| 1 | Pick disease of brain | Enrichment | MAPT, PSEN1 | 4.76 |
| 2 | Alzheimer's disease | Enrichment | APP, MAPT, PSEN1 | 4.71 |
| 3 | Alzheimer disease, familial, 1 | Enrichment | APP, MAPT, PSEN1 | 4.34 |
| 4 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1, RET | 4.28 |
| 5 | Autism spectrum disorder | Enrichment | MAP1B, MARK2, MECP2, MEF2C, TCF4 | 4.04 |
| 6 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4, MAPT, MEF2C, PSEN1 | 4.00 |
| 7 | Haddad syndrome | Enrichment | ASCL1, RET | 3.98 |
| 8 | Tetralogy of fallot | Enrichment | JAG1, NOTCH1, RET | 3.77 |
| 9 | Dementia | Enrichment | MAPT, PSEN1 | 3.76 |
| 10 | Differentiated thyroid carcinoma | Enrichment | NTRK1, NTRK3, RET | 3.62 |
| 11 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF, PAX6 | 3.59 |
| 12 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NGF, NTRK1 | 3.44 |
| 13 | Semantic dementia | Enrichment | MAPT, PSEN1 | 3.44 |
| 14 | Early-onset autosomal dominant alzheimer disease | Enrichment | APP, PSEN1 | 3.44 |
| 15 | Congenital central hypoventilation syndrome | Enrichment | BDNF, RET | 3.21 |
| 16 | Progressive non-fluent aphasia | Enrichment | MAPT, PSEN1 | 3.21 |
| 17 | Behavioral variant of frontotemporal dementia | Enrichment | MAPT, PSEN1 | 3.21 |
| 18 | Frontotemporal dementia 1 | Enrichment | MAPT, PSEN1 | 3.03 |
| 19 | Autosomal dominant non-syndromic intellectual disability | Enrichment | DLL1, ERBB4, TCF4 | 2.92 |
| 20 | Stereotypic movement disorder | Enrichment | MECP2, TCF4 | 2.88 |
| 21 | Macs syndrome | Enrichment | PAX6, SOX2 | 2.50 |
| 22 | Lissencephaly | Enrichment | PAFAH1B1, RELN | 2.46 |
| 23 | Attention deficit-hyperactivity disorder | Enrichment | MAP1B, MECP2 | 2.42 |
| 24 | Microphthalmia | Enrichment | PAX6, SOX2 | 2.42 |
| 25 | Multiple endocrine neoplasia, type iib | Enrichment | RET | 2.38 |
| 26 | Arthritis, sacroiliac | Enrichment | RELN | 2.38 |
| 27 | Facial hypertrichosis | Enrichment | MECP2 | 2.38 |
| 28 | Diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency | Enrichment | NEUROG3 | 2.38 |
| 29 | Maturity-onset diabetes of the young, type 6 | Enrichment | NEUROD1 | 2.38 |
| 30 | Cone-rod dystrophy 10 | Enrichment | SEMA4A | 2.38 |
| 31 | Lissencephaly 7 with cerebellar hypoplasia | Enrichment | CDK5 | 2.38 |
| 32 | Charcot-marie-tooth disease, axonal, type 2hh | Enrichment | JAG1 | 2.38 |
| 33 | Intellectual developmental disorder, x-linked, syndromic, lubs type | Enrichment | MECP2 | 2.38 |
| 34 | Developmental and epileptic encephalopathy 58 | Enrichment | NTRK2 | 2.38 |
| 35 | Agammaglobulinemia 8b, autosomal recessive | Enrichment | TCF3 | 2.38 |
| 36 | Autism x-linked 3 | Enrichment | MECP2 | 2.38 |
| 37 | Parkinson-dementia syndrome | Enrichment | MAPT | 2.38 |
| 38 | Intellectual developmental disorder, autosomal dominant 76 | Enrichment | MARK2 | 2.38 |
| 39 | Supranuclear palsy, progressive, 1 | Enrichment | MAPT | 2.38 |
| 40 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.38 |
| 41 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 2.38 |
| 42 | Retinitis pigmentosa 35 | Enrichment | SEMA4A | 2.38 |
| 43 | Deafness, autosomal dominant 83 | Enrichment | MAP1B | 2.38 |
| 44 | Agammaglobulinemia 8a, autosomal dominant | Enrichment | TCF3 | 2.38 |
| 45 | Progressive supranuclear palsy | Enrichment | MAPT | 2.38 |
| 46 | Ataxia-telangiectasia-like disorder 1 | Enrichment | MRE11 | 2.38 |
| 47 | Cerebral amyloid angiopathy, app-related | Enrichment | APP | 2.38 |
| 48 | Cardiomyopathy, dilated, 1u | Enrichment | PSEN1 | 2.38 |
| 49 | Cleft palate, psychomotor retardation, and distinctive facial features | Enrichment | KDM1A | 2.38 |
| 50 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 2.38 |
| 51 | Spinocerebellar ataxia 37 | Enrichment | DAB1 | 2.38 |
| 52 | Synovitis | Enrichment | RELN | 2.38 |
| 53 | Syndromic x-linked intellectual disability lubs type | Enrichment | MECP2 | 2.38 |
| 54 | Obesity, hyperphagia, and developmental delay | Enrichment | NTRK2 | 2.38 |
| 55 | Acne inversa, familial, 3 | Enrichment | PSEN1 | 2.38 |
| 56 | Corneal dystrophy, fuchs endothelial, 3 | Enrichment | TCF4 | 2.38 |
| 57 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.38 |
| 58 | Deafness, congenital heart defects, and posterior embryotoxon | Enrichment | JAG1 | 2.38 |
| 59 | Classic progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.38 |
| 60 | Cerebellar hypoplasia | Enrichment | VLDLR | 2.38 |
| 61 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | Enrichment | KDM1A | 2.38 |
| 62 | Atypical progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.38 |
| 63 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.38 |
| 64 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 2.38 |
| 65 | Acth-independent macronodular adrenal hyperplasia 3 | Enrichment | KDM1A | 2.38 |
| 66 | Thyroid cancer | Enrichment | RET | 2.38 |
| 67 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 2.38 |
| 68 | Lissencephaly due to lis1 mutation | Enrichment | PAFAH1B1 | 2.38 |
| 69 | Mef2c-related disorder | Enrichment | MEF2C | 2.38 |
| 70 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.38 |
| 71 | Gastrointestinal system disease | Enrichment | RET | 2.38 |
| 72 | Multiple endocrine neoplasia | Enrichment | RET | 2.38 |
| 73 | Keratitis, hereditary | Enrichment | PAX6 | 2.08 |
| 74 | Cerebral amyloid angiopathy, cst3-related | Enrichment | APP | 2.08 |
| 75 | Burkitt lymphoma | Enrichment | MYC | 2.08 |
| 76 | Sveinsson chorioretinal atrophy | Enrichment | SEMA4A | 2.08 |
| 77 | Foveal hypoplasia 1 | Enrichment | PAX6 | 2.08 |
| 78 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 2.08 |
| 79 | Encephalopathy, neonatal severe, due to mecp2 mutations | Enrichment | MECP2 | 2.08 |
| 80 | Alzheimer disease 3 | Enrichment | PSEN1 | 2.08 |
| 81 | Lissencephaly 1 | Enrichment | PAFAH1B1 | 2.08 |
| 82 | Optic nerve hypoplasia, bilateral | Enrichment | PAX6 | 2.08 |
| 83 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 2.08 |
| 84 | Schizophrenia 9 | Enrichment | DISC1 | 2.08 |
| 85 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 2.08 |
| 86 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | Enrichment | DLL1 | 2.08 |
| 87 | Congenital heart defects, multiple types, 9 | Enrichment | PLXND1 | 2.08 |
| 88 | Intellectual developmental disorder, x-linked, syndromic 13 | Enrichment | MECP2 | 2.08 |
| 89 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome | Enrichment | VLDLR | 2.08 |
| 90 | Periventricular nodular heterotopia 9 | Enrichment | MAP1B | 2.08 |
| 91 | X-linked intellectual disability-psychosis-macroorchidism syndrome | Enrichment | MECP2 | 2.08 |
| 92 | Congenital mesoblastic nephroma | Enrichment | NTRK3 | 2.08 |
| 93 | Medullary thyroid carcinoma | Enrichment | RET | 2.08 |
| 94 | Fibrosarcoma | Enrichment | NTRK3 | 2.08 |
| 95 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | Enrichment | TCF3 | 2.08 |
| 96 | Arthritis | Enrichment | RELN | 2.08 |
| 97 | B-lymphoblastic leukemia/lymphoma with t(17;19) | Enrichment | TCF3 | 2.08 |
| 98 | Progressive bulbar palsy | Enrichment | MECP2 | 2.08 |
| 99 | Bruxism | Enrichment | MECP2 | 2.08 |
| 100 | Ovarian cancer | Enrichment | MRE11, NTRK1, RET | 2.06 |
| 101 | Congenital nervous system abnormality | Enrichment | MECP2, PSEN1, VLDLR | 2.00 |
| 102 | Nervous system disease | Enrichment | MECP2, PSEN1, VLDLR | 2.00 |
| 103 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.90 |
| 104 | Laryngomalacia | Enrichment | MECP2 | 1.90 |
| 105 | Alagille syndrome 1 | Enrichment | JAG1 | 1.90 |
| 106 | Gillespie syndrome | Enrichment | PAX6 | 1.90 |
| 107 | Band heterotopia | Enrichment | PAFAH1B1 | 1.90 |
| 108 | Alzheimer disease 4 | Enrichment | PSEN1 | 1.90 |
| 109 | Chromosome 5q14.3 deletion syndrome, distal | Enrichment | MAP1B | 1.90 |
| 110 | Epilepsy, familial temporal lobe, 7 | Enrichment | RELN | 1.90 |
| 111 | Miller-dieker lissencephaly syndrome | Enrichment | PAFAH1B1 | 1.90 |
| 112 | Chromosome 17p13.3, centromeric, duplication syndrome | Enrichment | PAFAH1B1 | 1.90 |
| 113 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 1.90 |
| 114 | Hyper ige syndrome | Enrichment | STAT3 | 1.90 |
| 115 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.90 |
| 116 | Gingival overgrowth | Enrichment | RET | 1.90 |
| 117 | Pyloric stenosis | Enrichment | MAP1B | 1.90 |
| 118 | Kyphosis | Enrichment | RELN | 1.90 |
| 119 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | KDM1A | 1.90 |
| 120 | Keratoacanthoma | Enrichment | NOTCH1 | 1.90 |
| 121 | Epilepsy with auditory features | Enrichment | RELN | 1.90 |
| 122 | Aniridia 1 | Enrichment | PAX6 | 1.78 |
| 123 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Enrichment | MRE11 | 1.78 |
| 124 | Microphthalmia, syndromic 3 | Enrichment | SOX2 | 1.78 |
| 125 | Pitt-hopkins syndrome | Enrichment | TCF4 | 1.78 |
| 126 | Central hypoventilation syndrome, congenital, 1 | Enrichment | RET | 1.78 |
| 127 | Nijmegen breakage syndrome-like disorder | Enrichment | MRE11 | 1.78 |
| 128 | Eyelid coloboma | Enrichment | PAX6 | 1.78 |
| 129 | Sick sinus syndrome | Enrichment | MECP2 | 1.78 |
| 130 | Glioma | Enrichment | NTRK3 | 1.78 |
| 131 | Middle aortic syndrome | Enrichment | JAG1 | 1.78 |
| 132 | Lens coloboma | Enrichment | PAX6 | 1.78 |
| 133 | Body mass index quantitative trait locus 11 | Enrichment | BDNF, GHRL | 1.73 |
| 134 | Hypertelorism | Enrichment | PAX6, RET | 1.70 |
| 135 | Moebius syndrome | Enrichment | PLXND1 | 1.68 |
| 136 | Multiple endocrine neoplasia, type iia | Enrichment | RET | 1.68 |
| 137 | Myasthenic syndrome, congenital, 8 | Enrichment | AGRN | 1.68 |
| 138 | Chromosome 15q11.2 deletion syndrome | Enrichment | PAFAH1B1 | 1.68 |
| 139 | Lissencephaly 2 | Enrichment | RELN | 1.68 |
| 140 | Cholangitis, primary sclerosing | Enrichment | TCF4 | 1.68 |
| 141 | Fuchs' endothelial dystrophy | Enrichment | TCF4 | 1.68 |
| 142 | Aniridia | Enrichment | PAX6 | 1.68 |
| 143 | Coloboma of choroid and retina | Enrichment | PAX6 | 1.68 |
| 144 | Persistent truncus arteriosus | Enrichment | PLXND1 | 1.68 |
| 145 | Angelman syndrome | Enrichment | MECP2 | 1.60 |
| 146 | Coloboma of optic nerve | Enrichment | PAX6 | 1.60 |
| 147 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | PSEN1 | 1.60 |
| 148 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | Enrichment | VLDLR | 1.60 |
| 149 | Anterior segment dysgenesis 5 | Enrichment | PAX6 | 1.60 |
| 150 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | RET | 1.60 |
| 151 | Schizophrenia | Enrichment | RELN, RTN4R | 1.59 |
| 152 | Rett syndrome | Enrichment | MECP2 | 1.54 |
| 153 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.54 |
| 154 | Alzheimer's disease 1 | Enrichment | APP | 1.54 |
| 155 | Pilomyxoid astrocytoma | Enrichment | NTRK2 | 1.54 |
| 156 | Focal epilepsy | Enrichment | MECP2 | 1.54 |
| 157 | Spastic paraplegia 4, autosomal dominant | Enrichment | TCF4 | 1.48 |
| 158 | Renal hypodysplasia/aplasia 1 | Enrichment | RET | 1.48 |
| 159 | Rett syndrome, congenital variant | Enrichment | MECP2 | 1.48 |
| 160 | Hypothyroidism | Enrichment | RET | 1.48 |
| 161 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.48 |
| 162 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.48 |
| 163 | Autism | Enrichment | DISC1, MECP2 | 1.43 |
| 164 | Colonic benign neoplasm | Enrichment | MRE11 | 1.43 |
| 165 | Renal agenesis, bilateral | Enrichment | RET | 1.43 |
| 166 | Breast cancer | Enrichment | MRE11, RET | 1.40 |
| 167 | Cat eye syndrome | Enrichment | PAX6 | 1.38 |
| 168 | Peters-plus syndrome | Enrichment | PAX6 | 1.38 |
| 169 | Autosomal non-syndromic agammaglobulinemia | Enrichment | TCF3 | 1.38 |
| 170 | Nanophthalmos | Enrichment | SOX2 | 1.34 |
| 171 | Familial colorectal cancer type x | Enrichment | SEMA4A | 1.34 |
| 172 | Presynaptic congenital myasthenic syndromes | Enrichment | AGRN | 1.34 |
| 173 | Epicanthus | Enrichment | TCF4 | 1.31 |
| 174 | Septooptic dysplasia | Enrichment | SOX2 | 1.31 |
| 175 | Renal hypodysplasia/aplasia 3 | Enrichment | RET | 1.31 |
| 176 | Postsynaptic congenital myasthenic syndromes | Enrichment | AGRN | 1.31 |
| 177 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.27 |
| 178 | Microphthalmia/coloboma 12 | Enrichment | PAX6 | 1.27 |
| 179 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.27 |
| 180 | Nk-cell enteropathy | Enrichment | ERBB4 | 1.27 |
| 181 | Pheochromocytoma | Enrichment | RET | 1.24 |
| 182 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.24 |
| 183 | Periventricular nodular heterotopia | Enrichment | MAP1B | 1.24 |
| 184 | Congenital myasthenic syndrome | Enrichment | AGRN | 1.24 |
| 185 | Coloboma of macula | Enrichment | PAX6 | 1.21 |
| 186 | Anterior segment dysgenesis | Enrichment | PAX6 | 1.21 |
| 187 | Septopreoptic holoprosencephaly | Enrichment | DLL1 | 1.21 |
| 188 | Midline interhemispheric variant of holoprosencephaly | Enrichment | DLL1 | 1.21 |
| 189 | Microform holoprosencephaly | Enrichment | DLL1 | 1.19 |
| 190 | Lobar holoprosencephaly | Enrichment | DLL1 | 1.19 |
| 191 | Alobar holoprosencephaly | Enrichment | DLL1 | 1.16 |
| 192 | Heart, malformation of | Enrichment | JAG1 | 1.14 |
| 193 | Human immunodeficiency virus type 1 | Enrichment | CXCL12 | 1.14 |
| 194 | Semilobar holoprosencephaly | Enrichment | DLL1 | 1.14 |
| 195 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 1.11 |
| 196 | Maturity-onset diabetes of the young | Enrichment | NEUROD1 | 1.09 |
| 197 | Hepatoblastoma | Enrichment | JAG1 | 1.07 |
| 198 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | RET | 1.07 |
| 199 | Hepatocellular carcinoma | Enrichment | RET | 1.05 |
| 200 | Myocardial infarction | Enrichment | LRP8 | 1.05 |
| 201 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 1.03 |
| 202 | Microcephaly | Enrichment | MECP2, TCF4 | 1.03 |
| 203 | Parkinson disease, late-onset | Enrichment | MAPT | 1.02 |
| 204 | Scoliosis | Enrichment | RELN | 1.02 |
| 205 | Inherited cancer-predisposing syndrome | Enrichment | MRE11, RET | 0.97 |
| 206 | Hirschsprung disease 1 | Enrichment | RET | 0.94 |
| 207 | Hereditary retinal dystrophy | Enrichment | JAG1, NEUROD1, SEMA4A | 0.91 |
| 208 | Fundus dystrophy | Enrichment | JAG1, NEUROD1, SEMA4A | 0.91 |
| 209 | Connective tissue disease | Enrichment | NOTCH1 | 0.90 |
| 210 | Peripheral nervous system disease | Enrichment | NGF | 0.90 |
| 211 | Neuropathy | Enrichment | NGF | 0.90 |
| 212 | Dystonia | Enrichment | MECP2 | 0.86 |
| 213 | Non-syndromic x-linked intellectual disability | Enrichment | MECP2 | 0.85 |
| 214 | Systemic lupus erythematosus | Enrichment | MECP2 | 0.82 |
| 215 | Epilepsy | Enrichment | MECP2 | 0.81 |
| 216 | Benign epilepsy with centrotemporal spikes | Enrichment | RELN | 0.80 |
| 217 | Type 2 diabetes mellitus | Enrichment | NEUROD1 | 0.79 |
| 218 | Centralopathic epilepsy | Enrichment | RELN | 0.78 |
| 219 | West syndrome | Enrichment | NTRK2 | 0.77 |
| 220 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1 | 0.77 |
| 221 | Hereditary breast carcinoma | Enrichment | RET | 0.77 |
| 222 | Sensorineural hearing loss | Enrichment | RET | 0.74 |
| 223 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MAP1B | 0.71 |
| 224 | Spastic ataxia | Enrichment | DAB1 | 0.70 |
| 225 | Familial isolated dilated cardiomyopathy | Enrichment | PSEN1 | 0.70 |
| 226 | Hereditary breast ovarian cancer syndrome | Enrichment | MRE11 | 0.68 |
| 227 | Myeloma, multiple | Enrichment | TCF3 | 0.68 |
| 228 | Undetermined early-onset epileptic encephalopathy | Enrichment | NTRK2 | 0.68 |
| 229 | Primary ovarian insufficiency | Enrichment | NTRK1 | 0.66 |
| 230 | Cone-rod dystrophy 2 | Enrichment | SEMA4A | 0.60 |
| 231 | Colorectal cancer | Enrichment | RET | 0.51 |
| 232 | Retinitis pigmentosa | Enrichment | SEMA4A | 0.23 |