| 1 | Brugada syndrome | Enrichment | ABCC9, CACNA1C, CACNB2, HCN4, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, LMNA, SCN1B, SCN2B, SCN3B, SCN5A | 16.00 |
| 2 | Long qt syndrome | Enrichment | ANK2, CACNA1C, CASQ2, DSP, KCNE1, KCNH2, KCNJ5, KCNQ1, LMNA, RYR2, SCN5A | 16.00 |
| 3 | Cardiac conduction defect | Enrichment | CACNA1C, DSP, LMNA, PLN, RYR2, SCN1B, SCN5A | 11.36 |
| 4 | Long qt syndrome 1 | Enrichment | ANK2, CACNA1C, DSP, KCNE1, KCNE2, KCNH2, KCNJ5, KCNQ1, SCN4B, SCN5A | 11.15 |
| 5 | Familial atrial fibrillation | Enrichment | ABCC9, GJA5, KCNA5, KCNE1, KCNE2, KCNJ2, KCNJ3, KCNJ5, KCNQ1, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A | 10.57 |
| 6 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | DSP, JUP, LMNA, PLN, RYR2 | 8.75 |
| 7 | Wolff-parkinson-white syndrome | Enrichment | ABCC9, CASQ2, JUP, KCNQ1, SCN5A | 8.41 |
| 8 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | DSP, JUP, LMNA, RYR2, SCN5A | 8.41 |
| 9 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | DSP, JUP, LMNA, RYR2 | 6.93 |
| 10 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | DSP, JUP, LMNA, RYR2 | 6.93 |
| 11 | Congenital long qt syndrome | Enrichment | KCNE1, KCNH2, KCNQ1, SCN5A | 6.93 |
| 12 | Ventricular fibrillation, paroxysmal familial, 1 | Enrichment | CACNA1C, RYR2, SCN5A | 6.60 |
| 13 | Long qt syndrome 2 | Enrichment | KCNH2, KCNQ1, SCN5A | 6.60 |
| 14 | Left ventricular noncompaction | Enrichment | DSP, HCN4, LMNA, RYR2, SCN5A | 6.57 |
| 15 | Sudden infant death syndrome | Enrichment | KCNJ8, KCNQ1, PLN, SCN5A | 6.26 |
| 16 | Heart conduction disease | Enrichment | CACNA1C, RYR2, SCN5A | 6.20 |
| 17 | Cardiac arrest | Enrichment | DSP, PLN, SCN5A | 6.20 |
| 18 | Congenital short qt syndrome | Enrichment | KCNH2, KCNJ2, KCNQ1 | 6.20 |
| 19 | Dilated cardiomyopathy | Enrichment | DSP, JUP, KCNE1, LMNA, PLN, SCN5A | 6.10 |
| 20 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | ANK2, CASQ2, RYR2 | 5.90 |
| 21 | Familial isolated dilated cardiomyopathy | Enrichment | ABCC9, DSP, LMNA, PLN, SCN5A | 5.65 |
| 22 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | ANK2, CASQ2, RYR2 | 5.46 |
| 23 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | DSP, LMNA, PLN | 5.28 |
| 24 | Atrial standstill 1 | Enrichment | GJA5, SCN5A | 4.79 |
| 25 | Andersen cardiodysrhythmic periodic paralysis | Enrichment | KCNJ2, KCNJ5 | 4.79 |
| 26 | Ventricular tachycardia, catecholaminergic polymorphic, 2 | Enrichment | CASQ2, RYR2 | 4.79 |
| 27 | Jervell-lange nielsen syndrome | Enrichment | KCNE1, KCNQ1 | 4.79 |
| 28 | Cantu syndrome | Enrichment | ABCC9, KCNJ8 | 4.32 |
| 29 | Epidermolysis bullosa, lethal acantholytic | Enrichment | DSP, JUP | 4.32 |
| 30 | Dend syndrome | Enrichment | ABCC8, KCNJ11 | 4.32 |
| 31 | Jervell and lange-nielsen syndrome 1 | Enrichment | KCNE1, KCNQ1 | 4.02 |
| 32 | Atrial fibrillation | Enrichment | KCNQ1, SCN5A | 4.02 |
| 33 | Neonatal diabetes mellitus | Enrichment | ABCC8, KCNJ11 | 4.02 |
| 34 | Hereditary progressive cardiac conduction defect | Enrichment | SCN1B, SCN5A | 4.02 |
| 35 | Sick sinus syndrome | Enrichment | LMNA, SCN5A | 4.02 |
| 36 | Paroxysmal familial ventricular fibrillation | Enrichment | RYR2, SCN5A | 4.02 |
| 37 | Familial sick sinus syndrome | Enrichment | HCN4, SCN5A | 4.02 |
| 38 | Transient neonatal diabetes mellitus | Enrichment | ABCC8, KCNJ11 | 3.80 |
| 39 | Hypoglycemia | Enrichment | ABCC8, KCNJ11 | 3.80 |
| 40 | Hyperinsulinemic hypoglycemia, familial, 1 | Enrichment | ABCC8, KCNJ11 | 3.62 |
| 41 | Nonsyndromic genetic hyperinsulinism | Enrichment | ABCC8, KCNJ11 | 3.62 |
| 42 | Brugada syndrome 1 | Enrichment | KCNH2, SCN5A | 3.48 |
| 43 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CASQ2, RYR2 | 3.35 |
| 44 | Myocarditis | Enrichment | DSP, LMNA | 3.35 |
| 45 | Permanent neonatal diabetes mellitus | Enrichment | ABCC8, KCNJ11 | 3.35 |
| 46 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | DSP, SCN5A | 3.24 |
| 47 | Cardiomyopathy, dilated, 1e | Enrichment | LMNA, SCN5A | 2.68 |
| 48 | Maturity-onset diabetes of the young | Enrichment | ABCC8, KCNJ11 | 2.53 |
| 49 | Cardiomyopathy, dilated, 1a | Enrichment | DSP, LMNA | 2.49 |
| 50 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 2.39 |
| 51 | Sick sinus syndrome 2 | Enrichment | HCN4 | 2.39 |
| 52 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 2.39 |
| 53 | Hyperinsulinemic hypoglycemia, familial, 2 | Enrichment | KCNJ11 | 2.39 |
| 54 | Cardiac arrhythmia, ankyrin-b-related | Enrichment | ANK2 | 2.39 |
| 55 | Arrhythmogenic right ventricular dysplasia, familial, 12 | Enrichment | JUP | 2.39 |
| 56 | Atrial fibrillation, familial, 7 | Enrichment | KCNA5 | 2.39 |
| 57 | Long qt syndrome 13 | Enrichment | KCNJ5 | 2.39 |
| 58 | Brugada syndrome 4 | Enrichment | CACNB2 | 2.39 |
| 59 | Jervell and lange-nielsen syndrome 2 | Enrichment | KCNE1 | 2.39 |
| 60 | Short qt syndrome 3 | Enrichment | KCNJ2 | 2.39 |
| 61 | Resting heart rate, variation in | Enrichment | ADRB1 | 2.39 |
| 62 | Brugada syndrome 5 | Enrichment | SCN1B | 2.39 |
| 63 | Oculodentodigital dysplasia | Enrichment | GJA1 | 2.39 |
| 64 | Long qt syndrome 10 | Enrichment | SCN4B | 2.39 |
| 65 | Short qt syndrome 1 | Enrichment | KCNH2 | 2.39 |
| 66 | Long qt syndrome 5 | Enrichment | KCNE1 | 2.39 |
| 67 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 2.39 |
| 68 | Atrial fibrillation, familial, 14 | Enrichment | SCN2B | 2.39 |
| 69 | Naxos disease | Enrichment | JUP | 2.39 |
| 70 | Epilepsy, idiopathic generalized 17 | Enrichment | HCN2 | 2.39 |
| 71 | Intellectual disability and myopathy syndrome | Enrichment | ABCC9 | 2.39 |
| 72 | Epilepsy, idiopathic generalized 18 | Enrichment | HCN4 | 2.39 |
| 73 | Maturity-onset diabetes of the young, type 12 | Enrichment | ABCC8 | 2.39 |
| 74 | Long qt syndrome 4 | Enrichment | ANK2 | 2.39 |
| 75 | Atrial fibrillation, familial, 13 | Enrichment | SCN1B | 2.39 |
| 76 | Familial febrile seizures 2 | Enrichment | HCN2 | 2.39 |
| 77 | Hyperaldosteronism, familial, type iii | Enrichment | KCNJ5 | 2.39 |
| 78 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 2.39 |
| 79 | Diabetes mellitus, transient neonatal, 3 | Enrichment | KCNJ11 | 2.39 |
| 80 | Primary aldosteronism, seizures, and neurologic abnormalities | Enrichment | CACNA1D | 2.39 |
| 81 | Brugada syndrome 3 | Enrichment | CACNA1C | 2.39 |
| 82 | Epilepsy, childhood absence 6 | Enrichment | CACNA1H | 2.39 |
| 83 | Brugada syndrome 6 | Enrichment | KCNE3 | 2.39 |
| 84 | Spinocerebellar ataxia 19 | Enrichment | KCND3 | 2.39 |
| 85 | Sinoatrial node dysfunction and deafness | Enrichment | CACNA1D | 2.39 |
| 86 | Myopathy, vacuolar, with casq1 aggregates | Enrichment | CASQ1 | 2.39 |
| 87 | Diabetes mellitus, permanent neonatal, 2 | Enrichment | KCNJ11 | 2.39 |
| 88 | Pulmonary hypertension, primary, 4 | Enrichment | KCNK3 | 2.39 |
| 89 | Brugada syndrome 7 | Enrichment | SCN3B | 2.39 |
| 90 | Maturity-onset diabetes of the young, type 13 | Enrichment | KCNJ11 | 2.39 |
| 91 | Spinocerebellar ataxia 42 | Enrichment | CACNA1G | 2.39 |
| 92 | Atrial fibrillation, familial, 9 | Enrichment | KCNJ2 | 2.39 |
| 93 | Autosomal dominant hyperinsulinism due to sur1 deficiency | Enrichment | ABCC8 | 2.39 |
| 94 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | Enrichment | CACNA1G | 2.39 |
| 95 | Brugada syndrome 9 | Enrichment | KCND3 | 2.39 |
| 96 | Atypical werner syndrome | Enrichment | LMNA | 2.39 |
| 97 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 2.39 |
| 98 | Hyperaldosteronism, familial, type iv | Enrichment | CACNA1H | 2.39 |
| 99 | Short sleep, familial natural, 2 | Enrichment | ADRB1 | 2.39 |
| 100 | Myopathy due to calsequestrin and serca1 protein overload | Enrichment | CASQ1 | 2.39 |
| 101 | Mandibuloacral dysplasia | Enrichment | LMNA | 2.39 |
| 102 | Atrioventricular block | Enrichment | LMNA | 2.39 |
| 103 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome | Enrichment | DSP | 2.39 |
| 104 | Lipodystrophy, familial partial, type 8 | Enrichment | ADRA2A | 2.39 |
| 105 | Spinocerebellar ataxia type 19/22 | Enrichment | KCND3 | 2.39 |
| 106 | Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency | Enrichment | ABCC8 | 2.39 |
| 107 | Rhabdomyolysis 2 | Enrichment | ATP2A2 | 2.39 |
| 108 | Conn's syndrome | Enrichment | CACNA1H | 2.39 |
| 109 | Congestive heart failure | Enrichment | ABCC8 | 2.39 |
| 110 | Atypical timothy syndrome | Enrichment | CACNA1C | 2.39 |
| 111 | Aldosterone-producing adenoma with seizures and neurological abnormalities | Enrichment | CACNA1D | 2.39 |
| 112 | Intermediate dend syndrome | Enrichment | KCNJ11 | 2.39 |
| 113 | Lmna-related cardiocutaneous progeria syndrome | Enrichment | LMNA | 2.39 |
| 114 | Timothy syndrome type 2 | Enrichment | CACNA1C | 2.39 |
| 115 | Autosomal semi-dominant severe lipodystrophic laminopathy | Enrichment | LMNA | 2.39 |
| 116 | Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency | Enrichment | KCNJ11 | 2.39 |
| 117 | Timothy syndrome type 1 | Enrichment | CACNA1C | 2.39 |
| 118 | Autosomal recessive hyperinsulinism due to sur1 deficiency | Enrichment | ABCC8 | 2.39 |
| 119 | Cacna1c-related disorders | Enrichment | CACNA1C | 2.39 |
| 120 | Autosomal recessive axonal hereditary motor and sensory neuropathy | Enrichment | LMNA | 2.39 |
| 121 | Laminopathy | Enrichment | LMNA | 2.39 |
| 122 | Autosomal dominant hyperinsulinism due to kir6.2 deficiency | Enrichment | KCNJ11 | 2.39 |
| 123 | Autosomal recessive hyperinsulinism due to kir6.2 deficiency | Enrichment | KCNJ11 | 2.39 |
| 124 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | CACNA1C, LMNA | 2.38 |
| 125 | Progressive familial heart block, type ia | Enrichment | SCN5A | 2.09 |
| 126 | Acrokeratosis verruciformis | Enrichment | ATP2A2 | 2.09 |
| 127 | Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | Enrichment | RYR2 | 2.09 |
| 128 | Mandibuloacral dysplasia with type a lipodystrophy | Enrichment | LMNA | 2.09 |
| 129 | Brody disease | Enrichment | ATP2A1 | 2.09 |
| 130 | Timothy syndrome | Enrichment | CACNA1C | 2.09 |
| 131 | Arrhythmogenic right ventricular dysplasia, familial, 8 | Enrichment | DSP | 2.09 |
| 132 | Cardiomyopathy, dilated, 1o | Enrichment | ABCC9 | 2.09 |
| 133 | Sick sinus syndrome 1 | Enrichment | SCN5A | 2.09 |
| 134 | Heart-hand syndrome, slovenian type | Enrichment | LMNA | 2.09 |
| 135 | Cardiomyopathy, dilated, 1p | Enrichment | PLN | 2.09 |
| 136 | Charcot-marie-tooth disease, axonal, type 2b1 | Enrichment | LMNA | 2.09 |
| 137 | Diabetes mellitus, permanent neonatal, 1 | Enrichment | KCNJ11 | 2.09 |
| 138 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism | Enrichment | LMNA | 2.09 |
| 139 | Hallermann-streiff syndrome | Enrichment | GJA1 | 2.09 |
| 140 | Hypoglycemia, leucine-induced | Enrichment | ABCC8 | 2.09 |
| 141 | Atrial fibrillation, familial, 10 | Enrichment | SCN5A | 2.09 |
| 142 | Long qt syndrome 6 | Enrichment | KCNE2 | 2.09 |
| 143 | Atrial fibrillation, familial, 11 | Enrichment | GJA5 | 2.09 |
| 144 | Atrial fibrillation, familial, 12 | Enrichment | ABCC9 | 2.09 |
| 145 | Diabetes mellitus, transient neonatal, 2 | Enrichment | ABCC8 | 2.09 |
| 146 | Syndactyly, type iii | Enrichment | GJA1 | 2.09 |
| 147 | Syndactyly, type v | Enrichment | GJA1 | 2.09 |
| 148 | Cardiomyopathy, familial hypertrophic, 18 | Enrichment | PLN | 2.09 |
| 149 | Keratosis palmoplantaris striata ii | Enrichment | DSP | 2.09 |
| 150 | Atrial fibrillation, familial, 4 | Enrichment | KCNE2 | 2.09 |
| 151 | Long qt syndrome 3 | Enrichment | SCN5A | 2.09 |
| 152 | Long qt syndrome 8 | Enrichment | CACNA1C | 2.09 |
| 153 | Cardiomyopathy, dilated, 1d | Enrichment | LMNA | 2.09 |
| 154 | Sinoatrial node disease | Enrichment | SCN5A | 2.09 |
| 155 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | Enrichment | DSP | 2.09 |
| 156 | Restrictive dermopathy 2 | Enrichment | LMNA | 2.09 |
| 157 | Emery-dreifuss muscular dystrophy 3, autosomal recessive | Enrichment | LMNA | 2.09 |
| 158 | Charcot-marie-tooth disease, axonal, type 2dd | Enrichment | ATP1A1 | 2.09 |
| 159 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 2.09 |
| 160 | Progressive familial heart block | Enrichment | DSP | 2.09 |
| 161 | Cardiovascular system disease | Enrichment | KCNQ1 | 2.09 |
| 162 | Lipodystrophy, familial partial, type 1 | Enrichment | LMNA | 2.09 |
| 163 | Cardiomyopathy, dilated, with woolly hair and keratoderma | Enrichment | DSP | 2.09 |
| 164 | Hypomagnesemia, seizures, and impaired intellectual development 2 | Enrichment | ATP1A1 | 2.09 |
| 165 | Diabetes mellitus, permanent neonatal, 3 | Enrichment | ABCC8 | 2.09 |
| 166 | Congenital disorder of glycosylation, type iw, autosomal dominant | Enrichment | CACNA1D | 2.09 |
| 167 | Familial partial lipodystrophy | Enrichment | LMNA | 2.09 |
| 168 | Hyperinsulinism | Enrichment | KCNJ11 | 2.09 |
| 169 | Isolated atrial standstill | Enrichment | SCN5A | 2.09 |
| 170 | Charcot-marie-tooth disease type 2b1 | Enrichment | LMNA | 2.09 |
| 171 | Darier-white disease | Enrichment | ATP2A2 | 1.92 |
| 172 | Platelet disorder, familial, with associated myeloid malignancy | Enrichment | KCNE2 | 1.92 |
| 173 | Restrictive dermopathy 1 | Enrichment | LMNA | 1.92 |
| 174 | Atrial fibrillation, familial, 3 | Enrichment | KCNQ1 | 1.92 |
| 175 | Generalized epilepsy with febrile seizures plus, type 1 | Enrichment | SCN1B | 1.92 |
| 176 | Short qt syndrome 2 | Enrichment | KCNQ1 | 1.92 |
| 177 | Lipodystrophy, familial partial, type 2 | Enrichment | LMNA | 1.92 |
| 178 | Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation | Enrichment | KCNH2 | 1.92 |
| 179 | Muscular dystrophy, congenital, lmna-related | Enrichment | LMNA | 1.92 |
| 180 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | Enrichment | DSP | 1.92 |
| 181 | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | Enrichment | CACNA1C | 1.92 |
| 182 | Woolly hair-skin fragility syndrome | Enrichment | DSP | 1.92 |
| 183 | Keratosis palmoplantaris striata | Enrichment | DSP | 1.92 |
| 184 | Intrinsic cardiomyopathy | Enrichment | PLN | 1.92 |
| 185 | Hyperinsulinemic hypoglycemia | Enrichment | ABCC8 | 1.92 |
| 186 | Brugada syndrome 8 | Enrichment | HCN4 | 1.92 |
| 187 | Restrictive dermopathy | Enrichment | LMNA | 1.92 |
| 188 | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1 | Enrichment | KCNE2 | 1.92 |
| 189 | Type 2 diabetes mellitus | Enrichment | ABCC8, KCNJ11 | 1.90 |
| 190 | Hutchinson-gilford progeria syndrome | Enrichment | LMNA | 1.79 |
| 191 | Emery-dreifuss muscular dystrophy 1, x-linked | Enrichment | LMNA | 1.79 |
| 192 | Dermatitis, atopic | Enrichment | KCNJ11 | 1.79 |
| 193 | Microtia-anotia | Enrichment | LMNA | 1.79 |
| 194 | Amme complex | Enrichment | KCNE5 | 1.79 |
| 195 | Cardiomyopathy, familial hypertrophic, 26 | Enrichment | KCNH2 | 1.79 |
| 196 | Developmental and epileptic encephalopathy 52 | Enrichment | SCN1B | 1.79 |
| 197 | Emery-dreifuss muscular dystrophy | Enrichment | LMNA | 1.79 |
| 198 | Pregnancy loss, recurrent 1 | Enrichment | KCNQ1 | 1.79 |
| 199 | Newborn respiratory distress syndrome | Enrichment | ABCC8 | 1.79 |
| 200 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | LMNA | 1.70 |
| 201 | Polyhydramnios | Enrichment | ABCC8 | 1.70 |
| 202 | Histiocytoid hemangioma | Enrichment | LMNA | 1.70 |
| 203 | Cleft upper lip | Enrichment | GJA1 | 1.70 |
| 204 | Hypokalemic periodic paralysis, type 1 | Enrichment | KCNE3 | 1.62 |
| 205 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | Enrichment | LMNA | 1.62 |
| 206 | Kleefstra syndrome 1 | Enrichment | ABCC9 | 1.62 |
| 207 | Patent ductus arteriosus | Enrichment | ABCC9 | 1.62 |
| 208 | Hypertrichosis | Enrichment | KCNJ11 | 1.62 |
| 209 | Inherited arrhythmogenic cardiomyopathy | Enrichment | DSP | 1.62 |
| 210 | Childhood absence epilepsy | Enrichment | CACNA1H | 1.62 |
| 211 | Bethlem myopathy 1a | Enrichment | LMNA | 1.55 |
| 212 | Silver-russell syndrome 1 | Enrichment | KCNQ1 | 1.55 |
| 213 | Third-degree atrioventricular block | Enrichment | KCNA5 | 1.55 |
| 214 | Gastroesophageal reflux | Enrichment | ABCC8 | 1.50 |
| 215 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1 | 1.50 |
| 216 | Myopathy, tubular aggregate, 1 | Enrichment | CASQ1 | 1.50 |
| 217 | Fanconi anemia, complementation group c | Enrichment | ABCC9 | 1.50 |
| 218 | Congenital muscular dystrophy | Enrichment | LMNA | 1.50 |
| 219 | Hypoplastic left heart syndrome | Enrichment | GJA1 | 1.50 |
| 220 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | CACNA1C | 1.44 |
| 221 | Primary hyperaldosteronism | Enrichment | CACNA1H | 1.44 |
| 222 | Dravet syndrome | Enrichment | SCN1B | 1.40 |
| 223 | Rare genetic deafness | Enrichment | KCNE1, KCNQ1 | 1.39 |
| 224 | Epilepsy, idiopathic generalized | Enrichment | CACNA1H | 1.36 |
| 225 | Atrial heart septal defect | Enrichment | ABCC8 | 1.36 |
| 226 | Diabetes mellitus | Enrichment | KCNJ11 | 1.36 |
| 227 | Heritable pulmonary arterial hypertension | Enrichment | KCNK3 | 1.36 |
| 228 | Interatrial communication | Enrichment | ABCC8 | 1.36 |
| 229 | Epicanthus | Enrichment | ABCC9 | 1.32 |
| 230 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | LMNA | 1.32 |
| 231 | Aortic valve disease 1 | Enrichment | DSP | 1.29 |
| 232 | Pulmonary hypertension, primary, 1 | Enrichment | KCNK3 | 1.29 |
| 233 | Chromosome 1p36 deletion syndrome | Enrichment | KCNAB2 | 1.29 |
| 234 | Generalized epilepsy with febrile seizures plus | Enrichment | SCN1B | 1.26 |
| 235 | Interstitial lung disease 2 | Enrichment | DSP | 1.18 |
| 236 | Beckwith-wiedemann syndrome | Enrichment | KCNQ1 | 1.15 |
| 237 | Neuromuscular disease | Enrichment | LMNA | 1.15 |
| 238 | Early infantile developmental and epileptic encephalopathy | Enrichment | SCN1B | 1.15 |
| 239 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | LMNA | 1.13 |
| 240 | Cardiomyopathy, dilated, 1g | Enrichment | DSP | 1.07 |
| 241 | Complex neurodevelopmental disorder | Enrichment | ANK2, CACNA1C | 1.05 |
| 242 | Ear malformation | Enrichment | KCNQ1 | 1.03 |
| 243 | Muscular dystrophy | Enrichment | LMNA | 1.03 |
| 244 | Tetralogy of fallot | Enrichment | GJA5 | 1.00 |
| 245 | Peripheral nervous system disease | Enrichment | LMNA | 0.91 |
| 246 | Neuropathy | Enrichment | LMNA | 0.91 |
| 247 | Familial hypertrophic cardiomyopathy | Enrichment | KCNH2 | 0.90 |
| 248 | Fetal akinesia deformation sequence 1 | Enrichment | SCN5A | 0.85 |
| 249 | Cerebral palsy | Enrichment | CACNA1C | 0.83 |
| 250 | Charcot-marie-tooth disease | Enrichment | LMNA | 0.81 |
| 251 | Benign epilepsy with centrotemporal spikes | Enrichment | SCN1B | 0.81 |
| 252 | Distal arthrogryposis | Enrichment | SCN5A | 0.80 |
| 253 | Centralopathic epilepsy | Enrichment | SCN1B | 0.79 |
| 254 | Hypertrophic cardiomyopathy | Enrichment | PLN | 0.79 |
| 255 | Sensorineural hearing loss | Enrichment | KCNE1 | 0.75 |
| 256 | Body mass index quantitative trait locus 11 | Enrichment | KCNH2 | 0.73 |
| 257 | Spastic ataxia | Enrichment | CACNA1G | 0.71 |
| 258 | Undetermined early-onset epileptic encephalopathy | Enrichment | SCN1B | 0.69 |
| 259 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJA1 | 0.52 |
| 260 | Autism spectrum disorder | Enrichment | ANK2 | 0.44 |