| 1 | Noonan syndrome 3 | Enrichment | HRAS, RAF1, SOS1 | 6.42 |
| 2 | Primary hypereosinophilic syndrome | Enrichment | PDGFRA, PDGFRB | 5.79 |
| 3 | Immune system disease | Enrichment | CDC42, PIK3CD | 5.56 |
| 4 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 5.34 |
| 5 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, RAF1, SOS1 | 5.32 |
| 6 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 5.08 |
| 7 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 5.08 |
| 8 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 5.08 |
| 9 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, STAT3 | 4.82 |
| 10 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 4.78 |
| 11 | Noonan syndrome 1 | Enrichment | HRAS, RAF1, SOS1 | 4.73 |
| 12 | Rasopathy | Enrichment | HRAS, RAF1, SOS1 | 4.57 |
| 13 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 4.39 |
| 14 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.91 |
| 15 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 3.85 |
| 16 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 3.83 |
| 17 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 3.83 |
| 18 | Gist-plus syndrome | Enrichment | PDGFRA | 3.83 |
| 19 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 3.83 |
| 20 | Meningioma | Enrichment | PDGFB, PIK3CA | 3.75 |
| 21 | Arteriovenous malformation | Enrichment | HRAS, RASA1 | 3.74 |
| 22 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, RASA1 | 3.65 |
| 23 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 3.53 |
| 24 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 3.53 |
| 25 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 3.53 |
| 26 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 3.35 |
| 27 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 3.35 |
| 28 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 3.35 |
| 29 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 3.35 |
| 30 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 3.35 |
| 31 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 3.35 |
| 32 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 3.05 |
| 33 | Infantile myofibromatosis | Enrichment | PDGFRB | 3.05 |
| 34 | Gastrointestinal stromal tumor | Enrichment | PDGFRA | 2.99 |
| 35 | Meningioma, familial | Enrichment | PDGFB | 2.79 |
| 36 | Macrodactyly | Enrichment | PIK3CA | 2.77 |
| 37 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.77 |
| 38 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.77 |
| 39 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.77 |
| 40 | Short syndrome | Enrichment | PIK3R1 | 2.77 |
| 41 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 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 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.77 |
| 45 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.77 |
| 46 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.77 |
| 47 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.77 |
| 48 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.77 |
| 49 | Neurodevelopmental disorder with language delay and seizures | Enrichment | TIAM1 | 2.77 |
| 50 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.77 |
| 51 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.77 |
| 52 | Hypospadias | Enrichment | PIK3CA | 2.77 |
| 53 | Rare venous malformation | Enrichment | PIK3CA | 2.77 |
| 54 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.77 |
| 55 | Nocarh syndrome | Enrichment | CDC42 | 2.77 |
| 56 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.77 |
| 57 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.77 |
| 58 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.77 |
| 59 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.77 |
| 60 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.77 |
| 61 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.77 |
| 62 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.77 |
| 63 | Macrodactyly of toe | Enrichment | PIK3CA | 2.77 |
| 64 | Cleft lip/palate | Enrichment | PDGFRA | 2.69 |
| 65 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.64 |
| 66 | Noonan syndrome 5 | Enrichment | RAF1 | 2.64 |
| 67 | Noonan syndrome 4 | Enrichment | SOS1 | 2.64 |
| 68 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.64 |
| 69 | Fetal encasement syndrome | Enrichment | CHUK | 2.64 |
| 70 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.64 |
| 71 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.64 |
| 72 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.64 |
| 73 | Leopard syndrome 2 | Enrichment | RAF1 | 2.64 |
| 74 | Immunodeficiency 31a | Enrichment | STAT1 | 2.64 |
| 75 | Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder | Enrichment | PLA2G4A | 2.64 |
| 76 | Immunodeficiency 31b | Enrichment | STAT1 | 2.64 |
| 77 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.64 |
| 78 | Thrombocytopenia 6 | Enrichment | SRC | 2.64 |
| 79 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets | Enrichment | PLA2G4A | 2.64 |
| 80 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.64 |
| 81 | Trigonitis | Enrichment | RAF1 | 2.64 |
| 82 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.64 |
| 83 | Gorham's disease | Enrichment | RASA1 | 2.64 |
| 84 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.64 |
| 85 | Cryptogenic multifocal ulcerous stenosing enteritis | Enrichment | PLA2G4A | 2.64 |
| 86 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.64 |
| 87 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.64 |
| 88 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.64 |
| 89 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.47 |
| 90 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.47 |
| 91 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.47 |
| 92 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.47 |
| 93 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.47 |
| 94 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.34 |
| 95 | Costello syndrome | Enrichment | HRAS | 2.34 |
| 96 | Pulmonic stenosis | Enrichment | SOS1 | 2.34 |
| 97 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.34 |
| 98 | Immunodeficiency 31c | Enrichment | STAT1 | 2.34 |
| 99 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.34 |
| 100 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.34 |
| 101 | Wooly hair nevus | Enrichment | HRAS | 2.34 |
| 102 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.29 |
| 103 | Keratoacanthoma | Enrichment | PIK3CA | 2.29 |
| 104 | Hydrocephalus | Enrichment | PDGFRB | 2.18 |
| 105 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 2.17 |
| 106 | Cerebrovascular disease | Enrichment | PIK3CA | 2.17 |
| 107 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 2.17 |
| 108 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.17 |
| 109 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.16 |
| 110 | Nuchal bleb, familial | Enrichment | SOS1 | 2.16 |
| 111 | Large congenital melanocytic nevus | Enrichment | HRAS | 2.16 |
| 112 | Hyper ige syndrome | Enrichment | STAT3 | 2.16 |
| 113 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.16 |
| 114 | Spermatocytoma | Enrichment | HRAS | 2.16 |
| 115 | Dandy-walker syndrome | Enrichment | PDGFRB | 2.13 |
| 116 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.07 |
| 117 | Hemimegalencephaly | Enrichment | PIK3CA | 2.07 |
| 118 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 2.04 |
| 119 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.04 |
| 120 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 2.04 |
| 121 | Epidermolytic nevus | Enrichment | HRAS | 2.04 |
| 122 | Gingival fibromatosis | Enrichment | SOS1 | 2.04 |
| 123 | Colorectal cancer | Enrichment | PIK3CA, PIK3R1 | 2.03 |
| 124 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.99 |
| 125 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.99 |
| 126 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.99 |
| 127 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.99 |
| 128 | Nevus, epidermal | Enrichment | PIK3CA | 1.93 |
| 129 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.93 |
| 130 | Gallbladder cancer | Enrichment | PIK3CA | 1.93 |
| 131 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.93 |
| 132 | Ovarian cancer | Enrichment | PDGFRA, PIK3CA | 1.90 |
| 133 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.87 |
| 134 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.87 |
| 135 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.87 |
| 136 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.87 |
| 137 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.82 |
| 138 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.82 |
| 139 | Cowden syndrome | Enrichment | PIK3CA | 1.82 |
| 140 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.80 |
| 141 | Myelofibrosis | Enrichment | SRC | 1.80 |
| 142 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.80 |
| 143 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.80 |
| 144 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.80 |
| 145 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.80 |
| 146 | Cerebral palsy | Enrichment | PDGFRB | 1.77 |
| 147 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.74 |
| 148 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.73 |
| 149 | Inherited cancer-predisposing syndrome | Enrichment | PDGFRA | 1.71 |
| 150 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.70 |
| 151 | Mitochondrial myopathy, infantile, transient | Enrichment | MT-CO2 | 1.69 |
| 152 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.66 |
| 153 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.65 |
| 154 | Familial colorectal cancer | Enrichment | MT-CO2 | 1.65 |
| 155 | Mitochondrial myopathy with reversible cytochrome c oxidase deficiency | Enrichment | MT-CO2 | 1.65 |
| 156 | Specific learning disability | Enrichment | MAPK1 | 1.60 |
| 157 | Lynch syndrome | Enrichment | PIK3CA | 1.60 |
| 158 | Aortic valve disease 1 | Enrichment | SOS1 | 1.53 |
| 159 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.53 |
| 160 | Osteoporosis | Enrichment | SRC | 1.50 |
| 161 | Cox deficiency, benign infantile mitochondrial myopathy | Enrichment | MT-CO2 | 1.50 |
| 162 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.50 |
| 163 | Endometrial cancer | Enrichment | PIK3CA | 1.46 |
| 164 | Rhabdomyosarcoma | Enrichment | HRAS | 1.44 |
| 165 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.44 |
| 166 | Heart, malformation of | Enrichment | MAPK1 | 1.39 |
| 167 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 1.37 |
| 168 | Bladder cancer | Enrichment | PIK3CA | 1.32 |
| 169 | Prostate cancer | Enrichment | PIK3CA | 1.32 |
| 170 | Mitochondrial complex iv deficiency, nuclear type 1 | Enrichment | MT-CO2 | 1.31 |
| 171 | Lung cancer | Enrichment | PIK3CA | 1.28 |
| 172 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.27 |
| 173 | Tetralogy of fallot | Enrichment | MT-CO2 | 1.24 |
| 174 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.24 |
| 175 | Mitochondrial complex v deficiency, mitochondrial type 1 | Enrichment | MT-CO2 | 1.24 |
| 176 | Neuropathy, ataxia, and retinitis pigmentosa | Enrichment | MT-CO2 | 1.24 |
| 177 | Striatonigral degeneration, infantile, mitochondrial | Enrichment | MT-CO2 | 1.24 |
| 178 | Camptodactyly of fingers | Enrichment | MT-CO2 | 1.24 |
| 179 | Differentiated thyroid carcinoma | Enrichment | HRAS | 1.19 |
| 180 | Non-immune hydrops fetalis | Enrichment | HRAS | 1.16 |
| 181 | Gastric cancer | Enrichment | PIK3CA | 1.15 |
| 182 | Hereditary breast carcinoma | Enrichment | PIK3CA | 1.14 |
| 183 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.14 |
| 184 | Left ventricular noncompaction | Enrichment | RAF1 | 1.11 |
| 185 | Leber hereditary optic neuropathy, modifier of | Enrichment | MT-CO2 | 1.09 |
| 186 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | Enrichment | MT-CO2 | 1.08 |
| 187 | Hypertelorism | Enrichment | PIK3CA | 1.07 |
| 188 | Myeloma, multiple | Enrichment | PIK3R2 | 1.04 |
| 189 | Thrombocytopenia | Enrichment | SRC | 0.98 |
| 190 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.94 |
| 191 | Breast cancer | Enrichment | PIK3CA | 0.92 |
| 192 | Leigh syndrome, nuclear | Enrichment | MT-CO2 | 0.83 |
| 193 | Leigh disease | Enrichment | MT-CO2 | 0.80 |
| 194 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.78 |
| 195 | Mitochondrial disease | Enrichment | MT-CO2 | 0.74 |
| 196 | Complex neurodevelopmental disorder | Enrichment | TIAM1 | 0.72 |
| 197 | Leber plus disease | Enrichment | MT-CO2 | 0.71 |
| 198 | Microcephaly | Enrichment | MAPK1 | 0.61 |
| 199 | Retinitis pigmentosa | Enrichment | MT-CO2 | 0.41 |