| 1 | Undetermined early-onset epileptic encephalopathy | Enrichment | ATP1A2, CACNA1A, CACNA1B, CLTC, DNM1 | 5.69 |
| 2 | Alternating hemiplegia of childhood | Enrichment | ATP1A2, CACNA1A, SLC1A3 | 5.56 |
| 3 | Alternating hemiplegia of childhood 1 | Enrichment | ATP1A2, CACNA1A | 4.86 |
| 4 | Developmental and epileptic encephalopathy 2 | Enrichment | CACNA1A, SNAP25 | 4.08 |
| 5 | Familial or sporadic hemiplegic migraine | Enrichment | ATP1A2, CACNA1A | 4.08 |
| 6 | Lennox-gastaut syndrome | Enrichment | CACNA1A, DNM1 | 3.42 |
| 7 | Presynaptic congenital myasthenic syndromes | Enrichment | SLC18A3, SNAP25 | 3.13 |
| 8 | Stereotypic movement disorder | Enrichment | DNM1, SNAP25 | 2.98 |
| 9 | Generalized epilepsy with febrile seizures plus | Enrichment | SLC32A1, STX1B | 2.91 |
| 10 | Autism | Enrichment | STX1A, STXBP1, UNC13A | 2.60 |
| 11 | Hypocalciuric hypercalcemia, familial, type iii | Enrichment | AP2S1 | 2.42 |
| 12 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 | Enrichment | SLC25A4 | 2.42 |
| 13 | Episodic ataxia, type 6 | Enrichment | SLC1A3 | 2.42 |
| 14 | Optic atrophy 5 | Enrichment | DNM1L | 2.42 |
| 15 | Charcot-marie-tooth disease, dominant intermediate b | Enrichment | DNM2 | 2.42 |
| 16 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | Enrichment | DNM1L | 2.42 |
| 17 | Diarrhea 12, with microvillus atrophy | Enrichment | STX3 | 2.42 |
| 18 | Mitochondrial dna depletion syndrome 12b , autosomal recessive | Enrichment | SLC25A4 | 2.42 |
| 19 | Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | Enrichment | ATP1A2 | 2.42 |
| 20 | Intellectual developmental disorder, x-linked 50 | Enrichment | SYN1 | 2.42 |
| 21 | Developmental and epileptic encephalopathy 117 | Enrichment | SNAP25 | 2.42 |
| 22 | Developmental and epileptic encephalopathy 63 | Enrichment | CPLX1 | 2.42 |
| 23 | Baker-gordon syndrome | Enrichment | SYT1 | 2.42 |
| 24 | Ceroid lipofuscinosis, neuronal, 8 | Enrichment | CLN8 | 2.42 |
| 25 | Epilepsy, x-linked 1, with variable learning disabilities and behavior disorders | Enrichment | SYN1 | 2.42 |
| 26 | Mitochondrial dna depletion syndrome 12a , autosomal dominant | Enrichment | SLC25A4 | 2.42 |
| 27 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | Enrichment | CLN8 | 2.42 |
| 28 | Cone-rod dystrophy 7 | Enrichment | RIMS1 | 2.42 |
| 29 | Deafness, autosomal dominant 25 | Enrichment | SLC17A8 | 2.42 |
| 30 | X-linked epilepsy with variable learning disabilities and behavior disorders | Enrichment | SYN1 | 2.42 |
| 31 | Parkinson disease 7, autosomal recessive early-onset | Enrichment | PARK7 | 2.42 |
| 32 | Lethal congenital contracture syndrome 5 | Enrichment | DNM2 | 2.42 |
| 33 | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | Enrichment | VAMP2 | 2.42 |
| 34 | Epilepsy with generalized tonic-clonic seizures | Enrichment | SNAP25 | 2.42 |
| 35 | Generalized epilepsy with febrile seizures plus, type 12 | Enrichment | SLC32A1 | 2.42 |
| 36 | Mitochondrial metabolism disease | Enrichment | SLC25A4 | 2.42 |
| 37 | Developmental and epileptic encephalopathy 98 | Enrichment | ATP1A2 | 2.42 |
| 38 | Retinal dystrophy and microvillus inclusion disease | Enrichment | STX3 | 2.42 |
| 39 | Generalized epilepsy with febrile seizures plus, type 9 | Enrichment | STX1B | 2.42 |
| 40 | Congenital insensitivity to pain with severe intellectual disability | Enrichment | CLTCL1 | 2.42 |
| 41 | Autosomal dominant charcot-marie-tooth disease type 2m | Enrichment | DNM2 | 2.42 |
| 42 | Developmental and epileptic encephalopathy 114 | Enrichment | SLC32A1 | 2.42 |
| 43 | Sporadic hemiplegic migraine | Enrichment | CACNA1A | 2.42 |
| 44 | Late infantile cln8 disease | Enrichment | CLN8 | 2.42 |
| 45 | Encephalopathy due to mitochondrial and peroxisomal fission defect | Enrichment | DNM1L | 2.42 |
| 46 | Benign paroxysmal torticollis of infancy | Enrichment | CACNA1A | 2.42 |
| 47 | Auditory neuropathy | Enrichment | CACNA1A, SLC17A8 | 2.37 |
| 48 | Strabismus | Enrichment | CACNA1A, STXBP1 | 2.34 |
| 49 | Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 | Enrichment | PARK7 | 2.12 |
| 50 | Sorsby fundus dystrophy | Enrichment | SYN3 | 2.12 |
| 51 | Migraine, familial hemiplegic, 2 | Enrichment | ATP1A2 | 2.12 |
| 52 | Obsessive-compulsive disorder | Enrichment | SLC6A4 | 2.12 |
| 53 | Myoclonic epilepsy, familial infantile | Enrichment | CPLX1 | 2.12 |
| 54 | Parkinsonism-dystonia 2, infantile-onset | Enrichment | SLC18A2 | 2.12 |
| 55 | Familial hemiplegic migraine | Enrichment | ATP1A2 | 2.12 |
| 56 | Developmental and epileptic encephalopathy 96 | Enrichment | NSF | 2.12 |
| 57 | Intellectual developmental disorder, autosomal dominant 60, with seizures | Enrichment | AP2M1 | 2.12 |
| 58 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | Enrichment | CACNA1B | 2.12 |
| 59 | 9q33.3q34.11 microdeletion syndrome | Enrichment | STXBP1 | 2.12 |
| 60 | Myasthenic syndrome, congenital, 21, presynaptic | Enrichment | SLC18A3 | 2.12 |
| 61 | Progressive bulbar palsy | Enrichment | CACNA1A | 2.12 |
| 62 | Developmental and epileptic encephalopathy | Enrichment | SNAP25, STXBP1 | 2.09 |
| 63 | Epilepsy | Enrichment | ATP1A2, SYN1 | 2.01 |
| 64 | Sengers syndrome | Enrichment | SLC25A4 | 1.95 |
| 65 | Intellectual developmental disorder, x-linked 96 | Enrichment | SYP | 1.95 |
| 66 | Myopathy, centronuclear, x-linked | Enrichment | DNM2 | 1.95 |
| 67 | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | Enrichment | CACNA1A | 1.95 |
| 68 | Intellectual developmental disorder, autosomal dominant 56 | Enrichment | CLTC | 1.95 |
| 69 | Developmental and epileptic encephalopathy 31b | Enrichment | DNM1 | 1.95 |
| 70 | Gyrate atrophy of choroid and retina | Enrichment | RIMS1 | 1.95 |
| 71 | Microvillus inclusion disease | Enrichment | STX3 | 1.95 |
| 72 | Autosomal dominant optic atrophy, classic form | Enrichment | DNM1L | 1.95 |
| 73 | Hereditary episodic ataxia | Enrichment | CACNA1A | 1.95 |
| 74 | West syndrome | Enrichment | DNM1, STXBP1 | 1.93 |
| 75 | Migraine, familial hemiplegic, 1 | Enrichment | CACNA1A | 1.83 |
| 76 | Spinocerebellar ataxia 6 | Enrichment | CACNA1A | 1.83 |
| 77 | Developmental and epileptic encephalopathy 4 | Enrichment | STXBP1 | 1.83 |
| 78 | Developmental and epileptic encephalopathy 42 | Enrichment | CACNA1A | 1.83 |
| 79 | Developmental and epileptic encephalopathy 52 | Enrichment | CACNA1A | 1.83 |
| 80 | Generalized epilepsy | Enrichment | STX1B | 1.83 |
| 81 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | Enrichment | CLTC | 1.83 |
| 82 | Episodic ataxia | Enrichment | CACNA1A | 1.83 |
| 83 | Spastic ataxia | Enrichment | ATP1A2, STXBP1 | 1.77 |
| 84 | Episodic ataxia, type 2 | Enrichment | CACNA1A | 1.73 |
| 85 | Developmental and epileptic encephalopathy 31a | Enrichment | DNM1 | 1.73 |
| 86 | Myopathy, centronuclear, 1 | Enrichment | DNM2 | 1.65 |
| 87 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 | Enrichment | SLC25A4 | 1.65 |
| 88 | Wolf-hirschhorn syndrome | Enrichment | CPLX1 | 1.65 |
| 89 | Anxiety | Enrichment | SLC6A4 | 1.65 |
| 90 | Parkinson disease 6, autosomal recessive early-onset | Enrichment | PARK7 | 1.65 |
| 91 | Inflammatory myofibroblastic tumor | Enrichment | CLTC | 1.65 |
| 92 | Noonan syndrome 3 | Enrichment | CLTC | 1.58 |
| 93 | Renal cell carcinoma with mit translocations | Enrichment | CLTC | 1.58 |
| 94 | Focal epilepsy | Enrichment | SNAP25 | 1.58 |
| 95 | Difference of sex development | Enrichment | CACNA1A | 1.53 |
| 96 | Myoclonic-atonic epilepsy | Enrichment | AP2M1 | 1.48 |
| 97 | Amyotrophic lateral sclerosis 1 | Enrichment | UNC13A | 1.43 |
| 98 | Polymicrogyria | Enrichment | ATP1A2 | 1.43 |
| 99 | Migraine with or without aura 1 | Enrichment | CACNA1A | 1.39 |
| 100 | Mitochondrial myopathy | Enrichment | SLC25A4 | 1.39 |
| 101 | Mitochondrial disease | Enrichment | DNM1L, SLC25A4 | 1.37 |
| 102 | Early-onset parkinson's disease | Enrichment | PARK7 | 1.35 |
| 103 | Myopia | Enrichment | SLC25A4 | 1.26 |
| 104 | Neuronal ceroid lipofuscinosis | Enrichment | CLN8 | 1.26 |
| 105 | Syndromic intellectual disability | Enrichment | SYT1 | 1.21 |
| 106 | Autism spectrum disorder | Enrichment | RIMS1, STXBP1 | 1.20 |
| 107 | Early infantile developmental and epileptic encephalopathy | Enrichment | SLC32A1 | 1.18 |
| 108 | Arteriovenous malformations of the brain | Enrichment | SYN3 | 1.16 |
| 109 | Williams-beuren syndrome | Enrichment | STX1A | 1.14 |
| 110 | Centronuclear myopathy | Enrichment | DNM2 | 1.12 |
| 111 | Microcephaly | Enrichment | SNAP25, STXBP1 | 1.11 |
| 112 | Cystic fibrosis | Enrichment | STX1A | 0.94 |
| 113 | Non-syndromic x-linked intellectual disability | Enrichment | SYP | 0.90 |
| 114 | Fetal akinesia deformation sequence 1 | Enrichment | SLC18A3 | 0.89 |
| 115 | Cerebral palsy | Enrichment | CACNA1A | 0.86 |
| 116 | Myopathy | Enrichment | DNM2 | 0.85 |
| 117 | Charcot-marie-tooth disease | Enrichment | DNM2 | 0.84 |
| 118 | Hypertrophic cardiomyopathy | Enrichment | SLC25A4 | 0.82 |
| 119 | Optic atrophy plus syndrome | Enrichment | SNAP25 | 0.82 |
| 120 | Body mass index quantitative trait locus 11 | Enrichment | DNM1L | 0.76 |
| 121 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CLTC | 0.76 |
| 122 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | SLC17A8 | 0.75 |
| 123 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | UNC13A | 0.71 |
| 124 | Schizophrenia | Enrichment | SYN2 | 0.70 |
| 125 | Cone-rod dystrophy 2 | Enrichment | RIMS1 | 0.65 |
| 126 | Congenital nervous system abnormality | Enrichment | CACNA1A | 0.48 |
| 127 | Nervous system disease | Enrichment | CACNA1A | 0.48 |
| 128 | Hereditary retinal dystrophy | Enrichment | SYN3 | 0.17 |
| 129 | Fundus dystrophy | Enrichment | SYN3 | 0.17 |