| 1 | Human immunodeficiency virus type 1 | Enrichment | CCR5, IFNG, IL10, TLR3 | 5.60 |
| 2 | Autosomal recessive limb-girdle muscular dystrophy | Enrichment | SGCA, SGCB, SGCD, SGCG | 5.50 |
| 3 | Dilated cardiomyopathy | Enrichment | DMD, LAMA2, MYH6, SGCB, SGCD | 4.10 |
| 4 | Creatine phosphokinase, elevated serum | Enrichment | DAG1, DMD, LAMA2 | 4.06 |
| 5 | Isolated elevated serum creatine phosphokinase levels | Enrichment | DAG1, DMD, LAMA2 | 4.06 |
| 6 | Hepatitis c virus | Enrichment | CCR5, IFNG | 4.04 |
| 7 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, STAT3 | 4.04 |
| 8 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1, BAX | 4.04 |
| 9 | Colorectal cancer | Enrichment | AKT1, BAX, CCND1, DMD, PIK3R1 | 3.93 |
| 10 | Behcet syndrome | Enrichment | IL10, IL12A, TLR4 | 3.83 |
| 11 | Muscular dystrophy | Enrichment | DMD, SGCA, SGCD | 3.52 |
| 12 | Il10-related early-onset inflammatory bowel disease | Enrichment | IL10, TGFB1 | 3.35 |
| 13 | Common variable immunodeficiency | Enrichment | CD40LG, NFKB2 | 3.21 |
| 14 | Familial isolated dilated cardiomyopathy | Enrichment | DMD, MYH6, SGCD | 2.51 |
| 15 | Heart, malformation of | Enrichment | MAPK1, MYH6 | 2.36 |
| 16 | Diffuse large b-cell lymphoma | Enrichment | SOCS1, STAT3 | 2.31 |
| 17 | Proteus syndrome | Enrichment | AKT1 | 2.26 |
| 18 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.26 |
| 19 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.26 |
| 20 | Muscular dystrophy, limb-girdle, autosomal recessive 6 | Enrichment | SGCD | 2.26 |
| 21 | Legionnaire disease | Enrichment | TLR5 | 2.26 |
| 22 | Muscular dystrophy, becker type | Enrichment | DMD | 2.26 |
| 23 | Noonan syndrome 4 | Enrichment | SOS1 | 2.26 |
| 24 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.26 |
| 25 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 2.26 |
| 26 | Immunodeficiency 83 viral infections | Enrichment | TLR3 | 2.26 |
| 27 | Parkinson disease 18, autosomal dominant | Enrichment | EIF4G1 | 2.26 |
| 28 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | Enrichment | CD55 | 2.26 |
| 29 | Muscular dystrophy-dystroglycanopathy , type a, 9 | Enrichment | DAG1 | 2.26 |
| 30 | Blood group, cromer system | Enrichment | CD55 | 2.26 |
| 31 | Cardiomyopathy, dilated, 1ee | Enrichment | MYH6 | 2.26 |
| 32 | Sick sinus syndrome 3 | Enrichment | MYH6 | 2.26 |
| 33 | Whim syndrome 1 | Enrichment | CXCR4 | 2.26 |
| 34 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.26 |
| 35 | Muscular dystrophy, limb-girdle, autosomal recessive 5 | Enrichment | SGCG | 2.26 |
| 36 | Auriculocondylar syndrome 3 | Enrichment | EDN1 | 2.26 |
| 37 | Immunodeficiency 69 | Enrichment | IFNG | 2.26 |
| 38 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.26 |
| 39 | Immunodeficiency with hyper-igm, type 1 | Enrichment | CD40LG | 2.26 |
| 40 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 2.26 |
| 41 | Short syndrome | Enrichment | PIK3R1 | 2.26 |
| 42 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.26 |
| 43 | Okt4 epitope deficiency | Enrichment | CD4 | 2.26 |
| 44 | Cardiomyopathy, dilated, 3b | Enrichment | DMD | 2.26 |
| 45 | Cardiomyopathy, dilated, 1l | Enrichment | SGCD | 2.26 |
| 46 | Systemic lupus erythematosus 1 | Enrichment | TLR5 | 2.26 |
| 47 | Graft-versus-host disease | Enrichment | IL10 | 2.26 |
| 48 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 2.26 |
| 49 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.26 |
| 50 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.26 |
| 51 | Thrombocytopenia 4 | Enrichment | CYCS | 2.26 |
| 52 | Question mark ears, isolated | Enrichment | EDN1 | 2.26 |
| 53 | Becker nevus syndrome | Enrichment | ACTB | 2.26 |
| 54 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.26 |
| 55 | Cardiomyopathy, familial hypertrophic, 14 | Enrichment | MYH6 | 2.26 |
| 56 | Autosomal recessive limb-girdle muscular dystrophy type 2c | Enrichment | SGCG | 2.26 |
| 57 | Immunodeficiency 31a | Enrichment | STAT1 | 2.26 |
| 58 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.26 |
| 59 | Immunodeficiency 29 | Enrichment | IL12B | 2.26 |
| 60 | Cowden syndrome 6 | Enrichment | AKT1 | 2.26 |
| 61 | Melioidosis | Enrichment | TLR5 | 2.26 |
| 62 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.26 |
| 63 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 2.26 |
| 64 | Immunodeficiency 31b | Enrichment | STAT1 | 2.26 |
| 65 | Muscular dystrophy-dystroglycanopathy , type c, 9 | Enrichment | DAG1 | 2.26 |
| 66 | Type 1 diabetes mellitus 22 | Enrichment | CCR5 | 2.26 |
| 67 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.26 |
| 68 | Autosomal recessive limb-girdle muscular dystrophy type 2f | Enrichment | SGCD | 2.26 |
| 69 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.26 |
| 70 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.26 |
| 71 | Immunodeficiency 79 | Enrichment | CD4 | 2.26 |
| 72 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 2.26 |
| 73 | Baraitser-winter syndrome | Enrichment | ACTB | 2.26 |
| 74 | Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly | Enrichment | CASP2 | 2.26 |
| 75 | Immunodeficiency 126 | Enrichment | PTCRA | 2.26 |
| 76 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.26 |
| 77 | Symptomatic form of muscular dystrophy of duchenne and becker in female carriers | Enrichment | DMD | 2.26 |
| 78 | Qualitative or quantitative defects of sarcoglycan | Enrichment | SGCA | 2.26 |
| 79 | Cd40 ligand deficiency | Enrichment | CD40LG | 2.26 |
| 80 | Gorham's disease | Enrichment | RASA1 | 2.26 |
| 81 | Protein-losing enteropathy | Enrichment | CD55 | 2.26 |
| 82 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 2.26 |
| 83 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.26 |
| 84 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 2.26 |
| 85 | Duchenne and becker muscular dystrophy | Enrichment | DMD | 2.26 |
| 86 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.26 |
| 87 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | Enrichment | DAG1 | 2.26 |
| 88 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.26 |
| 89 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.26 |
| 90 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 2.26 |
| 91 | Qualitative or quantitative defects of dystrophin | Enrichment | DMD | 2.26 |
| 92 | Laminin subunit alpha 2-related muscular dystrophy | Enrichment | LAMA2 | 2.26 |
| 93 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 1.96 |
| 94 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.96 |
| 95 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.96 |
| 96 | West nile virus | Enrichment | CCR5 | 1.96 |
| 97 | Pulmonic stenosis | Enrichment | SOS1 | 1.96 |
| 98 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.96 |
| 99 | Muscular dystrophy, limb-girdle, autosomal recessive 4 | Enrichment | SGCB | 1.96 |
| 100 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 1.96 |
| 101 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | Enrichment | SGCA | 1.96 |
| 102 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 1.96 |
| 103 | Immunodeficiency 31c | Enrichment | STAT1 | 1.96 |
| 104 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 1.96 |
| 105 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.96 |
| 106 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 1.96 |
| 107 | Atrial septal defect 3 | Enrichment | MYH6 | 1.96 |
| 108 | Autosomal recessive limb-girdle muscular dystrophy type 2d | Enrichment | SGCA | 1.96 |
| 109 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.96 |
| 110 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 1.96 |
| 111 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 1.96 |
| 112 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB | 1.96 |
| 113 | Metaphyseal anadysplasia | Enrichment | MMP9 | 1.96 |
| 114 | Qualitative or quantitative defects of beta-sarcoglycan | Enrichment | SGCB | 1.96 |
| 115 | Glycoproteinosis | Enrichment | SGCB | 1.96 |
| 116 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.78 |
| 117 | Immune thrombocytopenia | Enrichment | SOCS1 | 1.78 |
| 118 | Takayasu arteritis | Enrichment | IL12B | 1.78 |
| 119 | Tuberous sclerosis 1 | Enrichment | IFNG | 1.78 |
| 120 | Nuchal bleb, familial | Enrichment | SOS1 | 1.78 |
| 121 | Muscular dystrophy, duchenne type | Enrichment | DMD | 1.78 |
| 122 | Muscular dystrophy, congenital merosin-deficient, 1a | Enrichment | LAMA2 | 1.78 |
| 123 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.78 |
| 124 | Tuberous sclerosis 2 | Enrichment | IFNG | 1.78 |
| 125 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.78 |
| 126 | Autoinflammatory syndrome, familial, with or without immunodeficiency | Enrichment | SOCS1 | 1.78 |
| 127 | Hyper ige syndrome | Enrichment | STAT3 | 1.78 |
| 128 | Wieacker-wolff syndrome | Enrichment | RASA1 | 1.78 |
| 129 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 1.78 |
| 130 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.78 |
| 131 | Cryptogenic cirrhosis | Enrichment | KRT8 | 1.78 |
| 132 | Melanoma of soft tissue | Enrichment | CREB1 | 1.78 |
| 133 | Lama2-related muscular dystrophy | Enrichment | LAMA2 | 1.78 |
| 134 | Systemic lupus erythematosus | Enrichment | IL10, SOCS1 | 1.71 |
| 135 | Kaposi sarcoma | Enrichment | IL6 | 1.66 |
| 136 | Anemia, autoimmune hemolytic | Enrichment | SOCS1 | 1.66 |
| 137 | Auriculocondylar syndrome 1 | Enrichment | EDN1 | 1.66 |
| 138 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.66 |
| 139 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.66 |
| 140 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.66 |
| 141 | Mantle cell lymphoma | Enrichment | CCND1 | 1.66 |
| 142 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 1.66 |
| 143 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.66 |
| 144 | Gingival fibromatosis | Enrichment | SOS1 | 1.66 |
| 145 | Familial sick sinus syndrome | Enrichment | MYH6 | 1.66 |
| 146 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.66 |
| 147 | Capillary malformations, congenital | Enrichment | RASA1 | 1.56 |
| 148 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.56 |
| 149 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.56 |
| 150 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | LAMA2 | 1.56 |
| 151 | Follicular lymphoma | Enrichment | BCL2 | 1.56 |
| 152 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 1.56 |
| 153 | Herpes simplex virus encephalitis | Enrichment | TLR3 | 1.56 |
| 154 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1 | 1.56 |
| 155 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.56 |
| 156 | Microcephaly | Enrichment | ABL1, ACTB, MAPK1 | 1.51 |
| 157 | Klippel-trenaunay-weber syndrome | Enrichment | RASA1 | 1.49 |
| 158 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.49 |
| 159 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.49 |
| 160 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.49 |
| 161 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.49 |
| 162 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.49 |
| 163 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.49 |
| 164 | Limited scleroderma | Enrichment | CAV1 | 1.49 |
| 165 | Breast adenocarcinoma | Enrichment | AKT1 | 1.49 |
| 166 | Capillary malformation-arteriovenous malformation 1 | Enrichment | RASA1 | 1.42 |
| 167 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.42 |
| 168 | Noonan syndrome 3 | Enrichment | SOS1 | 1.42 |
| 169 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.42 |
| 170 | Congenital hydrocephalus | Enrichment | SGCD | 1.42 |
| 171 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.42 |
| 172 | Moyamoya angiopathy | Enrichment | ABL1 | 1.42 |
| 173 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1 | 1.42 |
| 174 | Congenital muscular dystrophy | Enrichment | LAMA2 | 1.36 |
| 175 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.36 |
| 176 | Hypoplastic left heart syndrome | Enrichment | MYH6 | 1.36 |
| 177 | Rheumatoid arthritis | Enrichment | IL10 | 1.31 |
| 178 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.31 |
| 179 | Arteriovenous malformation | Enrichment | RASA1 | 1.31 |
| 180 | Primary biliary cholangitis | Enrichment | IL12A | 1.31 |
| 181 | Cowden syndrome | Enrichment | AKT1 | 1.31 |
| 182 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.27 |
| 183 | Myopathy, x-linked, with excessive autophagy | Enrichment | RASA1 | 1.27 |
| 184 | Aplastic anemia | Enrichment | IFNG | 1.27 |
| 185 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.27 |
| 186 | Pectus excavatum | Enrichment | DMD | 1.23 |
| 187 | Atrial heart septal defect | Enrichment | DMD | 1.23 |
| 188 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.23 |
| 189 | Interatrial communication | Enrichment | DMD | 1.23 |
| 190 | Specific learning disability | Enrichment | MAPK1 | 1.23 |
| 191 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | SGCB | 1.19 |
| 192 | Meningioma | Enrichment | AKT1 | 1.19 |
| 193 | Lip and oral cavity carcinoma | Enrichment | ABL1 | 1.19 |
| 194 | Breast cancer | Enrichment | AKT1, IL2 | 1.19 |
| 195 | Aortic valve disease 1 | Enrichment | SOS1 | 1.16 |
| 196 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.16 |
| 197 | Walker-warburg syndrome | Enrichment | DAG1 | 1.13 |
| 198 | Heart disease | Enrichment | ABL1 | 1.13 |
| 199 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.13 |
| 200 | Noonan syndrome and noonan-related syndrome | Enrichment | SOS1 | 1.10 |
| 201 | Beckwith-wiedemann syndrome | Enrichment | DMD | 1.02 |
| 202 | Neuromuscular disease | Enrichment | SGCD | 1.02 |
| 203 | Patent foramen ovale | Enrichment | MYH6 | 1.02 |
| 204 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.00 |
| 205 | Multisystem inflammatory syndrome in children | Enrichment | TLR3 | 0.94 |
| 206 | Noonan syndrome 1 | Enrichment | SOS1 | 0.92 |
| 207 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 0.92 |
| 208 | Parkinson disease, late-onset | Enrichment | EIF4G1 | 0.90 |
| 209 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | MYH6 | 0.90 |
| 210 | Rasopathy | Enrichment | SOS1 | 0.87 |
| 211 | Long qt syndrome | Enrichment | MYH6 | 0.80 |
| 212 | Cystic fibrosis | Enrichment | TGFB1 | 0.79 |
| 213 | Familial hypertrophic cardiomyopathy | Enrichment | DMD | 0.78 |
| 214 | Fanconi anemia, complementation group a | Enrichment | DMD | 0.75 |
| 215 | Non-syndromic x-linked intellectual disability | Enrichment | DMD | 0.74 |
| 216 | Myopathy | Enrichment | DMD | 0.70 |
| 217 | Charcot-marie-tooth disease | Enrichment | LAMA2 | 0.69 |
| 218 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.68 |
| 219 | Hereditary breast carcinoma | Enrichment | AKT1 | 0.66 |
| 220 | Thrombocytopenia | Enrichment | CYCS | 0.63 |
| 221 | Myeloma, multiple | Enrichment | CCND1 | 0.57 |
| 222 | Schizophrenia | Enrichment | DMD | 0.55 |
| 223 | Autism | Enrichment | DMD | 0.48 |
| 224 | Ovarian cancer | Enrichment | AKT1 | 0.37 |
| 225 | Complex neurodevelopmental disorder | Enrichment | RAC3 | 0.30 |