| 1 | Alzheimer disease 2 | Enrichment | NOS3, PLAU | 4.19 |
| 2 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4, LAMA3 | 4.02 |
| 3 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4, LAMA3 | 4.02 |
| 4 | Junctional epidermolysis bullosa | Enrichment | ITGB4, LAMA3 | 3.64 |
| 5 | Alzheimer disease, familial, 1 | Enrichment | NOS3, PLAU | 3.07 |
| 6 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 2.59 |
| 7 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.59 |
| 8 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 2.59 |
| 9 | Hemolytic uremic syndrome, atypical 6 | Enrichment | THBD | 2.59 |
| 10 | Oculodentodigital dysplasia | Enrichment | GJA1 | 2.59 |
| 11 | Keutel syndrome | Enrichment | MGP | 2.59 |
| 12 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 2.59 |
| 13 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.59 |
| 14 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 2.59 |
| 15 | Thrombophilia due to thrombomodulin defect | Enrichment | THBD | 2.59 |
| 16 | Heme oxygenase 1 deficiency | Enrichment | HMOX1 | 2.59 |
| 17 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 2.59 |
| 18 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.59 |
| 19 | Aplasia cutis-enamel dysplasia syndrome | Enrichment | FOSL2 | 2.59 |
| 20 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.29 |
| 21 | Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous | Enrichment | LAMA3 | 2.29 |
| 22 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.29 |
| 23 | Quebec platelet disorder | Enrichment | PLAU | 2.29 |
| 24 | Corneal dystrophy, congenital stromal | Enrichment | DCN | 2.29 |
| 25 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.29 |
| 26 | Hallermann-streiff syndrome | Enrichment | GJA1 | 2.29 |
| 27 | Syndactyly, type iii | Enrichment | GJA1 | 2.29 |
| 28 | Syndactyly, type v | Enrichment | GJA1 | 2.29 |
| 29 | Epidermolysis bullosa, junctional 2a, intermediate | Enrichment | LAMA3 | 2.29 |
| 30 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 2.29 |
| 31 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A2 | 2.29 |
| 32 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.29 |
| 33 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 2.29 |
| 34 | Recessive dystrophic epidermolysis bullosa | Enrichment | MMP1 | 2.29 |
| 35 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.29 |
| 36 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 2.29 |
| 37 | Epidermolysis bullosa, junctional 2b, severe | Enrichment | LAMA3 | 2.29 |
| 38 | Metaphyseal anadysplasia | Enrichment | MMP9 | 2.29 |
| 39 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A2 | 2.29 |
| 40 | Joint contractures, osteochondromas, and b-cell lymphoma | Enrichment | NFATC2 | 2.29 |
| 41 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 2.29 |
| 42 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.29 |
| 43 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 2.11 |
| 44 | High bone mass osteogenesis imperfecta | Enrichment | COL1A2 | 2.11 |
| 45 | Kaposi sarcoma | Enrichment | IL6 | 1.99 |
| 46 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A2 | 1.99 |
| 47 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 1.99 |
| 48 | Mantle cell lymphoma | Enrichment | CCND1 | 1.99 |
| 49 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A2 | 1.99 |
| 50 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.99 |
| 51 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 1.89 |
| 52 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.89 |
| 53 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.89 |
| 54 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.89 |
| 55 | Pre-eclampsia | Enrichment | NOS3 | 1.89 |
| 56 | Aplasia cutis congenita | Enrichment | ITGB4 | 1.89 |
| 57 | Cleft upper lip | Enrichment | GJA1 | 1.89 |
| 58 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A2 | 1.81 |
| 59 | Li-fraumeni syndrome | Enrichment | CDKN2A | 1.81 |
| 60 | Osteogenesis imperfecta, type i | Enrichment | COL1A2 | 1.81 |
| 61 | Rubinstein-taybi syndrome 1 | Enrichment | EP300 | 1.81 |
| 62 | Epidermolysis bullosa, junctional 1b, severe | Enrichment | LAMA3 | 1.81 |
| 63 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.81 |
| 64 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGB4 | 1.81 |
| 65 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | EP300 | 1.81 |
| 66 | Adrenocortical carcinoma | Enrichment | CDKN2A | 1.81 |
| 67 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.81 |
| 68 | Classic ehlers-danlos syndrome | Enrichment | COL1A2 | 1.81 |
| 69 | Atypical hemolytic uremic syndrome with complement gene abnormality | Enrichment | THBD | 1.81 |
| 70 | Osteogenesis imperfecta, type ii | Enrichment | COL1A2 | 1.75 |
| 71 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 1.75 |
| 72 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A | 1.75 |
| 73 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1 | 1.69 |
| 74 | Hypoplastic left heart syndrome | Enrichment | GJA1 | 1.69 |
| 75 | Colorectal cancer | Enrichment | CCND1, EP300 | 1.68 |
| 76 | Charge syndrome | Enrichment | EP300 | 1.64 |
| 77 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.64 |
| 78 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.59 |
| 79 | Stroke, ischemic | Enrichment | NOS3 | 1.59 |
| 80 | Melanoma | Enrichment | CDKN2A | 1.59 |
| 81 | Primary bone dysplasia | Enrichment | COL1A2 | 1.59 |
| 82 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.55 |
| 83 | Osteochondrodysplasia | Enrichment | COL1A2 | 1.55 |
| 84 | Lip and oral cavity carcinoma | Enrichment | CDKN2A | 1.52 |
| 85 | Osteogenesis imperfecta, type iv | Enrichment | COL1A2 | 1.48 |
| 86 | Pulmonary disease, chronic obstructive | Enrichment | HMOX1 | 1.48 |
| 87 | Multiple sclerosis | Enrichment | ITGB4 | 1.45 |
| 88 | Osteoporosis | Enrichment | COL1A2 | 1.45 |
| 89 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.42 |
| 90 | Osteogenesis imperfecta, type iii | Enrichment | COL1A2 | 1.42 |
| 91 | Rare genetic intellectual disability | Enrichment | EP300 | 1.42 |
| 92 | Hypertension, essential | Enrichment | NOS3 | 1.37 |
| 93 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A | 1.37 |
| 94 | Human immunodeficiency virus type 1 | Enrichment | CCL2 | 1.34 |
| 95 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.32 |
| 96 | Ehlers-danlos syndrome | Enrichment | COL1A2 | 1.32 |
| 97 | Cardiomyopathy, dilated, 1a | Enrichment | NFATC2 | 1.28 |
| 98 | Skin disease | Enrichment | ITGB4 | 1.26 |
| 99 | Brittle bone disorder | Enrichment | COL1A2 | 1.24 |
| 100 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A | 1.24 |
| 101 | Pancreatic cancer | Enrichment | CDKN2A | 1.20 |
| 102 | Bladder cancer | Enrichment | CDKN2A | 1.14 |
| 103 | Cystic fibrosis | Enrichment | HMOX1 | 1.10 |
| 104 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.99 |
| 105 | Gastric cancer | Enrichment | CDKN2A | 0.98 |
| 106 | Thrombocytopenia | Enrichment | THBD | 0.93 |
| 107 | Myeloma, multiple | Enrichment | CCND1 | 0.87 |
| 108 | Primary ovarian insufficiency | Enrichment | NOS3 | 0.85 |
| 109 | Breast cancer | Enrichment | JUN | 0.75 |
| 110 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJA1 | 0.69 |
| 111 | Ovarian cancer | Enrichment | CDKN2A | 0.64 |
| 112 | Microcephaly | Enrichment | EP300 | 0.56 |
| 113 | Inherited cancer-predisposing syndrome | Enrichment | CDKN2A | 0.54 |