| 1 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, MRAS, NRAS, RRAS, RRAS2 | 9.41 |
| 2 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2, HRAS, KRAS, NRAS | 9.33 |
| 3 | Rasopathy | Enrichment | HRAS, KRAS, MRAS, NRAS, RRAS2 | 7.21 |
| 4 | Bladder cancer | Enrichment | EGFR, ERBB2, ERBB3, HRAS, KRAS | 6.96 |
| 5 | Postsynaptic congenital myasthenic syndromes | Enrichment | AGRN, CHRNA1, MUSK, RAPSN | 6.90 |
| 6 | Lung cancer susceptibility 3 | Enrichment | ACTA2, EGFR, ERBB2, KRAS | 6.60 |
| 7 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 6.58 |
| 8 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 5.64 |
| 9 | Non-immune hydrops fetalis | Enrichment | ACTA1, CHRNA1, HRAS, KRAS | 5.12 |
| 10 | Lung cancer | Enrichment | ACTA2, EGFR, ERBB2, KRAS | 5.07 |
| 11 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, RRAS | 4.85 |
| 12 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.78 |
| 13 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.78 |
| 14 | Congenital myasthenic syndrome | Enrichment | AGRN, CHRNA1, RAPSN | 4.63 |
| 15 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS | 4.53 |
| 16 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.30 |
| 17 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.00 |
| 18 | Hydrops fetalis, nonimmune | Enrichment | ACTA1, CHRNA1, HRAS | 3.79 |
| 19 | Hirschsprung disease 1 | Enrichment | ERBB2, ERBB3, NRG3 | 3.65 |
| 20 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 3.65 |
| 21 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS | 3.60 |
| 22 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 3.46 |
| 23 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.46 |
| 24 | Noonan syndrome 3 | Enrichment | HRAS, KRAS | 3.46 |
| 25 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 3.46 |
| 26 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 3.34 |
| 27 | Multiple pterygium syndrome, lethal type | Enrichment | CHRNA1, RAPSN | 3.34 |
| 28 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1, MUSK, RAPSN | 3.33 |
| 29 | Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency | Enrichment | MUSK, RAPSN | 3.13 |
| 30 | Ovarian cancer | Enrichment | EGFR, ERBB2, KRAS, RRAS2 | 3.10 |
| 31 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS | 2.97 |
| 32 | Microcephaly | Enrichment | ACTB, ACTG1, MAPK1, PAK3 | 2.78 |
| 33 | Creatine phosphokinase, elevated serum | Enrichment | DAG1, LAMA2 | 2.71 |
| 34 | Isolated elevated serum creatine phosphokinase levels | Enrichment | DAG1, LAMA2 | 2.71 |
| 35 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 2.56 |
| 36 | Congenital myopathy | Enrichment | ACTA1, CHRNA1 | 2.56 |
| 37 | Centronuclear myopathy | Enrichment | ACTA1, CHRNA1 | 2.48 |
| 38 | Erythroleukemia, familial | Enrichment | ERBB3 | 2.38 |
| 39 | Paget disease, extramammary | Enrichment | ERBB2 | 2.38 |
| 40 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.38 |
| 41 | Oculoectodermal syndrome | Enrichment | KRAS | 2.38 |
| 42 | Intellectual developmental disorder, x-linked 30 | Enrichment | PAK3 | 2.38 |
| 43 | Systemic lupus erythematosus 6 | Enrichment | ITGAM | 2.38 |
| 44 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 2.38 |
| 45 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.38 |
| 46 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | Enrichment | RAPSN | 2.38 |
| 47 | Muscular dystrophy-dystroglycanopathy , type a, 9 | Enrichment | DAG1 | 2.38 |
| 48 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.38 |
| 49 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.38 |
| 50 | Lethal congenital contracture syndrome 2 | Enrichment | ERBB3 | 2.38 |
| 51 | Noonan syndrome 6 | Enrichment | NRAS | 2.38 |
| 52 | Fetal akinesia deformation sequence 2 | Enrichment | RAPSN | 2.38 |
| 53 | Noonan syndrome 11 | Enrichment | MRAS | 2.38 |
| 54 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.38 |
| 55 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.38 |
| 56 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.38 |
| 57 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | Enrichment | MUSK | 2.38 |
| 58 | Knobloch syndrome 2 | Enrichment | PAK2 | 2.38 |
| 59 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 2.38 |
| 60 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.38 |
| 61 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.38 |
| 62 | Intellectual developmental disorder, x-linked 46 | Enrichment | ARHGEF6 | 2.38 |
| 63 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 2.38 |
| 64 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.38 |
| 65 | Becker nevus syndrome | Enrichment | ACTB | 2.38 |
| 66 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.38 |
| 67 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.38 |
| 68 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.38 |
| 69 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 2.38 |
| 70 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.38 |
| 71 | Muscular dystrophy-dystroglycanopathy , type c, 9 | Enrichment | DAG1 | 2.38 |
| 72 | Thrombocytopenia 6 | Enrichment | SRC | 2.38 |
| 73 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.38 |
| 74 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.38 |
| 75 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.38 |
| 76 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 2.38 |
| 77 | Baraitser-winter syndrome | Enrichment | ACTB | 2.38 |
| 78 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.38 |
| 79 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.38 |
| 80 | Zebra body myopathy | Enrichment | ACTA1 | 2.38 |
| 81 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 2.38 |
| 82 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.38 |
| 83 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 2.38 |
| 84 | Nocarh syndrome | Enrichment | CDC42 | 2.38 |
| 85 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.38 |
| 86 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | Enrichment | DAG1 | 2.38 |
| 87 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.38 |
| 88 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.38 |
| 89 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.38 |
| 90 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.38 |
| 91 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 2.38 |
| 92 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.38 |
| 93 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.38 |
| 94 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.38 |
| 95 | Laminin subunit alpha 2-related muscular dystrophy | Enrichment | LAMA2 | 2.38 |
| 96 | Colorectal cancer | Enrichment | ERBB2, NRAS, SRC | 2.26 |
| 97 | Costello syndrome | Enrichment | HRAS | 2.08 |
| 98 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | ERBB3 | 2.08 |
| 99 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 2.08 |
| 100 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.08 |
| 101 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 2.08 |
| 102 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.08 |
| 103 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 2.08 |
| 104 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.08 |
| 105 | Moyamoya disease 5 | Enrichment | ACTA2 | 2.08 |
| 106 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.08 |
| 107 | Noonan syndrome 12 | Enrichment | RRAS2 | 2.08 |
| 108 | Immune system disease | Enrichment | CDC42 | 2.08 |
| 109 | Intestinal obstruction | Enrichment | ACTG2 | 2.08 |
| 110 | Wooly hair nevus | Enrichment | HRAS | 2.08 |
| 111 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 1.93 |
| 112 | Myopathy | Enrichment | ACTA1, RAPSN | 1.93 |
| 113 | Muscular dystrophy, duchenne type | Enrichment | UTRN | 1.91 |
| 114 | Langerhans cell histiocytosis | Enrichment | NRAS | 1.91 |
| 115 | Muscular dystrophy, congenital merosin-deficient, 1a | Enrichment | LAMA2 | 1.91 |
| 116 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.91 |
| 117 | Bronchopulmonary dysplasia | Enrichment | MUSK | 1.91 |
| 118 | Spermatocytoma | Enrichment | HRAS | 1.91 |
| 119 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.91 |
| 120 | Lama2-related muscular dystrophy | Enrichment | LAMA2 | 1.91 |
| 121 | Distal arthrogryposis | Enrichment | ACTA1, RAPSN | 1.89 |
| 122 | Gastric cancer | Enrichment | ERBB2, KRAS | 1.87 |
| 123 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 1.78 |
| 124 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.78 |
| 125 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.78 |
| 126 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1 | 1.78 |
| 127 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2 | 1.78 |
| 128 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.78 |
| 129 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.78 |
| 130 | Myasthenic syndrome, congenital, 1b, fast-channel | Enrichment | CHRNA1 | 1.78 |
| 131 | Barrett esophagus | Enrichment | ERBB2 | 1.78 |
| 132 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.78 |
| 133 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 1.78 |
| 134 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.78 |
| 135 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.78 |
| 136 | Pilocytic astrocytoma | Enrichment | KRAS | 1.78 |
| 137 | Epidermolytic nevus | Enrichment | HRAS | 1.78 |
| 138 | Autosomal dominant robinow syndrome | Enrichment | DVL1 | 1.78 |
| 139 | Knobloch syndrome | Enrichment | PAK2 | 1.78 |
| 140 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.78 |
| 141 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.78 |
| 142 | Visceral myopathy 1 | Enrichment | ACTG2 | 1.69 |
| 143 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.69 |
| 144 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1 | 1.69 |
| 145 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.69 |
| 146 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | PAK6 | 1.69 |
| 147 | Myasthenic syndrome, congenital, 8 | Enrichment | AGRN | 1.69 |
| 148 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1 | 1.69 |
| 149 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | LAMA2 | 1.69 |
| 150 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.69 |
| 151 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.69 |
| 152 | Cowden syndrome 1 | Enrichment | EGFR | 1.61 |
| 153 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.61 |
| 154 | Autosomal recessive robinow syndrome | Enrichment | DVL1 | 1.61 |
| 155 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 1.61 |
| 156 | Breast adenocarcinoma | Enrichment | KRAS | 1.61 |
| 157 | Typical nemaline myopathy | Enrichment | ACTA1 | 1.61 |
| 158 | Myelofibrosis | Enrichment | SRC | 1.54 |
| 159 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.54 |
| 160 | Myasthenic syndrome, congenital, 1a, slow-channel | Enrichment | CHRNA1 | 1.54 |
| 161 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS | 1.54 |
| 162 | Gallbladder cancer | Enrichment | KRAS | 1.54 |
| 163 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.54 |
| 164 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.54 |
| 165 | Glioma susceptibility 1 | Enrichment | ERBB2 | 1.49 |
| 166 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.49 |
| 167 | Congenital muscular dystrophy | Enrichment | LAMA2 | 1.49 |
| 168 | Mosaic variegated aneuploidy syndrome | Enrichment | PAK6 | 1.49 |
| 169 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.44 |
| 170 | Arteriovenous malformation | Enrichment | HRAS | 1.44 |
| 171 | Hydrops fetalis | Enrichment | RAPSN | 1.44 |
| 172 | Breast cancer | Enrichment | JUN, KRAS | 1.42 |
| 173 | Cat eye syndrome | Enrichment | ACTG1 | 1.39 |
| 174 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS | 1.39 |
| 175 | Nemaline myopathy | Enrichment | ACTA1 | 1.39 |
| 176 | Dilated cardiomyopathy | Enrichment | ACTA1, LAMA2 | 1.37 |
| 177 | Specific learning disability | Enrichment | MAPK1 | 1.35 |
| 178 | Presynaptic congenital myasthenic syndromes | Enrichment | AGRN | 1.35 |
| 179 | Neural tube defects | Enrichment | ITGB1 | 1.28 |
| 180 | Protein-deficiency anemia | Enrichment | NRAS | 1.28 |
| 181 | Nk-cell enteropathy | Enrichment | ERBB4 | 1.28 |
| 182 | Osteoporosis | Enrichment | SRC | 1.25 |
| 183 | Walker-warburg syndrome | Enrichment | DAG1 | 1.25 |
| 184 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.22 |
| 185 | Lynch syndrome | Enrichment | KRAS | 1.22 |
| 186 | Rhabdomyosarcoma | Enrichment | HRAS | 1.19 |
| 187 | Gliosarcoma | Enrichment | EGFR | 1.19 |
| 188 | Giant cell glioblastoma | Enrichment | EGFR | 1.17 |
| 189 | Heart, malformation of | Enrichment | MAPK1 | 1.14 |
| 190 | Neuromuscular disease | Enrichment | ACTA1 | 1.14 |
| 191 | Lissencephaly | Enrichment | ACTG1 | 1.08 |
| 192 | Complex neurodevelopmental disorder | Enrichment | PAK3, RAC3 | 1.03 |
| 193 | Pancreatic cancer | Enrichment | KRAS | 1.01 |
| 194 | Severe covid-19 | Enrichment | ITGAV | 0.95 |
| 195 | Connective tissue disease | Enrichment | ACTA2 | 0.91 |
| 196 | Cakut | Enrichment | ACTG1 | 0.88 |
| 197 | Non-syndromic x-linked intellectual disability | Enrichment | ARHGEF6 | 0.86 |
| 198 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.86 |
| 199 | Systemic lupus erythematosus | Enrichment | ITGAM | 0.83 |
| 200 | Charcot-marie-tooth disease | Enrichment | LAMA2 | 0.81 |
| 201 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.80 |
| 202 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2 | 0.78 |
| 203 | Hereditary breast carcinoma | Enrichment | KRAS | 0.78 |
| 204 | Thrombocytopenia | Enrichment | SRC | 0.74 |
| 205 | Autosomal dominant non-syndromic intellectual disability | Enrichment | ERBB4 | 0.73 |
| 206 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.71 |
| 207 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.69 |
| 208 | Myeloma, multiple | Enrichment | KRAS | 0.68 |
| 209 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4 | 0.67 |
| 210 | Autism | Enrichment | CHRNA1 | 0.59 |
| 211 | Rare genetic deafness | Enrichment | ACTG1 | 0.55 |
| 212 | Inherited cancer-predisposing syndrome | Enrichment | EGFR | 0.37 |