| 1 | Noonan syndrome 1 | Enrichment | BRAF, MAP2K1, RAF1, RRAS, SOS1 | 7.58 |
| 2 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, MAP2K1, RAF1, SOS1 | 6.53 |
| 3 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA, RASA1 | 5.69 |
| 4 | Rasopathy | Enrichment | BRAF, MAP2K1, RAF1, SOS1 | 5.50 |
| 5 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA, RASA1 | 5.31 |
| 6 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA, RASA1 | 5.15 |
| 7 | Lung non-small cell carcinoma | Enrichment | BRAF, MAP2K1, PIK3CA | 5.02 |
| 8 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 4.81 |
| 9 | Colorectal cancer | Enrichment | BRAF, CCND1, PIK3CA, PIK3R1, SRC | 4.62 |
| 10 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 4.33 |
| 11 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.33 |
| 12 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, MAP2K1 | 4.03 |
| 13 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, MAP2K1 | 4.03 |
| 14 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 4.03 |
| 15 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 3.81 |
| 16 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 3.64 |
| 17 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.64 |
| 18 | Dilated cardiomyopathy | Enrichment | ACTA1, BRAF, RAF1, VCL | 3.55 |
| 19 | Noonan syndrome 3 | Enrichment | RAF1, SOS1 | 3.49 |
| 20 | Gallbladder cancer | Enrichment | BRAF, PIK3CA | 3.49 |
| 21 | Pilomyxoid astrocytoma | Enrichment | BRAF, RAF1 | 3.49 |
| 22 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, RAF1 | 3.37 |
| 23 | Juvenile myelomonocytic leukemia | Enrichment | ARHGAP26, RRAS | 3.00 |
| 24 | Lip and oral cavity carcinoma | Enrichment | BRAF, PIK3CA | 3.00 |
| 25 | Macrodactyly | Enrichment | PIK3CA | 2.40 |
| 26 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.40 |
| 27 | Noonan syndrome 5 | Enrichment | RAF1 | 2.40 |
| 28 | Noonan syndrome 4 | Enrichment | SOS1 | 2.40 |
| 29 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.40 |
| 30 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.40 |
| 31 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.40 |
| 32 | Noonan syndrome 7 | Enrichment | BRAF | 2.40 |
| 33 | Leopard syndrome 3 | Enrichment | BRAF | 2.40 |
| 34 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.40 |
| 35 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.40 |
| 36 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.40 |
| 37 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.40 |
| 38 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.40 |
| 39 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.40 |
| 40 | Short syndrome | Enrichment | PIK3R1 | 2.40 |
| 41 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.40 |
| 42 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.40 |
| 43 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.40 |
| 44 | Lymphangioma | Enrichment | BRAF | 2.40 |
| 45 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.40 |
| 46 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.40 |
| 47 | Phace association | Enrichment | BRAF | 2.40 |
| 48 | Melorheostosis | Enrichment | MAP2K1 | 2.40 |
| 49 | Leopard syndrome 2 | Enrichment | RAF1 | 2.40 |
| 50 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.40 |
| 51 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.40 |
| 52 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.40 |
| 53 | Bleeding disorder, platelet-type, 15 | Enrichment | ACTN1 | 2.40 |
| 54 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.40 |
| 55 | Immunodeficiency 22 | Enrichment | LCK | 2.40 |
| 56 | Thrombocytopenia 6 | Enrichment | SRC | 2.40 |
| 57 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.40 |
| 58 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.40 |
| 59 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.40 |
| 60 | Trigonitis | Enrichment | RAF1 | 2.40 |
| 61 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.40 |
| 62 | Hypospadias | Enrichment | PIK3CA | 2.40 |
| 63 | Rare venous malformation | Enrichment | PIK3CA | 2.40 |
| 64 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.40 |
| 65 | Gorham's disease | Enrichment | RASA1 | 2.40 |
| 66 | Zebra body myopathy | Enrichment | ACTA1 | 2.40 |
| 67 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.40 |
| 68 | Capillary leak syndrome | Enrichment | TLN1 | 2.40 |
| 69 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.40 |
| 70 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.40 |
| 71 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.40 |
| 72 | Ganglioglioma | Enrichment | BRAF | 2.40 |
| 73 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.40 |
| 74 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.40 |
| 75 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.40 |
| 76 | Phace syndrome | Enrichment | BRAF | 2.40 |
| 77 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.40 |
| 78 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.40 |
| 79 | Classic hairy cell leukemia | Enrichment | BRAF | 2.40 |
| 80 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.40 |
| 81 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.40 |
| 82 | Macrodactyly of toe | Enrichment | PIK3CA | 2.40 |
| 83 | Temporomandibular joint anomaly | Enrichment | DOCK1 | 2.40 |
| 84 | Lung cancer | Enrichment | BRAF, PIK3CA | 2.15 |
| 85 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.10 |
| 86 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.10 |
| 87 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.10 |
| 88 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.10 |
| 89 | Neurodevelopmental disorder with or without variable brain abnormalities | Enrichment | MAPK8IP3 | 2.10 |
| 90 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.10 |
| 91 | Jacobsen syndrome | Enrichment | ETS1 | 1.92 |
| 92 | Ataxia-telangiectasia | Enrichment | BRAF | 1.92 |
| 93 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.92 |
| 94 | Nuchal bleb, familial | Enrichment | SOS1 | 1.92 |
| 95 | Aortic aneurysm, familial thoracic 7 | Enrichment | MYLK | 1.92 |
| 96 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.92 |
| 97 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.92 |
| 98 | Wieacker-wolff syndrome | Enrichment | RASA1 | 1.92 |
| 99 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.92 |
| 100 | Keratoacanthoma | Enrichment | PIK3CA | 1.92 |
| 101 | Thrombocytopenia | Enrichment | ACTN1, SRC | 1.81 |
| 102 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.80 |
| 103 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | MYLK | 1.80 |
| 104 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.80 |
| 105 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.80 |
| 106 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.80 |
| 107 | Mantle cell lymphoma | Enrichment | CCND1 | 1.80 |
| 108 | Cerebrovascular disease | Enrichment | PIK3CA | 1.80 |
| 109 | Craniopharyngioma | Enrichment | BRAF | 1.80 |
| 110 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.80 |
| 111 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.80 |
| 112 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.80 |
| 113 | Gingival fibromatosis | Enrichment | SOS1 | 1.80 |
| 114 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1, VCL | 1.73 |
| 115 | Visceral myopathy 1 | Enrichment | MYLK | 1.70 |
| 116 | Martsolf syndrome 1 | Enrichment | ARHGAP35 | 1.70 |
| 117 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.70 |
| 118 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.70 |
| 119 | Hemimegalencephaly | Enrichment | PIK3CA | 1.70 |
| 120 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.70 |
| 121 | Myeloma, multiple | Enrichment | BRAF, CCND1 | 1.68 |
| 122 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.63 |
| 123 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.63 |
| 124 | Wilms tumor 5 | Enrichment | BRAF | 1.63 |
| 125 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.63 |
| 126 | Anterior segment dysgenesis 5 | Enrichment | ARHGAP35 | 1.63 |
| 127 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.63 |
| 128 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.63 |
| 129 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.63 |
| 130 | Typical nemaline myopathy | Enrichment | ACTA1 | 1.63 |
| 131 | Nevus, epidermal | Enrichment | PIK3CA | 1.56 |
| 132 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF | 1.56 |
| 133 | Myelofibrosis | Enrichment | SRC | 1.56 |
| 134 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.56 |
| 135 | Follicular thyroid carcinoma | Enrichment | BRAF | 1.56 |
| 136 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.56 |
| 137 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.56 |
| 138 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.50 |
| 139 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.45 |
| 140 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.45 |
| 141 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.45 |
| 142 | Primary hyperaldosteronism | Enrichment | BRAF | 1.45 |
| 143 | Ventricular septal defect | Enrichment | BRAF | 1.45 |
| 144 | Cowden syndrome | Enrichment | PIK3CA | 1.45 |
| 145 | Familial thoracic aortic aneurysm and dissection | Enrichment | MYLK | 1.45 |
| 146 | Breast cancer | Enrichment | JUN, PIK3CA | 1.45 |
| 147 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.41 |
| 148 | Peters-plus syndrome | Enrichment | ARHGAP35 | 1.41 |
| 149 | Nemaline myopathy | Enrichment | ACTA1 | 1.41 |
| 150 | Melanoma | Enrichment | BRAF | 1.41 |
| 151 | Autosomal dominant macrothrombocytopenia | Enrichment | ACTN1 | 1.41 |
| 152 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.41 |
| 153 | Specific learning disability | Enrichment | MAPK1 | 1.37 |
| 154 | Meningioma | Enrichment | PIK3CA | 1.33 |
| 155 | Aortic valve disease 1 | Enrichment | SOS1 | 1.30 |
| 156 | Neural tube defects | Enrichment | ITGB1 | 1.30 |
| 157 | Osteoporosis | Enrichment | SRC | 1.26 |
| 158 | Aortic aneurysm, familial thoracic 1 | Enrichment | MYLK | 1.26 |
| 159 | Lung cancer susceptibility 3 | Enrichment | BRAF | 1.26 |
| 160 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.26 |
| 161 | Wilms tumor 1 | Enrichment | BRAF | 1.24 |
| 162 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.24 |
| 163 | Lynch syndrome | Enrichment | PIK3CA | 1.24 |
| 164 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.18 |
| 165 | Dandy-walker syndrome | Enrichment | BRAF | 1.18 |
| 166 | Heart, malformation of | Enrichment | MAPK1 | 1.16 |
| 167 | Neuromuscular disease | Enrichment | ACTA1 | 1.16 |
| 168 | Arteriovenous malformations of the brain | Enrichment | BRAF | 1.14 |
| 169 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 1.14 |
| 170 | Congenital myopathy | Enrichment | ACTA1 | 1.14 |
| 171 | Endometrial cancer | Enrichment | PIK3CA | 1.09 |
| 172 | Centronuclear myopathy | Enrichment | ACTA1 | 1.09 |
| 173 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.08 |
| 174 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.04 |
| 175 | Hydrops fetalis, nonimmune | Enrichment | ACTA1 | 1.01 |
| 176 | Bladder cancer | Enrichment | PIK3CA | 0.96 |
| 177 | Prostate cancer | Enrichment | PIK3CA | 0.96 |
| 178 | Severe covid-19 | Enrichment | ITGAV | 0.96 |
| 179 | Differentiated thyroid carcinoma | Enrichment | BRAF | 0.96 |
| 180 | Non-immune hydrops fetalis | Enrichment | ACTA1 | 0.93 |
| 181 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.91 |
| 182 | Severe combined immunodeficiency | Enrichment | LCK | 0.91 |
| 183 | Left ventricular noncompaction | Enrichment | RAF1 | 0.88 |
| 184 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1 | 0.86 |
| 185 | Systemic lupus erythematosus | Enrichment | ETS1 | 0.84 |
| 186 | Leukemia, acute myeloid | Enrichment | SH3GL1 | 0.83 |
| 187 | Myopathy | Enrichment | ACTA1 | 0.83 |
| 188 | Distal arthrogryposis | Enrichment | ACTA1 | 0.81 |
| 189 | Gastric cancer | Enrichment | PIK3CA | 0.80 |
| 190 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | MYLK | 0.79 |
| 191 | Hereditary breast carcinoma | Enrichment | PIK3CA | 0.79 |
| 192 | Hypertelorism | Enrichment | PIK3CA | 0.73 |
| 193 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1 | 0.70 |
| 194 | Ovarian cancer | Enrichment | PIK3CA | 0.48 |
| 195 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.45 |
| 196 | Microcephaly | Enrichment | MAPK1 | 0.41 |
| 197 | Complex neurodevelopmental disorder | Enrichment | MAPK8IP3 | 0.41 |