| 1 | Paget disease of bone 5, juvenile-onset | Enrichment | TNFRSF11A, TNFRSF11B | 4.97 |
| 2 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 4.19 |
| 3 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, TGFBR1 | 3.80 |
| 4 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 3.42 |
| 5 | Loeys-dietz syndrome | Enrichment | SMAD3, TGFBR1 | 3.42 |
| 6 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, SMAD3, TGFBR1 | 3.39 |
| 7 | Alzheimer's disease | Enrichment | APOE, TNF | 3.09 |
| 8 | Osteoporosis | Enrichment | CALCR, COL1A1 | 3.02 |
| 9 | Ehlers-danlos syndrome | Enrichment | COL1A1, SMAD3 | 2.75 |
| 10 | Sea-blue histiocyte disease | Enrichment | APOE | 2.48 |
| 11 | Prostate cancer, hereditary, x-linked 3 | Enrichment | AR | 2.48 |
| 12 | Androgen insensitivity, partial | Enrichment | AR | 2.48 |
| 13 | Osteopetrosis, autosomal recessive 7 | Enrichment | TNFRSF11A | 2.48 |
| 14 | Lipoprotein glomerulopathy | Enrichment | APOE | 2.48 |
| 15 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.48 |
| 16 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.48 |
| 17 | Spinocerebellar ataxia 41 | Enrichment | TRPC3 | 2.48 |
| 18 | Immunodeficiency 69 | Enrichment | IFNG | 2.48 |
| 19 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.48 |
| 20 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.48 |
| 21 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.48 |
| 22 | Vitamin d-dependent rickets, type 3 | Enrichment | CYP3A4 | 2.48 |
| 23 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.48 |
| 24 | Rickets | Enrichment | VDR | 2.48 |
| 25 | Sirenomelia | Enrichment | CDX2 | 2.48 |
| 26 | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha | Enrichment | THRA | 2.48 |
| 27 | Complete androgen insensitivity syndrome | Enrichment | AR | 2.48 |
| 28 | Anorectal malformation | Enrichment | CDX2 | 2.48 |
| 29 | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome | Enrichment | CDKN1C | 2.48 |
| 30 | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta | Enrichment | THRB | 2.48 |
| 31 | Generalized resistance to thyroid hormone | Enrichment | THRB | 2.48 |
| 32 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.18 |
| 33 | Thyroid hormone resistance, selective pituitary | Enrichment | THRB | 2.18 |
| 34 | Failure of tooth eruption, primary | Enrichment | PTH1R | 2.18 |
| 35 | Familial expansile osteolysis | Enrichment | TNFRSF11A | 2.18 |
| 36 | Hypoparathyroidism, familial isolated, 1 | Enrichment | PTH | 2.18 |
| 37 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 2.18 |
| 38 | Metaphyseal chondrodysplasia, jansen type | Enrichment | PTH1R | 2.18 |
| 39 | Galactosemia ii | Enrichment | NR3C1 | 2.18 |
| 40 | Chondrodysplasia, blomstrand type | Enrichment | PTH1R | 2.18 |
| 41 | Thyroid hormone resistance, generalized, autosomal dominant | Enrichment | THRB | 2.18 |
| 42 | Spinal and bulbar muscular atrophy, x-linked 1 | Enrichment | AR | 2.18 |
| 43 | Thyroid hormone resistance, generalized, autosomal recessive | Enrichment | THRB | 2.18 |
| 44 | Alzheimer disease 3 | Enrichment | APOE | 2.18 |
| 45 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.18 |
| 46 | Eiken syndrome | Enrichment | PTH1R | 2.18 |
| 47 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1 | 2.18 |
| 48 | Hypercalcemia, infantile, 1 | Enrichment | CYP24A1 | 2.18 |
| 49 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies | Enrichment | CDKN1C | 2.18 |
| 50 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 2.18 |
| 51 | Osteopetrosis, autosomal recessive 2 | Enrichment | TNFSF11 | 2.18 |
| 52 | Hypothyroidism, congenital, nongoitrous, 6 | Enrichment | THRA | 2.18 |
| 53 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.18 |
| 54 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.18 |
| 55 | 46,xy sex reversal 1 | Enrichment | AR | 2.18 |
| 56 | Androgen insensitivity syndrome | Enrichment | AR | 2.18 |
| 57 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1 | 2.18 |
| 58 | Hyperlipoproteinemia, type iii | Enrichment | APOE | 2.18 |
| 59 | Thyroid hormone resistance syndrome | Enrichment | THRB | 2.18 |
| 60 | Osteopetrosis, autosomal recessive 3 | Enrichment | CA2 | 2.18 |
| 61 | Hypospadias 1, x-linked | Enrichment | AR | 2.18 |
| 62 | Immunodeficiency 127 | Enrichment | TNF | 2.18 |
| 63 | Pseudohypoparathyroidism | Enrichment | PTH1R | 2.18 |
| 64 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.18 |
| 65 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.18 |
| 66 | Autosomal recessive infantile hypercalcemia | Enrichment | CYP24A1 | 2.18 |
| 67 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1 | 2.18 |
| 68 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 2.18 |
| 69 | Posterior hypospadias | Enrichment | AR | 2.18 |
| 70 | Systemic lupus erythematosus | Enrichment | SPP1, TNF | 2.13 |
| 71 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 2.00 |
| 72 | Brachydactyly, type e1 | Enrichment | PTH1R | 2.00 |
| 73 | Thrombocythemia 1 | Enrichment | CALR | 2.00 |
| 74 | Dysosteosclerosis | Enrichment | TNFRSF11A | 2.00 |
| 75 | Tuberous sclerosis 1 | Enrichment | IFNG | 2.00 |
| 76 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | FASLG | 2.00 |
| 77 | Vitamin d hydroxylation-deficient rickets, type 1a | Enrichment | CYP27B1 | 2.00 |
| 78 | Alzheimer disease 4 | Enrichment | APOE | 2.00 |
| 79 | Psoriatic arthritis | Enrichment | TNF | 2.00 |
| 80 | Aromatase excess syndrome | Enrichment | CYP19A1 | 2.00 |
| 81 | Hepatitis c virus | Enrichment | IFNG | 2.00 |
| 82 | Caffey disease | Enrichment | COL1A1 | 2.00 |
| 83 | Tuberous sclerosis 2 | Enrichment | IFNG | 2.00 |
| 84 | Familial isolated hypoparathyroidism | Enrichment | PTH | 2.00 |
| 85 | Loeys-dietz syndrome 1 | Enrichment | TGFBR1 | 2.00 |
| 86 | Cleidocranial dysplasia | Enrichment | RUNX2 | 2.00 |
| 87 | Migraine without aura | Enrichment | TNF | 2.00 |
| 88 | Aromatase deficiency | Enrichment | CYP19A1 | 2.00 |
| 89 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1 | 2.00 |
| 90 | Adult-onset myasthenia gravis | Enrichment | TNFRSF11A | 2.00 |
| 91 | Kaposi sarcoma | Enrichment | IL6 | 1.88 |
| 92 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1 | 1.88 |
| 93 | Phenylketonuria | Enrichment | COL1A1 | 1.88 |
| 94 | Macular degeneration, age-related, 1 | Enrichment | APOE | 1.88 |
| 95 | Autoimmune lymphoproliferative syndrome | Enrichment | FASLG | 1.88 |
| 96 | Budd-chiari syndrome | Enrichment | CALR | 1.88 |
| 97 | Paget disease of bone 2, early-onset | Enrichment | TNFRSF11A | 1.88 |
| 98 | Chondrocalcinosis 2 | Enrichment | TNFRSF11B | 1.88 |
| 99 | Bone mineral density quantitative trait locus 15 | Enrichment | CALCR | 1.88 |
| 100 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.88 |
| 101 | Autosomal recessive osteopetrosis | Enrichment | TNFSF11 | 1.88 |
| 102 | Paget's disease of bone 2 | Enrichment | TNFRSF11A | 1.88 |
| 103 | Cerebral malaria | Enrichment | TNF | 1.88 |
| 104 | Silver-russell syndrome due to a point mutation | Enrichment | CDKN1C | 1.88 |
| 105 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1 | 1.88 |
| 106 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 1.88 |
| 107 | Primary hyperparathyroidism | Enrichment | PTH | 1.88 |
| 108 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.88 |
| 109 | Enchondromatosis, multiple, ollier type | Enrichment | PTH1R | 1.78 |
| 110 | Alzheimer disease 2 | Enrichment | APOE | 1.78 |
| 111 | Vitamin d-dependent rickets, type 2a | Enrichment | VDR | 1.78 |
| 112 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.78 |
| 113 | Insulin-like growth factor i | Enrichment | IGF1 | 1.78 |
| 114 | Osteopetrosis | Enrichment | CA2 | 1.78 |
| 115 | Histiocytoid hemangioma | Enrichment | FOS | 1.78 |
| 116 | Vascular dementia | Enrichment | TNF | 1.78 |
| 117 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.78 |
| 118 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1 | 1.70 |
| 119 | Osteogenesis imperfecta, type i | Enrichment | COL1A1 | 1.70 |
| 120 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.70 |
| 121 | Keratoconus | Enrichment | COL1A1 | 1.70 |
| 122 | Lipid metabolism disorder | Enrichment | APOE | 1.70 |
| 123 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1 | 1.64 |
| 124 | Myelofibrosis | Enrichment | CALR | 1.64 |
| 125 | Essential thrombocythemia | Enrichment | CALR | 1.64 |
| 126 | Difference of sex development | Enrichment | AR | 1.58 |
| 127 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.53 |
| 128 | Primary hyperaldosteronism | Enrichment | NR3C1 | 1.53 |
| 129 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.53 |
| 130 | Marfan syndrome | Enrichment | TGFBR1 | 1.49 |
| 131 | Aplastic anemia | Enrichment | IFNG | 1.49 |
| 132 | Primary bone dysplasia | Enrichment | COL1A1 | 1.49 |
| 133 | Pectus excavatum | Enrichment | TGFBR1 | 1.44 |
| 134 | Asthma | Enrichment | TNF | 1.44 |
| 135 | 46,xy complete gonadal dysgenesis | Enrichment | AR | 1.44 |
| 136 | Osteochondrodysplasia | Enrichment | COL1A1 | 1.44 |
| 137 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1 | 1.37 |
| 138 | Pulmonary disease, chronic obstructive | Enrichment | VDR | 1.37 |
| 139 | Multiple sclerosis | Enrichment | CYP27B1 | 1.34 |
| 140 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.34 |
| 141 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1 | 1.31 |
| 142 | Familial hypercholesterolemia | Enrichment | APOE | 1.31 |
| 143 | Alzheimer disease, familial, 1 | Enrichment | APOE | 1.26 |
| 144 | Beckwith-wiedemann syndrome | Enrichment | CDKN1C | 1.24 |
| 145 | Human immunodeficiency virus type 1 | Enrichment | IFNG | 1.24 |
| 146 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.21 |
| 147 | Williams-beuren syndrome | Enrichment | CDKN1C | 1.19 |
| 148 | Hepatocellular carcinoma | Enrichment | VDR | 1.15 |
| 149 | Brittle bone disorder | Enrichment | COL1A1 | 1.13 |
| 150 | Malaria | Enrichment | TNF | 1.13 |
| 151 | Prostate cancer | Enrichment | AR | 1.04 |
| 152 | Lung cancer | Enrichment | FASLG | 1.00 |
| 153 | Connective tissue disease | Enrichment | SMAD3 | 1.00 |
| 154 | Male infertility | Enrichment | AR | 0.97 |
| 155 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.88 |
| 156 | Gastric cancer | Enrichment | IL1B | 0.88 |
| 157 | Nephrotic syndrome | Enrichment | RUNX2 | 0.88 |
| 158 | Hypertelorism | Enrichment | COL1A1 | 0.80 |
| 159 | Myeloma, multiple | Enrichment | RXRA | 0.77 |
| 160 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | AR | 0.77 |
| 161 | Primary ovarian insufficiency | Enrichment | CYP19A1 | 0.75 |
| 162 | Breast cancer | Enrichment | JUN | 0.66 |
| 163 | Ovarian cancer | Enrichment | AR | 0.54 |