| 1 | Familial colorectal cancer | Enrichment | MLH1, MSH2, TP53 | 6.63 |
| 2 | Muir-torre syndrome | Enrichment | MLH1, MSH2 | 5.78 |
| 3 | Hepatoblastoma | Enrichment | ERCC2, MSH2, TP53 | 5.59 |
| 4 | Mismatch repair cancer syndrome 1 | Enrichment | MLH1, MSH2 | 5.00 |
| 5 | Gastric cancer | Enrichment | MLH1, MSH2, TP53 | 4.63 |
| 6 | Hereditary breast carcinoma | Enrichment | MLH1, MSH2, TP53 | 4.60 |
| 7 | Mitochondrial complex i deficiency, nuclear type 1 | Enrichment | NDUFS2, NDUFS3, NDUFS7 | 4.52 |
| 8 | Hereditary breast ovarian cancer syndrome | Enrichment | MLH1, MSH2, TP53 | 4.31 |
| 9 | Lynch syndrome 1 | Enrichment | MLH1, MSH2 | 4.13 |
| 10 | Breast cancer | Enrichment | MLH1, MSH2, TP53 | 3.90 |
| 11 | Lynch syndrome | Enrichment | MLH1, MSH2 | 3.76 |
| 12 | Colorectal cancer | Enrichment | MLH1, MSH2, TP53 | 3.71 |
| 13 | Rhabdomyosarcoma | Enrichment | MSH2, TP53 | 3.70 |
| 14 | Gliosarcoma | Enrichment | MSH2, TP53 | 3.70 |
| 15 | Giant cell glioblastoma | Enrichment | MSH2, TP53 | 3.65 |
| 16 | Ovarian cancer | Enrichment | ERCC2, MSH2, TP53 | 3.52 |
| 17 | Endometrial cancer | Enrichment | MLH1, MSH2 | 3.46 |
| 18 | Inherited cancer-predisposing syndrome | Enrichment | MLH1, MSH2, TP53 | 3.18 |
| 19 | Bladder cancer | Enrichment | ERCC2, TP53 | 3.18 |
| 20 | Colchicine resistance | Enrichment | ABCB1 | 2.88 |
| 21 | Uric acid concentration, serum, quantitative trait locus 1 | Enrichment | ABCG2 | 2.88 |
| 22 | Encephalopathy, acute transient | Enrichment | ABCB1 | 2.88 |
| 23 | Deafness, autosomal dominant 77 | Enrichment | ABCC1 | 2.88 |
| 24 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.88 |
| 25 | Papilloma of choroid plexus | Enrichment | TP53 | 2.88 |
| 26 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.88 |
| 27 | Lynch syndrome 2 | Enrichment | MLH1 | 2.88 |
| 28 | Xeroderma pigmentosum, complementation group d | Enrichment | ERCC2 | 2.88 |
| 29 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.88 |
| 30 | Inflammatory bowel disease 13 | Enrichment | ABCB1 | 2.88 |
| 31 | Acatalasemia | Enrichment | CAT | 2.88 |
| 32 | Cerebrooculofacioskeletal syndrome 2 | Enrichment | ERCC2 | 2.88 |
| 33 | Glutathione peroxidase deficiency | Enrichment | GPX1 | 2.88 |
| 34 | Ductal carcinoma in situ | Enrichment | TP53 | 2.88 |
| 35 | Blood group, junior system | Enrichment | ABCG2 | 2.88 |
| 36 | Mismatch repair cancer syndrome 2 | Enrichment | MSH2 | 2.88 |
| 37 | Rectal benign neoplasm | Enrichment | MSH2 | 2.88 |
| 38 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.88 |
| 39 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.88 |
| 40 | Ascending colon cancer | Enrichment | MSH2 | 2.88 |
| 41 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.88 |
| 42 | Choroid plexus cancer | Enrichment | TP53 | 2.88 |
| 43 | Ovarian cyst | Enrichment | MSH2 | 2.88 |
| 44 | Xeroderma pigmentosum group d | Enrichment | ERCC2 | 2.88 |
| 45 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.88 |
| 46 | Pyloric stenosis, infantile hypertrophic, 1 | Enrichment | NOS1 | 2.79 |
| 47 | Brachycephaly, deafness, cataract, microstomia, and impaired intellectual development | Enrichment | POR | 2.79 |
| 48 | Mitochondrial complex i deficiency, nuclear type 8 | Enrichment | NDUFS3 | 2.79 |
| 49 | Mitochondrial complex i deficiency, nuclear type 6 | Enrichment | NDUFS2 | 2.79 |
| 50 | Leber-like hereditary optic neuropathy, autosomal recessive 2 | Enrichment | NDUFS2 | 2.79 |
| 51 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.58 |
| 52 | Cervical cancer | Enrichment | TP53 | 2.58 |
| 53 | Xanthinuria, type i | Enrichment | XDH | 2.58 |
| 54 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.58 |
| 55 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.58 |
| 56 | Congenital fibrosarcoma | Enrichment | TP53 | 2.58 |
| 57 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.58 |
| 58 | Sarcoma | Enrichment | TP53 | 2.58 |
| 59 | Spastic tetraplegia and axial hypotonia, progressive | Enrichment | SOD1 | 2.58 |
| 60 | Cervix carcinoma | Enrichment | TP53 | 2.58 |
| 61 | Hodgkin's lymphoma | Enrichment | TP53 | 2.58 |
| 62 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.58 |
| 63 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.58 |
| 64 | Antley-bixler syndrome with genital anomalies and disordered steroidogenesis | Enrichment | POR | 2.49 |
| 65 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | POR | 2.49 |
| 66 | Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency | Enrichment | POR | 2.49 |
| 67 | Cytochrome p450 oxidoreductase deficiency | Enrichment | POR | 2.49 |
| 68 | Dubin-johnson syndrome | Enrichment | ABCC2 | 2.40 |
| 69 | Trichothiodystrophy 1, photosensitive | Enrichment | ERCC2 | 2.40 |
| 70 | Osteogenic sarcoma | Enrichment | TP53 | 2.40 |
| 71 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.40 |
| 72 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.40 |
| 73 | Anaplastic astrocytoma | Enrichment | TP53 | 2.40 |
| 74 | Xanthinuria, type ii | Enrichment | XDH | 2.40 |
| 75 | Squamous cell carcinoma | Enrichment | TP53 | 2.40 |
| 76 | Cellular ependymoma | Enrichment | MSH2 | 2.40 |
| 77 | Tanycytic ependymoma | Enrichment | MSH2 | 2.40 |
| 78 | Papillary ependymoma | Enrichment | MSH2 | 2.40 |
| 79 | Adenocarcinoma | Enrichment | TP53 | 2.40 |
| 80 | Bone osteosarcoma | Enrichment | TP53 | 2.40 |
| 81 | Clear cell ependymoma | Enrichment | MSH2 | 2.40 |
| 82 | Primary ovarian insufficiency | Enrichment | NOS3, POR | 2.39 |
| 83 | Mitochondrial complex iii deficiency, nuclear type 1 | Enrichment | NDUFS7 | 2.31 |
| 84 | Small cell cancer of the lung | Enrichment | TP53 | 2.28 |
| 85 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 2.28 |
| 86 | Lynch syndrome 4 | Enrichment | MSH2 | 2.28 |
| 87 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 2.28 |
| 88 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 2.28 |
| 89 | Craniopharyngioma | Enrichment | ERCC2 | 2.28 |
| 90 | Benign ependymoma | Enrichment | MSH2 | 2.28 |
| 91 | Idiopathic achalasia | Enrichment | NOS1 | 2.19 |
| 92 | Alzheimer disease 2 | Enrichment | NOS3 | 2.18 |
| 93 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 2.18 |
| 94 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | Enrichment | SOD1 | 2.18 |
| 95 | Pre-eclampsia | Enrichment | NOS3 | 2.18 |
| 96 | Lymphoma | Enrichment | TP53 | 2.18 |
| 97 | Glioblastoma | Enrichment | MSH2 | 2.18 |
| 98 | Acute megakaryocytic leukemia | Enrichment | TP53 | 2.18 |
| 99 | Xeroderma pigmentosum-cockayne syndrome complex | Enrichment | ERCC2 | 2.18 |
| 100 | Li-fraumeni syndrome | Enrichment | TP53 | 2.10 |
| 101 | Cerebrooculofacioskeletal syndrome 1 | Enrichment | ERCC2 | 2.10 |
| 102 | Pseudoxanthoma elasticum | Enrichment | ABCC2 | 2.10 |
| 103 | Adrenocortical carcinoma | Enrichment | TP53 | 2.10 |
| 104 | Breast adenocarcinoma | Enrichment | TP53 | 2.10 |
| 105 | Esophageal cancer | Enrichment | TP53 | 2.03 |
| 106 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 2.03 |
| 107 | Essential thrombocythemia | Enrichment | TP53 | 2.03 |
| 108 | Motor neuron disease | Enrichment | SOD1 | 2.03 |
| 109 | Gallbladder cancer | Enrichment | TP53 | 2.03 |
| 110 | Common variable immunodeficiency | Enrichment | NFKB1 | 2.03 |
| 111 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 2.03 |
| 112 | Glioma susceptibility 1 | Enrichment | TP53 | 1.98 |
| 113 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.98 |
| 114 | Inflammatory bowel disease 1 | Enrichment | ERCC2 | 1.93 |
| 115 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.93 |
| 116 | Primary hyperaldosteronism | Enrichment | TP53 | 1.93 |
| 117 | Colonic benign neoplasm | Enrichment | MLH1 | 1.93 |
| 118 | Hypotrichosis simplex | Enrichment | ERCC2 | 1.93 |
| 119 | Trichothiodystrophy | Enrichment | ERCC2 | 1.93 |
| 120 | Amyotrophic lateral sclerosis 1 | Enrichment | SOD1 | 1.88 |
| 121 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.88 |
| 122 | Stroke, ischemic | Enrichment | NOS3 | 1.88 |
| 123 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.88 |
| 124 | Xeroderma pigmentosum, variant type | Enrichment | ERCC2 | 1.84 |
| 125 | Epilepsy, idiopathic generalized | Enrichment | ABCB1 | 1.84 |
| 126 | Myelodysplastic syndrome | Enrichment | TP53 | 1.84 |
| 127 | Uterine corpus cancer | Enrichment | MSH2 | 1.84 |
| 128 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.80 |
| 129 | Breast-ovarian cancer, familial 1 | Enrichment | MSH2 | 1.77 |
| 130 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.73 |
| 131 | Corpus callosum, agenesis of | Enrichment | ERCC2 | 1.70 |
| 132 | Isolated corpus callosum agenesis | Enrichment | ERCC2 | 1.70 |
| 133 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | ERCC2 | 1.70 |
| 134 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 1.65 |
| 135 | Hypertension, essential | Enrichment | NOS3 | 1.65 |
| 136 | Lipoid congenital adrenal hyperplasia | Enrichment | POR | 1.65 |
| 137 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.60 |
| 138 | Leukodystrophy | Enrichment | ERCC2 | 1.58 |
| 139 | Hepatocellular carcinoma | Enrichment | TP53 | 1.54 |
| 140 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.52 |
| 141 | Pancreatic cancer | Enrichment | TP53 | 1.49 |
| 142 | Malaria | Enrichment | NOS2 | 1.44 |
| 143 | Prostate cancer | Enrichment | TP53 | 1.42 |
| 144 | Lung cancer | Enrichment | MLH1 | 1.38 |
| 145 | Diamond-blackfan anemia | Enrichment | TP53 | 1.33 |
| 146 | Leukemia, acute myeloid | Enrichment | TP53 | 1.29 |
| 147 | Leber hereditary optic neuropathy, modifier of | Enrichment | NDUFS2 | 1.23 |
| 148 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ABCC1 | 1.17 |
| 149 | Myeloma, multiple | Enrichment | TP53 | 1.14 |
| 150 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | SOD1 | 1.13 |
| 151 | Leigh syndrome, nuclear | Enrichment | NDUFS7 | 0.97 |
| 152 | Leigh disease | Enrichment | NDUFS7 | 0.93 |
| 153 | Leber plus disease | Enrichment | NDUFS2 | 0.84 |