| 1 | Breast cancer | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, CHEK2, FANCC, MRE11, MSH2, MSH6, NBN, RAD50, RAD51, TP53 | 16.00 |
| 2 | Ovarian cancer | Enrichment | ATM, BARD1, BRCA1, BRCA2, FANCA, FANCC, FANCD2, FANCE, FANCG, MRE11, NBN, RAD50 | 16.00 |
| 3 | Hereditary breast carcinoma | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, CHEK2, MSH2, MSH6, NBN, RAD50, RAD51, TP53 | 13.03 |
| 4 | Gastric cancer | Enrichment | ATM, BARD1, BRCA1, BRCA2, CHEK2, MSH2, MSH6, NBN, TP53 | 10.99 |
| 5 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, CHEK2, FANCA, FANCC, MRE11, MSH2, MSH6, NBN, RAD50, RB1, SMARCA4, SMARCB1, TP53 | 10.96 |
| 6 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BARD1, BRCA1, BRCA2, MRE11, NBN, RAD50, RAD51 | 10.94 |
| 7 | Pancreatic cancer | Enrichment | ATM, BRCA1, BRCA2, CHEK2, FANCE, FANCG, NBN, RBBP8, TP53 | 10.83 |
| 8 | Uterine corpus cancer | Enrichment | ATM, BRCA1, BRCA2, CHEK2, MSH2, MSH6 | 10.82 |
| 9 | Fanconi anemia, complementation group a | Enrichment | BRCA1, BRCA2, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCL, RAD51 | 10.63 |
| 10 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1, BRCA2, CHEK2, MSH2, NBN | 10.55 |
| 11 | Endometrial cancer | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, CHEK2, MSH2, MSH6 | 10.53 |
| 12 | Colorectal cancer | Enrichment | ATM, BLM, BRCA1, BRCA2, CHEK2, FANCC, FANCE, MSH2, MSH6, TP53 | 10.48 |
| 13 | Prostate cancer | Enrichment | ATM, BRCA1, BRCA2, CHEK2, MSH6, NBN, TP53 | 10.20 |
| 14 | Rhabdomyosarcoma | Enrichment | BRCA1, BRCA2, MSH2, MSH6, TP53 | 8.11 |
| 15 | Hepatoblastoma | Enrichment | BARD1, BRCA2, FANCA, MSH2, TP53 | 7.45 |
| 16 | Lynch syndrome 1 | Enrichment | ATM, CHEK2, MSH2, MSH6 | 7.06 |
| 17 | Osteogenic sarcoma | Enrichment | CHEK2, RB1, TP53 | 7.02 |
| 18 | Bone osteosarcoma | Enrichment | CHEK2, RB1, TP53 | 7.02 |
| 19 | Bladder cancer | Enrichment | ATM, BRCA1, BRCA2, RB1, TP53 | 6.70 |
| 20 | Lynch syndrome 4 | Enrichment | MSH2, MSH6, RB1 | 6.42 |
| 21 | Coffin-siris syndrome 1 | Enrichment | SMARCA4, SMARCB1, SMARCC2, SMARCD1 | 6.26 |
| 22 | Diffuse large b-cell lymphoma | Enrichment | BRCA2, CHEK2, NBN, TP53 | 5.81 |
| 23 | Inflammatory breast carcinoma | Enrichment | BRCA1, BRCA2 | 5.73 |
| 24 | Bilateral breast cancer | Enrichment | BRCA1, BRCA2 | 5.73 |
| 25 | Colonic benign neoplasm | Enrichment | ATM, CHEK2, MRE11 | 5.10 |
| 26 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1, BRCA2 | 4.95 |
| 27 | Cholangiocarcinoma | Enrichment | BRCA1, BRCA2 | 4.95 |
| 28 | Nijmegen breakage syndrome-like disorder | Enrichment | MRE11, RAD50 | 4.95 |
| 29 | Familial colorectal cancer type x | Enrichment | ATM, BRCA2, CHEK2 | 4.81 |
| 30 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1, BRCA2 | 4.73 |
| 31 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCA4, SMARCB1 | 4.67 |
| 32 | Li-fraumeni syndrome 1 | Enrichment | CHEK2, TP53 | 4.67 |
| 33 | Sarcoma | Enrichment | CHEK2, TP53 | 4.67 |
| 34 | Pituitary stalk interruption syndrome | Enrichment | FANCA, FANCG, SMARCA2 | 4.47 |
| 35 | Lynch syndrome | Enrichment | CHEK2, MSH2, MSH6 | 4.38 |
| 36 | Gliosarcoma | Enrichment | ATM, MSH2, TP53 | 4.29 |
| 37 | Myeloma, multiple | Enrichment | ATM, BARD1, BRCA2 | 4.21 |
| 38 | Giant cell glioblastoma | Enrichment | ATM, MSH2, TP53 | 4.21 |
| 39 | Atypical teratoid rhabdoid tumor | Enrichment | SMARCB1, TP53 | 4.20 |
| 40 | Squamous cell carcinoma | Enrichment | RB1, TP53 | 4.20 |
| 41 | Adenocarcinoma | Enrichment | ATM, TP53 | 4.20 |
| 42 | Small cell cancer of the lung | Enrichment | RB1, TP53 | 3.90 |
| 43 | Mismatch repair cancer syndrome 1 | Enrichment | MSH2, MSH6 | 3.90 |
| 44 | Hepatocellular carcinoma | Enrichment | NBN, RAD50, TP53 | 3.86 |
| 45 | Glioblastoma | Enrichment | ATM, MSH2 | 3.68 |
| 46 | Li-fraumeni syndrome | Enrichment | CHEK2, TP53 | 3.50 |
| 47 | Fanconi anemia, complementation group c | Enrichment | FANCC, HDAC8 | 3.23 |
| 48 | Leukemia, chronic lymphocytic | Enrichment | ATM, TP53 | 3.03 |
| 49 | Familial colorectal cancer | Enrichment | MSH2, TP53 | 3.03 |
| 50 | Atrial heart septal defect | Enrichment | HDAC8, SMARCA4 | 2.94 |
| 51 | Interatrial communication | Enrichment | HDAC8, SMARCA4 | 2.94 |
| 52 | Lip and oral cavity carcinoma | Enrichment | RB1, TP53 | 2.87 |
| 53 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.85 |
| 54 | Glioma susceptibility 3 | Enrichment | BRCA2 | 2.85 |
| 55 | Seckel syndrome 1 | Enrichment | ATR | 2.85 |
| 56 | Mirror movements 2 | Enrichment | RAD51 | 2.85 |
| 57 | Fanconi anemia, complementation group g | Enrichment | FANCG | 2.85 |
| 58 | Fanconi anemia, complementation group r | Enrichment | RAD51 | 2.85 |
| 59 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.85 |
| 60 | Pancreatic cancer 2 | Enrichment | BRCA2 | 2.85 |
| 61 | Ataxia-telangiectasia-like disorder 1 | Enrichment | MRE11 | 2.85 |
| 62 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 2.85 |
| 63 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.85 |
| 64 | Fanconi anemia, complementation group l | Enrichment | FANCL | 2.85 |
| 65 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.85 |
| 66 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 2.85 |
| 67 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.85 |
| 68 | Nk-cell enteropathy | Enrichment | CHEK2, SMARCB1 | 2.80 |
| 69 | Lung cancer susceptibility 3 | Enrichment | RB1, TP53 | 2.73 |
| 70 | Seckel syndrome | Enrichment | ATR, RBBP8 | 2.73 |
| 71 | Wilms tumor 1 | Enrichment | BRCA2, CHEK2 | 2.67 |
| 72 | Primary ovarian insufficiency | Enrichment | CHEK2, FANCA, NBN | 2.59 |
| 73 | Vacterl association, x-linked, with or without hydrocephalus | Enrichment | FANCL | 2.55 |
| 74 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.55 |
| 75 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.55 |
| 76 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.55 |
| 77 | Fanconi anemia, complementation group e | Enrichment | FANCE | 2.55 |
| 78 | Diffuse midline glioma, h3 k27m-mutant | Enrichment | BRCA2 | 2.55 |
| 79 | High grade glioma | Enrichment | ATM | 2.55 |
| 80 | Fanconi anemia, complementation group d1 | Enrichment | BRCA2 | 2.55 |
| 81 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.55 |
| 82 | Peritoneum cancer | Enrichment | BRCA1 | 2.55 |
| 83 | Submucosal cleft palate | Enrichment | UBB | 2.55 |
| 84 | Cleft hard palate | Enrichment | UBB | 2.55 |
| 85 | Neuroendocrine tumor of pancreas | Enrichment | BRCA2 | 2.55 |
| 86 | Ataxia-telangiectasia | Enrichment | ATM | 2.38 |
| 87 | Nijmegen breakage syndrome | Enrichment | NBN | 2.38 |
| 88 | Polycythemia vera | Enrichment | ATM | 2.38 |
| 89 | Uvula, bifid | Enrichment | UBB | 2.38 |
| 90 | Cleft soft palate | Enrichment | UBB | 2.38 |
| 91 | Tumor predisposition syndrome 1 | Enrichment | BRCA2 | 2.38 |
| 92 | Fanconi anemia, complementation group f | Enrichment | FANCF | 2.38 |
| 93 | Koolen-de vries syndrome | Enrichment | ATM | 2.38 |
| 94 | Bap1 tumor predisposition syndrome | Enrichment | BRCA2 | 2.38 |
| 95 | Basan syndrome | Enrichment | SMARCAD1 | 2.33 |
| 96 | Adermatoglyphia | Enrichment | SMARCAD1 | 2.33 |
| 97 | Bloom syndrome | Enrichment | BLM | 2.33 |
| 98 | Huriez syndrome | Enrichment | SMARCAD1 | 2.33 |
| 99 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | Enrichment | HDAC6 | 2.33 |
| 100 | Seckel syndrome 2 | Enrichment | RBBP8 | 2.33 |
| 101 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | Enrichment | HELLS | 2.33 |
| 102 | Coffin-siris syndrome 11 | Enrichment | SMARCD1 | 2.33 |
| 103 | Hydrocephalus, congenital, 5 | Enrichment | SMARCC1 | 2.33 |
| 104 | Auriculocondylar syndrome 4 | Enrichment | HDAC9 | 2.33 |
| 105 | Cornelia de lange syndrome 5 | Enrichment | HDAC8 | 2.33 |
| 106 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.33 |
| 107 | Papilloma of choroid plexus | Enrichment | TP53 | 2.33 |
| 108 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.33 |
| 109 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.33 |
| 110 | Jawad syndrome | Enrichment | RBBP8 | 2.33 |
| 111 | Tumor predisposition syndrome 4 | Enrichment | CHEK2 | 2.33 |
| 112 | Rhabdoid tumor predisposition syndrome 1 | Enrichment | SMARCB1 | 2.33 |
| 113 | Immunodeficiency 31a | Enrichment | STAT1 | 2.33 |
| 114 | Neurilemmoma | Enrichment | SMARCB1 | 2.33 |
| 115 | Immunodeficiency 31b | Enrichment | STAT1 | 2.33 |
| 116 | Ductal carcinoma in situ | Enrichment | TP53 | 2.33 |
| 117 | Coffin-siris syndrome 3 | Enrichment | SMARCB1 | 2.33 |
| 118 | Smarca4-deficient sarcoma of thorax | Enrichment | SMARCA4 | 2.33 |
| 119 | Ovarian small cell carcinoma | Enrichment | SMARCA4 | 2.33 |
| 120 | Mismatch repair cancer syndrome 2 | Enrichment | MSH2 | 2.33 |
| 121 | Blepharophimosis-impaired intellectual development syndrome | Enrichment | SMARCA2 | 2.33 |
| 122 | Leiomyosarcoma | Enrichment | CHEK2 | 2.33 |
| 123 | Rectal benign neoplasm | Enrichment | MSH2 | 2.33 |
| 124 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.33 |
| 125 | Trilateral retinoblastoma | Enrichment | RB1 | 2.33 |
| 126 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.33 |
| 127 | Ascending colon cancer | Enrichment | MSH2 | 2.33 |
| 128 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.33 |
| 129 | Keratoderma with scleroatrophy of the extremities | Enrichment | SMARCAD1 | 2.33 |
| 130 | Oocyte/zygote/embryo maturation arrest 21 | Enrichment | CHEK1 | 2.33 |
| 131 | Choroid plexus cancer | Enrichment | TP53 | 2.33 |
| 132 | Ovarian cyst | Enrichment | MSH2 | 2.33 |
| 133 | Autosomal recessive severe congenital neutropenia | Enrichment | SMARCD2 | 2.33 |
| 134 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.33 |
| 135 | Lung oat cell carcinoma | Enrichment | RB1 | 2.33 |
| 136 | Mirror movements 1 | Enrichment | RAD51 | 2.25 |
| 137 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Enrichment | MRE11 | 2.25 |
| 138 | Chordoma | Enrichment | BRCA2 | 2.25 |
| 139 | Erythrocytosis, familial, 2 | Enrichment | FANCD2 | 2.25 |
| 140 | Mantle cell lymphoma | Enrichment | ATM | 2.25 |
| 141 | Vacterl association | Enrichment | FANCL | 2.25 |
| 142 | Oculomotor apraxia | Enrichment | ATM | 2.25 |
| 143 | Fanconi anemia, complementation group d2 | Enrichment | FANCD2 | 2.16 |
| 144 | Vater/vacterl association | Enrichment | FANCL | 2.16 |
| 145 | Von hippel-lindau syndrome | Enrichment | FANCD2 | 2.16 |
| 146 | Kabuki syndrome 1 | Enrichment | BRCA2 | 2.08 |
| 147 | Clear cell renal cell carcinoma | Enrichment | ATM | 2.08 |
| 148 | Alopecia, androgenetic, 1 | Enrichment | SMARCD1 | 2.03 |
| 149 | Muir-torre syndrome | Enrichment | MSH2 | 2.03 |
| 150 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.03 |
| 151 | Specific granule deficiency 1 | Enrichment | SMARCD2 | 2.03 |
| 152 | Cervical cancer | Enrichment | TP53 | 2.03 |
| 153 | Rhabdoid tumor predisposition syndrome 2 | Enrichment | SMARCA4 | 2.03 |
| 154 | Schwannomatosis 1 | Enrichment | SMARCB1 | 2.03 |
| 155 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.03 |
| 156 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.03 |
| 157 | Syndactyly, type iii | Enrichment | HDAC8 | 2.03 |
| 158 | Immunodeficiency 31c | Enrichment | STAT1 | 2.03 |
| 159 | Congenital heart defects, multiple types, 3 | Enrichment | CHEK2 | 2.03 |
| 160 | Specific granule deficiency 2 | Enrichment | SMARCD2 | 2.03 |
| 161 | Coffin-siris syndrome 8 | Enrichment | SMARCC2 | 2.03 |
| 162 | Wilson-turner syndrome | Enrichment | HDAC8 | 2.03 |
| 163 | Congenital fibrosarcoma | Enrichment | TP53 | 2.03 |
| 164 | Otosclerosis 12 | Enrichment | SMARCA4 | 2.03 |
| 165 | Coffin-siris syndrome 4 | Enrichment | SMARCA4 | 2.03 |
| 166 | Cervix carcinoma | Enrichment | TP53 | 2.03 |
| 167 | Hodgkin's lymphoma | Enrichment | TP53 | 2.03 |
| 168 | Blepharophimosis - intellectual disability syndrome | Enrichment | SMARCA2 | 2.03 |
| 169 | Mismatch repair cancer syndrome 3 | Enrichment | MSH6 | 2.03 |
| 170 | Familial retinoblastoma | Enrichment | RB1 | 2.03 |
| 171 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.03 |
| 172 | Specific granule deficiency | Enrichment | SMARCD2 | 2.03 |
| 173 | Lung cancer | Enrichment | BRCA1, CHEK2 | 2.02 |
| 174 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 2.01 |
| 175 | Isolated growth hormone deficiency, type ia | Enrichment | BRCA2 | 1.95 |
| 176 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | BRCA2 | 1.90 |
| 177 | Polydactyly | Enrichment | BRCA2 | 1.90 |
| 178 | Retinoblastoma | Enrichment | RB1 | 1.86 |
| 179 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.86 |
| 180 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.86 |
| 181 | Lynch syndrome 5 | Enrichment | MSH6 | 1.86 |
| 182 | Hypotrichosis 8 | Enrichment | RB1 | 1.86 |
| 183 | Anaplastic astrocytoma | Enrichment | TP53 | 1.86 |
| 184 | Cellular ependymoma | Enrichment | MSH2 | 1.86 |
| 185 | Tanycytic ependymoma | Enrichment | MSH2 | 1.86 |
| 186 | Papillary ependymoma | Enrichment | MSH2 | 1.86 |
| 187 | Schwannomatosis | Enrichment | SMARCB1 | 1.86 |
| 188 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | Enrichment | MSH6 | 1.86 |
| 189 | Colon adenocarcinoma | Enrichment | MSH6 | 1.86 |
| 190 | Melanoma of soft tissue | Enrichment | ATF1 | 1.86 |
| 191 | Clear cell ependymoma | Enrichment | MSH2 | 1.86 |
| 192 | Aplastic anemia | Enrichment | NBN | 1.86 |
| 193 | Isolated tracheo-esophageal fistula | Enrichment | BRCA2 | 1.86 |
| 194 | Cerebral palsy | Enrichment | BRCA2, SMARCA4 | 1.85 |
| 195 | Leukemia, acute myeloid | Enrichment | FANCD2, TP53 | 1.83 |
| 196 | Immune deficiency disease | Enrichment | ATM | 1.82 |
| 197 | Leukemia, acute lymphoblastic | Enrichment | NBN | 1.82 |
| 198 | Premature menopause | Enrichment | NBN | 1.74 |
| 199 | Gaucher disease, type i | Enrichment | MSH6 | 1.73 |
| 200 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.73 |
| 201 | Nicolaides-baraitser syndrome | Enrichment | SMARCA2 | 1.73 |
| 202 | Blepharophimosis | Enrichment | SMARCA2 | 1.73 |
| 203 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.73 |
| 204 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.73 |
| 205 | Smarca2-related nicolaides-baraitser syndrome | Enrichment | SMARCA2 | 1.73 |
| 206 | Hemoglobin c disease | Enrichment | CHEK2 | 1.73 |
| 207 | Full schwannomatosis | Enrichment | SMARCB1 | 1.73 |
| 208 | Benign ependymoma | Enrichment | MSH2 | 1.73 |
| 209 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | CHEK1 | 1.73 |
| 210 | Medulloblastoma | Enrichment | BRCA2 | 1.71 |
| 211 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.71 |
| 212 | Microcephaly | Enrichment | HDAC8, NBN, SMARCA5 | 1.71 |
| 213 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.68 |
| 214 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.64 |
| 215 | Lymphoma | Enrichment | TP53 | 1.64 |
| 216 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.64 |
| 217 | Esophageal atresia/tracheoesophageal fistula | Enrichment | BRCA2 | 1.58 |
| 218 | Wilms tumor 5 | Enrichment | CHEK2 | 1.56 |
| 219 | Immunodeficiency-centromeric instability-facial anomalies syndrome | Enrichment | HELLS | 1.56 |
| 220 | Adrenocortical carcinoma | Enrichment | TP53 | 1.56 |
| 221 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.56 |
| 222 | Breast adenocarcinoma | Enrichment | TP53 | 1.56 |
| 223 | Lissencephaly | Enrichment | NBN | 1.54 |
| 224 | Esophageal cancer | Enrichment | TP53 | 1.49 |
| 225 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.49 |
| 226 | Essential thrombocythemia | Enrichment | TP53 | 1.49 |
| 227 | Gallbladder cancer | Enrichment | TP53 | 1.49 |
| 228 | Congenital hydrocephalus | Enrichment | SMARCC1 | 1.49 |
| 229 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.49 |
| 230 | Glioma susceptibility 1 | Enrichment | TP53 | 1.44 |
| 231 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.44 |
| 232 | Ewing sarcoma | Enrichment | SMARCA5 | 1.44 |
| 233 | Neuroblastoma | Enrichment | SMARCA4 | 1.44 |
| 234 | Cornelia de lange syndrome 1 | Enrichment | HDAC8 | 1.39 |
| 235 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.39 |
| 236 | Primary hyperaldosteronism | Enrichment | TP53 | 1.39 |
| 237 | Ventricular septal defect | Enrichment | SMARCA4 | 1.39 |
| 238 | Cornelia de lange syndrome | Enrichment | HDAC8 | 1.39 |
| 239 | Melanoma | Enrichment | CHEK2 | 1.34 |
| 240 | Meningioma, familial | Enrichment | SMARCB1 | 1.30 |
| 241 | Myelodysplastic syndrome | Enrichment | TP53 | 1.30 |
| 242 | Meningioma | Enrichment | SMARCB1 | 1.26 |
| 243 | Hypercholesterolemia, familial, 1 | Enrichment | SMARCA4 | 1.23 |
| 244 | Familial hypercholesterolemia | Enrichment | SMARCA4 | 1.17 |
| 245 | Cleft palate, isolated | Enrichment | SMARCA4 | 1.12 |
| 246 | Polycystic kidney disease | Enrichment | HDAC8 | 1.09 |
| 247 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.99 |
| 248 | Non-syndromic x-linked intellectual disability | Enrichment | SMARCA1 | 0.81 |
| 249 | Diamond-blackfan anemia | Enrichment | TP53 | 0.81 |
| 250 | Autism spectrum disorder | Enrichment | SMARCB1 | 0.40 |