| 1 | Human immunodeficiency virus type 1 | Enrichment | CD209, CX3CR1, IFNG, IL10 | 5.63 |
| 2 | Immunodeficiency 104, severe combined | Enrichment | IL7R, PTPRC | 4.53 |
| 3 | Systemic lupus erythematosus | Enrichment | IL10, ITGAM, TLR7, TNF | 4.24 |
| 4 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | FLT3, KIT | 3.76 |
| 5 | Acute myeloid leukemia with maturation | Enrichment | FLT3, KIT | 3.54 |
| 6 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | FLT3, KIT | 3.54 |
| 7 | Il10-related early-onset inflammatory bowel disease | Enrichment | IL10, TGFB1 | 3.36 |
| 8 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | FLT3, IKZF1 | 3.22 |
| 9 | Breast cancer | Enrichment | CDH1, EPCAM, IL2, IL7R | 3.13 |
| 10 | Severe combined immunodeficiency | Enrichment | CD3E, IL7R, PTPRC | 3.12 |
| 11 | Rheumatoid arthritis | Enrichment | CD244, IL10 | 2.99 |
| 12 | Primary biliary cholangitis | Enrichment | IL12A, SPIB | 2.99 |
| 13 | Leukemia, acute lymphoblastic | Enrichment | FLT3, IKZF1 | 2.81 |
| 14 | Gastric cancer | Enrichment | CDH1, EPCAM, IL1B | 2.78 |
| 15 | Alzheimer's disease | Enrichment | CSF1R, TNF | 2.66 |
| 16 | Behcet syndrome | Enrichment | IL10, IL12A | 2.33 |
| 17 | Systemic lupus erythematosus 6 | Enrichment | ITGAM | 2.26 |
| 18 | Birbeck granule deficiency | Enrichment | CD207 | 2.26 |
| 19 | Skin/hair/eye pigmentation, variation in, 8 | Enrichment | IRF4 | 2.26 |
| 20 | Mastocytosis, cutaneous | Enrichment | KIT | 2.26 |
| 21 | Hemolytic uremic syndrome, atypical 6 | Enrichment | THBD | 2.26 |
| 22 | Spinocerebellar ataxia 43 | Enrichment | MME | 2.26 |
| 23 | Immunodeficiency 116 | Enrichment | CD8A | 2.26 |
| 24 | Immunodeficiency 32a | Enrichment | IRF8 | 2.26 |
| 25 | Immunodeficiency 69 | Enrichment | IFNG | 2.26 |
| 26 | Agammaglobulinemia 10, autosomal dominant | Enrichment | SPI1 | 2.26 |
| 27 | Immunodeficiency 131 | Enrichment | IRF4 | 2.26 |
| 28 | Immunodeficiency 74, covid19-related, x-linked | Enrichment | TLR7 | 2.26 |
| 29 | Okt4 epitope deficiency | Enrichment | CD4 | 2.26 |
| 30 | Graft-versus-host disease | Enrichment | IL10 | 2.26 |
| 31 | X-linked immunodeficiency 74 | Enrichment | TLR7 | 2.26 |
| 32 | Danon disease | Enrichment | LAMP2 | 2.26 |
| 33 | Systemic lupus erythematosus 17 | Enrichment | TLR7 | 2.26 |
| 34 | Immunodeficiency 18 | Enrichment | CD3E | 2.26 |
| 35 | Thrombophilia due to thrombomodulin defect | Enrichment | THBD | 2.26 |
| 36 | Dengue virus | Enrichment | CD209 | 2.26 |
| 37 | Lynch syndrome 8 | Enrichment | EPCAM | 2.26 |
| 38 | Immunodeficiency, common variable, 3 | Enrichment | CD19 | 2.26 |
| 39 | Acute myeloid leukemia with minimal differentiation | Enrichment | FLT3 | 2.26 |
| 40 | Immunodeficiency 105, severe combined | Enrichment | PTPRC | 2.26 |
| 41 | Macular degeneration, age-related, 12 | Enrichment | CX3CR1 | 2.26 |
| 42 | Immunodeficiency, common variable, 5 | Enrichment | MS4A1 | 2.26 |
| 43 | Psoriasis | Enrichment | IL17RA | 2.26 |
| 44 | Immunodeficiency, common variable, 13 | Enrichment | IKZF1 | 2.26 |
| 45 | Immunodeficiency 53 | Enrichment | RELB | 2.26 |
| 46 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | Enrichment | CSF1R | 2.26 |
| 47 | Immunodeficiency 79 | Enrichment | CD4 | 2.26 |
| 48 | Cd45 deficiency | Enrichment | PTPRC | 2.26 |
| 49 | Chronic mast cell leukemia | Enrichment | KIT | 2.26 |
| 50 | Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization | Enrichment | MME | 2.26 |
| 51 | Csf1r-related disorder | Enrichment | CSF1R | 2.26 |
| 52 | Combined immunodeficiency due to dimerization defective ikaros mutation | Enrichment | IKZF1 | 2.26 |
| 53 | Immunodeficiency 125 | Enrichment | FLT3LG | 2.26 |
| 54 | Charcot-marie-tooth disease type 2t | Enrichment | MME | 2.26 |
| 55 | Mme-related autosomal dominant charcot marie tooth disease type 2 | Enrichment | MME | 2.26 |
| 56 | Breast lobular carcinoma | Enrichment | CDH1 | 2.26 |
| 57 | Agammaglobulinemia | Enrichment | SPI1 | 2.26 |
| 58 | Isolated bone marrow mastocytosis | Enrichment | KIT | 2.26 |
| 59 | Smoldering systemic mastocytosis | Enrichment | KIT | 2.26 |
| 60 | Mastocytosis | Enrichment | KIT | 2.26 |
| 61 | Early-onset combined immunodeficiency with low ig due to dominant negative ikaros mutation | Enrichment | IKZF1 | 2.26 |
| 62 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | Enrichment | CSF1R | 2.26 |
| 63 | Whipple disease | Enrichment | IRF4 | 2.26 |
| 64 | Cutaneous mastocytoma | Enrichment | KIT | 2.26 |
| 65 | Typical urticaria pigmentosa | Enrichment | KIT | 2.26 |
| 66 | T-b+ severe combined immunodeficiency due to il-7ralpha deficiency | Enrichment | IL7R | 2.26 |
| 67 | Nodular urticaria pigmentosa | Enrichment | KIT | 2.26 |
| 68 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.26 |
| 69 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 2.26 |
| 70 | Acute mast cell leukemia | Enrichment | KIT | 2.26 |
| 71 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 2.26 |
| 72 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.26 |
| 73 | Testis seminoma | Enrichment | KIT | 2.26 |
| 74 | Multisystem inflammatory syndrome in children | Enrichment | CD163, IFNB1 | 2.20 |
| 75 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 1.96 |
| 76 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 1.96 |
| 77 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.96 |
| 78 | Immunodeficiency 32b | Enrichment | IRF8 | 1.96 |
| 79 | Neutropenia, nonimmune chronic idiopathic, of adults | Enrichment | GFI1 | 1.96 |
| 80 | Piebald trait | Enrichment | KIT | 1.96 |
| 81 | Neutropenia, severe congenital, 2, autosomal dominant | Enrichment | GFI1 | 1.96 |
| 82 | Diarrhea 5, with tufting enteropathy, congenital | Enrichment | EPCAM | 1.96 |
| 83 | Immunodeficiency 51 | Enrichment | IL17RA | 1.96 |
| 84 | Diamond-blackfan anemia-like | Enrichment | IKZF1 | 1.96 |
| 85 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.96 |
| 86 | Immunodeficiency 127 | Enrichment | TNF | 1.96 |
| 87 | Stevens-johnson syndrome | Enrichment | IKZF1 | 1.96 |
| 88 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.96 |
| 89 | Multiple sclerosis 3 | Enrichment | IL7R | 1.96 |
| 90 | Charcot-marie-tooth disease, axonal, type 2t | Enrichment | MME | 1.96 |
| 91 | Acute myeloid leukemia without maturation | Enrichment | FLT3 | 1.96 |
| 92 | Common variable immunodeficiency phenotype due to cd19/cd81 deficiency | Enrichment | CD19 | 1.96 |
| 93 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 1.96 |
| 94 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 1.96 |
| 95 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 1.79 |
| 96 | Tuberous sclerosis 1 | Enrichment | IFNG | 1.79 |
| 97 | Leukoencephalopathy, hereditary diffuse, with spheroids 1 | Enrichment | CSF1R | 1.79 |
| 98 | Psoriatic arthritis | Enrichment | TNF | 1.79 |
| 99 | Hepatitis c virus | Enrichment | IFNG | 1.79 |
| 100 | Tuberous sclerosis 2 | Enrichment | IFNG | 1.79 |
| 101 | Testicular germ cell cancer | Enrichment | KIT | 1.79 |
| 102 | Cleidocranial dysplasia | Enrichment | RUNX2 | 1.79 |
| 103 | Migraine without aura | Enrichment | TNF | 1.79 |
| 104 | Mixed phenotype acute leukemia with t | Enrichment | FLT3 | 1.79 |
| 105 | T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta | Enrichment | CD3E | 1.79 |
| 106 | Leukemia, acute myeloid | Enrichment | FLT3, KIT | 1.70 |
| 107 | Kaposi sarcoma | Enrichment | IL6 | 1.66 |
| 108 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1 | 1.66 |
| 109 | Chronic myelomonocytic leukemia | Enrichment | FLT3 | 1.66 |
| 110 | Cerebral malaria | Enrichment | TNF | 1.66 |
| 111 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 1.66 |
| 112 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.66 |
| 113 | Hereditary breast carcinoma | Enrichment | CDH1, EPCAM | 1.62 |
| 114 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.57 |
| 115 | Vascular dementia | Enrichment | TNF | 1.57 |
| 116 | Autosomal dominant severe congenital neutropenia | Enrichment | GFI1 | 1.57 |
| 117 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.57 |
| 118 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.49 |
| 119 | Testicular germ cell tumor | Enrichment | KIT | 1.49 |
| 120 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.49 |
| 121 | Chronic mucocutaneous candidiasis | Enrichment | IL17RA | 1.49 |
| 122 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.49 |
| 123 | Atypical hemolytic uremic syndrome with complement gene abnormality | Enrichment | THBD | 1.49 |
| 124 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, EPCAM, KIT | 1.45 |
| 125 | Myeloma, multiple | Enrichment | FLT3, IL7R | 1.43 |
| 126 | Gastrointestinal stromal tumor | Enrichment | KIT | 1.43 |
| 127 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.32 |
| 128 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | FLT3 | 1.32 |
| 129 | Colonic benign neoplasm | Enrichment | EPCAM | 1.32 |
| 130 | Lynch syndrome 1 | Enrichment | EPCAM | 1.27 |
| 131 | Omenn syndrome | Enrichment | IL7R | 1.27 |
| 132 | Aplastic anemia | Enrichment | IFNG | 1.27 |
| 133 | Autosomal non-syndromic agammaglobulinemia | Enrichment | SPI1 | 1.27 |
| 134 | Immune deficiency disease | Enrichment | IKZF1 | 1.23 |
| 135 | Asthma | Enrichment | TNF | 1.23 |
| 136 | Frontotemporal dementia 1 | Enrichment | CSF1R | 1.23 |
| 137 | Lip and oral cavity carcinoma | Enrichment | KIT | 1.20 |
| 138 | Cleft lip/palate | Enrichment | CDH1 | 1.13 |
| 139 | Lynch syndrome | Enrichment | EPCAM | 1.10 |
| 140 | Colorectal cancer | Enrichment | CDH1, EPCAM | 1.09 |
| 141 | Alzheimer disease, familial, 1 | Enrichment | CSF1R | 1.05 |
| 142 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.01 |
| 143 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | MME | 1.01 |
| 144 | Esophageal atresia/tracheoesophageal fistula | Enrichment | IRF8 | 1.01 |
| 145 | Ovarian cancer | Enrichment | CDH1, KIT | 0.98 |
| 146 | Endometrial cancer | Enrichment | CDH1 | 0.96 |
| 147 | Malaria | Enrichment | TNF | 0.93 |
| 148 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | FLT3 | 0.93 |
| 149 | Prostate cancer | Enrichment | CDH1 | 0.83 |
| 150 | Cystic fibrosis | Enrichment | TGFB1 | 0.79 |
| 151 | Peripheral nervous system disease | Enrichment | MME | 0.79 |
| 152 | Neuropathy | Enrichment | MME | 0.79 |
| 153 | Familial hypertrophic cardiomyopathy | Enrichment | LAMP2 | 0.78 |
| 154 | Left ventricular noncompaction | Enrichment | LAMP2 | 0.76 |
| 155 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.69 |
| 156 | Nephrotic syndrome | Enrichment | RUNX2 | 0.68 |
| 157 | Hypertrophic cardiomyopathy | Enrichment | LAMP2 | 0.68 |
| 158 | Thrombocytopenia | Enrichment | THBD | 0.64 |
| 159 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CSF1R | 0.56 |
| 160 | Dilated cardiomyopathy | Enrichment | LAMP2 | 0.45 |