| 1 | Self-limited infantile epilepsy | Enrichment | KCNQ2, KCNQ3, SCN2A, SCN8A | 9.89 |
| 2 | Developmental and epileptic encephalopathy | Enrichment | KCNQ2, SCN1A, SCN2A, SCN3A, SCN8A, SPTAN1 | 9.82 |
| 3 | Benign epilepsy with centrotemporal spikes | Enrichment | KCNQ3, SCN1A, SCN1B, SCN2A, SCN9A, SPTAN1 | 9.46 |
| 4 | Centralopathic epilepsy | Enrichment | KCNQ3, SCN1A, SCN1B, SCN2A, SCN9A, SPTAN1 | 9.31 |
| 5 | Familial atrial fibrillation | Enrichment | SCN1B, SCN2B, SCN3B, SCN4B, SCN5A | 8.73 |
| 6 | Brugada syndrome | Enrichment | SCN10A, SCN1B, SCN2B, SCN3B, SCN5A | 8.55 |
| 7 | Dravet syndrome | Enrichment | SCN1A, SCN1B, SCN2A, SCN9A | 8.33 |
| 8 | Hereditary sodium channelopathy-related small fibers neuropathy | Enrichment | SCN10A, SCN11A, SCN9A | 7.97 |
| 9 | Generalized epilepsy with febrile seizures plus | Enrichment | SCN1A, SCN1B, SCN2A, SCN9A | 7.66 |
| 10 | Erythermalgia, primary | Enrichment | SCN10A, SCN11A, SCN9A | 7.36 |
| 11 | West syndrome | Enrichment | KCNQ2, SCN1A, SCN2A, SCN8A, SPTAN1 | 7.34 |
| 12 | Paroxysmal extreme pain disorder | Enrichment | SCN10A, SCN11A, SCN9A | 6.97 |
| 13 | Hereditary spherocytosis | Enrichment | ANK1, SPTA1, SPTB | 6.67 |
| 14 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | SCN10A, SCN11A, SCN9A | 6.42 |
| 15 | Focal epilepsy | Enrichment | SCN2A, SCN8A, SPTAN1 | 6.42 |
| 16 | Long qt syndrome 1 | Enrichment | ANK2, SCN10A, SCN4B, SCN5A | 6.23 |
| 17 | Developmental and epileptic encephalopathy 14 | Enrichment | KCNQ2, SCN1A, SCN2A | 6.05 |
| 18 | Epilepsy | Enrichment | SCN1A, SCN2A, SCN3A, SCN8A | 5.72 |
| 19 | Seizures, benign familial neonatal, 2 | Enrichment | KCNQ2, KCNQ3 | 5.30 |
| 20 | Pyropoikilocytosis, hereditary | Enrichment | SPTA1, SPTB | 5.30 |
| 21 | Seizures, benign familial infantile, 3 | Enrichment | KCNQ2, SCN2A | 5.30 |
| 22 | Benign familial neonatal epilepsy | Enrichment | KCNQ3, SCN2A | 5.30 |
| 23 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 5.30 |
| 24 | Seizures, benign familial infantile, 5 | Enrichment | KCNQ3, SCN8A | 5.30 |
| 25 | Self-limited neonatal epilepsy | Enrichment | KCNQ2, KCNQ3 | 5.30 |
| 26 | Benign neonatal seizures | Enrichment | KCNQ3, SCN2A | 5.30 |
| 27 | Undetermined early-onset epileptic encephalopathy | Enrichment | SCN1A, SCN1B, SCN3A, SCN8A | 5.12 |
| 28 | Complex neurodevelopmental disorder | Enrichment | ANK2, NRCAM, SCN2A, SCN8A, SPTBN1 | 5.08 |
| 29 | Generalized epilepsy with febrile seizures plus, type 1 | Enrichment | SCN1A, SCN1B | 4.82 |
| 30 | Developmental and epileptic encephalopathy 1 | Enrichment | KCNQ2, SCN1A, SCN8A | 4.62 |
| 31 | Hereditary elliptocytosis | Enrichment | SPTA1, SPTB | 4.52 |
| 32 | Hereditary progressive cardiac conduction defect | Enrichment | SCN1B, SCN5A | 4.52 |
| 33 | Fetal akinesia deformation sequence 1 | Enrichment | SCN4A, SCN5A, SCN8A | 4.10 |
| 34 | Brugada syndrome 1 | Enrichment | SCN10A, SCN5A | 3.98 |
| 35 | Hemolytic anemia | Enrichment | SPTA1, SPTB | 3.98 |
| 36 | Distal arthrogryposis | Enrichment | SCN4A, SCN5A, SCN8A | 3.93 |
| 37 | Cardiac conduction defect | Enrichment | SCN1B, SCN5A | 3.48 |
| 38 | Protein-deficiency anemia | Enrichment | SPTA1, SPTB | 3.41 |
| 39 | Autism | Enrichment | SCN1A, SCN2A, SCN8A | 3.24 |
| 40 | Sudden infant death syndrome | Enrichment | SCN1A, SCN5A | 3.17 |
| 41 | Early infantile developmental and epileptic encephalopathy | Enrichment | SCN1B, SCN2A | 3.12 |
| 42 | Long qt syndrome | Enrichment | ANK2, SCN5A | 2.65 |
| 43 | Elliptocytosis 2 | Enrichment | SPTA1 | 2.64 |
| 44 | Hydrocephalus due to congenital stenosis of aqueduct of sylvius | Enrichment | L1CAM | 2.64 |
| 45 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.64 |
| 46 | Cardiac arrhythmia, ankyrin-b-related | Enrichment | ANK2 | 2.64 |
| 47 | Spinocerebellar ataxia 5 | Enrichment | SPTBN2 | 2.64 |
| 48 | Brugada syndrome 5 | Enrichment | SCN1B | 2.64 |
| 49 | Long qt syndrome 10 | Enrichment | SCN4B | 2.64 |
| 50 | Developmental and epileptic encephalopathy 5 | Enrichment | SPTAN1 | 2.64 |
| 51 | Intellectual developmental disorder, autosomal recessive 37 | Enrichment | ANK3 | 2.64 |
| 52 | Episodic pain syndrome, familial, 3 | Enrichment | SCN11A | 2.64 |
| 53 | Developmental and epileptic encephalopathy 7 | Enrichment | KCNQ2 | 2.64 |
| 54 | Developmental and epileptic encephalopathy 11 | Enrichment | SCN2A | 2.64 |
| 55 | Neuropathy, hereditary sensory and autonomic, type vii | Enrichment | SCN11A | 2.64 |
| 56 | Atrial fibrillation, familial, 14 | Enrichment | SCN2B | 2.64 |
| 57 | Corpus callosum, partial agenesis of, x-linked | Enrichment | L1CAM | 2.64 |
| 58 | Hydrocephalus, congenital, x-linked | Enrichment | L1CAM | 2.64 |
| 59 | Spherocytosis, type 3 | Enrichment | SPTA1 | 2.64 |
| 60 | Myoclonus, familial, 2 | Enrichment | SCN8A | 2.64 |
| 61 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.64 |
| 62 | Developmental and epileptic encephalopathy 62 | Enrichment | SCN3A | 2.64 |
| 63 | Long qt syndrome 4 | Enrichment | ANK2 | 2.64 |
| 64 | Masa syndrome | Enrichment | L1CAM | 2.64 |
| 65 | Atrial fibrillation, familial, 13 | Enrichment | SCN1B | 2.64 |
| 66 | Spinocerebellar ataxia, autosomal recessive 14 | Enrichment | SPTBN2 | 2.64 |
| 67 | Developmental delay, impaired speech, and behavioral abnormalities | Enrichment | SPTBN1 | 2.64 |
| 68 | Becker nevus syndrome | Enrichment | ACTB | 2.64 |
| 69 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.64 |
| 70 | Hyperpigmentation, familial progressive, 1 | Enrichment | SPTA1 | 2.64 |
| 71 | Episodic ataxia, type 9 | Enrichment | SCN2A | 2.64 |
| 72 | Episodic pain syndrome, familial, 2 | Enrichment | SCN10A | 2.64 |
| 73 | Benign familial infantile epilepsy | Enrichment | SCN2A | 2.64 |
| 74 | Brugada syndrome 7 | Enrichment | SCN3B | 2.64 |
| 75 | Epilepsy, familial focal, with variable foci 4 | Enrichment | SCN3A | 2.64 |
| 76 | 8p11.2 deletion syndrome | Enrichment | ANK1 | 2.64 |
| 77 | Spherocytosis, type 2 | Enrichment | SPTB | 2.64 |
| 78 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.64 |
| 79 | Elliptocytosis 3 | Enrichment | SPTB | 2.64 |
| 80 | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | Enrichment | NRCAM | 2.64 |
| 81 | Muscular channelopathy | Enrichment | SCN4A | 2.64 |
| 82 | Neurodevelopmental disorder with central and peripheral motor dysfunction | Enrichment | NFASC | 2.64 |
| 83 | Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | Enrichment | SPTAN1 | 2.64 |
| 84 | Developmental delay with or without epilepsy | Enrichment | SPTAN1 | 2.64 |
| 85 | Baraitser-winter syndrome | Enrichment | ACTB | 2.64 |
| 86 | Kcnq3-related disorders | Enrichment | KCNQ3 | 2.64 |
| 87 | Neuronopathy, distal hereditary motor, autosomal dominant 11 | Enrichment | SPTAN1 | 2.64 |
| 88 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.64 |
| 89 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.64 |
| 90 | X-linked complicated spastic paraplegia type 1 | Enrichment | L1CAM | 2.64 |
| 91 | Kcnq2-related disorders | Enrichment | KCNQ2 | 2.64 |
| 92 | Microcephaly | Enrichment | ACTB, ACTG1, SCN1A | 2.57 |
| 93 | Seizures, benign familial neonatal, 1 | Enrichment | KCNQ2 | 2.34 |
| 94 | Atrial standstill 1 | Enrichment | SCN5A | 2.34 |
| 95 | Progressive familial heart block, type ia | Enrichment | SCN5A | 2.34 |
| 96 | Paramyotonia congenita | Enrichment | SCN4A | 2.34 |
| 97 | Batten-turner congenital myopathy | Enrichment | SCN4A | 2.34 |
| 98 | Intellectual developmental disorder, x-linked, syndromic, raymond type | Enrichment | SPTAN1 | 2.34 |
| 99 | Indifference to pain, congenital, autosomal recessive | Enrichment | SCN9A | 2.34 |
| 100 | Sick sinus syndrome 1 | Enrichment | SCN5A | 2.34 |
| 101 | Myotonia, potassium-aggravated | Enrichment | SCN4A | 2.34 |
| 102 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.34 |
| 103 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.34 |
| 104 | Chudley-mccullough syndrome | Enrichment | SPTB | 2.34 |
| 105 | Atrial fibrillation, familial, 10 | Enrichment | SCN5A | 2.34 |
| 106 | Migraine, familial hemiplegic, 3 | Enrichment | SCN1A | 2.34 |
| 107 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | Enrichment | SPTBN4 | 2.34 |
| 108 | Cognitive impairment with or without cerebellar ataxia | Enrichment | SCN8A | 2.34 |
| 109 | Long qt syndrome 3 | Enrichment | SCN5A | 2.34 |
| 110 | Developmental and epileptic encephalopathy 6b | Enrichment | SCN1A | 2.34 |
| 111 | Sinoatrial node disease | Enrichment | SCN5A | 2.34 |
| 112 | Congenital myopathy 22a, classic | Enrichment | SCN4A | 2.34 |
| 113 | Congenital myopathy 22b, severe fetal | Enrichment | SCN4A | 2.34 |
| 114 | Myasthenic syndrome, congenital, 16 | Enrichment | SCN4A | 2.34 |
| 115 | Developmental and epileptic encephalopathy 30 | Enrichment | SCN2A | 2.34 |
| 116 | Congenital hemolytic anemia | Enrichment | SPTA1 | 2.34 |
| 117 | Ichthyosis, congenital, autosomal recessive 10 | Enrichment | KCNQ2 | 2.34 |
| 118 | Hypokalemic periodic paralysis, type 2 | Enrichment | SCN4A | 2.34 |
| 119 | Scn1a seizure disorders | Enrichment | SCN1A | 2.34 |
| 120 | Malignant migrating partial seizures of infancy | Enrichment | SCN2A | 2.34 |
| 121 | Developmental and epileptic encephalopathy 76 | Enrichment | SCN1A | 2.34 |
| 122 | Small fiber neuropathy | Enrichment | SCN9A | 2.34 |
| 123 | Isolated atrial standstill | Enrichment | SCN5A | 2.34 |
| 124 | Autosomal dominant non-syndromic intellectual disability | Enrichment | KCNQ2, SCN8A | 2.24 |
| 125 | Spastic ataxia | Enrichment | SCN2A, SPTAN1 | 2.19 |
| 126 | Dystonia 12 | Enrichment | SCN2A | 2.16 |
| 127 | Generalized epilepsy with febrile seizures plus, type 2 | Enrichment | SCN1A | 2.16 |
| 128 | Developmental and epileptic encephalopathy 13 | Enrichment | SCN8A | 2.16 |
| 129 | Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy | Enrichment | SPTBN1 | 2.16 |
| 130 | Generalized epilepsy with febrile seizures plus, type 7 | Enrichment | SCN9A | 2.16 |
| 131 | Short-rib thoracic dysplasia 11 with or without polydactyly | Enrichment | SPTAN1 | 2.16 |
| 132 | Tremor, hereditary essential, 6 | Enrichment | SCN4A | 2.16 |
| 133 | Hereditary episodic ataxia | Enrichment | SCN2A | 2.16 |
| 134 | Neuropathy, hereditary sensory and autonomic, type iia | Enrichment | SCN9A | 2.04 |
| 135 | Ventricular fibrillation, paroxysmal familial, 1 | Enrichment | SCN5A | 2.04 |
| 136 | Long qt syndrome 2 | Enrichment | SCN5A | 2.04 |
| 137 | Hyperkalemic periodic paralysis | Enrichment | SCN4A | 2.04 |
| 138 | Aminoacylase 1 deficiency | Enrichment | ACTB | 2.04 |
| 139 | Developmental and epileptic encephalopathy 12 | Enrichment | SCN2A | 2.04 |
| 140 | Hereditary sensory and autonomic neuropathy type 2 | Enrichment | SCN9A | 2.04 |
| 141 | Developmental and epileptic encephalopathy 52 | Enrichment | SCN1B | 2.04 |
| 142 | Atrial fibrillation | Enrichment | SCN5A | 2.04 |
| 143 | Sotos syndrome 1 | Enrichment | SCN4A | 2.04 |
| 144 | Episodic ataxia | Enrichment | SCN2A | 2.04 |
| 145 | Charcot-marie-tooth hereditary neuropathy | Enrichment | SPTAN1 | 2.04 |
| 146 | Familial or sporadic hemiplegic migraine | Enrichment | SCN1A | 2.04 |
| 147 | Sick sinus syndrome | Enrichment | SCN5A | 2.04 |
| 148 | Paroxysmal familial ventricular fibrillation | Enrichment | SCN5A | 2.04 |
| 149 | Familial sick sinus syndrome | Enrichment | SCN5A | 2.04 |
| 150 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 2.04 |
| 151 | Sotos syndrome | Enrichment | SCN4A | 1.94 |
| 152 | Spherocytosis, type 1 | Enrichment | ANK1 | 1.94 |
| 153 | Convulsions, familial infantile, with paroxysmal choreoathetosis | Enrichment | SCN8A | 1.94 |
| 154 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | L1CAM | 1.94 |
| 155 | Heart conduction disease | Enrichment | SCN5A | 1.94 |
| 156 | Pervasive developmental disorder | Enrichment | SPTBN1 | 1.94 |
| 157 | Cardiac arrest | Enrichment | SCN5A | 1.94 |
| 158 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.94 |
| 159 | Sensory peripheral neuropathy | Enrichment | SCN11A | 1.94 |
| 160 | Rare pervasive developmental disorder | Enrichment | SPTBN1 | 1.94 |
| 161 | Hypokalemic periodic paralysis, type 1 | Enrichment | SCN4A | 1.87 |
| 162 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | ANK2 | 1.87 |
| 163 | Pain disorder | Enrichment | SCN4A | 1.87 |
| 164 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | SCN3A | 1.80 |
| 165 | Lennox-gastaut syndrome | Enrichment | SCN1A | 1.74 |
| 166 | Alternating hemiplegia of childhood | Enrichment | SCN2A | 1.74 |
| 167 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | ANK2 | 1.74 |
| 168 | Myoclonic-atonic epilepsy | Enrichment | SCN1A | 1.69 |
| 169 | Bilateral perisylvian polymicrogyria | Enrichment | SCN3A | 1.69 |
| 170 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | SCN5A | 1.69 |
| 171 | Hydrops fetalis | Enrichment | L1CAM | 1.69 |
| 172 | Cat eye syndrome | Enrichment | ACTG1 | 1.65 |
| 173 | Polymicrogyria | Enrichment | SCN3A | 1.65 |
| 174 | Epilepsy, myoclonic juvenile | Enrichment | KCNQ3 | 1.60 |
| 175 | Movement disease | Enrichment | SCN2A | 1.60 |
| 176 | Autism spectrum disorder | Enrichment | ANK2, SCN2A | 1.59 |
| 177 | Epicanthus | Enrichment | KCNQ2 | 1.57 |
| 178 | Congenital long qt syndrome | Enrichment | SCN5A | 1.57 |
| 179 | Postsynaptic congenital myasthenic syndromes | Enrichment | SCN4A | 1.57 |
| 180 | Medulloblastoma | Enrichment | ANK3 | 1.50 |
| 181 | Wolff-parkinson-white syndrome | Enrichment | SCN5A | 1.44 |
| 182 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | SCN5A | 1.44 |
| 183 | Cardiomyopathy, dilated, 1e | Enrichment | SCN5A | 1.42 |
| 184 | Neuromuscular disease | Enrichment | SPTAN1 | 1.39 |
| 185 | Congenital myopathy | Enrichment | SCN4A | 1.37 |
| 186 | Lissencephaly | Enrichment | ACTG1 | 1.33 |
| 187 | Malaria | Enrichment | SCN8A | 1.29 |
| 188 | Jeune thoracic dystrophy | Enrichment | SPTAN1 | 1.25 |
| 189 | Asphyxiating thoracic dystrophy | Enrichment | SPTAN1 | 1.21 |
| 190 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | SPTAN1 | 1.14 |
| 191 | Cakut | Enrichment | ACTG1 | 1.13 |
| 192 | Left ventricular noncompaction | Enrichment | SCN5A | 1.11 |
| 193 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 1.10 |
| 194 | Myopathy | Enrichment | SCN4A | 1.06 |
| 195 | Hereditary spastic paraplegia | Enrichment | SPTAN1 | 1.04 |
| 196 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 1.04 |
| 197 | Body mass index quantitative trait locus 11 | Enrichment | SCN1A | 0.97 |
| 198 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.95 |
| 199 | Familial isolated dilated cardiomyopathy | Enrichment | SCN5A | 0.94 |
| 200 | Rare genetic deafness | Enrichment | ACTG1 | 0.78 |
| 201 | Dilated cardiomyopathy | Enrichment | SCN5A | 0.78 |
| 202 | Congenital nervous system abnormality | Enrichment | ANK3 | 0.67 |
| 203 | Nervous system disease | Enrichment | ANK3 | 0.67 |