| 1 | Primary hypereosinophilic syndrome | Enrichment | FGFR1, PDGFRA, PDGFRB | 6.63 |
| 2 | Ovarian cancer | Enrichment | CTNNB1, EGFR, KIT, MET, NTRK1, PDGFRA | 6.34 |
| 3 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 5.07 |
| 4 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 5.07 |
| 5 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1, MET | 5.07 |
| 6 | Split hand-foot malformation | Enrichment | FGFR2, LEF1 | 5.07 |
| 7 | Gliosarcoma | Enrichment | EGFR, FGFR1, FGFR3 | 4.89 |
| 8 | Giant cell glioblastoma | Enrichment | EGFR, FGFR1, FGFR3 | 4.80 |
| 9 | Colorectal cancer | Enrichment | CCND1, CTNNB1, FGFR2, FGFR3, MET | 4.74 |
| 10 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.60 |
| 11 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 4.60 |
| 12 | Testicular germ cell cancer | Enrichment | FGFR3, KIT | 4.60 |
| 13 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, KIT, MET, NF2, PDGFRA | 4.39 |
| 14 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 4.30 |
| 15 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | FLT3, KIT | 4.30 |
| 16 | Myeloma, multiple | Enrichment | CCND1, FGFR3, FLT3, LATS1 | 4.25 |
| 17 | Bladder cancer | Enrichment | CTNNB1, EGFR, FGFR3 | 4.08 |
| 18 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 4.07 |
| 19 | Acute myeloid leukemia with maturation | Enrichment | FLT3, KIT | 4.07 |
| 20 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | FLT3, KIT | 4.07 |
| 21 | Split-hand/foot malformation 1 | Enrichment | FGFR2, LEF1 | 3.90 |
| 22 | Testicular germ cell tumor | Enrichment | FGFR3, KIT | 3.90 |
| 23 | Hemangioma, capillary infantile | Enrichment | FLT4, KDR | 3.90 |
| 24 | Lung squamous cell carcinoma | Enrichment | EGFR, FGFR3 | 3.90 |
| 25 | 46,xy disorder of sex development | Enrichment | FGFR3, INSR | 3.90 |
| 26 | Gastrointestinal stromal tumor | Enrichment | KIT, PDGFRA | 3.75 |
| 27 | Renal cell carcinoma, papillary, 1 | Enrichment | MET, MTOR | 3.75 |
| 28 | Pilomyxoid astrocytoma | Enrichment | FGFR1, NTRK2 | 3.75 |
| 29 | Lip and oral cavity carcinoma | Enrichment | EGFR, KIT | 3.26 |
| 30 | Renal cell carcinoma, nonpapillary | Enrichment | MET, MTOR | 3.06 |
| 31 | Hydrocephalus | Enrichment | FGFR2, PDGFRB | 3.06 |
| 32 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.81 |
| 33 | Hepatoblastoma | Enrichment | CTNNB1, FGFR3 | 2.76 |
| 34 | Dandy-walker syndrome | Enrichment | PDGFRB, PPP1CB | 2.74 |
| 35 | Hepatocellular carcinoma | Enrichment | CTNNB1, MET | 2.72 |
| 36 | Tetralogy of fallot | Enrichment | FLT4, KDR | 2.58 |
| 37 | Hypochondroplasia | Enrichment | FGFR3 | 2.53 |
| 38 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.53 |
| 39 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.53 |
| 40 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.53 |
| 41 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.53 |
| 42 | Donohue syndrome | Enrichment | INSR | 2.53 |
| 43 | Muenke syndrome | Enrichment | FGFR3 | 2.53 |
| 44 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.53 |
| 45 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 2.53 |
| 46 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 2.53 |
| 47 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 2.53 |
| 48 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 2.53 |
| 49 | Mastocytosis, cutaneous | Enrichment | KIT | 2.53 |
| 50 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.53 |
| 51 | Schwannomatosis, vestibular | Enrichment | NF2 | 2.53 |
| 52 | Apert syndrome | Enrichment | FGFR2 | 2.53 |
| 53 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.53 |
| 54 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.53 |
| 55 | Gist-plus syndrome | Enrichment | PDGFRA | 2.53 |
| 56 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.53 |
| 57 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.53 |
| 58 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.53 |
| 59 | Developmental and epileptic encephalopathy 58 | Enrichment | NTRK2 | 2.53 |
| 60 | Venous malformations, multiple cutaneous and mucosal | Enrichment | TEK | 2.53 |
| 61 | Osteofibrous dysplasia | Enrichment | MET | 2.53 |
| 62 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 2.53 |
| 63 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.53 |
| 64 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.53 |
| 65 | Autism 9 | Enrichment | MET | 2.53 |
| 66 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.53 |
| 67 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.53 |
| 68 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.53 |
| 69 | Acute myeloid leukemia with minimal differentiation | Enrichment | FLT3 | 2.53 |
| 70 | Obesity, hyperphagia, and developmental delay | Enrichment | NTRK2 | 2.53 |
| 71 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.53 |
| 72 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.53 |
| 73 | Hartsfield syndrome | Enrichment | FGFR1 | 2.53 |
| 74 | Congenital heart defects, multiple types, 7 | Enrichment | FLT4 | 2.53 |
| 75 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.53 |
| 76 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.53 |
| 77 | Glaucoma 3, primary congenital, e | Enrichment | TEK | 2.53 |
| 78 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | Enrichment | CSF1R | 2.53 |
| 79 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.53 |
| 80 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.53 |
| 81 | Chronic mast cell leukemia | Enrichment | KIT | 2.53 |
| 82 | Tufted angioma of skin | Enrichment | KDR | 2.53 |
| 83 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.53 |
| 84 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.53 |
| 85 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.53 |
| 86 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.53 |
| 87 | Csf1r-related disorder | Enrichment | CSF1R | 2.53 |
| 88 | Bockenheimer syndrome | Enrichment | TEK | 2.53 |
| 89 | Isolated bone marrow mastocytosis | Enrichment | KIT | 2.53 |
| 90 | Smoldering systemic mastocytosis | Enrichment | KIT | 2.53 |
| 91 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.53 |
| 92 | Acoustic neuroma | Enrichment | NF2 | 2.53 |
| 93 | Nocarh syndrome | Enrichment | CDC42 | 2.53 |
| 94 | Mastocytosis | Enrichment | KIT | 2.53 |
| 95 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.53 |
| 96 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | Enrichment | CSF1R | 2.53 |
| 97 | Cutaneous mastocytoma | Enrichment | KIT | 2.53 |
| 98 | Typical urticaria pigmentosa | Enrichment | KIT | 2.53 |
| 99 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.53 |
| 100 | Nodular urticaria pigmentosa | Enrichment | KIT | 2.53 |
| 101 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.53 |
| 102 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.53 |
| 103 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 2.53 |
| 104 | Acute mast cell leukemia | Enrichment | KIT | 2.53 |
| 105 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.53 |
| 106 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 2.53 |
| 107 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.53 |
| 108 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.53 |
| 109 | Testis seminoma | Enrichment | KIT | 2.53 |
| 110 | White-kernohan syndrome | Enrichment | DDB1 | 2.42 |
| 111 | Noonan syndrome-like disorder with loose anagen hair 2 | Enrichment | PPP1CB | 2.42 |
| 112 | Prkar1b-related neurodegenerative dementia with intermediate filaments | Enrichment | PRKAR1B | 2.42 |
| 113 | Lung cancer | Enrichment | EGFR, MET | 2.40 |
| 114 | Lymphatic malformation 1 | Enrichment | FLT4 | 2.23 |
| 115 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 2.23 |
| 116 | Blue rubber bleb nevus | Enrichment | TEK | 2.23 |
| 117 | Sveinsson chorioretinal atrophy | Enrichment | TEAD1 | 2.23 |
| 118 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.23 |
| 119 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 2.23 |
| 120 | Intracranial hypertension, idiopathic | Enrichment | FLT4 | 2.23 |
| 121 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.23 |
| 122 | Grange syndrome | Enrichment | YY1AP1 | 2.23 |
| 123 | Cervical cancer | Enrichment | FGFR3 | 2.23 |
| 124 | Schwannomatosis 1 | Enrichment | NF2 | 2.23 |
| 125 | Piebald trait | Enrichment | KIT | 2.23 |
| 126 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 2.23 |
| 127 | Aural atresia, congenital | Enrichment | FGFR2 | 2.23 |
| 128 | Keratosis, seborrheic | Enrichment | FGFR3 | 2.23 |
| 129 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 2.23 |
| 130 | Angioma, tufted | Enrichment | KDR | 2.23 |
| 131 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 2.23 |
| 132 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.23 |
| 133 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.23 |
| 134 | Cebalid syndrome | Enrichment | MTOR | 2.23 |
| 135 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.23 |
| 136 | Retinitis pigmentosa 14 | Enrichment | TEAD3 | 2.23 |
| 137 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 2.23 |
| 138 | Papillary renal cell carcinoma | Enrichment | MET | 2.23 |
| 139 | Cervix carcinoma | Enrichment | FGFR3 | 2.23 |
| 140 | Immune system disease | Enrichment | CDC42 | 2.23 |
| 141 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.23 |
| 142 | Hereditary lymphedema i | Enrichment | FLT4 | 2.23 |
| 143 | Acute myeloid leukemia without maturation | Enrichment | FLT3 | 2.23 |
| 144 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 2.23 |
| 145 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.23 |
| 146 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.23 |
| 147 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 2.23 |
| 148 | Teratoma | Enrichment | CTNNB1 | 2.23 |
| 149 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 2.23 |
| 150 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 2.23 |
| 151 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 2.23 |
| 152 | Malignant peritoneal mesothelioma | Enrichment | LATS1 | 2.23 |
| 153 | Leukemia, acute myeloid | Enrichment | FLT3, KIT | 2.21 |
| 154 | Type 2 diabetes mellitus | Enrichment | INSR, TCF7L2 | 2.17 |
| 155 | Genitourinary and/or brain malformation syndrome | Enrichment | PPP1R12A | 2.12 |
| 156 | Marbach-schaaf neurodevelopmental syndrome | Enrichment | PRKAR1B | 2.12 |
| 157 | Noonan syndrome-like disorder with loose anagen hair | Enrichment | PPP1CB | 2.12 |
| 158 | Ciliary dyskinesia, primary, 18 | Enrichment | PRKAR1B | 2.12 |
| 159 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.05 |
| 160 | Achondroplasia | Enrichment | FGFR3 | 2.05 |
| 161 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 2.05 |
| 162 | Larsen syndrome | Enrichment | FGFR3 | 2.05 |
| 163 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1 | 2.05 |
| 164 | Leukoencephalopathy, hereditary diffuse, with spheroids 1 | Enrichment | CSF1R | 2.05 |
| 165 | Barth syndrome | Enrichment | TAFAZZIN | 2.05 |
| 166 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.05 |
| 167 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 2.05 |
| 168 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.05 |
| 169 | Anus, imperforate | Enrichment | CTNNB1 | 2.05 |
| 170 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.05 |
| 171 | Desmoid tumor | Enrichment | CTNNB1 | 2.05 |
| 172 | Loeys-dietz syndrome 1 | Enrichment | SMAD2 | 2.05 |
| 173 | Hamartoma | Enrichment | FGFR3 | 2.05 |
| 174 | Cellular ependymoma | Enrichment | NF2 | 2.05 |
| 175 | Tanycytic ependymoma | Enrichment | NF2 | 2.05 |
| 176 | Papillary ependymoma | Enrichment | NF2 | 2.05 |
| 177 | Spermatocytoma | Enrichment | FGFR3 | 2.05 |
| 178 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 2.05 |
| 179 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.05 |
| 180 | Spindle cell sarcoma | Enrichment | NF2 | 2.05 |
| 181 | Mixed phenotype acute leukemia with t | Enrichment | FLT3 | 2.05 |
| 182 | Clear cell ependymoma | Enrichment | NF2 | 2.05 |
| 183 | Renal cell carcinoma | Enrichment | MET | 2.05 |
| 184 | Testicular cancer | Enrichment | FGFR3 | 2.05 |
| 185 | Glaucoma 3, primary infantile, b | Enrichment | TEK | 1.93 |
| 186 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.93 |
| 187 | Pilomatrixoma | Enrichment | CTNNB1 | 1.93 |
| 188 | Alazami syndrome | Enrichment | CTNNB1 | 1.93 |
| 189 | Chronic myelomonocytic leukemia | Enrichment | FLT3 | 1.93 |
| 190 | Craniopharyngioma | Enrichment | CTNNB1 | 1.93 |
| 191 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.93 |
| 192 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.93 |
| 193 | Full schwannomatosis | Enrichment | NF2 | 1.93 |
| 194 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 1.93 |
| 195 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.93 |
| 196 | Glioma | Enrichment | FGFR2 | 1.93 |
| 197 | Benign ependymoma | Enrichment | NF2 | 1.93 |
| 198 | Primary ovarian insufficiency | Enrichment | KDR, NTRK1 | 1.88 |
| 199 | Cataract 6, multiple types | Enrichment | EPHA2 | 1.83 |
| 200 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.83 |
| 201 | Insulin-like growth factor i | Enrichment | IGF1R | 1.83 |
| 202 | Cholangitis, primary sclerosing | Enrichment | MST1 | 1.83 |
| 203 | Pre-eclampsia | Enrichment | FLT1 | 1.83 |
| 204 | Holoprosencephaly | Enrichment | FGFR1 | 1.83 |
| 205 | Hemimegalencephaly | Enrichment | MTOR | 1.83 |
| 206 | Aniridia | Enrichment | EPHA2 | 1.83 |
| 207 | Mantle cell lymphoma | Enrichment | CCND1 | 1.83 |
| 208 | Cowden syndrome 1 | Enrichment | EGFR | 1.76 |
| 209 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.76 |
| 210 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.76 |
| 211 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.76 |
| 212 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.76 |
| 213 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.73 |
| 214 | Nevus, epidermal | Enrichment | FGFR3 | 1.69 |
| 215 | Glaucoma 3, primary congenital, a | Enrichment | TEK | 1.69 |
| 216 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.69 |
| 217 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NTRK1 | 1.69 |
| 218 | Gallbladder cancer | Enrichment | CTNNB1 | 1.69 |
| 219 | Overgrowth syndrome | Enrichment | MTOR | 1.69 |
| 220 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 1.69 |
| 221 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.63 |
| 222 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFRB | 1.63 |
| 223 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.63 |
| 224 | Early-onset posterior polar cataract | Enrichment | EPHA2 | 1.63 |
| 225 | Loeys-dietz syndrome | Enrichment | SMAD2 | 1.58 |
| 226 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.58 |
| 227 | Arteriovenous malformation | Enrichment | TEK | 1.58 |
| 228 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | FLT3 | 1.58 |
| 229 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.58 |
| 230 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.58 |
| 231 | Ventricular septal defect | Enrichment | TEK | 1.58 |
| 232 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.54 |
| 233 | Myopathy, x-linked, with excessive autophagy | Enrichment | TEK | 1.54 |
| 234 | Primary bone dysplasia | Enrichment | FGFR3 | 1.54 |
| 235 | Neuroblastoma | Enrichment | LIN28B | 1.53 |
| 236 | Frontotemporal dementia 1 | Enrichment | CSF1R | 1.50 |
| 237 | Meningioma, familial | Enrichment | NF2 | 1.50 |
| 238 | Leukemia, acute lymphoblastic | Enrichment | FLT3 | 1.50 |
| 239 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.50 |
| 240 | Lung non-small cell carcinoma | Enrichment | EGFR | 1.50 |
| 241 | Septooptic dysplasia | Enrichment | FGFR1 | 1.46 |
| 242 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.46 |
| 243 | Meningioma | Enrichment | NF2 | 1.46 |
| 244 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.43 |
| 245 | Alzheimer's disease | Enrichment | CSF1R | 1.42 |
| 246 | Nk-cell enteropathy | Enrichment | IGF1R | 1.42 |
| 247 | Congenital nervous system abnormality | Enrichment | CTNNB1, FGFR3 | 1.41 |
| 248 | Nervous system disease | Enrichment | CTNNB1, FGFR3 | 1.41 |
| 249 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.39 |
| 250 | Medulloblastoma | Enrichment | CTNNB1 | 1.39 |
| 251 | Lung cancer susceptibility 3 | Enrichment | EGFR | 1.39 |
| 252 | Cataract | Enrichment | EPHA2 | 1.39 |
| 253 | Cleft lip/palate | Enrichment | PDGFRA | 1.39 |
| 254 | Rare genetic intellectual disability | Enrichment | MTOR | 1.36 |
| 255 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.34 |
| 256 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.34 |
| 257 | Alzheimer disease, familial, 1 | Enrichment | CSF1R | 1.31 |
| 258 | Cataract 44 | Enrichment | EPHA2 | 1.31 |
| 259 | Polycystic liver disease | Enrichment | CTNNB1 | 1.31 |
| 260 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.31 |
| 261 | Microcephaly | Enrichment | CTNNB1, IGF1R | 1.29 |
| 262 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 1.29 |
| 263 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.29 |
| 264 | Early-onset nuclear cataract | Enrichment | EPHA2 | 1.29 |
| 265 | Arteriovenous malformations of the brain | Enrichment | EGFR | 1.26 |
| 266 | Endometrial cancer | Enrichment | FGFR2 | 1.22 |
| 267 | Tooth agenesis | Enrichment | FGFR1 | 1.20 |
| 268 | Kallmann syndrome | Enrichment | FGFR1 | 1.18 |
| 269 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | FLT3 | 1.18 |
| 270 | Hydrops fetalis, nonimmune | Enrichment | FLT4 | 1.13 |
| 271 | Differentiated thyroid carcinoma | Enrichment | NTRK1 | 1.09 |
| 272 | Noonan syndrome 1 | Enrichment | PPP1CB | 1.08 |
| 273 | Non-immune hydrops fetalis | Enrichment | FLT4 | 1.06 |
| 274 | Connective tissue disease | Enrichment | FGFR3 | 1.04 |
| 275 | Rasopathy | Enrichment | PPP1CB | 1.03 |
| 276 | Left ventricular noncompaction | Enrichment | TAFAZZIN | 1.01 |
| 277 | Cerebral palsy | Enrichment | PDGFRB | 0.96 |
| 278 | Gastric cancer | Enrichment | FGFR2 | 0.92 |
| 279 | West syndrome | Enrichment | NTRK2 | 0.91 |
| 280 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD2 | 0.91 |
| 281 | Hypertelorism | Enrichment | FGFR2 | 0.85 |
| 282 | Familial isolated dilated cardiomyopathy | Enrichment | TAFAZZIN | 0.84 |
| 283 | Undetermined early-onset epileptic encephalopathy | Enrichment | NTRK2 | 0.82 |
| 284 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CSF1R | 0.80 |
| 285 | Autism | Enrichment | TCF7L2 | 0.72 |
| 286 | Dilated cardiomyopathy | Enrichment | TAFAZZIN | 0.68 |
| 287 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MET | 0.63 |
| 288 | Leber plus disease | Enrichment | TEAD3 | 0.61 |
| 289 | Primary ciliary dyskinesia | Enrichment | PRKAR1B | 0.60 |
| 290 | Complex neurodevelopmental disorder | Enrichment | TCF7L2 | 0.51 |
| 291 | Hereditary retinal dystrophy | Enrichment | TEAD3 | 0.24 |
| 292 | Fundus dystrophy | Enrichment | TEAD3 | 0.24 |