| 1 | Hypertrophic cardiomyopathy | Enrichment | ACTC1, ACTN2, MYBPC3, MYL2, MYL3, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN | 11.45 |
| 2 | Familial isolated dilated cardiomyopathy | Enrichment | ACTC1, ACTN2, DES, DMD, MYBPC3, MYH6, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN | 11.14 |
| 3 | Familial hypertrophic cardiomyopathy | Enrichment | ACTC1, ACTN2, DES, DMD, MYBPC3, MYL2, MYL3, TCAP, TNNI3, TNNT2, TPM1 | 10.98 |
| 4 | Left ventricular noncompaction | Enrichment | ACTC1, ACTN2, MYBPC3, TNNI3, TNNT2, TPM1, TTN | 10.96 |
| 5 | Dilated cardiomyopathy | Enrichment | ACTA1, ACTC1, ACTN2, DES, DMD, MYBPC3, MYH6, MYL2, TCAP, TNNI3, TNNT2, TPM1, TTN | 10.86 |
| 6 | Arthrogryposis, distal, type 1a | Enrichment | MYBPC1, MYH3, TNNI2, TNNT3, TPM2 | 10.39 |
| 7 | Arthrogryposis, distal, type 2b1 | Enrichment | MYH3, TNNI2, TNNT3, TPM2 | 9.63 |
| 8 | Cardiomyopathy, dilated, 1e | Enrichment | DES, MYL2, TNNC1, TPM1, TTN | 9.24 |
| 9 | Distal arthrogryposis | Enrichment | ACTA1, ACTC1, MYBPC1, MYH3, TNNI2, TPM2 | 8.96 |
| 10 | Childhood-onset nemaline myopathy | Enrichment | ACTA1, NEB, TPM2, TPM3 | 8.83 |
| 11 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | MYBPC3, MYH6, TNNI3, TNNT2, TPM1 | 8.39 |
| 12 | Nemaline myopathy | Enrichment | ACTA1, NEB, TPM2, TPM3 | 8.06 |
| 13 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1, MYL2, TPM2, TPM3 | 7.25 |
| 14 | Intermediate nemaline myopathy | Enrichment | ACTA1, NEB, TPM3 | 7.16 |
| 15 | Typical nemaline myopathy | Enrichment | ACTA1, NEB, TPM2 | 6.47 |
| 16 | Familial isolated restrictive cardiomyopathy | Enrichment | MYL2, TNNI3, TNNT2 | 6.22 |
| 17 | Myocarditis | Enrichment | TNNI3, TNNT2, TTN | 6.02 |
| 18 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | MYBPC3, TNNI3, TNNT2 | 5.85 |
| 19 | Myopathy | Enrichment | ACTA1, DMD, TPM3, TTN | 5.45 |
| 20 | Restrictive cardiomyopathy | Enrichment | TNNI3, TNNT2, TTN | 5.43 |
| 21 | Cardiomyopathy, dilated, 1i | Enrichment | DES, MYBPC3 | 5.16 |
| 22 | Cardiomyopathy, familial hypertrophic, 25 | Enrichment | TCAP, TNNI3 | 5.16 |
| 23 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | ACTN2, DES, MYBPC3 | 5.03 |
| 24 | Sudden infant death syndrome | Enrichment | MYBPC3, TNNI3, TTN | 4.94 |
| 25 | Neuromuscular disease | Enrichment | ACTA1, DES, TTN | 4.87 |
| 26 | Myopathy, myofibrillar, 1 | Enrichment | DES, TTN | 4.69 |
| 27 | Cap myopathy | Enrichment | TPM2, TPM3 | 4.69 |
| 28 | Cardiomyopathy, dilated, 1a | Enrichment | MYBPC3, TNNI3, TTN | 4.66 |
| 29 | Centronuclear myopathy | Enrichment | ACTA1, TPM3, TTN | 4.66 |
| 30 | Muscular dystrophy | Enrichment | DMD, NEB, TTN | 4.48 |
| 31 | Nemaline myopathy 2 | Enrichment | ACTA1, NEB | 4.39 |
| 32 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1, TTN | 4.17 |
| 33 | Severe congenital nemaline myopathy | Enrichment | ACTA1, NEB | 4.17 |
| 34 | Inflammatory myofibroblastic tumor | Enrichment | TPM3, TPM4 | 3.99 |
| 35 | Creatine phosphokinase, elevated serum | Enrichment | DMD, TCAP | 3.10 |
| 36 | Wolff-parkinson-white syndrome | Enrichment | TNNT2, TTN | 3.10 |
| 37 | Isolated elevated serum creatine phosphokinase levels | Enrichment | DMD, TCAP | 3.10 |
| 38 | Patent foramen ovale | Enrichment | ACTC1, MYH6 | 2.99 |
| 39 | Congenital myopathy | Enrichment | ACTA1, TTN | 2.94 |
| 40 | Familial atrial fibrillation | Enrichment | MYL4, TTN | 2.74 |
| 41 | Cardiomyopathy, familial hypertrophic, 2 | Enrichment | TNNT2 | 2.58 |
| 42 | Cardiomyopathy, familial hypertrophic, 3 | Enrichment | TPM1 | 2.58 |
| 43 | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a | Enrichment | MYH3 | 2.58 |
| 44 | Pulmonary atresia with intact ventricular septum | Enrichment | TPM1 | 2.58 |
| 45 | Muscular dystrophy, becker type | Enrichment | DMD | 2.58 |
| 46 | Cardiomyopathy, dilated, 2a | Enrichment | TNNI3 | 2.58 |
| 47 | Cardiomyopathy, familial hypertrophic, 8 | Enrichment | MYL3 | 2.58 |
| 48 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | Enrichment | ACTN2 | 2.58 |
| 49 | Cardiomyopathy, familial restrictive, 3 | Enrichment | TNNT2 | 2.58 |
| 50 | Congenital myopathy 23 | Enrichment | TPM2 | 2.58 |
| 51 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.58 |
| 52 | Cardiomyopathy, familial hypertrophic, 7 | Enrichment | TNNI3 | 2.58 |
| 53 | Left ventricular noncompaction 10 | Enrichment | MYBPC3 | 2.58 |
| 54 | Congenital myopathy 4b, autosomal recessive | Enrichment | TPM3 | 2.58 |
| 55 | Nemaline myopathy 5a, autosomal recessive, severe infantile | Enrichment | TNNT1 | 2.58 |
| 56 | Lethal congenital contracture syndrome 4 | Enrichment | MYBPC1 | 2.58 |
| 57 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.58 |
| 58 | Cardiomyopathy, dilated, 1ee | Enrichment | MYH6 | 2.58 |
| 59 | Sick sinus syndrome 3 | Enrichment | MYH6 | 2.58 |
| 60 | Scapuloperoneal syndrome, neurogenic, kaeser type | Enrichment | DES | 2.58 |
| 61 | Congenital myopathy 16 | Enrichment | MYBPC1 | 2.58 |
| 62 | Muscular dystrophy, limb-girdle, autosomal recessive 7 | Enrichment | TCAP | 2.58 |
| 63 | Bleeding disorder, platelet-type, 25 | Enrichment | TPM4 | 2.58 |
| 64 | Congenital myopathy 8 | Enrichment | ACTN2 | 2.58 |
| 65 | Cardiomyopathy, dilated, 3b | Enrichment | DMD | 2.58 |
| 66 | Atrial fibrillation, familial, 18 | Enrichment | MYL4 | 2.58 |
| 67 | Actn3 deficiency | Enrichment | ACTN3 | 2.58 |
| 68 | Cardiomyopathy, familial hypertrophic, 14 | Enrichment | MYH6 | 2.58 |
| 69 | Autosomal recessive limb-girdle muscular dystrophy type 2g | Enrichment | TCAP | 2.58 |
| 70 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.58 |
| 71 | Cardiomyopathy, dilated, 1z | Enrichment | TNNC1 | 2.58 |
| 72 | Cardiomyopathy, familial hypertrophic, 13 | Enrichment | TNNC1 | 2.58 |
| 73 | Arthrogryposis, distal, type 1b | Enrichment | MYBPC1 | 2.58 |
| 74 | Congenital myopathy 15 | Enrichment | TNNC2 | 2.58 |
| 75 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.58 |
| 76 | Myopathy, distal, 6, adult-onset, autosomal dominant | Enrichment | ACTN2 | 2.58 |
| 77 | Congenital myopathy 14 | Enrichment | MYL1 | 2.58 |
| 78 | Nemaline myopathy 5b, autosomal recessive, childhood-onset | Enrichment | TNNT1 | 2.58 |
| 79 | Arthrogryposis, distal, type 2b2 | Enrichment | TNNT3 | 2.58 |
| 80 | Nemaline myopathy 5a | Enrichment | TNNT1 | 2.58 |
| 81 | Mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome | Enrichment | MYBPC1 | 2.58 |
| 82 | Symptomatic form of muscular dystrophy of duchenne and becker in female carriers | Enrichment | DMD | 2.58 |
| 83 | Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome | Enrichment | TTN | 2.58 |
| 84 | Zebra body myopathy | Enrichment | ACTA1 | 2.58 |
| 85 | Duchenne and becker muscular dystrophy | Enrichment | DMD | 2.58 |
| 86 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.58 |
| 87 | Premature aging | Enrichment | VIM | 2.58 |
| 88 | Congenital generalized hypercontractile muscle stiffness syndrome | Enrichment | TPM3 | 2.58 |
| 89 | Distal nebulin myopathy | Enrichment | NEB | 2.58 |
| 90 | Qualitative or quantitative defects of dystrophin | Enrichment | DMD | 2.58 |
| 91 | Focal segmental glomerulosclerosis 1 | Enrichment | ACTN4 | 2.55 |
| 92 | Liver disease | Enrichment | MYOM1 | 2.55 |
| 93 | Long qt syndrome | Enrichment | MYBPC3, MYH6 | 2.52 |
| 94 | Cardiomyopathy, familial restrictive, 1 | Enrichment | TNNI3 | 2.28 |
| 95 | Arthrogryposis, distal, type 2a | Enrichment | MYH3 | 2.28 |
| 96 | Lethal congenital contracture syndrome 3 | Enrichment | MYBPC1 | 2.28 |
| 97 | Cardiomyopathy, dilated, 1r | Enrichment | ACTC1 | 2.28 |
| 98 | Arthrogryposis, distal, type 7 | Enrichment | MYH8 | 2.28 |
| 99 | Cardiomyopathy, familial hypertrophic, 11 | Enrichment | ACTC1 | 2.28 |
| 100 | Cardiomyopathy, dilated, 1dd | Enrichment | TNNT2 | 2.28 |
| 101 | Cardiomyopathy, dilated, 1ff | Enrichment | TNNI3 | 2.28 |
| 102 | Atrial septal defect 5 | Enrichment | ACTC1 | 2.28 |
| 103 | Arthrogryposis, distal, type 2b3 | Enrichment | MYH3 | 2.28 |
| 104 | Cardiomyopathy, dilated, 1d | Enrichment | TNNT2 | 2.28 |
| 105 | Nemaline myopathy 5c, autosomal dominant | Enrichment | TNNT1 | 2.28 |
| 106 | Atrial septal defect 3 | Enrichment | MYH6 | 2.28 |
| 107 | Progressive familial heart block | Enrichment | DES | 2.28 |
| 108 | Cataract 30 | Enrichment | VIM | 2.28 |
| 109 | Cardiomyopathy, familial hypertrophic, 10 | Enrichment | MYL2 | 2.28 |
| 110 | Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | Enrichment | MYL2 | 2.28 |
| 111 | Inclusion myopathy | Enrichment | TTN | 2.28 |
| 112 | Carney complex - trismus - pseudocamptodactyly syndrome | Enrichment | MYH8 | 2.28 |
| 113 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 2.25 |
| 114 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.25 |
| 115 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 2.25 |
| 116 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 2.25 |
| 117 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.25 |
| 118 | Moyamoya disease 5 | Enrichment | ACTA2 | 2.25 |
| 119 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTG1 | 2.25 |
| 120 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 | Enrichment | MYL9 | 2.25 |
| 121 | Muscular dystrophy, duchenne type | Enrichment | DMD | 2.10 |
| 122 | Spondylocarpotarsal synostosis syndrome | Enrichment | MYH3 | 2.10 |
| 123 | Nonaka myopathy | Enrichment | TTN | 2.10 |
| 124 | Arthrogryposis multiplex congenita 6 | Enrichment | NEB | 2.10 |
| 125 | Intrinsic cardiomyopathy | Enrichment | ACTN2 | 2.10 |
| 126 | Myopathy, centronuclear, 2 | Enrichment | TTN | 1.98 |
| 127 | Carney complex variant | Enrichment | MYH8 | 1.98 |
| 128 | Left ventricular noncompaction 2 | Enrichment | TTN | 1.98 |
| 129 | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b | Enrichment | MYH3 | 1.98 |
| 130 | Familial sick sinus syndrome | Enrichment | MYH6 | 1.98 |
| 131 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.95 |
| 132 | Feingold syndrome 1 | Enrichment | TTN | 1.88 |
| 133 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TTN | 1.88 |
| 134 | Congenital myopathy 1b, autosomal recessive | Enrichment | TTN | 1.88 |
| 135 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TTN | 1.88 |
| 136 | Histiocytoid hemangioma | Enrichment | VIM | 1.88 |
| 137 | Hypoglycemia | Enrichment | MYOM1 | 1.86 |
| 138 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.86 |
| 139 | Atrial septal defect 1 | Enrichment | TPM1 | 1.80 |
| 140 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.78 |
| 141 | Brugada syndrome 1 | Enrichment | MYBPC3 | 1.73 |
| 142 | Third-degree atrioventricular block | Enrichment | TTN | 1.73 |
| 143 | Myofibrillar myopathy | Enrichment | DES | 1.73 |
| 144 | Multiple pterygium syndrome, lethal type | Enrichment | NEB | 1.68 |
| 145 | Orthostatic intolerance | Enrichment | TTN | 1.68 |
| 146 | Congenital muscular dystrophy | Enrichment | TTN | 1.68 |
| 147 | Hypoplastic left heart syndrome | Enrichment | MYH6 | 1.68 |
| 148 | Orofacial cleft 1 | Enrichment | TTN | 1.63 |
| 149 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | TTN | 1.63 |
| 150 | Limb-girdle muscular dystrophy | Enrichment | TTN | 1.63 |
| 151 | Cataract 30, multiple types | Enrichment | VIM | 1.58 |
| 152 | Tibial muscular dystrophy, tardive | Enrichment | TTN | 1.58 |
| 153 | Myopathy, myofibrillar, 9, with early respiratory failure | Enrichment | TTN | 1.58 |
| 154 | Tibial muscular dystrophy | Enrichment | TTN | 1.58 |
| 155 | Autosomal dominant macrothrombocytopenia | Enrichment | TPM4 | 1.58 |
| 156 | Cat eye syndrome | Enrichment | ACTG1 | 1.56 |
| 157 | Pectus excavatum | Enrichment | DMD | 1.54 |
| 158 | Cardiomyopathy, familial hypertrophic, 9 | Enrichment | TTN | 1.54 |
| 159 | Atrial heart septal defect | Enrichment | DMD | 1.54 |
| 160 | Interatrial communication | Enrichment | DMD | 1.54 |
| 161 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TTN | 1.50 |
| 162 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TTN | 1.50 |
| 163 | Congenital myopathy 5 with cardiomyopathy | Enrichment | TTN | 1.47 |
| 164 | Heart disease | Enrichment | MYL2 | 1.44 |
| 165 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TTN | 1.44 |
| 166 | Lung cancer susceptibility 3 | Enrichment | ACTA2 | 1.41 |
| 167 | Beckwith-wiedemann syndrome | Enrichment | DMD | 1.33 |
| 168 | Heart, malformation of | Enrichment | MYH6 | 1.33 |
| 169 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | Enrichment | TTN | 1.31 |
| 170 | Autosomal recessive limb-girdle muscular dystrophy type 2j | Enrichment | TTN | 1.27 |
| 171 | Cardiomyopathy, dilated, 1g | Enrichment | TTN | 1.25 |
| 172 | Lissencephaly | Enrichment | ACTG1 | 1.24 |
| 173 | Tetralogy of fallot | Enrichment | TPM1 | 1.18 |
| 174 | Hydrops fetalis, nonimmune | Enrichment | ACTA1 | 1.18 |
| 175 | Brugada syndrome | Enrichment | MYBPC3 | 1.18 |
| 176 | Non-immune hydrops fetalis | Enrichment | ACTA1 | 1.10 |
| 177 | Lung cancer | Enrichment | ACTA2 | 1.07 |
| 178 | Connective tissue disease | Enrichment | ACTA2 | 1.07 |
| 179 | Fanconi anemia, complementation group a | Enrichment | DMD | 1.05 |
| 180 | Cakut | Enrichment | ACTG1 | 1.04 |
| 181 | Genetic steroid-resistant nephrotic syndrome | Enrichment | ACTN4 | 1.04 |
| 182 | Non-syndromic x-linked intellectual disability | Enrichment | DMD | 1.04 |
| 183 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1 | 1.03 |
| 184 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 1.02 |
| 185 | Cerebral palsy | Enrichment | TTN | 1.01 |
| 186 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.95 |
| 187 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2 | 0.93 |
| 188 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.87 |
| 189 | Schizophrenia | Enrichment | DMD | 0.84 |
| 190 | Autism | Enrichment | DMD | 0.76 |
| 191 | Rare genetic deafness | Enrichment | ACTG1 | 0.70 |
| 192 | Colorectal cancer | Enrichment | DMD | 0.68 |
| 193 | Microcephaly | Enrichment | ACTG1 | 0.53 |