| 1 | Ovarian cancer | Enrichment | ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, FANCA, FANCD2, MRE11, MSH2, NBN, PALB2, PPM1D, RAD50, RECQL4, TP53, WRN, XPA | 16.00 |
| 2 | Pancreatic cancer | Enrichment | ATM, BRCA1, BRCA2, BRIP1, CHEK2, NBN, PALB2, RBBP8, TP53 | 16.00 |
| 3 | Hereditary breast carcinoma | Enrichment | ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MSH2, NBN, PALB2, PPM1D, RAD50, RAD51, TP53 | 11.90 |
| 4 | Breast cancer | Enrichment | ABRAXAS1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MRE11, MSH2, NBN, PALB2, PPM1D, RAD50, RAD51, TP53 | 11.38 |
| 5 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1, BRCA2, BRIP1, CHEK2, MSH2, NBN, PALB2 | 11.18 |
| 6 | Fanconi anemia, complementation group a | Enrichment | BRCA1, BRCA2, BRIP1, FANCA, FANCD2, FANCI, PALB2, RAD51, RFWD3 | 11.12 |
| 7 | Inherited cancer-predisposing syndrome | Enrichment | ABRAXAS1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, FANCA, MLH1, MRE11, MSH2, NBN, PALB2, RAD50, RECQL, RECQL4, TP53 | 10.92 |
| 8 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MRE11, MSH2, NBN, PALB2, RAD50, RAD51, RECQL, TP53 | 10.89 |
| 9 | Gastric cancer | Enrichment | ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, FANCI, MLH1, MSH2, NBN, PALB2, TP53 | 10.71 |
| 10 | Uterine corpus cancer | Enrichment | ATM, BRCA1, BRCA2, BRIP1, CHEK2, MSH2, PALB2 | 10.71 |
| 11 | Colorectal cancer | Enrichment | ATM, BRCA1, BRCA2, BRIP1, CHEK2, FANCI, MLH1, MSH2, PALB2, RMI1, TP53 | 10.67 |
| 12 | Endometrial cancer | Enrichment | ATM, BARD1, BRCA1, BRCA2, CHEK2, MLH1, MSH2 | 10.60 |
| 13 | Prostate cancer | Enrichment | ATM, BRCA1, BRCA2, CHEK2, NBN, PALB2, TP53 | 9.52 |
| 14 | Colonic benign neoplasm | Enrichment | ATM, CHEK2, MLH1, MRE11, PALB2 | 9.07 |
| 15 | Lynch syndrome 1 | Enrichment | ATM, CHEK2, MLH1, MSH2, PALB2 | 8.78 |
| 16 | Hepatoblastoma | Enrichment | BARD1, BRCA2, FANCA, MSH2, RECQL4, TP53 | 8.72 |
| 17 | Rhabdomyosarcoma | Enrichment | BRCA1, BRCA2, MSH2, TP53 | 5.69 |
| 18 | Li-fraumeni syndrome | Enrichment | CHEK2, MDM2, TP53 | 5.39 |
| 19 | Diffuse large b-cell lymphoma | Enrichment | BRCA2, CHEK2, NBN, TP53 | 5.37 |
| 20 | Myeloma, multiple | Enrichment | ATM, BARD1, BRCA2, RECQL4, TP53 | 4.70 |
| 21 | Familial colorectal cancer | Enrichment | MLH1, MSH2, TP53 | 4.62 |
| 22 | Bladder cancer | Enrichment | ATM, BRCA1, BRCA2, TP53 | 4.60 |
| 23 | Familial colorectal cancer type x | Enrichment | ATM, BRCA2, CHEK2 | 4.49 |
| 24 | Muir-torre syndrome | Enrichment | MLH1, MSH2 | 4.45 |
| 25 | Diffuse midline glioma, h3 k27m-mutant | Enrichment | BRCA2, BRIP1 | 4.45 |
| 26 | Li-fraumeni syndrome 1 | Enrichment | CHEK2, TP53 | 4.45 |
| 27 | Sarcoma | Enrichment | CHEK2, TP53 | 4.45 |
| 28 | Inflammatory breast carcinoma | Enrichment | BRCA1, BRCA2 | 4.45 |
| 29 | Bilateral breast cancer | Enrichment | BRCA1, BRCA2 | 4.45 |
| 30 | Neuroendocrine tumor of pancreas | Enrichment | BRCA2, PALB2 | 4.45 |
| 31 | Lung cancer | Enrichment | BRCA1, CHEK2, MLH1, PALB2 | 4.43 |
| 32 | Seckel syndrome | Enrichment | ATR, ATRIP, RBBP8 | 4.15 |
| 33 | Wilms tumor 1 | Enrichment | BRCA2, CHEK2, TRIM28 | 4.05 |
| 34 | Lynch syndrome | Enrichment | CHEK2, MLH1, MSH2 | 4.05 |
| 35 | Osteogenic sarcoma | Enrichment | CHEK2, TP53 | 3.98 |
| 36 | Adenocarcinoma | Enrichment | ATM, TP53 | 3.98 |
| 37 | Bone osteosarcoma | Enrichment | CHEK2, TP53 | 3.98 |
| 38 | Gliosarcoma | Enrichment | ATM, MSH2, TP53 | 3.96 |
| 39 | Giant cell glioblastoma | Enrichment | ATM, MSH2, TP53 | 3.88 |
| 40 | Chordoma | Enrichment | BRCA2, PALB2 | 3.68 |
| 41 | Mismatch repair cancer syndrome 1 | Enrichment | MLH1, MSH2 | 3.68 |
| 42 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1, BRCA2 | 3.68 |
| 43 | Cholangiocarcinoma | Enrichment | BRCA1, BRCA2 | 3.68 |
| 44 | Nijmegen breakage syndrome-like disorder | Enrichment | MRE11, RAD50 | 3.68 |
| 45 | Hepatocellular carcinoma | Enrichment | NBN, RAD50, TP53 | 3.54 |
| 46 | Fanconi anemia, complementation group d2 | Enrichment | BRIP1, FANCD2 | 3.46 |
| 47 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1, BRCA2 | 3.46 |
| 48 | Glioblastoma | Enrichment | ATM, MSH2 | 3.46 |
| 49 | Wilms tumor 5 | Enrichment | CHEK2, TRIM28 | 3.28 |
| 50 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | BRCA2, BRIP1 | 2.91 |
| 51 | Leukemia, chronic lymphocytic | Enrichment | ATM, TP53 | 2.81 |
| 52 | Isolated tracheo-esophageal fistula | Enrichment | BRCA2, BRIP1 | 2.81 |
| 53 | Medulloblastoma | Enrichment | BRCA2, WRN | 2.51 |
| 54 | Isolated congenital microcephaly | Enrichment | MCPH1, SMARCAL1 | 2.40 |
| 55 | Primary ovarian insufficiency | Enrichment | CHEK2, FANCA, NBN | 2.28 |
| 56 | Esophageal atresia/tracheoesophageal fistula | Enrichment | BRCA2, BRIP1 | 2.25 |
| 57 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.22 |
| 58 | Developmental and epileptic encephalopathy 85 with or without midline brain defects | Enrichment | SMC1A | 2.22 |
| 59 | Rapadilino syndrome | Enrichment | RECQL4 | 2.22 |
| 60 | Incontinentia pigmenti | Enrichment | IKBKG | 2.22 |
| 61 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.22 |
| 62 | Seckel syndrome 2 | Enrichment | RBBP8 | 2.22 |
| 63 | Fanconi anemia, complementation group j | Enrichment | BRIP1 | 2.22 |
| 64 | Glioma susceptibility 3 | Enrichment | BRCA2 | 2.22 |
| 65 | Seckel syndrome 1 | Enrichment | ATR | 2.22 |
| 66 | Mirror movements 2 | Enrichment | RAD51 | 2.22 |
| 67 | Schimke immunoosseous dysplasia | Enrichment | SMARCAL1 | 2.22 |
| 68 | Accelerated tumor formation | Enrichment | MDM2 | 2.22 |
| 69 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6 | Enrichment | RPA1 | 2.22 |
| 70 | Fanconi anemia, complementation group r | Enrichment | RAD51 | 2.22 |
| 71 | Recon progeroid syndrome | Enrichment | RECQL | 2.22 |
| 72 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.22 |
| 73 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.22 |
| 74 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.22 |
| 75 | Papilloma of choroid plexus | Enrichment | TP53 | 2.22 |
| 76 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.22 |
| 77 | Lynch syndrome 2 | Enrichment | MLH1 | 2.22 |
| 78 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.22 |
| 79 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.22 |
| 80 | Pancreatic cancer 2 | Enrichment | BRCA2 | 2.22 |
| 81 | Jawad syndrome | Enrichment | RBBP8 | 2.22 |
| 82 | Tumor predisposition syndrome 4 | Enrichment | CHEK2 | 2.22 |
| 83 | Deafness, autosomal dominant 70 | Enrichment | MCM2 | 2.22 |
| 84 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | Enrichment | TDP1 | 2.22 |
| 85 | Fanconi anemia, complementation group w | Enrichment | RFWD3 | 2.22 |
| 86 | Ataxia-telangiectasia-like disorder 1 | Enrichment | MRE11 | 2.22 |
| 87 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 2.22 |
| 88 | Intellectual developmental disorder, autosomal recessive 38 | Enrichment | HERC2 | 2.22 |
| 89 | Immunodeficiency 26 with or without neurologic abnormalities | Enrichment | PRKDC | 2.22 |
| 90 | Nephronophthisis 15 | Enrichment | CEP164 | 2.22 |
| 91 | Ataxia-telangiectasia-like disorder 2 | Enrichment | PCNA | 2.22 |
| 92 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.22 |
| 93 | Ductal carcinoma in situ | Enrichment | TP53 | 2.22 |
| 94 | Mismatch repair cancer syndrome 2 | Enrichment | MSH2 | 2.22 |
| 95 | Meier-gorlin syndrome 7 | Enrichment | CDC45 | 2.22 |
| 96 | Jansen-de vries syndrome | Enrichment | PPM1D | 2.22 |
| 97 | Leiomyosarcoma | Enrichment | CHEK2 | 2.22 |
| 98 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 | Enrichment | TOP3A | 2.22 |
| 99 | Rectal benign neoplasm | Enrichment | MSH2 | 2.22 |
| 100 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.22 |
| 101 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | Enrichment | BRCC3 | 2.22 |
| 102 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.22 |
| 103 | B-lymphoblastic leukemia/lymphoma with etv6-runx1 | Enrichment | RECQL4 | 2.22 |
| 104 | Ascending colon cancer | Enrichment | MSH2 | 2.22 |
| 105 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.22 |
| 106 | Oocyte/zygote/embryo maturation arrest 21 | Enrichment | CHEK1 | 2.22 |
| 107 | Basal cell carcinoma | Enrichment | PALB2 | 2.22 |
| 108 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.22 |
| 109 | Choroid plexus cancer | Enrichment | TP53 | 2.22 |
| 110 | Ovarian cyst | Enrichment | MSH2 | 2.22 |
| 111 | Undifferentiated pleomorphic sarcoma | Enrichment | RECQL4 | 2.22 |
| 112 | Wilms tumor 7 | Enrichment | TRIM28 | 2.22 |
| 113 | Malignant fibrous histiocytoma | Enrichment | RECQL4 | 2.22 |
| 114 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.22 |
| 115 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 2.22 |
| 116 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.22 |
| 117 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.92 |
| 118 | Baller-gerold syndrome | Enrichment | RECQL4 | 1.92 |
| 119 | Skin/hair/eye pigmentation, variation in, 1 | Enrichment | HERC2 | 1.92 |
| 120 | Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism | Enrichment | BRCC3 | 1.92 |
| 121 | Cervical cancer | Enrichment | TP53 | 1.92 |
| 122 | Cornelia de lange syndrome 2 | Enrichment | SMC1A | 1.92 |
| 123 | Immunodeficiency 33 | Enrichment | IKBKG | 1.92 |
| 124 | Rothmund-thomson syndrome, type 2 | Enrichment | RECQL4 | 1.92 |
| 125 | Fanconi anemia, complementation group i | Enrichment | FANCI | 1.92 |
| 126 | Fanconi anemia, complementation group n | Enrichment | PALB2 | 1.92 |
| 127 | Pancreatic cancer 3 | Enrichment | PALB2 | 1.92 |
| 128 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.92 |
| 129 | Congenital heart defects, multiple types, 3 | Enrichment | CHEK2 | 1.92 |
| 130 | Xeroderma pigmentosum, complementation group a | Enrichment | XPA | 1.92 |
| 131 | Coffin-siris syndrome 8 | Enrichment | SMARCC2 | 1.92 |
| 132 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 1.92 |
| 133 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 1.92 |
| 134 | Werner syndrome | Enrichment | WRN | 1.92 |
| 135 | Intravascular large b-cell lymphoma | Enrichment | BCL6 | 1.92 |
| 136 | Pancreatic cancer 4 | Enrichment | BRCA1 | 1.92 |
| 137 | Ovarian cancer 1 | Enrichment | BRIP1 | 1.92 |
| 138 | Microcephaly and chorioretinopathy, autosomal recessive, 3 | Enrichment | TP53BP1 | 1.92 |
| 139 | Congenital fibrosarcoma | Enrichment | TP53 | 1.92 |
| 140 | High grade glioma | Enrichment | ATM | 1.92 |
| 141 | Fanconi anemia, complementation group d1 | Enrichment | BRCA2 | 1.92 |
| 142 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG | 1.92 |
| 143 | Cervix carcinoma | Enrichment | TP53 | 1.92 |
| 144 | Hodgkin's lymphoma | Enrichment | TP53 | 1.92 |
| 145 | T-cell prolymphocytic leukemia | Enrichment | ATM | 1.92 |
| 146 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 1.92 |
| 147 | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | Enrichment | TOP3A | 1.92 |
| 148 | Lymphatic malformation 10 | Enrichment | MCPH1 | 1.92 |
| 149 | Peritoneum cancer | Enrichment | BRCA1 | 1.92 |
| 150 | Microcephaly and chorioretinopathy 3 | Enrichment | TP53BP1 | 1.92 |
| 151 | Primary mediastinal large b-cell lymphoma | Enrichment | BCL6 | 1.92 |
| 152 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.92 |
| 153 | Right atrial isomerism | Enrichment | UPF1 | 1.75 |
| 154 | Ataxia-telangiectasia | Enrichment | ATM | 1.75 |
| 155 | Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations | Enrichment | ATRIP | 1.75 |
| 156 | Nijmegen breakage syndrome | Enrichment | NBN | 1.75 |
| 157 | Polycythemia vera | Enrichment | ATM | 1.75 |
| 158 | Chilblain lupus 1 | Enrichment | ATRIP | 1.75 |
| 159 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.75 |
| 160 | Congenital heart defects, multiple types, 6 | Enrichment | UPF1 | 1.75 |
| 161 | Tumor predisposition syndrome 1 | Enrichment | BRCA2 | 1.75 |
| 162 | Breast-ovarian cancer, familial 5 | Enrichment | PALB2 | 1.75 |
| 163 | Koolen-de vries syndrome | Enrichment | ATM | 1.75 |
| 164 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL6 | 1.75 |
| 165 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 1.75 |
| 166 | Chilblain lupus | Enrichment | ATRIP | 1.75 |
| 167 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.75 |
| 168 | Anaplastic astrocytoma | Enrichment | TP53 | 1.75 |
| 169 | Squamous cell carcinoma | Enrichment | TP53 | 1.75 |
| 170 | Cellular ependymoma | Enrichment | MSH2 | 1.75 |
| 171 | Tanycytic ependymoma | Enrichment | MSH2 | 1.75 |
| 172 | Papillary ependymoma | Enrichment | MSH2 | 1.75 |
| 173 | Bap1 tumor predisposition syndrome | Enrichment | BRCA2 | 1.75 |
| 174 | Well-differentiated liposarcoma | Enrichment | MDM2 | 1.75 |
| 175 | Clear cell ependymoma | Enrichment | MSH2 | 1.75 |
| 176 | Mirror movements 1 | Enrichment | RAD51 | 1.63 |
| 177 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Enrichment | MRE11 | 1.63 |
| 178 | Small cell cancer of the lung | Enrichment | TP53 | 1.63 |
| 179 | Erythrocytosis, familial, 2 | Enrichment | FANCD2 | 1.63 |
| 180 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.63 |
| 181 | Aicardi-goutieres syndrome 1 | Enrichment | ATRIP | 1.63 |
| 182 | Lynch syndrome 4 | Enrichment | MSH2 | 1.63 |
| 183 | Mantle cell lymphoma | Enrichment | ATM | 1.63 |
| 184 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.63 |
| 185 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.63 |
| 186 | Hemoglobin c disease | Enrichment | CHEK2 | 1.63 |
| 187 | Autosomal recessive chorioretinopathy-microcephaly syndrome | Enrichment | TP53BP1 | 1.63 |
| 188 | Transposition of the great arteries | Enrichment | UPF1 | 1.63 |
| 189 | Benign ependymoma | Enrichment | MSH2 | 1.63 |
| 190 | Thrombotic microangiopathy | Enrichment | ATRIP | 1.63 |
| 191 | Oculomotor apraxia | Enrichment | ATM | 1.63 |
| 192 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | CHEK1 | 1.63 |
| 193 | Leukemia, acute myeloid | Enrichment | FANCD2, TP53 | 1.62 |
| 194 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Enrichment | ATRIP | 1.53 |
| 195 | Von hippel-lindau syndrome | Enrichment | FANCD2 | 1.53 |
| 196 | Microcephaly 1, primary, autosomal recessive | Enrichment | MCPH1 | 1.53 |
| 197 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.53 |
| 198 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.53 |
| 199 | Atrioventricular septal defect | Enrichment | SMARCAL1 | 1.53 |
| 200 | Follicular lymphoma | Enrichment | BCL6 | 1.53 |
| 201 | Lymphoma | Enrichment | TP53 | 1.53 |
| 202 | Vascular dementia | Enrichment | ATRIP | 1.53 |
| 203 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.53 |
| 204 | Kabuki syndrome 1 | Enrichment | BRCA2 | 1.45 |
| 205 | Wiedemann-steiner syndrome | Enrichment | SMC1A | 1.45 |
| 206 | Adrenocortical carcinoma | Enrichment | TP53 | 1.45 |
| 207 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.45 |
| 208 | Breast adenocarcinoma | Enrichment | TP53 | 1.45 |
| 209 | Microcephaly | Enrichment | NBN, SMARCAL1, SMC1A | 1.43 |
| 210 | Esophageal cancer | Enrichment | TP53 | 1.39 |
| 211 | Prader-willi syndrome | Enrichment | HERC2 | 1.39 |
| 212 | Mitochondrial dna depletion syndrome 4a | Enrichment | FANCI | 1.39 |
| 213 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.39 |
| 214 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.39 |
| 215 | Essential thrombocythemia | Enrichment | TP53 | 1.39 |
| 216 | Gallbladder cancer | Enrichment | TP53 | 1.39 |
| 217 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.39 |
| 218 | Glioma susceptibility 1 | Enrichment | TP53 | 1.33 |
| 219 | Isolated growth hormone deficiency, type ia | Enrichment | BRCA2 | 1.33 |
| 220 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.33 |
| 221 | Rett syndrome, congenital variant | Enrichment | SMC1A | 1.33 |
| 222 | Isolated split hand-split foot malformation | Enrichment | SEM1 | 1.33 |
| 223 | Cornelia de lange syndrome 1 | Enrichment | SMC1A | 1.28 |
| 224 | Polydactyly | Enrichment | BRCA2 | 1.28 |
| 225 | Coronary heart disease 5 | Enrichment | IKBKG | 1.28 |
| 226 | Leukemia, acute lymphoblastic 3 | Enrichment | PALB2 | 1.28 |
| 227 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.28 |
| 228 | Primary hyperaldosteronism | Enrichment | TP53 | 1.28 |
| 229 | Cornelia de lange syndrome | Enrichment | SMC1A | 1.28 |
| 230 | Meier-gorlin syndrome 1 | Enrichment | CDC45 | 1.24 |
| 231 | Aplastic anemia | Enrichment | NBN | 1.24 |
| 232 | Aicardi-goutieres syndrome | Enrichment | ATRIP | 1.24 |
| 233 | Melanoma | Enrichment | CHEK2 | 1.24 |
| 234 | Immune deficiency disease | Enrichment | ATM | 1.20 |
| 235 | Xeroderma pigmentosum, variant type | Enrichment | XPA | 1.20 |
| 236 | Leukemia, acute lymphoblastic | Enrichment | NBN | 1.20 |
| 237 | Myelodysplastic syndrome | Enrichment | TP53 | 1.20 |
| 238 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.16 |
| 239 | Senior-loken syndrome 1 | Enrichment | CEP164 | 1.13 |
| 240 | Acute promyelocytic leukemia | Enrichment | PML | 1.13 |
| 241 | Premature menopause | Enrichment | NBN | 1.13 |
| 242 | Nk-cell enteropathy | Enrichment | CHEK2 | 1.13 |
| 243 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.09 |
| 244 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.09 |
| 245 | Heart disease | Enrichment | RECQL4 | 1.09 |
| 246 | Cataract | Enrichment | WRN | 1.09 |
| 247 | Pituitary stalk interruption syndrome | Enrichment | FANCA | 1.09 |
| 248 | Coffin-siris syndrome 1 | Enrichment | SMARCC2 | 1.07 |
| 249 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.07 |
| 250 | Atypical hemolytic-uremic syndrome | Enrichment | SMARCAL1 | 1.07 |
| 251 | Semilobar holoprosencephaly | Enrichment | SMC1A | 0.99 |
| 252 | Focal segmental glomerulosclerosis | Enrichment | SMARCAL1 | 0.95 |
| 253 | Lissencephaly | Enrichment | NBN | 0.93 |
| 254 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.89 |
| 255 | Malaria | Enrichment | IKBKG | 0.89 |
| 256 | Congenital nervous system abnormality | Enrichment | MCPH1, SMC1A | 0.88 |
| 257 | Nervous system disease | Enrichment | MCPH1, SMC1A | 0.88 |
| 258 | Strabismus | Enrichment | UPF1 | 0.83 |
| 259 | Severe covid-19 | Enrichment | RECQL4 | 0.80 |
| 260 | Primary autosomal recessive microcephaly | Enrichment | MCPH1 | 0.76 |
| 261 | Diamond-blackfan anemia | Enrichment | TP53 | 0.71 |
| 262 | Systemic lupus erythematosus | Enrichment | ATRIP | 0.68 |
| 263 | Cerebral palsy | Enrichment | BRCA2 | 0.68 |
| 264 | Type 2 diabetes mellitus | Enrichment | WRN | 0.65 |
| 265 | Nephrotic syndrome | Enrichment | SMARCAL1 | 0.64 |
| 266 | Autosomal dominant non-syndromic intellectual disability | Enrichment | PPM1D | 0.59 |
| 267 | Hypertelorism | Enrichment | UPF1 | 0.57 |
| 268 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MCM2 | 0.57 |
| 269 | Mitochondrial disease | Enrichment | TOP3A | 0.39 |
| 270 | Hereditary retinal dystrophy | Enrichment | ATRIP, CEP164 | 0.28 |
| 271 | Fundus dystrophy | Enrichment | ATRIP, CEP164 | 0.28 |
| 272 | Complex neurodevelopmental disorder | Enrichment | UPF1 | 0.28 |