| 1 | Lung non-small cell carcinoma | Enrichment | BRAF, MAP2K1, PIK3CA | 6.16 |
| 2 | Breast cancer | Enrichment | AKT1, ESR1, JUN, PIK3CA | 5.15 |
| 3 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 5.08 |
| 4 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, MAP2K1 | 4.78 |
| 5 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, MAP2K1 | 4.78 |
| 6 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 4.39 |
| 7 | Hereditary breast carcinoma | Enrichment | AKT1, ESR1, PIK3CA | 4.27 |
| 8 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 4.24 |
| 9 | Gallbladder cancer | Enrichment | BRAF, PIK3CA | 4.24 |
| 10 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA | 4.01 |
| 11 | Primary hyperaldosteronism | Enrichment | BRAF, GNAS | 4.01 |
| 12 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 4.01 |
| 13 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA | 3.91 |
| 14 | Meningioma | Enrichment | AKT1, PIK3CA | 3.75 |
| 15 | Lip and oral cavity carcinoma | Enrichment | BRAF, PIK3CA | 3.75 |
| 16 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, MAP2K1 | 3.55 |
| 17 | Colorectal cancer | Enrichment | AKT1, BRAF, PIK3CA | 3.39 |
| 18 | Noonan syndrome 1 | Enrichment | BRAF, MAP2K1 | 3.17 |
| 19 | Rasopathy | Enrichment | BRAF, MAP2K1 | 3.06 |
| 20 | Lung cancer | Enrichment | BRAF, PIK3CA | 2.88 |
| 21 | Macrodactyly | Enrichment | PIK3CA | 2.77 |
| 22 | Proteus syndrome | Enrichment | AKT1 | 2.77 |
| 23 | Incontinentia pigmenti | Enrichment | IKBKG | 2.77 |
| 24 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.77 |
| 25 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.77 |
| 26 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.77 |
| 27 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.77 |
| 28 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.77 |
| 29 | Noonan syndrome 7 | Enrichment | BRAF | 2.77 |
| 30 | Leopard syndrome 3 | Enrichment | BRAF | 2.77 |
| 31 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.77 |
| 32 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.77 |
| 33 | Fetal encasement syndrome | Enrichment | CHUK | 2.77 |
| 34 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.77 |
| 35 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.77 |
| 36 | Immunodeficiency 15b | Enrichment | IKBKB | 2.77 |
| 37 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.77 |
| 38 | Immunodeficiency 15a | Enrichment | IKBKB | 2.77 |
| 39 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.77 |
| 40 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.77 |
| 41 | Lymphangioma | Enrichment | BRAF | 2.77 |
| 42 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.77 |
| 43 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.77 |
| 44 | Phace association | Enrichment | BRAF | 2.77 |
| 45 | Melorheostosis | Enrichment | MAP2K1 | 2.77 |
| 46 | Cowden syndrome 6 | Enrichment | AKT1 | 2.77 |
| 47 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.77 |
| 48 | Disorders of gnas inactivation | Enrichment | GNAS | 2.77 |
| 49 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.77 |
| 50 | Intellectual developmental disorder, autosomal dominant 42 | Enrichment | GNB1 | 2.77 |
| 51 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.77 |
| 52 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.77 |
| 53 | Hypospadias | Enrichment | PIK3CA | 2.77 |
| 54 | Rare venous malformation | Enrichment | PIK3CA | 2.77 |
| 55 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.77 |
| 56 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.77 |
| 57 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.77 |
| 58 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.77 |
| 59 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.77 |
| 60 | Ganglioglioma | Enrichment | BRAF | 2.77 |
| 61 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.77 |
| 62 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.77 |
| 63 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.77 |
| 64 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.77 |
| 65 | Phace syndrome | Enrichment | BRAF | 2.77 |
| 66 | Classic hairy cell leukemia | Enrichment | BRAF | 2.77 |
| 67 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.77 |
| 68 | Mazabraud syndrome | Enrichment | GNAS | 2.77 |
| 69 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.77 |
| 70 | Macrodactyly of toe | Enrichment | PIK3CA | 2.77 |
| 71 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 2.47 |
| 72 | Immunodeficiency 33 | Enrichment | IKBKG | 2.47 |
| 73 | Pulmonic stenosis | Enrichment | BRAF | 2.47 |
| 74 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.47 |
| 75 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS | 2.47 |
| 76 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 2.47 |
| 77 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.47 |
| 78 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.47 |
| 79 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.47 |
| 80 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.47 |
| 81 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.47 |
| 82 | Pseudohypoparathyroidism | Enrichment | GNAS | 2.47 |
| 83 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.47 |
| 84 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG | 2.47 |
| 85 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.47 |
| 86 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 2.47 |
| 87 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.47 |
| 88 | Cerebral visual impairment | Enrichment | GNB1 | 2.47 |
| 89 | Mccune-albright syndrome | Enrichment | GNAS | 2.29 |
| 90 | Ataxia-telangiectasia | Enrichment | BRAF | 2.29 |
| 91 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.29 |
| 92 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 2.29 |
| 93 | Estrogen resistance | Enrichment | ESR1 | 2.29 |
| 94 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.29 |
| 95 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 2.29 |
| 96 | Migraine without aura | Enrichment | ESR1 | 2.29 |
| 97 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 2.29 |
| 98 | Melanoma of soft tissue | Enrichment | CREB1 | 2.29 |
| 99 | Keratoacanthoma | Enrichment | PIK3CA | 2.29 |
| 100 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 2.17 |
| 101 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 2.17 |
| 102 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.17 |
| 103 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.17 |
| 104 | Congenital generalized lipodystrophy | Enrichment | FOS | 2.17 |
| 105 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 2.17 |
| 106 | Cerebrovascular disease | Enrichment | PIK3CA | 2.17 |
| 107 | Craniopharyngioma | Enrichment | BRAF | 2.17 |
| 108 | Noonan syndrome with multiple lentigines | Enrichment | BRAF | 2.17 |
| 109 | Newborn respiratory distress syndrome | Enrichment | BRAF | 2.17 |
| 110 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.17 |
| 111 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.07 |
| 112 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 2.07 |
| 113 | Follicular lymphoma | Enrichment | BCL2 | 2.07 |
| 114 | Histiocytoid hemangioma | Enrichment | FOS | 2.07 |
| 115 | Hemimegalencephaly | Enrichment | PIK3CA | 2.07 |
| 116 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.99 |
| 117 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.99 |
| 118 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.99 |
| 119 | Wilms tumor 5 | Enrichment | BRAF | 1.99 |
| 120 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.99 |
| 121 | Nevus, epidermal | Enrichment | PIK3CA | 1.93 |
| 122 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF | 1.93 |
| 123 | Brachydactyly | Enrichment | GNAS | 1.93 |
| 124 | Pilomyxoid astrocytoma | Enrichment | BRAF | 1.93 |
| 125 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.93 |
| 126 | Follicular thyroid carcinoma | Enrichment | BRAF | 1.93 |
| 127 | Ovarian cancer | Enrichment | AKT1, PIK3CA | 1.90 |
| 128 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF | 1.87 |
| 129 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.87 |
| 130 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.87 |
| 131 | Hypothyroidism | Enrichment | GNB1 | 1.87 |
| 132 | Autism spectrum disorder | Enrichment | GNB1, MAP2K1 | 1.84 |
| 133 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.82 |
| 134 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.82 |
| 135 | Coronary heart disease 5 | Enrichment | IKBKG | 1.82 |
| 136 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.82 |
| 137 | Ventricular septal defect | Enrichment | BRAF | 1.82 |
| 138 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.77 |
| 139 | Melanoma | Enrichment | BRAF | 1.77 |
| 140 | Microcephaly | Enrichment | GNB1, MAPK1 | 1.74 |
| 141 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.73 |
| 142 | Leukemia, acute lymphoblastic | Enrichment | GNB1 | 1.73 |
| 143 | Myelodysplastic syndrome | Enrichment | GNB1 | 1.73 |
| 144 | Specific learning disability | Enrichment | MAPK1 | 1.73 |
| 145 | Lung cancer susceptibility 3 | Enrichment | BRAF | 1.63 |
| 146 | Wilms tumor 1 | Enrichment | BRAF | 1.60 |
| 147 | Lynch syndrome | Enrichment | PIK3CA | 1.60 |
| 148 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.55 |
| 149 | Cleft palate, isolated | Enrichment | GNB1 | 1.55 |
| 150 | Dandy-walker syndrome | Enrichment | BRAF | 1.55 |
| 151 | Heart, malformation of | Enrichment | MAPK1 | 1.52 |
| 152 | Arteriovenous malformations of the brain | Enrichment | BRAF | 1.50 |
| 153 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 1.50 |
| 154 | Endometrial cancer | Enrichment | PIK3CA | 1.46 |
| 155 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.44 |
| 156 | Myocardial infarction | Enrichment | ESR1 | 1.44 |
| 157 | Malaria | Enrichment | IKBKG | 1.42 |
| 158 | Strabismus | Enrichment | GNB1 | 1.35 |
| 159 | Bladder cancer | Enrichment | PIK3CA | 1.32 |
| 160 | Prostate cancer | Enrichment | PIK3CA | 1.32 |
| 161 | Differentiated thyroid carcinoma | Enrichment | BRAF | 1.32 |
| 162 | Severe combined immunodeficiency | Enrichment | IKBKB | 1.26 |
| 163 | Dystonia | Enrichment | GNB1 | 1.24 |
| 164 | Cerebral palsy | Enrichment | GNB1 | 1.19 |
| 165 | Gastric cancer | Enrichment | PIK3CA | 1.15 |
| 166 | Body mass index quantitative trait locus 11 | Enrichment | GNAS | 1.09 |
| 167 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GNB1 | 1.09 |
| 168 | Hypertelorism | Enrichment | PIK3CA | 1.07 |
| 169 | Myeloma, multiple | Enrichment | BRAF | 1.04 |
| 170 | Dilated cardiomyopathy | Enrichment | BRAF | 0.90 |