| 1 | Oligoarticular juvenile idiopathic arthritis | Enrichment | CD247, IL2RA, IL2RB, STAT4 | 8.44 |
| 2 | Rheumatoid factor-negative juvenile idiopathic arthritis | Enrichment | CD247, IL2RA, IL2RB, STAT4 | 8.44 |
| 3 | T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta | Enrichment | CD247, CD3D, CD3E | 7.47 |
| 4 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, MAP2K1, RAF1 | 6.88 |
| 5 | Noonan syndrome 1 | Enrichment | BRAF, MAP2K1, RAF1 | 6.29 |
| 6 | Rasopathy | Enrichment | BRAF, MAP2K1, RAF1 | 6.13 |
| 7 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 5.83 |
| 8 | Lymphoma, non-hodgkin, familial | Enrichment | B2M, BRAF, PRF1 | 5.72 |
| 9 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, MAP2K1 | 5.53 |
| 10 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, MAP2K1 | 5.53 |
| 11 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 5.53 |
| 12 | Severe combined immunodeficiency | Enrichment | CD247, CD3D, CD3E, CD3G | 5.39 |
| 13 | Lung non-small cell carcinoma | Enrichment | BRAF, MAP2K1, PIK3CA | 5.26 |
| 14 | Pilomyxoid astrocytoma | Enrichment | BRAF, RAF1 | 4.99 |
| 15 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, RAF1 | 4.86 |
| 16 | Idiopathic aplastic anemia | Enrichment | IFNG, PRF1 | 3.97 |
| 17 | Lung cancer | Enrichment | BRAF, FASLG, PIK3CA | 3.80 |
| 18 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 3.65 |
| 19 | Gallbladder cancer | Enrichment | BRAF, PIK3CA | 3.65 |
| 20 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA | 3.42 |
| 21 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA | 3.32 |
| 22 | Aplastic anemia | Enrichment | IFNG, PRF1 | 3.32 |
| 23 | Lip and oral cavity carcinoma | Enrichment | BRAF, PIK3CA | 3.16 |
| 24 | Noonan syndrome 5 | Enrichment | RAF1 | 3.13 |
| 25 | Melorheostosis, isolated | Enrichment | MAP2K1 | 3.13 |
| 26 | Noonan syndrome 7 | Enrichment | BRAF | 3.13 |
| 27 | Leopard syndrome 3 | Enrichment | BRAF | 3.13 |
| 28 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 3.13 |
| 29 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 3.13 |
| 30 | Lymphangioma | Enrichment | BRAF | 3.13 |
| 31 | Phace association | Enrichment | BRAF | 3.13 |
| 32 | Melorheostosis | Enrichment | MAP2K1 | 3.13 |
| 33 | Leopard syndrome 2 | Enrichment | RAF1 | 3.13 |
| 34 | Trigonitis | Enrichment | RAF1 | 3.13 |
| 35 | Syringocystadenoma papilliferum | Enrichment | BRAF | 3.13 |
| 36 | Ganglioglioma | Enrichment | BRAF | 3.13 |
| 37 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 3.13 |
| 38 | Phace syndrome | Enrichment | BRAF | 3.13 |
| 39 | Classic hairy cell leukemia | Enrichment | BRAF | 3.13 |
| 40 | Pulmonic stenosis | Enrichment | BRAF | 2.83 |
| 41 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 2.82 |
| 42 | Breast cancer | Enrichment | IL2, JUN, PIK3CA | 2.71 |
| 43 | Ataxia-telangiectasia | Enrichment | BRAF | 2.66 |
| 44 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.66 |
| 45 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 2.53 |
| 46 | Congenital generalized lipodystrophy | Enrichment | FOS | 2.53 |
| 47 | Craniopharyngioma | Enrichment | BRAF | 2.53 |
| 48 | Newborn respiratory distress syndrome | Enrichment | BRAF | 2.53 |
| 49 | Macrodactyly | Enrichment | PIK3CA | 2.48 |
| 50 | Type 1 diabetes mellitus 10 | Enrichment | IL2RA | 2.48 |
| 51 | Hemophagocytic lymphohistiocytosis, familial, 2 | Enrichment | PRF1 | 2.48 |
| 52 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.48 |
| 53 | Immunodeficiency 16 | Enrichment | TNFRSF4 | 2.48 |
| 54 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.48 |
| 55 | Immunodeficiency 116 | Enrichment | CD8A | 2.48 |
| 56 | Immunodeficiency 43 | Enrichment | B2M | 2.48 |
| 57 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.48 |
| 58 | Immunodeficiency 69 | Enrichment | IFNG | 2.48 |
| 59 | Immunodeficiency 106 viral infections | Enrichment | IFNAR1 | 2.48 |
| 60 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | Enrichment | IL2RB | 2.48 |
| 61 | Disabling pansclerotic morphea of childhood | Enrichment | STAT4 | 2.48 |
| 62 | Immunodeficiency 18 | Enrichment | CD3E | 2.48 |
| 63 | Systemic lupus erythematosus 11 | Enrichment | STAT4 | 2.48 |
| 64 | Dialysis-related amyloidosis | Enrichment | B2M | 2.48 |
| 65 | Immunodeficiency 25 | Enrichment | CD247 | 2.48 |
| 66 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.48 |
| 67 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.48 |
| 68 | Birdshot chorioretinopathy | Enrichment | HLA-A | 2.48 |
| 69 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.48 |
| 70 | Amyloidosis, hereditary systemic 6 | Enrichment | B2M | 2.48 |
| 71 | Immunodeficiency 19, severe combined | Enrichment | CD3D | 2.48 |
| 72 | Immunodeficiency 109 with lymphoproliferation | Enrichment | TNFRSF9 | 2.48 |
| 73 | Hypospadias | Enrichment | PIK3CA | 2.48 |
| 74 | Rare venous malformation | Enrichment | PIK3CA | 2.48 |
| 75 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.48 |
| 76 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.48 |
| 77 | Immunodeficiency 19 | Enrichment | CD3D | 2.48 |
| 78 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.48 |
| 79 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.48 |
| 80 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.48 |
| 81 | Fatal post-viral neurodegenerative disorder | Enrichment | PRF1 | 2.48 |
| 82 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.48 |
| 83 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.48 |
| 84 | Macrodactyly of toe | Enrichment | PIK3CA | 2.48 |
| 85 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | Enrichment | EOMES | 2.48 |
| 86 | Histiocytoid hemangioma | Enrichment | FOS | 2.43 |
| 87 | Wilms tumor 5 | Enrichment | BRAF | 2.35 |
| 88 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF | 2.29 |
| 89 | Noonan syndrome 3 | Enrichment | RAF1 | 2.29 |
| 90 | Follicular thyroid carcinoma | Enrichment | BRAF | 2.29 |
| 91 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 2.18 |
| 92 | Primary hyperaldosteronism | Enrichment | BRAF | 2.18 |
| 93 | Ventricular septal defect | Enrichment | BRAF | 2.18 |
| 94 | Severe cutaneous adverse reaction | Enrichment | HLA-A | 2.18 |
| 95 | Immunodeficiency 41 with lymphoproliferation and autoimmunity | Enrichment | IL2RA | 2.18 |
| 96 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.18 |
| 97 | Immunodeficiency 45 | Enrichment | IFNAR2 | 2.18 |
| 98 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.18 |
| 99 | Immunodeficiency 127 | Enrichment | TNF | 2.18 |
| 100 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.18 |
| 101 | Immunodeficiency 17 | Enrichment | CD3G | 2.18 |
| 102 | Joint contractures, osteochondromas, and b-cell lymphoma | Enrichment | NFATC2 | 2.18 |
| 103 | Melanoma | Enrichment | BRAF | 2.13 |
| 104 | Systemic lupus erythematosus | Enrichment | STAT4, TNF | 2.13 |
| 105 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.00 |
| 106 | Tuberous sclerosis 1 | Enrichment | IFNG | 2.00 |
| 107 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | FASLG | 2.00 |
| 108 | Severe combined immunodeficiency, x-linked | Enrichment | IL2RG | 2.00 |
| 109 | Combined immunodeficiency, x-linked | Enrichment | IL2RG | 2.00 |
| 110 | Psoriatic arthritis | Enrichment | TNF | 2.00 |
| 111 | Hepatitis c virus | Enrichment | IFNG | 2.00 |
| 112 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 2.00 |
| 113 | Tuberous sclerosis 2 | Enrichment | IFNG | 2.00 |
| 114 | Migraine without aura | Enrichment | TNF | 2.00 |
| 115 | Immunodeficiency 44 | Enrichment | IFNAR2 | 2.00 |
| 116 | Keratoacanthoma | Enrichment | PIK3CA | 2.00 |
| 117 | Lung cancer susceptibility 3 | Enrichment | BRAF | 1.99 |
| 118 | Wilms tumor 1 | Enrichment | BRAF | 1.96 |
| 119 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.90 |
| 120 | Dandy-walker syndrome | Enrichment | BRAF | 1.90 |
| 121 | Autoimmune lymphoproliferative syndrome | Enrichment | FASLG | 1.88 |
| 122 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.88 |
| 123 | Hepatitis b | Enrichment | IFNAR2 | 1.88 |
| 124 | Cerebrovascular disease | Enrichment | PIK3CA | 1.88 |
| 125 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.88 |
| 126 | Cerebral malaria | Enrichment | TNF | 1.88 |
| 127 | Immunodeficiency by defective expression of mhc class i | Enrichment | B2M | 1.88 |
| 128 | Pediatric systemic lupus erythematosus | Enrichment | STAT4 | 1.88 |
| 129 | Arteriovenous malformations of the brain | Enrichment | BRAF | 1.86 |
| 130 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 1.86 |
| 131 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.78 |
| 132 | Amyloidosis, hereditary systemic 2 | Enrichment | B2M | 1.78 |
| 133 | Hemophagocytic lymphohistiocytosis, familial, 1 | Enrichment | PRF1 | 1.78 |
| 134 | Vascular dementia | Enrichment | TNF | 1.78 |
| 135 | Hemimegalencephaly | Enrichment | PIK3CA | 1.78 |
| 136 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.76 |
| 137 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.70 |
| 138 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.70 |
| 139 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.70 |
| 140 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.70 |
| 141 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.70 |
| 142 | Differentiated thyroid carcinoma | Enrichment | BRAF | 1.67 |
| 143 | Nevus, epidermal | Enrichment | PIK3CA | 1.64 |
| 144 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.62 |
| 145 | Left ventricular noncompaction | Enrichment | RAF1 | 1.59 |
| 146 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.53 |
| 147 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.53 |
| 148 | Cowden syndrome | Enrichment | PIK3CA | 1.53 |
| 149 | Omenn syndrome | Enrichment | IL2RG | 1.49 |
| 150 | Colorectal cancer | Enrichment | BRAF, PIK3CA | 1.47 |
| 151 | Asthma | Enrichment | TNF | 1.44 |
| 152 | Combined immunodeficiency | Enrichment | IL2RG | 1.44 |
| 153 | Ichthyosis | Enrichment | IL2RB | 1.44 |
| 154 | Combined t cell and b cell immunodeficiency | Enrichment | IL2RG | 1.44 |
| 155 | Combined t and b cell immunodeficiency | Enrichment | IL2RG | 1.44 |
| 156 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 1.42 |
| 157 | Meningioma | Enrichment | PIK3CA | 1.41 |
| 158 | Myeloma, multiple | Enrichment | BRAF | 1.39 |
| 159 | Alzheimer's disease | Enrichment | TNF | 1.37 |
| 160 | Lynch syndrome | Enrichment | PIK3CA | 1.31 |
| 161 | Human immunodeficiency virus type 1 | Enrichment | IFNG | 1.24 |
| 162 | Behcet syndrome | Enrichment | STAT4 | 1.21 |
| 163 | Cardiomyopathy, dilated, 1a | Enrichment | NFATC2 | 1.17 |
| 164 | Endometrial cancer | Enrichment | PIK3CA | 1.17 |
| 165 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.15 |
| 166 | Multisystem inflammatory syndrome in children | Enrichment | IFNAR2 | 1.15 |
| 167 | Malaria | Enrichment | TNF | 1.13 |
| 168 | Autoinflammatory disease | Enrichment | PRF1 | 1.12 |
| 169 | Autism spectrum disorder | Enrichment | MAP2K1 | 1.11 |
| 170 | Bladder cancer | Enrichment | PIK3CA | 1.04 |
| 171 | Prostate cancer | Enrichment | PIK3CA | 1.04 |
| 172 | Severe covid-19 | Enrichment | HLA-A | 1.04 |
| 173 | Gastric cancer | Enrichment | PIK3CA | 0.88 |
| 174 | Hereditary breast carcinoma | Enrichment | PIK3CA | 0.87 |
| 175 | Hypertelorism | Enrichment | PIK3CA | 0.80 |
| 176 | Ovarian cancer | Enrichment | PIK3CA | 0.54 |