| 1 | Cowden syndrome | Enrichment | AKT1, PIK3CA, PTEN | 5.52 |
| 2 | Meningioma | Enrichment | AKT1, PIK3CA, PTEN | 5.10 |
| 3 | Hereditary breast carcinoma | Enrichment | AKT1, APC, PIK3CA, PTEN | 4.85 |
| 4 | Capillary malformations, congenital | Enrichment | GNAQ, PIK3CA | 3.95 |
| 5 | Hemimegalencephaly | Enrichment | PIK3CA, PTEN | 3.95 |
| 6 | Breast cancer | Enrichment | AKT1, APC, PIK3CA, PTEN | 3.93 |
| 7 | Prostate cancer | Enrichment | EPHB2, PIK3CA, PTEN | 3.90 |
| 8 | Klippel-trenaunay-weber syndrome | Enrichment | GNAQ, PIK3CA | 3.78 |
| 9 | Cowden syndrome 1 | Enrichment | PIK3CA, PTEN | 3.78 |
| 10 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.78 |
| 11 | Colorectal cancer | Enrichment | AKT1, APC, PIK3CA, SRC | 3.68 |
| 12 | Ovarian cancer | Enrichment | AKT1, APC, PIK3CA, PTEN | 3.43 |
| 13 | Gastric cancer | Enrichment | APC, PIK3CA, PTEN | 3.39 |
| 14 | Lip and oral cavity carcinoma | Enrichment | ABL1, PIK3CA | 3.14 |
| 15 | Diffuse large b-cell lymphoma | Enrichment | PTEN, STAT3 | 2.73 |
| 16 | Endometrial cancer | Enrichment | PIK3CA, PTEN | 2.64 |
| 17 | Hepatocellular carcinoma | Enrichment | APC, PIK3CA | 2.60 |
| 18 | Macrodactyly | Enrichment | PIK3CA | 2.47 |
| 19 | Proteus syndrome | Enrichment | AKT1 | 2.47 |
| 20 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.47 |
| 21 | Legius syndrome | Enrichment | SPRED1 | 2.47 |
| 22 | Night blindness, congenital stationary, autosomal dominant 1 | Enrichment | RHO | 2.47 |
| 23 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.47 |
| 24 | Deafness, autosomal dominant 1, with or without thrombocytopenia | Enrichment | DIAPH1 | 2.47 |
| 25 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.47 |
| 26 | Sturge-weber syndrome | Enrichment | GNAQ | 2.47 |
| 27 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.47 |
| 28 | Developmental delay with or without intellectual impairment or behavioral abnormalities | Enrichment | TAOK1 | 2.47 |
| 29 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.47 |
| 30 | Parkinson-dementia syndrome | Enrichment | MAPT | 2.47 |
| 31 | Intellectual developmental disorder, autosomal dominant 76 | Enrichment | MARK2 | 2.47 |
| 32 | Supranuclear palsy, progressive, 1 | Enrichment | MAPT | 2.47 |
| 33 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.47 |
| 34 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.47 |
| 35 | Nemaline myopathy 7 | Enrichment | CFL2 | 2.47 |
| 36 | Prostate cancer/brain cancer susceptibility | Enrichment | EPHB2 | 2.47 |
| 37 | Deafness, autosomal dominant 83 | Enrichment | MAP1B | 2.47 |
| 38 | Progressive supranuclear palsy | Enrichment | MAPT | 2.47 |
| 39 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.47 |
| 40 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.47 |
| 41 | Cowden syndrome 6 | Enrichment | AKT1 | 2.47 |
| 42 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.47 |
| 43 | Retinitis pigmentosa 4 | Enrichment | RHO | 2.47 |
| 44 | Glioma susceptibility 2 | Enrichment | PTEN | 2.47 |
| 45 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.47 |
| 46 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.47 |
| 47 | Bleeding disorder, platelet-type, 22 | Enrichment | EPHB2 | 2.47 |
| 48 | Thrombocytopenia 6 | Enrichment | SRC | 2.47 |
| 49 | Seizures, cortical blindness, and microcephaly syndrome | Enrichment | DIAPH1 | 2.47 |
| 50 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.47 |
| 51 | Diaph1-related sensorineural hearing loss-thrombocytopenia syndrome | Enrichment | DIAPH1 | 2.47 |
| 52 | Neurodevelopmental disorder with language delay and seizures | Enrichment | TIAM1 | 2.47 |
| 53 | Classic progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.47 |
| 54 | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | Enrichment | TRIO | 2.47 |
| 55 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.47 |
| 56 | Atypical progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.47 |
| 57 | Hypospadias | Enrichment | PIK3CA | 2.47 |
| 58 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.47 |
| 59 | Rare venous malformation | Enrichment | PIK3CA | 2.47 |
| 60 | Familial adenomatous polyposis | Enrichment | APC | 2.47 |
| 61 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.47 |
| 62 | Nocarh syndrome | Enrichment | CDC42 | 2.47 |
| 63 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.47 |
| 64 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.47 |
| 65 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.47 |
| 66 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.47 |
| 67 | Gardner syndrome | Enrichment | APC | 2.47 |
| 68 | 5q22 microdeletion syndrome | Enrichment | APC | 2.47 |
| 69 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.47 |
| 70 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.47 |
| 71 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.47 |
| 72 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.47 |
| 73 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.47 |
| 74 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.47 |
| 75 | Macrodactyly of toe | Enrichment | PIK3CA | 2.47 |
| 76 | Bladder cancer | Enrichment | PIK3CA, PTEN | 2.37 |
| 77 | Autism spectrum disorder | Enrichment | MAP1B, MARK2, PTEN | 2.22 |
| 78 | Microcephalic osteodysplastic primordial dwarfism, type i | Enrichment | CLASP1 | 2.17 |
| 79 | Lowry-wood syndrome | Enrichment | CLASP1 | 2.17 |
| 80 | Macroglossia | Enrichment | TAOK1 | 2.17 |
| 81 | Pick disease of brain | Enrichment | MAPT | 2.17 |
| 82 | Deafness, autosomal recessive 28 | Enrichment | TRIO | 2.17 |
| 83 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.17 |
| 84 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.17 |
| 85 | Roifman syndrome | Enrichment | CLASP1 | 2.17 |
| 86 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.17 |
| 87 | Dystonia 30 | Enrichment | PTPRA | 2.17 |
| 88 | Neuropathy, congenital hypomyelinating, 2 | Enrichment | RHO | 2.17 |
| 89 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.17 |
| 90 | Neurodevelopmental disorder with developmental delay and with or without motor or speech delay | Enrichment | TAOK1 | 2.17 |
| 91 | Periventricular nodular heterotopia 9 | Enrichment | MAP1B | 2.17 |
| 92 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.17 |
| 93 | Optic disk drusen | Enrichment | RHO | 2.17 |
| 94 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.17 |
| 95 | Periampullary adenoma | Enrichment | APC | 2.17 |
| 96 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 2.17 |
| 97 | Immune system disease | Enrichment | CDC42 | 2.17 |
| 98 | Rnu4atac-opathy | Enrichment | CLASP1 | 2.17 |
| 99 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.17 |
| 100 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.17 |
| 101 | Phakomatosis cesioflammea | Enrichment | GNAQ | 2.17 |
| 102 | Microcephaly | Enrichment | ABL1, DIAPH1, TRIO | 2.08 |
| 103 | Desmoid disease, hereditary | Enrichment | APC | 1.99 |
| 104 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.99 |
| 105 | Spondyloepiphyseal dysplasia congenita | Enrichment | CLASP1 | 1.99 |
| 106 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.99 |
| 107 | Osteoporosis, juvenile | Enrichment | WNT3A | 1.99 |
| 108 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 1.99 |
| 109 | Chromosome 5q14.3 deletion syndrome, distal | Enrichment | MAP1B | 1.99 |
| 110 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.99 |
| 111 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 1.99 |
| 112 | Desmoid tumor | Enrichment | APC | 1.99 |
| 113 | Hyper ige syndrome | Enrichment | STAT3 | 1.99 |
| 114 | Intellectual developmental disorder, autosomal dominant 44, with microcephaly | Enrichment | TRIO | 1.99 |
| 115 | Pyloric stenosis | Enrichment | MAP1B | 1.99 |
| 116 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.99 |
| 117 | Microcephaly 17, primary, autosomal recessive | Enrichment | RHO | 1.99 |
| 118 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.99 |
| 119 | Colon adenocarcinoma | Enrichment | APC | 1.99 |
| 120 | Anastomosing haemangioma | Enrichment | GNAQ | 1.99 |
| 121 | Keratoacanthoma | Enrichment | PIK3CA | 1.99 |
| 122 | Apc-associated polyposis conditions | Enrichment | APC | 1.99 |
| 123 | Autosomal dominant non-syndromic intellectual disability | Enrichment | DPYSL2, TAOK1 | 1.91 |
| 124 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1 | 1.87 |
| 125 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.87 |
| 126 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 1.87 |
| 127 | Cerebrovascular disease | Enrichment | PIK3CA | 1.87 |
| 128 | Craniopharyngioma | Enrichment | APC | 1.87 |
| 129 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.87 |
| 130 | Autosomal dominant robinow syndrome | Enrichment | DVL1 | 1.87 |
| 131 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.87 |
| 132 | Glioma | Enrichment | PTEN | 1.87 |
| 133 | Retinal detachment | Enrichment | RHO | 1.77 |
| 134 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1 | 1.77 |
| 135 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.77 |
| 136 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.77 |
| 137 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1 | 1.77 |
| 138 | Night blindness | Enrichment | RHO | 1.77 |
| 139 | Hemangioma | Enrichment | PTEN | 1.77 |
| 140 | Acute megakaryocytic leukemia | Enrichment | PTEN | 1.77 |
| 141 | Dementia | Enrichment | MAPT | 1.77 |
| 142 | Melanoma, uveal | Enrichment | GNAQ | 1.70 |
| 143 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.70 |
| 144 | Moyamoya disease 1 | Enrichment | DIAPH1 | 1.70 |
| 145 | Pendred syndrome | Enrichment | DIAPH1 | 1.70 |
| 146 | Autosomal recessive robinow syndrome | Enrichment | DVL1 | 1.70 |
| 147 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.70 |
| 148 | Typical nemaline myopathy | Enrichment | CFL2 | 1.70 |
| 149 | Nevus, epidermal | Enrichment | PIK3CA | 1.63 |
| 150 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.63 |
| 151 | Fundus albipunctatus | Enrichment | RHO | 1.63 |
| 152 | Myelofibrosis | Enrichment | SRC | 1.63 |
| 153 | Squamous cell carcinoma, head and neck | Enrichment | PTEN | 1.63 |
| 154 | Coats disease | Enrichment | RHO | 1.63 |
| 155 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.63 |
| 156 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.63 |
| 157 | Semantic dementia | Enrichment | MAPT | 1.63 |
| 158 | Gallbladder cancer | Enrichment | PIK3CA | 1.63 |
| 159 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.63 |
| 160 | Moyamoya angiopathy | Enrichment | ABL1 | 1.63 |
| 161 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1 | 1.63 |
| 162 | Fanconi anemia, complementation group c | Enrichment | TAOK1 | 1.57 |
| 163 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.57 |
| 164 | Neurofibromatosis, type i | Enrichment | SPRED1 | 1.52 |
| 165 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.52 |
| 166 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.52 |
| 167 | Arteriovenous malformation | Enrichment | PIK3CA | 1.52 |
| 168 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.52 |
| 169 | Progressive non-fluent aphasia | Enrichment | MAPT | 1.52 |
| 170 | Colonic benign neoplasm | Enrichment | APC | 1.52 |
| 171 | Behavioral variant of frontotemporal dementia | Enrichment | MAPT | 1.52 |
| 172 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.48 |
| 173 | Melanoma | Enrichment | PTEN | 1.48 |
| 174 | Frontotemporal dementia 1 | Enrichment | MAPT | 1.44 |
| 175 | Meningioma, familial | Enrichment | PTEN | 1.44 |
| 176 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.44 |
| 177 | Uterine corpus cancer | Enrichment | PTEN | 1.44 |
| 178 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.36 |
| 179 | Alzheimer's disease | Enrichment | MAPT | 1.36 |
| 180 | Nk-cell enteropathy | Enrichment | AURKB | 1.36 |
| 181 | Osteoporosis | Enrichment | SRC | 1.33 |
| 182 | Medulloblastoma | Enrichment | APC | 1.33 |
| 183 | Periventricular nodular heterotopia | Enrichment | MAP1B | 1.33 |
| 184 | Heart disease | Enrichment | ABL1 | 1.33 |
| 185 | Cataract | Enrichment | RHO | 1.33 |
| 186 | Lynch syndrome | Enrichment | PIK3CA | 1.30 |
| 187 | Male infertility with spermatogenesis disorder | Enrichment | SPRED1 | 1.30 |
| 188 | Noonan syndrome and noonan-related syndrome | Enrichment | SPRED1 | 1.30 |
| 189 | Rhabdomyosarcoma | Enrichment | PTEN | 1.28 |
| 190 | Alzheimer disease, familial, 1 | Enrichment | MAPT | 1.25 |
| 191 | Syndromic intellectual disability | Enrichment | TRIO | 1.25 |
| 192 | Williams-beuren syndrome | Enrichment | LIMK1 | 1.18 |
| 193 | Centronuclear myopathy | Enrichment | CFL2 | 1.16 |
| 194 | Hepatoblastoma | Enrichment | APC | 1.16 |
| 195 | Attention deficit-hyperactivity disorder | Enrichment | MAP1B | 1.14 |
| 196 | Inherited cancer-predisposing syndrome | Enrichment | APC, PTEN | 1.13 |
| 197 | Congenital stationary night blindness | Enrichment | RHO | 1.12 |
| 198 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.12 |
| 199 | Parkinson disease, late-onset | Enrichment | MAPT | 1.11 |
| 200 | Auditory neuropathy | Enrichment | DIAPH1 | 1.07 |
| 201 | Lung cancer | Enrichment | PIK3CA | 0.99 |
| 202 | Epilepsy | Enrichment | DIAPH1 | 0.90 |
| 203 | Thrombocytopenia | Enrichment | SRC | 0.82 |
| 204 | Hypertelorism | Enrichment | PIK3CA | 0.79 |
| 205 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MAP1B | 0.79 |
| 206 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN | 0.77 |
| 207 | Undetermined early-onset epileptic encephalopathy | Enrichment | LIMK1 | 0.76 |
| 208 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MAPT | 0.75 |
| 209 | Autosomal recessive non-syndromic intellectual disability | Enrichment | CLIP1 | 0.75 |
| 210 | Cone-rod dystrophy 2 | Enrichment | RHO | 0.68 |
| 211 | Rare genetic deafness | Enrichment | DIAPH1 | 0.63 |
| 212 | Congenital nervous system abnormality | Enrichment | PTEN | 0.52 |
| 213 | Nervous system disease | Enrichment | PTEN | 0.52 |
| 214 | Complex neurodevelopmental disorder | Enrichment | TIAM1 | 0.46 |
| 215 | Retinitis pigmentosa | Enrichment | RHO | 0.29 |
| 216 | Hereditary retinal dystrophy | Enrichment | RHO | 0.20 |
| 217 | Fundus dystrophy | Enrichment | RHO | 0.20 |