| 1 | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | Enrichment | CACNA1A, CACNA1C | 4.42 |
| 2 | Undetermined early-onset epileptic encephalopathy | Enrichment | CACNA1A, CACNA1B, CACNA2D1, PPP3CA | 4.32 |
| 3 | Mirror movements 1 | Enrichment | DCC, NTN1 | 4.12 |
| 4 | Ventricular fibrillation, paroxysmal familial, 1 | Enrichment | CACNA1C, RYR2 | 4.12 |
| 5 | Malignant hyperthermia | Enrichment | CACNA1S, RYR1 | 4.12 |
| 6 | Brugada syndrome | Enrichment | CACNA1C, CACNA2D1, CACNB2 | 3.96 |
| 7 | Heart conduction disease | Enrichment | CACNA1C, RYR2 | 3.90 |
| 8 | Long qt syndrome | Enrichment | CACNA1C, CACNA1S, RYR2 | 3.73 |
| 9 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 3.34 |
| 10 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | CACNA1C, RAC1 | 3.34 |
| 11 | Hydrops fetalis | Enrichment | RYR1, RYR3 | 3.34 |
| 12 | Cardiac conduction defect | Enrichment | CACNA1C, RYR2 | 3.08 |
| 13 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | RYR1, RYR2 | 2.83 |
| 14 | Congenital myopathy | Enrichment | CACNA1S, RYR1 | 2.68 |
| 15 | Centronuclear myopathy | Enrichment | CACNA1S, RYR1 | 2.59 |
| 16 | Acrodysostosis 1 with or without hormone resistance | Enrichment | PRKAR1A | 2.44 |
| 17 | Thyrotoxic periodic paralysis 1 | Enrichment | CACNA1S | 2.44 |
| 18 | Epilepsy, idiopathic generalized 9 | Enrichment | CACNB4 | 2.44 |
| 19 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 2.44 |
| 20 | Carney complex, type 1 | Enrichment | PRKAR1A | 2.44 |
| 21 | Brugada syndrome 4 | Enrichment | CACNB2 | 2.44 |
| 22 | Aortic aneurysm, familial thoracic 8 | Enrichment | PRKG1 | 2.44 |
| 23 | Episodic ataxia, type 5 | Enrichment | CACNB4 | 2.44 |
| 24 | Congenital myopathy 20 | Enrichment | RYR3 | 2.44 |
| 25 | Congenital myopathy 18 | Enrichment | CACNA1S | 2.44 |
| 26 | Developmental and epileptic encephalopathy 91 | Enrichment | PPP3CA | 2.44 |
| 27 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 2.44 |
| 28 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | Enrichment | PPP3CA | 2.44 |
| 29 | Mirror movements 4 | Enrichment | NTN1 | 2.44 |
| 30 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 2.44 |
| 31 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.44 |
| 32 | Myxoma, intracardiac | Enrichment | PRKAR1A | 2.44 |
| 33 | Primary aldosteronism, seizures, and neurologic abnormalities | Enrichment | CACNA1D | 2.44 |
| 34 | Brugada syndrome 3 | Enrichment | CACNA1C | 2.44 |
| 35 | Malignant hyperthermia 5 | Enrichment | CACNA1S | 2.44 |
| 36 | Sinoatrial node dysfunction and deafness | Enrichment | CACNA1D | 2.44 |
| 37 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.44 |
| 38 | Developmental and epileptic encephalopathy 110 | Enrichment | CACNA2D1 | 2.44 |
| 39 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.44 |
| 40 | Developmental and epileptic encephalopathy 69 | Enrichment | CACNA1E | 2.44 |
| 41 | Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development | Enrichment | DCC | 2.44 |
| 42 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 2.44 |
| 43 | Congenital myopathy with myasthenic-like onset | Enrichment | RYR1 | 2.44 |
| 44 | Prkar1b-related neurodegenerative dementia with intermediate filaments | Enrichment | PRKAR1B | 2.44 |
| 45 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 2.44 |
| 46 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 2.44 |
| 47 | Sporadic hemiplegic migraine | Enrichment | CACNA1A | 2.44 |
| 48 | Atypical timothy syndrome | Enrichment | CACNA1C | 2.44 |
| 49 | Aldosterone-producing adenoma with seizures and neurological abnormalities | Enrichment | CACNA1D | 2.44 |
| 50 | Timothy syndrome type 2 | Enrichment | CACNA1C | 2.44 |
| 51 | Periodic paralysis with transient compartment-like syndrome | Enrichment | CACNA1S | 2.44 |
| 52 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.44 |
| 53 | Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy | Enrichment | RYR1 | 2.44 |
| 54 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 2.44 |
| 55 | Timothy syndrome type 1 | Enrichment | CACNA1C | 2.44 |
| 56 | Inflammatory bowel disease-recurrent sinopulmonary infections syndrome | Enrichment | NFAT5 | 2.44 |
| 57 | Cacna1c-related disorders | Enrichment | CACNA1C | 2.44 |
| 58 | Benign paroxysmal torticollis of infancy | Enrichment | CACNA1A | 2.44 |
| 59 | Benign samaritan congenital myopathy | Enrichment | RYR1 | 2.44 |
| 60 | Malignant hyperthermia 1 | Enrichment | RYR1 | 2.14 |
| 61 | Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | Enrichment | RYR2 | 2.14 |
| 62 | Amelogenesis imperfecta, type ig | Enrichment | PRKAR1A | 2.14 |
| 63 | Timothy syndrome | Enrichment | CACNA1C | 2.14 |
| 64 | Alternating hemiplegia of childhood 1 | Enrichment | CACNA1A | 2.14 |
| 65 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | PRKAR1A | 2.14 |
| 66 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 2.14 |
| 67 | Long qt syndrome 8 | Enrichment | CACNA1C | 2.14 |
| 68 | Marbach-schaaf neurodevelopmental syndrome | Enrichment | PRKAR1B | 2.14 |
| 69 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.14 |
| 70 | Usher syndrome, type iv | Enrichment | PRKAR1A | 2.14 |
| 71 | Ventricular tachycardia, catecholaminergic polymorphic, 2 | Enrichment | RYR2 | 2.14 |
| 72 | King-denborough syndrome | Enrichment | RYR1 | 2.14 |
| 73 | Acrodysostosis | Enrichment | PRKAR1A | 2.14 |
| 74 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.14 |
| 75 | Ciliary dyskinesia, primary, 18 | Enrichment | PRKAR1B | 2.14 |
| 76 | Congenital disorder of glycosylation, type iw, autosomal dominant | Enrichment | CACNA1D | 2.14 |
| 77 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | Enrichment | CACNA1B | 2.14 |
| 78 | Horizontal gaze palsy with progressive scoliosis | Enrichment | DCC | 2.14 |
| 79 | Exercise-induced malignant hyperthermia | Enrichment | RYR1 | 2.14 |
| 80 | Isolated primary pigmented nodular adrenocortical disease | Enrichment | PRKAR1A | 2.14 |
| 81 | Joint contractures, osteochondromas, and b-cell lymphoma | Enrichment | NFATC2 | 2.14 |
| 82 | Progressive bulbar palsy | Enrichment | CACNA1A | 2.14 |
| 83 | Cerebral palsy | Enrichment | CACNA1A, CACNA1C | 2.06 |
| 84 | Van der woude syndrome 1 | Enrichment | CACNA1E | 1.97 |
| 85 | Lynch syndrome 5 | Enrichment | RYR1 | 1.97 |
| 86 | Bronchopulmonary dysplasia | Enrichment | RYR1 | 1.97 |
| 87 | Thyrotoxic periodic paralysis | Enrichment | CACNA1S | 1.97 |
| 88 | Hereditary episodic ataxia | Enrichment | CACNA1A | 1.97 |
| 89 | Migraine, familial hemiplegic, 1 | Enrichment | CACNA1A | 1.84 |
| 90 | Congenital myopathy 1a, autosomal dominant, with malignant hyperthermia | Enrichment | RYR1 | 1.84 |
| 91 | Spinocerebellar ataxia 6 | Enrichment | CACNA1A | 1.84 |
| 92 | Myopathy, centronuclear, 2 | Enrichment | RYR1 | 1.84 |
| 93 | Sacral defect with anterior meningocele | Enrichment | RYR1 | 1.84 |
| 94 | Amyotrophy, monomelic | Enrichment | RYR3 | 1.84 |
| 95 | Developmental and epileptic encephalopathy 2 | Enrichment | CACNA1A | 1.84 |
| 96 | Carney complex variant | Enrichment | PRKAR1A | 1.84 |
| 97 | Arrhythmogenic right ventricular dysplasia, familial, 10 | Enrichment | PRKAR1A | 1.84 |
| 98 | Developmental and epileptic encephalopathy 42 | Enrichment | CACNA1A | 1.84 |
| 99 | Intellectual developmental disorder, autosomal dominant 26 | Enrichment | RYR1 | 1.84 |
| 100 | Developmental and epileptic encephalopathy 52 | Enrichment | CACNA1A | 1.84 |
| 101 | Congenital myopathy 1a | Enrichment | RYR1 | 1.84 |
| 102 | Episodic ataxia | Enrichment | CACNA1A | 1.84 |
| 103 | Familial or sporadic hemiplegic migraine | Enrichment | CACNA1A | 1.84 |
| 104 | Paroxysmal familial ventricular fibrillation | Enrichment | RYR2 | 1.84 |
| 105 | Episodic ataxia, type 2 | Enrichment | CACNA1A | 1.75 |
| 106 | Congenital myopathy 1b, autosomal recessive | Enrichment | RYR1 | 1.75 |
| 107 | Cardiac arrest | Enrichment | CACNA2D1 | 1.75 |
| 108 | Congenital short qt syndrome | Enrichment | CACNA2D1 | 1.75 |
| 109 | Hypokalemic periodic paralysis, type 1 | Enrichment | CACNA1S | 1.67 |
| 110 | Myopathy, centronuclear, 1 | Enrichment | RYR1 | 1.67 |
| 111 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | RYR2 | 1.67 |
| 112 | Adrenocortical carcinoma | Enrichment | PRKAR1A | 1.67 |
| 113 | Esophageal cancer | Enrichment | DCC | 1.60 |
| 114 | Brugada syndrome 1 | Enrichment | CACNA2D1 | 1.60 |
| 115 | Multiple pterygium syndrome, lethal type | Enrichment | RYR1 | 1.54 |
| 116 | Lennox-gastaut syndrome | Enrichment | CACNA1A | 1.54 |
| 117 | Alternating hemiplegia of childhood | Enrichment | CACNA1A | 1.54 |
| 118 | Congenital muscular dystrophy | Enrichment | RYR1 | 1.54 |
| 119 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | RYR2 | 1.54 |
| 120 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | RYR2 | 1.54 |
| 121 | Difference of sex development | Enrichment | CACNA1A | 1.54 |
| 122 | Migraine with or without aura 1 | Enrichment | CACNA1A | 1.41 |
| 123 | Epilepsy, myoclonic juvenile | Enrichment | CACNB4 | 1.41 |
| 124 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | RYR2 | 1.37 |
| 125 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | RYR2 | 1.37 |
| 126 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | RYR1 | 1.34 |
| 127 | Acute promyelocytic leukemia | Enrichment | PRKAR1A | 1.34 |
| 128 | Clubfoot | Enrichment | RYR1 | 1.34 |
| 129 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | RYR2 | 1.31 |
| 130 | Congenital myopathy 4a, autosomal dominant | Enrichment | RYR1 | 1.28 |
| 131 | Corpus callosum, agenesis of | Enrichment | DCC | 1.28 |
| 132 | Isolated corpus callosum agenesis | Enrichment | DCC | 1.28 |
| 133 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | DCC | 1.28 |
| 134 | Alzheimer disease, familial, 1 | Enrichment | UNC5C | 1.22 |
| 135 | Beckwith-wiedemann syndrome | Enrichment | RYR1 | 1.20 |
| 136 | Neuromuscular disease | Enrichment | RYR1 | 1.20 |
| 137 | Cardiomyopathy, dilated, 1a | Enrichment | NFATC2 | 1.14 |
| 138 | Complex neurodevelopmental disorder | Enrichment | CACNA1C, RAC3 | 1.13 |
| 139 | Kallmann syndrome | Enrichment | DCC | 1.10 |
| 140 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | CACNA1C | 1.08 |
| 141 | Scoliosis | Enrichment | RYR1 | 1.08 |
| 142 | Auditory neuropathy | Enrichment | CACNA1A | 1.05 |
| 143 | Strabismus | Enrichment | CACNA1A | 1.03 |
| 144 | Long qt syndrome 1 | Enrichment | CACNA1C | 0.99 |
| 145 | Left ventricular noncompaction | Enrichment | RYR2 | 0.92 |
| 146 | Developmental and epileptic encephalopathy | Enrichment | CACNA1E | 0.91 |
| 147 | Fetal akinesia deformation sequence 1 | Enrichment | RYR1 | 0.90 |
| 148 | Myopathy | Enrichment | RYR1 | 0.87 |
| 149 | Distal arthrogryposis | Enrichment | RYR1 | 0.85 |
| 150 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | PRKG1 | 0.83 |
| 151 | Autosomal dominant non-syndromic intellectual disability | Enrichment | PPP3CA | 0.78 |
| 152 | Spastic ataxia | Enrichment | CACNB4 | 0.76 |
| 153 | Primary ovarian insufficiency | Enrichment | RYR3 | 0.72 |
| 154 | Breast cancer | Enrichment | CACNA2D1 | 0.62 |
| 155 | Primary ciliary dyskinesia | Enrichment | PRKAR1B | 0.62 |
| 156 | Colorectal cancer | Enrichment | DCC | 0.57 |
| 157 | Congenital nervous system abnormality | Enrichment | CACNA1A | 0.50 |
| 158 | Nervous system disease | Enrichment | CACNA1A | 0.50 |
| 159 | Autism spectrum disorder | Enrichment | DCC | 0.49 |
| 160 | Inherited cancer-predisposing syndrome | Enrichment | PRKAR1A | 0.42 |