| 1 | Ovarian cancer | Enrichment | AKT1, ATM, BLM, CDKN1B, EGFR, MRE11, NBN, RAD50, WRN, WT1 | 10.14 |
| 2 | Breast cancer | Enrichment | AKT1, ATM, BLM, ESR1, IL2, JUN, MRE11, NBN, RAD50 | 9.98 |
| 3 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BLM, CDKN1B, EGFR, MAX, MRE11, NBN, POT1, RAD50, WT1 | 9.00 |
| 4 | Hoyeraal-hreidarsson syndrome | Enrichment | ACD, DKC1, TERT, TINF2 | 8.06 |
| 5 | Hereditary breast carcinoma | Enrichment | AKT1, ATM, BLM, ESR1, NBN, RAD50 | 7.11 |
| 6 | Melanoma, cutaneous malignant 1 | Enrichment | ACD, POT1, TERF2IP, TERT | 5.88 |
| 7 | Dyskeratosis congenita | Enrichment | DKC1, POT1, TERT, TINF2 | 5.67 |
| 8 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BLM, MRE11, NBN, RAD50 | 5.11 |
| 9 | Leukemia, chronic lymphocytic | Enrichment | ATM, CCND1, POT1 | 4.85 |
| 10 | Aplastic anemia | Enrichment | IFNG, NBN, TERT | 4.85 |
| 11 | Witteveen-kolk syndrome | Enrichment | SIN3A, SIN3B | 4.61 |
| 12 | Mantle cell lymphoma | Enrichment | ATM, CCND1 | 3.83 |
| 13 | Nijmegen breakage syndrome-like disorder | Enrichment | MRE11, RAD50 | 3.83 |
| 14 | Hepatocellular carcinoma | Enrichment | NBN, RAD50, TERT | 3.76 |
| 15 | Idiopathic aplastic anemia | Enrichment | IFNG, TERT | 3.61 |
| 16 | Dyskeratosis congenita, autosomal dominant 1 | Enrichment | TERT, TINF2 | 3.44 |
| 17 | Kidney clear cell sarcoma | Enrichment | TERT, YWHAE | 3.44 |
| 18 | Bladder cancer | Enrichment | ATM, EGFR, TERT | 3.40 |
| 19 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM, MTOR | 3.29 |
| 20 | Dyskeratosis congenita, autosomal dominant 2 | Enrichment | TERT, TINF2 | 3.29 |
| 21 | Colonic benign neoplasm | Enrichment | ATM, MRE11 | 3.06 |
| 22 | Colorectal cancer | Enrichment | AKT1, ATM, BLM, CCND1 | 3.03 |
| 23 | Gastric cancer | Enrichment | ATM, IRF1, NBN | 2.89 |
| 24 | Lung non-small cell carcinoma | Enrichment | EGFR, IRF1 | 2.88 |
| 25 | Meningioma | Enrichment | AKT1, TERT | 2.80 |
| 26 | Lip and oral cavity carcinoma | Enrichment | ABL1, EGFR | 2.80 |
| 27 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, NBN | 2.73 |
| 28 | Heart disease | Enrichment | ABL1, NR2F2 | 2.66 |
| 29 | Renal cell carcinoma, nonpapillary | Enrichment | ATM, MTOR | 2.60 |
| 30 | Gliosarcoma | Enrichment | ATM, EGFR | 2.55 |
| 31 | Giant cell glioblastoma | Enrichment | ATM, EGFR | 2.49 |
| 32 | Endometrial cancer | Enrichment | ATM, BLM | 2.31 |
| 33 | Proteus syndrome | Enrichment | AKT1 | 2.30 |
| 34 | Bloom syndrome | Enrichment | BLM | 2.30 |
| 35 | Spermatogenic failure, x-linked, 9 | Enrichment | RBBP7 | 2.30 |
| 36 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.30 |
| 37 | Tumor predisposition syndrome 3 | Enrichment | POT1 | 2.30 |
| 38 | Immunodeficiency 69 | Enrichment | IFNG | 2.30 |
| 39 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 | Enrichment | POT1 | 2.30 |
| 40 | 46,xx sex reversal 5 | Enrichment | NR2F2 | 2.30 |
| 41 | Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | Enrichment | DKC1 | 2.30 |
| 42 | Ataxia-telangiectasia-like disorder 1 | Enrichment | MRE11 | 2.30 |
| 43 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.30 |
| 44 | Meacham syndrome | Enrichment | WT1 | 2.30 |
| 45 | High-grade astrocytoma with piloid features | Enrichment | POT1 | 2.30 |
| 46 | Dyskeratosis congenita, autosomal recessive 8 | Enrichment | DCLRE1B | 2.30 |
| 47 | Cerebroretinal microangiopathy with calcifications and cysts 3 | Enrichment | POT1 | 2.30 |
| 48 | Polydactyly-macrocephaly syndrome | Enrichment | MAX | 2.30 |
| 49 | Cowden syndrome 6 | Enrichment | AKT1 | 2.30 |
| 50 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.30 |
| 51 | Immunodeficiency 91 and hyperinflammation | Enrichment | ZNFX1 | 2.30 |
| 52 | Autosomal recessive dyskeratosis congenita 4 | Enrichment | TERT | 2.30 |
| 53 | Intellectual developmental disorder, autosomal dominant 74 | Enrichment | HNRNPC | 2.30 |
| 54 | Chromosome 15q24 deletion syndrome | Enrichment | SIN3A | 2.30 |
| 55 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.30 |
| 56 | 15q11q13 microduplication syndrome | Enrichment | UBE3A | 2.30 |
| 57 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.30 |
| 58 | Distal 17p13.3 microdeletion syndrome | Enrichment | YWHAE | 2.30 |
| 59 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1, MYC | 2.23 |
| 60 | Pancreatic cancer | Enrichment | ATM, NBN | 2.16 |
| 61 | Prostate cancer | Enrichment | ATM, NBN | 2.04 |
| 62 | Burkitt lymphoma | Enrichment | MYC | 2.00 |
| 63 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.00 |
| 64 | Denys-drash syndrome | Enrichment | WT1 | 2.00 |
| 65 | Revesz syndrome | Enrichment | TINF2 | 2.00 |
| 66 | Nephrotic syndrome, type 4 | Enrichment | WT1 | 2.00 |
| 67 | Frasier syndrome | Enrichment | WT1 | 2.00 |
| 68 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 | Enrichment | TERT | 2.00 |
| 69 | Immunodeficiency 45 | Enrichment | IFNAR2 | 2.00 |
| 70 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.00 |
| 71 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.00 |
| 72 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.00 |
| 73 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.00 |
| 74 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.00 |
| 75 | Werner syndrome | Enrichment | WRN | 2.00 |
| 76 | Cebalid syndrome | Enrichment | MTOR | 2.00 |
| 77 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.00 |
| 78 | Dyskeratosis congenita, autosomal dominant 3 | Enrichment | TINF2 | 2.00 |
| 79 | Oligodendroglioma | Enrichment | POT1 | 2.00 |
| 80 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.00 |
| 81 | High grade glioma | Enrichment | ATM | 2.00 |
| 82 | Melanoma, cutaneous malignant 9 | Enrichment | TERT | 2.00 |
| 83 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.00 |
| 84 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.00 |
| 85 | Idiopathic interstitial pneumonia | Enrichment | TERT | 2.00 |
| 86 | Anaplastic oligodendroglioma | Enrichment | POT1 | 2.00 |
| 87 | Immunodeficiency 117 | Enrichment | IRF1 | 2.00 |
| 88 | Angelman syndrome due to maternal 15q11q13 deletion | Enrichment | UBE3A | 2.00 |
| 89 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.00 |
| 90 | Desmoplastic small round cell tumor | Enrichment | WT1 | 2.00 |
| 91 | Lung cancer | Enrichment | EGFR, IRF1 | 1.95 |
| 92 | Mesothelioma, malignant | Enrichment | WT1 | 1.82 |
| 93 | Ataxia-telangiectasia | Enrichment | ATM | 1.82 |
| 94 | Nijmegen breakage syndrome | Enrichment | NBN | 1.82 |
| 95 | Polycythemia vera | Enrichment | ATM | 1.82 |
| 96 | Tuberous sclerosis 1 | Enrichment | IFNG | 1.82 |
| 97 | Dyskeratosis congenita, x-linked | Enrichment | DKC1 | 1.82 |
| 98 | Hepatitis c virus | Enrichment | IFNG | 1.82 |
| 99 | Estrogen resistance | Enrichment | ESR1 | 1.82 |
| 100 | Tuberous sclerosis 2 | Enrichment | IFNG | 1.82 |
| 101 | Dyskeratosis congenita, autosomal dominant 6 | Enrichment | ACD | 1.82 |
| 102 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.82 |
| 103 | Miller-dieker lissencephaly syndrome | Enrichment | YWHAE | 1.82 |
| 104 | Chromosome 17p13.3, centromeric, duplication syndrome | Enrichment | YWHAE | 1.82 |
| 105 | Koolen-de vries syndrome | Enrichment | ATM | 1.82 |
| 106 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.82 |
| 107 | Interstitial lung disease | Enrichment | TERT | 1.82 |
| 108 | Macrocytic anemia | Enrichment | TERT | 1.82 |
| 109 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.82 |
| 110 | Adenocarcinoma | Enrichment | ATM | 1.82 |
| 111 | Migraine without aura | Enrichment | ESR1 | 1.82 |
| 112 | Immunodeficiency 44 | Enrichment | IFNAR2 | 1.82 |
| 113 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.82 |
| 114 | Angelman syndrome due to imprinting defect in 15q11-q13 | Enrichment | UBE3A | 1.82 |
| 115 | Aniridia 1 | Enrichment | WT1 | 1.70 |
| 116 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Enrichment | MRE11 | 1.70 |
| 117 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.70 |
| 118 | Spastic paraplegia 47, autosomal recessive | Enrichment | DCLRE1B | 1.70 |
| 119 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.70 |
| 120 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 1.70 |
| 121 | Lung sarcomatoid carcinoma | Enrichment | TERT | 1.70 |
| 122 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 1.70 |
| 123 | Hepatitis b | Enrichment | IFNAR2 | 1.70 |
| 124 | Aortic aneurysm | Enrichment | SMAD3 | 1.70 |
| 125 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.70 |
| 126 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.70 |
| 127 | Oculomotor apraxia | Enrichment | ATM | 1.70 |
| 128 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.61 |
| 129 | Leber congenital amaurosis 10 | Enrichment | WT1 | 1.61 |
| 130 | Congenital heart defects, multiple types, 4 | Enrichment | NR2F2 | 1.61 |
| 131 | Glioblastoma | Enrichment | ATM | 1.61 |
| 132 | Histiocytoid hemangioma | Enrichment | FOS | 1.61 |
| 133 | Hemimegalencephaly | Enrichment | MTOR | 1.61 |
| 134 | Endometrial stromal sarcoma | Enrichment | YWHAE | 1.61 |
| 135 | Angelman syndrome | Enrichment | UBE3A | 1.53 |
| 136 | Cowden syndrome 1 | Enrichment | EGFR | 1.53 |
| 137 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | WT1 | 1.53 |
| 138 | Wilms tumor 5 | Enrichment | WT1 | 1.53 |
| 139 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.53 |
| 140 | Pulmonary fibrosis | Enrichment | TERT | 1.53 |
| 141 | Adrenocortical carcinoma | Enrichment | TERT | 1.53 |
| 142 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.53 |
| 143 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.53 |
| 144 | Breast adenocarcinoma | Enrichment | AKT1 | 1.53 |
| 145 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.53 |
| 146 | 46,xy disorder of sex development | Enrichment | NR2F2 | 1.53 |
| 147 | Myeloma, multiple | Enrichment | ATM, CCND1 | 1.49 |
| 148 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.46 |
| 149 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.46 |
| 150 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.46 |
| 151 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.46 |
| 152 | Overgrowth syndrome | Enrichment | MTOR | 1.46 |
| 153 | Moyamoya angiopathy | Enrichment | ABL1 | 1.46 |
| 154 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1 | 1.46 |
| 155 | Primary ovarian insufficiency | Enrichment | NBN, WT1 | 1.45 |
| 156 | Fanconi anemia, complementation group c | Enrichment | DCLRE1B | 1.40 |
| 157 | Difference of sex development | Enrichment | WT1 | 1.40 |
| 158 | Leukemia, acute lymphoblastic 3 | Enrichment | WT1 | 1.35 |
| 159 | Loeys-dietz syndrome | Enrichment | SMAD3 | 1.35 |
| 160 | Adult hepatocellular carcinoma | Enrichment | EGF | 1.35 |
| 161 | Cowden syndrome | Enrichment | AKT1 | 1.35 |
| 162 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.35 |
| 163 | Lynch syndrome 1 | Enrichment | ATM | 1.31 |
| 164 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.31 |
| 165 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.27 |
| 166 | Immune deficiency disease | Enrichment | ATM | 1.27 |
| 167 | Leukemia, acute lymphoblastic | Enrichment | NBN | 1.27 |
| 168 | 46,xy complete gonadal dysgenesis | Enrichment | WT1 | 1.27 |
| 169 | Uterine corpus cancer | Enrichment | ATM | 1.27 |
| 170 | Familial colorectal cancer type x | Enrichment | ATM | 1.27 |
| 171 | Premature menopause | Enrichment | NBN | 1.20 |
| 172 | Medulloblastoma | Enrichment | WRN | 1.17 |
| 173 | Pheochromocytoma | Enrichment | MAX | 1.17 |
| 174 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.17 |
| 175 | Lung cancer susceptibility 3 | Enrichment | EGFR | 1.17 |
| 176 | Cataract | Enrichment | WRN | 1.17 |
| 177 | 46,xy partial gonadal dysgenesis | Enrichment | WT1 | 1.17 |
| 178 | Wilms tumor 1 | Enrichment | WT1 | 1.14 |
| 179 | Kidney disease | Enrichment | WT1 | 1.14 |
| 180 | Rare genetic intellectual disability | Enrichment | MTOR | 1.14 |
| 181 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | DKC1 | 1.11 |
| 182 | Interstitial lung disease 2 | Enrichment | TERT | 1.09 |
| 183 | Human immunodeficiency virus type 1 | Enrichment | IFNG | 1.06 |
| 184 | Arteriovenous malformations of the brain | Enrichment | EGFR | 1.04 |
| 185 | Diffuse large b-cell lymphoma | Enrichment | NBN | 1.04 |
| 186 | Ehlers-danlos syndrome | Enrichment | SMAD3 | 1.04 |
| 187 | Focal segmental glomerulosclerosis | Enrichment | WT1 | 1.02 |
| 188 | Lissencephaly | Enrichment | NBN | 1.00 |
| 189 | Hepatoblastoma | Enrichment | TERT | 1.00 |
| 190 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | MAX | 1.00 |
| 191 | Myocardial infarction | Enrichment | ESR1 | 0.98 |
| 192 | Multisystem inflammatory syndrome in children | Enrichment | IFNAR2 | 0.98 |
| 193 | Microcephaly | Enrichment | ABL1, NBN | 0.90 |
| 194 | Differentiated thyroid carcinoma | Enrichment | TERT | 0.87 |
| 195 | Cystic fibrosis | Enrichment | TGFB1 | 0.83 |
| 196 | Connective tissue disease | Enrichment | SMAD3 | 0.83 |
| 197 | Genetic steroid-resistant nephrotic syndrome | Enrichment | WT1 | 0.80 |
| 198 | Leukemia, acute myeloid | Enrichment | TERT | 0.74 |
| 199 | Type 2 diabetes mellitus | Enrichment | WRN | 0.72 |
| 200 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD3 | 0.70 |
| 201 | Complex neurodevelopmental disorder | Enrichment | HNRNPC | 0.33 |