| 1 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 6.31 |
| 2 | Colorectal cancer | Enrichment | MET, PIK3CA, PIK3R1 | 5.30 |
| 3 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, STAT3 | 4.62 |
| 4 | Hepatocellular carcinoma | Enrichment | MET, PIK3CA | 4.43 |
| 5 | Lung cancer | Enrichment | MET, PIK3CA | 4.09 |
| 6 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 3.92 |
| 7 | Lung squamous cell carcinoma | Enrichment | EGFR, PIK3CA | 3.92 |
| 8 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 3.65 |
| 9 | Permanent neonatal diabetes mellitus | Enrichment | INS, STAT3 | 3.65 |
| 10 | Adult hepatocellular carcinoma | Enrichment | EGF, PIK3CA | 3.54 |
| 11 | Lung non-small cell carcinoma | Enrichment | EGFR, PIK3CA | 3.36 |
| 12 | Macrodactyly | Enrichment | PIK3CA | 3.35 |
| 13 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 3.35 |
| 14 | Deafness, autosomal recessive 39 | Enrichment | HGF | 3.35 |
| 15 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 3.35 |
| 16 | Cowden syndrome 5 | Enrichment | PIK3CA | 3.35 |
| 17 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 3.35 |
| 18 | Short syndrome | Enrichment | PIK3R1 | 3.35 |
| 19 | Osteofibrous dysplasia | Enrichment | MET | 3.35 |
| 20 | Deafness, autosomal recessive 97 | Enrichment | MET | 3.35 |
| 21 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 3.35 |
| 22 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 3.35 |
| 23 | Autism 9 | Enrichment | MET | 3.35 |
| 24 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 3.35 |
| 25 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 3.35 |
| 26 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 3.35 |
| 27 | Arthrogryposis, distal, type 11 | Enrichment | MET | 3.35 |
| 28 | Hypospadias | Enrichment | PIK3CA | 3.35 |
| 29 | Rare venous malformation | Enrichment | PIK3CA | 3.35 |
| 30 | Diaphragmatic eventration | Enrichment | PIK3CA | 3.35 |
| 31 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 3.35 |
| 32 | Rare combined vascular malformation | Enrichment | PIK3CA | 3.35 |
| 33 | Cavernous lymphangioma | Enrichment | PIK3CA | 3.35 |
| 34 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 3.35 |
| 35 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 3.35 |
| 36 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 3.35 |
| 37 | Macrodactyly of toe | Enrichment | PIK3CA | 3.35 |
| 38 | Meningioma | Enrichment | PDGFB, PIK3CA | 3.28 |
| 39 | Lip and oral cavity carcinoma | Enrichment | EGFR, PIK3CA | 3.28 |
| 40 | Acute promyelocytic leukemia | Enrichment | STAT3, STAT5B | 3.21 |
| 41 | Nk-cell enteropathy | Enrichment | JAK3, PIK3CB | 3.21 |
| 42 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF, MET | 3.20 |
| 43 | Ovarian cancer | Enrichment | MET, PIK3CA | 3.09 |
| 44 | Keratosis, seborrheic | Enrichment | PIK3CA | 3.05 |
| 45 | Noonan syndrome 8 | Enrichment | PIK3CA | 3.05 |
| 46 | Childhood hepatocellular carcinoma | Enrichment | MET | 3.05 |
| 47 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 3.05 |
| 48 | Papillary renal cell carcinoma | Enrichment | MET | 3.05 |
| 49 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.88 |
| 50 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.88 |
| 51 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.88 |
| 52 | Renal cell carcinoma | Enrichment | MET | 2.88 |
| 53 | Keratoacanthoma | Enrichment | PIK3CA | 2.88 |
| 54 | Diffuse large b-cell lymphoma | Enrichment | CREBBP, STAT3 | 2.87 |
| 55 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.75 |
| 56 | Cerebrovascular disease | Enrichment | PIK3CA | 2.75 |
| 57 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.75 |
| 58 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.66 |
| 59 | Hemimegalencephaly | Enrichment | PIK3CA | 2.66 |
| 60 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 2.58 |
| 61 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 2.58 |
| 62 | Breast adenocarcinoma | Enrichment | PIK3CA | 2.58 |
| 63 | Donohue syndrome | Enrichment | INSR | 2.54 |
| 64 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.54 |
| 65 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 2.54 |
| 66 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 2.54 |
| 67 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.54 |
| 68 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 2.54 |
| 69 | Noonan syndrome 4 | Enrichment | SOS1 | 2.54 |
| 70 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.54 |
| 71 | Seckel syndrome 1 | Enrichment | ATR | 2.54 |
| 72 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.54 |
| 73 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.54 |
| 74 | Hyper-ige syndrome 6, autosomal dominant, with recurrent infections | Enrichment | STAT6 | 2.54 |
| 75 | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | Enrichment | EIF2AK2 | 2.54 |
| 76 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.54 |
| 77 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.54 |
| 78 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 2.54 |
| 79 | Immunodeficiency 31a | Enrichment | STAT1 | 2.54 |
| 80 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.54 |
| 81 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.54 |
| 82 | Immunodeficiency 31b | Enrichment | STAT1 | 2.54 |
| 83 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.54 |
| 84 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.54 |
| 85 | Thrombocytopenia 6 | Enrichment | SRC | 2.54 |
| 86 | Dystonia 33 | Enrichment | EIF2AK2 | 2.54 |
| 87 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.54 |
| 88 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | Enrichment | CSF1R | 2.54 |
| 89 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.54 |
| 90 | Tufted angioma of skin | Enrichment | KDR | 2.54 |
| 91 | T-b+ severe combined immunodeficiency due to jak3 deficiency | Enrichment | JAK3 | 2.54 |
| 92 | Csf1r-related disorder | Enrichment | CSF1R | 2.54 |
| 93 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.54 |
| 94 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.54 |
| 95 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.54 |
| 96 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | Enrichment | CSF1R | 2.54 |
| 97 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 2.54 |
| 98 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.54 |
| 99 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.54 |
| 100 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.54 |
| 101 | Nevus, epidermal | Enrichment | PIK3CA | 2.51 |
| 102 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 2.51 |
| 103 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 2.51 |
| 104 | Gallbladder cancer | Enrichment | PIK3CA | 2.51 |
| 105 | Overgrowth syndrome | Enrichment | PIK3R1 | 2.51 |
| 106 | Bladder cancer | Enrichment | EGFR, PIK3CA | 2.51 |
| 107 | Arthrogryposis, distal, type 1a | Enrichment | MET | 2.45 |
| 108 | Arteriovenous malformation | Enrichment | PIK3CA | 2.40 |
| 109 | Cowden syndrome | Enrichment | PIK3CA | 2.40 |
| 110 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 2.35 |
| 111 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 2.35 |
| 112 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.24 |
| 113 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.24 |
| 114 | Hemangiopericytoma, malignant | Enrichment | STAT6 | 2.24 |
| 115 | Thumb deformity | Enrichment | CREBBP | 2.24 |
| 116 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.24 |
| 117 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 2.24 |
| 118 | Pulmonic stenosis | Enrichment | SOS1 | 2.24 |
| 119 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 2.24 |
| 120 | Angioma, tufted | Enrichment | KDR | 2.24 |
| 121 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 2.24 |
| 122 | Immunodeficiency 31c | Enrichment | STAT1 | 2.24 |
| 123 | Hyperproinsulinemia | Enrichment | INS | 2.24 |
| 124 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.24 |
| 125 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.24 |
| 126 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 2.24 |
| 127 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.24 |
| 128 | Combined deficiency of factor v and factor viii | Enrichment | LMAN1 | 2.24 |
| 129 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.24 |
| 130 | Type 2 diabetes mellitus | Enrichment | INSR, PTPN1 | 2.19 |
| 131 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 2.18 |
| 132 | Lynch syndrome | Enrichment | PIK3CA | 2.18 |
| 133 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | JAK3 | 2.07 |
| 134 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.07 |
| 135 | Type 1 diabetes mellitus 2 | Enrichment | INS | 2.07 |
| 136 | Leukoencephalopathy, hereditary diffuse, with spheroids 1 | Enrichment | CSF1R | 2.07 |
| 137 | Factor v and factor viii, combined deficiency of, 1 | Enrichment | LMAN1 | 2.07 |
| 138 | Nuchal bleb, familial | Enrichment | SOS1 | 2.07 |
| 139 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.07 |
| 140 | Tethered spinal cord syndrome | Enrichment | CREBBP | 2.07 |
| 141 | Hyper ige syndrome | Enrichment | STAT3 | 2.07 |
| 142 | Torsion dystonia 1 | Enrichment | EIF2AK2 | 2.07 |
| 143 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 2.07 |
| 144 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.07 |
| 145 | Endometrial cancer | Enrichment | PIK3CA | 2.03 |
| 146 | Neonatal diabetes mellitus | Enrichment | INS | 1.94 |
| 147 | Adenosine deaminase deficiency | Enrichment | JAK3 | 1.94 |
| 148 | Gingival fibromatosis | Enrichment | SOS1 | 1.94 |
| 149 | Prostate cancer | Enrichment | PIK3CA | 1.89 |
| 150 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | JAK3 | 1.84 |
| 151 | Primary hypereosinophilic syndrome | Enrichment | PDGFRB | 1.84 |
| 152 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP | 1.77 |
| 153 | Type 1 diabetes mellitus | Enrichment | INS | 1.77 |
| 154 | Hemangioma, capillary infantile | Enrichment | KDR | 1.77 |
| 155 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP | 1.77 |
| 156 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.77 |
| 157 | Hypertrichosis | Enrichment | CREBBP | 1.77 |
| 158 | 46,xy disorder of sex development | Enrichment | INSR | 1.77 |
| 159 | Gastric cancer | Enrichment | PIK3CA | 1.72 |
| 160 | Hereditary breast carcinoma | Enrichment | PIK3CA | 1.71 |
| 161 | Breast cancer | Enrichment | PIK3CA, SHC1 | 1.71 |
| 162 | Myelofibrosis | Enrichment | SRC | 1.70 |
| 163 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.70 |
| 164 | Noonan syndrome 3 | Enrichment | SOS1 | 1.70 |
| 165 | Oligoarticular juvenile idiopathic arthritis | Enrichment | PTPN2 | 1.70 |
| 166 | Rheumatoid factor-negative juvenile idiopathic arthritis | Enrichment | PTPN2 | 1.70 |
| 167 | Sensorineural hearing loss | Enrichment | HGF | 1.68 |
| 168 | Hypertelorism | Enrichment | PIK3CA | 1.64 |
| 169 | Frontotemporal dementia 1 | Enrichment | CSF1R | 1.51 |
| 170 | Meningioma, familial | Enrichment | PDGFB | 1.51 |
| 171 | Diabetes mellitus | Enrichment | INS | 1.51 |
| 172 | Aortic valve disease 1 | Enrichment | SOS1 | 1.43 |
| 173 | Neural tube defects | Enrichment | ITGB1 | 1.43 |
| 174 | Alzheimer's disease | Enrichment | CSF1R | 1.43 |
| 175 | Osteoporosis | Enrichment | SRC | 1.40 |
| 176 | Lung cancer susceptibility 3 | Enrichment | EGFR | 1.40 |
| 177 | Seckel syndrome | Enrichment | ATR | 1.40 |
| 178 | Heart disease | Enrichment | CREBBP | 1.40 |
| 179 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.40 |
| 180 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.37 |
| 181 | Hydrocephalus | Enrichment | PDGFRB | 1.37 |
| 182 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.37 |
| 183 | Rare genetic intellectual disability | Enrichment | CREBBP | 1.37 |
| 184 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.37 |
| 185 | Noonan syndrome and noonan-related syndrome | Enrichment | SOS1 | 1.37 |
| 186 | Gliosarcoma | Enrichment | EGFR | 1.35 |
| 187 | Alzheimer disease, familial, 1 | Enrichment | CSF1R | 1.32 |
| 188 | Dandy-walker syndrome | Enrichment | PDGFRB | 1.32 |
| 189 | Giant cell glioblastoma | Enrichment | EGFR | 1.32 |
| 190 | Arteriovenous malformations of the brain | Enrichment | EGFR | 1.27 |
| 191 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, MET | 1.26 |
| 192 | Maturity-onset diabetes of the young | Enrichment | INS | 1.25 |
| 193 | Noonan syndrome 1 | Enrichment | SOS1 | 1.19 |
| 194 | Scoliosis | Enrichment | CREBBP | 1.18 |
| 195 | Tetralogy of fallot | Enrichment | KDR | 1.14 |
| 196 | Rasopathy | Enrichment | SOS1 | 1.14 |
| 197 | Severe covid-19 | Enrichment | JAK3 | 1.10 |
| 198 | Nephronophthisis | Enrichment | PIAS1 | 1.04 |
| 199 | Severe combined immunodeficiency | Enrichment | JAK3 | 1.04 |
| 200 | Cerebral palsy | Enrichment | PDGFRB | 0.97 |
| 201 | Thrombocytopenia | Enrichment | SRC | 0.89 |
| 202 | Myeloma, multiple | Enrichment | CREBBP | 0.83 |
| 203 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CSF1R | 0.81 |
| 204 | Primary ovarian insufficiency | Enrichment | KDR | 0.81 |
| 205 | Autism | Enrichment | CREBBP | 0.73 |
| 206 | Congenital nervous system abnormality | Enrichment | CREBBP | 0.58 |
| 207 | Nervous system disease | Enrichment | CREBBP | 0.58 |