| 1 | Ovarian cancer | Enrichment | ATM, CDKN2A, CTNNB1, ERCC2, ERCC3, MAP3K1, RB1, TP53, XPA, XPC | 16.00 |
| 2 | Bladder cancer | Enrichment | ATM, CDKN1A, CDKN2A, CTNNB1, ERCC2, RB1, TP53 | 10.81 |
| 3 | Xeroderma pigmentosum, variant type | Enrichment | ERCC2, ERCC3, XPA, XPC | 7.14 |
| 4 | Li-fraumeni syndrome | Enrichment | CDKN2A, MDM2, TP53 | 5.93 |
| 5 | Adrenocortical carcinoma | Enrichment | CDKN2A, CTNNB1, TP53 | 5.93 |
| 6 | Trichothiodystrophy | Enrichment | ERCC2, ERCC3, GTF2H5 | 5.31 |
| 7 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, RB1, TP53 | 4.89 |
| 8 | Xeroderma pigmentosum, complementation group a | Enrichment | XPA, XPC | 4.81 |
| 9 | Osteogenic sarcoma | Enrichment | RB1, TP53 | 4.33 |
| 10 | Squamous cell carcinoma | Enrichment | RB1, TP53 | 4.33 |
| 11 | Adenocarcinoma | Enrichment | ATM, TP53 | 4.33 |
| 12 | Bone osteosarcoma | Enrichment | RB1, TP53 | 4.33 |
| 13 | Hepatoblastoma | Enrichment | CTNNB1, ERCC2, TP53 | 4.12 |
| 14 | Small cell cancer of the lung | Enrichment | RB1, TP53 | 4.03 |
| 15 | Craniopharyngioma | Enrichment | CTNNB1, ERCC2 | 4.03 |
| 16 | Pancreatic cancer | Enrichment | ATM, CDKN2A, TP53 | 3.89 |
| 17 | Xeroderma pigmentosum-cockayne syndrome complex | Enrichment | ERCC2, ERCC3 | 3.81 |
| 18 | Inherited cancer-predisposing syndrome | Enrichment | ATM, CDKN2A, ERCC3, RB1, TP53 | 3.76 |
| 19 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 3.64 |
| 20 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 3.64 |
| 21 | Gallbladder cancer | Enrichment | CTNNB1, TP53 | 3.49 |
| 22 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 3.49 |
| 23 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A, TP53 | 3.49 |
| 24 | Colorectal cancer | Enrichment | ATM, CTNNB1, EP300, TP53 | 3.41 |
| 25 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, TP53 | 3.26 |
| 26 | Gastric cancer | Enrichment | ATM, CDKN2A, TP53 | 3.18 |
| 27 | Leukemia, chronic lymphocytic | Enrichment | ATM, TP53 | 3.16 |
| 28 | Lung cancer susceptibility 3 | Enrichment | RB1, TP53 | 2.86 |
| 29 | Myeloma, multiple | Enrichment | ATM, CREBBP, TP53 | 2.85 |
| 30 | Corpus callosum, agenesis of | Enrichment | CREBBP, ERCC2 | 2.80 |
| 31 | Isolated corpus callosum agenesis | Enrichment | CREBBP, ERCC2 | 2.80 |
| 32 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300 | 2.80 |
| 33 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP, ERCC2 | 2.80 |
| 34 | Gliosarcoma | Enrichment | ATM, TP53 | 2.74 |
| 35 | Giant cell glioblastoma | Enrichment | ATM, TP53 | 2.69 |
| 36 | Diffuse large b-cell lymphoma | Enrichment | CREBBP, TP53 | 2.59 |
| 37 | Hepatocellular carcinoma | Enrichment | CTNNB1, TP53 | 2.47 |
| 38 | Tooth agenesis | Enrichment | RANBP2, SUMO1 | 2.47 |
| 39 | Spermatogenic failure, x-linked, 9 | Enrichment | RBBP7 | 2.40 |
| 40 | Xeroderma pigmentosum, complementation group b | Enrichment | ERCC3 | 2.40 |
| 41 | Seckel syndrome 1 | Enrichment | ATR | 2.40 |
| 42 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.40 |
| 43 | Accelerated tumor formation | Enrichment | MDM2 | 2.40 |
| 44 | Immunodeficiency 92 | Enrichment | REL | 2.40 |
| 45 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.40 |
| 46 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.40 |
| 47 | Orofacial cleft 10 | Enrichment | SUMO1 | 2.40 |
| 48 | Papilloma of choroid plexus | Enrichment | TP53 | 2.40 |
| 49 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.40 |
| 50 | Xeroderma pigmentosum, complementation group d | Enrichment | ERCC2 | 2.40 |
| 51 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.40 |
| 52 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.40 |
| 53 | Trichothiodystrophy 2, photosensitive | Enrichment | ERCC3 | 2.40 |
| 54 | Xeroderma pigmentosum group b | Enrichment | ERCC3 | 2.40 |
| 55 | Charcot-marie-tooth disease, axonal, type 2f | Enrichment | HSPB1 | 2.40 |
| 56 | Cerebrooculofacioskeletal syndrome 2 | Enrichment | ERCC2 | 2.40 |
| 57 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 2.40 |
| 58 | Trichothiodystrophy 3, photosensitive | Enrichment | GTF2H5 | 2.40 |
| 59 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.40 |
| 60 | Ductal carcinoma in situ | Enrichment | TP53 | 2.40 |
| 61 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.40 |
| 62 | Immunodeficiency 53 | Enrichment | RELB | 2.40 |
| 63 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.40 |
| 64 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.40 |
| 65 | Tufted angioma of skin | Enrichment | KDR | 2.40 |
| 66 | Trilateral retinoblastoma | Enrichment | RB1 | 2.40 |
| 67 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.40 |
| 68 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.40 |
| 69 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.40 |
| 70 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.40 |
| 71 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.40 |
| 72 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.40 |
| 73 | Choroid plexus cancer | Enrichment | TP53 | 2.40 |
| 74 | Xeroderma pigmentosum group d | Enrichment | ERCC2 | 2.40 |
| 75 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.40 |
| 76 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.40 |
| 77 | Familial acute necrotizing encephalopathy | Enrichment | RANBP2 | 2.40 |
| 78 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 2.40 |
| 79 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.40 |
| 80 | Lung oat cell carcinoma | Enrichment | RB1 | 2.40 |
| 81 | Prostate cancer | Enrichment | ATM, TP53 | 2.23 |
| 82 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.10 |
| 83 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.10 |
| 84 | Thumb deformity | Enrichment | CREBBP | 2.10 |
| 85 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.10 |
| 86 | Xeroderma pigmentosum, complementation group c | Enrichment | XPC | 2.10 |
| 87 | Cervical cancer | Enrichment | TP53 | 2.10 |
| 88 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.10 |
| 89 | Neuronopathy, distal hereditary motor, autosomal dominant 3 | Enrichment | HSPB1 | 2.10 |
| 90 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.10 |
| 91 | Angioma, tufted | Enrichment | KDR | 2.10 |
| 92 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.10 |
| 93 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.10 |
| 94 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 2.10 |
| 95 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.10 |
| 96 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.10 |
| 97 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.10 |
| 98 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.10 |
| 99 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.10 |
| 100 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.10 |
| 101 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.10 |
| 102 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.10 |
| 103 | Congenital fibrosarcoma | Enrichment | TP53 | 2.10 |
| 104 | High grade glioma | Enrichment | ATM | 2.10 |
| 105 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.10 |
| 106 | Sarcoma | Enrichment | TP53 | 2.10 |
| 107 | Cervix carcinoma | Enrichment | TP53 | 2.10 |
| 108 | Hodgkin's lymphoma | Enrichment | TP53 | 2.10 |
| 109 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.10 |
| 110 | Xeroderma pigmentosum group c | Enrichment | XPC | 2.10 |
| 111 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.10 |
| 112 | Teratoma | Enrichment | CTNNB1 | 2.10 |
| 113 | Familial retinoblastoma | Enrichment | RB1 | 2.10 |
| 114 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.10 |
| 115 | Acute necrotizing encephalopathy of childhood | Enrichment | RANBP2 | 2.10 |
| 116 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.10 |
| 117 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.92 |
| 118 | Retinoblastoma | Enrichment | RB1 | 1.92 |
| 119 | Ataxia-telangiectasia | Enrichment | ATM | 1.92 |
| 120 | Polycythemia vera | Enrichment | ATM | 1.92 |
| 121 | Trichothiodystrophy 1, photosensitive | Enrichment | ERCC2 | 1.92 |
| 122 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.92 |
| 123 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.92 |
| 124 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.92 |
| 125 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.92 |
| 126 | Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | RANBP2 | 1.92 |
| 127 | Anus, imperforate | Enrichment | CTNNB1 | 1.92 |
| 128 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.92 |
| 129 | Hypotrichosis 8 | Enrichment | RB1 | 1.92 |
| 130 | Tethered spinal cord syndrome | Enrichment | CREBBP | 1.92 |
| 131 | Koolen-de vries syndrome | Enrichment | ATM | 1.92 |
| 132 | Desmoid tumor | Enrichment | CTNNB1 | 1.92 |
| 133 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 1.92 |
| 134 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 1.92 |
| 135 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.92 |
| 136 | Anaplastic astrocytoma | Enrichment | TP53 | 1.92 |
| 137 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 1.92 |
| 138 | Well-differentiated liposarcoma | Enrichment | MDM2 | 1.92 |
| 139 | Hereditary breast carcinoma | Enrichment | ATM, TP53 | 1.88 |
| 140 | Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | RANBP2 | 1.80 |
| 141 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.80 |
| 142 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.80 |
| 143 | Pilomatrixoma | Enrichment | CTNNB1 | 1.80 |
| 144 | Lynch syndrome 4 | Enrichment | RB1 | 1.80 |
| 145 | Alazami syndrome | Enrichment | CTNNB1 | 1.80 |
| 146 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.80 |
| 147 | Mantle cell lymphoma | Enrichment | ATM | 1.80 |
| 148 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.80 |
| 149 | Ectodermal dysplasia | Enrichment | RANBP2 | 1.80 |
| 150 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.80 |
| 151 | Oculomotor apraxia | Enrichment | ATM | 1.80 |
| 152 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | RANBP2 | 1.70 |
| 153 | Neuronopathy, distal hereditary motor, autosomal dominant 2 | Enrichment | HSPB1 | 1.70 |
| 154 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.70 |
| 155 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.70 |
| 156 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.70 |
| 157 | Pre-eclampsia | Enrichment | FLT1 | 1.70 |
| 158 | Follicular lymphoma | Enrichment | BCL2 | 1.70 |
| 159 | Lymphoma | Enrichment | TP53 | 1.70 |
| 160 | Glioblastoma | Enrichment | ATM | 1.70 |
| 161 | Histiocytoid hemangioma | Enrichment | FOS | 1.70 |
| 162 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.70 |
| 163 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | Enrichment | RANBP2 | 1.70 |
| 164 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, TP53 | 1.69 |
| 165 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.63 |
| 166 | Cerebrooculofacioskeletal syndrome 1 | Enrichment | ERCC2 | 1.63 |
| 167 | Hemangioma, capillary infantile | Enrichment | KDR | 1.63 |
| 168 | Inflammatory myofibroblastic tumor | Enrichment | RANBP2 | 1.63 |
| 169 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.63 |
| 170 | Breast adenocarcinoma | Enrichment | TP53 | 1.63 |
| 171 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.63 |
| 172 | Hypertrichosis | Enrichment | CREBBP | 1.63 |
| 173 | Esophageal cancer | Enrichment | TP53 | 1.56 |
| 174 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.56 |
| 175 | Mitochondrial dna depletion syndrome 4a | Enrichment | RANBP2 | 1.56 |
| 176 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.56 |
| 177 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.56 |
| 178 | Essential thrombocythemia | Enrichment | TP53 | 1.56 |
| 179 | Glioma susceptibility 1 | Enrichment | TP53 | 1.50 |
| 180 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.50 |
| 181 | Mitochondrial dna depletion syndrome 4b | Enrichment | RANBP2 | 1.50 |
| 182 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.50 |
| 183 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.50 |
| 184 | Charge syndrome | Enrichment | EP300 | 1.45 |
| 185 | Inflammatory bowel disease 1 | Enrichment | ERCC2 | 1.45 |
| 186 | Primary hyperaldosteronism | Enrichment | TP53 | 1.45 |
| 187 | Colonic benign neoplasm | Enrichment | ATM | 1.45 |
| 188 | Hypotrichosis simplex | Enrichment | ERCC2 | 1.45 |
| 189 | Breast cancer | Enrichment | ATM, TP53 | 1.45 |
| 190 | Lynch syndrome 1 | Enrichment | ATM | 1.41 |
| 191 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.41 |
| 192 | Melanoma | Enrichment | CDKN2A | 1.41 |
| 193 | Familial colorectal cancer | Enrichment | TP53 | 1.41 |
| 194 | Immune deficiency disease | Enrichment | ATM | 1.37 |
| 195 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.37 |
| 196 | Myelodysplastic syndrome | Enrichment | TP53 | 1.37 |
| 197 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.37 |
| 198 | Uterine corpus cancer | Enrichment | ATM | 1.37 |
| 199 | Familial colorectal cancer type x | Enrichment | ATM | 1.37 |
| 200 | Breast-ovarian cancer, familial 1 | Enrichment | ATM | 1.30 |
| 201 | Medulloblastoma | Enrichment | CTNNB1 | 1.26 |
| 202 | Seckel syndrome | Enrichment | ATR | 1.26 |
| 203 | Heart disease | Enrichment | CREBBP | 1.26 |
| 204 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1 | 1.26 |
| 205 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.24 |
| 206 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.24 |
| 207 | Rhabdomyosarcoma | Enrichment | TP53 | 1.21 |
| 208 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A | 1.18 |
| 209 | Polycystic liver disease | Enrichment | CTNNB1 | 1.18 |
| 210 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.18 |
| 211 | Congenital nervous system abnormality | Enrichment | CREBBP, CTNNB1 | 1.18 |
| 212 | Nervous system disease | Enrichment | CREBBP, CTNNB1 | 1.18 |
| 213 | Leukodystrophy | Enrichment | ERCC2 | 1.12 |
| 214 | Endometrial cancer | Enrichment | ATM | 1.09 |
| 215 | Microcephaly | Enrichment | CTNNB1, EP300 | 1.07 |
| 216 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.06 |
| 217 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A | 1.06 |
| 218 | Scoliosis | Enrichment | CREBBP | 1.04 |
| 219 | Tetralogy of fallot | Enrichment | KDR | 1.01 |
| 220 | Nephronophthisis | Enrichment | PIAS1 | 0.91 |
| 221 | Diamond-blackfan anemia | Enrichment | TP53 | 0.87 |
| 222 | Leukemia, acute myeloid | Enrichment | TP53 | 0.83 |
| 223 | Charcot-marie-tooth disease | Enrichment | HSPB1 | 0.82 |
| 224 | Familial isolated dilated cardiomyopathy | Enrichment | FHL2 | 0.72 |
| 225 | Primary ovarian insufficiency | Enrichment | KDR | 0.68 |
| 226 | Autism | Enrichment | CREBBP | 0.60 |