| 1 | Interstitial lung disease 2 | Enrichment | ATP11A, DPP9, DSP, FAM13A, MUC5B, PARN, RTEL1, SFTPA1, SFTPA2, SFTPC, STN1, TERT | 16.00 |
| 2 | Pulmonary fibrosis | Enrichment | MUC5B, PARN, RTEL1, TERT | 8.20 |
| 3 | Human immunodeficiency virus type 1 | Enrichment | CCL11, CCL2, CCL3, CCL5, CCR2 | 7.82 |
| 4 | Hoyeraal-hreidarsson syndrome | Enrichment | PARN, RTEL1, TERT | 5.72 |
| 5 | Asthma | Enrichment | CCL11, IL13, TNF | 4.81 |
| 6 | Dyskeratosis congenita | Enrichment | PARN, RTEL1, TERT | 4.06 |
| 7 | Cystic fibrosis | Enrichment | HMOX1, SERPINA1, TGFB1 | 3.37 |
| 8 | Systemic lupus erythematosus | Enrichment | MECP2, SPP1, TNF | 3.11 |
| 9 | Meningioma | Enrichment | PDGFB, TERT | 2.87 |
| 10 | Pulmonary disease, chronic obstructive | Enrichment | HMOX1, SERPINA1 | 2.80 |
| 11 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.33 |
| 12 | Facial hypertrichosis | Enrichment | MECP2 | 2.33 |
| 13 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.33 |
| 14 | Surfactant metabolism dysfunction, pulmonary, 2 | Enrichment | SFTPC | 2.33 |
| 15 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.33 |
| 16 | Polycystic lung disease | Enrichment | CCR2 | 2.33 |
| 17 | Dyskeratosis congenita, autosomal recessive 6 | Enrichment | PARN | 2.33 |
| 18 | Interstitial lung disease 1 | Enrichment | SFTPA1 | 2.33 |
| 19 | Auriculocondylar syndrome 3 | Enrichment | EDN1 | 2.33 |
| 20 | Intellectual developmental disorder, x-linked, syndromic, lubs type | Enrichment | MECP2 | 2.33 |
| 21 | Autism x-linked 3 | Enrichment | MECP2 | 2.33 |
| 22 | Immunodeficiency, developmental delay, and hypohomocysteinemia | Enrichment | NFE2L2 | 2.33 |
| 23 | Deafness, autosomal dominant 33 | Enrichment | ATP11A | 2.33 |
| 24 | Allergic rhinitis | Enrichment | IL13 | 2.33 |
| 25 | Leukodystrophy, hypomyelinating, 24 | Enrichment | ATP11A | 2.33 |
| 26 | Question mark ears, isolated | Enrichment | EDN1 | 2.33 |
| 27 | Immunodeficiency 29 | Enrichment | IL12B | 2.33 |
| 28 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4 | Enrichment | PARN | 2.33 |
| 29 | Syndromic x-linked intellectual disability lubs type | Enrichment | MECP2 | 2.33 |
| 30 | Alpha-1-antitrypsin deficiency | Enrichment | SERPINA1 | 2.33 |
| 31 | Colorectal cancer 3 | Enrichment | SMAD7 | 2.33 |
| 32 | Heme oxygenase 1 deficiency | Enrichment | HMOX1 | 2.33 |
| 33 | Chronic respiratory distress with surfactant metabolism deficiency | Enrichment | SFTPC | 2.33 |
| 34 | Cerebroretinal microangiopathy with calcifications and cysts 2 | Enrichment | STN1 | 2.33 |
| 35 | Autosomal recessive dyskeratosis congenita 4 | Enrichment | TERT | 2.33 |
| 36 | Auditory neuropathy, autosomal dominant 2 | Enrichment | ATP11A | 2.33 |
| 37 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome | Enrichment | DSP | 2.33 |
| 38 | Hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation | Enrichment | SERPINA1 | 2.33 |
| 39 | Extrinsic allergic alveolitis | Enrichment | MUC5B | 2.33 |
| 40 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.33 |
| 41 | Severe covid-19 | Enrichment | DPP9, MUC5B | 2.10 |
| 42 | Cutis laxa, autosomal dominant 1 | Enrichment | ELN | 2.03 |
| 43 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.03 |
| 44 | Kyphomelic dysplasia | Enrichment | CCN2 | 2.03 |
| 45 | Encephalopathy, neonatal severe, due to mecp2 mutations | Enrichment | MECP2 | 2.03 |
| 46 | Arrhythmogenic right ventricular dysplasia, familial, 8 | Enrichment | DSP | 2.03 |
| 47 | Quebec platelet disorder | Enrichment | PLAU | 2.03 |
| 48 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 2.03 |
| 49 | Panbronchiolitis, diffuse | Enrichment | MUC5B | 2.03 |
| 50 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 | Enrichment | TERT | 2.03 |
| 51 | Dyskeratosis congenita, autosomal recessive 5 | Enrichment | RTEL1 | 2.03 |
| 52 | Keratosis palmoplantaris striata ii | Enrichment | DSP | 2.03 |
| 53 | Supravalvular aortic stenosis | Enrichment | ELN | 2.03 |
| 54 | Spondyloepimetaphyseal dysplasia, li-shao-li type | Enrichment | CCN2 | 2.03 |
| 55 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | Enrichment | DSP | 2.03 |
| 56 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.03 |
| 57 | Intellectual developmental disorder, x-linked, syndromic 13 | Enrichment | MECP2 | 2.03 |
| 58 | Immunodeficiency 127 | Enrichment | TNF | 2.03 |
| 59 | Autosomal dominant dyskeratosis congenita 4 | Enrichment | RTEL1 | 2.03 |
| 60 | Progressive familial heart block | Enrichment | DSP | 2.03 |
| 61 | X-linked intellectual disability-psychosis-macroorchidism syndrome | Enrichment | MECP2 | 2.03 |
| 62 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.03 |
| 63 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 2.03 |
| 64 | Cardiomyopathy, dilated, with woolly hair and keratoderma | Enrichment | DSP | 2.03 |
| 65 | Melanoma, cutaneous malignant 9 | Enrichment | TERT | 2.03 |
| 66 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 | Enrichment | RTEL1 | 2.03 |
| 67 | Deafness, autosomal dominant 84 | Enrichment | ATP11A | 2.03 |
| 68 | Idiopathic interstitial pneumonia | Enrichment | TERT | 2.03 |
| 69 | Hereditary mixed polyposis syndrome | Enrichment | GREM1 | 2.03 |
| 70 | Hatipoglu immunodeficiency syndrome | Enrichment | DPP9 | 2.03 |
| 71 | Metaphyseal anadysplasia | Enrichment | MMP9 | 2.03 |
| 72 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 2.03 |
| 73 | Progressive bulbar palsy | Enrichment | MECP2 | 2.03 |
| 74 | Bruxism | Enrichment | MECP2 | 2.03 |
| 75 | Laryngomalacia | Enrichment | MECP2 | 1.86 |
| 76 | Alagille syndrome 1 | Enrichment | FAM13A | 1.86 |
| 77 | Takayasu arteritis | Enrichment | IL12B | 1.86 |
| 78 | Intellectual developmental disorder, x-linked 109 | Enrichment | SERPINA1 | 1.86 |
| 79 | Dyskeratosis congenita, x-linked | Enrichment | RTEL1 | 1.86 |
| 80 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.86 |
| 81 | Psoriatic arthritis | Enrichment | TNF | 1.86 |
| 82 | Epidermolysis bullosa, lethal acantholytic | Enrichment | DSP | 1.86 |
| 83 | Polycystic kidney disease 2 with or without polycystic liver disease | Enrichment | FAM13A | 1.86 |
| 84 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | Enrichment | DSP | 1.86 |
| 85 | Woolly hair-skin fragility syndrome | Enrichment | DSP | 1.86 |
| 86 | Polycystic kidney disease 2 | Enrichment | FAM13A | 1.86 |
| 87 | Keratosis palmoplantaris striata | Enrichment | DSP | 1.86 |
| 88 | Cerebroretinal microangiopathy with calcifications and cysts 1 | Enrichment | STN1 | 1.86 |
| 89 | Autosomal dominant cutis laxa | Enrichment | ELN | 1.86 |
| 90 | Interstitial lung disease | Enrichment | TERT | 1.86 |
| 91 | Squamous cell carcinoma | Enrichment | FAM13A | 1.86 |
| 92 | Macrocytic anemia | Enrichment | TERT | 1.86 |
| 93 | Migraine without aura | Enrichment | TNF | 1.86 |
| 94 | Pediatric acute respiratory distress syndrome | Enrichment | SFTPC | 1.86 |
| 95 | Leukemia, acute myeloid | Enrichment | RTEL1, TERT | 1.83 |
| 96 | Kaposi sarcoma | Enrichment | IL6 | 1.73 |
| 97 | Epilepsy, progressive myoclonic, 4, with or without renal failure | Enrichment | RTEL1 | 1.73 |
| 98 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | GREM1 | 1.73 |
| 99 | Auriculocondylar syndrome 1 | Enrichment | EDN1 | 1.73 |
| 100 | Lung sarcomatoid carcinoma | Enrichment | TERT | 1.73 |
| 101 | Combined oxidative phosphorylation deficiency 24 | Enrichment | RTEL1 | 1.73 |
| 102 | Sick sinus syndrome | Enrichment | MECP2 | 1.73 |
| 103 | Cerebral malaria | Enrichment | TNF | 1.73 |
| 104 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 1.73 |
| 105 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.73 |
| 106 | Alzheimer disease 2 | Enrichment | PLAU | 1.64 |
| 107 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.64 |
| 108 | Insulin-like growth factor i | Enrichment | IGF1 | 1.64 |
| 109 | Ventricular septal defect 1 | Enrichment | BMP7 | 1.64 |
| 110 | Congenital heart defects, multiple types, 4 | Enrichment | BMP7 | 1.64 |
| 111 | Cardiac arrest | Enrichment | DSP | 1.64 |
| 112 | Vascular dementia | Enrichment | TNF | 1.64 |
| 113 | Diffuse cutaneous systemic sclerosis | Enrichment | CCN2 | 1.64 |
| 114 | Hereditary pulmonary alveolar proteinosis | Enrichment | SFTPC | 1.64 |
| 115 | Idiopathic aplastic anemia | Enrichment | TERT | 1.64 |
| 116 | Angelman syndrome | Enrichment | MECP2 | 1.56 |
| 117 | Dyskeratosis congenita, autosomal dominant 1 | Enrichment | TERT | 1.56 |
| 118 | Melanoma, uveal | Enrichment | CYSLTR2 | 1.56 |
| 119 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.56 |
| 120 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.56 |
| 121 | Adrenocortical carcinoma | Enrichment | TERT | 1.56 |
| 122 | Limited scleroderma | Enrichment | CCN2 | 1.56 |
| 123 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.56 |
| 124 | Inherited arrhythmogenic cardiomyopathy | Enrichment | DSP | 1.56 |
| 125 | Kidney clear cell sarcoma | Enrichment | TERT | 1.56 |
| 126 | Rett syndrome | Enrichment | MECP2 | 1.49 |
| 127 | Dyskeratosis congenita, autosomal dominant 2 | Enrichment | TERT | 1.49 |
| 128 | Focal epilepsy | Enrichment | MECP2 | 1.49 |
| 129 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB | 1.44 |
| 130 | Rett syndrome, congenital variant | Enrichment | MECP2 | 1.44 |
| 131 | Myocarditis | Enrichment | DSP | 1.44 |
| 132 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.39 |
| 133 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | DSP | 1.39 |
| 134 | Adult hepatocellular carcinoma | Enrichment | EGF | 1.39 |
| 135 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | DSP | 1.39 |
| 136 | Aplastic anemia | Enrichment | TERT | 1.34 |
| 137 | Familial colorectal cancer | Enrichment | GREM1 | 1.34 |
| 138 | Meningioma, familial | Enrichment | PDGFB | 1.30 |
| 139 | Cardiac conduction defect | Enrichment | DSP | 1.26 |
| 140 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | DSP | 1.26 |
| 141 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | DSP | 1.26 |
| 142 | Aortic valve disease 1 | Enrichment | DSP | 1.23 |
| 143 | Alzheimer's disease | Enrichment | TNF | 1.23 |
| 144 | Stereotypic movement disorder | Enrichment | MECP2 | 1.23 |
| 145 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | DSP | 1.20 |
| 146 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | DSP | 1.14 |
| 147 | Alzheimer disease, familial, 1 | Enrichment | PLAU | 1.12 |
| 148 | Melanoma, cutaneous malignant 1 | Enrichment | TERT | 1.12 |
| 149 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.07 |
| 150 | Williams-beuren syndrome | Enrichment | ELN | 1.05 |
| 151 | Cardiomyopathy, dilated, 1a | Enrichment | DSP | 1.03 |
| 152 | Hepatoblastoma | Enrichment | TERT | 1.03 |
| 153 | Hepatocellular carcinoma | Enrichment | TERT | 1.01 |
| 154 | Attention deficit-hyperactivity disorder | Enrichment | MECP2 | 1.01 |
| 155 | Cardiomyopathy, dilated, 1g | Enrichment | DSP | 1.01 |
| 156 | Tooth agenesis | Enrichment | TGFA | 1.01 |
| 157 | Malaria | Enrichment | TNF | 0.99 |
| 158 | Bladder cancer | Enrichment | TERT | 0.90 |
| 159 | Differentiated thyroid carcinoma | Enrichment | TERT | 0.90 |
| 160 | Long qt syndrome 1 | Enrichment | DSP | 0.88 |
| 161 | Long qt syndrome | Enrichment | DSP | 0.87 |
| 162 | Lung cancer | Enrichment | NFE2L2 | 0.86 |
| 163 | Left ventricular noncompaction | Enrichment | DSP | 0.82 |
| 164 | Dystonia | Enrichment | MECP2 | 0.82 |
| 165 | Non-syndromic x-linked intellectual disability | Enrichment | MECP2 | 0.81 |
| 166 | Epilepsy | Enrichment | MECP2 | 0.77 |
| 167 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.75 |
| 168 | Gastric cancer | Enrichment | IL1B | 0.74 |
| 169 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ELN | 0.73 |
| 170 | Sensorineural hearing loss | Enrichment | HGF | 0.70 |
| 171 | Hypertelorism | Enrichment | ELN | 0.67 |
| 172 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ATP11A | 0.67 |
| 173 | Familial isolated dilated cardiomyopathy | Enrichment | DSP | 0.66 |
| 174 | Autism | Enrichment | MECP2 | 0.54 |
| 175 | Dilated cardiomyopathy | Enrichment | DSP | 0.51 |
| 176 | Colorectal cancer | Enrichment | NFE2L2 | 0.48 |
| 177 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF | 0.47 |
| 178 | Congenital nervous system abnormality | Enrichment | MECP2 | 0.41 |
| 179 | Nervous system disease | Enrichment | MECP2 | 0.41 |
| 180 | Autism spectrum disorder | Enrichment | MECP2 | 0.40 |
| 181 | Microcephaly | Enrichment | MECP2 | 0.36 |