| 1 | Il10-related early-onset inflammatory bowel disease | Enrichment | IL10, TGFB1 | 4.28 |
| 2 | Alzheimer's disease | Enrichment | MPO, TNF | 3.57 |
| 3 | Creatine phosphokinase, elevated serum | Enrichment | CAPN3, DMD | 3.38 |
| 4 | Isolated elevated serum creatine phosphokinase levels | Enrichment | CAPN3, DMD | 3.38 |
| 5 | Muscular dystrophy | Enrichment | CAPN3, DMD | 3.02 |
| 6 | Brugada syndrome | Enrichment | CACNA2D1, CACNB2 | 2.95 |
| 7 | Thyrotoxic periodic paralysis 1 | Enrichment | CACNA1S | 2.72 |
| 8 | Muscular dystrophy, becker type | Enrichment | DMD | 2.72 |
| 9 | Brugada syndrome 4 | Enrichment | CACNB2 | 2.72 |
| 10 | Focal segmental glomerulosclerosis 2 | Enrichment | TRPC6 | 2.72 |
| 11 | Even-plus syndrome | Enrichment | HSPA9 | 2.72 |
| 12 | Anemia, sideroblastic, 4 | Enrichment | HSPA9 | 2.72 |
| 13 | Spinocerebellar ataxia 41 | Enrichment | TRPC3 | 2.72 |
| 14 | Congenital myopathy 18 | Enrichment | CACNA1S | 2.72 |
| 15 | Cardiomyopathy, dilated, 3b | Enrichment | DMD | 2.72 |
| 16 | Graft-versus-host disease | Enrichment | IL10 | 2.72 |
| 17 | Cone-rod dystrophy, x-linked, 3 | Enrichment | CACNA1F | 2.72 |
| 18 | Immunodeficiency 10 | Enrichment | STIM1 | 2.72 |
| 19 | Malignant hyperthermia 5 | Enrichment | CACNA1S | 2.72 |
| 20 | Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder | Enrichment | PLA2G4A | 2.72 |
| 21 | Developmental and epileptic encephalopathy 110 | Enrichment | CACNA2D1 | 2.72 |
| 22 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets | Enrichment | PLA2G4A | 2.72 |
| 23 | Symptomatic form of muscular dystrophy of duchenne and becker in female carriers | Enrichment | DMD | 2.72 |
| 24 | Progressive muscular atrophy | Enrichment | CAPN3 | 2.72 |
| 25 | Duchenne and becker muscular dystrophy | Enrichment | DMD | 2.72 |
| 26 | Cryptogenic multifocal ulcerous stenosing enteritis | Enrichment | PLA2G4A | 2.72 |
| 27 | Qualitative or quantitative defects of calpain | Enrichment | CAPN3 | 2.72 |
| 28 | Periodic paralysis with transient compartment-like syndrome | Enrichment | CACNA1S | 2.72 |
| 29 | Qualitative or quantitative defects of dystrophin | Enrichment | DMD | 2.72 |
| 30 | Systemic lupus erythematosus | Enrichment | IL10, TNF | 2.60 |
| 31 | Myopathy | Enrichment | CAPN3, DMD | 2.58 |
| 32 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 2.42 |
| 33 | Cyclic neutropenia | Enrichment | ELANE | 2.42 |
| 34 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.42 |
| 35 | Neutropenia, severe congenital, x-linked | Enrichment | ELANE | 2.42 |
| 36 | Stormorken syndrome | Enrichment | STIM1 | 2.42 |
| 37 | Night blindness, congenital stationary, type 2a | Enrichment | CACNA1F | 2.42 |
| 38 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.42 |
| 39 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.42 |
| 40 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.42 |
| 41 | Immunodeficiency 127 | Enrichment | TNF | 2.42 |
| 42 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.42 |
| 43 | Ectodermal dysplasia and immune deficiency | Enrichment | NFKBIA | 2.42 |
| 44 | Autosomal recessive sideroblastic anemia | Enrichment | HSPA9 | 2.42 |
| 45 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.42 |
| 46 | Neutropenia, severe congenital, 1, autosomal dominant | Enrichment | ELANE | 2.24 |
| 47 | Gillespie syndrome | Enrichment | ITPR1 | 2.24 |
| 48 | Muscular dystrophy, duchenne type | Enrichment | DMD | 2.24 |
| 49 | Psoriatic arthritis | Enrichment | TNF | 2.24 |
| 50 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 2.24 |
| 51 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | Enrichment | CAPN3 | 2.24 |
| 52 | Autosomal recessive limb-girdle muscular dystrophy type 2a | Enrichment | CAPN3 | 2.24 |
| 53 | Migraine without aura | Enrichment | TNF | 2.24 |
| 54 | Thyrotoxic periodic paralysis | Enrichment | CACNA1S | 2.24 |
| 55 | Kaposi sarcoma | Enrichment | IL6 | 2.12 |
| 56 | Myeloperoxidase deficiency | Enrichment | MPO | 2.12 |
| 57 | Aland island eye disease | Enrichment | CACNA1F | 2.12 |
| 58 | Myopathy, autophagic vacuolar, infantile-onset | Enrichment | STIM1 | 2.12 |
| 59 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 2.12 |
| 60 | Malignant hyperthermia | Enrichment | CACNA1S | 2.12 |
| 61 | Cerebral malaria | Enrichment | TNF | 2.12 |
| 62 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 2.12 |
| 63 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 2.02 |
| 64 | Amblyopia | Enrichment | CACNA1F | 2.02 |
| 65 | Cardiac arrest | Enrichment | CACNA2D1 | 2.02 |
| 66 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | CAPN3 | 2.02 |
| 67 | Vascular dementia | Enrichment | TNF | 2.02 |
| 68 | Autosomal dominant severe congenital neutropenia | Enrichment | ELANE | 2.02 |
| 69 | Congenital short qt syndrome | Enrichment | CACNA2D1 | 2.02 |
| 70 | Hypokalemic periodic paralysis, type 1 | Enrichment | CACNA1S | 1.94 |
| 71 | Muscular dystrophy, limb-girdle, autosomal recessive 1 | Enrichment | CAPN3 | 1.94 |
| 72 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.94 |
| 73 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.94 |
| 74 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 1.94 |
| 75 | Brugada syndrome 1 | Enrichment | CACNA2D1 | 1.87 |
| 76 | Neutropenia | Enrichment | ELANE | 1.87 |
| 77 | Alzheimer's disease 1 | Enrichment | MPO | 1.87 |
| 78 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.87 |
| 79 | Myopathy, tubular aggregate, 1 | Enrichment | STIM1 | 1.82 |
| 80 | Congenital muscular dystrophy | Enrichment | CAPN3 | 1.82 |
| 81 | Rheumatoid arthritis | Enrichment | IL10 | 1.77 |
| 82 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.77 |
| 83 | Limb-girdle muscular dystrophy | Enrichment | CAPN3 | 1.77 |
| 84 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.72 |
| 85 | Migraine with or without aura 1 | Enrichment | CAPN3 | 1.68 |
| 86 | Pectus excavatum | Enrichment | DMD | 1.68 |
| 87 | Asthma | Enrichment | TNF | 1.68 |
| 88 | Atrial heart septal defect | Enrichment | DMD | 1.68 |
| 89 | Interatrial communication | Enrichment | DMD | 1.68 |
| 90 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | CAPN3 | 1.64 |
| 91 | Multiple sclerosis | Enrichment | ITPR1 | 1.58 |
| 92 | Cone-rod dystrophy 6 | Enrichment | CACNA1F | 1.58 |
| 93 | Myopia | Enrichment | CACNA1F | 1.55 |
| 94 | Anterior segment dysgenesis | Enrichment | ITPR1 | 1.55 |
| 95 | Gliosarcoma | Enrichment | NFKBIA | 1.52 |
| 96 | Alzheimer disease, familial, 1 | Enrichment | MPO | 1.49 |
| 97 | Giant cell glioblastoma | Enrichment | NFKBIA | 1.49 |
| 98 | Beckwith-wiedemann syndrome | Enrichment | DMD | 1.47 |
| 99 | Human immunodeficiency virus type 1 | Enrichment | IL10 | 1.47 |
| 100 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.45 |
| 101 | Behcet syndrome | Enrichment | IL10 | 1.45 |
| 102 | Congenital myopathy | Enrichment | CACNA1S | 1.45 |
| 103 | Autosomal recessive limb-girdle muscular dystrophy | Enrichment | CAPN3 | 1.45 |
| 104 | Focal segmental glomerulosclerosis | Enrichment | TRPC6 | 1.42 |
| 105 | Centronuclear myopathy | Enrichment | CACNA1S | 1.40 |
| 106 | Malaria | Enrichment | TNF | 1.36 |
| 107 | Congenital stationary night blindness | Enrichment | CACNA1F | 1.36 |
| 108 | Autoinflammatory disease | Enrichment | ELANE | 1.35 |
| 109 | Long qt syndrome | Enrichment | CACNA1S | 1.24 |
| 110 | Cystic fibrosis | Enrichment | TGFB1 | 1.22 |
| 111 | Familial hypertrophic cardiomyopathy | Enrichment | DMD | 1.21 |
| 112 | Genetic steroid-resistant nephrotic syndrome | Enrichment | TRPC6 | 1.20 |
| 113 | Fanconi anemia, complementation group a | Enrichment | DMD | 1.19 |
| 114 | Eye disease | Enrichment | CACNA1F | 1.19 |
| 115 | Non-syndromic x-linked intellectual disability | Enrichment | DMD | 1.18 |
| 116 | Type 2 diabetes mellitus | Enrichment | IL6 | 1.11 |
| 117 | Nephrotic syndrome | Enrichment | TRPC6 | 1.10 |
| 118 | Optic atrophy plus syndrome | Enrichment | CACNA1F | 1.09 |
| 119 | Spastic ataxia | Enrichment | ITPR1 | 1.01 |
| 120 | Familial isolated dilated cardiomyopathy | Enrichment | DMD | 1.01 |
| 121 | Undetermined early-onset epileptic encephalopathy | Enrichment | CACNA2D1 | 0.99 |
| 122 | Schizophrenia | Enrichment | DMD | 0.97 |
| 123 | Cone-rod dystrophy 2 | Enrichment | CACNA1F | 0.91 |
| 124 | Autism | Enrichment | DMD | 0.89 |
| 125 | Breast cancer | Enrichment | CACNA2D1 | 0.87 |
| 126 | Dilated cardiomyopathy | Enrichment | DMD | 0.85 |
| 127 | Colorectal cancer | Enrichment | DMD | 0.81 |
| 128 | Retinitis pigmentosa | Enrichment | CACNA1F | 0.47 |
| 129 | Hereditary retinal dystrophy | Enrichment | CACNA1F | 0.37 |
| 130 | Fundus dystrophy | Enrichment | CACNA1F | 0.37 |