| 1 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.74 |
| 2 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 4.74 |
| 3 | Spermatocytoma | Enrichment | FGFR3, HRAS | 4.74 |
| 4 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 4.44 |
| 5 | Bladder cancer | Enrichment | FGFR3, HRAS, NF1 | 4.30 |
| 6 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 4.22 |
| 7 | Colorectal cancer | Enrichment | BAX, FGFR2, FGFR3, SRC | 4.20 |
| 8 | Nevus, epidermal | Enrichment | FGFR3, HRAS | 3.90 |
| 9 | Arteriovenous malformation | Enrichment | HRAS, RASA1 | 3.66 |
| 10 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, RASA1 | 3.57 |
| 11 | Rhabdomyosarcoma | Enrichment | HRAS, NF1 | 3.15 |
| 12 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.95 |
| 13 | Rasopathy | Enrichment | HRAS, NF1 | 2.72 |
| 14 | Hypochondroplasia | Enrichment | FGFR3 | 2.60 |
| 15 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.60 |
| 16 | Immune deficiency, familial variable | Enrichment | TNFRSF13B | 2.60 |
| 17 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.60 |
| 18 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.60 |
| 19 | High molecular weight kininogen deficiency | Enrichment | KNG1 | 2.60 |
| 20 | Muenke syndrome | Enrichment | FGFR3 | 2.60 |
| 21 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.60 |
| 22 | Apert syndrome | Enrichment | FGFR2 | 2.60 |
| 23 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.60 |
| 24 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.60 |
| 25 | Elliptocytosis 1 | Enrichment | EPB41 | 2.60 |
| 26 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.60 |
| 27 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.60 |
| 28 | Angioedema, hereditary, 6 | Enrichment | KNG1 | 2.60 |
| 29 | Immunoglobulin a deficiency 2 | Enrichment | TNFRSF13B | 2.60 |
| 30 | Prostate cancer/brain cancer susceptibility | Enrichment | EPHB2 | 2.60 |
| 31 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.60 |
| 32 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.60 |
| 33 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.60 |
| 34 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.60 |
| 35 | Bleeding disorder, platelet-type, 22 | Enrichment | EPHB2 | 2.60 |
| 36 | Thrombocytopenia 6 | Enrichment | SRC | 2.60 |
| 37 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.60 |
| 38 | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | Enrichment | TRAPPC4 | 2.60 |
| 39 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.60 |
| 40 | Plexiform neurofibroma | Enrichment | NF1 | 2.60 |
| 41 | Neurofibroma | Enrichment | NF1 | 2.60 |
| 42 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.60 |
| 43 | Neurofibromatosis | Enrichment | NF1 | 2.60 |
| 44 | Chromosome 17q11.2 deletion syndrome | Enrichment | NF1 | 2.60 |
| 45 | Cask-related intellectual disability | Enrichment | CASK | 2.60 |
| 46 | Optic nerve glioma | Enrichment | NF1 | 2.60 |
| 47 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 2.60 |
| 48 | Gorham's disease | Enrichment | RASA1 | 2.60 |
| 49 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.60 |
| 50 | Common variable immunodeficiency phenotype due to homozygous taci deficiency | Enrichment | TNFRSF13B | 2.60 |
| 51 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.60 |
| 52 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.60 |
| 53 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.60 |
| 54 | Cafe-au-lait spots, multiple | Enrichment | NF1 | 2.30 |
| 55 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.30 |
| 56 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 2.30 |
| 57 | Costello syndrome | Enrichment | HRAS | 2.30 |
| 58 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 2.30 |
| 59 | Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous | Enrichment | LAMA3 | 2.30 |
| 60 | Immunodeficiency, common variable, 2 | Enrichment | TNFRSF13B | 2.30 |
| 61 | Fg syndrome 4 | Enrichment | CASK | 2.30 |
| 62 | Cervical cancer | Enrichment | FGFR3 | 2.30 |
| 63 | Immunodeficiency with hyper-igm, type 2 | Enrichment | TNFRSF13B | 2.30 |
| 64 | Seizures, benign familial infantile, 2 | Enrichment | PRRT2 | 2.30 |
| 65 | Aural atresia, congenital | Enrichment | FGFR2 | 2.30 |
| 66 | Keratosis, seborrheic | Enrichment | FGFR3 | 2.30 |
| 67 | Pfeiffer syndrome | Enrichment | FGFR2 | 2.30 |
| 68 | Jackson-weiss syndrome | Enrichment | FGFR2 | 2.30 |
| 69 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.30 |
| 70 | Epidermolysis bullosa, junctional 2a, intermediate | Enrichment | LAMA3 | 2.30 |
| 71 | Chromosome 17q11.2 duplication syndrome, 1.4-mb | Enrichment | NF1 | 2.30 |
| 72 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.30 |
| 73 | Split hand-foot malformation | Enrichment | FGFR2 | 2.30 |
| 74 | Syndromic x-linked intellectual disability | Enrichment | CASK | 2.30 |
| 75 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.30 |
| 76 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.30 |
| 77 | Bardet-biedl syndrome 9 | Enrichment | NF1 | 2.30 |
| 78 | Cervix carcinoma | Enrichment | FGFR3 | 2.30 |
| 79 | Epidermolysis bullosa, junctional 2b, severe | Enrichment | LAMA3 | 2.30 |
| 80 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | Enrichment | TRAPPC4 | 2.30 |
| 81 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.30 |
| 82 | Prrt2-related disorder | Enrichment | PRRT2 | 2.30 |
| 83 | Pleomorphic rhabdomyosarcoma | Enrichment | NF1 | 2.30 |
| 84 | Wooly hair nevus | Enrichment | HRAS | 2.30 |
| 85 | Gastric cancer | Enrichment | FGFR2, NF1 | 2.29 |
| 86 | Achondroplasia | Enrichment | FGFR3 | 2.12 |
| 87 | Larsen syndrome | Enrichment | FGFR3 | 2.12 |
| 88 | Watson syndrome | Enrichment | NF1 | 2.12 |
| 89 | Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia | Enrichment | CASK | 2.12 |
| 90 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 2.12 |
| 91 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 2.12 |
| 92 | Glut1 deficiency syndrome 2 | Enrichment | PRRT2 | 2.12 |
| 93 | Neurofibromatosis, familial spinal | Enrichment | NF1 | 2.12 |
| 94 | Chromosome 17q11.2 deletion syndrome, 1.4-mb | Enrichment | NF1 | 2.12 |
| 95 | Large congenital melanocytic nevus | Enrichment | HRAS | 2.12 |
| 96 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.12 |
| 97 | Poretti-boltshauser syndrome | Enrichment | LAMA1 | 2.12 |
| 98 | Syndromic x-linked intellectual disability najm type | Enrichment | CASK | 2.12 |
| 99 | Cerebellar disease | Enrichment | CASK | 2.12 |
| 100 | Hamartoma | Enrichment | FGFR3 | 2.12 |
| 101 | Testicular germ cell cancer | Enrichment | FGFR3 | 2.12 |
| 102 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 2.12 |
| 103 | Brain cancer | Enrichment | NF1 | 2.12 |
| 104 | Testicular cancer | Enrichment | FGFR3 | 2.12 |
| 105 | Myeloma, multiple | Enrichment | FGFR3, NF1 | 2.06 |
| 106 | Paroxysmal nonkinesigenic dyskinesia 1 | Enrichment | PRRT2 | 2.00 |
| 107 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 2.00 |
| 108 | Episodic kinesigenic dyskinesia 1 | Enrichment | PRRT2 | 2.00 |
| 109 | Neurofibromatosis-noonan syndrome | Enrichment | NF1 | 2.00 |
| 110 | Immunodeficiency, common variable, 1 | Enrichment | TNFRSF13B | 2.00 |
| 111 | Embryonal rhabdomyosarcoma | Enrichment | NF1 | 2.00 |
| 112 | Pilocytic astrocytoma | Enrichment | NF1 | 2.00 |
| 113 | Hereditary elliptocytosis | Enrichment | EPB41 | 2.00 |
| 114 | Epidermolytic nevus | Enrichment | HRAS | 2.00 |
| 115 | Familial paroxysmal nonkinesigenic dyskinesia | Enrichment | PRRT2 | 2.00 |
| 116 | Familial or sporadic hemiplegic migraine | Enrichment | PRRT2 | 2.00 |
| 117 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 2.00 |
| 118 | Glioma | Enrichment | FGFR2 | 2.00 |
| 119 | Middle aortic syndrome | Enrichment | NF1 | 2.00 |
| 120 | Hereditary angioedema with normal c1inh not related to f12 or plg variant | Enrichment | KNG1 | 2.00 |
| 121 | Capillary malformations, congenital | Enrichment | RASA1 | 1.90 |
| 122 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | CASK | 1.90 |
| 123 | Rhabdomyosarcoma 2 | Enrichment | NF1 | 1.90 |
| 124 | Convulsions, familial infantile, with paroxysmal choreoathetosis | Enrichment | PRRT2 | 1.90 |
| 125 | Self-limited infantile epilepsy | Enrichment | PRRT2 | 1.90 |
| 126 | Klippel-trenaunay-weber syndrome | Enrichment | RASA1 | 1.83 |
| 127 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.83 |
| 128 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | LAMA3 | 1.83 |
| 129 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.83 |
| 130 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.83 |
| 131 | Epidermolysis bullosa, junctional 1b, severe | Enrichment | LAMA3 | 1.83 |
| 132 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.83 |
| 133 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.83 |
| 134 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.83 |
| 135 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.83 |
| 136 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | LAMA3 | 1.83 |
| 137 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2 | 1.83 |
| 138 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.83 |
| 139 | Lung squamous cell carcinoma | Enrichment | FGFR3 | 1.83 |
| 140 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.83 |
| 141 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.76 |
| 142 | Myelofibrosis | Enrichment | SRC | 1.76 |
| 143 | Capillary malformation-arteriovenous malformation 1 | Enrichment | RASA1 | 1.76 |
| 144 | Noonan syndrome 3 | Enrichment | HRAS | 1.76 |
| 145 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.76 |
| 146 | Common variable immunodeficiency | Enrichment | TNFRSF13B | 1.76 |
| 147 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.76 |
| 148 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS | 1.70 |
| 149 | Ewing sarcoma | Enrichment | NF1 | 1.70 |
| 150 | Neurofibromatosis, type i | Enrichment | NF1 | 1.65 |
| 151 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.65 |
| 152 | Leukemia, acute lymphoblastic 3 | Enrichment | NF1 | 1.65 |
| 153 | Junctional epidermolysis bullosa | Enrichment | LAMA3 | 1.65 |
| 154 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.61 |
| 155 | Primary bone dysplasia | Enrichment | FGFR3 | 1.61 |
| 156 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.56 |
| 157 | Lung non-small cell carcinoma | Enrichment | HRAS | 1.56 |
| 158 | Congenital nervous system abnormality | Enrichment | CASK, FGFR3 | 1.54 |
| 159 | Nervous system disease | Enrichment | CASK, FGFR3 | 1.54 |
| 160 | Juvenile myelomonocytic leukemia | Enrichment | NF1 | 1.53 |
| 161 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.53 |
| 162 | Lip and oral cavity carcinoma | Enrichment | HRAS | 1.53 |
| 163 | Neural tube defects | Enrichment | ITGB1 | 1.49 |
| 164 | Osteoporosis | Enrichment | SRC | 1.46 |
| 165 | Pheochromocytoma | Enrichment | NF1 | 1.46 |
| 166 | Generalized epilepsy with febrile seizures plus | Enrichment | PRRT2 | 1.46 |
| 167 | Hydrocephalus | Enrichment | FGFR2 | 1.43 |
| 168 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS | 1.43 |
| 169 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | CASK | 1.40 |
| 170 | Gliosarcoma | Enrichment | FGFR3 | 1.40 |
| 171 | Isolated congenital microcephaly | Enrichment | CASK | 1.40 |
| 172 | Giant cell glioblastoma | Enrichment | FGFR3 | 1.38 |
| 173 | Early infantile developmental and epileptic encephalopathy | Enrichment | CASK | 1.35 |
| 174 | Endometrial cancer | Enrichment | FGFR2 | 1.29 |
| 175 | Hepatoblastoma | Enrichment | FGFR3 | 1.29 |
| 176 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | NF1 | 1.29 |
| 177 | Skin disease | Enrichment | NF1 | 1.27 |
| 178 | Noonan syndrome 1 | Enrichment | HRAS | 1.25 |
| 179 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.20 |
| 180 | Prostate cancer | Enrichment | EPHB2 | 1.15 |
| 181 | Differentiated thyroid carcinoma | Enrichment | HRAS | 1.15 |
| 182 | Non-immune hydrops fetalis | Enrichment | HRAS | 1.13 |
| 183 | Cystic fibrosis | Enrichment | TGFB1 | 1.11 |
| 184 | Connective tissue disease | Enrichment | FGFR3 | 1.11 |
| 185 | Dystonia | Enrichment | CASK | 1.07 |
| 186 | Non-syndromic x-linked intellectual disability | Enrichment | CASK | 1.06 |
| 187 | Nephrotic syndrome | Enrichment | FN1 | 0.99 |
| 188 | Thrombocytopenia | Enrichment | SRC | 0.94 |
| 189 | Hypertelorism | Enrichment | FGFR2 | 0.91 |
| 190 | Hereditary breast ovarian cancer syndrome | Enrichment | NF1 | 0.89 |
| 191 | Autosomal recessive non-syndromic intellectual disability | Enrichment | EZR | 0.87 |
| 192 | Autism spectrum disorder | Enrichment | NF1 | 0.62 |
| 193 | Microcephaly | Enrichment | CASK | 0.57 |
| 194 | Complex neurodevelopmental disorder | Enrichment | TRAPPC4 | 0.57 |
| 195 | Inherited cancer-predisposing syndrome | Enrichment | NF1 | 0.55 |
| 196 | Hereditary retinal dystrophy | Enrichment | LAMA1 | 0.28 |
| 197 | Fundus dystrophy | Enrichment | LAMA1 | 0.28 |