| 1 | Achromatopsia 3 | Enrichment | CNGA3, CNGB3 | 4.99 |
| 2 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A, CAMK2B, GRIN1, GRIN2B | 4.70 |
| 3 | Achromatopsia | Enrichment | CNGA3, CNGB3 | 3.34 |
| 4 | Cone-rod dystrophy 2 | Enrichment | CNGA1, CNGA3, CNGB3 | 2.86 |
| 5 | Hypertension and brachydactyly syndrome | Enrichment | PDE3A | 2.49 |
| 6 | Pyloric stenosis, infantile hypertrophic, 1 | Enrichment | NOS1 | 2.49 |
| 7 | Achromatopsia 2 | Enrichment | CNGA3 | 2.49 |
| 8 | Epilepsy, focal, with speech disorder and with or without impaired intellectual development | Enrichment | GRIN2A | 2.49 |
| 9 | Lymphoproliferative syndrome, x-linked, 2 | Enrichment | XIAP | 2.49 |
| 10 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | Enrichment | ACTN2 | 2.49 |
| 11 | Charcot-marie-tooth disease, demyelinating, type 1f | Enrichment | NEFL | 2.49 |
| 12 | Developmental and epileptic encephalopathy 27 | Enrichment | GRIN2B | 2.49 |
| 13 | Spondylometaphyseal dysplasia, pagnamenta type | Enrichment | PRKG2 | 2.49 |
| 14 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.49 |
| 15 | Intellectual developmental disorder, autosomal dominant 54 | Enrichment | CAMK2B | 2.49 |
| 16 | Congenital myopathy 8 | Enrichment | ACTN2 | 2.49 |
| 17 | Charcot-marie-tooth disease, dominant intermediate g | Enrichment | NEFL | 2.49 |
| 18 | Intellectual developmental disorder with paroxysmal dyskinesia or seizures | Enrichment | PDE2A | 2.49 |
| 19 | Long qt syndrome 11 | Enrichment | AKAP9 | 2.49 |
| 20 | Thrombocytopenia 4 | Enrichment | CYCS | 2.49 |
| 21 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | Enrichment | GRIN1 | 2.49 |
| 22 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | Enrichment | GRIN2B | 2.49 |
| 23 | Charcot-marie-tooth disease type 1f | Enrichment | NEFL | 2.49 |
| 24 | Moyamoya disease 6 with or without achalasia | Enrichment | GUCY1A1 | 2.49 |
| 25 | Developmental and epileptic encephalopathy 101 | Enrichment | GRIN1 | 2.49 |
| 26 | Retinitis pigmentosa 45 | Enrichment | CNGB1 | 2.49 |
| 27 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | Enrichment | GRIN1 | 2.49 |
| 28 | Myopathy, distal, 6, adult-onset, autosomal dominant | Enrichment | ACTN2 | 2.49 |
| 29 | Moyamoya disease with early-onset achalasia | Enrichment | GUCY1A1 | 2.49 |
| 30 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.49 |
| 31 | Intellectual developmental disorder, autosomal dominant 59 | Enrichment | CAMK2G | 2.49 |
| 32 | Charcot-marie-tooth disease type 2b5 | Enrichment | NEFL | 2.49 |
| 33 | Grin2b-related neurodevelopmental disorder | Enrichment | GRIN2B | 2.49 |
| 34 | Landau-kleffner syndrome | Enrichment | GRIN2A | 2.49 |
| 35 | Intellectual disability, autosomal dominant 8 | Enrichment | GRIN1 | 2.49 |
| 36 | Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation | Enrichment | GRIN2A | 2.49 |
| 37 | Grin2a-related disorders | Enrichment | GRIN2A | 2.49 |
| 38 | Long qt syndrome 1 | Enrichment | AKAP9, CALM1 | 2.37 |
| 39 | Long qt syndrome | Enrichment | AKAP9, CALM1 | 2.35 |
| 40 | Eye disease | Enrichment | CNGA3, CNGB3 | 2.24 |
| 41 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.19 |
| 42 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.19 |
| 43 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.19 |
| 44 | Atrial fibrillation, familial, 6 | Enrichment | NPPA | 2.19 |
| 45 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.19 |
| 46 | Long qt syndrome 14 | Enrichment | CALM1 | 2.19 |
| 47 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.19 |
| 48 | Retinitis pigmentosa 49 | Enrichment | CNGA1 | 2.19 |
| 49 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.19 |
| 50 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.19 |
| 51 | Bilateral generalized polymicrogyria | Enrichment | GRIN1 | 2.19 |
| 52 | Intellectual developmental disorder, autosomal dominant 21 | Enrichment | GRIN2A | 2.19 |
| 53 | Acromesomelic dysplasia 4 | Enrichment | PRKG2 | 2.19 |
| 54 | Developmental and epileptic encephalopathy 46 | Enrichment | GRIN2D | 2.19 |
| 55 | Vulto-van silfhout-de vries syndrome | Enrichment | DLG4 | 2.19 |
| 56 | Ectodermal dysplasia and immune deficiency | Enrichment | NFKBIA | 2.19 |
| 57 | Rolandic epilepsy-speech dyspraxia syndrome | Enrichment | GRIN2A | 2.19 |
| 58 | Isolated atrial standstill | Enrichment | NPPA | 2.19 |
| 59 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.19 |
| 60 | Epilepsy-aphasia spectrum | Enrichment | GRIN2A | 2.19 |
| 61 | Epilepsy | Enrichment | GRIN2A, GRIN2B | 2.13 |
| 62 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN1, GRIN2A | 2.11 |
| 63 | Centralopathic epilepsy | Enrichment | GRIN1, GRIN2A | 2.07 |
| 64 | Optic atrophy plus syndrome | Enrichment | CNGA3, CNGB3 | 2.05 |
| 65 | West syndrome | Enrichment | GRIN1, GRIN2B | 2.05 |
| 66 | Anosmia, isolated congenital | Enrichment | CNGA2 | 2.01 |
| 67 | Heart defects, congenital, and other congenital anomalies | Enrichment | DLG4 | 2.01 |
| 68 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 2.01 |
| 69 | Atrial standstill 2 | Enrichment | NPPA | 2.01 |
| 70 | Auditory neuropathy and optic atrophy | Enrichment | GRIN2C | 2.01 |
| 71 | Intellectual developmental disorder, autosomal dominant 62 | Enrichment | DLG4 | 2.01 |
| 72 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 2.01 |
| 73 | Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures | Enrichment | DLG4 | 2.01 |
| 74 | Intrinsic cardiomyopathy | Enrichment | ACTN2 | 2.01 |
| 75 | Dlg4-related synaptopathy | Enrichment | DLG4 | 2.01 |
| 76 | Melanoma of soft tissue | Enrichment | CREB1 | 2.01 |
| 77 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DLG4 | 1.89 |
| 78 | Astigmatism | Enrichment | GRIN2B | 1.89 |
| 79 | Lymphoproliferative syndrome 2 | Enrichment | XIAP | 1.89 |
| 80 | Color blindness | Enrichment | CNGA3 | 1.89 |
| 81 | Idiopathic achalasia | Enrichment | NOS1 | 1.89 |
| 82 | Hereditary retinal dystrophy | Enrichment | CNGA1, CNGA3, CNGB1, CNGB3 | 1.85 |
| 83 | Fundus dystrophy | Enrichment | CNGA1, CNGA3, CNGB1, CNGB3 | 1.85 |
| 84 | Alzheimer disease 2 | Enrichment | NOS3 | 1.79 |
| 85 | Convulsions, familial infantile, with paroxysmal choreoathetosis | Enrichment | PDE2A | 1.79 |
| 86 | Charcot-marie-tooth disease, axonal, type 2e | Enrichment | NEFL | 1.79 |
| 87 | Pre-eclampsia | Enrichment | NOS3 | 1.79 |
| 88 | Follicular lymphoma | Enrichment | BCL2 | 1.79 |
| 89 | Macular degeneration | Enrichment | CNGA3 | 1.79 |
| 90 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 1.79 |
| 91 | Sleep disorder | Enrichment | GRIN2B | 1.79 |
| 92 | Moyamoya disease 1 | Enrichment | GUCY1A1 | 1.71 |
| 93 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.71 |
| 94 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.65 |
| 95 | Paroxysmal dystonia | Enrichment | PDE2A | 1.65 |
| 96 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.59 |
| 97 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1 | 1.59 |
| 98 | Choreatic disease | Enrichment | PDE2A | 1.59 |
| 99 | Retinitis pigmentosa | Enrichment | CNGA1, CNGB1, CNGB3 | 1.51 |
| 100 | Stroke, ischemic | Enrichment | NOS3 | 1.50 |
| 101 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.50 |
| 102 | Cone-rod dystrophy 6 | Enrichment | CNGB3 | 1.35 |
| 103 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | ACTN2 | 1.30 |
| 104 | Gliosarcoma | Enrichment | NFKBIA | 1.30 |
| 105 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 1.27 |
| 106 | Hypertension, essential | Enrichment | NOS3 | 1.27 |
| 107 | Giant cell glioblastoma | Enrichment | NFKBIA | 1.27 |
| 108 | Early infantile developmental and epileptic encephalopathy | Enrichment | GRIN1 | 1.25 |
| 109 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | NEFL | 1.22 |
| 110 | Microcephaly | Enrichment | CAMK2B, GRIN2B | 1.22 |
| 111 | Complex neurodevelopmental disorder | Enrichment | DLG4, GRIN2B | 1.21 |
| 112 | Craniosynostosis | Enrichment | GRIN2B | 1.20 |
| 113 | Myocardial infarction | Enrichment | GUCY1A1 | 1.16 |
| 114 | Malaria | Enrichment | NOS2 | 1.14 |
| 115 | Familial atrial fibrillation | Enrichment | NPPA | 1.12 |
| 116 | Cone dystrophy | Enrichment | CNGA3 | 1.12 |
| 117 | Autoinflammatory disease | Enrichment | XIAP | 1.12 |
| 118 | Scoliosis | Enrichment | GRIN2B | 1.12 |
| 119 | Developmental and epileptic encephalopathy 1 | Enrichment | GRIN1 | 1.11 |
| 120 | Brugada syndrome | Enrichment | AKAP9 | 1.09 |
| 121 | Auditory neuropathy | Enrichment | NEFL | 1.09 |
| 122 | Stargardt disease 1 | Enrichment | CNGB3 | 1.03 |
| 123 | Peripheral nervous system disease | Enrichment | NEFL | 1.01 |
| 124 | Neuropathy | Enrichment | NEFL | 1.01 |
| 125 | Familial hypertrophic cardiomyopathy | Enrichment | ACTN2 | 0.99 |
| 126 | Left ventricular noncompaction | Enrichment | ACTN2 | 0.97 |
| 127 | Dystonia | Enrichment | CAMK2B | 0.97 |
| 128 | Cerebral palsy | Enrichment | GRIN2B | 0.92 |
| 129 | Charcot-marie-tooth disease | Enrichment | NEFL | 0.90 |
| 130 | Hypertrophic cardiomyopathy | Enrichment | ACTN2 | 0.88 |
| 131 | Sensorineural hearing loss | Enrichment | NEFL | 0.84 |
| 132 | Thrombocytopenia | Enrichment | CYCS | 0.84 |
| 133 | Familial isolated dilated cardiomyopathy | Enrichment | ACTN2 | 0.80 |
| 134 | Undetermined early-onset epileptic encephalopathy | Enrichment | GRIN2D | 0.78 |
| 135 | Autosomal recessive non-syndromic intellectual disability | Enrichment | GRIN1 | 0.76 |
| 136 | Primary ovarian insufficiency | Enrichment | NOS3 | 0.76 |
| 137 | Autism | Enrichment | CAMK2G | 0.68 |
| 138 | Dilated cardiomyopathy | Enrichment | ACTN2 | 0.64 |
| 139 | Leber plus disease | Enrichment | CNGB3 | 0.57 |
| 140 | Congenital nervous system abnormality | Enrichment | CAMK2B | 0.53 |
| 141 | Nervous system disease | Enrichment | CAMK2B | 0.53 |
| 142 | Autism spectrum disorder | Enrichment | GRIN2B | 0.52 |