| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K1, PTPN11, RAF1, SOS1 | 7.47 |
| 2 | Noonan syndrome 1 | Enrichment | MAP2K1, PTPN11, RAF1, SOS1 | 6.66 |
| 3 | Rasopathy | Enrichment | MAP2K1, PTPN11, RAF1, SOS1 | 6.43 |
| 4 | Noonan syndrome 3 | Enrichment | PTPN11, RAF1, SOS1 | 6.38 |
| 5 | Colorectal cancer | Enrichment | AKT1, ERBB2, PIK3CA, PIK3R1, SRC | 5.77 |
| 6 | Lung non-small cell carcinoma | Enrichment | ERBB2, MAP2K1, PIK3CA | 5.71 |
| 7 | Meningioma | Enrichment | AKT1, NF2, PIK3CA | 5.59 |
| 8 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.79 |
| 9 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2, STAT3 | 4.79 |
| 10 | Breast cancer | Enrichment | AKT1, JUN, PIK3CA, SHC1 | 4.56 |
| 11 | Myasthenic syndrome, congenital, 1b, fast-channel | Enrichment | CHRNA1, CHRNE | 4.49 |
| 12 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11, RAF1 | 4.49 |
| 13 | Bladder cancer | Enrichment | ERBB2, ERBB3, PIK3CA | 4.38 |
| 14 | Hemimegalencephaly | Enrichment | MTOR, PIK3CA | 4.27 |
| 15 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 4.09 |
| 16 | Myelofibrosis | Enrichment | JAK2, SRC | 3.95 |
| 17 | Myasthenic syndrome, congenital, 1a, slow-channel | Enrichment | CHRNA1, CHRNE | 3.95 |
| 18 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 3.95 |
| 19 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.95 |
| 20 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA | 3.72 |
| 21 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.72 |
| 22 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA | 3.62 |
| 23 | Postsynaptic congenital myasthenic syndromes | Enrichment | CHRNA1, CHRNE | 3.46 |
| 24 | Congenital myasthenic syndrome | Enrichment | CHRNA1, CHRNE | 3.32 |
| 25 | Hydrops fetalis, nonimmune | Enrichment | CHRNA1, PTPN11 | 2.77 |
| 26 | Ovarian cancer | Enrichment | AKT1, ERBB2, PIK3CA | 2.77 |
| 27 | Hirschsprung disease 1 | Enrichment | ERBB2, ERBB3 | 2.68 |
| 28 | Erythroleukemia, familial | Enrichment | ERBB3 | 2.63 |
| 29 | Macrodactyly | Enrichment | PIK3CA | 2.63 |
| 30 | Proteus syndrome | Enrichment | AKT1 | 2.63 |
| 31 | Paget disease, extramammary | Enrichment | ERBB2 | 2.63 |
| 32 | Metachondromatosis | Enrichment | PTPN11 | 2.63 |
| 33 | Noonan syndrome 5 | Enrichment | RAF1 | 2.63 |
| 34 | Noonan syndrome 4 | Enrichment | SOS1 | 2.63 |
| 35 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.63 |
| 36 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.63 |
| 37 | Schwannomatosis, vestibular | Enrichment | NF2 | 2.63 |
| 38 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.63 |
| 39 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.63 |
| 40 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.63 |
| 41 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.63 |
| 42 | Lethal congenital contracture syndrome 2 | Enrichment | ERBB3 | 2.63 |
| 43 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.63 |
| 44 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.63 |
| 45 | Short syndrome | Enrichment | PIK3R1 | 2.63 |
| 46 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.63 |
| 47 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.63 |
| 48 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.63 |
| 49 | Melorheostosis | Enrichment | MAP2K1 | 2.63 |
| 50 | Leopard syndrome 2 | Enrichment | RAF1 | 2.63 |
| 51 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.63 |
| 52 | Cowden syndrome 6 | Enrichment | AKT1 | 2.63 |
| 53 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.63 |
| 54 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.63 |
| 55 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.63 |
| 56 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.63 |
| 57 | Thrombocytopenia 6 | Enrichment | SRC | 2.63 |
| 58 | Trigonitis | Enrichment | RAF1 | 2.63 |
| 59 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.63 |
| 60 | Autosomal recessive spastic paraplegia type 59 | Enrichment | USP8 | 2.63 |
| 61 | Hypospadias | Enrichment | PIK3CA | 2.63 |
| 62 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.63 |
| 63 | Rare venous malformation | Enrichment | PIK3CA | 2.63 |
| 64 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.63 |
| 65 | Acoustic neuroma | Enrichment | NF2 | 2.63 |
| 66 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.63 |
| 67 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.63 |
| 68 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.63 |
| 69 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.63 |
| 70 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.63 |
| 71 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.63 |
| 72 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.63 |
| 73 | Macrodactyly of toe | Enrichment | PIK3CA | 2.63 |
| 74 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.63 |
| 75 | Malignant astrocytoma | Enrichment | PTPN11 | 2.63 |
| 76 | Non-immune hydrops fetalis | Enrichment | CHRNA1, PTPN11 | 2.62 |
| 77 | Lung cancer | Enrichment | ERBB2, PIK3CA | 2.59 |
| 78 | Gastric cancer | Enrichment | ERBB2, PIK3CA | 2.34 |
| 79 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.33 |
| 80 | Pituitary adenoma 4, acth-secreting | Enrichment | USP8 | 2.33 |
| 81 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | ERBB3 | 2.33 |
| 82 | Pulmonic stenosis | Enrichment | SOS1 | 2.33 |
| 83 | Schwannomatosis 1 | Enrichment | NF2 | 2.33 |
| 84 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.33 |
| 85 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.33 |
| 86 | Thrombocythemia 3 | Enrichment | JAK2 | 2.33 |
| 87 | Werner syndrome | Enrichment | PTPN11 | 2.33 |
| 88 | Cebalid syndrome | Enrichment | MTOR | 2.33 |
| 89 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.33 |
| 90 | Hypobetalipoproteinemia, familial, 2 | Enrichment | DOCK7 | 2.33 |
| 91 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.33 |
| 92 | Developmental and epileptic encephalopathy 23 | Enrichment | DOCK7 | 2.33 |
| 93 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.33 |
| 94 | Polycythemia | Enrichment | JAK2 | 2.33 |
| 95 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.33 |
| 96 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 2.32 |
| 97 | Thrombocytopenia | Enrichment | PTPN11, SRC | 2.25 |
| 98 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.15 |
| 99 | Polycythemia vera | Enrichment | JAK2 | 2.15 |
| 100 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.15 |
| 101 | Nuchal bleb, familial | Enrichment | SOS1 | 2.15 |
| 102 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 2.15 |
| 103 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.15 |
| 104 | Hyper ige syndrome | Enrichment | STAT3 | 2.15 |
| 105 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.15 |
| 106 | Cellular ependymoma | Enrichment | NF2 | 2.15 |
| 107 | Tanycytic ependymoma | Enrichment | NF2 | 2.15 |
| 108 | Papillary ependymoma | Enrichment | NF2 | 2.15 |
| 109 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.15 |
| 110 | Spindle cell sarcoma | Enrichment | NF2 | 2.15 |
| 111 | Clear cell ependymoma | Enrichment | NF2 | 2.15 |
| 112 | Keratoacanthoma | Enrichment | PIK3CA | 2.15 |
| 113 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 2.03 |
| 114 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 2.03 |
| 115 | Budd-chiari syndrome | Enrichment | JAK2 | 2.03 |
| 116 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.03 |
| 117 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 2.03 |
| 118 | Barrett esophagus | Enrichment | ERBB2 | 2.03 |
| 119 | Congenital generalized lipodystrophy | Enrichment | FOS | 2.03 |
| 120 | Fetal akinesia deformation sequence 3 | Enrichment | DOCK7 | 2.03 |
| 121 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 2.03 |
| 122 | Cerebrovascular disease | Enrichment | PIK3CA | 2.03 |
| 123 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 2.03 |
| 124 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.03 |
| 125 | Full schwannomatosis | Enrichment | NF2 | 2.03 |
| 126 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 2.03 |
| 127 | Benign ependymoma | Enrichment | NF2 | 2.03 |
| 128 | Gingival fibromatosis | Enrichment | SOS1 | 2.03 |
| 129 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.93 |
| 130 | Myasthenic syndrome, congenital, 4a, slow-channel | Enrichment | CHRNE | 1.93 |
| 131 | Lymphoma | Enrichment | PTPN11 | 1.93 |
| 132 | Myasthenic syndrome, congenital, 4b, fast-channel | Enrichment | CHRNE | 1.93 |
| 133 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.93 |
| 134 | Histiocytoid hemangioma | Enrichment | FOS | 1.93 |
| 135 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.85 |
| 136 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.85 |
| 137 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.85 |
| 138 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.85 |
| 139 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.85 |
| 140 | Nevus, epidermal | Enrichment | PIK3CA | 1.79 |
| 141 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.79 |
| 142 | Essential thrombocythemia | Enrichment | JAK2 | 1.79 |
| 143 | Gallbladder cancer | Enrichment | PIK3CA | 1.79 |
| 144 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.79 |
| 145 | Melanocytic nevus syndrome, congenital | Enrichment | RAF1 | 1.73 |
| 146 | Glioma susceptibility 1 | Enrichment | ERBB2 | 1.73 |
| 147 | Multiple pterygium syndrome, lethal type | Enrichment | CHRNA1 | 1.73 |
| 148 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.73 |
| 149 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.68 |
| 150 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.68 |
| 151 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.68 |
| 152 | Primary hyperaldosteronism | Enrichment | USP8 | 1.68 |
| 153 | Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency | Enrichment | CHRNE | 1.63 |
| 154 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.63 |
| 155 | Pectus excavatum | Enrichment | PTPN11 | 1.59 |
| 156 | Meningioma, familial | Enrichment | NF2 | 1.59 |
| 157 | Specific learning disability | Enrichment | PTPN11 | 1.59 |
| 158 | Autism spectrum disorder | Enrichment | MAP2K1, PTPN11 | 1.57 |
| 159 | Epicanthus | Enrichment | PTPN11 | 1.55 |
| 160 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.55 |
| 161 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.55 |
| 162 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.55 |
| 163 | Aortic valve disease 1 | Enrichment | SOS1 | 1.52 |
| 164 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.52 |
| 165 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.52 |
| 166 | Osteoporosis | Enrichment | SRC | 1.49 |
| 167 | Lung cancer susceptibility 3 | Enrichment | ERBB2 | 1.49 |
| 168 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.49 |
| 169 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.46 |
| 170 | Lynch syndrome | Enrichment | PIK3CA | 1.46 |
| 171 | Rare genetic intellectual disability | Enrichment | MTOR | 1.46 |
| 172 | Inherited cancer-predisposing syndrome | Enrichment | NF2, PTPN11 | 1.41 |
| 173 | Patent foramen ovale | Enrichment | PTPN11 | 1.38 |
| 174 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 1.36 |
| 175 | Congenital myopathy | Enrichment | CHRNA1 | 1.36 |
| 176 | Endometrial cancer | Enrichment | PIK3CA | 1.31 |
| 177 | Centronuclear myopathy | Enrichment | CHRNA1 | 1.31 |
| 178 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.30 |
| 179 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.26 |
| 180 | Scoliosis | Enrichment | PTPN11 | 1.26 |
| 181 | Strabismus | Enrichment | PTPN11 | 1.21 |
| 182 | Prostate cancer | Enrichment | PIK3CA | 1.18 |
| 183 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.16 |
| 184 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.12 |
| 185 | Left ventricular noncompaction | Enrichment | RAF1 | 1.10 |
| 186 | Leukemia, acute myeloid | Enrichment | JAK2 | 1.04 |
| 187 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 1.01 |
| 188 | Hypertelorism | Enrichment | PIK3CA | 0.94 |
| 189 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.93 |
| 190 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.91 |
| 191 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.88 |
| 192 | Autism | Enrichment | CHRNA1 | 0.80 |
| 193 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.76 |
| 194 | Microcephaly | Enrichment | PTPN11 | 0.60 |