| 1 | Bladder cancer | Enrichment | ARID1A, ATM, BRCA1, ERBB2, HRAS, KDM6A, PIK3CA, PTEN, TP53 | 10.82 |
| 2 | Myeloma, multiple | Enrichment | ATM, BCORL1, CREBBP, H1-4, H2AC16, KMT2C, MGA, TP53 | 9.76 |
| 3 | Colorectal cancer | Enrichment | AKT1, ARID1A, ATM, BRCA1, EP300, ERBB2, FBXW7, PIK3CA, TP53 | 9.68 |
| 4 | Gastric cancer | Enrichment | ATM, BRCA1, ERBB2, PIK3CA, PTEN, TP53 | 7.42 |
| 5 | Hereditary breast carcinoma | Enrichment | AKT1, ATM, BRCA1, PIK3CA, PTEN, TP53 | 7.36 |
| 6 | Adenoid cystic carcinoma | Enrichment | MYB, MYBL1, NFIB | 7.04 |
| 7 | Prostate cancer | Enrichment | ATM, BRCA1, PIK3CA, PTEN, TP53 | 6.73 |
| 8 | Meningioma | Enrichment | AKT1, PIK3CA, PTEN, SMARCE1 | 6.72 |
| 9 | Ovarian cancer | Enrichment | AKT1, ATM, BRCA1, ERBB2, PIK3CA, PTEN, TP53 | 6.44 |
| 10 | Rhabdomyosarcoma | Enrichment | BRCA1, HRAS, PTEN, TP53 | 6.16 |
| 11 | Breast cancer | Enrichment | AKT1, ATM, BRCA1, PIK3CA, PTEN, TP53 | 5.95 |
| 12 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA, TP53 | 5.74 |
| 13 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BRCA1, CEBPA, MAX, PTEN, SMARCE1, TP53 | 5.65 |
| 14 | Endometrial cancer | Enrichment | ATM, BRCA1, PIK3CA, PTEN | 5.65 |
| 15 | Cowden syndrome | Enrichment | AKT1, PIK3CA, PTEN | 5.13 |
| 16 | Autism spectrum disorder | Enrichment | CNTN6, KAT6A, KDM6A, KMT2C, PTEN, SETD2 | 5.00 |
| 17 | Lung non-small cell carcinoma | Enrichment | ERBB2, HRAS, PIK3CA | 4.84 |
| 18 | Uterine corpus cancer | Enrichment | ATM, BRCA1, PTEN | 4.84 |
| 19 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA, TP53 | 4.71 |
| 20 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP, KAT6A | 4.69 |
| 21 | Leukemia, acute myeloid | Enrichment | BCOR, CEBPA, NSD1, TP53 | 4.50 |
| 22 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, MAP2K2, RAF1 | 4.40 |
| 23 | Koolen-de vries syndrome | Enrichment | ATM, KANSL1 | 4.21 |
| 24 | Atypical teratoid rhabdoid tumor | Enrichment | ATRX, TP53 | 4.21 |
| 25 | Anaplastic astrocytoma | Enrichment | ATRX, TP53 | 4.21 |
| 26 | Adenocarcinoma | Enrichment | ATM, TP53 | 4.21 |
| 27 | Keratoacanthoma | Enrichment | NOTCH1, PIK3CA | 4.21 |
| 28 | Diffuse large b-cell lymphoma | Enrichment | CREBBP, PTEN, TP53 | 4.08 |
| 29 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BRCA1, PTEN, TP53 | 3.95 |
| 30 | Noonan syndrome 1 | Enrichment | HRAS, MAP2K2, RAF1 | 3.82 |
| 31 | Pancreatic cancer | Enrichment | ATM, BRCA1, TP53 | 3.71 |
| 32 | Acute megakaryocytic leukemia | Enrichment | PTEN, TP53 | 3.69 |
| 33 | Hemimegalencephaly | Enrichment | PIK3CA, PTEN | 3.69 |
| 34 | Hydrops fetalis, nonimmune | Enrichment | ARID1A, HRAS, NSD1 | 3.66 |
| 35 | Rasopathy | Enrichment | HRAS, MAP2K2, RAF1 | 3.66 |
| 36 | Cowden syndrome 1 | Enrichment | PIK3CA, PTEN | 3.52 |
| 37 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 3.52 |
| 38 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 3.52 |
| 39 | Non-immune hydrops fetalis | Enrichment | ARID1A, HRAS, NSD1 | 3.43 |
| 40 | Lung cancer | Enrichment | BRCA1, ERBB2, PIK3CA | 3.39 |
| 41 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 3.37 |
| 42 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, PTEN | 3.37 |
| 43 | Squamous cell carcinoma, head and neck | Enrichment | PTEN, TP53 | 3.37 |
| 44 | Noonan syndrome 3 | Enrichment | HRAS, RAF1 | 3.37 |
| 45 | Gallbladder cancer | Enrichment | PIK3CA, TP53 | 3.37 |
| 46 | Follicular thyroid carcinoma | Enrichment | HRAS, PTEN | 3.37 |
| 47 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 3.25 |
| 48 | Glioma susceptibility 1 | Enrichment | ERBB2, TP53 | 3.25 |
| 49 | Charge syndrome | Enrichment | EP300, KDM6A | 3.14 |
| 50 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 3.14 |
| 51 | Adult hepatocellular carcinoma | Enrichment | PIK3CA, TP53 | 3.14 |
| 52 | Primary hyperaldosteronism | Enrichment | ATRX, TP53 | 3.14 |
| 53 | Leukemia, chronic lymphocytic | Enrichment | ATM, TP53 | 3.04 |
| 54 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 3.04 |
| 55 | Meningioma, familial | Enrichment | PTEN, SMARCE1 | 2.96 |
| 56 | Congenital nervous system abnormality | Enrichment | ATRX, CREBBP, PTEN, SMC1A | 2.86 |
| 57 | Nervous system disease | Enrichment | ATRX, CREBBP, PTEN, SMC1A | 2.86 |
| 58 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1 | 2.81 |
| 59 | Lung cancer susceptibility 3 | Enrichment | ERBB2, TP53 | 2.74 |
| 60 | Coffin-siris syndrome 1 | Enrichment | ARID1A, SMARCE1 | 2.68 |
| 61 | Renal cell carcinoma, nonpapillary | Enrichment | ATM, SETD2 | 2.68 |
| 62 | Corpus callosum, agenesis of | Enrichment | CREBBP, SETD2 | 2.68 |
| 63 | Isolated corpus callosum agenesis | Enrichment | CREBBP, SETD2 | 2.68 |
| 64 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300 | 2.68 |
| 65 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP, SETD2 | 2.68 |
| 66 | Gliosarcoma | Enrichment | ATM, TP53 | 2.63 |
| 67 | Microcephaly | Enrichment | ARID1A, ATRX, EP300, SMC1A | 2.62 |
| 68 | Giant cell glioblastoma | Enrichment | ATM, TP53 | 2.57 |
| 69 | Hepatocellular carcinoma | Enrichment | PIK3CA, TP53 | 2.35 |
| 70 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.34 |
| 71 | Macrodactyly | Enrichment | PIK3CA | 2.34 |
| 72 | Proteus syndrome | Enrichment | AKT1 | 2.34 |
| 73 | Paget disease, extramammary | Enrichment | ERBB2 | 2.34 |
| 74 | Floating-harbor syndrome | Enrichment | SRCAP | 2.34 |
| 75 | Developmental and epileptic encephalopathy 85 with or without midline brain defects | Enrichment | SMC1A | 2.34 |
| 76 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.34 |
| 77 | Shukla-vernon syndrome | Enrichment | BCORL1 | 2.34 |
| 78 | Kabuki syndrome 2 | Enrichment | KDM6A | 2.34 |
| 79 | Noonan syndrome 5 | Enrichment | RAF1 | 2.34 |
| 80 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.34 |
| 81 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.34 |
| 82 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.34 |
| 83 | Coffin-siris syndrome 5 | Enrichment | SMARCE1 | 2.34 |
| 84 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.34 |
| 85 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.34 |
| 86 | Intellectual disability-hypotonic facies syndrome, x-linked, 1 | Enrichment | ATRX | 2.34 |
| 87 | Intellectual developmental disorder, autosomal dominant 70 | Enrichment | SETD2 | 2.34 |
| 88 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.34 |
| 89 | Macrocephaly, acquired, with impaired intellectual development | Enrichment | NFIB | 2.34 |
| 90 | Papilloma of choroid plexus | Enrichment | TP53 | 2.34 |
| 91 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.34 |
| 92 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.34 |
| 93 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.34 |
| 94 | Metacarpal 4-5 fusion | Enrichment | FGF16 | 2.34 |
| 95 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.34 |
| 96 | Rahman syndrome | Enrichment | H1-4 | 2.34 |
| 97 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.34 |
| 98 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.34 |
| 99 | Leopard syndrome 2 | Enrichment | RAF1 | 2.34 |
| 100 | Immunodeficiency 26 with or without neurologic abnormalities | Enrichment | PRKDC | 2.34 |
| 101 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.34 |
| 102 | Polydactyly-macrocephaly syndrome | Enrichment | MAX | 2.34 |
| 103 | Cowden syndrome 6 | Enrichment | AKT1 | 2.34 |
| 104 | Hypogonadotropic hypogonadism 18 with or without anosmia | Enrichment | IL17RD | 2.34 |
| 105 | Arboleda-tham syndrome | Enrichment | KAT6A | 2.34 |
| 106 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.34 |
| 107 | Glioma susceptibility 2 | Enrichment | PTEN | 2.34 |
| 108 | Ductal carcinoma in situ | Enrichment | TP53 | 2.34 |
| 109 | Kleefstra syndrome 2 | Enrichment | KMT2C | 2.34 |
| 110 | Blepharophimosis-impaired intellectual development syndrome | Enrichment | SMARCA2 | 2.34 |
| 111 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.34 |
| 112 | Trigonitis | Enrichment | RAF1 | 2.34 |
| 113 | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | Enrichment | SRCAP | 2.34 |
| 114 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.34 |
| 115 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.34 |
| 116 | Luscan-lumish syndrome | Enrichment | SETD2 | 2.34 |
| 117 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.34 |
| 118 | Developmental delay, hypotonia, and impaired language | Enrichment | FBXW7 | 2.34 |
| 119 | Rabin-pappas syndrome | Enrichment | SETD2 | 2.34 |
| 120 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.34 |
| 121 | Hypospadias | Enrichment | PIK3CA | 2.34 |
| 122 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.34 |
| 123 | Premature ovarian failure 26 | Enrichment | MGA | 2.34 |
| 124 | Facial cleft | Enrichment | SMARCE1 | 2.34 |
| 125 | Gastric neuroendocrine neoplasm | Enrichment | ATRX | 2.34 |
| 126 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.34 |
| 127 | Choroid plexus cancer | Enrichment | TP53 | 2.34 |
| 128 | Rare venous malformation | Enrichment | PIK3CA | 2.34 |
| 129 | Central nervous system germinoma | Enrichment | JMJD1C | 2.34 |
| 130 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.34 |
| 131 | Oligoasthenoteratozoospermia | Enrichment | BCORL1 | 2.34 |
| 132 | Acute myeloid leukemia with mutated cebpa | Enrichment | CEBPA | 2.34 |
| 133 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.34 |
| 134 | 7q31 microdeletion syndrome | Enrichment | FOXP2 | 2.34 |
| 135 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.34 |
| 136 | 5q35 microduplication syndrome | Enrichment | NSD1 | 2.34 |
| 137 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.34 |
| 138 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.34 |
| 139 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.34 |
| 140 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.34 |
| 141 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.34 |
| 142 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.34 |
| 143 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.34 |
| 144 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.34 |
| 145 | Autosomal dominant combined immunodeficiency due to erbin deficiency | Enrichment | ERBIN | 2.34 |
| 146 | Macrodactyly of toe | Enrichment | PIK3CA | 2.34 |
| 147 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.34 |
| 148 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.34 |
| 149 | Scoliosis | Enrichment | CREBBP, NSD1 | 2.27 |
| 150 | Holoprosencephaly 2 | Enrichment | NSD1 | 2.04 |
| 151 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.04 |
| 152 | Costello syndrome | Enrichment | HRAS | 2.04 |
| 153 | Thumb deformity | Enrichment | CREBBP | 2.04 |
| 154 | Microphthalmia, syndromic 1 | Enrichment | BCOR | 2.04 |
| 155 | Microphthalmia, syndromic 2 | Enrichment | BCOR | 2.04 |
| 156 | Cervical cancer | Enrichment | TP53 | 2.04 |
| 157 | Cornelia de lange syndrome 2 | Enrichment | SMC1A | 2.04 |
| 158 | Alpha-thalassemia myelodysplasia syndrome | Enrichment | ATRX | 2.04 |
| 159 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.04 |
| 160 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 2.04 |
| 161 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.04 |
| 162 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.04 |
| 163 | Alpha-thalassemia/impaired intellectual development syndrome, x-linked | Enrichment | ATRX | 2.04 |
| 164 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.04 |
| 165 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | Enrichment | CTBP1 | 2.04 |
| 166 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.04 |
| 167 | Nephrotic syndrome, type 15 | Enrichment | MAGI2 | 2.04 |
| 168 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.04 |
| 169 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.04 |
| 170 | Acute basophilic leukemia | Enrichment | MYB | 2.04 |
| 171 | Kleefstra syndrome | Enrichment | KMT2C | 2.04 |
| 172 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.04 |
| 173 | Congenital fibrosarcoma | Enrichment | TP53 | 2.04 |
| 174 | High grade glioma | Enrichment | ATM | 2.04 |
| 175 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.04 |
| 176 | Sarcoma | Enrichment | TP53 | 2.04 |
| 177 | Angiocentric glioma | Enrichment | MYB | 2.04 |
| 178 | Megalencephaly-polydactyly syndrome | Enrichment | MYCN | 2.04 |
| 179 | Cervix carcinoma | Enrichment | TP53 | 2.04 |
| 180 | Hodgkin's lymphoma | Enrichment | TP53 | 2.04 |
| 181 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.04 |
| 182 | Inflammatory breast carcinoma | Enrichment | BRCA1 | 2.04 |
| 183 | Stolerman neurodevelopmental syndrome | Enrichment | KDM6B | 2.04 |
| 184 | Blepharophimosis - intellectual disability syndrome | Enrichment | SMARCA2 | 2.04 |
| 185 | Alpha thalassemia-x-linked intellectual disability syndrome | Enrichment | ATRX | 2.04 |
| 186 | Peritoneum cancer | Enrichment | BRCA1 | 2.04 |
| 187 | Bilateral breast cancer | Enrichment | BRCA1 | 2.04 |
| 188 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.04 |
| 189 | Deletion 5q35 | Enrichment | NSD1 | 2.04 |
| 190 | Kleefstra syndrome due to a point mutation | Enrichment | KMT2C | 2.04 |
| 191 | Familial retinoblastoma | Enrichment | MYCN | 2.04 |
| 192 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.04 |
| 193 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.04 |
| 194 | Tafro syndrome | Enrichment | MAP2K2 | 2.04 |
| 195 | Wooly hair nevus | Enrichment | HRAS | 2.04 |
| 196 | Retinoblastoma | Enrichment | MYCN | 1.86 |
| 197 | Ataxia-telangiectasia | Enrichment | ATM | 1.86 |
| 198 | Polycythemia vera | Enrichment | ATM | 1.86 |
| 199 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.86 |
| 200 | Weaver syndrome | Enrichment | NSD1 | 1.86 |
| 201 | Osteogenic sarcoma | Enrichment | TP53 | 1.86 |
| 202 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.86 |
| 203 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 1.86 |
| 204 | Tethered spinal cord syndrome | Enrichment | CREBBP | 1.86 |
| 205 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.86 |
| 206 | Coffin-siris syndrome 2 | Enrichment | ARID1A | 1.86 |
| 207 | Alpha thalassemia-intellectual disability syndrome type 1 | Enrichment | ATRX | 1.86 |
| 208 | Squamous cell carcinoma | Enrichment | TP53 | 1.86 |
| 209 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 1.86 |
| 210 | Periventricular leukomalacia | Enrichment | ARID1A | 1.86 |
| 211 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.86 |
| 212 | Bone osteosarcoma | Enrichment | TP53 | 1.86 |
| 213 | Spermatocytoma | Enrichment | HRAS | 1.86 |
| 214 | Childhood apraxia of speech | Enrichment | FOXP2 | 1.86 |
| 215 | Spindle cell sarcoma | Enrichment | MGA | 1.86 |
| 216 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.74 |
| 217 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K2 | 1.74 |
| 218 | Small cell cancer of the lung | Enrichment | TP53 | 1.74 |
| 219 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.74 |
| 220 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1 | 1.74 |
| 221 | Nicolaides-baraitser syndrome | Enrichment | SMARCA2 | 1.74 |
| 222 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.74 |
| 223 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.74 |
| 224 | Cholangiocarcinoma | Enrichment | BRCA1 | 1.74 |
| 225 | Barrett esophagus | Enrichment | ERBB2 | 1.74 |
| 226 | Mantle cell lymphoma | Enrichment | ATM | 1.74 |
| 227 | Blepharophimosis | Enrichment | SMARCA2 | 1.74 |
| 228 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K2 | 1.74 |
| 229 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.74 |
| 230 | Cerebrovascular disease | Enrichment | PIK3CA | 1.74 |
| 231 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.74 |
| 232 | Sotos syndrome 1 | Enrichment | NSD1 | 1.74 |
| 233 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.74 |
| 234 | Epidermolytic nevus | Enrichment | HRAS | 1.74 |
| 235 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.74 |
| 236 | Smarca2-related nicolaides-baraitser syndrome | Enrichment | SMARCA2 | 1.74 |
| 237 | Glioma | Enrichment | PTEN | 1.74 |
| 238 | Oculomotor apraxia | Enrichment | ATM | 1.74 |
| 239 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.64 |
| 240 | Sotos syndrome | Enrichment | NSD1 | 1.64 |
| 241 | Feingold syndrome 1 | Enrichment | MYCN | 1.64 |
| 242 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.64 |
| 243 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.64 |
| 244 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1 | 1.64 |
| 245 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.64 |
| 246 | Pre-eclampsia | Enrichment | NSD1 | 1.64 |
| 247 | Pervasive developmental disorder | Enrichment | FBXW7 | 1.64 |
| 248 | Lymphoma | Enrichment | TP53 | 1.64 |
| 249 | Glioblastoma | Enrichment | ATM | 1.64 |
| 250 | Hemangioma | Enrichment | PTEN | 1.64 |
| 251 | Inherited acute myeloid leukemia | Enrichment | CEBPA | 1.64 |
| 252 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | CEBPA | 1.64 |
| 253 | Rare pervasive developmental disorder | Enrichment | FBXW7 | 1.64 |
| 254 | Hypertelorism | Enrichment | NSD1, PIK3CA | 1.63 |
| 255 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.57 |
| 256 | Li-fraumeni syndrome | Enrichment | TP53 | 1.57 |
| 257 | Kabuki syndrome 1 | Enrichment | KDM6A | 1.57 |
| 258 | Wolf-hirschhorn syndrome | Enrichment | CTBP1 | 1.57 |
| 259 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.57 |
| 260 | Wiedemann-steiner syndrome | Enrichment | SMC1A | 1.57 |
| 261 | Kleefstra syndrome 1 | Enrichment | KMT2C | 1.57 |
| 262 | Immunodeficiency-centromeric instability-facial anomalies syndrome | Enrichment | UHRF1 | 1.57 |
| 263 | Adrenocortical carcinoma | Enrichment | TP53 | 1.57 |
| 264 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.57 |
| 265 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.57 |
| 266 | Hypertrichosis | Enrichment | CREBBP | 1.57 |
| 267 | Kidney clear cell sarcoma | Enrichment | BCOR | 1.57 |
| 268 | Esophageal cancer | Enrichment | TP53 | 1.50 |
| 269 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.50 |
| 270 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.50 |
| 271 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.50 |
| 272 | Essential thrombocythemia | Enrichment | TP53 | 1.50 |
| 273 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.50 |
| 274 | Overgrowth syndrome | Enrichment | NSD1 | 1.50 |
| 275 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.50 |
| 276 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.44 |
| 277 | Rett syndrome, congenital variant | Enrichment | SMC1A | 1.44 |
| 278 | Neuroblastoma | Enrichment | MYCN | 1.44 |
| 279 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.44 |
| 280 | Cornelia de lange syndrome 1 | Enrichment | SMC1A | 1.39 |
| 281 | Colonic benign neoplasm | Enrichment | ATM | 1.39 |
| 282 | Cornelia de lange syndrome | Enrichment | SMC1A | 1.39 |
| 283 | Autism | Enrichment | CNTN6, CREBBP | 1.37 |
| 284 | Lynch syndrome 1 | Enrichment | ATM | 1.35 |
| 285 | Melanoma | Enrichment | PTEN | 1.35 |
| 286 | Familial colorectal cancer | Enrichment | TP53 | 1.35 |
| 287 | Immune deficiency disease | Enrichment | ATM | 1.31 |
| 288 | Myelodysplastic syndrome | Enrichment | TP53 | 1.31 |
| 289 | Familial colorectal cancer type x | Enrichment | ATM | 1.31 |
| 290 | Septooptic dysplasia | Enrichment | ARID1A | 1.27 |
| 291 | Digeorge syndrome | Enrichment | JMJD1C | 1.27 |
| 292 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.24 |
| 293 | Acute promyelocytic leukemia | Enrichment | BCOR | 1.24 |
| 294 | Pheochromocytoma | Enrichment | MAX | 1.21 |
| 295 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.21 |
| 296 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.21 |
| 297 | Heart disease | Enrichment | CREBBP | 1.21 |
| 298 | Pituitary stalk interruption syndrome | Enrichment | SMARCA2 | 1.21 |
| 299 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.18 |
| 300 | Lynch syndrome | Enrichment | PIK3CA | 1.18 |
| 301 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | ARID1A | 1.15 |
| 302 | Hydrocephalus, congenital, 1 | Enrichment | SETD2 | 1.15 |
| 303 | Dandy-walker syndrome | Enrichment | SETD2 | 1.13 |
| 304 | Syndromic intellectual disability | Enrichment | KAT6A | 1.13 |
| 305 | Beckwith-wiedemann syndrome | Enrichment | NSD1 | 1.10 |
| 306 | Semilobar holoprosencephaly | Enrichment | SMC1A | 1.10 |
| 307 | Arteriovenous malformations of the brain | Enrichment | IL17RD | 1.08 |
| 308 | Craniosynostosis | Enrichment | KAT6A | 1.06 |
| 309 | Hepatoblastoma | Enrichment | TP53 | 1.04 |
| 310 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | MAX | 1.04 |
| 311 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.00 |
| 312 | Kallmann syndrome | Enrichment | IL17RD | 1.00 |
| 313 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYB | 1.00 |
| 314 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.98 |
| 315 | Complex neurodevelopmental disorder | Enrichment | BCORL1, SRCAP | 0.96 |
| 316 | Tetralogy of fallot | Enrichment | NOTCH1 | 0.95 |
| 317 | Auditory neuropathy | Enrichment | H1-4 | 0.95 |
| 318 | Hirschsprung disease 1 | Enrichment | ERBB2 | 0.90 |
| 319 | Differentiated thyroid carcinoma | Enrichment | HRAS | 0.90 |
| 320 | Connective tissue disease | Enrichment | NOTCH1 | 0.86 |
| 321 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.85 |
| 322 | Genetic steroid-resistant nephrotic syndrome | Enrichment | MAGI2 | 0.84 |
| 323 | Fanconi anemia, complementation group a | Enrichment | BRCA1 | 0.83 |
| 324 | Left ventricular noncompaction | Enrichment | RAF1 | 0.83 |
| 325 | Diamond-blackfan anemia | Enrichment | TP53 | 0.82 |
| 326 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1 | 0.74 |
| 327 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.67 |
| 328 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | ATRX | 0.64 |
| 329 | Schizophrenia | Enrichment | CNTN6 | 0.62 |
| 330 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.51 |