| 1 | Rasopathy | Enrichment | CBL, HRAS, KRAS, NRAS, PTPN11, SOS1 | 11.23 |
| 2 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, HRAS, KRAS, NRAS, PTPN11, SOS1 | 10.97 |
| 3 | Noonan syndrome 1 | Enrichment | CBL, HRAS, KRAS, NRAS, PTPN11, SOS1 | 10.45 |
| 4 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 10.18 |
| 5 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, PTPN11, SOS1 | 10.18 |
| 6 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 9.36 |
| 7 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 8.27 |
| 8 | Juvenile myelomonocytic leukemia | Enrichment | CBL, KRAS, NRAS, PTPN11 | 8.15 |
| 9 | Bladder cancer | Enrichment | CDKN1A, HRAS, KRAS, PIK3CA | 7.52 |
| 10 | Differentiated thyroid carcinoma | Enrichment | ETV6, HRAS, KRAS, NRAS | 7.19 |
| 11 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA | 6.39 |
| 12 | Leukemia, acute myeloid | Enrichment | ETV6, FLT3, KRAS, NRAS | 5.90 |
| 13 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.88 |
| 14 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 5.41 |
| 15 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 5.41 |
| 16 | Colorectal cancer | Enrichment | AKT1, NRAS, PIK3CA, PIK3R1, PTPRJ | 5.39 |
| 17 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS, PTPN11 | 5.23 |
| 18 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 5.11 |
| 19 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 4.71 |
| 20 | Chronic myelomonocytic leukemia | Enrichment | ETV6, FLT3 | 4.61 |
| 21 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 4.61 |
| 22 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 4.56 |
| 23 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 4.56 |
| 24 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.56 |
| 25 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 4.56 |
| 26 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 4.56 |
| 27 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 4.44 |
| 28 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA | 4.34 |
| 29 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 4.33 |
| 30 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 4.23 |
| 31 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA | 4.12 |
| 32 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 4.07 |
| 33 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 3.87 |
| 34 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | FLT3, MYO18A | 3.83 |
| 35 | Ovarian cancer | Enrichment | AKT1, CDKN1B, KRAS, PIK3CA | 3.75 |
| 36 | Leukemia, acute lymphoblastic | Enrichment | ETV6, FLT3 | 3.65 |
| 37 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PIK3CA | 3.61 |
| 38 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.57 |
| 39 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 3.38 |
| 40 | Immunodeficiency 82 with systemic inflammation | Enrichment | SYK | 3.35 |
| 41 | Acute myeloid leukemia with minimal differentiation | Enrichment | FLT3 | 3.35 |
| 42 | Immunodeficiency 22 | Enrichment | LCK | 3.35 |
| 43 | Autoinflammation with pulmonary and cutaneous vasculitis | Enrichment | HCK | 3.35 |
| 44 | Immunodeficiency 125 | Enrichment | FLT3LG | 3.35 |
| 45 | Colitis | Enrichment | SYK | 3.35 |
| 46 | Rhabdomyosarcoma | Enrichment | CBL, HRAS | 3.31 |
| 47 | Meningioma | Enrichment | AKT1, PIK3CA | 3.30 |
| 48 | Myeloma, multiple | Enrichment | FLT3, KRAS, SH2B3 | 3.29 |
| 49 | Metachondromatosis | Enrichment | PTPN11 | 3.29 |
| 50 | Leopard syndrome 1 | Enrichment | PTPN11 | 3.29 |
| 51 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 3.29 |
| 52 | Malignant astrocytoma | Enrichment | PTPN11 | 3.29 |
| 53 | Lung cancer | Enrichment | KRAS, PIK3CA | 3.20 |
| 54 | Acute myeloid leukemia without maturation | Enrichment | FLT3 | 3.05 |
| 55 | Arthritis | Enrichment | SYK | 3.05 |
| 56 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 3.05 |
| 57 | Ovarian germ cell cancer | Enrichment | CBL | 2.99 |
| 58 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.99 |
| 59 | Submucosal cleft palate | Enrichment | UBB | 2.99 |
| 60 | Cleft hard palate | Enrichment | UBB | 2.99 |
| 61 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.99 |
| 62 | Werner syndrome | Enrichment | PTPN11 | 2.99 |
| 63 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.99 |
| 64 | Thrombocytopenia 10 | Enrichment | PTPRJ | 2.96 |
| 65 | Growth retardation-mild developmental delay-chronic hepatitis syndrome | Enrichment | SH2B3 | 2.96 |
| 66 | Gastric cancer | Enrichment | KRAS, PIK3CA | 2.94 |
| 67 | Macrodactyly | Enrichment | PIK3CA | 2.93 |
| 68 | Oculoectodermal syndrome | Enrichment | KRAS | 2.93 |
| 69 | Noonan syndrome 4 | Enrichment | SOS1 | 2.93 |
| 70 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.93 |
| 71 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.93 |
| 72 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.93 |
| 73 | Noonan syndrome 6 | Enrichment | NRAS | 2.93 |
| 74 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.93 |
| 75 | Short syndrome | Enrichment | PIK3R1 | 2.93 |
| 76 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.93 |
| 77 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.93 |
| 78 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.93 |
| 79 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.93 |
| 80 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.93 |
| 81 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.93 |
| 82 | Hypospadias | Enrichment | PIK3CA | 2.93 |
| 83 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.93 |
| 84 | Rare venous malformation | Enrichment | PIK3CA | 2.93 |
| 85 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.93 |
| 86 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.93 |
| 87 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.93 |
| 88 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.93 |
| 89 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.93 |
| 90 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.93 |
| 91 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.93 |
| 92 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.93 |
| 93 | Macrodactyly of toe | Enrichment | PIK3CA | 2.93 |
| 94 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.93 |
| 95 | Breast cancer | Enrichment | AKT1, KRAS, PIK3CA | 2.92 |
| 96 | Mixed phenotype acute leukemia with t | Enrichment | FLT3 | 2.88 |
| 97 | Achondrogenesis, type ia | Enrichment | TRIP11 | 2.85 |
| 98 | Odontochondrodysplasia 1 | Enrichment | TRIP11 | 2.85 |
| 99 | Developmental delay, impaired speech, and behavioral abnormalities | Enrichment | SPTBN1 | 2.85 |
| 100 | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | Enrichment | ZMYM2 | 2.85 |
| 101 | B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) | Enrichment | ETV6 | 2.85 |
| 102 | Albinism, oculocutaneous, type ia | Enrichment | NOX4 | 2.83 |
| 103 | Uvula, bifid | Enrichment | UBB | 2.81 |
| 104 | Cleft soft palate | Enrichment | UBB | 2.81 |
| 105 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.81 |
| 106 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | FLT3 | 2.75 |
| 107 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 2.69 |
| 108 | Acute myeloid leukemia with maturation | Enrichment | FLT3 | 2.66 |
| 109 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | FLT3 | 2.66 |
| 110 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.63 |
| 111 | Costello syndrome | Enrichment | HRAS | 2.63 |
| 112 | Pulmonic stenosis | Enrichment | SOS1 | 2.63 |
| 113 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.63 |
| 114 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.63 |
| 115 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.63 |
| 116 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.63 |
| 117 | Wooly hair nevus | Enrichment | HRAS | 2.63 |
| 118 | Myeloproliferative neoplasm | Enrichment | CBL | 2.59 |
| 119 | Aggressive systemic mastocytosis | Enrichment | CBL | 2.59 |
| 120 | Lymphoma | Enrichment | PTPN11 | 2.59 |
| 121 | Hematologic cancer | Enrichment | ETV6 | 2.55 |
| 122 | Congenital mesoblastic nephroma | Enrichment | ETV6 | 2.55 |
| 123 | Fibrosarcoma | Enrichment | ETV6 | 2.55 |
| 124 | Proteus syndrome | Enrichment | AKT1 | 2.55 |
| 125 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.55 |
| 126 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.55 |
| 127 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.55 |
| 128 | Cowden syndrome 6 | Enrichment | AKT1 | 2.55 |
| 129 | Capillary hemangioma | Enrichment | AKT3 | 2.55 |
| 130 | Silver-russell syndrome due to maternal uniparental disomy of chromosome 7 | Enrichment | GRB10 | 2.55 |
| 131 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.55 |
| 132 | Patent ductus arteriosus | Enrichment | PTPN11 | 2.51 |
| 133 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 2.51 |
| 134 | Thrombocythemia 1 | Enrichment | SH2B3 | 2.48 |
| 135 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.45 |
| 136 | Nuchal bleb, familial | Enrichment | SOS1 | 2.45 |
| 137 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.45 |
| 138 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.45 |
| 139 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.45 |
| 140 | Spermatocytoma | Enrichment | HRAS | 2.45 |
| 141 | Keratoacanthoma | Enrichment | PIK3CA | 2.45 |
| 142 | Thrombocytopenia 5 | Enrichment | ETV6 | 2.38 |
| 143 | Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy | Enrichment | SPTBN1 | 2.38 |
| 144 | Thrombocytopenia | Enrichment | ETV6, PTPN11 | 2.36 |
| 145 | Erythrocytosis, familial, 1 | Enrichment | SH2B3 | 2.35 |
| 146 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.33 |
| 147 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.33 |
| 148 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.33 |
| 149 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.33 |
| 150 | Cerebrovascular disease | Enrichment | PIK3CA | 2.33 |
| 151 | Pilocytic astrocytoma | Enrichment | KRAS | 2.33 |
| 152 | Epidermolytic nevus | Enrichment | HRAS | 2.33 |
| 153 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.33 |
| 154 | Gingival fibromatosis | Enrichment | SOS1 | 2.33 |
| 155 | Immune deficiency disease | Enrichment | SYK | 2.31 |
| 156 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 2.29 |
| 157 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.25 |
| 158 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.25 |
| 159 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.25 |
| 160 | Pectus excavatum | Enrichment | PTPN11 | 2.25 |
| 161 | Specific learning disability | Enrichment | PTPN11 | 2.25 |
| 162 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.23 |
| 163 | Inherited cancer-predisposing syndrome | Enrichment | CDKN1B, PTPN11, SH2B3 | 2.23 |
| 164 | Epicanthus | Enrichment | PTPN11 | 2.21 |
| 165 | Congenital long qt syndrome | Enrichment | PTPN11 | 2.21 |
| 166 | Acute promyelocytic leukemia | Enrichment | STAT5B | 2.17 |
| 167 | Pervasive developmental disorder | Enrichment | SPTBN1 | 2.16 |
| 168 | Autosomal thrombocytopenia with normal platelets | Enrichment | ETV6 | 2.16 |
| 169 | Primary hypereosinophilic syndrome | Enrichment | ETV6 | 2.16 |
| 170 | Rare pervasive developmental disorder | Enrichment | SPTBN1 | 2.16 |
| 171 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 2.15 |
| 172 | Cowden syndrome 1 | Enrichment | PIK3CA | 2.15 |
| 173 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 2.15 |
| 174 | Myelofibrosis | Enrichment | SH2B3 | 2.11 |
| 175 | Essential thrombocythemia | Enrichment | SH2B3 | 2.11 |
| 176 | Pilomyxoid astrocytoma | Enrichment | KRAS | 2.08 |
| 177 | Overgrowth syndrome | Enrichment | PIK3R1 | 2.08 |
| 178 | Patent foramen ovale | Enrichment | PTPN11 | 2.03 |
| 179 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | FLT3 | 1.99 |
| 180 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.98 |
| 181 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 1.95 |
| 182 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.95 |
| 183 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.93 |
| 184 | Scoliosis | Enrichment | PTPN11 | 1.91 |
| 185 | Complex neurodevelopmental disorder | Enrichment | SPTBN1, ZMYM2 | 1.89 |
| 186 | Strabismus | Enrichment | PTPN11 | 1.86 |
| 187 | Severe combined immunodeficiency | Enrichment | LCK | 1.84 |
| 188 | Aortic valve disease 1 | Enrichment | SOS1 | 1.82 |
| 189 | Protein-deficiency anemia | Enrichment | NRAS | 1.82 |
| 190 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.81 |
| 191 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.79 |
| 192 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.79 |
| 193 | Megacolon | Enrichment | AKT3 | 1.71 |
| 194 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 1.66 |
| 195 | Hermansky-pudlak syndrome 1 | Enrichment | ETV6 | 1.65 |
| 196 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.65 |
| 197 | Endometrial cancer | Enrichment | PIK3CA | 1.61 |
| 198 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.59 |
| 199 | Diffuse large b-cell lymphoma | Enrichment | ETV6 | 1.58 |
| 200 | Polymicrogyria | Enrichment | AKT3 | 1.56 |
| 201 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 1.54 |
| 202 | Pancreatic cancer | Enrichment | KRAS | 1.54 |
| 203 | Prostate cancer | Enrichment | PIK3CA | 1.47 |
| 204 | Connective tissue disease | Enrichment | TRIP11 | 1.36 |
| 205 | Cakut | Enrichment | ZMYM2 | 1.33 |
| 206 | Autism spectrum disorder | Enrichment | PTPN11 | 1.26 |
| 207 | Hypertelorism | Enrichment | PIK3CA | 1.22 |
| 208 | Microcephaly | Enrichment | PTPN11 | 1.21 |
| 209 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 1.20 |
| 210 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.95 |