| 1 | Rasopathy | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, SOS1, SOS2 | 11.52 |
| 2 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, SOS1, SOS2 | 10.94 |
| 3 | Lung non-small cell carcinoma | Enrichment | BRAF, EGFR, HRAS, KRAS, MAP2K1, NRAS | 10.88 |
| 4 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1 | 10.50 |
| 5 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 9.95 |
| 6 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 9.95 |
| 7 | Nevus, epidermal | Enrichment | FGFR3, HRAS, KRAS, NRAS | 8.51 |
| 8 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1, SOS1 | 8.51 |
| 9 | Pilomyxoid astrocytoma | Enrichment | BRAF, FGFR1, KRAS, RAF1 | 8.51 |
| 10 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, NRAS, RAF1 | 8.21 |
| 11 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 7.53 |
| 12 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 6.93 |
| 13 | Primary hypereosinophilic syndrome | Enrichment | FGFR1, PDGFRA, PDGFRB | 6.53 |
| 14 | Lung squamous cell carcinoma | Enrichment | EGFR, FGFR3, KRAS | 6.23 |
| 15 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS | 5.99 |
| 16 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS | 5.99 |
| 17 | Bladder cancer | Enrichment | EGFR, FGFR3, HRAS, KRAS | 5.71 |
| 18 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS, KRAS, NRAS | 5.71 |
| 19 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, RRAS | 5.19 |
| 20 | Lip and oral cavity carcinoma | Enrichment | BRAF, EGFR, HRAS | 5.19 |
| 21 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 5.01 |
| 22 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 5.01 |
| 23 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 5.01 |
| 24 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1, KRAS | 5.01 |
| 25 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.01 |
| 26 | Lung cancer susceptibility 3 | Enrichment | BRAF, EGFR, KRAS | 4.98 |
| 27 | Gliosarcoma | Enrichment | EGFR, FGFR1, FGFR3 | 4.79 |
| 28 | Giant cell glioblastoma | Enrichment | EGFR, FGFR1, FGFR3 | 4.71 |
| 29 | Arteriovenous malformations of the brain | Enrichment | BRAF, EGFR, KRAS | 4.56 |
| 30 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.53 |
| 31 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 4.53 |
| 32 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.53 |
| 33 | Spermatocytoma | Enrichment | FGFR3, HRAS | 4.53 |
| 34 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 4.23 |
| 35 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.23 |
| 36 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 4.23 |
| 37 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 4.01 |
| 38 | Non-immune hydrops fetalis | Enrichment | FLT4, HRAS, KRAS | 3.90 |
| 39 | Lung cancer | Enrichment | BRAF, EGFR, KRAS | 3.86 |
| 40 | Hemangioma, capillary infantile | Enrichment | FLT4, KDR | 3.84 |
| 41 | Colorectal cancer | Enrichment | BRAF, FGFR2, FGFR3, NRAS | 3.79 |
| 42 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 3.69 |
| 43 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.69 |
| 44 | Gallbladder cancer | Enrichment | BRAF, KRAS | 3.69 |
| 45 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 3.57 |
| 46 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 3.46 |
| 47 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 3.36 |
| 48 | Myeloma, multiple | Enrichment | BRAF, FGFR3, KRAS | 3.14 |
| 49 | Hydrocephalus | Enrichment | FGFR2, PDGFRB | 3.00 |
| 50 | Dandy-walker syndrome | Enrichment | BRAF, PDGFRB | 2.89 |
| 51 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.75 |
| 52 | Tetralogy of fallot | Enrichment | FLT4, KDR | 2.52 |
| 53 | Hydrops fetalis, nonimmune | Enrichment | FLT4, HRAS | 2.52 |
| 54 | Hypochondroplasia | Enrichment | FGFR3 | 2.50 |
| 55 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.50 |
| 56 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.50 |
| 57 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.50 |
| 58 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.50 |
| 59 | Oculoectodermal syndrome | Enrichment | KRAS | 2.50 |
| 60 | Muenke syndrome | Enrichment | FGFR3 | 2.50 |
| 61 | Pallister-killian syndrome | Enrichment | ARAF | 2.50 |
| 62 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.50 |
| 63 | Noonan syndrome 5 | Enrichment | RAF1 | 2.50 |
| 64 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.50 |
| 65 | Noonan syndrome 4 | Enrichment | SOS1 | 2.50 |
| 66 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 2.50 |
| 67 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.50 |
| 68 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.50 |
| 69 | Noonan syndrome 7 | Enrichment | BRAF | 2.50 |
| 70 | Leopard syndrome 3 | Enrichment | BRAF | 2.50 |
| 71 | Apert syndrome | Enrichment | FGFR2 | 2.50 |
| 72 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.50 |
| 73 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.50 |
| 74 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.50 |
| 75 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.50 |
| 76 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.50 |
| 77 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.50 |
| 78 | Noonan syndrome 9 | Enrichment | SOS2 | 2.50 |
| 79 | Noonan syndrome 6 | Enrichment | NRAS | 2.50 |
| 80 | Gist-plus syndrome | Enrichment | PDGFRA | 2.50 |
| 81 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.50 |
| 82 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.50 |
| 83 | Noonan syndrome 11 | Enrichment | MRAS | 2.50 |
| 84 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.50 |
| 85 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 2.50 |
| 86 | Familial isolated trichomegaly | Enrichment | FGF5 | 2.50 |
| 87 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.50 |
| 88 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.50 |
| 89 | Lymphangioma | Enrichment | BRAF | 2.50 |
| 90 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.50 |
| 91 | Phace association | Enrichment | BRAF | 2.50 |
| 92 | Melorheostosis | Enrichment | MAP2K1 | 2.50 |
| 93 | Leopard syndrome 2 | Enrichment | RAF1 | 2.50 |
| 94 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.50 |
| 95 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.50 |
| 96 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.50 |
| 97 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.50 |
| 98 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.50 |
| 99 | Hartsfield syndrome | Enrichment | FGFR1 | 2.50 |
| 100 | Congenital heart defects, multiple types, 7 | Enrichment | FLT4 | 2.50 |
| 101 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.50 |
| 102 | Trigonitis | Enrichment | RAF1 | 2.50 |
| 103 | Tufted angioma of skin | Enrichment | KDR | 2.50 |
| 104 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.50 |
| 105 | Short-rib thoracic dysplasia 22 without polydactyly | Enrichment | FGF4 | 2.50 |
| 106 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.50 |
| 107 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.50 |
| 108 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.50 |
| 109 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.50 |
| 110 | Ganglioglioma | Enrichment | BRAF | 2.50 |
| 111 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.50 |
| 112 | Phace syndrome | Enrichment | BRAF | 2.50 |
| 113 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.50 |
| 114 | Classic hairy cell leukemia | Enrichment | BRAF | 2.50 |
| 115 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.50 |
| 116 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.50 |
| 117 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.50 |
| 118 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.50 |
| 119 | Ovarian cancer | Enrichment | EGFR, KRAS, PDGFRA | 2.40 |
| 120 | Lymphatic malformation 1 | Enrichment | FLT4 | 2.20 |
| 121 | Burkitt lymphoma | Enrichment | MYC | 2.20 |
| 122 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.20 |
| 123 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.20 |
| 124 | Otodental dysplasia | Enrichment | FGF3 | 2.20 |
| 125 | Costello syndrome | Enrichment | HRAS | 2.20 |
| 126 | Trichomegaly | Enrichment | FGF5 | 2.20 |
| 127 | Intracranial hypertension, idiopathic | Enrichment | FLT4 | 2.20 |
| 128 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 2.20 |
| 129 | Cervical cancer | Enrichment | FGFR3 | 2.20 |
| 130 | Aural atresia, congenital | Enrichment | FGFR2 | 2.20 |
| 131 | Keratosis, seborrheic | Enrichment | FGFR3 | 2.20 |
| 132 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | Enrichment | FGF3 | 2.20 |
| 133 | Angioma, tufted | Enrichment | KDR | 2.20 |
| 134 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.20 |
| 135 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.20 |
| 136 | Split hand-foot malformation | Enrichment | FGFR2 | 2.20 |
| 137 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 2.20 |
| 138 | Cervix carcinoma | Enrichment | FGFR3 | 2.20 |
| 139 | Hereditary lymphedema i | Enrichment | FLT4 | 2.20 |
| 140 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 2.20 |
| 141 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.20 |
| 142 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 2.20 |
| 143 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 2.20 |
| 144 | Tafro syndrome | Enrichment | MAP2K2 | 2.20 |
| 145 | Oculootodental syndrome | Enrichment | FGF3 | 2.20 |
| 146 | Wooly hair nevus | Enrichment | HRAS | 2.20 |
| 147 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 2.15 |
| 148 | Gastric cancer | Enrichment | FGFR2, KRAS | 2.09 |
| 149 | Achondroplasia | Enrichment | FGFR3 | 2.02 |
| 150 | Jacobsen syndrome | Enrichment | ETS1 | 2.02 |
| 151 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 2.02 |
| 152 | Larsen syndrome | Enrichment | FGFR3 | 2.02 |
| 153 | Ataxia-telangiectasia | Enrichment | BRAF | 2.02 |
| 154 | Nuchal bleb, familial | Enrichment | SOS1 | 2.02 |
| 155 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 2.02 |
| 156 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.02 |
| 157 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.02 |
| 158 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 2.02 |
| 159 | Hamartoma | Enrichment | FGFR3 | 2.02 |
| 160 | Testicular germ cell cancer | Enrichment | FGFR3 | 2.02 |
| 161 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.02 |
| 162 | Testicular cancer | Enrichment | FGFR3 | 2.02 |
| 163 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.90 |
| 164 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.90 |
| 165 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.90 |
| 166 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.90 |
| 167 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.90 |
| 168 | Craniopharyngioma | Enrichment | BRAF | 1.90 |
| 169 | Pilocytic astrocytoma | Enrichment | KRAS | 1.90 |
| 170 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.90 |
| 171 | Epidermolytic nevus | Enrichment | HRAS | 1.90 |
| 172 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.90 |
| 173 | Glioma | Enrichment | FGFR2 | 1.90 |
| 174 | Gingival fibromatosis | Enrichment | SOS1 | 1.90 |
| 175 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.90 |
| 176 | Pre-eclampsia | Enrichment | FLT1 | 1.80 |
| 177 | Holoprosencephaly | Enrichment | FGFR1 | 1.80 |
| 178 | Cowden syndrome 1 | Enrichment | EGFR | 1.72 |
| 179 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.72 |
| 180 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.72 |
| 181 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.72 |
| 182 | Wilms tumor 5 | Enrichment | BRAF | 1.72 |
| 183 | Breast adenocarcinoma | Enrichment | KRAS | 1.72 |
| 184 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.72 |
| 185 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.66 |
| 186 | Gastrointestinal stromal tumor | Enrichment | PDGFRA | 1.66 |
| 187 | Breast cancer | Enrichment | JUN, KRAS | 1.63 |
| 188 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.60 |
| 189 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 1.58 |
| 190 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.55 |
| 191 | Adult hepatocellular carcinoma | Enrichment | EGF | 1.55 |
| 192 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.55 |
| 193 | Primary hyperaldosteronism | Enrichment | BRAF | 1.55 |
| 194 | Ventricular septal defect | Enrichment | BRAF | 1.55 |
| 195 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.50 |
| 196 | Melanoma | Enrichment | BRAF | 1.50 |
| 197 | Primary bone dysplasia | Enrichment | FGFR3 | 1.50 |
| 198 | Meningioma, familial | Enrichment | PDGFB | 1.46 |
| 199 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.46 |
| 200 | Specific learning disability | Enrichment | MAPK1 | 1.46 |
| 201 | Septooptic dysplasia | Enrichment | FGFR1 | 1.43 |
| 202 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.43 |
| 203 | Meningioma | Enrichment | PDGFB | 1.43 |
| 204 | Aortic valve disease 1 | Enrichment | SOS1 | 1.39 |
| 205 | Protein-deficiency anemia | Enrichment | NRAS | 1.39 |
| 206 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.36 |
| 207 | Cleft lip/palate | Enrichment | PDGFRA | 1.36 |
| 208 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.36 |
| 209 | Wilms tumor 1 | Enrichment | BRAF | 1.33 |
| 210 | Lynch syndrome | Enrichment | KRAS | 1.33 |
| 211 | Rhabdomyosarcoma | Enrichment | HRAS | 1.30 |
| 212 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.30 |
| 213 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.30 |
| 214 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.28 |
| 215 | Heart, malformation of | Enrichment | MAPK1 | 1.26 |
| 216 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 1.26 |
| 217 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.26 |
| 218 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 1.23 |
| 219 | Endometrial cancer | Enrichment | FGFR2 | 1.19 |
| 220 | Hepatoblastoma | Enrichment | FGFR3 | 1.19 |
| 221 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, PDGFRA | 1.18 |
| 222 | Tooth agenesis | Enrichment | FGFR1 | 1.17 |
| 223 | Kallmann syndrome | Enrichment | FGFR1 | 1.15 |
| 224 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 1.15 |
| 225 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.13 |
| 226 | Pancreatic cancer | Enrichment | KRAS | 1.12 |
| 227 | Connective tissue disease | Enrichment | FGFR3 | 1.01 |
| 228 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.00 |
| 229 | Left ventricular noncompaction | Enrichment | RAF1 | 0.98 |
| 230 | Systemic lupus erythematosus | Enrichment | ETS1 | 0.93 |
| 231 | Cerebral palsy | Enrichment | PDGFRB | 0.93 |
| 232 | Hereditary breast carcinoma | Enrichment | KRAS | 0.88 |
| 233 | Hypertelorism | Enrichment | FGFR2 | 0.82 |
| 234 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.81 |
| 235 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.79 |
| 236 | Primary ovarian insufficiency | Enrichment | KDR | 0.77 |
| 237 | Congenital nervous system abnormality | Enrichment | FGFR3 | 0.54 |
| 238 | Nervous system disease | Enrichment | FGFR3 | 0.54 |
| 239 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.53 |
| 240 | Microcephaly | Enrichment | MAPK1 | 0.49 |