| 1 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 6.06 |
| 2 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 5.19 |
| 3 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3 | 4.22 |
| 4 | Periventricular nodular heterotopia | Enrichment | ARF1, FLNA | 3.24 |
| 5 | Patent foramen ovale | Enrichment | ACTC1, FLNA | 3.02 |
| 6 | Hydrops fetalis, nonimmune | Enrichment | ACTA1, HRAS | 2.69 |
| 7 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.59 |
| 8 | Otopalatodigital syndrome, type i | Enrichment | FLNA | 2.59 |
| 9 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked | Enrichment | FLNA | 2.59 |
| 10 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.59 |
| 11 | Cardiac valvular dysplasia 1 | Enrichment | PLD1 | 2.59 |
| 12 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.59 |
| 13 | Hiatt-neu-cooper neurodevelopmental syndrome | Enrichment | RALA | 2.59 |
| 14 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.59 |
| 15 | Terminal osseous dysplasia | Enrichment | FLNA | 2.59 |
| 16 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.59 |
| 17 | Fg syndrome 2 | Enrichment | FLNA | 2.59 |
| 18 | Neurodegeneration with brain iron accumulation 7 | Enrichment | REPS1 | 2.59 |
| 19 | Otopalatodigital syndrome spectrum disorder | Enrichment | FLNA | 2.59 |
| 20 | Becker nevus syndrome | Enrichment | ACTB | 2.59 |
| 21 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.59 |
| 22 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.59 |
| 23 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.59 |
| 24 | Long qt syndrome 16 | Enrichment | CALM3 | 2.59 |
| 25 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.59 |
| 26 | X-linked ehlers-danlos syndrome | Enrichment | FLNA | 2.59 |
| 27 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.59 |
| 28 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.59 |
| 29 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | Enrichment | EXOC6B | 2.59 |
| 30 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.59 |
| 31 | Long qt syndrome 15 | Enrichment | CALM2 | 2.59 |
| 32 | Baraitser-winter syndrome | Enrichment | ACTB | 2.59 |
| 33 | Exoc6b-related spondyloepimetaphyseal dysplasia with joint laxity | Enrichment | EXOC6B | 2.59 |
| 34 | Zebra body myopathy | Enrichment | ACTA1 | 2.59 |
| 35 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.59 |
| 36 | Nocarh syndrome | Enrichment | CDC42 | 2.59 |
| 37 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.59 |
| 38 | X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome | Enrichment | FLNA | 2.59 |
| 39 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.59 |
| 40 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.59 |
| 41 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.59 |
| 42 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.59 |
| 43 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.59 |
| 44 | Long qt syndrome | Enrichment | CALM1, CALM2 | 2.54 |
| 45 | Non-immune hydrops fetalis | Enrichment | ACTA1, HRAS | 2.54 |
| 46 | Costello syndrome | Enrichment | HRAS | 2.29 |
| 47 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | FLNA | 2.29 |
| 48 | Otopalatodigital syndrome, type ii | Enrichment | FLNA | 2.29 |
| 49 | Melnick-needles syndrome | Enrichment | FLNA | 2.29 |
| 50 | Frontometaphyseal dysplasia 1 | Enrichment | FLNA | 2.29 |
| 51 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 2.29 |
| 52 | Cardiomyopathy, dilated, 1r | Enrichment | ACTC1 | 2.29 |
| 53 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.29 |
| 54 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.29 |
| 55 | Cardiomyopathy, familial hypertrophic, 11 | Enrichment | ACTC1 | 2.29 |
| 56 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 2.29 |
| 57 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 2.29 |
| 58 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.29 |
| 59 | Moyamoya disease 5 | Enrichment | ACTA2 | 2.29 |
| 60 | Long qt syndrome 14 | Enrichment | CALM1 | 2.29 |
| 61 | Atrial septal defect 5 | Enrichment | ACTC1 | 2.29 |
| 62 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.29 |
| 63 | Periventricular nodular heterotopia 8 | Enrichment | ARF1 | 2.29 |
| 64 | Cardiac valvular dysplasia, x-linked | Enrichment | FLNA | 2.29 |
| 65 | Intellectual developmental disorder, autosomal dominant 60, with seizures | Enrichment | AP2M1 | 2.29 |
| 66 | Immune system disease | Enrichment | CDC42 | 2.29 |
| 67 | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | Enrichment | EXOC2 | 2.29 |
| 68 | Intestinal obstruction | Enrichment | ACTG2 | 2.29 |
| 69 | Wooly hair nevus | Enrichment | HRAS | 2.29 |
| 70 | Distal arthrogryposis | Enrichment | ACTA1, ACTC1 | 2.28 |
| 71 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2, FLNA | 2.24 |
| 72 | Prune belly syndrome | Enrichment | FLNA | 2.11 |
| 73 | Arterial tortuosity syndrome | Enrichment | FLNA | 2.11 |
| 74 | Periventricular nodular heterotopia 1 | Enrichment | FLNA | 2.11 |
| 75 | Congenital short bowel syndrome | Enrichment | FLNA | 2.11 |
| 76 | Large congenital melanocytic nevus | Enrichment | HRAS | 2.11 |
| 77 | Frontometaphyseal dysplasia | Enrichment | FLNA | 2.11 |
| 78 | Spermatocytoma | Enrichment | HRAS | 2.11 |
| 79 | Aggressive periodontitis | Enrichment | FPR1 | 2.11 |
| 80 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.99 |
| 81 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.99 |
| 82 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2 | 1.99 |
| 83 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.99 |
| 84 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.99 |
| 85 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.99 |
| 86 | Epidermolytic nevus | Enrichment | HRAS | 1.99 |
| 87 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.99 |
| 88 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.99 |
| 89 | Visceral myopathy 1 | Enrichment | ACTG2 | 1.89 |
| 90 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.89 |
| 91 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.89 |
| 92 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.89 |
| 93 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.81 |
| 94 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.81 |
| 95 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 1.81 |
| 96 | Patent ductus arteriosus | Enrichment | FLNA | 1.81 |
| 97 | Typical nemaline myopathy | Enrichment | ACTA1 | 1.81 |
| 98 | Nevus, epidermal | Enrichment | HRAS | 1.75 |
| 99 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.75 |
| 100 | Noonan syndrome 3 | Enrichment | HRAS | 1.75 |
| 101 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.75 |
| 102 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.75 |
| 103 | Dilated cardiomyopathy | Enrichment | ACTA1, ACTC1 | 1.74 |
| 104 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS | 1.69 |
| 105 | Fanconi anemia, complementation group c | Enrichment | FLNA | 1.69 |
| 106 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.69 |
| 107 | Myoclonic-atonic epilepsy | Enrichment | AP2M1 | 1.64 |
| 108 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.64 |
| 109 | Arteriovenous malformation | Enrichment | HRAS | 1.64 |
| 110 | Cat eye syndrome | Enrichment | ACTG1 | 1.59 |
| 111 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS | 1.59 |
| 112 | Neurodegeneration with brain iron accumulation | Enrichment | REPS1 | 1.59 |
| 113 | Nemaline myopathy | Enrichment | ACTA1 | 1.59 |
| 114 | Lung non-small cell carcinoma | Enrichment | HRAS | 1.55 |
| 115 | Lip and oral cavity carcinoma | Enrichment | HRAS | 1.52 |
| 116 | Lung cancer susceptibility 3 | Enrichment | ACTA2 | 1.45 |
| 117 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.42 |
| 118 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS | 1.42 |
| 119 | Microcephaly | Enrichment | ACTB, ACTG1 | 1.40 |
| 120 | Rhabdomyosarcoma | Enrichment | HRAS | 1.39 |
| 121 | Cleft palate, isolated | Enrichment | FLNA | 1.37 |
| 122 | Sudden infant death syndrome | Enrichment | CALM2 | 1.37 |
| 123 | Neuromuscular disease | Enrichment | ACTA1 | 1.34 |
| 124 | Congenital myopathy | Enrichment | ACTA1 | 1.32 |
| 125 | Lissencephaly | Enrichment | ACTG1 | 1.28 |
| 126 | Centronuclear myopathy | Enrichment | ACTA1 | 1.28 |
| 127 | Noonan syndrome 1 | Enrichment | HRAS | 1.24 |
| 128 | Rasopathy | Enrichment | HRAS | 1.19 |
| 129 | Bladder cancer | Enrichment | HRAS | 1.14 |
| 130 | Differentiated thyroid carcinoma | Enrichment | HRAS | 1.14 |
| 131 | Lung cancer | Enrichment | ACTA2 | 1.10 |
| 132 | Connective tissue disease | Enrichment | ACTA2 | 1.10 |
| 133 | Familial hypertrophic cardiomyopathy | Enrichment | ACTC1 | 1.09 |
| 134 | Cakut | Enrichment | ACTG1 | 1.07 |
| 135 | Left ventricular noncompaction | Enrichment | ACTC1 | 1.06 |
| 136 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 1.05 |
| 137 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1 | 1.04 |
| 138 | Myopathy | Enrichment | ACTA1 | 1.01 |
| 139 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.99 |
| 140 | Hypertrophic cardiomyopathy | Enrichment | ACTC1 | 0.98 |
| 141 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.90 |
| 142 | Familial isolated dilated cardiomyopathy | Enrichment | ACTC1 | 0.89 |
| 143 | Myeloma, multiple | Enrichment | AURKA | 0.87 |
| 144 | Rare genetic deafness | Enrichment | ACTG1 | 0.73 |
| 145 | Colorectal cancer | Enrichment | AURKA | 0.69 |
| 146 | Complex neurodevelopmental disorder | Enrichment | RALA | 0.56 |