| 1 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1, BAX | 4.03 |
| 2 | Small cell cancer of the lung | Enrichment | RB1, TP73 | 3.73 |
| 3 | Primary ovarian insufficiency | Enrichment | AFP, NTRK1, TP63, WT1 | 3.48 |
| 4 | Bladder cancer | Enrichment | BRCA2, CDKN1A, RB1 | 3.25 |
| 5 | Mosaic variegated aneuploidy syndrome | Enrichment | BUB1, BUB3 | 3.07 |
| 6 | Colorectal cancer | Enrichment | BAX, BRCA2, BUB1, EP300 | 2.85 |
| 7 | Lip and oral cavity carcinoma | Enrichment | ABL1, RB1 | 2.71 |
| 8 | Ovarian cancer | Enrichment | BRCA2, NTRK1, RB1, WT1 | 2.61 |
| 9 | 46,xy partial gonadal dysgenesis | Enrichment | WT1, WWOX | 2.57 |
| 10 | Wilms tumor 1 | Enrichment | BRCA2, WT1 | 2.51 |
| 11 | Rapp-hodgkin syndrome | Enrichment | TP63 | 2.25 |
| 12 | Ankyloblepharon-ectodermal defects-cleft lip/palate | Enrichment | TP63 | 2.25 |
| 13 | Anemia, congenital, nonspherocytic hemolytic, 9 | Enrichment | GATA1 | 2.25 |
| 14 | Thrombocytopenia, x-linked, with or without dyserythropoietic anemia | Enrichment | GATA1 | 2.25 |
| 15 | Split-hand/foot malformation 4 | Enrichment | TP63 | 2.25 |
| 16 | Thrombocytopenia with beta-thalassemia, x-linked | Enrichment | GATA1 | 2.25 |
| 17 | Ankyloblepharon filiforme adnatum and cleft palate | Enrichment | TP63 | 2.25 |
| 18 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development | Enrichment | YAP1 | 2.25 |
| 19 | Hydroxyacyl glutathione hydrolase deficiency | Enrichment | HAGH | 2.25 |
| 20 | Glioma susceptibility 3 | Enrichment | BRCA2 | 2.25 |
| 21 | Adult syndrome | Enrichment | TP63 | 2.25 |
| 22 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 2.25 |
| 23 | Mirror movements 2 | Enrichment | RAD51 | 2.25 |
| 24 | Sessile serrated polyposis cancer syndrome | Enrichment | RNF43 | 2.25 |
| 25 | Accelerated tumor formation | Enrichment | MDM2 | 2.25 |
| 26 | Ciliary dyskinesia, primary, 47, and lissencephaly | Enrichment | TP73 | 2.25 |
| 27 | Fanconi anemia, complementation group r | Enrichment | RAD51 | 2.25 |
| 28 | Alpha-fetoprotein, hereditary persistence of | Enrichment | AFP | 2.25 |
| 29 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.25 |
| 30 | Hyperemesis gravidarum | Enrichment | GDF15 | 2.25 |
| 31 | Anemia, x-linked, with or without neutropenia and/or platelet abnormalities | Enrichment | GATA1 | 2.25 |
| 32 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.25 |
| 33 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.25 |
| 34 | Pancreatic cancer 2 | Enrichment | BRCA2 | 2.25 |
| 35 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | Enrichment | TP63 | 2.25 |
| 36 | Uveal coloboma-cleft lip and palate-intellectual disability | Enrichment | YAP1 | 2.25 |
| 37 | Limb-mammary syndrome | Enrichment | TP63 | 2.25 |
| 38 | Autoimmune disease, multisystem, with facial dysmorphism | Enrichment | ITCH | 2.25 |
| 39 | Meacham syndrome | Enrichment | WT1 | 2.25 |
| 40 | Premature ovarian failure 21 | Enrichment | TP63 | 2.25 |
| 41 | Alpha-fetoprotein deficiency | Enrichment | AFP | 2.25 |
| 42 | Alpha-1-antitrypsin deficiency | Enrichment | SERPINA1 | 2.25 |
| 43 | Orofacial cleft 8 | Enrichment | TP63 | 2.25 |
| 44 | Muscular dystrophy, limb-girdle, autosomal recessive 27 | Enrichment | JAG2 | 2.25 |
| 45 | Mitochondrial complex i deficiency, nuclear type 6 | Enrichment | NDUFS2 | 2.25 |
| 46 | Hyperplastic polyposis syndrome | Enrichment | RNF43 | 2.25 |
| 47 | Periventricular nodular heterotopia 7 | Enrichment | NEDD4L | 2.25 |
| 48 | Trilateral retinoblastoma | Enrichment | RB1 | 2.25 |
| 49 | Acute megakaryoblastic leukemia in children with down syndrome | Enrichment | GATA1 | 2.25 |
| 50 | Microcephaly 30, primary, autosomal recessive | Enrichment | BUB1 | 2.25 |
| 51 | Lissencephaly due to tuba1a mutation | Enrichment | TUBA1A | 2.25 |
| 52 | Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly | Enrichment | CASP2 | 2.25 |
| 53 | Leber-like hereditary optic neuropathy, autosomal recessive 2 | Enrichment | NDUFS2 | 2.25 |
| 54 | Syndromic multisystem autoimmune disease due to itch deficiency | Enrichment | ITCH | 2.25 |
| 55 | Thrombocytopenia with congenital dyserythropoietic anemia | Enrichment | GATA1 | 2.25 |
| 56 | Hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation | Enrichment | SERPINA1 | 2.25 |
| 57 | Oocyte/zygote/embryo maturation arrest 21 | Enrichment | CHEK1 | 2.25 |
| 58 | Tp63-related disorders | Enrichment | TP63 | 2.25 |
| 59 | Esophagus squamous cell carcinoma | Enrichment | WWOX | 2.25 |
| 60 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.25 |
| 61 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.25 |
| 62 | Lung oat cell carcinoma | Enrichment | RB1 | 2.25 |
| 63 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1, MYC | 2.14 |
| 64 | Myeloproliferative syndrome, transient | Enrichment | GATA1 | 1.95 |
| 65 | Burkitt lymphoma | Enrichment | MYC | 1.95 |
| 66 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 | Enrichment | TP63 | 1.95 |
| 67 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 1.95 |
| 68 | Denys-drash syndrome | Enrichment | WT1 | 1.95 |
| 69 | Porphyria, congenital erythropoietic | Enrichment | GATA1 | 1.95 |
| 70 | Nephrotic syndrome, type 4 | Enrichment | WT1 | 1.95 |
| 71 | Frasier syndrome | Enrichment | WT1 | 1.95 |
| 72 | Developmental and epileptic encephalopathy 28 | Enrichment | WWOX | 1.95 |
| 73 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 1.95 |
| 74 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | Enrichment | TUBA1A | 1.95 |
| 75 | Spinocerebellar ataxia, autosomal recessive 12 | Enrichment | WWOX | 1.95 |
| 76 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 1.95 |
| 77 | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | Enrichment | KAT5 | 1.95 |
| 78 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 1.95 |
| 79 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 1.95 |
| 80 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 1.95 |
| 81 | Autosomal recessive limb-girdle muscular dystrophy type 2d | Enrichment | TUBA1A | 1.95 |
| 82 | Bladder exstrophy | Enrichment | TP63 | 1.95 |
| 83 | Rela fusion-positive ependymoma | Enrichment | RELA | 1.95 |
| 84 | Lissencephaly 3 | Enrichment | TUBA1A | 1.95 |
| 85 | Diffuse midline glioma, h3 k27m-mutant | Enrichment | BRCA2 | 1.95 |
| 86 | Acute basophilic leukemia | Enrichment | GATA1 | 1.95 |
| 87 | Fanconi anemia, complementation group d1 | Enrichment | BRCA2 | 1.95 |
| 88 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 1.95 |
| 89 | Inflammatory breast carcinoma | Enrichment | BRCA2 | 1.95 |
| 90 | Fissured tongue | Enrichment | TP63 | 1.95 |
| 91 | Bilateral breast cancer | Enrichment | BRCA2 | 1.95 |
| 92 | Familial retinoblastoma | Enrichment | RB1 | 1.95 |
| 93 | Continuous spikes and waves during sleep | Enrichment | TUBA1A | 1.95 |
| 94 | Desmoplastic small round cell tumor | Enrichment | WT1 | 1.95 |
| 95 | Neuroendocrine tumor of pancreas | Enrichment | BRCA2 | 1.95 |
| 96 | Fanconi anemia, complementation group a | Enrichment | BRCA2, RAD51 | 1.79 |
| 97 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | ADA | 1.78 |
| 98 | Retinoblastoma | Enrichment | RB1 | 1.78 |
| 99 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1 | 1.78 |
| 100 | Mesothelioma, malignant | Enrichment | WT1 | 1.78 |
| 101 | Intellectual developmental disorder, x-linked 109 | Enrichment | SERPINA1 | 1.78 |
| 102 | Osteogenic sarcoma | Enrichment | RB1 | 1.78 |
| 103 | Chromosome 5q14.3 deletion syndrome, distal | Enrichment | NEDD4L | 1.78 |
| 104 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.78 |
| 105 | Tumor predisposition syndrome 1 | Enrichment | BRCA2 | 1.78 |
| 106 | Hypotrichosis 8 | Enrichment | RB1 | 1.78 |
| 107 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1 | 1.78 |
| 108 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.78 |
| 109 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 1.78 |
| 110 | Squamous cell carcinoma | Enrichment | RB1 | 1.78 |
| 111 | Bone osteosarcoma | Enrichment | RB1 | 1.78 |
| 112 | Bap1 tumor predisposition syndrome | Enrichment | BRCA2 | 1.78 |
| 113 | Respiratory failure | Enrichment | TP73 | 1.78 |
| 114 | Tubulinopathy-associated dysgyria | Enrichment | TUBA1A | 1.78 |
| 115 | Well-differentiated liposarcoma | Enrichment | MDM2 | 1.78 |
| 116 | Vogt-koyanagi-harada disease | Enrichment | FAS | 1.78 |
| 117 | Cerebral palsy | Enrichment | BRCA2, TUBA1A | 1.70 |
| 118 | Mirror movements 1 | Enrichment | RAD51 | 1.65 |
| 119 | Aniridia 1 | Enrichment | WT1 | 1.65 |
| 120 | Chordoma | Enrichment | BRCA2 | 1.65 |
| 121 | Down syndrome | Enrichment | GATA1 | 1.65 |
| 122 | Myopathy, centronuclear, 2 | Enrichment | BIN1 | 1.65 |
| 123 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA2 | 1.65 |
| 124 | Autoimmune lymphoproliferative syndrome | Enrichment | FAS | 1.65 |
| 125 | Cholangiocarcinoma | Enrichment | BRCA2 | 1.65 |
| 126 | Lynch syndrome 4 | Enrichment | RB1 | 1.65 |
| 127 | Malignant epithelioid hemangioendothelioma | Enrichment | YAP1 | 1.65 |
| 128 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 1.65 |
| 129 | Tubulinopathy | Enrichment | TUBA1A | 1.65 |
| 130 | Adenosine deaminase deficiency | Enrichment | ADA | 1.65 |
| 131 | Cleft lip and alveolus | Enrichment | TP63 | 1.65 |
| 132 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | CHEK1 | 1.65 |
| 133 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1 | 1.65 |
| 134 | West syndrome | Enrichment | TUBA1A, WWOX | 1.60 |
| 135 | Hereditary breast carcinoma | Enrichment | BRCA2, RAD51 | 1.60 |
| 136 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | ADA | 1.56 |
| 137 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA2 | 1.56 |
| 138 | Leber congenital amaurosis 10 | Enrichment | WT1 | 1.56 |
| 139 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.56 |
| 140 | Acute megakaryocytic leukemia | Enrichment | GATA1 | 1.56 |
| 141 | Cleft upper lip | Enrichment | TP63 | 1.56 |
| 142 | Li-fraumeni syndrome | Enrichment | MDM2 | 1.48 |
| 143 | Myopathy, centronuclear, 1 | Enrichment | BIN1 | 1.48 |
| 144 | Kabuki syndrome 1 | Enrichment | BRCA2 | 1.48 |
| 145 | Rubinstein-taybi syndrome 1 | Enrichment | EP300 | 1.48 |
| 146 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | WT1 | 1.48 |
| 147 | Wilms tumor 5 | Enrichment | WT1 | 1.48 |
| 148 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | EP300 | 1.48 |
| 149 | Congenital fibrosis of the extraocular muscles | Enrichment | TUBA1A | 1.48 |
| 150 | Early myoclonic encephalopathy | Enrichment | TUBA1A | 1.48 |
| 151 | Inherited cancer-predisposing syndrome | Enrichment | BRCA2, RB1, WT1 | 1.42 |
| 152 | Hereditary breast ovarian cancer syndrome | Enrichment | BRCA2, RAD51 | 1.42 |
| 153 | Esophageal cancer | Enrichment | WWOX | 1.41 |
| 154 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.41 |
| 155 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | TUBA1A | 1.41 |
| 156 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.41 |
| 157 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NTRK1 | 1.41 |
| 158 | Moyamoya angiopathy | Enrichment | ABL1 | 1.41 |
| 159 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1 | 1.41 |
| 160 | Myeloma, multiple | Enrichment | BRCA2, YAP1 | 1.41 |
| 161 | Isolated growth hormone deficiency, type ia | Enrichment | BRCA2 | 1.36 |
| 162 | Cryptorchidism | Enrichment | TUBA1A | 1.36 |
| 163 | Isolated split hand-split foot malformation | Enrichment | TP63 | 1.36 |
| 164 | Difference of sex development | Enrichment | WT1 | 1.36 |
| 165 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | BRCA2 | 1.31 |
| 166 | Charge syndrome | Enrichment | EP300 | 1.31 |
| 167 | Cryptorchidism, unilateral or bilateral | Enrichment | TUBA1A | 1.31 |
| 168 | Ellis-van creveld syndrome | Enrichment | PRKACB | 1.31 |
| 169 | Polydactyly | Enrichment | BRCA2 | 1.31 |
| 170 | Leukemia, acute lymphoblastic 3 | Enrichment | WT1 | 1.31 |
| 171 | Bilateral perisylvian polymicrogyria | Enrichment | TUBA1A | 1.31 |
| 172 | Omenn syndrome | Enrichment | ADA | 1.26 |
| 173 | Isolated tracheo-esophageal fistula | Enrichment | BRCA2 | 1.26 |
| 174 | 46,xy complete gonadal dysgenesis | Enrichment | WT1 | 1.22 |
| 175 | Uterine corpus cancer | Enrichment | BRCA2 | 1.22 |
| 176 | Familial colorectal cancer type x | Enrichment | BRCA2 | 1.22 |
| 177 | Breast cancer | Enrichment | BRCA2, RAD51 | 1.18 |
| 178 | Microphthalmia/coloboma 12 | Enrichment | YAP1 | 1.15 |
| 179 | Breast-ovarian cancer, familial 1 | Enrichment | BRCA2 | 1.15 |
| 180 | Pulmonary disease, chronic obstructive | Enrichment | SERPINA1 | 1.15 |
| 181 | Acute promyelocytic leukemia | Enrichment | PML | 1.15 |
| 182 | Premature menopause | Enrichment | TP63 | 1.15 |
| 183 | Chromosome 1p36 deletion syndrome | Enrichment | UBE4B | 1.15 |
| 184 | Protein-deficiency anemia | Enrichment | GATA1 | 1.15 |
| 185 | Medulloblastoma | Enrichment | BRCA2 | 1.12 |
| 186 | Lung cancer susceptibility 3 | Enrichment | RB1 | 1.12 |
| 187 | Periventricular nodular heterotopia | Enrichment | NEDD4L | 1.12 |
| 188 | Heart disease | Enrichment | ABL1 | 1.12 |
| 189 | Cleft lip/palate | Enrichment | TP63 | 1.12 |
| 190 | Coloboma of macula | Enrichment | YAP1 | 1.09 |
| 191 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.09 |
| 192 | Corpus callosum, agenesis of | Enrichment | TUBA1A | 1.09 |
| 193 | Kidney disease | Enrichment | WT1 | 1.09 |
| 194 | Isolated corpus callosum agenesis | Enrichment | TUBA1A | 1.09 |
| 195 | Rare genetic intellectual disability | Enrichment | EP300 | 1.09 |
| 196 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | TUBA1A | 1.09 |
| 197 | Male infertility with spermatogenesis disorder | Enrichment | TP63 | 1.09 |
| 198 | Rhabdomyosarcoma | Enrichment | BRCA2 | 1.07 |
| 199 | Dandy-walker syndrome | Enrichment | TUBA1A | 1.04 |
| 200 | Behcet syndrome | Enrichment | FAS | 0.99 |
| 201 | Diffuse large b-cell lymphoma | Enrichment | BRCA2 | 0.99 |
| 202 | Esophageal atresia/tracheoesophageal fistula | Enrichment | BRCA2 | 0.99 |
| 203 | Focal segmental glomerulosclerosis | Enrichment | WT1 | 0.97 |
| 204 | Endometrial cancer | Enrichment | BRCA2 | 0.95 |
| 205 | Lissencephaly | Enrichment | TUBA1A | 0.95 |
| 206 | Hepatoblastoma | Enrichment | BRCA2 | 0.95 |
| 207 | Congenital nervous system abnormality | Enrichment | TUBA1A, WWOX | 0.92 |
| 208 | Nervous system disease | Enrichment | TUBA1A, WWOX | 0.92 |
| 209 | Diamond-blackfan anemia 1 | Enrichment | GATA1 | 0.92 |
| 210 | Pancreatic cancer | Enrichment | BRCA2 | 0.88 |
| 211 | Developmental and epileptic encephalopathy 1 | Enrichment | WWOX | 0.88 |
| 212 | Tetralogy of fallot | Enrichment | HEY2 | 0.87 |
| 213 | Prostate cancer | Enrichment | BRCA2 | 0.82 |
| 214 | Differentiated thyroid carcinoma | Enrichment | NTRK1 | 0.82 |
| 215 | Microcephaly | Enrichment | ABL1, EP300 | 0.82 |
| 216 | Lung cancer | Enrichment | FAS | 0.78 |
| 217 | Cystic fibrosis | Enrichment | SERPINA1 | 0.78 |
| 218 | Primary autosomal recessive microcephaly | Enrichment | CDK6 | 0.78 |
| 219 | Severe combined immunodeficiency | Enrichment | ADA | 0.77 |
| 220 | Genetic steroid-resistant nephrotic syndrome | Enrichment | WT1 | 0.76 |
| 221 | Diamond-blackfan anemia | Enrichment | GATA1 | 0.74 |
| 222 | Fetal akinesia deformation sequence 1 | Enrichment | TUBA1A | 0.73 |
| 223 | Leber hereditary optic neuropathy, modifier of | Enrichment | NDUFS2 | 0.73 |
| 224 | Mitochondrial complex i deficiency, nuclear type 1 | Enrichment | NDUFS2 | 0.72 |
| 225 | Epilepsy | Enrichment | WWOX | 0.70 |
| 226 | Benign epilepsy with centrotemporal spikes | Enrichment | WWOX | 0.69 |
| 227 | Centralopathic epilepsy | Enrichment | WWOX | 0.67 |
| 228 | Gastric cancer | Enrichment | BRCA2 | 0.67 |
| 229 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | HEY2 | 0.66 |
| 230 | Thrombocytopenia | Enrichment | GATA1 | 0.63 |
| 231 | Undetermined early-onset epileptic encephalopathy | Enrichment | WWOX | 0.57 |
| 232 | Leber plus disease | Enrichment | NDUFS2 | 0.38 |