | 2.90 |
| 60 | Gria2-related neurodevelopmental disorder | Enrichment | GRIA2 | 2.90 |
| 61 | Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation | Enrichment | GRIN2A | 2.90 |
| 62 | Grin2a-related disorders | Enrichment | GRIN2A | 2.90 |
| 63 | Angelman syndrome | Enrichment | MECP2 | 2.88 |
| 64 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.88 |
| 65 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.88 |
| 66 | Lipodystrophy, familial partial, type 3 | Enrichment | PPARG | 2.83 |
| 67 | Leptin deficiency or dysfunction | Enrichment | PPARG | 2.83 |
| 68 | Congenital generalized lipodystrophy | Enrichment | PPARG | 2.83 |
| 69 | Lessel-kreienkamp syndrome | Enrichment | AGO2 | 2.81 |
| 70 | Focal epilepsy | Enrichment | MECP2 | 2.81 |
| 71 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 2.70 |
| 72 | Hypothyroidism, congenital, nongoitrous, 8 | Enrichment | TBL1X | 2.61 |
| 73 | Greenberg dysplasia | Enrichment | LBR | 2.61 |
| 74 | Pelger-huet anomaly | Enrichment | LBR | 2.61 |
| 75 | Rhizomelic skeletal dysplasia with or without pelger-huet anomaly | Enrichment | LBR | 2.61 |
| 76 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.61 |
| 77 | Intellectual developmental disorder, autosomal dominant 54 | Enrichment | CAMK2B | 2.61 |
| 78 | Long qt syndrome 16 | Enrichment | CALM3 | 2.61 |
| 79 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.61 |
| 80 | Reynolds syndrome | Enrichment | LBR | 2.61 |
| 81 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.61 |
| 82 | Lopes-maciel-rodan syndrome | Enrichment | HTT | 2.61 |
| 83 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.61 |
| 84 | Intellectual developmental disorder, autosomal dominant 59 | Enrichment | CAMK2G | 2.61 |
| 85 | Long qt syndrome 15 | Enrichment | CALM2 | 2.61 |
| 86 | Foxg1 syndrome due to intragenic alteration | Enrichment | FOXG1 | 2.61 |
| 87 | Foxg1 syndrome due to 14q12 microdeletion | Enrichment | FOXG1 | 2.61 |
| 88 | Juvenile huntington disease | Enrichment | HTT | 2.61 |
| 89 | Childhood hepatocellular carcinoma | Enrichment | MET | 2.60 |
| 90 | Intellectual developmental disorder, autosomal dominant 21 | Enrichment | GRIN2A | 2.60 |
| 91 | Papillary renal cell carcinoma | Enrichment | MET | 2.60 |
| 92 | Rolandic epilepsy-speech dyspraxia syndrome | Enrichment | GRIN2A | 2.60 |
| 93 | Epilepsy-aphasia spectrum | Enrichment | GRIN2A | 2.60 |
| 94 | Long qt syndrome | Enrichment | CALM1, CALM2 | 2.59 |
| 95 | Glioma | Enrichment | PTEN | 2.58 |
| 96 | Dystonia | Enrichment | CAMK2B, MECP2 | 2.49 |
| 97 | Macrocephaly/autism syndrome | Enrichment | PTEN | 2.48 |
| 98 | Hemangioma | Enrichment | PTEN | 2.48 |
| 99 | Acute megakaryocytic leukemia | Enrichment | PTEN | 2.48 |
| 100 | Hemimegalencephaly | Enrichment | PTEN | 2.48 |
| 101 | Diffuse large b-cell lymphoma | Enrichment | PTEN, TBL1XR1 | 2.48 |
| 102 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF | 2.45 |
| 103 | Renal cell carcinoma | Enrichment | MET | 2.43 |
| 104 | Cowden syndrome 1 | Enrichment | PTEN | 2.40 |
| 105 | Autosomal dominant sleep-related hypermotor epilepsy | Enrichment | CRH | 2.38 |
| 106 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 2.33 |
| 107 | Squamous cell carcinoma, head and neck | Enrichment | PTEN | 2.33 |
| 108 | Follicular thyroid carcinoma | Enrichment | PTEN | 2.33 |
| 109 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | TNRC6B | 2.33 |
| 110 | Attention deficit-hyperactivity disorder | Enrichment | MECP2 | 2.31 |
| 111 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.31 |
| 112 | Long qt syndrome 14 | Enrichment | CALM1 | 2.31 |
| 113 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.31 |
| 114 | Astigmatism | Enrichment | GRIN2B | 2.30 |
| 115 | Congenital central hypoventilation syndrome | Enrichment | BDNF | 2.28 |
| 116 | Gliosarcoma | Enrichment | PPARG | 2.23 |
| 117 | Cowden syndrome | Enrichment | PTEN | 2.22 |
| 118 | Major depressive disorder | Enrichment | FKBP5 | 2.20 |
| 119 | Sleep disorder | Enrichment | GRIN2B | 2.20 |
| 120 | Giant cell glioblastoma | Enrichment | PPARG | 2.20 |
| 121 | Melanoma | Enrichment | PTEN | 2.18 |
| 122 | Meningioma, familial | Enrichment | PTEN | 2.14 |
| 123 | Uterine corpus cancer | Enrichment | PTEN | 2.14 |
| 124 | Pierpont syndrome | Enrichment | TBL1XR1 | 2.14 |
| 125 | Intellectual developmental disorder, autosomal dominant 41 | Enrichment | TBL1XR1 | 2.14 |
| 126 | Meningioma | Enrichment | PTEN | 2.10 |
| 127 | Non-syndromic x-linked intellectual disability | Enrichment | MECP2 | 2.10 |
| 128 | Systemic lupus erythematosus | Enrichment | MECP2 | 2.07 |
| 129 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 2.06 |
| 130 | Septopreoptic holoprosencephaly | Enrichment | DLL1 | 2.05 |
| 131 | Midline interhemispheric variant of holoprosencephaly | Enrichment | DLL1 | 2.05 |
| 132 | Cerebral creatine deficiency syndrome 2 | Enrichment | GAMT | 2.04 |
| 133 | Cerebral creatine deficiency syndrome | Enrichment | GAMT | 2.04 |
| 134 | Creatine deficiency disorders | Enrichment | GAMT | 2.04 |
| 135 | Microform holoprosencephaly | Enrichment | DLL1 | 2.03 |
| 136 | Lobar holoprosencephaly | Enrichment | DLL1 | 2.03 |
| 137 | Arthrogryposis, distal, type 1a | Enrichment | MET | 2.00 |
| 138 | Alobar holoprosencephaly | Enrichment | DLL1 | 2.00 |
| 139 | Microcephaly | Enrichment | GRIN2B, MECP2 | 1.99 |
| 140 | Rhabdomyosarcoma | Enrichment | PTEN | 1.98 |
| 141 | Semilobar holoprosencephaly | Enrichment | DLL1 | 1.98 |
| 142 | Differentiated thyroid carcinoma | Enrichment | PPARG | 1.97 |
| 143 | Asthma | Enrichment | FKBP5 | 1.86 |
| 144 | Endometrial cancer | Enrichment | PTEN | 1.86 |
| 145 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.84 |
| 146 | Benign epilepsy with centrotemporal spikes | Enrichment | RBFOX1 | 1.82 |
| 147 | Type 2 diabetes mellitus | Enrichment | PPARG | 1.81 |
| 148 | Centralopathic epilepsy | Enrichment | RBFOX1 | 1.80 |
| 149 | Microphthalmia, syndromic 3 | Enrichment | SOX2 | 1.74 |
| 150 | Pediatric systemic lupus erythematosus | Enrichment | IRAK1 | 1.74 |
| 151 | Body mass index quantitative trait locus 11 | Enrichment | PPARG | 1.74 |
| 152 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 1.73 |
| 153 | Bladder cancer | Enrichment | PTEN | 1.72 |
| 154 | Prostate cancer | Enrichment | PTEN | 1.72 |
| 155 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.71 |
| 156 | Undetermined early-onset epileptic encephalopathy | Enrichment | RBFOX1 | 1.69 |
| 157 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MEF2C | 1.67 |
| 158 | Schizophrenia | Enrichment | RBFOX1 | 1.67 |
| 159 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.66 |
| 160 | Optic nerve disease | Enrichment | FOXG1 | 1.62 |
| 161 | Craniosynostosis | Enrichment | GRIN2B | 1.61 |
| 162 | Myeloma, multiple | Enrichment | NCOR2, SGK1 | 1.57 |
| 163 | Hepatocellular carcinoma | Enrichment | MET | 1.56 |
| 164 | Gastric cancer | Enrichment | PTEN | 1.55 |
| 165 | Hereditary breast carcinoma | Enrichment | PTEN | 1.54 |
| 166 | Scoliosis | Enrichment | GRIN2B | 1.53 |
| 167 | Acute promyelocytic leukemia | Enrichment | TBL1XR1 | 1.51 |
| 168 | Nk-cell enteropathy | Enrichment | AURKB | 1.51 |
| 169 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN | 1.44 |
| 170 | Isolated congenital microcephaly | Enrichment | FOXG1 | 1.42 |
| 171 | Lung cancer | Enrichment | MET | 1.40 |
| 172 | Sudden infant death syndrome | Enrichment | CALM2 | 1.39 |
| 173 | Cerebral palsy | Enrichment | GRIN2B | 1.32 |
| 174 | Breast cancer | Enrichment | PTEN | 1.31 |
| 175 | Nanophthalmos | Enrichment | SOX2 | 1.31 |
| 176 | Lissencephaly | Enrichment | FOXG1 | 1.30 |
| 177 | Septooptic dysplasia | Enrichment | SOX2 | 1.27 |
| 178 | West syndrome | Enrichment | GRIN2B | 1.27 |
| 179 | Jeune thoracic dystrophy | Enrichment | LBR | 1.23 |
| 180 | Strabismus | Enrichment | FOXG1 | 1.20 |
| 181 | Ovarian cancer | Enrichment | PTEN | 1.19 |
| 182 | Asphyxiating thoracic dystrophy | Enrichment | LBR | 1.18 |
| 183 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | LBR | 1.11 |
| 184 | Parkinson's disease | Enrichment | GAMT | 1.08 |
| 185 | Inherited cancer-predisposing syndrome | Enrichment | PTEN | 1.07 |
| 186 | Macs syndrome | Enrichment | SOX2 | 1.06 |
| 187 | Microphthalmia | Enrichment | SOX2 | 1.02 |
| 188 | Parkinson disease, late-onset | Enrichment | GAMT | 0.98 |
| 189 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MET | 0.97 |