| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K1, PTPN11, RIT1, SOS1 | 6.66 |
| 2 | Noonan syndrome 1 | Enrichment | MAP2K1, PTPN11, RIT1, SOS1 | 5.86 |
| 3 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA, RASA1 | 5.79 |
| 4 | Rasopathy | Enrichment | MAP2K1, PTPN11, RIT1, SOS1 | 5.64 |
| 5 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA, RASA1 | 5.41 |
| 6 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA, RASA1 | 5.26 |
| 7 | Noonan syndrome 8 | Enrichment | PIK3CA, RIT1 | 4.88 |
| 8 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.40 |
| 9 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, RIT1 | 4.10 |
| 10 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42, PTPN11 | 4.10 |
| 11 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 3.88 |
| 12 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 3.70 |
| 13 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.70 |
| 14 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NGF, NTRK1 | 3.56 |
| 15 | Noonan syndrome 3 | Enrichment | PTPN11, SOS1 | 3.56 |
| 16 | Lung non-small cell carcinoma | Enrichment | MAP2K1, PIK3CA | 3.14 |
| 17 | Lip and oral cavity carcinoma | Enrichment | ABL1, PIK3CA | 3.07 |
| 18 | Heart disease | Enrichment | ABL1, RIT1 | 2.93 |
| 19 | Macrodactyly | Enrichment | PIK3CA | 2.43 |
| 20 | Metachondromatosis | Enrichment | PTPN11 | 2.43 |
| 21 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.43 |
| 22 | Paget disease of bone 3 | Enrichment | SQSTM1 | 2.43 |
| 23 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.43 |
| 24 | Noonan syndrome 4 | Enrichment | SOS1 | 2.43 |
| 25 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.43 |
| 26 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.43 |
| 27 | White blood cell count quantitative trait locus 1 | Enrichment | ACKR1 | 2.43 |
| 28 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.43 |
| 29 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.43 |
| 30 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.43 |
| 31 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.43 |
| 32 | Ventriculomegaly and arthrogryposis | Enrichment | KIDINS220 | 2.43 |
| 33 | Myopathy, distal, with rimmed vacuoles | Enrichment | SQSTM1 | 2.43 |
| 34 | Developmental and epileptic encephalopathy 58 | Enrichment | NTRK2 | 2.43 |
| 35 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | Enrichment | SQSTM1 | 2.43 |
| 36 | Short syndrome | Enrichment | PIK3R1 | 2.43 |
| 37 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.43 |
| 38 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.43 |
| 39 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.43 |
| 40 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.43 |
| 41 | Melorheostosis | Enrichment | MAP2K1 | 2.43 |
| 42 | Oculopharyngodistal myopathy 2 | Enrichment | GIPC1 | 2.43 |
| 43 | Glaucoma 1, open angle, o | Enrichment | NTF4 | 2.43 |
| 44 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.43 |
| 45 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.43 |
| 46 | Obesity, hyperphagia, and developmental delay | Enrichment | NTRK2 | 2.43 |
| 47 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.43 |
| 48 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.43 |
| 49 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.43 |
| 50 | Neurodevelopmental disorder with language delay and seizures | Enrichment | TIAM1 | 2.43 |
| 51 | Periventricular nodular heterotopia 7 | Enrichment | NEDD4L | 2.43 |
| 52 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.43 |
| 53 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.43 |
| 54 | Hypospadias | Enrichment | PIK3CA | 2.43 |
| 55 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.43 |
| 56 | Rare venous malformation | Enrichment | PIK3CA | 2.43 |
| 57 | Gorham's disease | Enrichment | RASA1 | 2.43 |
| 58 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.43 |
| 59 | Nocarh syndrome | Enrichment | CDC42 | 2.43 |
| 60 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.43 |
| 61 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.43 |
| 62 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.43 |
| 63 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.43 |
| 64 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.43 |
| 65 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.43 |
| 66 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.43 |
| 67 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.43 |
| 68 | Macrodactyly of toe | Enrichment | PIK3CA | 2.43 |
| 69 | Temporomandibular joint anomaly | Enrichment | DOCK1 | 2.43 |
| 70 | Malignant astrocytoma | Enrichment | PTPN11 | 2.43 |
| 71 | Colorectal cancer | Enrichment | CCND1, PIK3CA, PIK3R1 | 2.40 |
| 72 | Hydrops fetalis, nonimmune | Enrichment | PTPN11, RIT1 | 2.39 |
| 73 | Differentiated thyroid carcinoma | Enrichment | NTRK1, NTRK3 | 2.29 |
| 74 | Non-immune hydrops fetalis | Enrichment | PTPN11, RIT1 | 2.24 |
| 75 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.13 |
| 76 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 2.13 |
| 77 | Pulmonic stenosis | Enrichment | SOS1 | 2.13 |
| 78 | Welander distal myopathy | Enrichment | SQSTM1 | 2.13 |
| 79 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.13 |
| 80 | Spastic paraplegia, intellectual disability, nystagmus, and obesity | Enrichment | KIDINS220 | 2.13 |
| 81 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 2.13 |
| 82 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Enrichment | SQSTM1 | 2.13 |
| 83 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.13 |
| 84 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.13 |
| 85 | Werner syndrome | Enrichment | PTPN11 | 2.13 |
| 86 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.13 |
| 87 | Congenital mesoblastic nephroma | Enrichment | NTRK3 | 2.13 |
| 88 | Immune system disease | Enrichment | CDC42 | 2.13 |
| 89 | Fibrosarcoma | Enrichment | NTRK3 | 2.13 |
| 90 | Paget's disease of bone | Enrichment | SQSTM1 | 2.13 |
| 91 | Spastic paraplegia-paget disease of bone syndrome | Enrichment | SQSTM1 | 2.13 |
| 92 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.96 |
| 93 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1 | 1.96 |
| 94 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.96 |
| 95 | Nuchal bleb, familial | Enrichment | SOS1 | 1.96 |
| 96 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.96 |
| 97 | Chromosome 5q14.3 deletion syndrome, distal | Enrichment | NEDD4L | 1.96 |
| 98 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.96 |
| 99 | Developmental and epileptic encephalopathy 31b | Enrichment | DNM1 | 1.96 |
| 100 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 1.96 |
| 101 | Hyper ige syndrome | Enrichment | STAT3 | 1.96 |
| 102 | Wieacker-wolff syndrome | Enrichment | RASA1 | 1.96 |
| 103 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.96 |
| 104 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.96 |
| 105 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.96 |
| 106 | Keratoacanthoma | Enrichment | PIK3CA | 1.96 |
| 107 | West syndrome | Enrichment | DNM1, NTRK2 | 1.94 |
| 108 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 1.83 |
| 109 | Paget disease of bone 2, early-onset | Enrichment | SQSTM1 | 1.83 |
| 110 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | CRKL | 1.83 |
| 111 | Mantle cell lymphoma | Enrichment | CCND1 | 1.83 |
| 112 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 1.83 |
| 113 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 1.83 |
| 114 | Cerebrovascular disease | Enrichment | PIK3CA | 1.83 |
| 115 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.83 |
| 116 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.83 |
| 117 | Paget's disease of bone 2 | Enrichment | SQSTM1 | 1.83 |
| 118 | Glioma | Enrichment | NTRK3 | 1.83 |
| 119 | Gingival fibromatosis | Enrichment | SOS1 | 1.83 |
| 120 | Hypertelorism | Enrichment | PIK3CA, RIT1 | 1.80 |
| 121 | Undetermined early-onset epileptic encephalopathy | Enrichment | DNM1, NTRK2 | 1.74 |
| 122 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.74 |
| 123 | Developmental and epileptic encephalopathy 31a | Enrichment | DNM1 | 1.74 |
| 124 | Lymphoma | Enrichment | PTPN11 | 1.74 |
| 125 | Hemimegalencephaly | Enrichment | PIK3CA | 1.74 |
| 126 | Kabuki syndrome 1 | Enrichment | KIDINS220 | 1.66 |
| 127 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.66 |
| 128 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.66 |
| 129 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF | 1.66 |
| 130 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.66 |
| 131 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.66 |
| 132 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.66 |
| 133 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.66 |
| 134 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.66 |
| 135 | Oculopharyngodistal myopathy 1 | Enrichment | GIPC1 | 1.59 |
| 136 | Nevus, epidermal | Enrichment | PIK3CA | 1.59 |
| 137 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.59 |
| 138 | Gallbladder cancer | Enrichment | PIK3CA | 1.59 |
| 139 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.59 |
| 140 | Pilomyxoid astrocytoma | Enrichment | NTRK2 | 1.59 |
| 141 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.59 |
| 142 | Moyamoya angiopathy | Enrichment | ABL1 | 1.59 |
| 143 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1 | 1.59 |
| 144 | Lennox-gastaut syndrome | Enrichment | DNM1 | 1.54 |
| 145 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.54 |
| 146 | Breast cancer | Enrichment | PIK3CA, SHC1 | 1.51 |
| 147 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.49 |
| 148 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.49 |
| 149 | Congenital central hypoventilation syndrome | Enrichment | BDNF | 1.49 |
| 150 | Cowden syndrome | Enrichment | PIK3CA | 1.49 |
| 151 | Behavioral variant of frontotemporal dementia | Enrichment | SQSTM1 | 1.49 |
| 152 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.44 |
| 153 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Enrichment | SQSTM1 | 1.44 |
| 154 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.44 |
| 155 | Pectus excavatum | Enrichment | PTPN11 | 1.40 |
| 156 | Specific learning disability | Enrichment | PTPN11 | 1.40 |
| 157 | Epicanthus | Enrichment | PTPN11 | 1.36 |
| 158 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.36 |
| 159 | Meningioma | Enrichment | PIK3CA | 1.36 |
| 160 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.36 |
| 161 | Aortic valve disease 1 | Enrichment | SOS1 | 1.33 |
| 162 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.33 |
| 163 | Stereotypic movement disorder | Enrichment | DNM1 | 1.33 |
| 164 | Periventricular nodular heterotopia | Enrichment | NEDD4L | 1.30 |
| 165 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.30 |
| 166 | Ovarian cancer | Enrichment | NTRK1, PIK3CA | 1.27 |
| 167 | Lynch syndrome | Enrichment | PIK3CA | 1.27 |
| 168 | Autism spectrum disorder | Enrichment | MAP2K1, PTPN11 | 1.21 |
| 169 | Patent foramen ovale | Enrichment | PTPN11 | 1.19 |
| 170 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 1.17 |
| 171 | Endometrial cancer | Enrichment | PIK3CA | 1.13 |
| 172 | Microcephaly | Enrichment | ABL1, PTPN11 | 1.12 |
| 173 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.11 |
| 174 | Malaria | Enrichment | ACKR1 | 1.09 |
| 175 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.09 |
| 176 | Scoliosis | Enrichment | PTPN11 | 1.07 |
| 177 | Strabismus | Enrichment | PTPN11 | 1.02 |
| 178 | Bladder cancer | Enrichment | PIK3CA | 0.99 |
| 179 | Prostate cancer | Enrichment | PIK3CA | 0.99 |
| 180 | Long qt syndrome 1 | Enrichment | PTPN11 | 0.98 |
| 181 | Lung cancer | Enrichment | PIK3CA | 0.95 |
| 182 | Peripheral nervous system disease | Enrichment | NGF | 0.95 |
| 183 | Neuropathy | Enrichment | NGF | 0.95 |
| 184 | Cerebral palsy | Enrichment | KIDINS220 | 0.87 |
| 185 | Gastric cancer | Enrichment | PIK3CA | 0.83 |
| 186 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.83 |
| 187 | Hereditary breast carcinoma | Enrichment | PIK3CA | 0.82 |
| 188 | Thrombocytopenia | Enrichment | PTPN11 | 0.79 |
| 189 | Body mass index quantitative trait locus 11 | Enrichment | BDNF | 0.77 |
| 190 | Myeloma, multiple | Enrichment | CCND1 | 0.73 |
| 191 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.73 |
| 192 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | SQSTM1 | 0.71 |
| 193 | Primary ovarian insufficiency | Enrichment | NTRK1 | 0.71 |
| 194 | Complex neurodevelopmental disorder | Enrichment | TIAM1 | 0.43 |
| 195 | Inherited cancer-predisposing syndrome | Enrichment | PTPN11 | 0.41 |