| 1 | Bladder cancer | Enrichment | ATM, CDKN1A, CTNNB1, ERBB2, HRAS, KRAS, PIK3CA, PTEN, TP53 | 16.00 |
| 2 | Colorectal cancer | Enrichment | APC, ATM, BAX, CCND1, CTNNB1, ERBB2, NRAS, PIK3CA, PIK3R1, SMAD4, TP53 | 10.51 |
| 3 | Gallbladder cancer | Enrichment | CTNNB1, KRAS, PIK3CA, SMAD4, TP53 | 9.36 |
| 4 | Gastric cancer | Enrichment | APC, ATM, ERBB2, KRAS, PIK3CA, PTEN, SMAD4, TP53 | 9.08 |
| 5 | Ovarian cancer | Enrichment | APC, ATM, CDKN1B, CTNNB1, ERBB2, KRAS, MAP3K1, PIK3CA, PTEN, TP53 | 8.44 |
| 6 | Lung non-small cell carcinoma | Enrichment | ERBB2, HRAS, KRAS, NRAS, PIK3CA | 8.04 |
| 7 | Breast cancer | Enrichment | APC, ATM, JUN, KRAS, PIK3CA, PTEN, SHC1, TP53 | 7.10 |
| 8 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 7.00 |
| 9 | Adult hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1, PIK3CA, TP53 | 6.45 |
| 10 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2, BCL6, MYC | 6.40 |
| 11 | Hepatocellular carcinoma | Enrichment | APC, AXIN1, CTNNB1, PIK3CA, TP53 | 6.31 |
| 12 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS, SOS1, SOS2 | 6.20 |
| 13 | Hereditary breast carcinoma | Enrichment | APC, ATM, KRAS, PIK3CA, PTEN, TP53 | 6.08 |
| 14 | Rasopathy | Enrichment | HRAS, KRAS, NRAS, SOS1, SOS2 | 5.92 |
| 15 | Lip and oral cavity carcinoma | Enrichment | ABL1, HRAS, PIK3CA, TP53 | 5.86 |
| 16 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 5.80 |
| 17 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1, DVL3, WNT5A | 5.80 |
| 18 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1, KRAS, NRAS | 5.80 |
| 19 | Autosomal dominant robinow syndrome | Enrichment | DVL1, DVL3, WNT5A | 5.80 |
| 20 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS, SOS1 | 5.43 |
| 21 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1, DVL3, WNT5A | 5.40 |
| 22 | Cowden syndrome 1 | Enrichment | LDLR, PIK3CA, PTEN | 5.10 |
| 23 | Autosomal recessive robinow syndrome | Enrichment | DVL1, DVL3, WNT5A | 5.10 |
| 24 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA, TP53 | 5.10 |
| 25 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS, PTEN | 4.86 |
| 26 | Leukemia, chronic myeloid | Enrichment | ABL1, KRAS, NRAS | 4.86 |
| 27 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 4.86 |
| 28 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS, PTEN | 4.86 |
| 29 | Pancreatic cancer | Enrichment | ATM, KRAS, SMAD4, TP53 | 4.49 |
| 30 | Leukemia, chronic lymphocytic | Enrichment | ATM, CCND1, TP53 | 4.33 |
| 31 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.26 |
| 32 | Intravascular large b-cell lymphoma | Enrichment | BCL2, BCL6 | 4.26 |
| 33 | Immune system disease | Enrichment | CDC42, PIK3CD | 4.26 |
| 34 | Myeloma, multiple | Enrichment | ATM, CCND1, KRAS, PIK3R2, TP53 | 4.23 |
| 35 | Prostate cancer | Enrichment | ATM, PIK3CA, PTEN, TP53 | 4.22 |
| 36 | Lung cancer | Enrichment | ERBB2, FASLG, KRAS, PIK3CA | 4.05 |
| 37 | Lung cancer susceptibility 3 | Enrichment | ERBB2, KRAS, TP53 | 3.86 |
| 38 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 3.79 |
| 39 | Osteoporosis, juvenile | Enrichment | WNT1, WNT3A | 3.79 |
| 40 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 3.79 |
| 41 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 3.79 |
| 42 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 3.79 |
| 43 | Desmoid tumor | Enrichment | APC, CTNNB1 | 3.79 |
| 44 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 3.79 |
| 45 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1, BAX | 3.79 |
| 46 | Adenocarcinoma | Enrichment | ATM, TP53 | 3.79 |
| 47 | Rhabdomyosarcoma | Enrichment | HRAS, PTEN, TP53 | 3.68 |
| 48 | Small cell cancer of the lung | Enrichment | TP53, TP73 | 3.49 |
| 49 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 3.49 |
| 50 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | CCND2, PIK3R2 | 3.49 |
| 51 | Mantle cell lymphoma | Enrichment | ATM, CCND1 | 3.49 |
| 52 | Lung sarcomatoid carcinoma | Enrichment | KRAS, TP53 | 3.49 |
| 53 | Craniopharyngioma | Enrichment | APC, CTNNB1 | 3.49 |
| 54 | Inherited cancer-predisposing syndrome | Enrichment | APC, ATM, CDKN1B, PTEN, SMAD4, TP53 | 3.35 |
| 55 | Endometrial cancer | Enrichment | ATM, PIK3CA, PTEN | 3.32 |
| 56 | Hepatoblastoma | Enrichment | APC, CTNNB1, TP53 | 3.32 |
| 57 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1, DVL3 | 3.27 |
| 58 | Follicular lymphoma | Enrichment | BCL2, BCL6 | 3.27 |
| 59 | Acute megakaryocytic leukemia | Enrichment | PTEN, TP53 | 3.27 |
| 60 | Hemimegalencephaly | Enrichment | PIK3CA, PTEN | 3.27 |
| 61 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, KRAS, PTEN, TP53 | 3.13 |
| 62 | Li-fraumeni syndrome | Enrichment | MDM2, TP53 | 3.09 |
| 63 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.09 |
| 64 | Adrenocortical carcinoma | Enrichment | CTNNB1, TP53 | 3.09 |
| 65 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 3.09 |
| 66 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B | 2.95 |
| 67 | Squamous cell carcinoma, head and neck | Enrichment | PTEN, TP53 | 2.95 |
| 68 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 2.95 |
| 69 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1, TP53 | 2.95 |
| 70 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 2.90 |
| 71 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 2.83 |
| 72 | Glioma susceptibility 1 | Enrichment | ERBB2, TP53 | 2.83 |
| 73 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 2.72 |
| 74 | Colonic benign neoplasm | Enrichment | APC, ATM | 2.72 |
| 75 | Cowden syndrome | Enrichment | PIK3CA, PTEN | 2.72 |
| 76 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 2.62 |
| 77 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 2.62 |
| 78 | Uterine corpus cancer | Enrichment | ATM, PTEN | 2.54 |
| 79 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS, TP53 | 2.49 |
| 80 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 2.46 |
| 81 | Meningioma | Enrichment | PIK3CA, PTEN | 2.46 |
| 82 | Type 2 diabetes mellitus | Enrichment | INSR, IRS1, TCF7L2 | 2.43 |
| 83 | Medulloblastoma | Enrichment | APC, CTNNB1 | 2.33 |
| 84 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1, SOS1 | 2.33 |
| 85 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 2.27 |
| 86 | Gliosarcoma | Enrichment | ATM, TP53 | 2.21 |
| 87 | Giant cell glioblastoma | Enrichment | ATM, TP53 | 2.16 |
| 88 | Macrodactyly | Enrichment | PIK3CA | 2.13 |
| 89 | Paget disease, extramammary | Enrichment | ERBB2 | 2.13 |
| 90 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.13 |
| 91 | Mullerian aplasia and hyperandrogenism | Enrichment | WNT4 | 2.13 |
| 92 | Donohue syndrome | Enrichment | INSR | 2.13 |
| 93 | Oculoectodermal syndrome | Enrichment | KRAS | 2.13 |
| 94 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.13 |
| 95 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 2.13 |
| 96 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 2.13 |
| 97 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 2.13 |
| 98 | Noonan syndrome 4 | Enrichment | SOS1 | 2.13 |
| 99 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | Enrichment | WNT4 | 2.13 |
| 100 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 2.13 |
| 101 | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | Enrichment | HMGB1 | 2.13 |
| 102 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.13 |
| 103 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 2.13 |
| 104 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.13 |
| 105 | Split-hand/foot malformation 6 | Enrichment | WNT10B | 2.13 |
| 106 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.13 |
| 107 | Noonan syndrome 9 | Enrichment | SOS2 | 2.13 |
| 108 | Caudal duplication anomaly | Enrichment | AXIN1 | 2.13 |
| 109 | Noonan syndrome 6 | Enrichment | NRAS | 2.13 |
| 110 | Tooth agenesis, selective, 8 | Enrichment | WNT10B | 2.13 |
| 111 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.13 |
| 112 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.13 |
| 113 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.13 |
| 114 | Accelerated tumor formation | Enrichment | MDM2 | 2.13 |
| 115 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.13 |
| 116 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.13 |
| 117 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.13 |
| 118 | Ciliary dyskinesia, primary, 47, and lissencephaly | Enrichment | TP73 | 2.13 |
| 119 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.13 |
| 120 | Brunet-wagner neurodevelopmental syndrome | Enrichment | RBL2 | 2.13 |
| 121 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.13 |
| 122 | Short syndrome | Enrichment | PIK3R1 | 2.13 |
| 123 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.13 |
| 124 | Houge-janssens syndrome 4 | Enrichment | PPP2R5C | 2.13 |
| 125 | Diarrhea 9 | Enrichment | WNT2B | 2.13 |
| 126 | Papilloma of choroid plexus | Enrichment | TP53 | 2.13 |
| 127 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.13 |
| 128 | Oculoskeletodental syndrome | Enrichment | PIK3C2A | 2.13 |
| 129 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 2.13 |
| 130 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.13 |
| 131 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.13 |
| 132 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.13 |
| 133 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.13 |
| 134 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.13 |
| 135 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.13 |
| 136 | Santos syndrome | Enrichment | WNT7A | 2.13 |
| 137 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.13 |
| 138 | Acatalasemia | Enrichment | CAT | 2.13 |
| 139 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.13 |
| 140 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.13 |
| 141 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.13 |
| 142 | Leukoencephalopathy with dystonia and motor neuropathy | Enrichment | SCP2 | 2.13 |
| 143 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.13 |
| 144 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.13 |
| 145 | Glioma susceptibility 2 | Enrichment | PTEN | 2.13 |
| 146 | Ductal carcinoma in situ | Enrichment | TP53 | 2.13 |
| 147 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.13 |
| 148 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.13 |
| 149 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.13 |
| 150 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 2.13 |
| 151 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.13 |
| 152 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.13 |
| 153 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 2.13 |
| 154 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.13 |
| 155 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.13 |
| 156 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.13 |
| 157 | Hypospadias | Enrichment | PIK3CA | 2.13 |
| 158 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.13 |
| 159 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.13 |
| 160 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.13 |
| 161 | Choroid plexus cancer | Enrichment | TP53 | 2.13 |
| 162 | Rare venous malformation | Enrichment | PIK3CA | 2.13 |
| 163 | Familial adenomatous polyposis | Enrichment | APC | 2.13 |
| 164 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.13 |
| 165 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 2.13 |
| 166 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 2.13 |
| 167 | Nocarh syndrome | Enrichment | CDC42 | 2.13 |
| 168 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.13 |
| 169 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.13 |
| 170 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.13 |
| 171 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.13 |
| 172 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.13 |
| 173 | Oculocerebrodental syndrome | Enrichment | PIK3C2A | 2.13 |
| 174 | Gardner syndrome | Enrichment | APC | 2.13 |
| 175 | 5q22 microdeletion syndrome | Enrichment | APC | 2.13 |
| 176 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.13 |
| 177 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.13 |
| 178 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.13 |
| 179 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.13 |
| 180 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.13 |
| 181 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.13 |
| 182 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 2.13 |
| 183 | Macrodactyly of toe | Enrichment | PIK3CA | 2.13 |
| 184 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.13 |
| 185 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.13 |
| 186 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.13 |
| 187 | Diffuse large b-cell lymphoma | Enrichment | PTEN, TP53 | 2.06 |
| 188 | Tooth agenesis | Enrichment | WNT10A, WNT10B | 1.94 |
| 189 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1, MYC | 1.90 |
| 190 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 1.83 |
| 191 | Burkitt lymphoma | Enrichment | MYC | 1.83 |
| 192 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.83 |
| 193 | Myhre syndrome | Enrichment | SMAD4 | 1.83 |
| 194 | Tooth agenesis, selective, 4 | Enrichment | WNT10A | 1.83 |
| 195 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.83 |
| 196 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.83 |
| 197 | Costello syndrome | Enrichment | HRAS | 1.83 |
| 198 | Schopf-schulz-passarge syndrome | Enrichment | WNT10A | 1.83 |
| 199 | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | Enrichment | PCK2 | 1.83 |
| 200 | Ulna and fibula, absence of, with severe limb deficiency | Enrichment | WNT7A | 1.83 |
| 201 | Bladder exstrophy and epispadias complex | Enrichment | WNT3 | 1.83 |
| 202 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.83 |
| 203 | Quebec platelet disorder | Enrichment | PLAU | 1.83 |
| 204 | Cervical cancer | Enrichment | TP53 | 1.83 |
| 205 | Odontoonychodermal dysplasia | Enrichment | WNT10A | 1.83 |
| 206 | Pulmonic stenosis | Enrichment | SOS1 | 1.83 |
| 207 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 1.83 |
| 208 | Tetraamelia syndrome 1 | Enrichment | WNT3 | 1.83 |
| 209 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 1.83 |
| 210 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 1.83 |
| 211 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.83 |
| 212 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 1.83 |
| 213 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.83 |
| 214 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 1.83 |
| 215 | Robinow syndrome, autosomal dominant 3 | Enrichment | DVL3 | 1.83 |
| 216 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.83 |
| 217 | Spermatogenic failure 17 | Enrichment | PIK3C2G | 1.83 |
| 218 | Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly | Enrichment | WNT7A | 1.83 |
| 219 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.83 |
| 220 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.83 |
| 221 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.83 |
| 222 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.83 |
| 223 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 1.83 |
| 224 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 1.83 |
| 225 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.83 |
| 226 | Hyperlipoproteinemia, type iii | Enrichment | LDLR | 1.83 |
| 227 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.83 |
| 228 | Split hand-foot malformation | Enrichment | LEF1 | 1.83 |
| 229 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.83 |
| 230 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.83 |
| 231 | Congenital fibrosarcoma | Enrichment | TP53 | 1.83 |
| 232 | High grade glioma | Enrichment | ATM | 1.83 |
| 233 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.83 |
| 234 | Sarcoma | Enrichment | TP53 | 1.83 |
| 235 | Periampullary adenoma | Enrichment | APC | 1.83 |
| 236 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 1.83 |
| 237 | Cervix carcinoma | Enrichment | TP53 | 1.83 |
| 238 | Hodgkin's lymphoma | Enrichment | TP53 | 1.83 |
| 239 | T-cell prolymphocytic leukemia | Enrichment | ATM | 1.83 |
| 240 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.83 |
| 241 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.83 |
| 242 | Teratoma | Enrichment | CTNNB1 | 1.83 |
| 243 | Primary mediastinal large b-cell lymphoma | Enrichment | BCL6 | 1.83 |
| 244 | Bladder exstrophy-epispadias-cloacal exstrophy complex | Enrichment | WNT3 | 1.83 |
| 245 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.83 |
| 246 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.83 |
| 247 | Wooly hair nevus | Enrichment | HRAS | 1.83 |
| 248 | Hypercholesterolemia, familial, 2 | Enrichment | LDLR | 1.65 |
| 249 | Ataxia-telangiectasia | Enrichment | ATM | 1.65 |
| 250 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.65 |
| 251 | Polycythemia vera | Enrichment | ATM | 1.65 |
| 252 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.65 |
| 253 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | FASLG | 1.65 |
| 254 | Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia | Enrichment | LDLR | 1.65 |
| 255 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | WNT4 | 1.65 |
| 256 | Microphthalmia, syndromic 9 | Enrichment | WNT7B | 1.65 |
| 257 | Tooth agenesis, selective, 2 | Enrichment | WNT10A | 1.65 |
| 258 | Nuchal bleb, familial | Enrichment | SOS1 | 1.65 |
| 259 | Langerhans cell histiocytosis | Enrichment | NRAS | 1.65 |
| 260 | Osteogenic sarcoma | Enrichment | TP53 | 1.65 |
| 261 | Hypercholesterolemia, familial, 4 | Enrichment | LDLR | 1.65 |
| 262 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.65 |
| 263 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.65 |
| 264 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.65 |
| 265 | Anus, imperforate | Enrichment | CTNNB1 | 1.65 |
| 266 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.65 |
| 267 | Koolen-de vries syndrome | Enrichment | ATM | 1.65 |
| 268 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 1.65 |
| 269 | Syndromic x-linked intellectual disability najm type | Enrichment | LDLR | 1.65 |
| 270 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.65 |
| 271 | Anaplastic astrocytoma | Enrichment | TP53 | 1.65 |
| 272 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 1.65 |
| 273 | Squamous cell carcinoma | Enrichment | TP53 | 1.65 |
| 274 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.65 |
| 275 | Bone osteosarcoma | Enrichment | TP53 | 1.65 |
| 276 | Spermatocytoma | Enrichment | HRAS | 1.65 |
| 277 | Tetraamelia syndrome | Enrichment | WNT3 | 1.65 |
| 278 | Respiratory failure | Enrichment | TP73 | 1.65 |
| 279 | Colon adenocarcinoma | Enrichment | APC | 1.65 |
| 280 | Phosphoenolpyruvate carboxykinase deficiency | Enrichment | PCK2 | 1.65 |
| 281 | Well-differentiated liposarcoma | Enrichment | MDM2 | 1.65 |
| 282 | Keratoacanthoma | Enrichment | PIK3CA | 1.65 |
| 283 | Apc-associated polyposis conditions | Enrichment | APC | 1.65 |
| 284 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 1.65 |
| 285 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 1.53 |
| 286 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.53 |
| 287 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DVL2 | 1.53 |
| 288 | Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | WNT10A | 1.53 |
| 289 | Glycogen storage disease ia | Enrichment | G6PC1 | 1.53 |
| 290 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.53 |
| 291 | Autoimmune lymphoproliferative syndrome | Enrichment | FASLG | 1.53 |
| 292 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.53 |
| 293 | Pilomatrixoma | Enrichment | CTNNB1 | 1.53 |
| 294 | Barrett esophagus | Enrichment | ERBB2 | 1.53 |
| 295 | Alazami syndrome | Enrichment | CTNNB1 | 1.53 |
| 296 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 1.53 |
| 297 | Ectodermal dysplasia | Enrichment | WNT10A | 1.53 |
| 298 | Cerebrovascular disease | Enrichment | PIK3CA | 1.53 |
| 299 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.53 |
| 300 | Aortic aneurysm | Enrichment | SMAD3 | 1.53 |
| 301 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.53 |
| 302 | Pilocytic astrocytoma | Enrichment | KRAS | 1.53 |
| 303 | Epidermolytic nevus | Enrichment | HRAS | 1.53 |
| 304 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.53 |
| 305 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.53 |
| 306 | Glioma | Enrichment | PTEN | 1.53 |
| 307 | Gingival fibromatosis | Enrichment | SOS1 | 1.53 |
| 308 | Oculomotor apraxia | Enrichment | ATM | 1.53 |
| 309 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.53 |
| 310 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.44 |
| 311 | Alzheimer disease 2 | Enrichment | PLAU | 1.44 |
| 312 | Hyperlipidemia, familial combined, 3 | Enrichment | LDLR | 1.44 |
| 313 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.44 |
| 314 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.44 |
| 315 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.44 |
| 316 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.44 |
| 317 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.44 |
| 318 | Lymphoma | Enrichment | TP53 | 1.44 |
| 319 | Glioblastoma | Enrichment | ATM | 1.44 |
| 320 | Hemangioma | Enrichment | PTEN | 1.44 |
| 321 | Hypoglycemia | Enrichment | G6PC1 | 1.44 |
| 322 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | Enrichment | WNT10A | 1.44 |
| 323 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.44 |
| 324 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD3, SMAD4 | 1.37 |
| 325 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.36 |
| 326 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.36 |
| 327 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.36 |
| 328 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.36 |
| 329 | Diarrhea | Enrichment | WNT2B | 1.36 |
| 330 | Lipid metabolism disorder | Enrichment | LDLR | 1.36 |
| 331 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.36 |
| 332 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.36 |
| 333 | 46,xy disorder of sex development | Enrichment | INSR | 1.36 |
| 334 | Esophageal cancer | Enrichment | TP53 | 1.29 |
| 335 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.29 |
| 336 | Essential thrombocythemia | Enrichment | TP53 | 1.29 |
| 337 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.29 |
| 338 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.29 |
| 339 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.29 |
| 340 | Moyamoya angiopathy | Enrichment | ABL1 | 1.29 |
| 341 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.24 |
| 342 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.24 |
| 343 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.24 |
| 344 | Homozygous familial hypercholesterolemia | Enrichment | LDLR | 1.24 |
| 345 | Isolated split hand-split foot malformation | Enrichment | WNT10B | 1.24 |
| 346 | Microcephaly | Enrichment | ABL1, CTNNB1, MAPK1 | 1.19 |
| 347 | Coronary heart disease 5 | Enrichment | LDLR | 1.19 |
| 348 | Loeys-dietz syndrome | Enrichment | SMAD3 | 1.19 |
| 349 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.19 |
| 350 | Primary hyperaldosteronism | Enrichment | TP53 | 1.19 |
| 351 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.19 |
| 352 | Lynch syndrome 1 | Enrichment | ATM | 1.14 |
| 353 | Melanoma | Enrichment | PTEN | 1.14 |
| 354 | Familial colorectal cancer | Enrichment | TP53 | 1.14 |
| 355 | Immune deficiency disease | Enrichment | ATM | 1.10 |
| 356 | Meningioma, familial | Enrichment | PTEN | 1.10 |
| 357 | Myelodysplastic syndrome | Enrichment | TP53 | 1.10 |
| 358 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.10 |
| 359 | Glycogen storage disease | Enrichment | G6PC1 | 1.10 |
| 360 | Familial colorectal cancer type x | Enrichment | ATM | 1.10 |
| 361 | Specific learning disability | Enrichment | MAPK1 | 1.10 |
| 362 | Aortic valve disease 1 | Enrichment | SOS1 | 1.03 |
| 363 | Hypercholesterolemia, familial, 1 | Enrichment | LDLR | 1.03 |
| 364 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 1.03 |
| 365 | Breast-ovarian cancer, familial 1 | Enrichment | ATM | 1.03 |
| 366 | Protein-deficiency anemia | Enrichment | NRAS | 1.03 |
| 367 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.03 |
| 368 | Osteoporosis | Enrichment | WNT1 | 1.00 |
| 369 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.00 |
| 370 | Heart disease | Enrichment | ABL1 | 1.00 |
| 371 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 0.97 |
| 372 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 0.97 |
| 373 | Familial hypercholesterolemia | Enrichment | LDLR | 0.97 |
| 374 | Alzheimer disease, familial, 1 | Enrichment | PLAU | 0.92 |
| 375 | Polycystic liver disease | Enrichment | CTNNB1 | 0.92 |
| 376 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 0.92 |
| 377 | Heart, malformation of | Enrichment | MAPK1 | 0.90 |
| 378 | Arteriovenous malformations of the brain | Enrichment | KRAS | 0.88 |
| 379 | Ehlers-danlos syndrome | Enrichment | SMAD3 | 0.88 |
| 380 | Macs syndrome | Enrichment | WNT7B | 0.86 |
| 381 | Maturity-onset diabetes of the young | Enrichment | MLKL | 0.86 |
| 382 | Microphthalmia | Enrichment | WNT7B | 0.82 |
| 383 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.80 |
| 384 | Brittle bone disorder | Enrichment | WNT1 | 0.80 |
| 385 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.75 |
| 386 | Congenital nervous system abnormality | Enrichment | CTNNB1, PTEN | 0.73 |
| 387 | Nervous system disease | Enrichment | CTNNB1, PTEN | 0.73 |
| 388 | Hirschsprung disease 1 | Enrichment | ERBB2 | 0.71 |
| 389 | Cystic fibrosis | Enrichment | TGFB1 | 0.67 |
| 390 | Connective tissue disease | Enrichment | SMAD3 | 0.67 |
| 391 | Diamond-blackfan anemia | Enrichment | TP53 | 0.63 |
| 392 | Thrombocytopenia | Enrichment | SMAD4 | 0.52 |
| 393 | Hypertelorism | Enrichment | PIK3CA | 0.49 |
| 394 | Autism | Enrichment | TCF7L2 | 0.38 |
| 395 | Autism spectrum disorder | Enrichment | PTEN | 0.25 |
| 396 | Complex neurodevelopmental disorder | Enrichment | TCF7L2 | 0.22 |