| 1 | Rasopathy | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS2 | 16.00 |
| 2 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS2 | 10.56 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1 | 10.37 |
| 4 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1, SOS1 | 7.28 |
| 5 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, MAP2K1, NRAS | 6.32 |
| 6 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 6.01 |
| 7 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS, MAP2K1, MAP2K2 | 6.01 |
| 8 | Cardiofaciocutaneous syndrome | Enrichment | KRAS, MAP2K1, MAP2K2 | 6.01 |
| 9 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2, ITGA2B, ITGB3 | 5.31 |
| 10 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 5.07 |
| 11 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS, RAF1 | 4.87 |
| 12 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.40 |
| 13 | Ovarian cancer | Enrichment | AKT1, CDKN1B, KRAS, MET, RB1, RRAS2 | 4.37 |
| 14 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, RRAS | 4.28 |
| 15 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 4.26 |
| 16 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3, STAT3 | 3.93 |
| 17 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGA2B, ITGB3 | 3.93 |
| 18 | Langerhans cell histiocytosis | Enrichment | MAP2K1, NRAS | 3.93 |
| 19 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 3.93 |
| 20 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3R2 | 3.63 |
| 21 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | CRKL, MAPK1 | 3.63 |
| 22 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.63 |
| 23 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.63 |
| 24 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 3.49 |
| 25 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6, ITGB4 | 3.23 |
| 26 | Breast adenocarcinoma | Enrichment | AKT1, KRAS | 3.23 |
| 27 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | CAV3, MYLK2, RAF1 | 3.14 |
| 28 | Bladder cancer | Enrichment | HRAS, KRAS, RB1 | 3.10 |
| 29 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 3.10 |
| 30 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 3.09 |
| 31 | Glanzmann thrombasthenia 1 | Enrichment | ITGA2B, ITGB3 | 3.09 |
| 32 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 3.09 |
| 33 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.09 |
| 34 | Pilomyxoid astrocytoma | Enrichment | KRAS, RAF1 | 3.09 |
| 35 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 3.09 |
| 36 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 2.86 |
| 37 | Junctional epidermolysis bullosa | Enrichment | ITGA6, ITGB4 | 2.86 |
| 38 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 2.76 |
| 39 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGA2B, ITGB3 | 2.76 |
| 40 | Colorectal cancer | Enrichment | AKT1, MET, NRAS, PIK3R1 | 2.65 |
| 41 | Lip and oral cavity carcinoma | Enrichment | HRAS, RB1 | 2.60 |
| 42 | Dilated cardiomyopathy | Enrichment | BRAF, MYPN, RAF1, VCL | 2.53 |
| 43 | Lung cancer susceptibility 3 | Enrichment | KRAS, RB1 | 2.46 |
| 44 | Thrombocytopenia | Enrichment | ITGA2B, ITGB3, SRC | 2.26 |
| 45 | Creatine phosphokinase, elevated serum | Enrichment | CAPN3, CAV3 | 2.21 |
| 46 | Isolated elevated serum creatine phosphokinase levels | Enrichment | CAPN3, CAV3 | 2.21 |
| 47 | Proteus syndrome | Enrichment | AKT1 | 2.20 |
| 48 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.20 |
| 49 | Oculoectodermal syndrome | Enrichment | KRAS | 2.20 |
| 50 | Systemic lupus erythematosus 6 | Enrichment | ITGAM | 2.20 |
| 51 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.20 |
| 52 | Noonan syndrome 5 | Enrichment | RAF1 | 2.20 |
| 53 | Noonan syndrome 4 | Enrichment | SOS1 | 2.20 |
| 54 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.20 |
| 55 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.20 |
| 56 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.20 |
| 57 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.20 |
| 58 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 2.20 |
| 59 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.20 |
| 60 | Noonan syndrome 9 | Enrichment | SOS2 | 2.20 |
| 61 | Noonan syndrome 6 | Enrichment | NRAS | 2.20 |
| 62 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.20 |
| 63 | Noonan syndrome 11 | Enrichment | MRAS | 2.20 |
| 64 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.20 |
| 65 | Short syndrome | Enrichment | PIK3R1 | 2.20 |
| 66 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.20 |
| 67 | Fetomaternal alloimmune thrombocytopenia 2 | Enrichment | ITGA2B | 2.20 |
| 68 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.20 |
| 69 | Osteofibrous dysplasia | Enrichment | MET | 2.20 |
| 70 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.20 |
| 71 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.20 |
| 72 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.20 |
| 73 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.20 |
| 74 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.20 |
| 75 | Melorheostosis | Enrichment | MAP2K1 | 2.20 |
| 76 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.20 |
| 77 | Autism 9 | Enrichment | MET | 2.20 |
| 78 | Leopard syndrome 2 | Enrichment | RAF1 | 2.20 |
| 79 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.20 |
| 80 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.20 |
| 81 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.20 |
| 82 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 2.20 |
| 83 | Cowden syndrome 6 | Enrichment | AKT1 | 2.20 |
| 84 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.20 |
| 85 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.20 |
| 86 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.20 |
| 87 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.20 |
| 88 | Trigonitis | Enrichment | RAF1 | 2.20 |
| 89 | Trilateral retinoblastoma | Enrichment | RB1 | 2.20 |
| 90 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.20 |
| 91 | Amelogenesis imperfecta, type ih | Enrichment | ITGB6 | 2.20 |
| 92 | Capillary hemangioma | Enrichment | AKT3 | 2.20 |
| 93 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.20 |
| 94 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.20 |
| 95 | Cerebral cavernous malformations 5 | Enrichment | MAP3K3 | 2.20 |
| 96 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 2.20 |
| 97 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.20 |
| 98 | Nocarh syndrome | Enrichment | CDC42 | 2.20 |
| 99 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.20 |
| 100 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.20 |
| 101 | Verrucous hemangioma | Enrichment | MAP3K3 | 2.20 |
| 102 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.20 |
| 103 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.20 |
| 104 | Temporomandibular joint anomaly | Enrichment | DOCK1 | 2.20 |
| 105 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.20 |
| 106 | Lung oat cell carcinoma | Enrichment | RB1 | 2.20 |
| 107 | Familial isolated dilated cardiomyopathy | Enrichment | MYPN, RAF1, VCL | 2.14 |
| 108 | Intellectual developmental disorder, x-linked 30 | Enrichment | PAK3 | 2.13 |
| 109 | Pallister-killian syndrome | Enrichment | ARAF | 2.13 |
| 110 | Night blindness, congenital stationary, autosomal dominant 1 | Enrichment | RHO | 2.13 |
| 111 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.13 |
| 112 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 2.13 |
| 113 | Noonan syndrome 7 | Enrichment | BRAF | 2.13 |
| 114 | Leopard syndrome 3 | Enrichment | BRAF | 2.13 |
| 115 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.13 |
| 116 | Vitreoretinopathy, neovascular inflammatory | Enrichment | CAPN5 | 2.13 |
| 117 | Knobloch syndrome 2 | Enrichment | PAK2 | 2.13 |
| 118 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 2.13 |
| 119 | Pulmonary hypertension, primary, 6 | Enrichment | CAPNS1 | 2.13 |
| 120 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 2.13 |
| 121 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.13 |
| 122 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.13 |
| 123 | Lymphangioma | Enrichment | BRAF | 2.13 |
| 124 | Phace association | Enrichment | BRAF | 2.13 |
| 125 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.13 |
| 126 | Retinitis pigmentosa 4 | Enrichment | RHO | 2.13 |
| 127 | Thrombocytopenia 6 | Enrichment | SRC | 2.13 |
| 128 | Congenital myopathy 24 | Enrichment | MYPN | 2.13 |
| 129 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 2.13 |
| 130 | Polycystic ovary syndrome | Enrichment | CAPN10 | 2.13 |
| 131 | Progressive muscular atrophy | Enrichment | CAPN3 | 2.13 |
| 132 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 2.13 |
| 133 | Capillary leak syndrome | Enrichment | TLN1 | 2.13 |
| 134 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 2.13 |
| 135 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.13 |
| 136 | Ganglioglioma | Enrichment | BRAF | 2.13 |
| 137 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.13 |
| 138 | Phace syndrome | Enrichment | BRAF | 2.13 |
| 139 | Qualitative or quantitative defects of calpain | Enrichment | CAPN3 | 2.13 |
| 140 | Classic hairy cell leukemia | Enrichment | BRAF | 2.13 |
| 141 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 2.13 |
| 142 | Breast cancer | Enrichment | AKT1, JUN, KRAS | 1.92 |
| 143 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 1.90 |
| 144 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.90 |
| 145 | Costello syndrome | Enrichment | HRAS | 1.90 |
| 146 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 1.90 |
| 147 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 1.90 |
| 148 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.90 |
| 149 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 1.90 |
| 150 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.90 |
| 151 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.90 |
| 152 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 1.90 |
| 153 | Noonan syndrome 12 | Enrichment | RRAS2 | 1.90 |
| 154 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 1.90 |
| 155 | Childhood hepatocellular carcinoma | Enrichment | MET | 1.90 |
| 156 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.90 |
| 157 | Papillary renal cell carcinoma | Enrichment | MET | 1.90 |
| 158 | Immune system disease | Enrichment | CDC42 | 1.90 |
| 159 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.90 |
| 160 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 1.90 |
| 161 | Familial retinoblastoma | Enrichment | RB1 | 1.90 |
| 162 | Tafro syndrome | Enrichment | MAP2K2 | 1.90 |
| 163 | Wooly hair nevus | Enrichment | HRAS | 1.90 |
| 164 | Scoliosis, isolated 1 | Enrichment | MAPK7 | 1.83 |
| 165 | Spastic paraplegia 76, autosomal recessive | Enrichment | CAPN1 | 1.83 |
| 166 | Cardiomyopathy, dilated, 1kk | Enrichment | MYPN | 1.83 |
| 167 | Neuropathy, congenital hypomyelinating, 2 | Enrichment | RHO | 1.83 |
| 168 | Optic disk drusen | Enrichment | RHO | 1.83 |
| 169 | Qualitative or quantitative defects of caveolin-3 | Enrichment | CAV3 | 1.83 |
| 170 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 1.79 |
| 171 | Lung cancer | Enrichment | KRAS, MET | 1.76 |
| 172 | Jacobsen syndrome | Enrichment | ETS1 | 1.72 |
| 173 | Retinoblastoma | Enrichment | RB1 | 1.72 |
| 174 | Nuchal bleb, familial | Enrichment | SOS1 | 1.72 |
| 175 | Osteogenic sarcoma | Enrichment | RB1 | 1.72 |
| 176 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.72 |
| 177 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | Enrichment | ITGA7 | 1.72 |
| 178 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.72 |
| 179 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.72 |
| 180 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 1.72 |
| 181 | Hypotrichosis 8 | Enrichment | RB1 | 1.72 |
| 182 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 1.72 |
| 183 | Hyper ige syndrome | Enrichment | STAT3 | 1.72 |
| 184 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.72 |
| 185 | Squamous cell carcinoma | Enrichment | RB1 | 1.72 |
| 186 | Bone osteosarcoma | Enrichment | RB1 | 1.72 |
| 187 | Spermatocytoma | Enrichment | HRAS | 1.72 |
| 188 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.72 |
| 189 | Alopecia - intellectual disability syndrome | Enrichment | ITGB6 | 1.72 |
| 190 | Renal cell carcinoma | Enrichment | MET | 1.72 |
| 191 | Type 1 diabetes mellitus 2 | Enrichment | CAPN10 | 1.65 |
| 192 | Ataxia-telangiectasia | Enrichment | BRAF | 1.65 |
| 193 | Rippling muscle disease 2 | Enrichment | CAV3 | 1.65 |
| 194 | Long qt syndrome 9 | Enrichment | CAV3 | 1.65 |
| 195 | Myopathy, distal, tateyama type | Enrichment | CAV3 | 1.65 |
| 196 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | Enrichment | CAPN3 | 1.65 |
| 197 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.65 |
| 198 | Autosomal recessive limb-girdle muscular dystrophy type 2a | Enrichment | CAPN3 | 1.65 |
| 199 | Microcephaly 17, primary, autosomal recessive | Enrichment | RHO | 1.65 |
| 200 | Cap myopathy | Enrichment | MYPN | 1.65 |
| 201 | Familial hypertrophic cardiomyopathy | Enrichment | CAV3, RAF1 | 1.60 |
| 202 | Amelogenesis imperfecta, type iiia | Enrichment | ITGB6 | 1.60 |
| 203 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.60 |
| 204 | Small cell cancer of the lung | Enrichment | RB1 | 1.60 |
| 205 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.60 |
| 206 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 1.60 |
| 207 | Retinitis pigmentosa 26 | Enrichment | ITGA4 | 1.60 |
| 208 | Lynch syndrome 4 | Enrichment | RB1 | 1.60 |
| 209 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.60 |
| 210 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.60 |
| 211 | Hereditary ataxia | Enrichment | PRKCG | 1.60 |
| 212 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.60 |
| 213 | Pilocytic astrocytoma | Enrichment | KRAS | 1.60 |
| 214 | Epidermolytic nevus | Enrichment | HRAS | 1.60 |
| 215 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.60 |
| 216 | Gingival fibromatosis | Enrichment | SOS1 | 1.60 |
| 217 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.60 |
| 218 | Systemic lupus erythematosus | Enrichment | ETS1, ITGAM | 1.60 |
| 219 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 1.58 |
| 220 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.53 |
| 221 | Craniopharyngioma | Enrichment | BRAF | 1.53 |
| 222 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.53 |
| 223 | Knobloch syndrome | Enrichment | PAK2 | 1.53 |
| 224 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 1.50 |
| 225 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.50 |
| 226 | Epidermolysis bullosa | Enrichment | ITGA6 | 1.50 |
| 227 | Histiocytoid hemangioma | Enrichment | FOS | 1.50 |
| 228 | Aplasia cutis congenita | Enrichment | ITGB4 | 1.50 |
| 229 | Hemimegalencephaly | Enrichment | AKT3 | 1.50 |
| 230 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS | 1.50 |
| 231 | Retinal detachment | Enrichment | RHO | 1.44 |
| 232 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.44 |
| 233 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | PAK6 | 1.44 |
| 234 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | CAPN3 | 1.44 |
| 235 | Night blindness | Enrichment | RHO | 1.44 |
| 236 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1 | 1.44 |
| 237 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4 | 1.43 |
| 238 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4 | 1.43 |
| 239 | Lung squamous cell carcinoma | Enrichment | KRAS | 1.43 |
| 240 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.36 |
| 241 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 1.36 |
| 242 | Gallbladder cancer | Enrichment | KRAS | 1.36 |
| 243 | Megacolon | Enrichment | AKT3 | 1.36 |
| 244 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 1.36 |
| 245 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.36 |
| 246 | Muscular dystrophy, limb-girdle, autosomal recessive 1 | Enrichment | CAPN3 | 1.36 |
| 247 | Wilms tumor 5 | Enrichment | BRAF | 1.36 |
| 248 | Limited scleroderma | Enrichment | CAV1 | 1.36 |
| 249 | Myeloma, multiple | Enrichment | KRAS, PIK3R2 | 1.31 |
| 250 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.30 |
| 251 | Renal hypodysplasia/aplasia 1 | Enrichment | ITGA8 | 1.30 |
| 252 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.30 |
| 253 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.30 |
| 254 | Fundus albipunctatus | Enrichment | RHO | 1.29 |
| 255 | Myelofibrosis | Enrichment | SRC | 1.29 |
| 256 | Coats disease | Enrichment | RHO | 1.29 |
| 257 | Childhood-onset nemaline myopathy | Enrichment | MYPN | 1.29 |
| 258 | Familial isolated restrictive cardiomyopathy | Enrichment | MYPN | 1.29 |
| 259 | Inherited cancer-predisposing syndrome | Enrichment | CDKN1B, MET, RB1 | 1.29 |
| 260 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.25 |
| 261 | Cowden syndrome | Enrichment | AKT1 | 1.25 |
| 262 | Renal agenesis, bilateral | Enrichment | ITGA8 | 1.25 |
| 263 | Myopathy, tubular aggregate, 1 | Enrichment | CAV3 | 1.24 |
| 264 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.24 |
| 265 | Congenital muscular dystrophy | Enrichment | CAPN3 | 1.24 |
| 266 | Mosaic variegated aneuploidy syndrome | Enrichment | PAK6 | 1.24 |
| 267 | Amelogenesis imperfecta, type ie | Enrichment | ITGB6 | 1.21 |
| 268 | Polymicrogyria | Enrichment | AKT3 | 1.21 |
| 269 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.21 |
| 270 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.19 |
| 271 | Primary hyperaldosteronism | Enrichment | BRAF | 1.19 |
| 272 | Ventricular septal defect | Enrichment | BRAF | 1.19 |
| 273 | Limb-girdle muscular dystrophy | Enrichment | CAPN3 | 1.19 |
| 274 | Specific learning disability | Enrichment | MAPK1 | 1.17 |
| 275 | Nemaline myopathy | Enrichment | MYPN | 1.14 |
| 276 | Melanoma | Enrichment | BRAF | 1.14 |
| 277 | Meningioma | Enrichment | AKT1 | 1.13 |
| 278 | Migraine with or without aura 1 | Enrichment | CAPN3 | 1.10 |
| 279 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.10 |
| 280 | Aortic valve disease 1 | Enrichment | SOS1 | 1.10 |
| 281 | Neural tube defects | Enrichment | ITGB1 | 1.10 |
| 282 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.10 |
| 283 | Protein-deficiency anemia | Enrichment | NRAS | 1.10 |
| 284 | Multiple sclerosis | Enrichment | ITGB4 | 1.07 |
| 285 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.07 |
| 286 | Isolated macular dystrophy | Enrichment | ITGA4 | 1.07 |
| 287 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | CAPN3 | 1.07 |
| 288 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 1.04 |
| 289 | Congenital myopathy 4a, autosomal dominant | Enrichment | ITGA7 | 1.04 |
| 290 | Lynch syndrome | Enrichment | KRAS | 1.04 |
| 291 | Cone-rod dystrophy 2 | Enrichment | ITGA4, RHO | 1.04 |
| 292 | Rhabdomyosarcoma | Enrichment | HRAS | 1.01 |
| 293 | Osteoporosis | Enrichment | SRC | 1.00 |
| 294 | Cataract | Enrichment | RHO | 1.00 |
| 295 | Wilms tumor 1 | Enrichment | BRAF | 0.97 |
| 296 | Heart, malformation of | Enrichment | MAPK1 | 0.97 |
| 297 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF, MET | 0.96 |
| 298 | Arteriovenous malformations of the brain | Enrichment | KRAS | 0.94 |
| 299 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 0.94 |
| 300 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 0.92 |
| 301 | Dandy-walker syndrome | Enrichment | BRAF | 0.92 |
| 302 | Sudden infant death syndrome | Enrichment | CAV3 | 0.92 |
| 303 | Hepatocellular carcinoma | Enrichment | MET | 0.88 |
| 304 | Myocardial infarction | Enrichment | ITGB3 | 0.88 |
| 305 | Skin disease | Enrichment | ITGB4 | 0.88 |
| 306 | Congenital myopathy | Enrichment | MYPN | 0.88 |
| 307 | Autosomal recessive limb-girdle muscular dystrophy | Enrichment | CAPN3 | 0.88 |
| 308 | Pancreatic cancer | Enrichment | KRAS | 0.83 |
| 309 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.82 |
| 310 | Congenital stationary night blindness | Enrichment | RHO | 0.80 |
| 311 | Muscular dystrophy | Enrichment | CAPN3 | 0.78 |
| 312 | Severe covid-19 | Enrichment | ITGAV | 0.77 |
| 313 | Primary autosomal recessive microcephaly | Enrichment | CDK6 | 0.73 |
| 314 | Left ventricular noncompaction | Enrichment | RAF1 | 0.70 |
| 315 | Long qt syndrome 1 | Enrichment | CAV3 | 0.70 |
| 316 | Long qt syndrome | Enrichment | CAV3 | 0.68 |
| 317 | Microcephaly | Enrichment | MAPK1, PAK3 | 0.63 |
| 318 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.63 |
| 319 | Complex neurodevelopmental disorder | Enrichment | PAK3, RAC3 | 0.63 |
| 320 | Gastric cancer | Enrichment | KRAS | 0.62 |
| 321 | Nephrotic syndrome | Enrichment | ITGA3 | 0.62 |
| 322 | Myopathy | Enrichment | CAPN3 | 0.59 |
| 323 | Sensorineural hearing loss | Enrichment | HGF | 0.58 |
| 324 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.53 |
| 325 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.30 |
| 326 | Hereditary retinal dystrophy | Enrichment | ITGA4, RHO | 0.19 |
| 327 | Fundus dystrophy | Enrichment | ITGA4, RHO | 0.19 |
| 328 | Retinitis pigmentosa | Enrichment | RHO | 0.10 |