| 1 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2, LMOD1, MYH11, MYLK | 9.91 |
| 2 | Visceral myopathy 1 | Enrichment | ACTG2, LMOD1, MYH11, MYLK | 9.27 |
| 3 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 5.72 |
| 4 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3, CAV3 | 5.57 |
| 5 | Cap myopathy | Enrichment | TPM2, TPM3 | 4.49 |
| 6 | Long qt syndrome | Enrichment | CALM1, CALM2, CAV3 | 3.84 |
| 7 | Moyamoya disease 1 | Enrichment | ACTA2, GUCY1A1 | 3.80 |
| 8 | Inflammatory myofibroblastic tumor | Enrichment | TPM3, TPM4 | 3.80 |
| 9 | Intestinal pseudo-obstruction | Enrichment | ACTG2, MYH11 | 3.80 |
| 10 | Childhood-onset nemaline myopathy | Enrichment | TPM2, TPM3 | 3.65 |
| 11 | Familial thoracic aortic aneurysm and dissection | Enrichment | MYH11, MYLK | 3.42 |
| 12 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2, MYH11, MYLK | 3.39 |
| 13 | Nemaline myopathy | Enrichment | TPM2, TPM3 | 3.32 |
| 14 | Aortic aneurysm, familial thoracic 1 | Enrichment | MYH11, MYLK | 3.02 |
| 15 | Congenital myopathy 4a, autosomal dominant | Enrichment | TPM2, TPM3 | 2.96 |
| 16 | Sudden infant death syndrome | Enrichment | CALM2, CAV3 | 2.85 |
| 17 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | CAV3, TPM1 | 2.55 |
| 18 | Cardiomyopathy, familial hypertrophic, 3 | Enrichment | TPM1 | 2.48 |
| 19 | Pulmonary atresia with intact ventricular septum | Enrichment | TPM1 | 2.48 |
| 20 | Myopathy, distal, with anterior tibial onset | Enrichment | DYSF | 2.48 |
| 21 | Congenital myopathy 23 | Enrichment | TPM2 | 2.48 |
| 22 | Congenital myopathy 4b, autosomal recessive | Enrichment | TPM3 | 2.48 |
| 23 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.48 |
| 24 | Bleeding disorder, platelet-type, 25 | Enrichment | TPM4 | 2.48 |
| 25 | Neurodevelopmental disorder with speech impairment and with or without seizures | Enrichment | CACNA1I | 2.48 |
| 26 | Knobloch syndrome 2 | Enrichment | PAK2 | 2.48 |
| 27 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.48 |
| 28 | Alcohol sensitivity, acute | Enrichment | ALDH2 | 2.48 |
| 29 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.48 |
| 30 | Epilepsy, childhood absence 6 | Enrichment | CACNA1H | 2.48 |
| 31 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.48 |
| 32 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.48 |
| 33 | Moyamoya disease 6 with or without achalasia | Enrichment | GUCY1A1 | 2.48 |
| 34 | Long qt syndrome 16 | Enrichment | CALM3 | 2.48 |
| 35 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.48 |
| 36 | Spinocerebellar ataxia 42 | Enrichment | CACNA1G | 2.48 |
| 37 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | Enrichment | CACNA1G | 2.48 |
| 38 | Hyperaldosteronism, familial, type iv | Enrichment | CACNA1H | 2.48 |
| 39 | Moyamoya disease with early-onset achalasia | Enrichment | GUCY1A1 | 2.48 |
| 40 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 | Enrichment | LMOD1 | 2.48 |
| 41 | Long qt syndrome 15 | Enrichment | CALM2 | 2.48 |
| 42 | Conn's syndrome | Enrichment | CACNA1H | 2.48 |
| 43 | Capillary leak syndrome | Enrichment | TLN1 | 2.48 |
| 44 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.48 |
| 45 | Congenital generalized hypercontractile muscle stiffness syndrome | Enrichment | TPM3 | 2.48 |
| 46 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.48 |
| 47 | Congenital myopathy, paradas type | Enrichment | DYSF | 2.48 |
| 48 | Familial hypertrophic cardiomyopathy | Enrichment | CAV3, TPM1 | 2.27 |
| 49 | Aortic aneurysm, familial thoracic 4 | Enrichment | MYH11 | 2.18 |
| 50 | Miyoshi muscular dystrophy 1 | Enrichment | DYSF | 2.18 |
| 51 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 2.18 |
| 52 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.18 |
| 53 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 2.18 |
| 54 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 2.18 |
| 55 | Moyamoya disease 5 | Enrichment | ACTA2 | 2.18 |
| 56 | Long qt syndrome 14 | Enrichment | CALM1 | 2.18 |
| 57 | Amed syndrome, digenic | Enrichment | ALDH2 | 2.18 |
| 58 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | Enrichment | MYH11 | 2.18 |
| 59 | Visceral myopathy 2 | Enrichment | MYH11 | 2.18 |
| 60 | Arthrogryposis, distal, type 1c | Enrichment | MYL11 | 2.18 |
| 61 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 | Enrichment | MYL9 | 2.18 |
| 62 | Qualitative or quantitative defects of caveolin-3 | Enrichment | CAV3 | 2.18 |
| 63 | Intestinal obstruction | Enrichment | ACTG2 | 2.18 |
| 64 | Distal arthrogryposis | Enrichment | MYL11, TPM2 | 2.07 |
| 65 | Rippling muscle disease 2 | Enrichment | CAV3 | 2.00 |
| 66 | Long qt syndrome 9 | Enrichment | CAV3 | 2.00 |
| 67 | Aortic aneurysm, familial thoracic 7 | Enrichment | MYLK | 2.00 |
| 68 | Myopathy, distal, tateyama type | Enrichment | CAV3 | 2.00 |
| 69 | Tricuspid valve insufficiency | Enrichment | MYH11 | 2.00 |
| 70 | Dysferlinopathy | Enrichment | DYSF | 2.00 |
| 71 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.88 |
| 72 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | MYH11 | 1.88 |
| 73 | Knobloch syndrome | Enrichment | PAK2 | 1.88 |
| 74 | Mitral valve insufficiency | Enrichment | MYH11 | 1.88 |
| 75 | Intermediate nemaline myopathy | Enrichment | TPM3 | 1.88 |
| 76 | Familial isolated dilated cardiomyopathy | Enrichment | TPM1, VCL | 1.88 |
| 77 | Arthrogryposis, distal, type 2b1 | Enrichment | TPM2 | 1.78 |
| 78 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.78 |
| 79 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | DYSF | 1.78 |
| 80 | Atrial septal defect 1 | Enrichment | TPM1 | 1.70 |
| 81 | Alcohol dependence | Enrichment | ALDH2 | 1.70 |
| 82 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.70 |
| 83 | Typical nemaline myopathy | Enrichment | TPM2 | 1.70 |
| 84 | Childhood absence epilepsy | Enrichment | CACNA1H | 1.70 |
| 85 | Arthrogryposis, distal, type 1a | Enrichment | TPM2 | 1.58 |
| 86 | Myopathy, tubular aggregate, 1 | Enrichment | CAV3 | 1.58 |
| 87 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.58 |
| 88 | Dilated cardiomyopathy | Enrichment | TPM1, VCL | 1.54 |
| 89 | Primary hyperaldosteronism | Enrichment | CACNA1H | 1.53 |
| 90 | Autosomal dominant macrothrombocytopenia | Enrichment | TPM4 | 1.49 |
| 91 | Epilepsy, idiopathic generalized | Enrichment | CACNA1H | 1.44 |
| 92 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | DYSF | 1.41 |
| 93 | Lung cancer susceptibility 3 | Enrichment | ACTA2 | 1.34 |
| 94 | Myopia | Enrichment | MYH11 | 1.31 |
| 95 | Creatine phosphokinase, elevated serum | Enrichment | CAV3 | 1.29 |
| 96 | Isolated elevated serum creatine phosphokinase levels | Enrichment | CAV3 | 1.29 |
| 97 | Cardiomyopathy, dilated, 1e | Enrichment | TPM1 | 1.26 |
| 98 | Autosomal recessive limb-girdle muscular dystrophy | Enrichment | DYSF | 1.21 |
| 99 | Centronuclear myopathy | Enrichment | TPM3 | 1.17 |
| 100 | Myocardial infarction | Enrichment | GUCY1A1 | 1.15 |
| 101 | Muscular dystrophy | Enrichment | DYSF | 1.12 |
| 102 | Tetralogy of fallot | Enrichment | TPM1 | 1.08 |
| 103 | Lung cancer | Enrichment | ACTA2 | 1.00 |
| 104 | Connective tissue disease | Enrichment | ACTA2 | 1.00 |
| 105 | Left ventricular noncompaction | Enrichment | TPM1 | 0.96 |
| 106 | Myopathy | Enrichment | TPM3 | 0.90 |
| 107 | Hypertrophic cardiomyopathy | Enrichment | TPM1 | 0.88 |
| 108 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CACNA1I | 0.81 |
| 109 | Spastic ataxia | Enrichment | CACNA1G | 0.79 |