| 1 | Li-fraumeni syndrome | Enrichment | CHEK2, MDM2, TP53 | 7.26 |
| 2 | Li-fraumeni syndrome 1 | Enrichment | CHEK2, TP53 | 5.69 |
| 3 | Sarcoma | Enrichment | CHEK2, TP53 | 5.69 |
| 4 | Diffuse large b-cell lymphoma | Enrichment | CHEK2, CREBBP, TP53 | 5.58 |
| 5 | Osteogenic sarcoma | Enrichment | CHEK2, TP53 | 5.21 |
| 6 | Bone osteosarcoma | Enrichment | CHEK2, TP53 | 5.21 |
| 7 | Colorectal cancer | Enrichment | AKT1, CHEK2, EP300, TP53 | 5.15 |
| 8 | Nasopharyngeal carcinoma | Enrichment | NFKBIA, TP53 | 4.74 |
| 9 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 4.51 |
| 10 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 4.51 |
| 11 | Breast adenocarcinoma | Enrichment | AKT1, TP53 | 4.51 |
| 12 | Hereditary breast carcinoma | Enrichment | AKT1, CHEK2, TP53 | 4.46 |
| 13 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 3.90 |
| 14 | Breast cancer | Enrichment | AKT1, CHEK2, TP53 | 3.76 |
| 15 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300 | 3.67 |
| 16 | Primary hyperaldosteronism | Enrichment | NR3C1, TP53 | 3.66 |
| 17 | Ovarian cancer | Enrichment | AKT1, CHEK2, TP53 | 3.38 |
| 18 | Tooth agenesis | Enrichment | RANBP2, SUMO1 | 3.33 |
| 19 | Pancreatic cancer | Enrichment | CHEK2, TP53 | 3.22 |
| 20 | Gliosarcoma | Enrichment | NFKBIA, TP53 | 3.15 |
| 21 | Giant cell glioblastoma | Enrichment | NFKBIA, TP53 | 3.09 |
| 22 | Prostate cancer | Enrichment | CHEK2, TP53 | 3.09 |
| 23 | Proteus syndrome | Enrichment | AKT1 | 2.83 |
| 24 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.83 |
| 25 | Accelerated tumor formation | Enrichment | MDM2 | 2.83 |
| 26 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.83 |
| 27 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.83 |
| 28 | Orofacial cleft 10 | Enrichment | SUMO1 | 2.83 |
| 29 | Papilloma of choroid plexus | Enrichment | TP53 | 2.83 |
| 30 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.83 |
| 31 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.83 |
| 32 | Tumor predisposition syndrome 4 | Enrichment | CHEK2 | 2.83 |
| 33 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.83 |
| 34 | Cowden syndrome 6 | Enrichment | AKT1 | 2.83 |
| 35 | Ductal carcinoma in situ | Enrichment | TP53 | 2.83 |
| 36 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.83 |
| 37 | Leiomyosarcoma | Enrichment | CHEK2 | 2.83 |
| 38 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.83 |
| 39 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.83 |
| 40 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.83 |
| 41 | Capillary hemangioma | Enrichment | AKT3 | 2.83 |
| 42 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.83 |
| 43 | Choroid plexus cancer | Enrichment | TP53 | 2.83 |
| 44 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.83 |
| 45 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.83 |
| 46 | Familial acute necrotizing encephalopathy | Enrichment | RANBP2 | 2.83 |
| 47 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.83 |
| 48 | Gastric cancer | Enrichment | CHEK2, TP53 | 2.75 |
| 49 | B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | Enrichment | TOP2B | 2.60 |
| 50 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.60 |
| 51 | Immunodeficiency 92 | Enrichment | REL | 2.60 |
| 52 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.60 |
| 53 | Immunodeficiency 53 | Enrichment | RELB | 2.60 |
| 54 | Hereditary breast ovarian cancer syndrome | Enrichment | CHEK2, TP53 | 2.53 |
| 55 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.53 |
| 56 | Thumb deformity | Enrichment | CREBBP | 2.53 |
| 57 | Cervical cancer | Enrichment | TP53 | 2.53 |
| 58 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.53 |
| 59 | Congenital heart defects, multiple types, 3 | Enrichment | CHEK2 | 2.53 |
| 60 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.53 |
| 61 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.53 |
| 62 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.53 |
| 63 | Congenital fibrosarcoma | Enrichment | TP53 | 2.53 |
| 64 | Chromosome 19q13.11 deletion syndrome, distal | Enrichment | UBA2 | 2.53 |
| 65 | Cervix carcinoma | Enrichment | TP53 | 2.53 |
| 66 | Hodgkin's lymphoma | Enrichment | TP53 | 2.53 |
| 67 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.53 |
| 68 | Acute necrotizing encephalopathy of childhood | Enrichment | RANBP2 | 2.53 |
| 69 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.53 |
| 70 | Submucosal cleft palate | Enrichment | UBB | 2.53 |
| 71 | Cleft hard palate | Enrichment | UBB | 2.53 |
| 72 | Myeloma, multiple | Enrichment | CREBBP, TP53 | 2.52 |
| 73 | Aplasia cutis congenita, nonsyndromic | Enrichment | UBA2 | 2.35 |
| 74 | Uvula, bifid | Enrichment | UBB | 2.35 |
| 75 | Cleft soft palate | Enrichment | UBB | 2.35 |
| 76 | Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | RANBP2 | 2.35 |
| 77 | Tethered spinal cord syndrome | Enrichment | CREBBP | 2.35 |
| 78 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 2.35 |
| 79 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.35 |
| 80 | Anaplastic astrocytoma | Enrichment | TP53 | 2.35 |
| 81 | Squamous cell carcinoma | Enrichment | TP53 | 2.35 |
| 82 | Adenocarcinoma | Enrichment | TP53 | 2.35 |
| 83 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 2.35 |
| 84 | Well-differentiated liposarcoma | Enrichment | MDM2 | 2.35 |
| 85 | Galactosemia ii | Enrichment | NR3C1 | 2.30 |
| 86 | Nephronophthisis-like nephropathy 1 | Enrichment | RANGAP1 | 2.30 |
| 87 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.30 |
| 88 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.30 |
| 89 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 2.30 |
| 90 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.30 |
| 91 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.30 |
| 92 | Acute basophilic leukemia | Enrichment | MYB | 2.30 |
| 93 | Ectodermal dysplasia and immune deficiency | Enrichment | NFKBIA | 2.30 |
| 94 | Angiocentric glioma | Enrichment | MYB | 2.30 |
| 95 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.30 |
| 96 | Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | RANBP2 | 2.23 |
| 97 | Small cell cancer of the lung | Enrichment | TP53 | 2.23 |
| 98 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 2.23 |
| 99 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3 | 2.23 |
| 100 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 2.23 |
| 101 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 2.23 |
| 102 | Ectodermal dysplasia | Enrichment | RANBP2 | 2.23 |
| 103 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 2.23 |
| 104 | Hemoglobin c disease | Enrichment | CHEK2 | 2.23 |
| 105 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | RANBP2 | 2.13 |
| 106 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 2.13 |
| 107 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 2.13 |
| 108 | Lymphoma | Enrichment | TP53 | 2.13 |
| 109 | Aplasia cutis congenita | Enrichment | UBA2 | 2.13 |
| 110 | Acute megakaryocytic leukemia | Enrichment | TP53 | 2.13 |
| 111 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | Enrichment | RANBP2 | 2.13 |
| 112 | Hemimegalencephaly | Enrichment | AKT3 | 2.13 |
| 113 | Adenoid cystic carcinoma | Enrichment | MYB | 2.12 |
| 114 | Vogt-koyanagi-harada disease | Enrichment | FAS | 2.12 |
| 115 | Wilms tumor 5 | Enrichment | CHEK2 | 2.05 |
| 116 | Inflammatory myofibroblastic tumor | Enrichment | RANBP2 | 2.05 |
| 117 | Adrenocortical carcinoma | Enrichment | TP53 | 2.05 |
| 118 | Hypertrichosis | Enrichment | CREBBP | 2.05 |
| 119 | Autoimmune lymphoproliferative syndrome | Enrichment | FAS | 2.00 |
| 120 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 2.00 |
| 121 | Esophageal cancer | Enrichment | TP53 | 1.99 |
| 122 | Mitochondrial dna depletion syndrome 4a | Enrichment | RANBP2 | 1.99 |
| 123 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.99 |
| 124 | Essential thrombocythemia | Enrichment | TP53 | 1.99 |
| 125 | Gallbladder cancer | Enrichment | TP53 | 1.99 |
| 126 | Megacolon | Enrichment | AKT3 | 1.99 |
| 127 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.99 |
| 128 | Glioma susceptibility 1 | Enrichment | TP53 | 1.93 |
| 129 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.93 |
| 130 | Mitochondrial dna depletion syndrome 4b | Enrichment | RANBP2 | 1.93 |
| 131 | Charge syndrome | Enrichment | EP300 | 1.88 |
| 132 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.88 |
| 133 | Colonic benign neoplasm | Enrichment | CHEK2 | 1.88 |
| 134 | Cowden syndrome | Enrichment | AKT1 | 1.88 |
| 135 | Lynch syndrome 1 | Enrichment | CHEK2 | 1.83 |
| 136 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.83 |
| 137 | Polymicrogyria | Enrichment | AKT3 | 1.83 |
| 138 | Melanoma | Enrichment | CHEK2 | 1.83 |
| 139 | Familial colorectal cancer | Enrichment | TP53 | 1.83 |
| 140 | Inherited cancer-predisposing syndrome | Enrichment | CHEK2, TP53 | 1.80 |
| 141 | Myelodysplastic syndrome | Enrichment | TP53 | 1.79 |
| 142 | Uterine corpus cancer | Enrichment | CHEK2 | 1.79 |
| 143 | Familial colorectal cancer type x | Enrichment | CHEK2 | 1.79 |
| 144 | Meningioma | Enrichment | AKT1 | 1.76 |
| 145 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.76 |
| 146 | Breast-ovarian cancer, familial 1 | Enrichment | CHEK2 | 1.72 |
| 147 | Acute promyelocytic leukemia | Enrichment | PML | 1.72 |
| 148 | Nk-cell enteropathy | Enrichment | CHEK2 | 1.72 |
| 149 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.69 |
| 150 | Heart disease | Enrichment | CREBBP | 1.69 |
| 151 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.66 |
| 152 | Wilms tumor 1 | Enrichment | CHEK2 | 1.66 |
| 153 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.66 |
| 154 | Lynch syndrome | Enrichment | CHEK2 | 1.66 |
| 155 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.66 |
| 156 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.66 |
| 157 | Rhabdomyosarcoma | Enrichment | TP53 | 1.63 |
| 158 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.61 |
| 159 | Endometrial cancer | Enrichment | CHEK2 | 1.52 |
| 160 | Hepatoblastoma | Enrichment | TP53 | 1.52 |
| 161 | Hepatocellular carcinoma | Enrichment | TP53 | 1.50 |
| 162 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.48 |
| 163 | Scoliosis | Enrichment | CREBBP | 1.46 |
| 164 | Bladder cancer | Enrichment | TP53 | 1.38 |
| 165 | Lung cancer | Enrichment | CHEK2 | 1.34 |
| 166 | Behcet syndrome | Enrichment | FAS | 1.33 |
| 167 | Nephronophthisis | Enrichment | PIAS1 | 1.32 |
| 168 | Diamond-blackfan anemia | Enrichment | TP53 | 1.29 |
| 169 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYB | 1.25 |
| 170 | Leukemia, acute myeloid | Enrichment | TP53 | 1.24 |
| 171 | Type 2 diabetes mellitus | Enrichment | AKT2 | 1.22 |
| 172 | Primary ovarian insufficiency | Enrichment | CHEK2 | 1.08 |
| 173 | Autism | Enrichment | CREBBP | 1.00 |
| 174 | Congenital nervous system abnormality | Enrichment | CREBBP | 0.84 |
| 175 | Nervous system disease | Enrichment | CREBBP | 0.84 |
| 176 | Microcephaly | Enrichment | EP300 | 0.78 |
| 177 | Autism spectrum disorder | Enrichment | TOP2B | 0.62 |