| 1 | Microcephaly | Enrichment | GNAO1, GRIN2B, HDAC8, KCNJ10, MECP2, SATB2, SCN1A, SMC1A, STXBP1, SYNGAP1, TCF4 | 11.74 |
| 2 | Autism spectrum disorder | Enrichment | ACTL6B, GRIN2B, KDM5B, MECP2, MEF2C, SATB2, SCN2A, SHANK3, STXBP1, TCF4 | 11.06 |
| 3 | Rett syndrome | Enrichment | CDKL5, FOXG1, GABBR2, MECP2, RHOBTB2 | 10.57 |
| 4 | Rett syndrome, congenital variant | Enrichment | CDKL5, FOXG1, GABBR2, MECP2, SMC1A | 10.39 |
| 5 | West syndrome | Enrichment | CDKL5, GNAO1, GRIN2B, SCN1A, SCN2A, SCN8A, STXBP1 | 9.81 |
| 6 | Stereotypic movement disorder | Enrichment | CDKL5, FOXG1, MECP2, SYNGAP1, TCF4 | 9.23 |
| 7 | Developmental and epileptic encephalopathy | Enrichment | CDKL5, GNAO1, SCN1A, SCN2A, SCN8A, STXBP1 | 8.59 |
| 8 | Focal epilepsy | Enrichment | CDKL5, MECP2, SCN2A, SCN8A | 8.32 |
| 9 | Epilepsy | Enrichment | GRIN2A, GRIN2B, MECP2, SCN1A, SCN2A, SCN8A | 8.30 |
| 10 | Autism | Enrichment | ACTL6B, CDKL5, MECP2, SCN1A, SCN2A, SCN8A, STXBP1 | 8.26 |
| 11 | Congenital nervous system abnormality | Enrichment | CDKL5, EIF2B2, FOXG1, GNAO1, KCNJ10, MECP2, SMC1A | 7.08 |
| 12 | Nervous system disease | Enrichment | CDKL5, EIF2B2, FOXG1, GNAO1, KCNJ10, MECP2, SMC1A | 7.08 |
| 13 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GRIN2B, HIVEP2, KDM5B, SCN8A, TCF4 | 6.07 |
| 14 | Undetermined early-onset epileptic encephalopathy | Enrichment | ACTL6B, FOXG1, GABBR2, SCN1A, SCN8A | 5.83 |
| 15 | Developmental and epileptic encephalopathy 1 | Enrichment | CDKL5, GNAO1, SCN1A, SCN8A | 5.78 |
| 16 | Complex neurodevelopmental disorder | Enrichment | ACTL6B, GRIN2B, HTT, SCN2A, SCN8A, SYNGAP1 | 5.33 |
| 17 | Dystonia | Enrichment | IMPDH2, MECP2, RHOBTB2, SATB2 | 5.18 |
| 18 | Developmental and epileptic encephalopathy 76 | Enrichment | ACTL6B, SCN1A | 4.91 |
| 19 | Bruxism | Enrichment | CDKL5, MECP2 | 4.91 |
| 20 | Generalized epilepsy with febrile seizures plus | Enrichment | GABRD, SCN1A, SCN2A | 4.83 |
| 21 | Early infantile developmental and epileptic encephalopathy | Enrichment | CDKL5, GNAO1, SCN2A | 4.49 |
| 22 | Nicolaides-baraitser syndrome | Enrichment | CDKL5, SMARCA2 | 4.14 |
| 23 | Developmental and epileptic encephalopathy 4 | Enrichment | CDKL5, STXBP1 | 4.14 |
| 24 | Smarca2-related nicolaides-baraitser syndrome | Enrichment | CDKL5, SMARCA2 | 4.14 |
| 25 | Self-limited infantile epilepsy | Enrichment | SCN2A, SCN8A | 3.91 |
| 26 | Angelman syndrome | Enrichment | CDKL5, MECP2 | 3.74 |
| 27 | Alternating hemiplegia of childhood | Enrichment | RHOBTB2, SCN2A | 3.47 |
| 28 | Choreatic disease | Enrichment | GNAO1, RHOBTB2 | 3.47 |
| 29 | Cerebral palsy | Enrichment | GRIN2B, SMARCA4, SYNE2 | 3.46 |
| 30 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN2A, SCN1A, SCN2A | 3.39 |
| 31 | Cornelia de lange syndrome 1 | Enrichment | HDAC8, SMC1A | 3.36 |
| 32 | Myoclonic-atonic epilepsy | Enrichment | SCN1A, SYNGAP1 | 3.36 |
| 33 | Developmental and epileptic encephalopathy 14 | Enrichment | SCN1A, SCN2A | 3.36 |
| 34 | Ventricular septal defect | Enrichment | BRAF, SMARCA4 | 3.36 |
| 35 | Cornelia de lange syndrome | Enrichment | HDAC8, SMC1A | 3.36 |
| 36 | Centralopathic epilepsy | Enrichment | GRIN2A, SCN1A, SCN2A | 3.33 |
| 37 | Dravet syndrome | Enrichment | SCN1A, SCN2A | 3.27 |
| 38 | Atrial heart septal defect | Enrichment | HDAC8, SMARCA4 | 3.18 |
| 39 | Movement disease | Enrichment | GNAO1, SCN2A | 3.18 |
| 40 | Interatrial communication | Enrichment | HDAC8, SMARCA4 | 3.18 |
| 41 | Spastic ataxia | Enrichment | SCN2A, STXBP1, SYNE2 | 3.07 |
| 42 | Cleft palate, isolated | Enrichment | SATB2, SMARCA4 | 2.79 |
| 43 | Diffuse large b-cell lymphoma | Enrichment | BRAF, TBL1XR1 | 2.70 |
| 44 | Epilepsy, focal, with speech disorder and with or without impaired intellectual development | Enrichment | GRIN2A | 2.45 |
| 45 | Developmental and epileptic encephalopathy 85 with or without midline brain defects | Enrichment | SMC1A | 2.45 |
| 46 | Hypothyroidism, congenital, nongoitrous, 8 | Enrichment | TBL1X | 2.45 |
| 47 | Facial hypertrichosis | Enrichment | MECP2 | 2.45 |
| 48 | Noonan syndrome 7 | Enrichment | BRAF | 2.45 |
| 49 | Leopard syndrome 3 | Enrichment | BRAF | 2.45 |
| 50 | Developmental and epileptic encephalopathy 11 | Enrichment | SCN2A | 2.45 |
| 51 | Neurodevelopmental disorder with involuntary movements | Enrichment | GNAO1 | 2.45 |
| 52 | Developmental and epileptic encephalopathy 27 | Enrichment | GRIN2B | 2.45 |
| 53 | Intellectual developmental disorder with severe speech and ambulation defects | Enrichment | ACTL6B | 2.45 |
| 54 | Intellectual developmental disorder, x-linked, syndromic, lubs type | Enrichment | MECP2 | 2.45 |
| 55 | Impdh2 enzyme activity, variation in | Enrichment | IMPDH2 | 2.45 |
| 56 | Autism x-linked 3 | Enrichment | MECP2 | 2.45 |
| 57 | Cornelia de lange syndrome 5 | Enrichment | HDAC8 | 2.45 |
| 58 | Neurodevelopmental disorder with poor language and loss of hand skills | Enrichment | GABBR2 | 2.45 |
| 59 | Developmental and epileptic encephalopathy 59 | Enrichment | GABBR2 | 2.45 |
| 60 | Myoclonus, familial, 2 | Enrichment | SCN8A | 2.45 |
| 61 | Epilepsy, x-linked 2, with or without impaired intellectual development and dysmorphic features | Enrichment | GABRA3 | 2.45 |
| 62 | Epilepsy, idiopathic generalized 10 | Enrichment | GABRD | 2.45 |
| 63 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 2.45 |
| 64 | Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance | Enrichment | KCNJ10 | 2.45 |
| 65 | Developmental and epileptic encephalopathy 17 | Enrichment | GNAO1 | 2.45 |
| 66 | Lymphangioma | Enrichment | BRAF | 2.45 |
| 67 | Phace association | Enrichment | BRAF | 2.45 |
| 68 | Intellectual developmental disorder, autosomal recessive 65 | Enrichment | KDM5B | 2.45 |
| 69 | Episodic ataxia, type 9 | Enrichment | SCN2A | 2.45 |
| 70 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | Enrichment | GRIN2B | 2.45 |
| 71 | Emery-dreifuss muscular dystrophy 5, autosomal dominant | Enrichment | SYNE2 | 2.45 |
| 72 | Benign familial infantile epilepsy | Enrichment | SCN2A | 2.45 |
| 73 | Syndromic x-linked intellectual disability lubs type | Enrichment | MECP2 | 2.45 |
| 74 | Cdkl5 deficiency disorder | Enrichment | CDKL5 | 2.45 |
| 75 | Corneal dystrophy, fuchs endothelial, 3 | Enrichment | TCF4 | 2.45 |
| 76 | Schizophrenia 15 | Enrichment | SHANK3 | 2.45 |
| 77 | Smarca4-deficient sarcoma of thorax | Enrichment | SMARCA4 | 2.45 |
| 78 | Ovarian small cell carcinoma | Enrichment | SMARCA4 | 2.45 |
| 79 | Deafness, autosomal dominant 75 | Enrichment | TRRAP | 2.45 |
| 80 | Lopes-maciel-rodan syndrome | Enrichment | HTT | 2.45 |
| 81 | Developmental and epileptic encephalopathy 64 | Enrichment | RHOBTB2 | 2.45 |
| 82 | Blepharophimosis-impaired intellectual development syndrome | Enrichment | SMARCA2 | 2.45 |
| 83 | Developmental delay with or without dysmorphic facies and autism | Enrichment | TRRAP | 2.45 |
| 84 | Leukoencephalopathy with vanishing white matter 2 | Enrichment | EIF2B2 | 2.45 |
| 85 | Grin2b-related neurodevelopmental disorder | Enrichment | GRIN2B | 2.45 |
| 86 | Landau-kleffner syndrome | Enrichment | GRIN2A | 2.45 |
| 87 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 2.45 |
| 88 | Mutism | Enrichment | SHANK3 | 2.45 |
| 89 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 2.45 |
| 90 | Foxg1 syndrome due to intragenic alteration | Enrichment | FOXG1 | 2.45 |
| 91 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.45 |
| 92 | Foxg1 syndrome due to 14q12 microdeletion | Enrichment | FOXG1 | 2.45 |
| 93 | Ganglioglioma | Enrichment | BRAF | 2.45 |
| 94 | Juvenile huntington disease | Enrichment | HTT | 2.45 |
| 95 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.45 |
| 96 | Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation | Enrichment | GRIN2A | 2.45 |
| 97 | Grin2a-related disorders | Enrichment | GRIN2A | 2.45 |
| 98 | Phace syndrome | Enrichment | BRAF | 2.45 |
| 99 | Gnao1-related disorder | Enrichment | GNAO1 | 2.45 |
| 100 | Mef2c-related disorder | Enrichment | MEF2C | 2.45 |
| 101 | Classic hairy cell leukemia | Enrichment | BRAF | 2.45 |
| 102 | Rare renal tubular disease | Enrichment | KCNJ10 | 2.45 |
| 103 | Strabismus | Enrichment | FOXG1, STXBP1 | 2.39 |
| 104 | Encephalopathy, neonatal severe, due to mecp2 mutations | Enrichment | MECP2 | 2.15 |
| 105 | Cornelia de lange syndrome 2 | Enrichment | SMC1A | 2.15 |
| 106 | Pulmonic stenosis | Enrichment | BRAF | 2.15 |
| 107 | Retinoschisis 1, x-linked, juvenile | Enrichment | CDKL5 | 2.15 |
| 108 | Seizures, benign familial infantile, 3 | Enrichment | SCN2A | 2.15 |
| 109 | Rhabdoid tumor predisposition syndrome 2 | Enrichment | SMARCA4 | 2.15 |
| 110 | Intellectual developmental disorder, autosomal recessive 5 | Enrichment | SYNGAP1 | 2.15 |
| 111 | Sifrim-hitz-weiss syndrome | Enrichment | CHD4 | 2.15 |
| 112 | Intellectual developmental disorder, autosomal dominant 43 | Enrichment | HIVEP2 | 2.15 |
| 113 | Migraine, familial hemiplegic, 3 | Enrichment | SCN1A | 2.15 |
| 114 | Syndactyly, type iii | Enrichment | HDAC8 | 2.15 |
| 115 | Cognitive impairment with or without cerebellar ataxia | Enrichment | SCN8A | 2.15 |
| 116 | Developmental and epileptic encephalopathy 6b | Enrichment | SCN1A | 2.15 |
| 117 | Intellectual developmental disorder, x-linked, syndromic 13 | Enrichment | MECP2 | 2.15 |
| 118 | Wilson-turner syndrome | Enrichment | HDAC8 | 2.15 |
| 119 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCA4 | 2.15 |
| 120 | Intellectual developmental disorder, autosomal dominant 21 | Enrichment | GRIN2A | 2.15 |
| 121 | X-linked intellectual disability-psychosis-macroorchidism syndrome | Enrichment | MECP2 | 2.15 |
| 122 | Benign familial neonatal epilepsy | Enrichment | SCN2A | 2.15 |
| 123 | Developmental and epileptic encephalopathy 30 | Enrichment | SCN2A | 2.15 |
| 124 | Phelan-mcdermid syndrome | Enrichment | SHANK3 | 2.15 |
| 125 | Psychotic disorder | Enrichment | SHANK3 | 2.15 |
| 126 | Otosclerosis 12 | Enrichment | SMARCA4 | 2.15 |
| 127 | Coffin-siris syndrome 4 | Enrichment | SMARCA4 | 2.15 |
| 128 | Scn1a seizure disorders | Enrichment | SCN1A | 2.15 |
| 129 | Seizures, benign familial infantile, 5 | Enrichment | SCN8A | 2.15 |
| 130 | 9q33.3q34.11 microdeletion syndrome | Enrichment | STXBP1 | 2.15 |
| 131 | Blepharophimosis - intellectual disability syndrome | Enrichment | SMARCA2 | 2.15 |
| 132 | Malignant migrating partial seizures of infancy | Enrichment | SCN2A | 2.15 |
| 133 | Rolandic epilepsy-speech dyspraxia syndrome | Enrichment | GRIN2A | 2.15 |
| 134 | Benign neonatal seizures | Enrichment | SCN2A | 2.15 |
| 135 | Retinoschisis | Enrichment | CDKL5 | 2.15 |
| 136 | Progressive bulbar palsy | Enrichment | MECP2 | 2.15 |
| 137 | Epilepsy-aphasia spectrum | Enrichment | GRIN2A | 2.15 |
| 138 | Non-syndromic x-linked intellectual disability | Enrichment | MECP2, SMARCA1 | 2.15 |
| 139 | Laryngomalacia | Enrichment | MECP2 | 1.98 |
| 140 | Dystonia 12 | Enrichment | SCN2A | 1.98 |
| 141 | Ataxia-telangiectasia | Enrichment | BRAF | 1.98 |
| 142 | Pierpont syndrome | Enrichment | TBL1XR1 | 1.98 |
| 143 | Langerhans cell histiocytosis | Enrichment | BRAF | 1.98 |
| 144 | Glass syndrome | Enrichment | SATB2 | 1.98 |
| 145 | Generalized epilepsy with febrile seizures plus, type 1 | Enrichment | SCN1A | 1.98 |
| 146 | Intellectual developmental disorder, autosomal dominant 5 | Enrichment | SYNGAP1 | 1.98 |
| 147 | Generalized epilepsy with febrile seizures plus, type 2 | Enrichment | SCN1A | 1.98 |
| 148 | Developmental and epileptic encephalopathy 13 | Enrichment | SCN8A | 1.98 |
| 149 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.98 |
| 150 | Intellectual developmental disorder, autosomal dominant 41 | Enrichment | TBL1XR1 | 1.98 |
| 151 | Gtp cyclohydrolase 1-deficient dopa-responsive dystonia | Enrichment | IMPDH2 | 1.98 |
| 152 | Thyrotoxic periodic paralysis | Enrichment | GABRA3 | 1.98 |
| 153 | Hereditary episodic ataxia | Enrichment | SCN2A | 1.98 |
| 154 | Episodic kinesigenic dyskinesia 1 | Enrichment | KCNJ10 | 1.85 |
| 155 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF | 1.85 |
| 156 | Huntington disease | Enrichment | HTT | 1.85 |
| 157 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.85 |
| 158 | Astigmatism | Enrichment | GRIN2B | 1.85 |
| 159 | Developmental and epileptic encephalopathy 2 | Enrichment | CDKL5 | 1.85 |
| 160 | Lipodystrophy, congenital generalized, type 2 | Enrichment | ACTL6B | 1.85 |
| 161 | Pitt-hopkins syndrome | Enrichment | TCF4 | 1.85 |
| 162 | Developmental and epileptic encephalopathy 12 | Enrichment | SCN2A | 1.85 |
| 163 | Tobacco addiction | Enrichment | GABBR2 | 1.85 |
| 164 | Blepharophimosis | Enrichment | SMARCA2 | 1.85 |
| 165 | Cardiofaciocutaneous syndrome | Enrichment | BRAF | 1.85 |
| 166 | Craniopharyngioma | Enrichment | BRAF | 1.85 |
| 167 | Noonan syndrome with multiple lentigines | Enrichment | BRAF | 1.85 |
| 168 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.85 |
| 169 | Episodic ataxia | Enrichment | SCN2A | 1.85 |
| 170 | Familial or sporadic hemiplegic migraine | Enrichment | SCN1A | 1.85 |
| 171 | Sick sinus syndrome | Enrichment | MECP2 | 1.85 |
| 172 | Myeloma, multiple | Enrichment | BRAF, NCOR2 | 1.78 |
| 173 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | Enrichment | KCNJ10 | 1.76 |
| 174 | Convulsions, familial infantile, with paroxysmal choreoathetosis | Enrichment | SCN8A | 1.76 |
| 175 | Cholangitis, primary sclerosing | Enrichment | TCF4 | 1.76 |
| 176 | Fuchs' endothelial dystrophy | Enrichment | TCF4 | 1.76 |
| 177 | Spastic diplegia | Enrichment | KCNJ10 | 1.76 |
| 178 | Sleep disorder | Enrichment | GRIN2B | 1.76 |
| 179 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | Enrichment | SYNE2 | 1.68 |
| 180 | Wilms tumor 5 | Enrichment | BRAF | 1.68 |
| 181 | Pendred syndrome | Enrichment | KCNJ10 | 1.68 |
| 182 | Wiedemann-steiner syndrome | Enrichment | SMC1A | 1.68 |
| 183 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF | 1.61 |
| 184 | Leukoencephalopathy with vanishing white matter 1 | Enrichment | EIF2B2 | 1.61 |
| 185 | Gallbladder cancer | Enrichment | BRAF | 1.61 |
| 186 | Pilomyxoid astrocytoma | Enrichment | BRAF | 1.61 |
| 187 | Follicular thyroid carcinoma | Enrichment | BRAF | 1.61 |
| 188 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF | 1.55 |
| 189 | Spastic paraplegia 4, autosomal dominant | Enrichment | TCF4 | 1.55 |
| 190 | Fanconi anemia, complementation group c | Enrichment | HDAC8 | 1.55 |
| 191 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.55 |
| 192 | Lennox-gastaut syndrome | Enrichment | SCN1A | 1.55 |
| 193 | Leukoencephalopathy with vanishing white matter 5 | Enrichment | EIF2B2 | 1.55 |
| 194 | Neuroblastoma | Enrichment | SMARCA4 | 1.55 |
| 195 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.50 |
| 196 | Leukoencephalopathy with vanishing white matter | Enrichment | EIF2B2 | 1.50 |
| 197 | Primary hyperaldosteronism | Enrichment | BRAF | 1.50 |
| 198 | Optic nerve disease | Enrichment | FOXG1 | 1.46 |
| 199 | Melanoma | Enrichment | BRAF | 1.46 |
| 200 | Epilepsy, myoclonic juvenile | Enrichment | GABRD | 1.42 |
| 201 | Epilepsy, idiopathic generalized | Enrichment | GABRD | 1.42 |
| 202 | Lung non-small cell carcinoma | Enrichment | BRAF | 1.42 |
| 203 | Epicanthus | Enrichment | TCF4 | 1.38 |
| 204 | Lip and oral cavity carcinoma | Enrichment | BRAF | 1.38 |
| 205 | Hypercholesterolemia, familial, 1 | Enrichment | SMARCA4 | 1.35 |
| 206 | Acute promyelocytic leukemia | Enrichment | TBL1XR1 | 1.35 |
| 207 | Premature menopause | Enrichment | EIF2B2 | 1.35 |
| 208 | Chromosome 1p36 deletion syndrome | Enrichment | GABRD | 1.35 |
| 209 | Lung cancer susceptibility 3 | Enrichment | BRAF | 1.31 |
| 210 | Pituitary stalk interruption syndrome | Enrichment | SMARCA2 | 1.31 |
| 211 | Coffin-siris syndrome 1 | Enrichment | SMARCA4 | 1.29 |
| 212 | Wilms tumor 1 | Enrichment | BRAF | 1.29 |
| 213 | Familial hypercholesterolemia | Enrichment | SMARCA4 | 1.29 |
| 214 | Rare genetic intellectual disability | Enrichment | GNAO1 | 1.29 |
| 215 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF | 1.29 |
| 216 | Isolated congenital microcephaly | Enrichment | FOXG1 | 1.26 |
| 217 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.23 |
| 218 | Dandy-walker syndrome | Enrichment | BRAF | 1.23 |
| 219 | Sudden infant death syndrome | Enrichment | SCN1A | 1.23 |
| 220 | Polycystic kidney disease | Enrichment | HDAC8 | 1.21 |
| 221 | Semilobar holoprosencephaly | Enrichment | SMC1A | 1.21 |
| 222 | Arteriovenous malformations of the brain | Enrichment | BRAF | 1.19 |
| 223 | Craniosynostosis | Enrichment | GRIN2B | 1.16 |
| 224 | Lissencephaly | Enrichment | FOXG1 | 1.14 |
| 225 | Attention deficit-hyperactivity disorder | Enrichment | MECP2 | 1.12 |
| 226 | Noonan syndrome 1 | Enrichment | BRAF | 1.11 |
| 227 | Brittle bone disorder | Enrichment | EIF2B2 | 1.11 |
| 228 | Malaria | Enrichment | SCN8A | 1.11 |
| 229 | Scoliosis | Enrichment | GRIN2B | 1.09 |
| 230 | Rasopathy | Enrichment | BRAF | 1.05 |
| 231 | Differentiated thyroid carcinoma | Enrichment | BRAF | 1.01 |
| 232 | Lung cancer | Enrichment | BRAF | 0.97 |
| 233 | Fetal akinesia deformation sequence 1 | Enrichment | SCN8A | 0.91 |
| 234 | Systemic lupus erythematosus | Enrichment | MECP2 | 0.89 |
| 235 | Distal arthrogryposis | Enrichment | SCN8A | 0.86 |
| 236 | Body mass index quantitative trait locus 11 | Enrichment | SCN1A | 0.79 |
| 237 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | TRRAP | 0.77 |
| 238 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MEF2C | 0.73 |
| 239 | Autosomal recessive non-syndromic intellectual disability | Enrichment | KDM5B | 0.73 |
| 240 | Primary ovarian insufficiency | Enrichment | EIF2B2 | 0.72 |
| 241 | Dilated cardiomyopathy | Enrichment | BRAF | 0.61 |
| 242 | Colorectal cancer | Enrichment | BRAF | 0.57 |
| 243 | Inherited cancer-predisposing syndrome | Enrichment | SMARCA4 | 0.43 |
| 244 | Hereditary retinal dystrophy | Enrichment | CDKL5 | 0.19 |
| 245 | Fundus dystrophy | Enrichment | CDKL5 | 0.19 |