| 1 | Bladder cancer | Enrichment | CDKN1A, EGFR, ERBB2, ERBB3, FGFR3, KRAS, PTEN, TP53, TSC1 | 16.00 |
| 2 | Ovarian cancer | Enrichment | AKT1, CDKN1B, EGFR, ERBB2, KRAS, MET, NTRK1, PDGFRA, PTEN, TP53, TSC2 | 16.00 |
| 3 | Noonan syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, MRAS, RAF1, SOS2 | 10.10 |
| 4 | Rasopathy | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, MRAS, RAF1, SOS2 | 10.05 |
| 5 | Pilomyxoid astrocytoma | Enrichment | BRAF, FGFR1, KRAS, NTRK2, RAF1 | 9.85 |
| 6 | Focal cortical dysplasia, type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 9.06 |
| 7 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 9.06 |
| 8 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 8.99 |
| 9 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 8.99 |
| 10 | Lung non-small cell carcinoma | Enrichment | BRAF, EGFR, ERBB2, KRAS, MAP2K1 | 8.60 |
| 11 | Hemimegalencephaly | Enrichment | AKT3, MTOR, PTEN, RHEB | 8.37 |
| 12 | Lung cancer susceptibility 3 | Enrichment | BRAF, EGFR, ERBB2, KRAS, RB1 | 7.97 |
| 13 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, RAF1 | 7.80 |
| 14 | Inherited cancer-predisposing syndrome | Enrichment | CDK4, CDKN1B, EGFR, MET, PDGFRA, PTEN, TP53, TSC1, TSC2 | 7.36 |
| 15 | Gastric cancer | Enrichment | CDK4, ERBB2, FGFR2, KRAS, PTEN, TP53 | 6.92 |
| 16 | Hamartoma | Enrichment | FGFR3, TSC1, TSC2 | 6.79 |
| 17 | Colorectal cancer | Enrichment | AKT1, ERBB2, FGFR2, FGFR3, MET, PIK3R1, TP53 | 6.31 |
| 18 | Glioma | Enrichment | FGFR2, NTRK3, PTEN | 6.19 |
| 19 | Lung cancer | Enrichment | BRAF, EGFR, ERBB2, KRAS, MET | 6.01 |
| 20 | Gliosarcoma | Enrichment | EGFR, FGFR1, FGFR3, TP53 | 5.83 |
| 21 | Primary hypereosinophilic syndrome | Enrichment | FGFR1, PDGFRA, PDGFRB | 5.79 |
| 22 | Giant cell glioblastoma | Enrichment | EGFR, FGFR1, FGFR3, TP53 | 5.71 |
| 23 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, TP53 | 5.49 |
| 24 | Lung squamous cell carcinoma | Enrichment | EGFR, FGFR3, KRAS | 5.49 |
| 25 | Arteriovenous malformations of the brain | Enrichment | BRAF, EGFR, IL17RD, KRAS | 5.44 |
| 26 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, PTEN, TP53 | 5.25 |
| 27 | Adult hepatocellular carcinoma | Enrichment | TP53, TSC1, TSC2 | 4.88 |
| 28 | Differentiated thyroid carcinoma | Enrichment | BRAF, KRAS, NTRK1, NTRK3 | 4.67 |
| 29 | Cervical cancer | Enrichment | FGFR3, TP53 | 4.52 |
| 30 | Lymphangioleiomyomatosis | Enrichment | TSC1, TSC2 | 4.52 |
| 31 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 4.52 |
| 32 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 4.52 |
| 33 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1, KRAS | 4.52 |
| 34 | Cervix carcinoma | Enrichment | FGFR3, TP53 | 4.52 |
| 35 | Lip and oral cavity carcinoma | Enrichment | BRAF, EGFR, RB1 | 4.41 |
| 36 | Nk-cell enteropathy | Enrichment | ERBB4, IGF1R, PIK3CB | 4.35 |
| 37 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.04 |
| 38 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 4.04 |
| 39 | Tuberous sclerosis 1 | Enrichment | TSC1, TSC2 | 4.04 |
| 40 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.04 |
| 41 | Dedifferentiated liposarcoma | Enrichment | CDK4, MDM2 | 4.04 |
| 42 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.04 |
| 43 | Well-differentiated liposarcoma | Enrichment | CDK4, MDM2 | 4.04 |
| 44 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 4.01 |
| 45 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PTEN, TP53 | 4.00 |
| 46 | Diffuse large b-cell lymphoma | Enrichment | FOXO1, PTEN, TP53 | 3.83 |
| 47 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3R2 | 3.75 |
| 48 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.75 |
| 49 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 3.75 |
| 50 | Lung sarcomatoid carcinoma | Enrichment | KRAS, TP53 | 3.75 |
| 51 | Tuberous sclerosis | Enrichment | TSC1, TSC2 | 3.75 |
| 52 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 3.71 |
| 53 | Hepatocellular carcinoma | Enrichment | IGF2R, MET, TP53 | 3.63 |
| 54 | Myeloma, multiple | Enrichment | FGFR3, KRAS, PIK3R2, TP53 | 3.59 |
| 55 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 3.53 |
| 56 | Rhabdomyosarcoma 2 | Enrichment | FOXO1, TP53 | 3.53 |
| 57 | Acute megakaryocytic leukemia | Enrichment | PTEN, TP53 | 3.53 |
| 58 | Primary ovarian insufficiency | Enrichment | IGF2R, KDR, NTRK1, RICTOR | 3.51 |
| 59 | Li-fraumeni syndrome | Enrichment | MDM2, TP53 | 3.35 |
| 60 | Cowden syndrome 1 | Enrichment | EGFR, PTEN | 3.35 |
| 61 | Hemangioma, capillary infantile | Enrichment | FLT4, KDR | 3.35 |
| 62 | 46,xy disorder of sex development | Enrichment | FGFR3, INSR | 3.35 |
| 63 | Nevus, epidermal | Enrichment | FGFR3, KRAS | 3.21 |
| 64 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B | 3.21 |
| 65 | Renal cell carcinoma, papillary, 1 | Enrichment | MET, MTOR | 3.21 |
| 66 | Gallbladder cancer | Enrichment | KRAS, TP53 | 3.21 |
| 67 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.21 |
| 68 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 3.17 |
| 69 | Noonan syndrome 3 | Enrichment | KRAS, RAF1 | 3.17 |
| 70 | Breast cancer | Enrichment | AKT1, KRAS, PTEN, TP53 | 3.11 |
| 71 | Glioma susceptibility 1 | Enrichment | ERBB2, TP53 | 3.08 |
| 72 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, RAF1 | 3.05 |
| 73 | Cowden syndrome | Enrichment | AKT1, PTEN | 2.98 |
| 74 | Arteriovenous malformation | Enrichment | MAP2K1, TEK | 2.94 |
| 75 | Ventricular septal defect | Enrichment | BRAF, TEK | 2.94 |
| 76 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 2.88 |
| 77 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, TEK | 2.85 |
| 78 | Meningioma | Enrichment | AKT1, PTEN | 2.72 |
| 79 | Renal cell carcinoma, nonpapillary | Enrichment | MET, MTOR | 2.52 |
| 80 | Hydrocephalus | Enrichment | FGFR2, PDGFRB | 2.52 |
| 81 | Rhabdomyosarcoma | Enrichment | PTEN, TP53 | 2.46 |
| 82 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, PTEN, TP53 | 2.46 |
| 83 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF, CDK4 | 2.38 |
| 84 | Dandy-walker syndrome | Enrichment | BRAF, PDGFRB | 2.38 |
| 85 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.27 |
| 86 | Erythroleukemia, familial | Enrichment | ERBB3 | 2.26 |
| 87 | Hypochondroplasia | Enrichment | FGFR3 | 2.26 |
| 88 | Proteus syndrome | Enrichment | AKT1 | 2.26 |
| 89 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.26 |
| 90 | Paget disease, extramammary | Enrichment | ERBB2 | 2.26 |
| 91 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.26 |
| 92 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.26 |
| 93 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.26 |
| 94 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.26 |
| 95 | Donohue syndrome | Enrichment | INSR | 2.26 |
| 96 | Oculoectodermal syndrome | Enrichment | KRAS | 2.26 |
| 97 | Muenke syndrome | Enrichment | FGFR3 | 2.26 |
| 98 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.26 |
| 99 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.26 |
| 100 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 2.26 |
| 101 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 2.26 |
| 102 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 2.26 |
| 103 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 2.26 |
| 104 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.26 |
| 105 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.26 |
| 106 | Apert syndrome | Enrichment | FGFR2 | 2.26 |
| 107 | Parkinson disease 18, autosomal dominant | Enrichment | EIF4G1 | 2.26 |
| 108 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.26 |
| 109 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.26 |
| 110 | Lethal congenital contracture syndrome 2 | Enrichment | ERBB3 | 2.26 |
| 111 | Gist-plus syndrome | Enrichment | PDGFRA | 2.26 |
| 112 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.26 |
| 113 | Accelerated tumor formation | Enrichment | MDM2 | 2.26 |
| 114 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.26 |
| 115 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.26 |
| 116 | Developmental and epileptic encephalopathy 58 | Enrichment | NTRK2 | 2.26 |
| 117 | Venous malformations, multiple cutaneous and mucosal | Enrichment | TEK | 2.26 |
| 118 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.26 |
| 119 | Short syndrome | Enrichment | PIK3R1 | 2.26 |
| 120 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.26 |
| 121 | Osteofibrous dysplasia | Enrichment | MET | 2.26 |
| 122 | Papilloma of choroid plexus | Enrichment | TP53 | 2.26 |
| 123 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.26 |
| 124 | Autism 19 | Enrichment | EIF4E | 2.26 |
| 125 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 2.26 |
| 126 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.26 |
| 127 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.26 |
| 128 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.26 |
| 129 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.26 |
| 130 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.26 |
| 131 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.26 |
| 132 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.26 |
| 133 | Autism 9 | Enrichment | MET | 2.26 |
| 134 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.26 |
| 135 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.26 |
| 136 | Cowden syndrome 6 | Enrichment | AKT1 | 2.26 |
| 137 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 2.26 |
| 138 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.26 |
| 139 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.26 |
| 140 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.26 |
| 141 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.26 |
| 142 | Obesity, hyperphagia, and developmental delay | Enrichment | NTRK2 | 2.26 |
| 143 | Glioma susceptibility 2 | Enrichment | PTEN | 2.26 |
| 144 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.26 |
| 145 | Ductal carcinoma in situ | Enrichment | TP53 | 2.26 |
| 146 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.26 |
| 147 | Hartsfield syndrome | Enrichment | FGFR1 | 2.26 |
| 148 | Congenital heart defects, multiple types, 7 | Enrichment | FLT4 | 2.26 |
| 149 | Glaucoma 3, primary congenital, e | Enrichment | TEK | 2.26 |
| 150 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.26 |
| 151 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.26 |
| 152 | Tufted angioma of skin | Enrichment | KDR | 2.26 |
| 153 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.26 |
| 154 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.26 |
| 155 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.26 |
| 156 | Bockenheimer syndrome | Enrichment | TEK | 2.26 |
| 157 | Capillary hemangioma | Enrichment | AKT3 | 2.26 |
| 158 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.26 |
| 159 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.26 |
| 160 | Choroid plexus cancer | Enrichment | TP53 | 2.26 |
| 161 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.26 |
| 162 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.26 |
| 163 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.26 |
| 164 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.26 |
| 165 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.26 |
| 166 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.26 |
| 167 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.26 |
| 168 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.26 |
| 169 | Pallister-killian syndrome | Enrichment | ARAF | 2.24 |
| 170 | Immunodeficiency due to defect in mapbp-interacting protein | Enrichment | LAMTOR2 | 2.24 |
| 171 | Noonan syndrome 5 | Enrichment | RAF1 | 2.24 |
| 172 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.24 |
| 173 | Noonan syndrome 7 | Enrichment | BRAF | 2.24 |
| 174 | Leopard syndrome 3 | Enrichment | BRAF | 2.24 |
| 175 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.24 |
| 176 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 2.24 |
| 177 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.24 |
| 178 | Noonan syndrome 9 | Enrichment | SOS2 | 2.24 |
| 179 | Noonan syndrome 11 | Enrichment | MRAS | 2.24 |
| 180 | Immunodeficiency 64 with lymphoproliferation | Enrichment | RASGRP1 | 2.24 |
| 181 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.24 |
| 182 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.24 |
| 183 | Lymphangioma | Enrichment | BRAF | 2.24 |
| 184 | Phace association | Enrichment | BRAF | 2.24 |
| 185 | Melorheostosis | Enrichment | MAP2K1 | 2.24 |
| 186 | Leopard syndrome 2 | Enrichment | RAF1 | 2.24 |
| 187 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.24 |
| 188 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.24 |
| 189 | Hypogonadotropic hypogonadism 18 with or without anosmia | Enrichment | IL17RD | 2.24 |
| 190 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.24 |
| 191 | Thrombocytopenia 6 | Enrichment | SRC | 2.24 |
| 192 | Trigonitis | Enrichment | RAF1 | 2.24 |
| 193 | Trilateral retinoblastoma | Enrichment | RB1 | 2.24 |
| 194 | Immunodeficiency 64 | Enrichment | RASGRP1 | 2.24 |
| 195 | Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency | Enrichment | RASGRP1 | 2.24 |
| 196 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.24 |
| 197 | Diamond-blackfan anemia 22 | Enrichment | RPL17 | 2.24 |
| 198 | Ganglioglioma | Enrichment | BRAF | 2.24 |
| 199 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.24 |
| 200 | Phace syndrome | Enrichment | BRAF | 2.24 |
| 201 | Primary immunodeficiency syndrome due to p14 deficiency | Enrichment | LAMTOR2 | 2.24 |
| 202 | Classic hairy cell leukemia | Enrichment | BRAF | 2.24 |
| 203 | Lung oat cell carcinoma | Enrichment | RB1 | 2.24 |
| 204 | Endometrial cancer | Enrichment | FGFR2, PTEN | 2.23 |
| 205 | Hepatoblastoma | Enrichment | FGFR3, TP53 | 2.23 |
| 206 | Kallmann syndrome | Enrichment | FGFR1, IL17RD | 2.12 |
| 207 | Pancreatic cancer | Enrichment | KRAS, TP53 | 2.08 |
| 208 | Tetralogy of fallot | Enrichment | FLT4, KDR | 2.05 |
| 209 | Lymphatic malformation 1 | Enrichment | FLT4 | 1.96 |
| 210 | Burkitt lymphoma | Enrichment | MYC | 1.96 |
| 211 | Blue rubber bleb nevus | Enrichment | TEK | 1.96 |
| 212 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 1.96 |
| 213 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.96 |
| 214 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 1.96 |
| 215 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | ERBB3 | 1.96 |
| 216 | Intracranial hypertension, idiopathic | Enrichment | FLT4 | 1.96 |
| 217 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 1.96 |
| 218 | Aural atresia, congenital | Enrichment | FGFR2 | 1.96 |
| 219 | Keratosis, seborrheic | Enrichment | FGFR3 | 1.96 |
| 220 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS | 1.96 |
| 221 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 1.96 |
| 222 | Angioma, tufted | Enrichment | KDR | 1.96 |
| 223 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.96 |
| 224 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.96 |
| 225 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 1.96 |
| 226 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 1.96 |
| 227 | Lymphatic malformation 11 | Enrichment | TIE1 | 1.96 |
| 228 | Cebalid syndrome | Enrichment | MTOR | 1.96 |
| 229 | Infantile myofibromatosis | Enrichment | PDGFRB | 1.96 |
| 230 | Childhood hepatocellular carcinoma | Enrichment | MET | 1.96 |
| 231 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.96 |
| 232 | Split hand-foot malformation | Enrichment | FGFR2 | 1.96 |
| 233 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 1.96 |
| 234 | Papillary renal cell carcinoma | Enrichment | MET | 1.96 |
| 235 | Congenital mesoblastic nephroma | Enrichment | NTRK3 | 1.96 |
| 236 | Congenital fibrosarcoma | Enrichment | TP53 | 1.96 |
| 237 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.96 |
| 238 | Sarcoma | Enrichment | TP53 | 1.96 |
| 239 | Immune system disease | Enrichment | PIK3CD | 1.96 |
| 240 | Hodgkin's lymphoma | Enrichment | TP53 | 1.96 |
| 241 | Fibrosarcoma | Enrichment | NTRK3 | 1.96 |
| 242 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.96 |
| 243 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.96 |
| 244 | Hereditary lymphedema i | Enrichment | FLT4 | 1.96 |
| 245 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.96 |
| 246 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 1.96 |
| 247 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 1.96 |
| 248 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.96 |
| 249 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 1.96 |
| 250 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.96 |
| 251 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.96 |
| 252 | Hirschsprung disease 1 | Enrichment | ERBB2, ERBB3 | 1.95 |
| 253 | Prostate cancer | Enrichment | PTEN, TP53 | 1.95 |
| 254 | Pulmonic stenosis | Enrichment | BRAF | 1.94 |
| 255 | Developmental and epileptic encephalopathy 50 | Enrichment | CAD | 1.94 |
| 256 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 1.94 |
| 257 | Nanophthalmos 2 | Enrichment | MFRP | 1.94 |
| 258 | Microphthalmia, isolated 5 | Enrichment | MFRP | 1.94 |
| 259 | Familial retinoblastoma | Enrichment | RB1 | 1.94 |
| 260 | Tafro syndrome | Enrichment | MAP2K2 | 1.94 |
| 261 | Non-immune hydrops fetalis | Enrichment | FLT4, KRAS | 1.90 |
| 262 | Achondroplasia | Enrichment | FGFR3 | 1.78 |
| 263 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.78 |
| 264 | Larsen syndrome | Enrichment | FGFR3 | 1.78 |
| 265 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1 | 1.78 |
| 266 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.78 |
| 267 | Osteogenic sarcoma | Enrichment | TP53 | 1.78 |
| 268 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.78 |
| 269 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.78 |
| 270 | Tuberous sclerosis 2 | Enrichment | TSC2 | 1.78 |
| 271 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.78 |
| 272 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.78 |
| 273 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.78 |
| 274 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.78 |
| 275 | Testicular germ cell cancer | Enrichment | FGFR3 | 1.78 |
| 276 | Anaplastic astrocytoma | Enrichment | TP53 | 1.78 |
| 277 | Xanthinuria, type ii | Enrichment | TSC2 | 1.78 |
| 278 | Squamous cell carcinoma | Enrichment | TP53 | 1.78 |
| 279 | Adenocarcinoma | Enrichment | TP53 | 1.78 |
| 280 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.78 |
| 281 | Bone osteosarcoma | Enrichment | TP53 | 1.78 |
| 282 | Spermatocytoma | Enrichment | FGFR3 | 1.78 |
| 283 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.78 |
| 284 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.78 |
| 285 | Renal cell carcinoma | Enrichment | MET | 1.78 |
| 286 | Testicular cancer | Enrichment | FGFR3 | 1.78 |
| 287 | Retinoblastoma | Enrichment | RB1 | 1.77 |
| 288 | Ataxia-telangiectasia | Enrichment | BRAF | 1.77 |
| 289 | Late-onset retinal degeneration | Enrichment | MFRP | 1.77 |
| 290 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.77 |
| 291 | Hypotrichosis 8 | Enrichment | RB1 | 1.77 |
| 292 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.77 |
| 293 | Macrocytic anemia | Enrichment | RPL17 | 1.77 |
| 294 | Neurodegeneration, childhood-onset, with brain atrophy | Enrichment | UBTF | 1.77 |
| 295 | Leukemia, acute myeloid | Enrichment | KRAS, TP53 | 1.69 |
| 296 | Congenital nervous system abnormality | Enrichment | FGFR3, PTEN, TSC2 | 1.68 |
| 297 | Nervous system disease | Enrichment | FGFR3, PTEN, TSC2 | 1.68 |
| 298 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | KRAS | 1.66 |
| 299 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.66 |
| 300 | Small cell cancer of the lung | Enrichment | TP53 | 1.66 |
| 301 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.66 |
| 302 | Glaucoma 3, primary infantile, b | Enrichment | TEK | 1.66 |
| 303 | Barrett esophagus | Enrichment | ERBB2 | 1.66 |
| 304 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS | 1.66 |
| 305 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.66 |
| 306 | Pilocytic astrocytoma | Enrichment | KRAS | 1.66 |
| 307 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.66 |
| 308 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.66 |
| 309 | Type 2 diabetes mellitus | Enrichment | AKT2, INSR | 1.65 |
| 310 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.64 |
| 311 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.64 |
| 312 | Lynch syndrome 4 | Enrichment | RB1 | 1.64 |
| 313 | Mantle cell lymphoma | Enrichment | CCND1 | 1.64 |
| 314 | Craniopharyngioma | Enrichment | BRAF | 1.64 |
| 315 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.64 |
| 316 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.64 |
| 317 | West syndrome | Enrichment | NTRK2, TSC2 | 1.61 |
| 318 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.56 |
| 319 | Insulin-like growth factor i | Enrichment | IGF1R | 1.56 |
| 320 | Pre-eclampsia | Enrichment | FLT1 | 1.56 |
| 321 | Lymphoma | Enrichment | TP53 | 1.56 |
| 322 | Holoprosencephaly | Enrichment | FGFR1 | 1.56 |
| 323 | Hemangioma | Enrichment | PTEN | 1.56 |
| 324 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.55 |
| 325 | Rare syndromic intellectual disability | Enrichment | UBTF | 1.55 |
| 326 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.49 |
| 327 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.49 |
| 328 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.49 |
| 329 | Keratoconus | Enrichment | TSC1 | 1.49 |
| 330 | Adrenocortical carcinoma | Enrichment | TP53 | 1.49 |
| 331 | Wilms tumor 5 | Enrichment | BRAF | 1.47 |
| 332 | Pancytopenia | Enrichment | RPL17 | 1.47 |
| 333 | Esophageal cancer | Enrichment | TP53 | 1.42 |
| 334 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.42 |
| 335 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.42 |
| 336 | Glaucoma 3, primary congenital, a | Enrichment | TEK | 1.42 |
| 337 | Gastrointestinal stromal tumor | Enrichment | PDGFRA | 1.42 |
| 338 | Leukemia, chronic myeloid | Enrichment | KRAS | 1.42 |
| 339 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NTRK1 | 1.42 |
| 340 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.42 |
| 341 | Essential thrombocythemia | Enrichment | TP53 | 1.42 |
| 342 | Megacolon | Enrichment | AKT3 | 1.42 |
| 343 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.42 |
| 344 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.42 |
| 345 | Myelofibrosis | Enrichment | SRC | 1.40 |
| 346 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.36 |
| 347 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFRB | 1.36 |
| 348 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.36 |
| 349 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.31 |
| 350 | Primary hyperaldosteronism | Enrichment | TP53 | 1.31 |
| 351 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.30 |
| 352 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.27 |
| 353 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.27 |
| 354 | Polymicrogyria | Enrichment | AKT3 | 1.27 |
| 355 | Melanoma | Enrichment | PTEN | 1.27 |
| 356 | Familial colorectal cancer | Enrichment | TP53 | 1.27 |
| 357 | Primary bone dysplasia | Enrichment | FGFR3 | 1.27 |
| 358 | Meningioma, familial | Enrichment | PTEN | 1.23 |
| 359 | Myelodysplastic syndrome | Enrichment | TP53 | 1.23 |
| 360 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.23 |
| 361 | Uterine corpus cancer | Enrichment | PTEN | 1.23 |
| 362 | Nanophthalmos | Enrichment | MFRP | 1.21 |
| 363 | Specific learning disability | Enrichment | MAPK1 | 1.21 |
| 364 | Septooptic dysplasia | Enrichment | FGFR1 | 1.19 |
| 365 | Juvenile myelomonocytic leukemia | Enrichment | KRAS | 1.19 |
| 366 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.19 |
| 367 | Epicanthus | Enrichment | RPL17 | 1.17 |
| 368 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.13 |
| 369 | Cleft lip/palate | Enrichment | PDGFRA | 1.13 |
| 370 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 1.11 |
| 371 | Osteoporosis | Enrichment | SRC | 1.11 |
| 372 | Lynch syndrome | Enrichment | KRAS | 1.10 |
| 373 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 1.10 |
| 374 | Kidney disease | Enrichment | TSC1 | 1.10 |
| 375 | Rare genetic intellectual disability | Enrichment | MTOR | 1.10 |
| 376 | Wilms tumor 1 | Enrichment | BRAF | 1.08 |
| 377 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.07 |
| 378 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.07 |
| 379 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 1.02 |
| 380 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.02 |
| 381 | Heart, malformation of | Enrichment | MAPK1 | 1.01 |
| 382 | Tooth agenesis | Enrichment | FGFR1 | 0.94 |
| 383 | Attention deficit-hyperactivity disorder | Enrichment | RPL17 | 0.92 |
| 384 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.92 |
| 385 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 0.92 |
| 386 | Autism spectrum disorder | Enrichment | PTEN, TSC2 | 0.91 |
| 387 | Parkinson disease, late-onset | Enrichment | EIF4G1 | 0.90 |
| 388 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.89 |
| 389 | Hydrops fetalis, nonimmune | Enrichment | FLT4 | 0.87 |
| 390 | Developmental and epileptic encephalopathy 1 | Enrichment | CAD | 0.87 |
| 391 | Microcephaly | Enrichment | IGF1R, MAPK1 | 0.80 |
| 392 | Connective tissue disease | Enrichment | FGFR3 | 0.79 |
| 393 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.76 |
| 394 | Diamond-blackfan anemia | Enrichment | TP53 | 0.74 |
| 395 | Left ventricular noncompaction | Enrichment | RAF1 | 0.74 |
| 396 | Cerebral palsy | Enrichment | PDGFRB | 0.71 |
| 397 | Thrombocytopenia | Enrichment | SRC | 0.62 |
| 398 | Autosomal dominant non-syndromic intellectual disability | Enrichment | ERBB4 | 0.62 |
| 399 | Hypertelorism | Enrichment | FGFR2 | 0.60 |
| 400 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.58 |
| 401 | Undetermined early-onset epileptic encephalopathy | Enrichment | NTRK2 | 0.57 |
| 402 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4 | 0.56 |
| 403 | Autism | Enrichment | RPL17 | 0.47 |
| 404 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MET | 0.41 |
| 405 | Hereditary retinal dystrophy | Enrichment | MFRP | 0.09 |
| 406 | Fundus dystrophy | Enrichment | MFRP | 0.09 |