| 1 | Rasopathy | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS2 | 16.00 |
| 2 | Noonan syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS2 | 10.50 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1 | 9.90 |
| 4 | Lung non-small cell carcinoma | Enrichment | BRAF, EGFR, KRAS, MAP2K1, NRAS, PIK3CA | 9.12 |
| 5 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 7.83 |
| 6 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 7.83 |
| 7 | Lung squamous cell carcinoma | Enrichment | EGFR, FGFR3, KRAS, PIK3CA | 6.66 |
| 8 | Nevus, epidermal | Enrichment | FGFR3, KRAS, NRAS, PIK3CA | 6.30 |
| 9 | Pilomyxoid astrocytoma | Enrichment | BRAF, FGFR1, KRAS, RAF1 | 6.30 |
| 10 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGF10, FGFR2, FGFR3 | 5.87 |
| 11 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 5.87 |
| 12 | Primary hypereosinophilic syndrome | Enrichment | FGFR1, PDGFRA, PDGFRB | 4.88 |
| 13 | Lung cancer susceptibility 3 | Enrichment | BRAF, EGFR, FGF10, KRAS | 4.87 |
| 14 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1, PIK3CA | 4.34 |
| 15 | Noonan syndrome 3 | Enrichment | KRAS, RAF1, SOS1 | 4.34 |
| 16 | Gallbladder cancer | Enrichment | BRAF, KRAS, PIK3CA | 4.34 |
| 17 | Colorectal cancer | Enrichment | APC, BRAF, FGFR2, FGFR3, NRAS, PIK3CA, PIK3R1 | 4.29 |
| 18 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, NRAS, RAF1 | 4.14 |
| 19 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 3.91 |
| 20 | Keratosis, seborrheic | Enrichment | FGFR3, PIK3CA | 3.91 |
| 21 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 3.91 |
| 22 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 3.91 |
| 23 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1, KRAS | 3.91 |
| 24 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 3.91 |
| 25 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 3.91 |
| 26 | Immune system disease | Enrichment | CDC42, PIK3CD | 3.91 |
| 27 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 3.91 |
| 28 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, RRAS | 3.56 |
| 29 | Lip and oral cavity carcinoma | Enrichment | BRAF, EGFR, PIK3CA | 3.56 |
| 30 | Bladder cancer | Enrichment | EGFR, FGFR3, KRAS, PIK3CA | 3.55 |
| 31 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 3.44 |
| 32 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 3.44 |
| 33 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 3.44 |
| 34 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 3.44 |
| 35 | Lung cancer | Enrichment | BRAF, EGFR, KRAS, PIK3CA | 3.38 |
| 36 | Gliosarcoma | Enrichment | EGFR, FGFR1, FGFR3 | 3.17 |
| 37 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | KRAS, NRAS | 3.14 |
| 38 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 3.14 |
| 39 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 3.14 |
| 40 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.14 |
| 41 | Craniopharyngioma | Enrichment | APC, BRAF | 3.14 |
| 42 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 3.14 |
| 43 | Giant cell glioblastoma | Enrichment | EGFR, FGFR1, FGFR3 | 3.09 |
| 44 | Ovarian cancer | Enrichment | APC, EGFR, KRAS, PDGFRA, PIK3CA, RRAS2 | 3.04 |
| 45 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGF17, FGF8, FGFR1 | 3.01 |
| 46 | Arteriovenous malformations of the brain | Enrichment | BRAF, EGFR, KRAS | 2.94 |
| 47 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 2.92 |
| 48 | Holoprosencephaly | Enrichment | FGF8, FGFR1 | 2.92 |
| 49 | Gastric cancer | Enrichment | APC, FGFR2, KRAS, PIK3CA | 2.89 |
| 50 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 2.75 |
| 51 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 2.75 |
| 52 | Holoprosencephaly 1 | Enrichment | FGF8, FGFR1 | 2.75 |
| 53 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA | 2.75 |
| 54 | Kallmann syndrome | Enrichment | FGF17, FGF8, FGFR1 | 2.69 |
| 55 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, NRAS | 2.60 |
| 56 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 2.60 |
| 57 | Follicular thyroid carcinoma | Enrichment | BRAF, NRAS | 2.60 |
| 58 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 2.48 |
| 59 | Myeloma, multiple | Enrichment | BRAF, FGFR3, KRAS, PIK3R2 | 2.46 |
| 60 | Differentiated thyroid carcinoma | Enrichment | BRAF, KRAS, NRAS | 2.40 |
| 61 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA | 2.38 |
| 62 | Adult hepatocellular carcinoma | Enrichment | EGF, PIK3CA | 2.38 |
| 63 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA | 2.28 |
| 64 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 2.28 |
| 65 | Meningioma | Enrichment | PDGFB, PIK3CA | 2.12 |
| 66 | Hypochondroplasia | Enrichment | FGFR3 | 1.95 |
| 67 | Macrodactyly | Enrichment | PIK3CA | 1.95 |
| 68 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 1.95 |
| 69 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 1.95 |
| 70 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 1.95 |
| 71 | Trigonocephaly 1 | Enrichment | FGFR1 | 1.95 |
| 72 | Spinocerebellar ataxia 27a | Enrichment | FGF14 | 1.95 |
| 73 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 1.95 |
| 74 | Oculoectodermal syndrome | Enrichment | KRAS | 1.95 |
| 75 | Muenke syndrome | Enrichment | FGFR3 | 1.95 |
| 76 | Thrombocytopenia 1 | Enrichment | WAS | 1.95 |
| 77 | Intellectual developmental disorder, x-linked 30 | Enrichment | PAK3 | 1.95 |
| 78 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 1.95 |
| 79 | Immunodeficiency 50 | Enrichment | MSN | 1.95 |
| 80 | Noonan syndrome 5 | Enrichment | RAF1 | 1.95 |
| 81 | Hypomagnesemia 4, renal | Enrichment | EGF | 1.95 |
| 82 | Noonan syndrome 4 | Enrichment | SOS1 | 1.95 |
| 83 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 1.95 |
| 84 | Deafness, autosomal recessive 24 | Enrichment | RDX | 1.95 |
| 85 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 1.95 |
| 86 | Cardiomyopathy, familial hypertrophic, 8 | Enrichment | MYL3 | 1.95 |
| 87 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 1.95 |
| 88 | Melorheostosis, isolated | Enrichment | MAP2K1 | 1.95 |
| 89 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 1.95 |
| 90 | Prothrombin deficiency, congenital | Enrichment | F2 | 1.95 |
| 91 | Noonan syndrome 7 | Enrichment | BRAF | 1.95 |
| 92 | Leopard syndrome 3 | Enrichment | BRAF | 1.95 |
| 93 | Apert syndrome | Enrichment | FGFR2 | 1.95 |
| 94 | Amyloidosis, finnish type | Enrichment | GSN | 1.95 |
| 95 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 1.95 |
| 96 | Deafness, autosomal dominant 1, with or without thrombocytopenia | Enrichment | DIAPH1 | 1.95 |
| 97 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 1.95 |
| 98 | Cowden syndrome 5 | Enrichment | PIK3CA | 1.95 |
| 99 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 1.95 |
| 100 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 1.95 |
| 101 | Lichtenstein-knorr syndrome | Enrichment | SLC9A1 | 1.95 |
| 102 | Melanosis, neurocutaneous | Enrichment | NRAS | 1.95 |
| 103 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 1.95 |
| 104 | Amyotrophic lateral sclerosis 18 | Enrichment | PFN1 | 1.95 |
| 105 | Noonan syndrome 9 | Enrichment | SOS2 | 1.95 |
| 106 | Noonan syndrome 6 | Enrichment | NRAS | 1.95 |
| 107 | Hypogonadotropic hypogonadism 20 with or without anosmia | Enrichment | FGF17 | 1.95 |
| 108 | Gist-plus syndrome | Enrichment | PDGFRA | 1.95 |
| 109 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 1.95 |
| 110 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 1.95 |
| 111 | Aplasia of lacrimal and salivary glands | Enrichment | FGF10 | 1.95 |
| 112 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 1.95 |
| 113 | Immunodeficiency 62 | Enrichment | ARHGEF1 | 1.95 |
| 114 | Noonan syndrome 11 | Enrichment | MRAS | 1.95 |
| 115 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 1.95 |
| 116 | Neurodevelopmental disorder with absent language and variable seizures | Enrichment | WASF1 | 1.95 |
| 117 | Noonan syndrome 13 | Enrichment | MAPK1 | 1.95 |
| 118 | Intellectual developmental disorder, x-linked 110 | Enrichment | FGF13 | 1.95 |
| 119 | Spinocerebellar ataxia 27b, late-onset | Enrichment | FGF14 | 1.95 |
| 120 | Knobloch syndrome 2 | Enrichment | PAK2 | 1.95 |
| 121 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 1.95 |
| 122 | Cortical dysplasia, complex, with other brain malformations 10 | Enrichment | APC2 | 1.95 |
| 123 | Short syndrome | Enrichment | PIK3R1 | 1.95 |
| 124 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 1.95 |
| 125 | Oocyte/zygote/embryo maturation arrest 20 | Enrichment | MOS | 1.95 |
| 126 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 1.95 |
| 127 | Oculoskeletodental syndrome | Enrichment | PIK3C2A | 1.95 |
| 128 | Intellectual developmental disorder, x-linked 46 | Enrichment | ARHGEF6 | 1.95 |
| 129 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 1.95 |
| 130 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 1.95 |
| 131 | Developmental and epileptic encephalopathy 90 | Enrichment | FGF13 | 1.95 |
| 132 | Metacarpal 4-5 fusion | Enrichment | FGF16 | 1.95 |
| 133 | Intellectual developmental disorder, autosomal recessive 74 | Enrichment | APC2 | 1.95 |
| 134 | Lacrimoauriculodentodigital syndrome 3 | Enrichment | FGF10 | 1.95 |
| 135 | Familial isolated trichomegaly | Enrichment | FGF5 | 1.95 |
| 136 | Nemaline myopathy 7 | Enrichment | CFL2 | 1.95 |
| 137 | Auditory neuropathy, autosomal dominant 1 | Enrichment | DIAPH3 | 1.95 |
| 138 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 1.95 |
| 139 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 1.95 |
| 140 | Lymphangioma | Enrichment | BRAF | 1.95 |
| 141 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 1.95 |
| 142 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 1.95 |
| 143 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 1.95 |
| 144 | Phace association | Enrichment | BRAF | 1.95 |
| 145 | Becker nevus syndrome | Enrichment | ACTB | 1.95 |
| 146 | Melorheostosis | Enrichment | MAP2K1 | 1.95 |
| 147 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 1.95 |
| 148 | Leopard syndrome 2 | Enrichment | RAF1 | 1.95 |
| 149 | Multiple synostoses syndrome 3 | Enrichment | FGF9 | 1.95 |
| 150 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 1.95 |
| 151 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 1.95 |
| 152 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 1.95 |
| 153 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 1.95 |
| 154 | Bleeding disorder, platelet-type, 15 | Enrichment | ACTN1 | 1.95 |
| 155 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 1.95 |
| 156 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 1.95 |
| 157 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 1.95 |
| 158 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 1.95 |
| 159 | Hypogonadotropic hypogonadism 6 with or without anosmia | Enrichment | FGF8 | 1.95 |
| 160 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 1.95 |
| 161 | Pregnancy loss, recurrent 2 | Enrichment | F2 | 1.95 |
| 162 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 1.95 |
| 163 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | Enrichment | FGF23 | 1.95 |
| 164 | Hartsfield syndrome | Enrichment | FGFR1 | 1.95 |
| 165 | Renal hypodysplasia/aplasia 2 | Enrichment | FGF20 | 1.95 |
| 166 | Was-related disorders | Enrichment | WAS | 1.95 |
| 167 | Seizures, cortical blindness, and microcephaly syndrome | Enrichment | DIAPH1 | 1.95 |
| 168 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 1.95 |
| 169 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 1.95 |
| 170 | Diaph1-related sensorineural hearing loss-thrombocytopenia syndrome | Enrichment | DIAPH1 | 1.95 |
| 171 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 1.95 |
| 172 | Developmental and epileptic encephalopathy 47 | Enrichment | FGF12 | 1.95 |
| 173 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 1.95 |
| 174 | Congenital myopathy 14 | Enrichment | MYL1 | 1.95 |
| 175 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 1.95 |
| 176 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 1.95 |
| 177 | Trigonitis | Enrichment | RAF1 | 1.95 |
| 178 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 1.95 |
| 179 | Sotos syndrome 3 | Enrichment | APC2 | 1.95 |
| 180 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 1.95 |
| 181 | Baraitser-winter syndrome | Enrichment | ACTB | 1.95 |
| 182 | Short-rib thoracic dysplasia 22 without polydactyly | Enrichment | FGF4 | 1.95 |
| 183 | Hypospadias | Enrichment | PIK3CA | 1.95 |
| 184 | Prothrombin deficiency | Enrichment | F2 | 1.95 |
| 185 | Congenital pulmonary airway malformation | Enrichment | KRAS | 1.95 |
| 186 | Rare venous malformation | Enrichment | PIK3CA | 1.95 |
| 187 | Familial adenomatous polyposis | Enrichment | APC | 1.95 |
| 188 | Spinocerebellar ataxia type 27b | Enrichment | FGF14 | 1.95 |
| 189 | Diaphragmatic eventration | Enrichment | PIK3CA | 1.95 |
| 190 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 1.95 |
| 191 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 1.95 |
| 192 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 1.95 |
| 193 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 1.95 |
| 194 | Nocarh syndrome | Enrichment | CDC42 | 1.95 |
| 195 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 1.95 |
| 196 | Syringocystadenoma papilliferum | Enrichment | BRAF | 1.95 |
| 197 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 1.95 |
| 198 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 1.95 |
| 199 | Rare combined vascular malformation | Enrichment | PIK3CA | 1.95 |
| 200 | Ganglioglioma | Enrichment | BRAF | 1.95 |
| 201 | Cavernous lymphangioma | Enrichment | PIK3CA | 1.95 |
| 202 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 1.95 |
| 203 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 1.95 |
| 204 | Phace syndrome | Enrichment | BRAF | 1.95 |
| 205 | Oculocerebrodental syndrome | Enrichment | PIK3C2A | 1.95 |
| 206 | Gardner syndrome | Enrichment | APC | 1.95 |
| 207 | 5q22 microdeletion syndrome | Enrichment | APC | 1.95 |
| 208 | Attenuated familial adenomatous polyposis | Enrichment | APC | 1.95 |
| 209 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 1.95 |
| 210 | Classic hairy cell leukemia | Enrichment | BRAF | 1.95 |
| 211 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 1.95 |
| 212 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 1.95 |
| 213 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 1.95 |
| 214 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 1.95 |
| 215 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 1.95 |
| 216 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 1.95 |
| 217 | Interstitial lung disease specific to childhood | Enrichment | FGF10 | 1.95 |
| 218 | Macrodactyly of toe | Enrichment | PIK3CA | 1.95 |
| 219 | Neurocutaneous melanocytosis | Enrichment | NRAS | 1.95 |
| 220 | Temporomandibular joint anomaly | Enrichment | DOCK1 | 1.95 |
| 221 | Hydrocephalus | Enrichment | FGFR2, PDGFRB | 1.93 |
| 222 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 1.93 |
| 223 | Microcephaly | Enrichment | ACTB, ACTG1, DIAPH1, MAPK1, PAK3 | 1.92 |
| 224 | Hereditary breast carcinoma | Enrichment | APC, KRAS, PIK3CA | 1.89 |
| 225 | Microform holoprosencephaly | Enrichment | FGF8, FGFR1 | 1.87 |
| 226 | Lobar holoprosencephaly | Enrichment | FGF8, FGFR1 | 1.87 |
| 227 | Dandy-walker syndrome | Enrichment | BRAF, PDGFRB | 1.82 |
| 228 | Semilobar holoprosencephaly | Enrichment | FGF8, FGFR1 | 1.78 |
| 229 | Hypertelorism | Enrichment | FGFR2, MYH10, PIK3CA | 1.70 |
| 230 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 1.69 |
| 231 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 1.65 |
| 232 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.65 |
| 233 | Otodental dysplasia | Enrichment | FGF3 | 1.65 |
| 234 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 1.65 |
| 235 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 1.65 |
| 236 | Trichomegaly | Enrichment | FGF5 | 1.65 |
| 237 | Neutropenia, severe congenital, x-linked | Enrichment | WAS | 1.65 |
| 238 | Pulmonary hypoplasia, primary | Enrichment | FGF10 | 1.65 |
| 239 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 1.65 |
| 240 | Cervical cancer | Enrichment | FGFR3 | 1.65 |
| 241 | Wiskott-aldrich syndrome | Enrichment | WAS | 1.65 |
| 242 | Lethal congenital contracture syndrome 3 | Enrichment | PIP5K1C | 1.65 |
| 243 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 1.65 |
| 244 | Aural atresia, congenital | Enrichment | FGFR2 | 1.65 |
| 245 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 1.65 |
| 246 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | Enrichment | FGF3 | 1.65 |
| 247 | Neutrophilia, hereditary | Enrichment | PIP4K2B | 1.65 |
| 248 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 1.65 |
| 249 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 1.65 |
| 250 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.65 |
| 251 | Spermatogenic failure 17 | Enrichment | PIK3C2G | 1.65 |
| 252 | Neutropenia, severe congenital, 7, autosomal recessive | Enrichment | PIP4K2B | 1.65 |
| 253 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 1.65 |
| 254 | Genitourinary and/or brain malformation syndrome | Enrichment | PPP1R12A | 1.65 |
| 255 | Immunodeficiency 72 with autoinflammation and lymphoproliferation | Enrichment | NCKAP1 | 1.65 |
| 256 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.65 |
| 257 | Noonan syndrome 12 | Enrichment | RRAS2 | 1.65 |
| 258 | Infantile myofibromatosis | Enrichment | PDGFRB | 1.65 |
| 259 | Split hand-foot malformation | Enrichment | FGFR2 | 1.65 |
| 260 | Severe congenital neutropenia 7 | Enrichment | PIP4K2B | 1.65 |
| 261 | Intellectual developmental disorder, autosomal dominant 60, with seizures | Enrichment | PIP5K1A | 1.65 |
| 262 | Immunodeficiency 113 with autoimmunity and autoinflammation | Enrichment | ARPC5 | 1.65 |
| 263 | Periampullary adenoma | Enrichment | APC | 1.65 |
| 264 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 1.65 |
| 265 | Cervix carcinoma | Enrichment | FGFR3 | 1.65 |
| 266 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | Enrichment | PIP4K2A | 1.65 |
| 267 | Aarskog syndrome | Enrichment | FGD1 | 1.65 |
| 268 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.65 |
| 269 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 1.65 |
| 270 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 1.65 |
| 271 | Immunodeficiency 133 | Enrichment | ARPC5 | 1.65 |
| 272 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 1.65 |
| 273 | Immunodeficiency 72 | Enrichment | NCKAP1 | 1.65 |
| 274 | Tafro syndrome | Enrichment | MAP2K2 | 1.65 |
| 275 | Oculootodental syndrome | Enrichment | FGF3 | 1.65 |
| 276 | Endometrial cancer | Enrichment | FGFR2, PIK3CA | 1.65 |
| 277 | Hepatoblastoma | Enrichment | APC, FGFR3 | 1.65 |
| 278 | Undetermined early-onset epileptic encephalopathy | Enrichment | CYFIP2, FGF12, LIMK1 | 1.61 |
| 279 | Hepatocellular carcinoma | Enrichment | APC, PIK3CA | 1.61 |
| 280 | Desmoid disease, hereditary | Enrichment | APC | 1.48 |
| 281 | Prune belly syndrome | Enrichment | CHRM3 | 1.48 |
| 282 | Achondroplasia | Enrichment | FGFR3 | 1.48 |
| 283 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.48 |
| 284 | Larsen syndrome | Enrichment | FGFR3 | 1.48 |
| 285 | Ataxia-telangiectasia | Enrichment | BRAF | 1.48 |
| 286 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | Enrichment | FGF23 | 1.48 |
| 287 | Hypophosphatemic rickets, autosomal dominant | Enrichment | FGF23 | 1.48 |
| 288 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.48 |
| 289 | Aarskog-scott syndrome | Enrichment | FGD1 | 1.48 |
| 290 | Intellectual developmental disorder, x-linked, syndromic, claes-jensen type | Enrichment | FGD1 | 1.48 |
| 291 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.48 |
| 292 | Nuchal bleb, familial | Enrichment | SOS1 | 1.48 |
| 293 | Aortic aneurysm, familial thoracic 7 | Enrichment | MYLK | 1.48 |
| 294 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.48 |
| 295 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.48 |
| 296 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.48 |
| 297 | Developmental and epileptic encephalopathy 65 | Enrichment | CYFIP2 | 1.48 |
| 298 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.48 |
| 299 | Large congenital melanocytic nevus | Enrichment | NRAS | 1.48 |
| 300 | Desmoid tumor | Enrichment | APC | 1.48 |
| 301 | Hamartoma | Enrichment | FGFR3 | 1.48 |
| 302 | Testicular germ cell cancer | Enrichment | FGFR3 | 1.48 |
| 303 | Spermatocytoma | Enrichment | FGFR3 | 1.48 |
| 304 | Colon adenocarcinoma | Enrichment | APC | 1.48 |
| 305 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.48 |
| 306 | Syndromic x-linked intellectual disability claes-jensen type | Enrichment | FGD1 | 1.48 |
| 307 | Testicular cancer | Enrichment | FGFR3 | 1.48 |
| 308 | Keratoacanthoma | Enrichment | PIK3CA | 1.48 |
| 309 | Cerebral sinovenous thrombosis | Enrichment | F2 | 1.48 |
| 310 | Apc-associated polyposis conditions | Enrichment | APC | 1.48 |
| 311 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.36 |
| 312 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | MYLK | 1.36 |
| 313 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.36 |
| 314 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.36 |
| 315 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.36 |
| 316 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.36 |
| 317 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.36 |
| 318 | Multiple synostoses syndrome | Enrichment | FGF9 | 1.36 |
| 319 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.36 |
| 320 | Cerebrovascular disease | Enrichment | PIK3CA | 1.36 |
| 321 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.36 |
| 322 | Pilocytic astrocytoma | Enrichment | KRAS | 1.36 |
| 323 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.36 |
| 324 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.36 |
| 325 | Knobloch syndrome | Enrichment | PAK2 | 1.36 |
| 326 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.36 |
| 327 | Glioma | Enrichment | FGFR2 | 1.36 |
| 328 | Gingival fibromatosis | Enrichment | SOS1 | 1.36 |
| 329 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.36 |
| 330 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.36 |
| 331 | Complex neurodevelopmental disorder | Enrichment | MYH10, PAK3, RAC3, WASF1 | 1.30 |
| 332 | Breast cancer | Enrichment | APC, KRAS, PIK3CA | 1.29 |
| 333 | Familial hypertrophic cardiomyopathy | Enrichment | MYL3, RAF1 | 1.28 |
| 334 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.26 |
| 335 | Sotos syndrome | Enrichment | APC2 | 1.26 |
| 336 | Visceral myopathy 1 | Enrichment | MYLK | 1.26 |
| 337 | Martsolf syndrome 1 | Enrichment | ARHGAP35 | 1.26 |
| 338 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.26 |
| 339 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | PAK6 | 1.26 |
| 340 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.26 |
| 341 | Congenital ptosis | Enrichment | MYH10 | 1.26 |
| 342 | Hemimegalencephaly | Enrichment | PIK3CA | 1.26 |
| 343 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.26 |
| 344 | Rare genetic deafness | Enrichment | ACTG1, DIAPH1, RDX | 1.24 |
| 345 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1, VCL | 1.22 |
| 346 | Non-syndromic genetic deafness | Enrichment | ACTG1, RDX | 1.22 |
| 347 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.19 |
| 348 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.19 |
| 349 | Moyamoya disease 1 | Enrichment | DIAPH1 | 1.19 |
| 350 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.19 |
| 351 | Wilms tumor 5 | Enrichment | BRAF | 1.19 |
| 352 | Pendred syndrome | Enrichment | DIAPH1 | 1.19 |
| 353 | Anterior segment dysgenesis 5 | Enrichment | ARHGAP35 | 1.19 |
| 354 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.19 |
| 355 | Typical nemaline myopathy | Enrichment | CFL2 | 1.19 |
| 356 | Cerebral palsy | Enrichment | F2, PDGFRB | 1.16 |
| 357 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 1.14 |
| 358 | Thrombophilia due to thrombin defect | Enrichment | F2 | 1.12 |
| 359 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.12 |
| 360 | Gastrointestinal stromal tumor | Enrichment | PDGFRA | 1.12 |
| 361 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.12 |
| 362 | Hypophosphatemic rickets | Enrichment | FGF23 | 1.12 |
| 363 | Nonsyndromic hearing loss | Enrichment | ACTG1, RDX | 1.10 |
| 364 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.07 |
| 365 | Mosaic variegated aneuploidy syndrome | Enrichment | PAK6 | 1.07 |
| 366 | Orofacial cleft 1 | Enrichment | FGF10 | 1.02 |
| 367 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.02 |
| 368 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | APC2 | 1.02 |
| 369 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.02 |
| 370 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.02 |
| 371 | Primary hyperaldosteronism | Enrichment | BRAF | 1.02 |
| 372 | Ventricular septal defect | Enrichment | BRAF | 1.02 |
| 373 | Colonic benign neoplasm | Enrichment | APC | 1.02 |
| 374 | Cowden syndrome | Enrichment | PIK3CA | 1.02 |
| 375 | Familial thoracic aortic aneurysm and dissection | Enrichment | MYLK | 1.02 |
| 376 | Renal agenesis, bilateral | Enrichment | FGF20 | 1.02 |
| 377 | Thrombocytopenia | Enrichment | ACTN1, WAS | 1.00 |
| 378 | Cat eye syndrome | Enrichment | ACTG1 | 0.97 |
| 379 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 0.97 |
| 380 | Peters-plus syndrome | Enrichment | ARHGAP35 | 0.97 |
| 381 | Stroke, ischemic | Enrichment | F2 | 0.97 |
| 382 | Melanoma | Enrichment | BRAF | 0.97 |
| 383 | Autosomal dominant macrothrombocytopenia | Enrichment | ACTN1 | 0.97 |
| 384 | Isolated tracheo-esophageal fistula | Enrichment | APC2 | 0.97 |
| 385 | Primary bone dysplasia | Enrichment | FGFR3 | 0.97 |
| 386 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1, DIAPH3 | 0.94 |
| 387 | Meningioma, familial | Enrichment | PDGFB | 0.94 |
| 388 | Osteochondrodysplasia | Enrichment | FGFR3 | 0.94 |
| 389 | Specific learning disability | Enrichment | MAPK1 | 0.94 |
| 390 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1, VCL | 0.93 |
| 391 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1, KRAS | 0.90 |
| 392 | Septooptic dysplasia | Enrichment | FGFR1 | 0.90 |
| 393 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 0.90 |
| 394 | Aortic valve disease 1 | Enrichment | SOS1 | 0.87 |
| 395 | Microphthalmia/coloboma 12 | Enrichment | MYH10 | 0.87 |
| 396 | Protein-deficiency anemia | Enrichment | NRAS | 0.87 |
| 397 | Nk-cell enteropathy | Enrichment | PIK3CB | 0.87 |
| 398 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 0.84 |
| 399 | Medulloblastoma | Enrichment | APC | 0.84 |
| 400 | Aortic aneurysm, familial thoracic 1 | Enrichment | MYLK | 0.84 |
| 401 | Generalized epilepsy with febrile seizures plus | Enrichment | FGF13 | 0.84 |
| 402 | Cleft lip/palate | Enrichment | PDGFRA | 0.84 |
| 403 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 0.84 |
| 404 | Coloboma of macula | Enrichment | MYH10 | 0.81 |
| 405 | Wilms tumor 1 | Enrichment | BRAF | 0.81 |
| 406 | Septopreoptic holoprosencephaly | Enrichment | FGF8 | 0.81 |
| 407 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FGF8 | 0.81 |
| 408 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 0.76 |
| 409 | Alobar holoprosencephaly | Enrichment | FGF8 | 0.76 |
| 410 | Inherited cancer-predisposing syndrome | Enrichment | APC, EGFR, PDGFRA | 0.74 |
| 411 | Heart, malformation of | Enrichment | MAPK1 | 0.74 |
| 412 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 0.72 |
| 413 | Esophageal atresia/tracheoesophageal fistula | Enrichment | APC2 | 0.72 |
| 414 | Williams-beuren syndrome | Enrichment | LIMK1 | 0.70 |
| 415 | Lissencephaly | Enrichment | ACTG1 | 0.68 |
| 416 | Centronuclear myopathy | Enrichment | CFL2 | 0.68 |
| 417 | Tooth agenesis | Enrichment | FGFR1 | 0.66 |
| 418 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.63 |
| 419 | Pancreatic cancer | Enrichment | KRAS | 0.61 |
| 420 | Auditory neuropathy | Enrichment | DIAPH1 | 0.60 |
| 421 | Prostate cancer | Enrichment | PIK3CA | 0.56 |
| 422 | Non-immune hydrops fetalis | Enrichment | KRAS | 0.53 |
| 423 | Connective tissue disease | Enrichment | FGFR3 | 0.52 |
| 424 | Cakut | Enrichment | ACTG1 | 0.50 |
| 425 | Left ventricular noncompaction | Enrichment | RAF1 | 0.49 |
| 426 | Non-syndromic x-linked intellectual disability | Enrichment | ARHGEF6 | 0.48 |
| 427 | Epilepsy | Enrichment | DIAPH1 | 0.44 |
| 428 | Nephrotic syndrome | Enrichment | FN1 | 0.42 |
| 429 | Hypertrophic cardiomyopathy | Enrichment | MYL3 | 0.42 |
| 430 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | MYLK | 0.41 |
| 431 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FGF8 | 0.33 |
| 432 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PFN1 | 0.32 |
| 433 | Autosomal recessive non-syndromic intellectual disability | Enrichment | EZR | 0.32 |
| 434 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | RDX | 0.20 |
| 435 | Congenital nervous system abnormality | Enrichment | FGFR3 | 0.16 |
| 436 | Nervous system disease | Enrichment | FGFR3 | 0.16 |
| 437 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.15 |