| 1 | Meningioma | Enrichment | AKT1, PDGFB, PIK3CA | 5.10 |
| 2 | Lip and oral cavity carcinoma | Enrichment | ABL1, EGFR, PIK3CA | 5.10 |
| 3 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3, STAT3 | 4.47 |
| 4 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGA2B, ITGB3 | 4.47 |
| 5 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.47 |
| 6 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2, STAT3 | 4.47 |
| 7 | Leptin deficiency or dysfunction | Enrichment | LEP, LEPR | 4.17 |
| 8 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 3.78 |
| 9 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.78 |
| 10 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2B, ITGB3 | 3.78 |
| 11 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.78 |
| 12 | Lung squamous cell carcinoma | Enrichment | EGFR, PIK3CA | 3.78 |
| 13 | Colorectal cancer | Enrichment | AKT1, PIK3CA, PIK3R1, SRC | 3.68 |
| 14 | Myelofibrosis | Enrichment | JAK2, SRC | 3.63 |
| 15 | Glanzmann thrombasthenia 1 | Enrichment | ITGA2B, ITGB3 | 3.63 |
| 16 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 3.51 |
| 17 | Permanent neonatal diabetes mellitus | Enrichment | INS, STAT3 | 3.51 |
| 18 | Type 2 diabetes mellitus | Enrichment | INSR, IRS1, PTPN1 | 3.42 |
| 19 | Adult hepatocellular carcinoma | Enrichment | EGF, PIK3CA | 3.40 |
| 20 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.40 |
| 21 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGA2B, ITGB3 | 3.30 |
| 22 | Thrombocytopenia | Enrichment | ITGA2B, ITGB3, SRC | 3.25 |
| 23 | Lung non-small cell carcinoma | Enrichment | EGFR, PIK3CA | 3.22 |
| 24 | Acute promyelocytic leukemia | Enrichment | STAT3, STAT5B | 3.07 |
| 25 | Arteriovenous malformations of the brain | Enrichment | CDH2, EGFR | 2.73 |
| 26 | Breast cancer | Enrichment | AKT1, PIK3CA, SHC1 | 2.68 |
| 27 | Macrodactyly | Enrichment | PIK3CA | 2.47 |
| 28 | Proteus syndrome | Enrichment | AKT1 | 2.47 |
| 29 | Donohue syndrome | Enrichment | INSR | 2.47 |
| 30 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.47 |
| 31 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 2.47 |
| 32 | Immunodeficiency 35 | Enrichment | TYK2 | 2.47 |
| 33 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 2.47 |
| 34 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.47 |
| 35 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 2.47 |
| 36 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.47 |
| 37 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.47 |
| 38 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 2.47 |
| 39 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.47 |
| 40 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.47 |
| 41 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.47 |
| 42 | Multiple fibroadenomas of the breast | Enrichment | PRLR | 2.47 |
| 43 | Iga nephropathy 3 | Enrichment | SPRY2 | 2.47 |
| 44 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.47 |
| 45 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.47 |
| 46 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.47 |
| 47 | Short syndrome | Enrichment | PIK3R1 | 2.47 |
| 48 | Fetomaternal alloimmune thrombocytopenia 2 | Enrichment | ITGA2B | 2.47 |
| 49 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.47 |
| 50 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.47 |
| 51 | Hyperprolactinemia | Enrichment | PRLR | 2.47 |
| 52 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.47 |
| 53 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.47 |
| 54 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.47 |
| 55 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.47 |
| 56 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.47 |
| 57 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.47 |
| 58 | Cowden syndrome 6 | Enrichment | AKT1 | 2.47 |
| 59 | Hyperparathyroidism | Enrichment | TRPV6 | 2.47 |
| 60 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.47 |
| 61 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.47 |
| 62 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.47 |
| 63 | Leptin receptor deficiency | Enrichment | LEPR | 2.47 |
| 64 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.47 |
| 65 | Thrombocytopenia 6 | Enrichment | SRC | 2.47 |
| 66 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.47 |
| 67 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | Enrichment | CSF1R | 2.47 |
| 68 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.47 |
| 69 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.47 |
| 70 | Hyperparathyroidism, transient neonatal | Enrichment | TRPV6 | 2.47 |
| 71 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.47 |
| 72 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.47 |
| 73 | Csf1r-related disorder | Enrichment | CSF1R | 2.47 |
| 74 | Hypospadias | Enrichment | PIK3CA | 2.47 |
| 75 | Familial hyperprolactinemia | Enrichment | PRLR | 2.47 |
| 76 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.47 |
| 77 | Rare venous malformation | Enrichment | PIK3CA | 2.47 |
| 78 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.47 |
| 79 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.47 |
| 80 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | Enrichment | CSF1R | 2.47 |
| 81 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.47 |
| 82 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.47 |
| 83 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.47 |
| 84 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.47 |
| 85 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.47 |
| 86 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.47 |
| 87 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.47 |
| 88 | Macrodactyly of toe | Enrichment | PIK3CA | 2.47 |
| 89 | Bladder cancer | Enrichment | EGFR, PIK3CA | 2.37 |
| 90 | Ovarian cancer | Enrichment | AKT1, EGFR, PIK3CA | 2.32 |
| 91 | Lung cancer | Enrichment | EGFR, PIK3CA | 2.28 |
| 92 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.17 |
| 93 | Hyperparathyroidism, neonatal severe | Enrichment | TRPV6 | 2.17 |
| 94 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.17 |
| 95 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 2.17 |
| 96 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 2.17 |
| 97 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.17 |
| 98 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 2.17 |
| 99 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.17 |
| 100 | Thrombocythemia 3 | Enrichment | JAK2 | 2.17 |
| 101 | Spastic paraplegia 76, autosomal recessive | Enrichment | CAPN1 | 2.17 |
| 102 | Albinism, oculocutaneous, type ia | Enrichment | NOX4 | 2.17 |
| 103 | Myopia 28, autosomal recessive | Enrichment | DOK1 | 2.17 |
| 104 | Hyperproinsulinemia | Enrichment | INS | 2.17 |
| 105 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.17 |
| 106 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.17 |
| 107 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.17 |
| 108 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 2.17 |
| 109 | Polycythemia | Enrichment | JAK2 | 2.17 |
| 110 | Immunodeficiency 52 | Enrichment | LAT | 2.17 |
| 111 | Lymphomatoid papulosis | Enrichment | TYK2 | 2.17 |
| 112 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.17 |
| 113 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.17 |
| 114 | Primary cutaneous anaplastic large cell lymphoma | Enrichment | TYK2 | 2.17 |
| 115 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 2.01 |
| 116 | Type 1 diabetes mellitus 2 | Enrichment | INS | 1.99 |
| 117 | Polycythemia vera | Enrichment | JAK2 | 1.99 |
| 118 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.99 |
| 119 | Leukoencephalopathy, hereditary diffuse, with spheroids 1 | Enrichment | CSF1R | 1.99 |
| 120 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.99 |
| 121 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.99 |
| 122 | Hyper ige syndrome | Enrichment | STAT3 | 1.99 |
| 123 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.99 |
| 124 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.99 |
| 125 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.99 |
| 126 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.99 |
| 127 | Keratoacanthoma | Enrichment | PIK3CA | 1.99 |
| 128 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.87 |
| 129 | Budd-chiari syndrome | Enrichment | JAK2 | 1.87 |
| 130 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.87 |
| 131 | Bone mineral density quantitative trait locus 15 | Enrichment | TRPV6 | 1.87 |
| 132 | Neonatal diabetes mellitus | Enrichment | INS | 1.87 |
| 133 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 1.87 |
| 134 | Cerebrovascular disease | Enrichment | PIK3CA | 1.87 |
| 135 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.87 |
| 136 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.77 |
| 137 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.77 |
| 138 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.77 |
| 139 | Hemimegalencephaly | Enrichment | PIK3CA | 1.77 |
| 140 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1 | 1.77 |
| 141 | Primary hypereosinophilic syndrome | Enrichment | PDGFRB | 1.77 |
| 142 | Primary ovarian insufficiency | Enrichment | JAK2, PRLR | 1.77 |
| 143 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.70 |
| 144 | Type 1 diabetes mellitus | Enrichment | INS | 1.70 |
| 145 | Limited scleroderma | Enrichment | CAV1 | 1.70 |
| 146 | 46,xy disorder of sex development | Enrichment | INSR | 1.70 |
| 147 | Nevus, epidermal | Enrichment | PIK3CA | 1.63 |
| 148 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.63 |
| 149 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.63 |
| 150 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.63 |
| 151 | Essential thrombocythemia | Enrichment | JAK2 | 1.63 |
| 152 | Gallbladder cancer | Enrichment | PIK3CA | 1.63 |
| 153 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.63 |
| 154 | Moyamoya angiopathy | Enrichment | ABL1 | 1.63 |
| 155 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1 | 1.63 |
| 156 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.52 |
| 157 | Arteriovenous malformation | Enrichment | PIK3CA | 1.52 |
| 158 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.48 |
| 159 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.48 |
| 160 | Frontotemporal dementia 1 | Enrichment | CSF1R | 1.44 |
| 161 | Meningioma, familial | Enrichment | PDGFB | 1.44 |
| 162 | Diabetes mellitus | Enrichment | INS | 1.44 |
| 163 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.44 |
| 164 | Alzheimer's disease | Enrichment | CSF1R | 1.36 |
| 165 | Osteoporosis | Enrichment | SRC | 1.33 |
| 166 | Lung cancer susceptibility 3 | Enrichment | EGFR | 1.33 |
| 167 | Heart disease | Enrichment | ABL1 | 1.33 |
| 168 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2 | 1.33 |
| 169 | Corpus callosum, agenesis of | Enrichment | CDH2 | 1.30 |
| 170 | Hydrocephalus | Enrichment | PDGFRB | 1.30 |
| 171 | Lynch syndrome | Enrichment | PIK3CA | 1.30 |
| 172 | Isolated corpus callosum agenesis | Enrichment | CDH2 | 1.30 |
| 173 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2 | 1.30 |
| 174 | Gliosarcoma | Enrichment | EGFR | 1.28 |
| 175 | Alzheimer disease, familial, 1 | Enrichment | CSF1R | 1.25 |
| 176 | Pancreatitis, hereditary | Enrichment | TRPV6 | 1.25 |
| 177 | Dandy-walker syndrome | Enrichment | PDGFRB | 1.25 |
| 178 | Giant cell glioblastoma | Enrichment | EGFR | 1.25 |
| 179 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 1.20 |
| 180 | Maturity-onset diabetes of the young | Enrichment | INS | 1.18 |
| 181 | Endometrial cancer | Enrichment | PIK3CA | 1.16 |
| 182 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.14 |
| 183 | Myocardial infarction | Enrichment | ITGB3 | 1.14 |
| 184 | Malaria | Enrichment | FCGR2A | 1.12 |
| 185 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.12 |
| 186 | Auditory neuropathy | Enrichment | CDH2 | 1.07 |
| 187 | Prostate cancer | Enrichment | PIK3CA | 1.03 |
| 188 | Cystic fibrosis | Enrichment | FCGR2A | 0.99 |
| 189 | Systemic lupus erythematosus | Enrichment | FCGR2A | 0.91 |
| 190 | Cerebral palsy | Enrichment | PDGFRB | 0.91 |
| 191 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.90 |
| 192 | Gastric cancer | Enrichment | PIK3CA | 0.87 |
| 193 | Body mass index quantitative trait locus 11 | Enrichment | LEPR | 0.81 |
| 194 | Hypertelorism | Enrichment | PIK3CA | 0.79 |
| 195 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1 | 0.77 |
| 196 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CSF1R | 0.75 |
| 197 | Microcephaly | Enrichment | ABL1 | 0.47 |
| 198 | Inherited cancer-predisposing syndrome | Enrichment | EGFR | 0.44 |