| 1 | Breast cancer | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, MRE11, NBN, PALB2, RAD50, RAD51, RAD51C, RAD51D, XRCC2, XRCC3 | 16.00 |
| 2 | Ovarian cancer | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, MRE11, NBN, PALB2, RAD50, RAD51C, RAD51D, WRN | 16.00 |
| 3 | Pancreatic cancer | Enrichment | ATM, BRCA1, BRCA2, BRIP1, NBN, PALB2, RBBP8 | 16.00 |
| 4 | Gastric cancer | Enrichment | ATM, BARD1, BRCA1, BRCA2, BRIP1, NBN, PALB2, RAD51C, RAD51D | 16.00 |
| 5 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, MRE11, NBN, PALB2, RAD50, RAD51, RAD51B, RAD51C, RAD51D, XRCC2 | 16.00 |
| 6 | Colorectal cancer | Enrichment | ATM, BLM, BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, RAD51D, RMI1 | 16.00 |
| 7 | Lynch syndrome 1 | Enrichment | ATM, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51D | 16.00 |
| 8 | Prostate cancer | Enrichment | ATM, BRCA1, BRCA2, MSH6, NBN, PALB2, RAD51D | 16.00 |
| 9 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1, BRCA2, BRIP1, MSH2, NBN, PALB2, RAD51C, RAD51D | 16.00 |
| 10 | Endometrial cancer | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, MLH1, MSH2, MSH3, MSH6, MUTYH, PMS2, RAD51C | 16.00 |
| 11 | Hereditary breast carcinoma | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, RAD50, RAD51, RAD51D | 16.00 |
| 12 | Uterine corpus cancer | Enrichment | ATM, BRCA1, BRCA2, BRIP1, MSH2, MSH6, PALB2, RAD51C | 16.00 |
| 13 | Fanconi anemia, complementation group a | Enrichment | BRCA1, BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, UBE2T | 16.00 |
| 14 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, MRE11, NBN, RAD50, RAD51B, RAD51C, RAD51D, XRCC2 | 11.18 |
| 15 | Colonic benign neoplasm | Enrichment | ATM, MLH1, MRE11, MUTYH, PALB2 | 10.09 |
| 16 | Mismatch repair cancer syndrome 1 | Enrichment | MLH1, MSH2, MSH6, PMS2 | 9.72 |
| 17 | Rhabdomyosarcoma | Enrichment | BRCA1, BRCA2, MSH2, MSH6, PMS2 | 8.59 |
| 18 | Seckel syndrome | Enrichment | ATR, ATRIP, DNA2, RBBP8 | 7.44 |
| 19 | Lynch syndrome 4 | Enrichment | MSH2, MSH6, PMS2 | 6.70 |
| 20 | Familial colorectal cancer type x | Enrichment | ATM, BRCA2, POLD1, POLE | 6.68 |
| 21 | Lynch syndrome | Enrichment | MLH1, MSH2, MSH6, PMS2 | 6.63 |
| 22 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1, BRCA2, PMS2 | 6.30 |
| 23 | Familial colorectal cancer | Enrichment | MLH1, MSH2, MUTYH | 5.23 |
| 24 | Diffuse midline glioma, h3 k27m-mutant | Enrichment | BRCA2, BRIP1 | 5.19 |
| 25 | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | Enrichment | RMI2, TOP3A | 5.19 |
| 26 | Inflammatory breast carcinoma | Enrichment | BRCA1, BRCA2 | 5.19 |
| 27 | Bilateral breast cancer | Enrichment | BRCA1, BRCA2 | 5.19 |
| 28 | Neuroendocrine tumor of pancreas | Enrichment | BRCA2, PALB2 | 5.05 |
| 29 | Muir-torre syndrome | Enrichment | MLH1, MSH2 | 4.86 |
| 30 | Hereditary site-specific ovarian cancer syndrome | Enrichment | RAD51C, RAD51D | 4.60 |
| 31 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1, BRCA2 | 4.41 |
| 32 | Cholangiocarcinoma | Enrichment | BRCA1, BRCA2 | 4.41 |
| 33 | Nijmegen breakage syndrome-like disorder | Enrichment | MRE11, RAD50 | 4.41 |
| 34 | Diffuse large b-cell lymphoma | Enrichment | BRCA2, NBN, PMS2 | 4.33 |
| 35 | Chordoma | Enrichment | BRCA2, PALB2 | 4.27 |
| 36 | Bladder cancer | Enrichment | ATM, BRCA1, BRCA2 | 4.26 |
| 37 | Hepatoblastoma | Enrichment | BARD1, BRCA2, MSH2 | 4.20 |
| 38 | Hepatocellular carcinoma | Enrichment | NBN, PMS2, RAD50 | 4.13 |
| 39 | Polymerase proofreading-related polyposis | Enrichment | POLD1, POLE | 4.11 |
| 40 | Fanconi anemia, complementation group d2 | Enrichment | BRIP1, FANCD2 | 3.93 |
| 41 | Glioblastoma | Enrichment | ATM, MSH2 | 3.86 |
| 42 | Congenital disorder of deglycosylation 2 | Enrichment | NEIL1 | 3.83 |
| 43 | Isolated growth hormone deficiency, type ia | Enrichment | BRCA2, DNA2 | 3.75 |
| 44 | Clear cell renal cell carcinoma | Enrichment | ATM, OGG1 | 3.69 |
| 45 | Lung cancer | Enrichment | BRCA1, MLH1, PALB2 | 3.64 |
| 46 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | BRCA2, BRIP1 | 3.64 |
| 47 | Fanconi anemia, complementation group c | Enrichment | DCLRE1B, FANCC | 3.63 |
| 48 | Isolated tracheo-esophageal fistula | Enrichment | BRCA2, BRIP1 | 3.54 |
| 49 | Familial adenomatous polyposis 3 | Enrichment | NTHL1 | 3.43 |
| 50 | Myeloma, multiple | Enrichment | ATM, BARD1, BRCA2 | 3.40 |
| 51 | Premature menopause | Enrichment | ERCC1, NBN | 3.26 |
| 52 | Medulloblastoma | Enrichment | BRCA2, WRN | 3.24 |
| 53 | Familial adenomatous polyposis 2 | Enrichment | MUTYH | 3.13 |
| 54 | Pituitary stalk interruption syndrome | Enrichment | FANCA, FANCG | 3.12 |
| 55 | Esophageal atresia/tracheoesophageal fistula | Enrichment | BRCA2, BRIP1 | 2.97 |
| 56 | Spastic paraplegia 7, autosomal recessive | Enrichment | MUTYH | 2.96 |
| 57 | Renal cell carcinoma, nonpapillary | Enrichment | ATM, OGG1 | 2.85 |
| 58 | Pilomatrixoma | Enrichment | MUTYH | 2.83 |
| 59 | Gliosarcoma | Enrichment | ATM, MSH2 | 2.79 |
| 60 | Giant cell glioblastoma | Enrichment | ATM, MSH2 | 2.74 |
| 61 | Familial adenomatous polyposis 1 | Enrichment | MUTYH | 2.73 |
| 62 | Hereditary clear cell renal cell carcinoma | Enrichment | OGG1 | 2.59 |
| 63 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.59 |
| 64 | Bloom syndrome | Enrichment | BLM | 2.59 |
| 65 | Seckel syndrome 2 | Enrichment | RBBP8 | 2.59 |
| 66 | Fanconi anemia, complementation group j | Enrichment | BRIP1 | 2.59 |
| 67 | Glioma susceptibility 3 | Enrichment | BRCA2 | 2.59 |
| 68 | Seckel syndrome 1 | Enrichment | ATR | 2.59 |
| 69 | Mirror movements 2 | Enrichment | RAD51 | 2.59 |
| 70 | Seckel syndrome 8 | Enrichment | DNA2 | 2.59 |
| 71 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6 | Enrichment | RPA1 | 2.59 |
| 72 | Fanconi anemia, complementation group r | Enrichment | RAD51 | 2.59 |
| 73 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 | Enrichment | DNA2 | 2.59 |
| 74 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.59 |
| 75 | Pancreatic cancer 2 | Enrichment | BRCA2 | 2.59 |
| 76 | Jawad syndrome | Enrichment | RBBP8 | 2.59 |
| 77 | Ataxia-telangiectasia-like disorder 1 | Enrichment | MRE11 | 2.59 |
| 78 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 2.59 |
| 79 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.59 |
| 80 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 | Enrichment | TOP3A | 2.59 |
| 81 | Rothmund-thomson syndrome, type 4 | Enrichment | DNA2 | 2.59 |
| 82 | Morimoto-ryu-malicdan neuromuscular syndrome | Enrichment | RFC4 | 2.59 |
| 83 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.59 |
| 84 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 2.59 |
| 85 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.59 |
| 86 | Cerebrooculofacioskeletal syndrome 4 | Enrichment | ERCC1 | 2.56 |
| 87 | Xfe progeroid syndrome | Enrichment | ERCC4 | 2.56 |
| 88 | Fanconi anemia, complementation group p | Enrichment | SLX4 | 2.53 |
| 89 | Fanconi anemia, complementation group t | Enrichment | UBE2T | 2.53 |
| 90 | Fanconi anemia, complementation group g | Enrichment | FANCG | 2.53 |
| 91 | Fanconi anemia, complementation group b | Enrichment | FANCB | 2.53 |
| 92 | Spermatogenic failure 28 | Enrichment | FANCM | 2.53 |
| 93 | Premature ovarian failure 15 | Enrichment | FANCM | 2.53 |
| 94 | Dyskeratosis congenita, autosomal recessive 8 | Enrichment | DCLRE1B | 2.53 |
| 95 | Fanconi anemia, complementation group l | Enrichment | FANCL | 2.53 |
| 96 | Autosomal recessive spastic paraplegia type 60 | Enrichment | WDR48 | 2.53 |
| 97 | Fanconi anemia, complementation group x | Enrichment | FAAP100 | 2.53 |
| 98 | Fanconi anemia, complementation group u | Enrichment | XRCC2 | 2.53 |
| 99 | Premature ovarian failure 17 | Enrichment | XRCC2 | 2.53 |
| 100 | Spermatogenic failure 50 | Enrichment | XRCC2 | 2.53 |
| 101 | Oocyte/zygote/embryo maturation arrest 21 | Enrichment | CHEK1 | 2.53 |
| 102 | Basal cell carcinoma | Enrichment | PALB2 | 2.52 |
| 103 | Lynch syndrome 2 | Enrichment | MLH1 | 2.42 |
| 104 | Mismatch repair cancer syndrome 2 | Enrichment | MSH2 | 2.42 |
| 105 | Mismatch repair cancer syndrome 4 | Enrichment | PMS2 | 2.42 |
| 106 | Rectal benign neoplasm | Enrichment | MSH2 | 2.42 |
| 107 | Pituitary cancer | Enrichment | PMS2 | 2.42 |
| 108 | Ascending colon cancer | Enrichment | MSH2 | 2.42 |
| 109 | Ovarian cyst | Enrichment | MSH2 | 2.42 |
| 110 | Rothmund-thomson syndrome, type 2 | Enrichment | DNA2 | 2.29 |
| 111 | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | Enrichment | KAT5 | 2.29 |
| 112 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.29 |
| 113 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.29 |
| 114 | Werner syndrome | Enrichment | WRN | 2.29 |
| 115 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.29 |
| 116 | Ovarian cancer 1 | Enrichment | BRIP1 | 2.29 |
| 117 | High grade glioma | Enrichment | ATM | 2.29 |
| 118 | Fanconi anemia, complementation group d1 | Enrichment | BRCA2 | 2.29 |
| 119 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.29 |
| 120 | Peritoneum cancer | Enrichment | BRCA1 | 2.29 |
| 121 | Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual development | Enrichment | POLE | 2.29 |
| 122 | Colorectal cancer 10 | Enrichment | POLD1 | 2.29 |
| 123 | Colorectal cancer 12 | Enrichment | POLE | 2.29 |
| 124 | Immunodeficiency 120 | Enrichment | POLD1 | 2.29 |
| 125 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | Enrichment | POLD1 | 2.29 |
| 126 | Ataxia-telangiectasia-like disorder 2 | Enrichment | PCNA | 2.29 |
| 127 | Ovarian dysgenesis 9 | Enrichment | SPIDR | 2.29 |
| 128 | Immunodeficiency 122 | Enrichment | POLD3 | 2.29 |
| 129 | Xeroderma pigmentosum, complementation group f | Enrichment | ERCC4 | 2.26 |
| 130 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.26 |
| 131 | Fanconi anemia, complementation group q | Enrichment | ERCC4 | 2.26 |
| 132 | Xeroderma pigmentosum group f | Enrichment | ERCC4 | 2.26 |
| 133 | Ovarian germ cell cancer | Enrichment | FANCM | 2.23 |
| 134 | Vacterl association, x-linked, with or without hydrocephalus | Enrichment | FANCL | 2.23 |
| 135 | Fanconi anemia, complementation group i | Enrichment | FANCI | 2.23 |
| 136 | Interstitial nephritis, karyomegalic | Enrichment | FAN1 | 2.23 |
| 137 | Intellectual developmental disorder, x-linked, syndromic, pilorge type | Enrichment | FANCB | 2.23 |
| 138 | Fanconi anemia, complementation group e | Enrichment | FANCE | 2.23 |
| 139 | Vacterl with hydrocephalus | Enrichment | FANCB | 2.23 |
| 140 | Malignant germ cell tumor of ovary | Enrichment | FANCM | 2.23 |
| 141 | Submucosal cleft palate | Enrichment | UBB | 2.23 |
| 142 | Cleft hard palate | Enrichment | UBB | 2.23 |
| 143 | Short stature, microcephaly, and endocrine dysfunction | Enrichment | XRCC2 | 2.23 |
| 144 | Fanconi anemia, complementation group n | Enrichment | PALB2 | 2.22 |
| 145 | Pancreatic cancer 3 | Enrichment | PALB2 | 2.22 |
| 146 | Melanoma, cutaneous malignant 6 | Enrichment | XRCC3 | 2.20 |
| 147 | Burkitt lymphoma | Enrichment | PMS2 | 2.12 |
| 148 | Mismatch repair cancer syndrome 3 | Enrichment | MSH6 | 2.12 |
| 149 | Ataxia-telangiectasia | Enrichment | ATM | 2.11 |
| 150 | Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations | Enrichment | ATRIP | 2.11 |
| 151 | Nijmegen breakage syndrome | Enrichment | NBN | 2.11 |
| 152 | Polycythemia vera | Enrichment | ATM | 2.11 |
| 153 | Chilblain lupus 1 | Enrichment | ATRIP | 2.11 |
| 154 | Tumor predisposition syndrome 1 | Enrichment | BRCA2 | 2.11 |
| 155 | Koolen-de vries syndrome | Enrichment | ATM | 2.11 |
| 156 | Chilblain lupus | Enrichment | ATRIP | 2.11 |
| 157 | Adenocarcinoma | Enrichment | ATM | 2.11 |
| 158 | Bap1 tumor predisposition syndrome | Enrichment | BRCA2 | 2.11 |
| 159 | Childhood apraxia of speech | Enrichment | RFC3 | 2.11 |
| 160 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 2.09 |
| 161 | Retinoblastoma | Enrichment | FANCM | 2.05 |
| 162 | Uvula, bifid | Enrichment | UBB | 2.05 |
| 163 | Cleft soft palate | Enrichment | UBB | 2.05 |
| 164 | Fanconi anemia, complementation group f | Enrichment | FANCF | 2.05 |
| 165 | Cutis laxa, autosomal recessive, type ib | Enrichment | MUS81 | 2.05 |
| 166 | Breast-ovarian cancer, familial 3 | Enrichment | RAD51C | 2.05 |
| 167 | Breast-ovarian cancer, familial 4 | Enrichment | RAD51D | 2.05 |
| 168 | Fanconi anemia, complementation group o | Enrichment | RAD51C | 2.05 |
| 169 | Breast-ovarian cancer, familial 5 | Enrichment | PALB2 | 2.04 |
| 170 | Mirror movements 1 | Enrichment | RAD51 | 1.99 |
| 171 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Enrichment | MRE11 | 1.99 |
| 172 | Aicardi-goutieres syndrome 1 | Enrichment | ATRIP | 1.99 |
| 173 | Mantle cell lymphoma | Enrichment | ATM | 1.99 |
| 174 | Thrombotic microangiopathy | Enrichment | ATRIP | 1.99 |
| 175 | Oculomotor apraxia | Enrichment | ATM | 1.99 |
| 176 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies | Enrichment | POLE | 1.99 |
| 177 | Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies | Enrichment | POLK | 1.99 |
| 178 | Dyskeratosis congenita, autosomal recessive 5 | Enrichment | RTEL1 | 1.99 |
| 179 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | Enrichment | RFC1 | 1.99 |
| 180 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | Enrichment | POLE | 1.99 |
| 181 | Autosomal dominant dyskeratosis congenita 4 | Enrichment | RTEL1 | 1.99 |
| 182 | Facial dysmorphism, immunodeficiency, livedo, and short stature | Enrichment | POLE | 1.99 |
| 183 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 | Enrichment | RTEL1 | 1.99 |
| 184 | Hutchinson-gilford progeria syndrome | Enrichment | ERCC4 | 1.96 |
| 185 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 1.96 |
| 186 | Primary ovarian insufficiency | Enrichment | ERCC1, NBN | 1.95 |
| 187 | Lynch syndrome 5 | Enrichment | MSH6 | 1.95 |
| 188 | Familial adenomatous polyposis 4 | Enrichment | MSH3 | 1.95 |
| 189 | Cellular ependymoma | Enrichment | MSH2 | 1.95 |
| 190 | Tanycytic ependymoma | Enrichment | MSH2 | 1.95 |
| 191 | Papillary ependymoma | Enrichment | MSH2 | 1.95 |
| 192 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | Enrichment | MSH6 | 1.95 |
| 193 | Colon adenocarcinoma | Enrichment | MSH6 | 1.95 |
| 194 | Clear cell ependymoma | Enrichment | MSH2 | 1.95 |
| 195 | Erythrocytosis, familial, 2 | Enrichment | FANCD2 | 1.93 |
| 196 | Spastic paraplegia 47, autosomal recessive | Enrichment | DCLRE1B | 1.93 |
| 197 | Combined oxidative phosphorylation deficiency 32 | Enrichment | EME2 | 1.93 |
| 198 | Vacterl association | Enrichment | FANCL | 1.93 |
| 199 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | CHEK1 | 1.93 |
| 200 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Enrichment | ATRIP | 1.89 |
| 201 | Vascular dementia | Enrichment | ATRIP | 1.89 |
| 202 | Cockayne syndrome a | Enrichment | ERCC4 | 1.87 |
| 203 | Autosomal recessive cerebellar ataxia | Enrichment | ERCC4 | 1.87 |
| 204 | Xeroderma pigmentosum-cockayne syndrome complex | Enrichment | ERCC4 | 1.87 |
| 205 | Vater/vacterl association | Enrichment | FANCL | 1.83 |
| 206 | Von hippel-lindau syndrome | Enrichment | FANCD2 | 1.83 |
| 207 | Gaucher disease, type i | Enrichment | MSH6 | 1.83 |
| 208 | Benign ependymoma | Enrichment | MSH2 | 1.83 |
| 209 | Kabuki syndrome 1 | Enrichment | BRCA2 | 1.81 |
| 210 | Dyskeratosis congenita, x-linked | Enrichment | RTEL1 | 1.81 |
| 211 | Cockayne syndrome b | Enrichment | ERCC1 | 1.79 |
| 212 | Cerebrooculofacioskeletal syndrome 1 | Enrichment | ERCC1 | 1.79 |
| 213 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.75 |
| 214 | Lymphoma | Enrichment | PMS2 | 1.73 |
| 215 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.72 |
| 216 | Cockayne syndrome | Enrichment | ERCC4 | 1.72 |
| 217 | Moyamoya angiopathy | Enrichment | ABL1 | 1.72 |
| 218 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1 | 1.72 |
| 219 | Isolated split hand-split foot malformation | Enrichment | SEM1 | 1.69 |
| 220 | Mitochondrial dna depletion syndrome 4a | Enrichment | FANCI | 1.69 |
| 221 | Epilepsy, progressive myoclonic, 4, with or without renal failure | Enrichment | RTEL1 | 1.69 |
| 222 | Combined oxidative phosphorylation deficiency 24 | Enrichment | RTEL1 | 1.69 |
| 223 | Polydactyly | Enrichment | BRCA2 | 1.64 |
| 224 | Leukemia, acute lymphoblastic 3 | Enrichment | ERCC4 | 1.61 |
| 225 | Leukemia, chronic lymphocytic | Enrichment | ATM | 1.59 |
| 226 | Aplastic anemia | Enrichment | NBN | 1.59 |
| 227 | Aicardi-goutieres syndrome | Enrichment | ATRIP | 1.59 |
| 228 | Immune deficiency disease | Enrichment | ATM | 1.55 |
| 229 | Leukemia, acute lymphoblastic | Enrichment | NBN | 1.55 |
| 230 | Xeroderma pigmentosum, variant type | Enrichment | ERCC4 | 1.53 |
| 231 | Pulmonary fibrosis | Enrichment | RTEL1 | 1.51 |
| 232 | Hoyeraal-hreidarsson syndrome | Enrichment | RTEL1 | 1.51 |
| 233 | Lip and oral cavity carcinoma | Enrichment | ABL1 | 1.49 |
| 234 | Neural tube defects | Enrichment | RAD9B | 1.48 |
| 235 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.45 |
| 236 | Cataract | Enrichment | WRN | 1.45 |
| 237 | Heart disease | Enrichment | ABL1 | 1.43 |
| 238 | Wilms tumor 1 | Enrichment | BRCA2 | 1.42 |
| 239 | Cardiomyopathy, familial hypertrophic, 9 | Enrichment | PMS2 | 1.39 |
| 240 | Male infertility with spermatogenesis disorder | Enrichment | FANCM | 1.36 |
| 241 | Microcephaly | Enrichment | ABL1, NBN | 1.35 |
| 242 | Williams-beuren syndrome | Enrichment | RFC2 | 1.30 |
| 243 | Lissencephaly | Enrichment | NBN | 1.28 |
| 244 | Combined immunodeficiency | Enrichment | POLD1 | 1.26 |
| 245 | Combined t cell and b cell immunodeficiency | Enrichment | POLD1 | 1.26 |
| 246 | Combined t and b cell immunodeficiency | Enrichment | POLD1 | 1.26 |
| 247 | Azoospermia | Enrichment | FANCM | 1.24 |
| 248 | 46 xx gonadal dysgenesis | Enrichment | SPIDR | 1.22 |
| 249 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.22 |
| 250 | Cardiomyopathy, dilated, 1g | Enrichment | PMS2 | 1.10 |
| 251 | Interstitial lung disease 2 | Enrichment | RTEL1 | 1.07 |
| 252 | Parkinson's disease | Enrichment | RFC1 | 1.03 |
| 253 | Dyskeratosis congenita | Enrichment | RTEL1 | 1.03 |
| 254 | Systemic lupus erythematosus | Enrichment | ATRIP | 1.02 |
| 255 | Cerebral palsy | Enrichment | BRCA2 | 1.02 |
| 256 | Type 2 diabetes mellitus | Enrichment | WRN | 0.99 |
| 257 | Leukemia, acute myeloid | Enrichment | FANCD2 | 0.95 |
| 258 | Parkinson disease, late-onset | Enrichment | RFC1 | 0.93 |
| 259 | Spastic ataxia | Enrichment | ERCC4 | 0.87 |
| 260 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FANCM | 0.82 |
| 261 | Leigh syndrome, nuclear | Enrichment | EME2 | 0.73 |
| 262 | Leigh disease | Enrichment | EME2 | 0.70 |
| 263 | Mitochondrial disease | Enrichment | TOP3A | 0.69 |
| 264 | Hereditary retinal dystrophy | Enrichment | ATRIP | 0.27 |
| 265 | Fundus dystrophy | Enrichment | ATRIP | 0.27 |