| 1 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.91 |
| 2 | Human immunodeficiency virus type 1 | Enrichment | CCL2, CCR2, IFNG | 4.49 |
| 3 | Behcet syndrome | Enrichment | IL12A, TLR4 | 2.70 |
| 4 | Malaria | Enrichment | NOS2, TNF | 2.53 |
| 5 | Leprosy 3 | Enrichment | TLR2 | 2.45 |
| 6 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.45 |
| 7 | Systemic lupus erythematosus 6 | Enrichment | ITGAM | 2.45 |
| 8 | Angioedema, hereditary, 3 | Enrichment | F12 | 2.45 |
| 9 | Prekallikrein deficiency | Enrichment | KLKB1 | 2.45 |
| 10 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.45 |
| 11 | Polycystic lung disease | Enrichment | CCR2 | 2.45 |
| 12 | Amelogenesis imperfecta, hypomaturation type, iia1 | Enrichment | KLK4 | 2.45 |
| 13 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.45 |
| 14 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.45 |
| 15 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.45 |
| 16 | Immunodeficiency 69 | Enrichment | IFNG | 2.45 |
| 17 | Short syndrome | Enrichment | PIK3R1 | 2.45 |
| 18 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.45 |
| 19 | Becker nevus syndrome | Enrichment | ACTB | 2.45 |
| 20 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.45 |
| 21 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.45 |
| 22 | Surfactant metabolism dysfunction, pulmonary, 5 | Enrichment | CSF2RB | 2.45 |
| 23 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.45 |
| 24 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.45 |
| 25 | Immunodeficiency 29 | Enrichment | IL12B | 2.45 |
| 26 | Nasopharyngeal carcinoma 3 | Enrichment | MST1R | 2.45 |
| 27 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.45 |
| 28 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.45 |
| 29 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 2.45 |
| 30 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.45 |
| 31 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.45 |
| 32 | Baraitser-winter syndrome | Enrichment | ACTB | 2.45 |
| 33 | Ichthyosis with erythrokeratoderma | Enrichment | KLK11 | 2.45 |
| 34 | Amelogenesis imperfecta type 2a1 | Enrichment | KLK4 | 2.45 |
| 35 | Zebra body myopathy | Enrichment | ACTA1 | 2.45 |
| 36 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.45 |
| 37 | Urticaria | Enrichment | F12 | 2.45 |
| 38 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.45 |
| 39 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.45 |
| 40 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.45 |
| 41 | F12-associated cold autoinflammatory syndrome | Enrichment | F12 | 2.45 |
| 42 | Inherited prekallikrein deficiency | Enrichment | KLKB1 | 2.45 |
| 43 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.45 |
| 44 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 2.15 |
| 45 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 2.15 |
| 46 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 2.15 |
| 47 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.15 |
| 48 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 2.15 |
| 49 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 2.15 |
| 50 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 2.15 |
| 51 | Kallikrein, decreased urinary activity of | Enrichment | KLK1 | 2.15 |
| 52 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.15 |
| 53 | Factor xii deficiency | Enrichment | F12 | 2.15 |
| 54 | Moyamoya disease 5 | Enrichment | ACTA2 | 2.15 |
| 55 | Thrombocythemia 3 | Enrichment | JAK2 | 2.15 |
| 56 | Immunodeficiency 127 | Enrichment | TNF | 2.15 |
| 57 | Factor xi deficiency | Enrichment | F11 | 2.15 |
| 58 | Hereditary angioedema | Enrichment | F12 | 2.15 |
| 59 | Polycythemia | Enrichment | JAK2 | 2.15 |
| 60 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.15 |
| 61 | Angioedema | Enrichment | F12 | 2.15 |
| 62 | Intestinal obstruction | Enrichment | ACTG2 | 2.15 |
| 63 | Systemic lupus erythematosus | Enrichment | ITGAM, TNF | 2.08 |
| 64 | Angioedema, hereditary, 1 | Enrichment | F12 | 1.98 |
| 65 | Factor x deficiency | Enrichment | F11 | 1.98 |
| 66 | Takayasu arteritis | Enrichment | IL12B | 1.98 |
| 67 | Polycythemia vera | Enrichment | JAK2 | 1.98 |
| 68 | Tuberous sclerosis 1 | Enrichment | IFNG | 1.98 |
| 69 | Psoriatic arthritis | Enrichment | TNF | 1.98 |
| 70 | Hepatitis c virus | Enrichment | IFNG | 1.98 |
| 71 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.98 |
| 72 | Tuberous sclerosis 2 | Enrichment | IFNG | 1.98 |
| 73 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.98 |
| 74 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2 | 1.98 |
| 75 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.98 |
| 76 | Migraine without aura | Enrichment | TNF | 1.98 |
| 77 | Congenital factor x deficiency | Enrichment | F11 | 1.98 |
| 78 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.85 |
| 79 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.85 |
| 80 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2 | 1.85 |
| 81 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.85 |
| 82 | Budd-chiari syndrome | Enrichment | JAK2 | 1.85 |
| 83 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3R2 | 1.85 |
| 84 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.85 |
| 85 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.85 |
| 86 | Cerebral malaria | Enrichment | TNF | 1.85 |
| 87 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.85 |
| 88 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.85 |
| 89 | Myeloma, multiple | Enrichment | MST1R, PIK3R2 | 1.78 |
| 90 | Visceral myopathy 1 | Enrichment | ACTG2 | 1.76 |
| 91 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.76 |
| 92 | Cholangitis, primary sclerosing | Enrichment | MST1 | 1.76 |
| 93 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.76 |
| 94 | Vascular dementia | Enrichment | TNF | 1.76 |
| 95 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.76 |
| 96 | Hereditary pulmonary alveolar proteinosis | Enrichment | CSF2RB | 1.76 |
| 97 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.76 |
| 98 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.76 |
| 99 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.68 |
| 100 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 1.68 |
| 101 | Typical nemaline myopathy | Enrichment | ACTA1 | 1.68 |
| 102 | Myelofibrosis | Enrichment | JAK2 | 1.61 |
| 103 | Essential thrombocythemia | Enrichment | JAK2 | 1.61 |
| 104 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.61 |
| 105 | Amelogenesis imperfecta type 2 | Enrichment | KLK4 | 1.61 |
| 106 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.61 |
| 107 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.50 |
| 108 | Primary biliary cholangitis | Enrichment | IL12A | 1.50 |
| 109 | Cat eye syndrome | Enrichment | ACTG1 | 1.46 |
| 110 | Aplastic anemia | Enrichment | IFNG | 1.46 |
| 111 | Nemaline myopathy | Enrichment | ACTA1 | 1.46 |
| 112 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.46 |
| 113 | Colorectal cancer | Enrichment | PIK3R1, TLR2 | 1.42 |
| 114 | Asthma | Enrichment | TNF | 1.42 |
| 115 | Bilirubin metabolic disorder | Enrichment | F12 | 1.42 |
| 116 | Alzheimer's disease | Enrichment | TNF | 1.35 |
| 117 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.35 |
| 118 | Amelogenesis imperfecta | Enrichment | KLK4 | 1.35 |
| 119 | Lung cancer susceptibility 3 | Enrichment | ACTA2 | 1.31 |
| 120 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.29 |
| 121 | Hypertension | Enrichment | F12 | 1.26 |
| 122 | Neuromuscular disease | Enrichment | ACTA1 | 1.21 |
| 123 | Congenital myopathy | Enrichment | ACTA1 | 1.19 |
| 124 | Microcephaly | Enrichment | ACTB, ACTG1 | 1.15 |
| 125 | Lissencephaly | Enrichment | ACTG1 | 1.14 |
| 126 | Centronuclear myopathy | Enrichment | ACTA1 | 1.14 |
| 127 | Hydrops fetalis, nonimmune | Enrichment | ACTA1 | 1.05 |
| 128 | Non-immune hydrops fetalis | Enrichment | ACTA1 | 0.98 |
| 129 | Lung cancer | Enrichment | ACTA2 | 0.97 |
| 130 | Connective tissue disease | Enrichment | ACTA2 | 0.97 |
| 131 | Cakut | Enrichment | ACTG1 | 0.94 |
| 132 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.92 |
| 133 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1 | 0.91 |
| 134 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.88 |
| 135 | Myopathy | Enrichment | ACTA1 | 0.88 |
| 136 | Distal arthrogryposis | Enrichment | ACTA1 | 0.86 |
| 137 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.86 |
| 138 | Gastric cancer | Enrichment | IL1B | 0.85 |
| 139 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2 | 0.84 |
| 140 | Thrombocytopenia | Enrichment | F11 | 0.80 |
| 141 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.77 |
| 142 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.72 |
| 143 | Rare genetic deafness | Enrichment | ACTG1 | 0.61 |
| 144 | Dilated cardiomyopathy | Enrichment | ACTA1 | 0.61 |