| 1 | Seizures, benign familial neonatal, 2 | Enrichment | KCNQ2, KCNQ3 | 4.75 |
| 2 | Self-limited neonatal epilepsy | Enrichment | KCNQ2, KCNQ3 | 4.75 |
| 3 | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | Enrichment | CACNA1A, CACNA1C | 4.27 |
| 4 | Self-limited infantile epilepsy | Enrichment | KCNQ2, KCNQ3 | 3.75 |
| 5 | Congenital short qt syndrome | Enrichment | CACNA2D1, KCNQ1 | 3.75 |
| 6 | Brugada syndrome | Enrichment | CACNA1C, CACNA2D1, CACNB2 | 3.75 |
| 7 | Long qt syndrome | Enrichment | CACNA1C, CACNA1S, KCNQ1 | 3.51 |
| 8 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B | 3.43 |
| 9 | Developmental and epileptic encephalopathy | Enrichment | CACNA1E, CACNA2D2, KCNQ2 | 3.32 |
| 10 | Colorectal cancer | Enrichment | AKT1, CTNNB1, PLA2G2A, PPARG | 3.29 |
| 11 | Epilepsy, myoclonic juvenile | Enrichment | CACNB4, KCNQ3 | 3.02 |
| 12 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CACNA1I, KCNQ2, KCNQ5 | 2.90 |
| 13 | Cone-rod dystrophy 6 | Enrichment | CACNA1F, CACNA2D4 | 2.80 |
| 14 | Undetermined early-onset epileptic encephalopathy | Enrichment | CACNA1A, CACNA1B, CACNA2D1 | 2.76 |
| 15 | Proteus syndrome | Enrichment | AKT1 | 2.37 |
| 16 | Hyperchlorhidrosis, isolated | Enrichment | CA12 | 2.37 |
| 17 | Thyrotoxic periodic paralysis 1 | Enrichment | CACNA1S | 2.37 |
| 18 | Asthma-related traits 1 | Enrichment | PTGDR | 2.37 |
| 19 | Epilepsy, idiopathic generalized 9 | Enrichment | CACNB4 | 2.37 |
| 20 | Brugada syndrome 4 | Enrichment | CACNB2 | 2.37 |
| 21 | Ghosal hematodiaphyseal dysplasia | Enrichment | TBXAS1 | 2.37 |
| 22 | Developmental and epileptic encephalopathy 7 | Enrichment | KCNQ2 | 2.37 |
| 23 | Episodic ataxia, type 5 | Enrichment | CACNB4 | 2.37 |
| 24 | Neurodevelopmental disorder with speech impairment and with or without seizures | Enrichment | CACNA1I | 2.37 |
| 25 | Congenital myopathy 18 | Enrichment | CACNA1S | 2.37 |
| 26 | Bleeding disorder, platelet-type, 13 | Enrichment | TBXA2R | 2.37 |
| 27 | Cone-rod dystrophy, x-linked, 3 | Enrichment | CACNA1F | 2.37 |
| 28 | Retinal cone dystrophy 4 | Enrichment | CACNA2D4 | 2.37 |
| 29 | Primary aldosteronism, seizures, and neurologic abnormalities | Enrichment | CACNA1D | 2.37 |
| 30 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.37 |
| 31 | Brugada syndrome 3 | Enrichment | CACNA1C | 2.37 |
| 32 | Epilepsy, childhood absence 6 | Enrichment | CACNA1H | 2.37 |
| 33 | Malignant hyperthermia 5 | Enrichment | CACNA1S | 2.37 |
| 34 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.37 |
| 35 | Sinoatrial node dysfunction and deafness | Enrichment | CACNA1D | 2.37 |
| 36 | Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder | Enrichment | PLA2G4A | 2.37 |
| 37 | Cowden syndrome 6 | Enrichment | AKT1 | 2.37 |
| 38 | Spinocerebellar ataxia 42 | Enrichment | CACNA1G | 2.37 |
| 39 | Developmental and epileptic encephalopathy 110 | Enrichment | CACNA2D1 | 2.37 |
| 40 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | Enrichment | CACNA1G | 2.37 |
| 41 | Developmental and epileptic encephalopathy 69 | Enrichment | CACNA1E | 2.37 |
| 42 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets | Enrichment | PLA2G4A | 2.37 |
| 43 | Hyperaldosteronism, familial, type iv | Enrichment | CACNA1H | 2.37 |
| 44 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.37 |
| 45 | Pparg-associated congenital generalized lipodystrophy | Enrichment | PPARG | 2.37 |
| 46 | Kcnq3-related disorders | Enrichment | KCNQ3 | 2.37 |
| 47 | Rhabdomyolysis 2 | Enrichment | ATP2A2 | 2.37 |
| 48 | Conn's syndrome | Enrichment | CACNA1H | 2.37 |
| 49 | Sporadic hemiplegic migraine | Enrichment | CACNA1A | 2.37 |
| 50 | Atypical timothy syndrome | Enrichment | CACNA1C | 2.37 |
| 51 | Aldosterone-producing adenoma with seizures and neurological abnormalities | Enrichment | CACNA1D | 2.37 |
| 52 | Bleeding diathesis due to thromboxane synthesis deficiency | Enrichment | TBXA2R | 2.37 |
| 53 | Cryptogenic multifocal ulcerous stenosing enteritis | Enrichment | PLA2G4A | 2.37 |
| 54 | Timothy syndrome type 2 | Enrichment | CACNA1C | 2.37 |
| 55 | Kcnq2-related disorders | Enrichment | KCNQ2 | 2.37 |
| 56 | Periodic paralysis with transient compartment-like syndrome | Enrichment | CACNA1S | 2.37 |
| 57 | Timothy syndrome type 1 | Enrichment | CACNA1C | 2.37 |
| 58 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.37 |
| 59 | Cacna1c-related disorders | Enrichment | CACNA1C | 2.37 |
| 60 | Benign paroxysmal torticollis of infancy | Enrichment | CACNA1A | 2.37 |
| 61 | Congenital stationary night blindness | Enrichment | CACNA1F, CACNA2D4 | 2.37 |
| 62 | Bladder cancer | Enrichment | CDKN1A, CTNNB1 | 2.17 |
| 63 | Long qt syndrome 1 | Enrichment | CACNA1C, KCNQ1 | 2.14 |
| 64 | Seizures, benign familial neonatal, 1 | Enrichment | KCNQ2 | 2.07 |
| 65 | Acrokeratosis verruciformis | Enrichment | ATP2A2 | 2.07 |
| 66 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.07 |
| 67 | Brody disease | Enrichment | ATP2A1 | 2.07 |
| 68 | Timothy syndrome | Enrichment | CACNA1C | 2.07 |
| 69 | Deafness, autosomal dominant 2a | Enrichment | KCNQ4 | 2.07 |
| 70 | Carotid intimal medial thickness 1 | Enrichment | PPARG | 2.07 |
| 71 | Night blindness, congenital stationary, type 2a | Enrichment | CACNA1F | 2.07 |
| 72 | Alternating hemiplegia of childhood 1 | Enrichment | CACNA1A | 2.07 |
| 73 | Seizures, benign familial infantile, 3 | Enrichment | KCNQ2 | 2.07 |
| 74 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.07 |
| 75 | Bleeding disorder, platelet-type, 14 | Enrichment | TBXAS1 | 2.07 |
| 76 | Long qt syndrome 8 | Enrichment | CACNA1C | 2.07 |
| 77 | Intellectual developmental disorder, autosomal dominant 46 | Enrichment | KCNQ5 | 2.07 |
| 78 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.07 |
| 79 | Cardiovascular system disease | Enrichment | KCNQ1 | 2.07 |
| 80 | Benign familial neonatal epilepsy | Enrichment | KCNQ3 | 2.07 |
| 81 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 2.07 |
| 82 | Ichthyosis, congenital, autosomal recessive 10 | Enrichment | KCNQ2 | 2.07 |
| 83 | Congenital disorder of glycosylation, type iw, autosomal dominant | Enrichment | CACNA1D | 2.07 |
| 84 | Seizures, benign familial infantile, 5 | Enrichment | KCNQ3 | 2.07 |
| 85 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | Enrichment | CACNA1B | 2.07 |
| 86 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.07 |
| 87 | Metaphyseal anadysplasia | Enrichment | MMP9 | 2.07 |
| 88 | Dfna2 nonsyndromic hearing loss | Enrichment | KCNQ4 | 2.07 |
| 89 | Familial partial lipodystrophy | Enrichment | PPARG | 2.07 |
| 90 | Jervell-lange nielsen syndrome | Enrichment | KCNQ1 | 2.07 |
| 91 | Benign neonatal seizures | Enrichment | KCNQ3 | 2.07 |
| 92 | Teratoma | Enrichment | CTNNB1 | 2.07 |
| 93 | Progressive bulbar palsy | Enrichment | CACNA1A | 2.07 |
| 94 | Ovarian cancer | Enrichment | AKT1, CDKN1B, CTNNB1 | 2.04 |
| 95 | Eye disease | Enrichment | CACNA1F, CACNA2D4 | 2.01 |
| 96 | Cerebral palsy | Enrichment | CACNA1A, CACNA1C | 1.92 |
| 97 | Darier-white disease | Enrichment | ATP2A2 | 1.89 |
| 98 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.89 |
| 99 | Van der woude syndrome 1 | Enrichment | CACNA1E | 1.89 |
| 100 | Asthma, nasal polyps, and aspirin intolerance | Enrichment | PTGER2 | 1.89 |
| 101 | Atrial fibrillation, familial, 3 | Enrichment | KCNQ1 | 1.89 |
| 102 | Short qt syndrome 2 | Enrichment | KCNQ1 | 1.89 |
| 103 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.89 |
| 104 | Anus, imperforate | Enrichment | CTNNB1 | 1.89 |
| 105 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.89 |
| 106 | Desmoid tumor | Enrichment | CTNNB1 | 1.89 |
| 107 | Myxoid liposarcoma | Enrichment | DDIT3 | 1.89 |
| 108 | Thyrotoxic periodic paralysis | Enrichment | CACNA1S | 1.89 |
| 109 | Hereditary episodic ataxia | Enrichment | CACNA1A | 1.89 |
| 110 | Migraine, familial hemiplegic, 1 | Enrichment | CACNA1A | 1.77 |
| 111 | Jervell and lange-nielsen syndrome 1 | Enrichment | KCNQ1 | 1.77 |
| 112 | Spinocerebellar ataxia 6 | Enrichment | CACNA1A | 1.77 |
| 113 | Aland island eye disease | Enrichment | CACNA1F | 1.77 |
| 114 | Developmental and epileptic encephalopathy 2 | Enrichment | CACNA1A | 1.77 |
| 115 | Ventricular fibrillation, paroxysmal familial, 1 | Enrichment | CACNA1C | 1.77 |
| 116 | Lipodystrophy, familial partial, type 3 | Enrichment | PPARG | 1.77 |
| 117 | Pilomatrixoma | Enrichment | CTNNB1 | 1.77 |
| 118 | Long qt syndrome 2 | Enrichment | KCNQ1 | 1.77 |
| 119 | Developmental and epileptic encephalopathy 42 | Enrichment | CACNA1A | 1.77 |
| 120 | Leptin deficiency or dysfunction | Enrichment | PPARG | 1.77 |
| 121 | Alazami syndrome | Enrichment | CTNNB1 | 1.77 |
| 122 | Congenital generalized lipodystrophy | Enrichment | PPARG | 1.77 |
| 123 | Cerebellar atrophy with seizures and variable developmental delay | Enrichment | CACNA2D2 | 1.77 |
| 124 | Developmental and epileptic encephalopathy 52 | Enrichment | CACNA1A | 1.77 |
| 125 | Atrial fibrillation | Enrichment | KCNQ1 | 1.77 |
| 126 | Craniopharyngioma | Enrichment | CTNNB1 | 1.77 |
| 127 | Pregnancy loss, recurrent 1 | Enrichment | KCNQ1 | 1.77 |
| 128 | Malignant hyperthermia | Enrichment | CACNA1S | 1.77 |
| 129 | Episodic ataxia | Enrichment | CACNA1A | 1.77 |
| 130 | Familial or sporadic hemiplegic migraine | Enrichment | CACNA1A | 1.77 |
| 131 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.77 |
| 132 | Episodic ataxia, type 2 | Enrichment | CACNA1A | 1.67 |
| 133 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.67 |
| 134 | Heart conduction disease | Enrichment | CACNA1C | 1.67 |
| 135 | Amblyopia | Enrichment | CACNA1F | 1.67 |
| 136 | Cardiac arrest | Enrichment | CACNA2D1 | 1.67 |
| 137 | Spastic ataxia | Enrichment | CACNA1G, CACNB4 | 1.67 |
| 138 | Hypokalemic periodic paralysis, type 1 | Enrichment | CACNA1S | 1.60 |
| 139 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.60 |
| 140 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.60 |
| 141 | Breast adenocarcinoma | Enrichment | AKT1 | 1.60 |
| 142 | Childhood absence epilepsy | Enrichment | CACNA1H | 1.60 |
| 143 | Silver-russell syndrome 1 | Enrichment | KCNQ1 | 1.53 |
| 144 | Brugada syndrome 1 | Enrichment | CACNA2D1 | 1.53 |
| 145 | Gallbladder cancer | Enrichment | CTNNB1 | 1.53 |
| 146 | Lennox-gastaut syndrome | Enrichment | CACNA1A | 1.47 |
| 147 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.47 |
| 148 | Alternating hemiplegia of childhood | Enrichment | CACNA1A | 1.47 |
| 149 | Difference of sex development | Enrichment | CACNA1A | 1.47 |
| 150 | Cone-rod dystrophy 2 | Enrichment | CACNA1F, CACNA2D4 | 1.47 |
| 151 | Developmental and epileptic encephalopathy 14 | Enrichment | KCNQ2 | 1.42 |
| 152 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | CACNA1C | 1.42 |
| 153 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.42 |
| 154 | Primary hyperaldosteronism | Enrichment | CACNA1H | 1.42 |
| 155 | Cowden syndrome | Enrichment | AKT1 | 1.42 |
| 156 | Breast cancer | Enrichment | AKT1, CACNA2D1 | 1.39 |
| 157 | Familial colorectal cancer | Enrichment | PLA2G2A | 1.38 |
| 158 | Rare genetic deafness | Enrichment | KCNQ1, KCNQ4 | 1.35 |
| 159 | Migraine with or without aura 1 | Enrichment | CACNA1A | 1.34 |
| 160 | Epilepsy, idiopathic generalized | Enrichment | CACNA1H | 1.34 |
| 161 | Cardiac conduction defect | Enrichment | CACNA1C | 1.30 |
| 162 | Epicanthus | Enrichment | KCNQ2 | 1.30 |
| 163 | Meningioma | Enrichment | AKT1 | 1.30 |
| 164 | Congenital long qt syndrome | Enrichment | KCNQ1 | 1.30 |
| 165 | Medulloblastoma | Enrichment | CTNNB1 | 1.23 |
| 166 | Myopia | Enrichment | CACNA1F | 1.21 |
| 167 | Wolff-parkinson-white syndrome | Enrichment | KCNQ1 | 1.18 |
| 168 | Gliosarcoma | Enrichment | PPARG | 1.18 |
| 169 | Hypertension, essential | Enrichment | PTGIS | 1.15 |
| 170 | Sudden infant death syndrome | Enrichment | KCNQ1 | 1.15 |
| 171 | Polycystic liver disease | Enrichment | CTNNB1 | 1.15 |
| 172 | Giant cell glioblastoma | Enrichment | PPARG | 1.15 |
| 173 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.15 |
| 174 | Beckwith-wiedemann syndrome | Enrichment | KCNQ1 | 1.13 |
| 175 | Congenital nervous system abnormality | Enrichment | CACNA1A, CTNNB1 | 1.12 |
| 176 | Nervous system disease | Enrichment | CACNA1A, CTNNB1 | 1.12 |
| 177 | Congenital myopathy | Enrichment | CACNA1S | 1.11 |
| 178 | Centronuclear myopathy | Enrichment | CACNA1S | 1.06 |
| 179 | Hepatoblastoma | Enrichment | CTNNB1 | 1.06 |
| 180 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 1.05 |
| 181 | Ear malformation | Enrichment | KCNQ1 | 1.01 |
| 182 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | CACNA1C | 1.01 |
| 183 | Familial atrial fibrillation | Enrichment | KCNQ1 | 1.01 |
| 184 | Cone dystrophy | Enrichment | CACNA2D4 | 1.01 |
| 185 | Developmental and epileptic encephalopathy 1 | Enrichment | KCNQ2 | 0.99 |
| 186 | Auditory neuropathy | Enrichment | CACNA1A | 0.98 |
| 187 | Strabismus | Enrichment | CACNA1A | 0.96 |
| 188 | Differentiated thyroid carcinoma | Enrichment | PPARG | 0.93 |
| 189 | Non-syndromic genetic deafness | Enrichment | KCNQ4 | 0.84 |
| 190 | Benign epilepsy with centrotemporal spikes | Enrichment | KCNQ3 | 0.79 |
| 191 | Type 2 diabetes mellitus | Enrichment | PPARG | 0.78 |
| 192 | Nonsyndromic hearing loss | Enrichment | KCNQ4 | 0.78 |
| 193 | Centralopathic epilepsy | Enrichment | KCNQ3 | 0.77 |
| 194 | Optic atrophy plus syndrome | Enrichment | CACNA1F | 0.76 |
| 195 | West syndrome | Enrichment | KCNQ2 | 0.76 |
| 196 | Hereditary breast carcinoma | Enrichment | AKT1 | 0.76 |
| 197 | Body mass index quantitative trait locus 11 | Enrichment | PPARG | 0.71 |
| 198 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | KCNQ4 | 0.70 |
| 199 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1 | 0.68 |
| 200 | Retinitis pigmentosa | Enrichment | CACNA1F, CACNA2D4 | 0.64 |
| 201 | Hereditary retinal dystrophy | Enrichment | CACNA1F, CACNA2D4 | 0.45 |
| 202 | Fundus dystrophy | Enrichment | CACNA1F, CACNA2D4 | 0.45 |
| 203 | Microcephaly | Enrichment | CTNNB1 | 0.39 |
| 204 | Complex neurodevelopmental disorder | Enrichment | CACNA1C | 0.38 |
| 205 | Inherited cancer-predisposing syndrome | Enrichment | CDKN1B | 0.36 |