| 1 | Alzheimer's disease | Direct | | |
| 2 | Li-fraumeni syndrome | Enrichment | CDKN2A, TP53 | 4.35 |
| 3 | Adrenocortical carcinoma | Enrichment | CDKN2A, TP53 | 4.35 |
| 4 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A, TP53 | 4.20 |
| 5 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, TP53 | 3.71 |
| 6 | Neuromuscular disease | Enrichment | GOLGA2, LMNA | 3.46 |
| 7 | Pancreatic cancer | Enrichment | CDKN2A, TP53 | 3.06 |
| 8 | Bladder cancer | Enrichment | CDKN2A, TP53 | 2.93 |
| 9 | Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical | Enrichment | LMNB1 | 2.81 |
| 10 | Microvascular complications of diabetes 6 | Enrichment | SOD2 | 2.81 |
| 11 | Lissencephaly 7 with cerebellar hypoplasia | Enrichment | CDK5 | 2.81 |
| 12 | Pulmonary hypertension, primary, 6 | Enrichment | CAPNS1 | 2.81 |
| 13 | Adult onset demyelinating leukodystrophy | Enrichment | LMNB1 | 2.81 |
| 14 | Cerebral amyloid angiopathy, app-related | Enrichment | APP | 2.81 |
| 15 | Developmental delay with hypotonia, myopathy, and brain abnormalities | Enrichment | GOLGA2 | 2.81 |
| 16 | Microcephaly 26, primary, autosomal dominant | Enrichment | LMNB1 | 2.81 |
| 17 | Atypical werner syndrome | Enrichment | LMNA | 2.81 |
| 18 | Mandibuloacral dysplasia | Enrichment | LMNA | 2.81 |
| 19 | Atrioventricular block | Enrichment | LMNA | 2.81 |
| 20 | Lmna-related cardiocutaneous progeria syndrome | Enrichment | LMNA | 2.81 |
| 21 | Autosomal semi-dominant severe lipodystrophic laminopathy | Enrichment | LMNA | 2.81 |
| 22 | Distal 17p13.3 microdeletion syndrome | Enrichment | YWHAE | 2.81 |
| 23 | Autosomal recessive axonal hereditary motor and sensory neuropathy | Enrichment | LMNA | 2.81 |
| 24 | Laminopathy | Enrichment | LMNA | 2.81 |
| 25 | Combined oxidative phosphorylation deficiency 33 | Enrichment | C1QBP | 2.75 |
| 26 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.75 |
| 27 | Papilloma of choroid plexus | Enrichment | TP53 | 2.75 |
| 28 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.75 |
| 29 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.75 |
| 30 | Ductal carcinoma in situ | Enrichment | TP53 | 2.75 |
| 31 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.75 |
| 32 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.75 |
| 33 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.75 |
| 34 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.75 |
| 35 | Choroid plexus cancer | Enrichment | TP53 | 2.75 |
| 36 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.75 |
| 37 | Gastric cancer | Enrichment | CDKN2A, TP53 | 2.59 |
| 38 | Cerebral amyloid angiopathy, cst3-related | Enrichment | APP | 2.51 |
| 39 | Mandibuloacral dysplasia with type a lipodystrophy | Enrichment | LMNA | 2.51 |
| 40 | Heart-hand syndrome, slovenian type | Enrichment | LMNA | 2.51 |
| 41 | Charcot-marie-tooth disease, axonal, type 2b1 | Enrichment | LMNA | 2.51 |
| 42 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | Enrichment | CAST | 2.51 |
| 43 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism | Enrichment | LMNA | 2.51 |
| 44 | Spastic paraplegia 76, autosomal recessive | Enrichment | CAPN1 | 2.51 |
| 45 | Cardiomyopathy, dilated, 1d | Enrichment | LMNA | 2.51 |
| 46 | Restrictive dermopathy 2 | Enrichment | LMNA | 2.51 |
| 47 | Emery-dreifuss muscular dystrophy 3, autosomal recessive | Enrichment | LMNA | 2.51 |
| 48 | Lipodystrophy, familial partial, type 1 | Enrichment | LMNA | 2.51 |
| 49 | Autosomal dominant primary microcephaly | Enrichment | LMNB1 | 2.51 |
| 50 | Familial partial lipodystrophy | Enrichment | LMNA | 2.51 |
| 51 | Charcot-marie-tooth disease type 2b1 | Enrichment | LMNA | 2.51 |
| 52 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.45 |
| 53 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.45 |
| 54 | Cervical cancer | Enrichment | TP53 | 2.45 |
| 55 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.45 |
| 56 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.45 |
| 57 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.45 |
| 58 | Congenital fibrosarcoma | Enrichment | TP53 | 2.45 |
| 59 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.45 |
| 60 | Sarcoma | Enrichment | TP53 | 2.45 |
| 61 | Cervix carcinoma | Enrichment | TP53 | 2.45 |
| 62 | Hodgkin's lymphoma | Enrichment | TP53 | 2.45 |
| 63 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.45 |
| 64 | Restrictive dermopathy 1 | Enrichment | LMNA | 2.33 |
| 65 | Body mass index quantitative trait locus 12 | Enrichment | CAST | 2.33 |
| 66 | Lipodystrophy, familial partial, type 2 | Enrichment | LMNA | 2.33 |
| 67 | Miller-dieker lissencephaly syndrome | Enrichment | YWHAE | 2.33 |
| 68 | Muscular dystrophy, congenital, lmna-related | Enrichment | LMNA | 2.33 |
| 69 | Chromosome 17p13.3, centromeric, duplication syndrome | Enrichment | YWHAE | 2.33 |
| 70 | Proprotein convertase 1/3 deficiency | Enrichment | CAST | 2.33 |
| 71 | Restrictive dermopathy | Enrichment | LMNA | 2.33 |
| 72 | Osteogenic sarcoma | Enrichment | TP53 | 2.28 |
| 73 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.28 |
| 74 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.28 |
| 75 | Anaplastic astrocytoma | Enrichment | TP53 | 2.28 |
| 76 | Squamous cell carcinoma | Enrichment | TP53 | 2.28 |
| 77 | Adenocarcinoma | Enrichment | TP53 | 2.28 |
| 78 | Bone osteosarcoma | Enrichment | TP53 | 2.28 |
| 79 | Hutchinson-gilford progeria syndrome | Enrichment | LMNA | 2.21 |
| 80 | Emery-dreifuss muscular dystrophy 1, x-linked | Enrichment | LMNA | 2.21 |
| 81 | Microtia-anotia | Enrichment | LMNA | 2.21 |
| 82 | Emery-dreifuss muscular dystrophy | Enrichment | LMNA | 2.21 |
| 83 | Sick sinus syndrome | Enrichment | LMNA | 2.21 |
| 84 | Small cell cancer of the lung | Enrichment | TP53 | 2.15 |
| 85 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 2.15 |
| 86 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 2.15 |
| 87 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 2.15 |
| 88 | Breast cancer | Enrichment | JUN, TP53 | 2.11 |
| 89 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | LMNA | 2.11 |
| 90 | Histiocytoid hemangioma | Enrichment | LMNA | 2.11 |
| 91 | Endometrial stromal sarcoma | Enrichment | YWHAE | 2.11 |
| 92 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 2.05 |
| 93 | Lymphoma | Enrichment | TP53 | 2.05 |
| 94 | Acute megakaryocytic leukemia | Enrichment | TP53 | 2.05 |
| 95 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | Enrichment | LMNA | 2.03 |
| 96 | Kidney clear cell sarcoma | Enrichment | YWHAE | 2.03 |
| 97 | Breast adenocarcinoma | Enrichment | TP53 | 1.98 |
| 98 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.98 |
| 99 | Bethlem myopathy 1a | Enrichment | LMNA | 1.97 |
| 100 | Alzheimer's disease 1 | Enrichment | APP | 1.97 |
| 101 | Early-onset autosomal dominant alzheimer disease | Enrichment | APP | 1.97 |
| 102 | Methylmalonic aciduria and homocystinuria, cblc type | Enrichment | PRDX1 | 1.91 |
| 103 | Congenital muscular dystrophy | Enrichment | LMNA | 1.91 |
| 104 | Myocarditis | Enrichment | LMNA | 1.91 |
| 105 | Esophageal cancer | Enrichment | TP53 | 1.91 |
| 106 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.91 |
| 107 | Essential thrombocythemia | Enrichment | TP53 | 1.91 |
| 108 | Gallbladder cancer | Enrichment | TP53 | 1.91 |
| 109 | Ovarian cancer | Enrichment | CDKN2A, TP53 | 1.87 |
| 110 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | LMNA | 1.86 |
| 111 | Glioma susceptibility 1 | Enrichment | TP53 | 1.85 |
| 112 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.85 |
| 113 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.80 |
| 114 | Primary hyperaldosteronism | Enrichment | TP53 | 1.80 |
| 115 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.76 |
| 116 | Melanoma | Enrichment | CDKN2A | 1.76 |
| 117 | Familial colorectal cancer | Enrichment | TP53 | 1.76 |
| 118 | Cardiac conduction defect | Enrichment | LMNA | 1.73 |
| 119 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | LMNA | 1.73 |
| 120 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | LMNA | 1.73 |
| 121 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | LMNA | 1.73 |
| 122 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.71 |
| 123 | Myelodysplastic syndrome | Enrichment | TP53 | 1.71 |
| 124 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | LMNA | 1.67 |
| 125 | Inherited cancer-predisposing syndrome | Enrichment | CDKN2A, TP53 | 1.65 |
| 126 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | LMNA | 1.61 |
| 127 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.61 |
| 128 | Alzheimer disease, familial, 1 | Enrichment | APP | 1.58 |
| 129 | Cardiomyopathy, dilated, 1e | Enrichment | LMNA | 1.58 |
| 130 | Polycystic liver disease | Enrichment | CDC25A | 1.58 |
| 131 | Autosomal dominant polycystic liver disease | Enrichment | CDC25A | 1.58 |
| 132 | Rhabdomyosarcoma | Enrichment | TP53 | 1.55 |
| 133 | Gliosarcoma | Enrichment | TP53 | 1.55 |
| 134 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | LMNA | 1.54 |
| 135 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A | 1.53 |
| 136 | Giant cell glioblastoma | Enrichment | TP53 | 1.53 |
| 137 | Cardiomyopathy, dilated, 1a | Enrichment | LMNA | 1.49 |
| 138 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.48 |
| 139 | Hepatoblastoma | Enrichment | TP53 | 1.44 |
| 140 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | LMNA | 1.44 |
| 141 | Muscular dystrophy | Enrichment | LMNA | 1.44 |
| 142 | Hepatocellular carcinoma | Enrichment | TP53 | 1.42 |
| 143 | Brugada syndrome | Enrichment | LMNA | 1.40 |
| 144 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.40 |
| 145 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A | 1.40 |
| 146 | Long qt syndrome | Enrichment | LMNA | 1.33 |
| 147 | Peripheral nervous system disease | Enrichment | LMNA | 1.31 |
| 148 | Neuropathy | Enrichment | LMNA | 1.31 |
| 149 | Prostate cancer | Enrichment | TP53 | 1.30 |
| 150 | Left ventricular noncompaction | Enrichment | LMNA | 1.28 |
| 151 | Charcot-marie-tooth disease | Enrichment | LMNA | 1.21 |
| 152 | Diamond-blackfan anemia | Enrichment | TP53 | 1.21 |
| 153 | Leukemia, acute myeloid | Enrichment | TP53 | 1.16 |
| 154 | Body mass index quantitative trait locus 11 | Enrichment | CAST | 1.13 |
| 155 | Hereditary breast carcinoma | Enrichment | TP53 | 1.12 |
| 156 | Familial isolated dilated cardiomyopathy | Enrichment | LMNA | 1.10 |
| 157 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 1.03 |
| 158 | Myeloma, multiple | Enrichment | TP53 | 1.02 |
| 159 | Dilated cardiomyopathy | Enrichment | LMNA | 0.93 |
| 160 | Colorectal cancer | Enrichment | TP53 | 0.84 |
| 161 | Mitochondrial disease | Enrichment | C1QBP | 0.84 |