| 1 | Rasopathy | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1 | 16.00 |
| 2 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 11.11 |
| 3 | Lung non-small cell carcinoma | Enrichment | EGFR, HRAS, KRAS, MAP2K1, NRAS | 10.56 |
| 4 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1 | 10.51 |
| 5 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1, SOS1 | 9.28 |
| 6 | Nevus, epidermal | Enrichment | FGFR3, HRAS, KRAS, NRAS | 7.86 |
| 7 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.50 |
| 8 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS, MAP2K1, MAP2K2 | 7.50 |
| 9 | Cardiofaciocutaneous syndrome | Enrichment | KRAS, MAP2K1, MAP2K2 | 7.50 |
| 10 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS, RAF1 | 6.36 |
| 11 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS, PTEN | 5.96 |
| 12 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS, PTEN | 5.96 |
| 13 | Pilomyxoid astrocytoma | Enrichment | FGFR1, KRAS, RAF1 | 5.50 |
| 14 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.39 |
| 15 | Langerhans cell histiocytosis | Enrichment | MAP2K1, NRAS | 4.91 |
| 16 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.91 |
| 17 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 4.69 |
| 18 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 4.69 |
| 19 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1, KRAS | 4.69 |
| 20 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.61 |
| 21 | Bladder cancer | Enrichment | EGFR, HRAS, KRAS | 4.56 |
| 22 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 4.56 |
| 23 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS | 4.21 |
| 24 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.21 |
| 25 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 4.21 |
| 26 | Spermatocytoma | Enrichment | FGFR3, HRAS | 4.21 |
| 27 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 4.07 |
| 28 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.07 |
| 29 | Breast cancer | Enrichment | AKT1, KRAS, PTEN, SHC1 | 4.00 |
| 30 | Hemimegalencephaly | Enrichment | AKT3, PTEN | 3.99 |
| 31 | Breast adenocarcinoma | Enrichment | AKT1, KRAS | 3.94 |
| 32 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 3.91 |
| 33 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 3.83 |
| 34 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 3.74 |
| 35 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 3.69 |
| 36 | Pre-eclampsia | Enrichment | FLT1, NOS3 | 3.69 |
| 37 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 3.57 |
| 38 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS | 3.57 |
| 39 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3 | 3.57 |
| 40 | Cowden syndrome | Enrichment | AKT1, PTEN | 3.44 |
| 41 | Osteoporosis | Enrichment | COL1A1, SRC | 3.43 |
| 42 | Lung cancer susceptibility 3 | Enrichment | EGFR, KRAS | 3.43 |
| 43 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PTEN | 3.42 |
| 44 | Colorectal cancer | Enrichment | AKT1, FGFR2, FGFR3, NRAS | 3.18 |
| 45 | Meningioma | Enrichment | AKT1, PTEN | 3.18 |
| 46 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 3.16 |
| 47 | Stroke, ischemic | Enrichment | NOS3, PRKCH | 3.04 |
| 48 | Rhabdomyosarcoma | Enrichment | HRAS, PTEN | 2.92 |
| 49 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.73 |
| 50 | Lung cancer | Enrichment | EGFR, KRAS | 2.71 |
| 51 | Oculoectodermal syndrome | Enrichment | KRAS | 2.69 |
| 52 | Noonan syndrome 5 | Enrichment | RAF1 | 2.69 |
| 53 | Noonan syndrome 4 | Enrichment | SOS1 | 2.69 |
| 54 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.69 |
| 55 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.69 |
| 56 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.69 |
| 57 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.69 |
| 58 | Noonan syndrome 6 | Enrichment | NRAS | 2.69 |
| 59 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.69 |
| 60 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.69 |
| 61 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.69 |
| 62 | Melorheostosis | Enrichment | MAP2K1 | 2.69 |
| 63 | Leopard syndrome 2 | Enrichment | RAF1 | 2.69 |
| 64 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.69 |
| 65 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.69 |
| 66 | Thrombocytopenia 6 | Enrichment | SRC | 2.69 |
| 67 | Trigonitis | Enrichment | RAF1 | 2.69 |
| 68 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.69 |
| 69 | Capillary hemangioma | Enrichment | AKT3 | 2.69 |
| 70 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.69 |
| 71 | Capillary leak syndrome | Enrichment | TLN1 | 2.69 |
| 72 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.69 |
| 73 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.69 |
| 74 | Gliosarcoma | Enrichment | FGFR1, FGFR3 | 2.63 |
| 75 | Giant cell glioblastoma | Enrichment | FGFR1, FGFR3 | 2.57 |
| 76 | Proteus syndrome | Enrichment | AKT1 | 2.55 |
| 77 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.55 |
| 78 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 2.55 |
| 79 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.55 |
| 80 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 2.55 |
| 81 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 2.55 |
| 82 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.55 |
| 83 | Cowden syndrome 6 | Enrichment | AKT1 | 2.55 |
| 84 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.55 |
| 85 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.55 |
| 86 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 2.55 |
| 87 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.55 |
| 88 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 2.55 |
| 89 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 2.55 |
| 90 | Nocarh syndrome | Enrichment | CDC42 | 2.55 |
| 91 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.55 |
| 92 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 2.55 |
| 93 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.55 |
| 94 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 2.52 |
| 95 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.49 |
| 96 | Muscular dystrophy-dystroglycanopathy , type a, 9 | Enrichment | DAG1 | 2.49 |
| 97 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.49 |
| 98 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.49 |
| 99 | Charcot-marie-tooth disease, axonal, type 2f | Enrichment | HSPB1 | 2.49 |
| 100 | Muscular dystrophy-dystroglycanopathy , type c, 9 | Enrichment | DAG1 | 2.49 |
| 101 | Glioma susceptibility 2 | Enrichment | PTEN | 2.49 |
| 102 | Macular dystrophy, patterned, 3 | Enrichment | MAPKAPK3 | 2.49 |
| 103 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | Enrichment | DAG1 | 2.49 |
| 104 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.49 |
| 105 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.43 |
| 106 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.38 |
| 107 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.38 |
| 108 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 2.38 |
| 109 | Costello syndrome | Enrichment | HRAS | 2.38 |
| 110 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 2.38 |
| 111 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.38 |
| 112 | Pulmonic stenosis | Enrichment | SOS1 | 2.38 |
| 113 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.38 |
| 114 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.38 |
| 115 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1 | 2.38 |
| 116 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.38 |
| 117 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.38 |
| 118 | Immune system disease | Enrichment | PIK3CD | 2.38 |
| 119 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.38 |
| 120 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1 | 2.38 |
| 121 | Tafro syndrome | Enrichment | MAP2K2 | 2.38 |
| 122 | Wooly hair nevus | Enrichment | HRAS | 2.38 |
| 123 | Ovarian cancer | Enrichment | AKT1, KRAS, PTEN | 2.37 |
| 124 | Hypochondroplasia | Enrichment | FGFR3 | 2.34 |
| 125 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.34 |
| 126 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.34 |
| 127 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.34 |
| 128 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.34 |
| 129 | Muenke syndrome | Enrichment | FGFR3 | 2.34 |
| 130 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.34 |
| 131 | Apert syndrome | Enrichment | FGFR2 | 2.34 |
| 132 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.34 |
| 133 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.34 |
| 134 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.34 |
| 135 | Hereditary lymphedema id | Enrichment | VEGFC | 2.34 |
| 136 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.34 |
| 137 | Oculoskeletodental syndrome | Enrichment | PIK3C2A | 2.34 |
| 138 | Lymphatic malformation 4 | Enrichment | VEGFC | 2.34 |
| 139 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.34 |
| 140 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.34 |
| 141 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.34 |
| 142 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.34 |
| 143 | Hartsfield syndrome | Enrichment | FGFR1 | 2.34 |
| 144 | Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome | Enrichment | PIGF | 2.34 |
| 145 | Tufted angioma of skin | Enrichment | KDR | 2.34 |
| 146 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.34 |
| 147 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.34 |
| 148 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.34 |
| 149 | Congenital primary lymphedema of gordon | Enrichment | VEGFC | 2.34 |
| 150 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.34 |
| 151 | Oculocerebrodental syndrome | Enrichment | PIK3C2A | 2.34 |
| 152 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.34 |
| 153 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.34 |
| 154 | Scoliosis, isolated 1 | Enrichment | MAPK7 | 2.25 |
| 155 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.25 |
| 156 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.25 |
| 157 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 2.21 |
| 158 | Nuchal bleb, familial | Enrichment | SOS1 | 2.21 |
| 159 | Caffey disease | Enrichment | COL1A1 | 2.21 |
| 160 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.21 |
| 161 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD | 2.21 |
| 162 | Immunodeficiency 14 | Enrichment | PIK3CD | 2.21 |
| 163 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1 | 2.21 |
| 164 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.21 |
| 165 | Neuronopathy, distal hereditary motor, autosomal dominant 3 | Enrichment | HSPB1 | 2.19 |
| 166 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.19 |
| 167 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.19 |
| 168 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD2, SMAD3 | 2.17 |
| 169 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1 | 2.08 |
| 170 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.08 |
| 171 | Phenylketonuria | Enrichment | COL1A1 | 2.08 |
| 172 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 2.08 |
| 173 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3 | 2.08 |
| 174 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.08 |
| 175 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 2.08 |
| 176 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.08 |
| 177 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 2.08 |
| 178 | Pilocytic astrocytoma | Enrichment | KRAS | 2.08 |
| 179 | Epidermolytic nevus | Enrichment | HRAS | 2.08 |
| 180 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1 | 2.08 |
| 181 | Gingival fibromatosis | Enrichment | SOS1 | 2.08 |
| 182 | Loeys-dietz syndrome 1 | Enrichment | SMAD2 | 2.08 |
| 183 | Gastric cancer | Enrichment | KRAS, PTEN | 2.07 |
| 184 | Sorsby fundus dystrophy | Enrichment | TIMP3 | 2.04 |
| 185 | Cervical cancer | Enrichment | FGFR3 | 2.04 |
| 186 | Aural atresia, congenital | Enrichment | FGFR2 | 2.04 |
| 187 | Keratosis, seborrheic | Enrichment | FGFR3 | 2.04 |
| 188 | Angioma, tufted | Enrichment | KDR | 2.04 |
| 189 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.04 |
| 190 | Split hand-foot malformation | Enrichment | FGFR2 | 2.04 |
| 191 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 2.04 |
| 192 | Cervix carcinoma | Enrichment | FGFR3 | 2.04 |
| 193 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 2.04 |
| 194 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.04 |
| 195 | Bacteremia 2 | Enrichment | MAPKAPK3 | 2.01 |
| 196 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 2.01 |
| 197 | Hereditary ataxia | Enrichment | PRKCG | 1.95 |
| 198 | Aortic aneurysm | Enrichment | SMAD3 | 1.95 |
| 199 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.95 |
| 200 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1 | 1.91 |
| 201 | Osteogenesis imperfecta, type i | Enrichment | COL1A1 | 1.91 |
| 202 | Cowden syndrome 1 | Enrichment | EGFR | 1.91 |
| 203 | Keratoconus | Enrichment | COL1A1 | 1.91 |
| 204 | Classic ehlers-danlos syndrome | Enrichment | COL1A1 | 1.91 |
| 205 | Tuberculosis | Enrichment | MAPKAPK3 | 1.89 |
| 206 | Glioma | Enrichment | PTEN | 1.89 |
| 207 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.86 |
| 208 | Achondroplasia | Enrichment | FGFR3 | 1.86 |
| 209 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.86 |
| 210 | Larsen syndrome | Enrichment | FGFR3 | 1.86 |
| 211 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.86 |
| 212 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.86 |
| 213 | Hamartoma | Enrichment | FGFR3 | 1.86 |
| 214 | Testicular germ cell cancer | Enrichment | FGFR3 | 1.86 |
| 215 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.86 |
| 216 | Testicular cancer | Enrichment | FGFR3 | 1.86 |
| 217 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, PTEN | 1.86 |
| 218 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1 | 1.84 |
| 219 | Myelofibrosis | Enrichment | SRC | 1.84 |
| 220 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.84 |
| 221 | Gallbladder cancer | Enrichment | KRAS | 1.84 |
| 222 | Megacolon | Enrichment | AKT3 | 1.84 |
| 223 | Neuronopathy, distal hereditary motor, autosomal dominant 2 | Enrichment | HSPB1 | 1.79 |
| 224 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.79 |
| 225 | Hemangioma | Enrichment | PTEN | 1.79 |
| 226 | Acute megakaryocytic leukemia | Enrichment | PTEN | 1.79 |
| 227 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.79 |
| 228 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.74 |
| 229 | Polymicrogyria | Enrichment | AKT3 | 1.69 |
| 230 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD | 1.69 |
| 231 | Primary bone dysplasia | Enrichment | COL1A1 | 1.69 |
| 232 | Osteochondrodysplasia | Enrichment | COL1A1 | 1.65 |
| 233 | Specific learning disability | Enrichment | MAPK1 | 1.65 |
| 234 | Alzheimer disease 2 | Enrichment | NOS3 | 1.64 |
| 235 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.64 |
| 236 | Holoprosencephaly | Enrichment | FGFR1 | 1.64 |
| 237 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.64 |
| 238 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.60 |
| 239 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.60 |
| 240 | Aortic valve disease 1 | Enrichment | SOS1 | 1.58 |
| 241 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1 | 1.58 |
| 242 | Neural tube defects | Enrichment | ITGB1 | 1.58 |
| 243 | Protein-deficiency anemia | Enrichment | NRAS | 1.58 |
| 244 | Myeloma, multiple | Enrichment | FGFR3, KRAS | 1.57 |
| 245 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.57 |
| 246 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.57 |
| 247 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.57 |
| 248 | Hemangioma, capillary infantile | Enrichment | KDR | 1.57 |
| 249 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.57 |
| 250 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.57 |
| 251 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.54 |
| 252 | Primary ovarian insufficiency | Enrichment | KDR, NOS3 | 1.53 |
| 253 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1 | 1.52 |
| 254 | Lynch syndrome | Enrichment | KRAS | 1.52 |
| 255 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.50 |
| 256 | Melanoma | Enrichment | PTEN | 1.50 |
| 257 | Meningioma, familial | Enrichment | PTEN | 1.45 |
| 258 | Uterine corpus cancer | Enrichment | PTEN | 1.45 |
| 259 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.45 |
| 260 | Heart, malformation of | Enrichment | MAPK1 | 1.44 |
| 261 | Ehlers-danlos syndrome | Enrichment | COL1A1 | 1.41 |
| 262 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.41 |
| 263 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.39 |
| 264 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.39 |
| 265 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.38 |
| 266 | Walker-warburg syndrome | Enrichment | DAG1 | 1.35 |
| 267 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.35 |
| 268 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.35 |
| 269 | Brittle bone disorder | Enrichment | COL1A1 | 1.33 |
| 270 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.31 |
| 271 | Autism spectrum disorder | Enrichment | MAP2K1, PTEN | 1.31 |
| 272 | Pancreatic cancer | Enrichment | KRAS | 1.30 |
| 273 | Creatine phosphokinase, elevated serum | Enrichment | DAG1 | 1.30 |
| 274 | Isolated elevated serum creatine phosphokinase levels | Enrichment | DAG1 | 1.30 |
| 275 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.28 |
| 276 | Septooptic dysplasia | Enrichment | FGFR1 | 1.27 |
| 277 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.27 |
| 278 | Diffuse large b-cell lymphoma | Enrichment | PTEN | 1.22 |
| 279 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.21 |
| 280 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.18 |
| 281 | Endometrial cancer | Enrichment | PTEN | 1.18 |
| 282 | Hydrocephalus | Enrichment | FGFR2 | 1.18 |
| 283 | Left ventricular noncompaction | Enrichment | RAF1 | 1.16 |
| 284 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.15 |
| 285 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.15 |
| 286 | Malaria | Enrichment | MAPKAPK3 | 1.14 |
| 287 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 1.13 |
| 288 | Hypertension, essential | Enrichment | NOS3 | 1.13 |
| 289 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 1.10 |
| 290 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.10 |
| 291 | Nephrotic syndrome | Enrichment | FN1 | 1.07 |
| 292 | Connective tissue disease | Enrichment | SMAD3 | 1.07 |
| 293 | Prostate cancer | Enrichment | PTEN | 1.05 |
| 294 | Hepatoblastoma | Enrichment | FGFR3 | 1.04 |
| 295 | Thrombocytopenia | Enrichment | SRC | 1.02 |
| 296 | Myocardial infarction | Enrichment | ITGB3 | 1.02 |
| 297 | Tooth agenesis | Enrichment | FGFR1 | 1.02 |
| 298 | Kallmann syndrome | Enrichment | FGFR1 | 1.00 |
| 299 | Hypertelorism | Enrichment | COL1A1 | 0.99 |
| 300 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.98 |
| 301 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.95 |
| 302 | Tetralogy of fallot | Enrichment | KDR | 0.95 |
| 303 | Severe covid-19 | Enrichment | ITGAV | 0.90 |
| 304 | Charcot-marie-tooth disease | Enrichment | HSPB1 | 0.90 |
| 305 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.82 |
| 306 | Microcephaly | Enrichment | MAPK1 | 0.65 |
| 307 | Inherited cancer-predisposing syndrome | Enrichment | EGFR | 0.62 |
| 308 | Congenital nervous system abnormality | Enrichment | PTEN | 0.53 |
| 309 | Nervous system disease | Enrichment | PTEN | 0.53 |
| 310 | Complex neurodevelopmental disorder | Enrichment | RAC3 | 0.53 |
| 311 | Hereditary retinal dystrophy | Enrichment | TIMP3 | 0.13 |
| 312 | Fundus dystrophy | Enrichment | TIMP3 | 0.13 |