| 1 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA, RASA1, TEK | 8.23 |
| 2 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA, RASA1, TEK | 8.01 |
| 3 | Noonan syndrome 1 | Enrichment | HRAS, RAF1, SOS1, SOS2 | 6.40 |
| 4 | Noonan syndrome 3 | Enrichment | HRAS, RAF1, SOS1 | 6.19 |
| 5 | Rasopathy | Enrichment | HRAS, RAF1, SOS1, SOS2 | 6.17 |
| 6 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, RAF1, SOS1 | 5.08 |
| 7 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 4.14 |
| 8 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 3.97 |
| 9 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 3.82 |
| 10 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA, RASA1 | 3.82 |
| 11 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 3.70 |
| 12 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 3.70 |
| 13 | Congenital central hypoventilation syndrome | Enrichment | GDNF, RET | 3.59 |
| 14 | Renal agenesis, bilateral | Enrichment | GFRA1, RET | 3.59 |
| 15 | Lung non-small cell carcinoma | Enrichment | HRAS, PIK3CA | 3.41 |
| 16 | Meningioma | Enrichment | PDGFB, PIK3CA | 3.33 |
| 17 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 3.33 |
| 18 | Breast cancer | Enrichment | PIK3CA, RET, SHC1 | 2.96 |
| 19 | Hepatocellular carcinoma | Enrichment | PIK3CA, RET | 2.79 |
| 20 | Colorectal cancer | Enrichment | PIK3CA, RET, SRC | 2.77 |
| 21 | Multiple endocrine neoplasia, type iib | Enrichment | RET | 2.56 |
| 22 | Macrodactyly | Enrichment | PIK3CA | 2.56 |
| 23 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.56 |
| 24 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.56 |
| 25 | Noonan syndrome 5 | Enrichment | RAF1 | 2.56 |
| 26 | Noonan syndrome 4 | Enrichment | SOS1 | 2.56 |
| 27 | Resting heart rate, variation in | Enrichment | ADRB1 | 2.56 |
| 28 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.56 |
| 29 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.56 |
| 30 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.56 |
| 31 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.56 |
| 32 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.56 |
| 33 | Noonan syndrome 9 | Enrichment | SOS2 | 2.56 |
| 34 | Immunodeficiency 64 with lymphoproliferation | Enrichment | RASGRP1 | 2.56 |
| 35 | Angioedema, hereditary, 5 | Enrichment | ANGPT1 | 2.56 |
| 36 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.56 |
| 37 | Venous malformations, multiple cutaneous and mucosal | Enrichment | TEK | 2.56 |
| 38 | Renal hypodysplasia/aplasia 4 | Enrichment | GFRA1 | 2.56 |
| 39 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.56 |
| 40 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.56 |
| 41 | Oculopharyngodistal myopathy 2 | Enrichment | GIPC1 | 2.56 |
| 42 | Leopard syndrome 2 | Enrichment | RAF1 | 2.56 |
| 43 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.56 |
| 44 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.56 |
| 45 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.56 |
| 46 | Hirschsprung disease 3 | Enrichment | GDNF | 2.56 |
| 47 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.56 |
| 48 | Immunodeficiency 22 | Enrichment | LCK | 2.56 |
| 49 | Thrombocytopenia 6 | Enrichment | SRC | 2.56 |
| 50 | Glaucoma 3, primary congenital, e | Enrichment | TEK | 2.56 |
| 51 | Epilepsy, familial adult myoclonic, 7 | Enrichment | RAPGEF2 | 2.56 |
| 52 | Neurodevelopmental disorder with language delay and seizures | Enrichment | TIAM1 | 2.56 |
| 53 | Short sleep, familial natural, 2 | Enrichment | ADRB1 | 2.56 |
| 54 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.56 |
| 55 | Trigonitis | Enrichment | RAF1 | 2.56 |
| 56 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.56 |
| 57 | Hypospadias | Enrichment | PIK3CA | 2.56 |
| 58 | Bockenheimer syndrome | Enrichment | TEK | 2.56 |
| 59 | Thyroid cancer | Enrichment | RET | 2.56 |
| 60 | Rare venous malformation | Enrichment | PIK3CA | 2.56 |
| 61 | Immunodeficiency 64 | Enrichment | RASGRP1 | 2.56 |
| 62 | Gorham's disease | Enrichment | RASA1 | 2.56 |
| 63 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.56 |
| 64 | Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency | Enrichment | RASGRP1 | 2.56 |
| 65 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.56 |
| 66 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.56 |
| 67 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.56 |
| 68 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.56 |
| 69 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.56 |
| 70 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.56 |
| 71 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.56 |
| 72 | Macrodactyly of toe | Enrichment | PIK3CA | 2.56 |
| 73 | Gastrointestinal system disease | Enrichment | RET | 2.56 |
| 74 | Multiple endocrine neoplasia | Enrichment | RET | 2.56 |
| 75 | Bladder cancer | Enrichment | HRAS, PIK3CA | 2.55 |
| 76 | Hirschsprung disease 1 | Enrichment | GDNF, RET | 2.55 |
| 77 | Differentiated thyroid carcinoma | Enrichment | HRAS, RET | 2.55 |
| 78 | Blue rubber bleb nevus | Enrichment | TEK | 2.26 |
| 79 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.26 |
| 80 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.26 |
| 81 | Costello syndrome | Enrichment | HRAS | 2.26 |
| 82 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 2.26 |
| 83 | Pulmonic stenosis | Enrichment | SOS1 | 2.26 |
| 84 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.26 |
| 85 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.26 |
| 86 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.26 |
| 87 | Myopia 28, autosomal recessive | Enrichment | DOK1 | 2.26 |
| 88 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.26 |
| 89 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.26 |
| 90 | Medullary thyroid carcinoma | Enrichment | RET | 2.26 |
| 91 | Immune system disease | Enrichment | PIK3CD | 2.26 |
| 92 | Wooly hair nevus | Enrichment | HRAS | 2.26 |
| 93 | Hereditary breast carcinoma | Enrichment | PIK3CA, RET | 2.20 |
| 94 | Thyroid carcinoma, familial medullary | Enrichment | RET | 2.09 |
| 95 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.09 |
| 96 | Nuchal bleb, familial | Enrichment | SOS1 | 2.09 |
| 97 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 2.09 |
| 98 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | BCR | 2.09 |
| 99 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD | 2.09 |
| 100 | Large congenital melanocytic nevus | Enrichment | HRAS | 2.09 |
| 101 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.09 |
| 102 | Gingival overgrowth | Enrichment | RET | 2.09 |
| 103 | Immunodeficiency 14 | Enrichment | PIK3CD | 2.09 |
| 104 | Spermatocytoma | Enrichment | HRAS | 2.09 |
| 105 | Keratoacanthoma | Enrichment | PIK3CA | 2.09 |
| 106 | Hypertelorism | Enrichment | PIK3CA, RET | 2.06 |
| 107 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.96 |
| 108 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.96 |
| 109 | Glaucoma 3, primary infantile, b | Enrichment | TEK | 1.96 |
| 110 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | BCR | 1.96 |
| 111 | Central hypoventilation syndrome, congenital, 1 | Enrichment | RET | 1.96 |
| 112 | Cerebrovascular disease | Enrichment | PIK3CA | 1.96 |
| 113 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.96 |
| 114 | Epidermolytic nevus | Enrichment | HRAS | 1.96 |
| 115 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.96 |
| 116 | Haddad syndrome | Enrichment | RET | 1.96 |
| 117 | Gingival fibromatosis | Enrichment | SOS1 | 1.96 |
| 118 | Hereditary angioedema with normal c1inh not related to f12 or plg variant | Enrichment | ANGPT1 | 1.96 |
| 119 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.96 |
| 120 | Multiple endocrine neoplasia, type iia | Enrichment | RET | 1.87 |
| 121 | Hemimegalencephaly | Enrichment | PIK3CA | 1.87 |
| 122 | Primary hypereosinophilic syndrome | Enrichment | PDGFRB | 1.87 |
| 123 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.79 |
| 124 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.79 |
| 125 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.79 |
| 126 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.79 |
| 127 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.79 |
| 128 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.79 |
| 129 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.79 |
| 130 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | RET | 1.79 |
| 131 | Oculopharyngodistal myopathy 1 | Enrichment | GIPC1 | 1.72 |
| 132 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.72 |
| 133 | Glaucoma 3, primary congenital, a | Enrichment | TEK | 1.72 |
| 134 | Myelofibrosis | Enrichment | SRC | 1.72 |
| 135 | Leukemia, chronic myeloid | Enrichment | BCR | 1.72 |
| 136 | Gallbladder cancer | Enrichment | PIK3CA | 1.72 |
| 137 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.72 |
| 138 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.72 |
| 139 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.72 |
| 140 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | BCR | 1.72 |
| 141 | Renal hypodysplasia/aplasia 1 | Enrichment | RET | 1.67 |
| 142 | Hypothyroidism | Enrichment | RET | 1.67 |
| 143 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.61 |
| 144 | Ventricular septal defect | Enrichment | TEK | 1.61 |
| 145 | Cowden syndrome | Enrichment | PIK3CA | 1.61 |
| 146 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD | 1.57 |
| 147 | Meningioma, familial | Enrichment | PDGFB | 1.53 |
| 148 | Ovarian cancer | Enrichment | PIK3CA, RET | 1.51 |
| 149 | Renal hypodysplasia/aplasia 3 | Enrichment | RET | 1.49 |
| 150 | Aortic valve disease 1 | Enrichment | SOS1 | 1.46 |
| 151 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.46 |
| 152 | Osteoporosis | Enrichment | SRC | 1.43 |
| 153 | Pheochromocytoma | Enrichment | RET | 1.43 |
| 154 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.43 |
| 155 | Hydrocephalus | Enrichment | PDGFRB | 1.40 |
| 156 | Lynch syndrome | Enrichment | PIK3CA | 1.40 |
| 157 | Rhabdomyosarcoma | Enrichment | HRAS | 1.37 |
| 158 | Dandy-walker syndrome | Enrichment | PDGFRB | 1.34 |
| 159 | Endometrial cancer | Enrichment | PIK3CA | 1.25 |
| 160 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | RET | 1.25 |
| 161 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | BCR | 1.22 |
| 162 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.20 |
| 163 | Tetralogy of fallot | Enrichment | RET | 1.16 |
| 164 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.16 |
| 165 | Prostate cancer | Enrichment | PIK3CA | 1.12 |
| 166 | Non-immune hydrops fetalis | Enrichment | HRAS | 1.09 |
| 167 | Lung cancer | Enrichment | PIK3CA | 1.08 |
| 168 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.06 |
| 169 | Severe combined immunodeficiency | Enrichment | LCK | 1.06 |
| 170 | Left ventricular noncompaction | Enrichment | RAF1 | 1.04 |
| 171 | Cerebral palsy | Enrichment | PDGFRB | 0.99 |
| 172 | Gastric cancer | Enrichment | PIK3CA | 0.95 |
| 173 | Sensorineural hearing loss | Enrichment | RET | 0.91 |
| 174 | Thrombocytopenia | Enrichment | SRC | 0.91 |
| 175 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.87 |
| 176 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.71 |
| 177 | Complex neurodevelopmental disorder | Enrichment | TIAM1 | 0.54 |
| 178 | Inherited cancer-predisposing syndrome | Enrichment | RET | 0.52 |