| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 10.75 |
| 2 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 10.38 |
| 3 | Rasopathy | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 10.19 |
| 4 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, MAP2K1, NRAS, PIK3CA | 10.15 |
| 5 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 8.69 |
| 6 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.06 |
| 7 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS, MAP2K1, MAP2K2 | 7.06 |
| 8 | Cardiofaciocutaneous syndrome | Enrichment | KRAS, MAP2K1, MAP2K2 | 7.06 |
| 9 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA | 6.36 |
| 10 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1, PIK3CA | 6.12 |
| 11 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1 | 6.12 |
| 12 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS, RAF1 | 5.91 |
| 13 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA | 5.74 |
| 14 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA | 5.58 |
| 15 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.09 |
| 16 | Langerhans cell histiocytosis | Enrichment | MAP2K1, NRAS | 4.62 |
| 17 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.62 |
| 18 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.32 |
| 19 | Genetic central precocious puberty in male | Enrichment | KISS1, KISS1R | 4.32 |
| 20 | Bladder cancer | Enrichment | HRAS, KRAS, PIK3CA | 4.12 |
| 21 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 4.12 |
| 22 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 3.92 |
| 23 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 3.78 |
| 24 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.78 |
| 25 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 3.78 |
| 26 | Pilomyxoid astrocytoma | Enrichment | KRAS, RAF1 | 3.78 |
| 27 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 3.78 |
| 28 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PIK3CA | 3.57 |
| 29 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.54 |
| 30 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 3.28 |
| 31 | Meningioma | Enrichment | AKT1, PIK3CA | 3.28 |
| 32 | 46 xx gonadal dysgenesis | Enrichment | BMP15, FSHR | 3.28 |
| 33 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 3.28 |
| 34 | Lipoid congenital adrenal hyperplasia | Enrichment | CYP11A1, STAR | 3.14 |
| 35 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 3.08 |
| 36 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | KISS1, KISS1R | 2.92 |
| 37 | Breast cancer | Enrichment | AKT1, KRAS, PIK3CA | 2.89 |
| 38 | Colorectal cancer | Enrichment | AKT1, NRAS, PIK3CA | 2.71 |
| 39 | Precocious puberty, central, 1 | Enrichment | KISS1R | 2.54 |
| 40 | Macrodactyly | Enrichment | PIK3CA | 2.54 |
| 41 | Proteus syndrome | Enrichment | AKT1 | 2.54 |
| 42 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.54 |
| 43 | Oculoectodermal syndrome | Enrichment | KRAS | 2.54 |
| 44 | Noonan syndrome 5 | Enrichment | RAF1 | 2.54 |
| 45 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.54 |
| 46 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.54 |
| 47 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.54 |
| 48 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.54 |
| 49 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.54 |
| 50 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.54 |
| 51 | Hypogonadotropic hypogonadism 8 with or without anosmia | Enrichment | KISS1R | 2.54 |
| 52 | Noonan syndrome 6 | Enrichment | NRAS | 2.54 |
| 53 | Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete | Enrichment | CYP11A1 | 2.54 |
| 54 | Ovarian dysgenesis 1 | Enrichment | FSHR | 2.54 |
| 55 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.54 |
| 56 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.54 |
| 57 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.54 |
| 58 | Spondylometaphyseal dysplasia with corneal dystrophy | Enrichment | PLCB3 | 2.54 |
| 59 | Twinning, dizygotic | Enrichment | FSHR | 2.54 |
| 60 | Ovarian dysgenesis 2 | Enrichment | BMP15 | 2.54 |
| 61 | Auriculocondylar syndrome 2a | Enrichment | PLCB4 | 2.54 |
| 62 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.54 |
| 63 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.54 |
| 64 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.54 |
| 65 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.54 |
| 66 | Ovarian hyperstimulation syndrome | Enrichment | FSHR | 2.54 |
| 67 | Melorheostosis | Enrichment | MAP2K1 | 2.54 |
| 68 | Leopard syndrome 2 | Enrichment | RAF1 | 2.54 |
| 69 | Hypogonadotropic hypogonadism 13 with or without anosmia | Enrichment | KISS1 | 2.54 |
| 70 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.54 |
| 71 | Cowden syndrome 6 | Enrichment | AKT1 | 2.54 |
| 72 | Amenorrhea | Enrichment | FSHR | 2.54 |
| 73 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.54 |
| 74 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.54 |
| 75 | Premature ovarian failure 14 | Enrichment | GDF9 | 2.54 |
| 76 | Trigonitis | Enrichment | RAF1 | 2.54 |
| 77 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.54 |
| 78 | Auriculocondylar syndrome 2b | Enrichment | PLCB4 | 2.54 |
| 79 | Immature teratoma of ovary | Enrichment | BMP15 | 2.54 |
| 80 | Hypospadias | Enrichment | PIK3CA | 2.54 |
| 81 | Inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency | Enrichment | CYP11A1 | 2.54 |
| 82 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.54 |
| 83 | Rare venous malformation | Enrichment | PIK3CA | 2.54 |
| 84 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.54 |
| 85 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.54 |
| 86 | Non-classic congenital lipoid adrenal hyperplasia due to star deficency | Enrichment | STAR | 2.54 |
| 87 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.54 |
| 88 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.54 |
| 89 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.54 |
| 90 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.54 |
| 91 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.54 |
| 92 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.54 |
| 93 | Macrodactyly of toe | Enrichment | PIK3CA | 2.54 |
| 94 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.54 |
| 95 | Classic congenital lipoid adrenal hyperplasia due to star deficency | Enrichment | STAR | 2.54 |
| 96 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.54 |
| 97 | Ovarian cancer | Enrichment | AKT1, KRAS, PIK3CA | 2.52 |
| 98 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.45 |
| 99 | Lung cancer | Enrichment | KRAS, PIK3CA | 2.42 |
| 100 | Costello syndrome | Enrichment | HRAS | 2.24 |
| 101 | Toe syndactyly, telecanthus, and anogenital and renal malformations | Enrichment | STAR | 2.24 |
| 102 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.24 |
| 103 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.24 |
| 104 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.24 |
| 105 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.24 |
| 106 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.24 |
| 107 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.24 |
| 108 | Central precocious puberty | Enrichment | KISS1R | 2.24 |
| 109 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 2.24 |
| 110 | Ocular melanoma | Enrichment | PLCB4 | 2.24 |
| 111 | Immune system disease | Enrichment | PIK3CD | 2.24 |
| 112 | Metaphyseal anadysplasia | Enrichment | MMP9 | 2.24 |
| 113 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.24 |
| 114 | Tafro syndrome | Enrichment | MAP2K2 | 2.24 |
| 115 | Wooly hair nevus | Enrichment | HRAS | 2.24 |
| 116 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 2.23 |
| 117 | Gastric cancer | Enrichment | KRAS, PIK3CA | 2.17 |
| 118 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.07 |
| 119 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 2.07 |
| 120 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD | 2.07 |
| 121 | Precocious puberty, central, 2 | Enrichment | KISS1R | 2.07 |
| 122 | Immunodeficiency 14 | Enrichment | PIK3CD | 2.07 |
| 123 | Gonadal dysgenesis | Enrichment | FSHR | 2.07 |
| 124 | Spermatocytoma | Enrichment | HRAS | 2.07 |
| 125 | Keratoacanthoma | Enrichment | PIK3CA | 2.07 |
| 126 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.94 |
| 127 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.94 |
| 128 | Auriculocondylar syndrome 1 | Enrichment | PLCB4 | 1.94 |
| 129 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.94 |
| 130 | Persistent mullerian duct syndrome, types i and ii | Enrichment | AMH | 1.94 |
| 131 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.94 |
| 132 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.94 |
| 133 | Hereditary ataxia | Enrichment | PRKCG | 1.94 |
| 134 | Cerebrovascular disease | Enrichment | PIK3CA | 1.94 |
| 135 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.94 |
| 136 | Pilocytic astrocytoma | Enrichment | KRAS | 1.94 |
| 137 | Epidermolytic nevus | Enrichment | HRAS | 1.94 |
| 138 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.94 |
| 139 | Persistent mullerian duct syndrome | Enrichment | AMH | 1.94 |
| 140 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.84 |
| 141 | Hemimegalencephaly | Enrichment | PIK3CA | 1.84 |
| 142 | Familial glucocorticoid deficiency | Enrichment | STAR | 1.84 |
| 143 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.77 |
| 144 | Melanoma, uveal | Enrichment | PLCB4 | 1.77 |
| 145 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.77 |
| 146 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | Enrichment | CYP11A1 | 1.77 |
| 147 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.77 |
| 148 | 21-hydroxylase-deficient congenital adrenal hyperplasia | Enrichment | CYP11A1 | 1.77 |
| 149 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.70 |
| 150 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.59 |
| 151 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.59 |
| 152 | Hypogonadotropic hypogonadism | Enrichment | KISS1R | 1.59 |
| 153 | Stroke, ischemic | Enrichment | PRKCH | 1.55 |
| 154 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.55 |
| 155 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD | 1.55 |
| 156 | Specific learning disability | Enrichment | MAPK1 | 1.51 |
| 157 | Protein-deficiency anemia | Enrichment | NRAS | 1.43 |
| 158 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.43 |
| 159 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | KISS1R | 1.40 |
| 160 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.40 |
| 161 | Pituitary stalk interruption syndrome | Enrichment | KISS1R | 1.40 |
| 162 | Perrault syndrome 1 | Enrichment | FSHR | 1.35 |
| 163 | Rhabdomyosarcoma | Enrichment | HRAS | 1.35 |
| 164 | Heart, malformation of | Enrichment | MAPK1 | 1.30 |
| 165 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.27 |
| 166 | Endometrial cancer | Enrichment | PIK3CA | 1.23 |
| 167 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.21 |
| 168 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.18 |
| 169 | Pancreatic cancer | Enrichment | KRAS | 1.16 |
| 170 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.14 |
| 171 | Prostate cancer | Enrichment | PIK3CA | 1.10 |
| 172 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.04 |
| 173 | Left ventricular noncompaction | Enrichment | RAF1 | 1.02 |
| 174 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.94 |
| 175 | Hypertelorism | Enrichment | PIK3CA | 0.86 |
| 176 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.85 |
| 177 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.83 |
| 178 | Myeloma, multiple | Enrichment | KRAS | 0.83 |
| 179 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.69 |
| 180 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.57 |
| 181 | Microcephaly | Enrichment | MAPK1 | 0.52 |