| 1 | Breast cancer | Enrichment | ATM, BLM, BRCA1, BRCA2, CHEK2, MRE11, NBN, RAD50, RAD51, TP53 | 16.00 |
| 2 | Pancreatic cancer | Enrichment | ATM, BRCA1, BRCA2, CDKN2A, CHEK2, NBN, TP53 | 16.00 |
| 3 | Ovarian cancer | Enrichment | ATM, BLM, BRCA1, BRCA2, CDKN2A, CHEK2, FANCD2, MRE11, NBN, RAD50, TP53 | 12.19 |
| 4 | Hereditary breast carcinoma | Enrichment | ATM, BLM, BRCA1, BRCA2, CHEK2, NBN, RAD50, RAD51, TP53 | 10.92 |
| 5 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BLM, BRCA1, BRCA2, CHEK2, MRE11, NBN, RAD50, RAD51, TP53 | 10.92 |
| 6 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BLM, BRCA1, BRCA2, CDKN2A, CHEK2, MRE11, NBN, RAD50, TP53 | 9.90 |
| 7 | Gastric cancer | Enrichment | ATM, BRCA1, BRCA2, CDKN2A, CHEK2, NBN, TP53 | 9.45 |
| 8 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1, BRCA2, CHEK2, NBN | 8.94 |
| 9 | Prostate cancer | Enrichment | ATM, BRCA1, BRCA2, CHEK2, NBN, TP53 | 8.83 |
| 10 | Li-fraumeni syndrome | Enrichment | CDKN2A, CHEK2, MDM2, TP53 | 8.44 |
| 11 | Endometrial cancer | Enrichment | ATM, BLM, BRCA1, BRCA2, CHEK2 | 7.75 |
| 12 | Uterine corpus cancer | Enrichment | ATM, BRCA1, CHEK2 | 7.48 |
| 13 | Colorectal cancer | Enrichment | ATM, BAX, BLM, BRCA1, BRCA2, CHEK2, TP53 | 7.26 |
| 14 | Bladder cancer | Enrichment | ATM, BRCA1, BRCA2, CDKN2A, TP53 | 7.00 |
| 15 | Li-fraumeni syndrome 1 | Enrichment | CHEK2, TP53 | 6.41 |
| 16 | Sarcoma | Enrichment | CHEK2, TP53 | 6.41 |
| 17 | Diffuse large b-cell lymphoma | Enrichment | BRCA2, CHEK2, NBN, TP53 | 6.05 |
| 18 | Osteogenic sarcoma | Enrichment | CHEK2, TP53 | 5.93 |
| 19 | Adenocarcinoma | Enrichment | ATM, TP53 | 5.93 |
| 20 | Bone osteosarcoma | Enrichment | CHEK2, TP53 | 5.93 |
| 21 | Colonic benign neoplasm | Enrichment | ATM, CHEK2, MRE11 | 5.92 |
| 22 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1, CDKN2A, TP53 | 5.66 |
| 23 | Myeloma, multiple | Enrichment | ATM, BRCA2, LATS1, TP53, YAP1 | 5.53 |
| 24 | Familial colorectal cancer type x | Enrichment | ATM, BRCA2, CHEK2 | 4.99 |
| 25 | Fanconi anemia, complementation group a | Enrichment | BRCA1, BRCA2, FANCD2, RAD51 | 4.94 |
| 26 | Lip and oral cavity carcinoma | Enrichment | ABL1, CDKN2A, TP53 | 4.87 |
| 27 | Inflammatory breast carcinoma | Enrichment | BRCA1, BRCA2 | 4.79 |
| 28 | Bilateral breast cancer | Enrichment | BRCA1, BRCA2 | 4.79 |
| 29 | Lynch syndrome 1 | Enrichment | ATM, CHEK2 | 4.76 |
| 30 | Leukemia, chronic lymphocytic | Enrichment | ATM, TP53 | 4.76 |
| 31 | Wilms tumor 1 | Enrichment | BRCA2, CHEK2, TRIM28 | 4.56 |
| 32 | Rhabdomyosarcoma | Enrichment | BRCA1, BRCA2, TP53 | 4.47 |
| 33 | Nijmegen breakage syndrome-like disorder | Enrichment | MRE11, RAD50 | 4.44 |
| 34 | Gliosarcoma | Enrichment | ATM, TP53 | 4.33 |
| 35 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1, BAX | 4.32 |
| 36 | Giant cell glioblastoma | Enrichment | ATM, TP53 | 4.28 |
| 37 | Wilms tumor 5 | Enrichment | CHEK2, TRIM28 | 4.04 |
| 38 | Wiedemann-steiner syndrome | Enrichment | SMC1A, SMC3 | 4.04 |
| 39 | Hepatocellular carcinoma | Enrichment | NBN, RAD50, TP53 | 4.04 |
| 40 | Small cell cancer of the lung | Enrichment | TP53, TP73 | 4.02 |
| 41 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1, BRCA2 | 4.02 |
| 42 | Cholangiocarcinoma | Enrichment | BRCA1, BRCA2 | 4.02 |
| 43 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1, BRCA2 | 3.80 |
| 44 | Lung cancer | Enrichment | BRCA1, CHEK2 | 3.72 |
| 45 | Cornelia de lange syndrome 1 | Enrichment | SMC1A, SMC3 | 3.66 |
| 46 | Cornelia de lange syndrome | Enrichment | SMC1A, SMC3 | 3.66 |
| 47 | Adrenocortical carcinoma | Enrichment | CDKN2A, TP53 | 3.62 |
| 48 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 3.18 |
| 49 | Seckel syndrome 1 | Enrichment | ATR | 3.18 |
| 50 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 3.18 |
| 51 | Papilloma of choroid plexus | Enrichment | TP53 | 3.18 |
| 52 | Basal cell carcinoma 7 | Enrichment | TP53 | 3.18 |
| 53 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 3.18 |
| 54 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 3.18 |
| 55 | Tumor predisposition syndrome 4 | Enrichment | CHEK2 | 3.18 |
| 56 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 3.18 |
| 57 | Immunodeficiency 26 with or without neurologic abnormalities | Enrichment | PRKDC | 3.18 |
| 58 | Endometrial serous adenocarcinoma | Enrichment | ATM | 3.18 |
| 59 | Ductal carcinoma in situ | Enrichment | TP53 | 3.18 |
| 60 | Leiomyosarcoma | Enrichment | CHEK2 | 3.18 |
| 61 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 3.18 |
| 62 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 3.18 |
| 63 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 3.18 |
| 64 | Oocyte/zygote/embryo maturation arrest 21 | Enrichment | CHEK1 | 3.18 |
| 65 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 3.18 |
| 66 | Choroid plexus cancer | Enrichment | TP53 | 3.18 |
| 67 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 3.18 |
| 68 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 3.18 |
| 69 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 3.18 |
| 70 | Melanoma | Enrichment | CDKN2A, CHEK2 | 3.15 |
| 71 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A, NBN | 3.06 |
| 72 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.88 |
| 73 | Cervical cancer | Enrichment | TP53 | 2.88 |
| 74 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.88 |
| 75 | Congenital heart defects, multiple types, 3 | Enrichment | CHEK2 | 2.88 |
| 76 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.88 |
| 77 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.88 |
| 78 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.88 |
| 79 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.88 |
| 80 | Congenital fibrosarcoma | Enrichment | TP53 | 2.88 |
| 81 | High grade glioma | Enrichment | ATM | 2.88 |
| 82 | Cervix carcinoma | Enrichment | TP53 | 2.88 |
| 83 | Hodgkin's lymphoma | Enrichment | TP53 | 2.88 |
| 84 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.88 |
| 85 | Peritoneum cancer | Enrichment | BRCA1 | 2.88 |
| 86 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.88 |
| 87 | Ataxia-telangiectasia | Enrichment | ATM | 2.70 |
| 88 | Polycythemia vera | Enrichment | ATM | 2.70 |
| 89 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.70 |
| 90 | Koolen-de vries syndrome | Enrichment | ATM | 2.70 |
| 91 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.70 |
| 92 | Anaplastic astrocytoma | Enrichment | TP53 | 2.70 |
| 93 | Squamous cell carcinoma | Enrichment | TP53 | 2.70 |
| 94 | Bloom syndrome | Enrichment | BLM | 2.60 |
| 95 | Developmental and epileptic encephalopathy 85 with or without midline brain defects | Enrichment | SMC1A | 2.60 |
| 96 | Cornelia de lange syndrome 3 with or without midline brain defects | Enrichment | SMC3 | 2.60 |
| 97 | Seckel syndrome 2 | Enrichment | RBBP8 | 2.60 |
| 98 | Accelerated tumor formation | Enrichment | MDM2 | 2.60 |
| 99 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.60 |
| 100 | Jawad syndrome | Enrichment | RBBP8 | 2.60 |
| 101 | Ataxia-telangiectasia-like disorder 1 | Enrichment | MRE11 | 2.60 |
| 102 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 | Enrichment | TOP3A | 2.60 |
| 103 | Wilms tumor 7 | Enrichment | TRIM28 | 2.60 |
| 104 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 2.58 |
| 105 | Mantle cell lymphoma | Enrichment | ATM | 2.58 |
| 106 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 2.58 |
| 107 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 2.58 |
| 108 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 2.58 |
| 109 | Hemoglobin c disease | Enrichment | CHEK2 | 2.58 |
| 110 | Oculomotor apraxia | Enrichment | ATM | 2.58 |
| 111 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | CHEK1 | 2.58 |
| 112 | Hepatoblastoma | Enrichment | BRCA2, TP53 | 2.49 |
| 113 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 2.48 |
| 114 | Lymphoma | Enrichment | TP53 | 2.48 |
| 115 | Glioblastoma | Enrichment | ATM | 2.48 |
| 116 | Acute megakaryocytic leukemia | Enrichment | TP53 | 2.48 |
| 117 | Microcephaly | Enrichment | ABL1, NBN, SMC1A | 2.45 |
| 118 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1, CDKN2A | 2.41 |
| 119 | Clear cell renal cell carcinoma | Enrichment | ATM | 2.40 |
| 120 | Breast adenocarcinoma | Enrichment | TP53 | 2.40 |
| 121 | Torticollis | Enrichment | ACTL6A | 2.39 |
| 122 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development | Enrichment | YAP1 | 2.39 |
| 123 | Glioma susceptibility 3 | Enrichment | BRCA2 | 2.39 |
| 124 | Mirror movements 2 | Enrichment | RAD51 | 2.39 |
| 125 | Lissencephaly 7 with cerebellar hypoplasia | Enrichment | CDK5 | 2.39 |
| 126 | Ciliary dyskinesia, primary, 47, and lissencephaly | Enrichment | TP73 | 2.39 |
| 127 | Fanconi anemia, complementation group r | Enrichment | RAD51 | 2.39 |
| 128 | Pancreatic cancer 2 | Enrichment | BRCA2 | 2.39 |
| 129 | Uveal coloboma-cleft lip and palate-intellectual disability | Enrichment | YAP1 | 2.39 |
| 130 | Ataxia-telangiectasia-like disorder 2 | Enrichment | PCNA | 2.39 |
| 131 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.39 |
| 132 | Esophageal cancer | Enrichment | TP53 | 2.33 |
| 133 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 2.33 |
| 134 | Leukemia, chronic myeloid | Enrichment | ABL1 | 2.33 |
| 135 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 2.33 |
| 136 | Essential thrombocythemia | Enrichment | TP53 | 2.33 |
| 137 | Gallbladder cancer | Enrichment | TP53 | 2.33 |
| 138 | Moyamoya angiopathy | Enrichment | ABL1 | 2.33 |
| 139 | Cornelia de lange syndrome 2 | Enrichment | SMC1A | 2.30 |
| 140 | Lig4 syndrome | Enrichment | XRCC4 | 2.30 |
| 141 | Severe combined immunodeficiency with sensitivity to ionizing radiation | Enrichment | DCLRE1C | 2.30 |
| 142 | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | Enrichment | KAT5 | 2.30 |
| 143 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | Enrichment | CTBP1 | 2.30 |
| 144 | Microcephaly and chorioretinopathy, autosomal recessive, 3 | Enrichment | TP53BP1 | 2.30 |
| 145 | Short stature, microcephaly, and endocrine dysfunction | Enrichment | XRCC4 | 2.30 |
| 146 | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | Enrichment | TOP3A | 2.30 |
| 147 | Microcephaly and chorioretinopathy 3 | Enrichment | TP53BP1 | 2.30 |
| 148 | Microcephalic primordial dwarfism-insulin resistance syndrome | Enrichment | XRCC4 | 2.30 |
| 149 | Glioma susceptibility 1 | Enrichment | TP53 | 2.28 |
| 150 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 2.28 |
| 151 | Adult hepatocellular carcinoma | Enrichment | TP53 | 2.22 |
| 152 | Primary hyperaldosteronism | Enrichment | TP53 | 2.22 |
| 153 | Familial colorectal cancer | Enrichment | TP53 | 2.18 |
| 154 | Immune deficiency disease | Enrichment | ATM | 2.14 |
| 155 | Myelodysplastic syndrome | Enrichment | TP53 | 2.14 |
| 156 | Nijmegen breakage syndrome | Enrichment | NBN | 2.12 |
| 157 | Ehlers-danlos syndrome, kyphoscoliotic type, 1 | Enrichment | DCLRE1C | 2.12 |
| 158 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 2.12 |
| 159 | Plod1-related kyphoscoliotic ehlers-danlos syndrome | Enrichment | DCLRE1C | 2.12 |
| 160 | Well-differentiated liposarcoma | Enrichment | MDM2 | 2.12 |
| 161 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.09 |
| 162 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.09 |
| 163 | Diffuse midline glioma, h3 k27m-mutant | Enrichment | BRCA2 | 2.09 |
| 164 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.09 |
| 165 | Fanconi anemia, complementation group d1 | Enrichment | BRCA2 | 2.09 |
| 166 | Lymphatic malformation 10 | Enrichment | MCPH1 | 2.09 |
| 167 | Malignant peritoneal mesothelioma | Enrichment | LATS1 | 2.09 |
| 168 | Neuroendocrine tumor of pancreas | Enrichment | BRCA2 | 2.09 |
| 169 | Nk-cell enteropathy | Enrichment | CHEK2 | 2.07 |
| 170 | Lung cancer susceptibility 3 | Enrichment | TP53 | 2.03 |
| 171 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 2.03 |
| 172 | Seckel syndrome | Enrichment | ATR | 2.03 |
| 173 | Heart disease | Enrichment | ABL1 | 2.03 |
| 174 | Primary ovarian insufficiency | Enrichment | CHEK2, NBN | 2.02 |
| 175 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 2.00 |
| 176 | Lynch syndrome | Enrichment | CHEK2 | 2.00 |
| 177 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Enrichment | MRE11 | 2.00 |
| 178 | Erythrocytosis, familial, 2 | Enrichment | FANCD2 | 2.00 |
| 179 | Aicardi-goutieres syndrome 1 | Enrichment | DCLRE1C | 2.00 |
| 180 | Autosomal recessive chorioretinopathy-microcephaly syndrome | Enrichment | TP53BP1 | 2.00 |
| 181 | Leukemia, acute myeloid | Enrichment | FANCD2, TP53 | 1.94 |
| 182 | Right atrial isomerism | Enrichment | UPF1 | 1.92 |
| 183 | Congenital heart defects, multiple types, 6 | Enrichment | UPF1 | 1.92 |
| 184 | Tumor predisposition syndrome 1 | Enrichment | BRCA2 | 1.92 |
| 185 | Arthrogryposis multiplex congenita 6 | Enrichment | RIF1 | 1.92 |
| 186 | Umbilical hernia | Enrichment | ACTL6A | 1.92 |
| 187 | Bap1 tumor predisposition syndrome | Enrichment | BRCA2 | 1.92 |
| 188 | Respiratory failure | Enrichment | TP73 | 1.92 |
| 189 | Fanconi anemia, complementation group d2 | Enrichment | FANCD2 | 1.90 |
| 190 | Von hippel-lindau syndrome | Enrichment | FANCD2 | 1.90 |
| 191 | Wolf-hirschhorn syndrome | Enrichment | CTBP1 | 1.83 |
| 192 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.82 |
| 193 | Mirror movements 1 | Enrichment | RAD51 | 1.79 |
| 194 | Nemaline myopathy 2 | Enrichment | RIF1 | 1.79 |
| 195 | Chordoma | Enrichment | BRCA2 | 1.79 |
| 196 | Malignant epithelioid hemangioendothelioma | Enrichment | YAP1 | 1.79 |
| 197 | Ciliary dyskinesia, primary, 22 | Enrichment | RASSF1 | 1.79 |
| 198 | Transposition of the great arteries | Enrichment | UPF1 | 1.79 |
| 199 | Isolated growth hormone deficiency, type ia | Enrichment | XRCC4 | 1.70 |
| 200 | Rett syndrome, congenital variant | Enrichment | SMC1A | 1.70 |
| 201 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | TRAF6 | 1.70 |
| 202 | Microcephaly 1, primary, autosomal recessive | Enrichment | MCPH1 | 1.70 |
| 203 | Diamond-blackfan anemia | Enrichment | TP53 | 1.63 |
| 204 | Kabuki syndrome 1 | Enrichment | BRCA2 | 1.62 |
| 205 | Inguinal hernia | Enrichment | ACTL6A | 1.62 |
| 206 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.62 |
| 207 | Omenn syndrome | Enrichment | DCLRE1C | 1.61 |
| 208 | Aplastic anemia | Enrichment | NBN | 1.61 |
| 209 | Gastroesophageal reflux | Enrichment | ACTL6A | 1.50 |
| 210 | Premature menopause | Enrichment | NBN | 1.49 |
| 211 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | BRCA2 | 1.44 |
| 212 | Polydactyly | Enrichment | BRCA2 | 1.44 |
| 213 | Nemaline myopathy | Enrichment | RIF1 | 1.40 |
| 214 | Isolated tracheo-esophageal fistula | Enrichment | BRCA2 | 1.40 |
| 215 | Polycystic liver disease | Enrichment | CDC25A | 1.38 |
| 216 | Autosomal dominant polycystic liver disease | Enrichment | CDC25A | 1.38 |
| 217 | Atrial heart septal defect | Enrichment | ACTL6A | 1.36 |
| 218 | Interatrial communication | Enrichment | ACTL6A | 1.36 |
| 219 | Semilobar holoprosencephaly | Enrichment | SMC1A | 1.35 |
| 220 | Lissencephaly | Enrichment | NBN | 1.29 |
| 221 | Microphthalmia/coloboma 12 | Enrichment | YAP1 | 1.29 |
| 222 | Medulloblastoma | Enrichment | BRCA2 | 1.26 |
| 223 | Coloboma of macula | Enrichment | YAP1 | 1.23 |
| 224 | Isolated congenital microcephaly | Enrichment | MCPH1 | 1.20 |
| 225 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A | 1.18 |
| 226 | Congenital nervous system abnormality | Enrichment | MCPH1, SMC1A | 1.16 |
| 227 | Nervous system disease | Enrichment | MCPH1, SMC1A | 1.16 |
| 228 | Esophageal atresia/tracheoesophageal fistula | Enrichment | BRCA2 | 1.13 |
| 229 | Severe combined immunodeficiency | Enrichment | DCLRE1C | 1.10 |
| 230 | Complex neurodevelopmental disorder | Enrichment | ACTL6A, UPF1 | 1.05 |
| 231 | Muscular dystrophy | Enrichment | RIF1 | 1.03 |
| 232 | Strabismus | Enrichment | UPF1 | 0.98 |
| 233 | Primary autosomal recessive microcephaly | Enrichment | MCPH1 | 0.91 |
| 234 | Cerebral palsy | Enrichment | BRCA2 | 0.83 |
| 235 | Hypertelorism | Enrichment | UPF1 | 0.72 |
| 236 | Mitochondrial disease | Enrichment | TOP3A | 0.71 |
| 237 | Autism spectrum disorder | Enrichment | SMC3 | 0.62 |