| 1 | Bladder cancer | Enrichment | CDKN1A, CDKN2A, CTNNB1, EGFR, ERBB2, FGFR3, HRAS, KRAS, PIK3CA, PTEN, RB1, TERT, TP53, TSC1 | 16.00 |
| 2 | Gastric cancer | Enrichment | CDK4, CDKN2A, ERBB2, FGFR2, KRAS, PIK3CA, PTEN, SMAD4, STK11, TP53 | 16.00 |
| 3 | Adult hepatocellular carcinoma | Enrichment | CASP8, CTNNB1, PIK3CA, TP53, TSC1, TSC2 | 16.00 |
| 4 | Ovarian cancer | Enrichment | AKT1, CDKN2A, CTNNB1, EGFR, ERBB2, KRAS, PIK3CA, PTEN, RB1, TP53, TSC2 | 11.16 |
| 5 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, EGFR, HRAS, PIK3CA, RB1, STK11, TP53 | 11.14 |
| 6 | Colorectal cancer | Enrichment | AKT1, CCND1, CTNNB1, ERBB2, FGFR2, FGFR3, NFE2L2, NRAS, PIK3CA, PIK3R1, SMAD4, TP53 | 10.99 |
| 7 | Hemimegalencephaly | Enrichment | AKT3, MTOR, PIK3CA, PTEN, RHEB | 10.94 |
| 8 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2, HRAS, KRAS, NRAS, PIK3CA | 10.57 |
| 9 | Lung squamous cell carcinoma | Enrichment | CDKN2A, EGFR, FGFR3, KRAS, PIK3CA | 10.37 |
| 10 | Nevus, epidermal | Enrichment | FGFR3, HRAS, KRAS, NRAS, PIK3CA | 10.08 |
| 11 | Gallbladder cancer | Enrichment | CTNNB1, KRAS, PIK3CA, SMAD4, TP53 | 10.08 |
| 12 | Focal cortical dysplasia, type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 9.10 |
| 13 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 9.10 |
| 14 | Inherited cancer-predisposing syndrome | Enrichment | CDK4, CDKN2A, EGFR, PTEN, RB1, SMAD4, STK11, TP53, TSC1, TSC2 | 8.70 |
| 15 | Lung cancer susceptibility 3 | Enrichment | EGFR, ERBB2, KRAS, RB1, TP53 | 8.12 |
| 16 | Adrenocortical carcinoma | Enrichment | CDKN2A, CTNNB1, TERT, TP53 | 7.94 |
| 17 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA, TP53 | 7.94 |
| 18 | Lung cancer | Enrichment | CASP8, EGFR, ERBB2, KRAS, NFE2L2, PIK3CA | 7.80 |
| 19 | Hepatocellular carcinoma | Enrichment | CASP8, CTNNB1, PIK3CA, TERT, TP53 | 7.02 |
| 20 | Hamartoma | Enrichment | FGFR3, TSC1, TSC2 | 6.83 |
| 21 | Keratoacanthoma | Enrichment | NOTCH1, NOTCH2, PIK3CA | 6.83 |
| 22 | Pancreatic cancer | Enrichment | CDKN2A, KRAS, SMAD4, STK11, TP53 | 6.72 |
| 23 | Meningioma | Enrichment | AKT1, PIK3CA, PTEN, TERT | 6.43 |
| 24 | Myeloma, multiple | Enrichment | CCND1, FAT1, FGFR3, KRAS, PIK3R2, TP53 | 6.29 |
| 25 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 6.22 |
| 26 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 6.22 |
| 27 | Lung sarcomatoid carcinoma | Enrichment | KRAS, TERT, TP53 | 6.22 |
| 28 | Gliosarcoma | Enrichment | EGFR, FGFR1, FGFR3, TP53 | 5.87 |
| 29 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4, CDKN2A, STK11, TERT | 5.76 |
| 30 | Giant cell glioblastoma | Enrichment | EGFR, FGFR1, FGFR3, TP53 | 5.76 |
| 31 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA, PTEN | 5.53 |
| 32 | Breast cancer | Enrichment | AKT1, CASP8, KRAS, PIK3CA, PTEN, TP53 | 5.53 |
| 33 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PIK3CA, PTEN, TP53 | 5.44 |
| 34 | Hepatoblastoma | Enrichment | CTNNB1, FGFR3, TERT, TP53 | 5.37 |
| 35 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS, PTEN | 5.29 |
| 36 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, PTEN, TP53 | 5.29 |
| 37 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS, PTEN | 5.29 |
| 38 | Cowden syndrome | Enrichment | AKT1, PIK3CA, PTEN | 4.91 |
| 39 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS, TERT | 4.78 |
| 40 | Melanoma | Enrichment | CDKN2A, PTEN, STK11 | 4.76 |
| 41 | Cervical cancer | Enrichment | FGFR3, TP53 | 4.54 |
| 42 | Lymphangioleiomyomatosis | Enrichment | TSC1, TSC2 | 4.54 |
| 43 | Keratosis, seborrheic | Enrichment | FGFR3, PIK3CA | 4.54 |
| 44 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 4.54 |
| 45 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 4.54 |
| 46 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1, KRAS | 4.54 |
| 47 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.54 |
| 48 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 4.54 |
| 49 | Cervix carcinoma | Enrichment | FGFR3, TP53 | 4.54 |
| 50 | Nk-cell enteropathy | Enrichment | CUL3, IGF1R, PIK3CB | 4.39 |
| 51 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS, TERT, TP53 | 4.22 |
| 52 | Lynch syndrome | Enrichment | KRAS, PIK3CA, TGFBR2 | 4.19 |
| 53 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS | 4.19 |
| 54 | Rhabdomyosarcoma | Enrichment | HRAS, PTEN, TP53 | 4.10 |
| 55 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.07 |
| 56 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 4.07 |
| 57 | Tuberous sclerosis 1 | Enrichment | TSC1, TSC2 | 4.07 |
| 58 | Osteogenic sarcoma | Enrichment | RB1, TP53 | 4.07 |
| 59 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.07 |
| 60 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.07 |
| 61 | Testicular germ cell cancer | Enrichment | FGFR3, STK11 | 4.07 |
| 62 | Squamous cell carcinoma | Enrichment | RB1, TP53 | 4.07 |
| 63 | Bone osteosarcoma | Enrichment | RB1, TP53 | 4.07 |
| 64 | Spermatocytoma | Enrichment | FGFR3, HRAS | 4.07 |
| 65 | Testicular cancer | Enrichment | FGFR3, STK11 | 4.07 |
| 66 | Small cell cancer of the lung | Enrichment | RB1, TP53 | 3.77 |
| 67 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.77 |
| 68 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 3.77 |
| 69 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.77 |
| 70 | Tuberous sclerosis | Enrichment | TSC1, TSC2 | 3.77 |
| 71 | Glioma | Enrichment | FGFR2, PTEN | 3.77 |
| 72 | Cleft lip and alveolus | Enrichment | IRF6, TP63 | 3.77 |
| 73 | Endometrial cancer | Enrichment | FGFR2, PIK3CA, PTEN | 3.73 |
| 74 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS | 3.61 |
| 75 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 3.55 |
| 76 | Acute megakaryocytic leukemia | Enrichment | PTEN, TP53 | 3.55 |
| 77 | Cleft upper lip | Enrichment | IRF6, TP63 | 3.55 |
| 78 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4, STK11 | 3.55 |
| 79 | Rasopathy | Enrichment | HRAS, KRAS, NRAS | 3.45 |
| 80 | Li-fraumeni syndrome | Enrichment | CDKN2A, TP53 | 3.37 |
| 81 | Testicular germ cell tumor | Enrichment | FGFR3, STK11 | 3.37 |
| 82 | Prostate cancer | Enrichment | PIK3CA, PTEN, TP53 | 3.31 |
| 83 | Esophageal cancer | Enrichment | TGFBR2, TP53 | 3.23 |
| 84 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 3.23 |
| 85 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.23 |
| 86 | Noonan syndrome 3 | Enrichment | HRAS, KRAS | 3.23 |
| 87 | Pilomyxoid astrocytoma | Enrichment | FGFR1, KRAS | 3.23 |
| 88 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 3.23 |
| 89 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.23 |
| 90 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A, TP53 | 3.23 |
| 91 | Connective tissue disease | Enrichment | FGFR3, NOTCH1, TGFBR2 | 3.18 |
| 92 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 3.11 |
| 93 | Glioma susceptibility 1 | Enrichment | ERBB2, TP53 | 3.11 |
| 94 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 3.00 |
| 95 | Leukemia, chronic lymphocytic | Enrichment | CCND1, TP53 | 2.90 |
| 96 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 2.90 |
| 97 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1, SMAD4, TGFBR2 | 2.77 |
| 98 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 2.74 |
| 99 | Cleft lip/palate | Enrichment | IRF6, TP63 | 2.60 |
| 100 | Congenital nervous system abnormality | Enrichment | CTNNB1, FGFR3, PTEN, TSC2 | 2.60 |
| 101 | Nervous system disease | Enrichment | CTNNB1, FGFR3, PTEN, TSC2 | 2.60 |
| 102 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, PTEN, TP53 | 2.49 |
| 103 | Primary ovarian insufficiency | Enrichment | NOTCH2, RICTOR, TP63 | 2.41 |
| 104 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 2.34 |
| 105 | Diffuse large b-cell lymphoma | Enrichment | PTEN, TP53 | 2.34 |
| 106 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.29 |
| 107 | Rapp-hodgkin syndrome | Enrichment | TP63 | 2.27 |
| 108 | Ankyloblepharon-ectodermal defects-cleft lip/palate | Enrichment | TP63 | 2.27 |
| 109 | Hypochondroplasia | Enrichment | FGFR3 | 2.27 |
| 110 | Macrodactyly | Enrichment | PIK3CA | 2.27 |
| 111 | Proteus syndrome | Enrichment | AKT1 | 2.27 |
| 112 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.27 |
| 113 | Paget disease, extramammary | Enrichment | ERBB2 | 2.27 |
| 114 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.27 |
| 115 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.27 |
| 116 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.27 |
| 117 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.27 |
| 118 | Oculoectodermal syndrome | Enrichment | KRAS | 2.27 |
| 119 | Muenke syndrome | Enrichment | FGFR3 | 2.27 |
| 120 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.27 |
| 121 | Split-hand/foot malformation 4 | Enrichment | TP63 | 2.27 |
| 122 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.27 |
| 123 | Ankyloblepharon filiforme adnatum and cleft palate | Enrichment | TP63 | 2.27 |
| 124 | Caspase 8 deficiency | Enrichment | CASP8 | 2.27 |
| 125 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.27 |
| 126 | Orofacial cleft 6 | Enrichment | IRF6 | 2.27 |
| 127 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.27 |
| 128 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.27 |
| 129 | Apert syndrome | Enrichment | FGFR2 | 2.27 |
| 130 | Hajdu-cheney syndrome | Enrichment | NOTCH2 | 2.27 |
| 131 | Alagille syndrome 2 | Enrichment | NOTCH2 | 2.27 |
| 132 | Popliteal pterygium syndrome | Enrichment | IRF6 | 2.27 |
| 133 | Adult syndrome | Enrichment | TP63 | 2.27 |
| 134 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.27 |
| 135 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 2.27 |
| 136 | Pseudohypoaldosteronism, type iie | Enrichment | CUL3 | 2.27 |
| 137 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.27 |
| 138 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.27 |
| 139 | Noonan syndrome 6 | Enrichment | NRAS | 2.27 |
| 140 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.27 |
| 141 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.27 |
| 142 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.27 |
| 143 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.27 |
| 144 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.27 |
| 145 | Immunodeficiency 92 | Enrichment | REL | 2.27 |
| 146 | Short syndrome | Enrichment | PIK3R1 | 2.27 |
| 147 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.27 |
| 148 | Immunodeficiency, developmental delay, and hypohomocysteinemia | Enrichment | NFE2L2 | 2.27 |
| 149 | Papilloma of choroid plexus | Enrichment | TP53 | 2.27 |
| 150 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.27 |
| 151 | Immunodeficiency 132a | Enrichment | TRAF3 | 2.27 |
| 152 | Immunodeficiency 132b | Enrichment | TRAF3 | 2.27 |
| 153 | Autism 19 | Enrichment | EIF4E | 2.27 |
| 154 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.27 |
| 155 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | Enrichment | TP63 | 2.27 |
| 156 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.27 |
| 157 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.27 |
| 158 | Limb-mammary syndrome | Enrichment | TP63 | 2.27 |
| 159 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.27 |
| 160 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.27 |
| 161 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.27 |
| 162 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.27 |
| 163 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.27 |
| 164 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.27 |
| 165 | Premature ovarian failure 21 | Enrichment | TP63 | 2.27 |
| 166 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.27 |
| 167 | Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction | Enrichment | FADD | 2.27 |
| 168 | Cowden syndrome 6 | Enrichment | AKT1 | 2.27 |
| 169 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.27 |
| 170 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.27 |
| 171 | Glioma susceptibility 2 | Enrichment | PTEN | 2.27 |
| 172 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.27 |
| 173 | Ductal carcinoma in situ | Enrichment | TP53 | 2.27 |
| 174 | Hartsfield syndrome | Enrichment | FGFR1 | 2.27 |
| 175 | Orofacial cleft 8 | Enrichment | TP63 | 2.27 |
| 176 | Neurodevelopmental disorder with or without autism or seizures | Enrichment | CUL3 | 2.27 |
| 177 | Irf6-related disorders | Enrichment | IRF6 | 2.27 |
| 178 | Autosomal dominant popliteal pterygium syndrome | Enrichment | IRF6 | 2.27 |
| 179 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.27 |
| 180 | Autosomal recessive dyskeratosis congenita 4 | Enrichment | TERT | 2.27 |
| 181 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.27 |
| 182 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.27 |
| 183 | Trilateral retinoblastoma | Enrichment | RB1 | 2.27 |
| 184 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.27 |
| 185 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.27 |
| 186 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.27 |
| 187 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.27 |
| 188 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.27 |
| 189 | Hypospadias | Enrichment | PIK3CA | 2.27 |
| 190 | Capillary hemangioma | Enrichment | AKT3 | 2.27 |
| 191 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.27 |
| 192 | Tp63-related disorders | Enrichment | TP63 | 2.27 |
| 193 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.27 |
| 194 | Choroid plexus cancer | Enrichment | TP53 | 2.27 |
| 195 | Rare venous malformation | Enrichment | PIK3CA | 2.27 |
| 196 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.27 |
| 197 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.27 |
| 198 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.27 |
| 199 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.27 |
| 200 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.27 |
| 201 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.27 |
| 202 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.27 |
| 203 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.27 |
| 204 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.27 |
| 205 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.27 |
| 206 | Intestinal polyposis syndrome | Enrichment | STK11 | 2.27 |
| 207 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.27 |
| 208 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.27 |
| 209 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.27 |
| 210 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.27 |
| 211 | Macrodactyly of toe | Enrichment | PIK3CA | 2.27 |
| 212 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.27 |
| 213 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.27 |
| 214 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.27 |
| 215 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.27 |
| 216 | Lung oat cell carcinoma | Enrichment | RB1 | 2.27 |
| 217 | Tooth agenesis | Enrichment | FGFR1, IRF6 | 2.21 |
| 218 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 1.97 |
| 219 | Peutz-jeghers syndrome | Enrichment | STK11 | 1.97 |
| 220 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 | Enrichment | TP63 | 1.97 |
| 221 | Myhre syndrome | Enrichment | SMAD4 | 1.97 |
| 222 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.97 |
| 223 | Costello syndrome | Enrichment | HRAS | 1.97 |
| 224 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.97 |
| 225 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 1.97 |
| 226 | Loeys-dietz syndrome 2 | Enrichment | TGFBR2 | 1.97 |
| 227 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 1.97 |
| 228 | Pseudohypoaldosteronism, type i, autosomal dominant | Enrichment | CUL3 | 1.97 |
| 229 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 1.97 |
| 230 | Aural atresia, congenital | Enrichment | FGFR2 | 1.97 |
| 231 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 1.97 |
| 232 | Goiter, multinodular 1, with or without sertoli-leydig cell tumors | Enrichment | KEAP1 | 1.97 |
| 233 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 1.97 |
| 234 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 | Enrichment | TERT | 1.97 |
| 235 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 1.97 |
| 236 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.97 |
| 237 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.97 |
| 238 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.97 |
| 239 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 1.97 |
| 240 | Myasthenic syndrome, congenital, 12 | Enrichment | FAT1 | 1.97 |
| 241 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 1.97 |
| 242 | Cebalid syndrome | Enrichment | MTOR | 1.97 |
| 243 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.97 |
| 244 | Bladder exstrophy | Enrichment | TP63 | 1.97 |
| 245 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.97 |
| 246 | Split hand-foot malformation | Enrichment | FGFR2 | 1.97 |
| 247 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 1.97 |
| 248 | Congenital fibrosarcoma | Enrichment | TP53 | 1.97 |
| 249 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.97 |
| 250 | Sarcoma | Enrichment | TP53 | 1.97 |
| 251 | Melanoma, cutaneous malignant 9 | Enrichment | TERT | 1.97 |
| 252 | Hodgkin's lymphoma | Enrichment | TP53 | 1.97 |
| 253 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.97 |
| 254 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.97 |
| 255 | Idiopathic interstitial pneumonia | Enrichment | TERT | 1.97 |
| 256 | Fissured tongue | Enrichment | TP63 | 1.97 |
| 257 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.97 |
| 258 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.97 |
| 259 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 1.97 |
| 260 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.97 |
| 261 | Van der woude syndrome | Enrichment | IRF6 | 1.97 |
| 262 | Teratoma | Enrichment | CTNNB1 | 1.97 |
| 263 | Familial retinoblastoma | Enrichment | RB1 | 1.97 |
| 264 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.97 |
| 265 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.97 |
| 266 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.97 |
| 267 | Oculootodental syndrome | Enrichment | FADD | 1.97 |
| 268 | Wooly hair nevus | Enrichment | HRAS | 1.97 |
| 269 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 1.92 |
| 270 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.79 |
| 271 | Achondroplasia | Enrichment | FGFR3 | 1.79 |
| 272 | Van der woude syndrome 1 | Enrichment | IRF6 | 1.79 |
| 273 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.79 |
| 274 | Larsen syndrome | Enrichment | FGFR3 | 1.79 |
| 275 | Retinoblastoma | Enrichment | RB1 | 1.79 |
| 276 | Pseudohypoaldosteronism, type iia | Enrichment | CUL3 | 1.79 |
| 277 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.79 |
| 278 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.79 |
| 279 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.79 |
| 280 | Langerhans cell histiocytosis | Enrichment | NRAS | 1.79 |
| 281 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.79 |
| 282 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.79 |
| 283 | Tuberous sclerosis 2 | Enrichment | TSC2 | 1.79 |
| 284 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.79 |
| 285 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.79 |
| 286 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.79 |
| 287 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.79 |
| 288 | Anus, imperforate | Enrichment | CTNNB1 | 1.79 |
| 289 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.79 |
| 290 | Hypotrichosis 8 | Enrichment | RB1 | 1.79 |
| 291 | Desmoid tumor | Enrichment | CTNNB1 | 1.79 |
| 292 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 1.79 |
| 293 | Loeys-dietz syndrome 1 | Enrichment | TGFBR2 | 1.79 |
| 294 | Interstitial lung disease | Enrichment | TERT | 1.79 |
| 295 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.79 |
| 296 | Anaplastic astrocytoma | Enrichment | TP53 | 1.79 |
| 297 | Xanthinuria, type ii | Enrichment | TSC2 | 1.79 |
| 298 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.79 |
| 299 | Macrocytic anemia | Enrichment | TERT | 1.79 |
| 300 | Adenocarcinoma | Enrichment | TP53 | 1.79 |
| 301 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.79 |
| 302 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.79 |
| 303 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.79 |
| 304 | Well-differentiated liposarcoma | Enrichment | CDK4 | 1.79 |
| 305 | Apc-associated polyposis conditions | Enrichment | STK11 | 1.79 |
| 306 | Autism spectrum disorder | Enrichment | CUL3, PTEN, TSC2 | 1.68 |
| 307 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 1.67 |
| 308 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.67 |
| 309 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.67 |
| 310 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.67 |
| 311 | Pilomatrixoma | Enrichment | CTNNB1 | 1.67 |
| 312 | Barrett esophagus | Enrichment | ERBB2 | 1.67 |
| 313 | Lynch syndrome 4 | Enrichment | RB1 | 1.67 |
| 314 | Alazami syndrome | Enrichment | CTNNB1 | 1.67 |
| 315 | Mantle cell lymphoma | Enrichment | CCND1 | 1.67 |
| 316 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 1.67 |
| 317 | Cerebrovascular disease | Enrichment | PIK3CA | 1.67 |
| 318 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.67 |
| 319 | Craniopharyngioma | Enrichment | CTNNB1 | 1.67 |
| 320 | Pilocytic astrocytoma | Enrichment | KRAS | 1.67 |
| 321 | Epidermolytic nevus | Enrichment | HRAS | 1.67 |
| 322 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.67 |
| 323 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.67 |
| 324 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.57 |
| 325 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.57 |
| 326 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.57 |
| 327 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.57 |
| 328 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.57 |
| 329 | Insulin-like growth factor i | Enrichment | IGF1R | 1.57 |
| 330 | Familial adenomatous polyposis 1 | Enrichment | STK11 | 1.57 |
| 331 | Lymphoma | Enrichment | TP53 | 1.57 |
| 332 | Holoprosencephaly | Enrichment | FGFR1 | 1.57 |
| 333 | Hemangioma | Enrichment | PTEN | 1.57 |
| 334 | Herpes simplex virus encephalitis | Enrichment | TRAF3 | 1.57 |
| 335 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.57 |
| 336 | Idiopathic aplastic anemia | Enrichment | TERT | 1.57 |
| 337 | Hypertelorism | Enrichment | FGFR2, PIK3CA | 1.50 |
| 338 | Dyskeratosis congenita, autosomal dominant 1 | Enrichment | TERT | 1.50 |
| 339 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.50 |
| 340 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.50 |
| 341 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.50 |
| 342 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.50 |
| 343 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.50 |
| 344 | Keratoconus | Enrichment | TSC1 | 1.50 |
| 345 | Pulmonary fibrosis | Enrichment | TERT | 1.50 |
| 346 | Hoyeraal-hreidarsson syndrome | Enrichment | TERT | 1.50 |
| 347 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.50 |
| 348 | Kidney clear cell sarcoma | Enrichment | TERT | 1.50 |
| 349 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.43 |
| 350 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.43 |
| 351 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.43 |
| 352 | Dyskeratosis congenita, autosomal dominant 2 | Enrichment | TERT | 1.43 |
| 353 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.43 |
| 354 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.43 |
| 355 | Essential thrombocythemia | Enrichment | TP53 | 1.43 |
| 356 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.43 |
| 357 | Megacolon | Enrichment | AKT3 | 1.43 |
| 358 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.37 |
| 359 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.37 |
| 360 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.37 |
| 361 | Isolated split hand-split foot malformation | Enrichment | TP63 | 1.37 |
| 362 | Nephrotic syndrome, type 1 | Enrichment | FAT1 | 1.32 |
| 363 | Loeys-dietz syndrome | Enrichment | TGFBR2 | 1.32 |
| 364 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.32 |
| 365 | Primary hyperaldosteronism | Enrichment | TP53 | 1.32 |
| 366 | Marfan syndrome | Enrichment | TGFBR2 | 1.28 |
| 367 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.28 |
| 368 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.28 |
| 369 | Aplastic anemia | Enrichment | TERT | 1.28 |
| 370 | Polymicrogyria | Enrichment | AKT3 | 1.28 |
| 371 | Familial colorectal cancer | Enrichment | TP53 | 1.28 |
| 372 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.28 |
| 373 | Primary bone dysplasia | Enrichment | FGFR3 | 1.28 |
| 374 | Meningioma, familial | Enrichment | PTEN | 1.24 |
| 375 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.24 |
| 376 | Myelodysplastic syndrome | Enrichment | TP53 | 1.24 |
| 377 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.24 |
| 378 | Uterine corpus cancer | Enrichment | PTEN | 1.24 |
| 379 | Septooptic dysplasia | Enrichment | FGFR1 | 1.20 |
| 380 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.20 |
| 381 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.17 |
| 382 | Premature menopause | Enrichment | TP63 | 1.17 |
| 383 | Protein-deficiency anemia | Enrichment | NRAS | 1.17 |
| 384 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.14 |
| 385 | Medulloblastoma | Enrichment | CTNNB1 | 1.14 |
| 386 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.14 |
| 387 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.11 |
| 388 | Hydrocephalus | Enrichment | FGFR2 | 1.11 |
| 389 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 1.11 |
| 390 | Kidney disease | Enrichment | TSC1 | 1.11 |
| 391 | Rare genetic intellectual disability | Enrichment | MTOR | 1.11 |
| 392 | Male infertility with spermatogenesis disorder | Enrichment | TP63 | 1.11 |
| 393 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.08 |
| 394 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.08 |
| 395 | Cleft palate, isolated | Enrichment | IRF6 | 1.06 |
| 396 | Interstitial lung disease 2 | Enrichment | TERT | 1.06 |
| 397 | Polycystic liver disease | Enrichment | CTNNB1 | 1.06 |
| 398 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.06 |
| 399 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 1.03 |
| 400 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.03 |
| 401 | Ehlers-danlos syndrome | Enrichment | TGFBR2 | 1.01 |
| 402 | Dyskeratosis congenita | Enrichment | TERT | 1.01 |
| 403 | Multisystem inflammatory syndrome in children | Enrichment | TRAF3 | 0.95 |
| 404 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.93 |
| 405 | Kallmann syndrome | Enrichment | FGFR1 | 0.93 |
| 406 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A | 0.93 |
| 407 | Tetralogy of fallot | Enrichment | NOTCH1 | 0.88 |
| 408 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.88 |
| 409 | Microcephaly | Enrichment | CTNNB1, IGF1R | 0.85 |
| 410 | Hirschsprung disease 1 | Enrichment | ERBB2 | 0.84 |
| 411 | Primary autosomal recessive microcephaly | Enrichment | CDK6 | 0.80 |
| 412 | Diamond-blackfan anemia | Enrichment | TP53 | 0.75 |
| 413 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.69 |
| 414 | Nephrotic syndrome | Enrichment | FAT1 | 0.68 |
| 415 | West syndrome | Enrichment | TSC2 | 0.67 |
| 416 | Thrombocytopenia | Enrichment | SMAD4 | 0.64 |
| 417 | Complex neurodevelopmental disorder | Enrichment | CUL3 | 0.31 |