| 1 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA, TP53 | 5.77 |
| 2 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.23 |
| 3 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.53 |
| 4 | Breast cancer | Enrichment | AKT1, PIK3CA, SHC1, TP53 | 3.45 |
| 5 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NGF, NTRK1 | 3.39 |
| 6 | Gallbladder cancer | Enrichment | PIK3CA, TP53 | 3.39 |
| 7 | Early-onset autosomal dominant alzheimer disease | Enrichment | APP, PSEN1 | 3.39 |
| 8 | Colorectal cancer | Enrichment | AKT1, PIK3CA, PIK3R1, TP53 | 3.21 |
| 9 | Adult hepatocellular carcinoma | Enrichment | PIK3CA, TP53 | 3.15 |
| 10 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.15 |
| 11 | Behavioral variant of frontotemporal dementia | Enrichment | PSEN1, SQSTM1 | 3.15 |
| 12 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA, TP53 | 3.00 |
| 13 | Ovarian cancer | Enrichment | AKT1, NTRK1, PIK3CA, TP53 | 2.96 |
| 14 | Meningioma | Enrichment | AKT1, PIK3CA | 2.89 |
| 15 | Lip and oral cavity carcinoma | Enrichment | PIK3CA, TP53 | 2.89 |
| 16 | Alzheimer's disease | Enrichment | APP, PSEN1 | 2.82 |
| 17 | Alzheimer disease, familial, 1 | Enrichment | APP, PSEN1 | 2.59 |
| 18 | Diffuse large b-cell lymphoma | Enrichment | MYD88, TP53 | 2.49 |
| 19 | Hepatocellular carcinoma | Enrichment | PIK3CA, TP53 | 2.36 |
| 20 | Macrodactyly | Enrichment | PIK3CA | 2.35 |
| 21 | Proteus syndrome | Enrichment | AKT1 | 2.35 |
| 22 | Paget disease of bone 3 | Enrichment | SQSTM1 | 2.35 |
| 23 | Incontinentia pigmenti | Enrichment | IKBKG | 2.35 |
| 24 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.35 |
| 25 | Immunodeficiency 68 | Enrichment | MYD88 | 2.35 |
| 26 | Macroglobulinemia, waldenstrom 1 | Enrichment | MYD88 | 2.35 |
| 27 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.35 |
| 28 | White blood cell count quantitative trait locus 1 | Enrichment | ACKR1 | 2.35 |
| 29 | Acne inversa, familial, 1 | Enrichment | NCSTN | 2.35 |
| 30 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.35 |
| 31 | Scheuermann disease | Enrichment | GNPTAB | 2.35 |
| 32 | Mucolipidosis iii alpha/beta | Enrichment | GNPTAB | 2.35 |
| 33 | Nephrotic syndrome, type 8 | Enrichment | ARHGDIA | 2.35 |
| 34 | Fetal encasement syndrome | Enrichment | CHUK | 2.35 |
| 35 | Low density lipoprotein cholesterol level quantitative trait locus 6 | Enrichment | SORT1 | 2.35 |
| 36 | Mucolipidosis ii alpha/beta | Enrichment | GNPTAB | 2.35 |
| 37 | Angioedema, hereditary, 4 | Enrichment | PLG | 2.35 |
| 38 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.35 |
| 39 | Immunodeficiency 15b | Enrichment | IKBKB | 2.35 |
| 40 | Myopathy, distal, with rimmed vacuoles | Enrichment | SQSTM1 | 2.35 |
| 41 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | Enrichment | SQSTM1 | 2.35 |
| 42 | Immunodeficiency 15a | Enrichment | IKBKB | 2.35 |
| 43 | Short syndrome | Enrichment | PIK3R1 | 2.35 |
| 44 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.35 |
| 45 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.35 |
| 46 | Papilloma of choroid plexus | Enrichment | TP53 | 2.35 |
| 47 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.35 |
| 48 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.35 |
| 49 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.35 |
| 50 | Thrombocytopenia 4 | Enrichment | CYCS | 2.35 |
| 51 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.35 |
| 52 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.35 |
| 53 | Cerebral amyloid angiopathy, app-related | Enrichment | APP | 2.35 |
| 54 | Cardiomyopathy, dilated, 1u | Enrichment | PSEN1 | 2.35 |
| 55 | Coronary heart disease 6 | Enrichment | MMP3 | 2.35 |
| 56 | Glaucoma 1, open angle, o | Enrichment | NTF4 | 2.35 |
| 57 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.35 |
| 58 | Cowden syndrome 6 | Enrichment | AKT1 | 2.35 |
| 59 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.35 |
| 60 | Acne inversa, familial, 2, with or without dowling-degos disease | Enrichment | PSENEN | 2.35 |
| 61 | Acne inversa, familial, 3 | Enrichment | PSEN1 | 2.35 |
| 62 | Ductal carcinoma in situ | Enrichment | TP53 | 2.35 |
| 63 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.35 |
| 64 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.35 |
| 65 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.35 |
| 66 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.35 |
| 67 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.35 |
| 68 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.35 |
| 69 | Hypospadias | Enrichment | PIK3CA | 2.35 |
| 70 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.35 |
| 71 | Gnptab-related disorders | Enrichment | GNPTAB | 2.35 |
| 72 | Choroid plexus cancer | Enrichment | TP53 | 2.35 |
| 73 | Rare venous malformation | Enrichment | PIK3CA | 2.35 |
| 74 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.35 |
| 75 | Waldenstram macroglobulinemia | Enrichment | MYD88 | 2.35 |
| 76 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.35 |
| 77 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.35 |
| 78 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.35 |
| 79 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.35 |
| 80 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.35 |
| 81 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.35 |
| 82 | Pash syndrome | Enrichment | NCSTN | 2.35 |
| 83 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.35 |
| 84 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.35 |
| 85 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.35 |
| 86 | Distal 17p13.3 microdeletion syndrome | Enrichment | YWHAE | 2.35 |
| 87 | Macrodactyly of toe | Enrichment | PIK3CA | 2.35 |
| 88 | Peripheral nervous system disease | Enrichment | NGF | 2.33 |
| 89 | Neuropathy | Enrichment | NGF | 2.33 |
| 90 | Malaria | Enrichment | ACKR1, IKBKG | 2.32 |
| 91 | Bladder cancer | Enrichment | PIK3CA, TP53 | 2.13 |
| 92 | Prostate cancer | Enrichment | PIK3CA, TP53 | 2.13 |
| 93 | Cerebral amyloid angiopathy, cst3-related | Enrichment | APP | 2.05 |
| 94 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.05 |
| 95 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 2.05 |
| 96 | Plasminogen deficiency, type i | Enrichment | PLG | 2.05 |
| 97 | Alzheimer disease 3 | Enrichment | PSEN1 | 2.05 |
| 98 | Cervical cancer | Enrichment | TP53 | 2.05 |
| 99 | Immunodeficiency 33 | Enrichment | IKBKG | 2.05 |
| 100 | Pick disease of brain | Enrichment | PSEN1 | 2.05 |
| 101 | Welander distal myopathy | Enrichment | SQSTM1 | 2.05 |
| 102 | Legg-calve-perthes disease | Enrichment | GNPTAB | 2.05 |
| 103 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.05 |
| 104 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.05 |
| 105 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.05 |
| 106 | Deafness, autosomal dominant 64 | Enrichment | DIABLO | 2.05 |
| 107 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 2.05 |
| 108 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Enrichment | SQSTM1 | 2.05 |
| 109 | Lung disease, immunodeficiency, and chromosome breakage syndrome | Enrichment | NSMCE3 | 2.05 |
| 110 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.05 |
| 111 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.05 |
| 112 | Congenital fibrosarcoma | Enrichment | TP53 | 2.05 |
| 113 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.05 |
| 114 | Sarcoma | Enrichment | TP53 | 2.05 |
| 115 | Inflammatory skin and bowel disease, neonatal, 1 | Enrichment | ADAM17 | 2.05 |
| 116 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG | 2.05 |
| 117 | Hereditary angioedema | Enrichment | PLG | 2.05 |
| 118 | Cervix carcinoma | Enrichment | TP53 | 2.05 |
| 119 | Hodgkin's lymphoma | Enrichment | TP53 | 2.05 |
| 120 | Paget's disease of bone | Enrichment | SQSTM1 | 2.05 |
| 121 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.05 |
| 122 | Transient predisposition to invasive pyogenic bacterial infection | Enrichment | MYD88 | 2.05 |
| 123 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.05 |
| 124 | Spastic paraplegia-paget disease of bone syndrome | Enrichment | SQSTM1 | 2.05 |
| 125 | Angioedema, hereditary, 1 | Enrichment | PLG | 1.87 |
| 126 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1 | 1.87 |
| 127 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.87 |
| 128 | Osteogenic sarcoma | Enrichment | TP53 | 1.87 |
| 129 | Alzheimer disease 4 | Enrichment | PSEN1 | 1.87 |
| 130 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.87 |
| 131 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.87 |
| 132 | Miller-dieker lissencephaly syndrome | Enrichment | YWHAE | 1.87 |
| 133 | Chromosome 17p13.3, centromeric, duplication syndrome | Enrichment | YWHAE | 1.87 |
| 134 | Mucolipidosis | Enrichment | GNPTAB | 1.87 |
| 135 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.87 |
| 136 | Anaplastic astrocytoma | Enrichment | TP53 | 1.87 |
| 137 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.87 |
| 138 | Squamous cell carcinoma | Enrichment | TP53 | 1.87 |
| 139 | Adenocarcinoma | Enrichment | TP53 | 1.87 |
| 140 | Bone osteosarcoma | Enrichment | TP53 | 1.87 |
| 141 | Neonatal inflammatory skin and bowel disease | Enrichment | ADAM17 | 1.87 |
| 142 | Keratoacanthoma | Enrichment | PIK3CA | 1.87 |
| 143 | Gastric cancer | Enrichment | PIK3CA, TP53 | 1.80 |
| 144 | Small cell cancer of the lung | Enrichment | TP53 | 1.75 |
| 145 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.75 |
| 146 | Paget disease of bone 2, early-onset | Enrichment | SQSTM1 | 1.75 |
| 147 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.75 |
| 148 | Schaaf-yang syndrome | Enrichment | NDN | 1.75 |
| 149 | Dowling-degos disease | Enrichment | PSENEN | 1.75 |
| 150 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.75 |
| 151 | Cerebrovascular disease | Enrichment | PIK3CA | 1.75 |
| 152 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.75 |
| 153 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.75 |
| 154 | Paget's disease of bone 2 | Enrichment | SQSTM1 | 1.75 |
| 155 | Pediatric systemic lupus erythematosus | Enrichment | IRAK1 | 1.75 |
| 156 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | TRAF6 | 1.65 |
| 157 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.65 |
| 158 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.65 |
| 159 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.65 |
| 160 | Lymphoma | Enrichment | TP53 | 1.65 |
| 161 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.65 |
| 162 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 1.65 |
| 163 | Hemimegalencephaly | Enrichment | PIK3CA | 1.65 |
| 164 | Dementia | Enrichment | PSEN1 | 1.65 |
| 165 | Endometrial stromal sarcoma | Enrichment | YWHAE | 1.65 |
| 166 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.57 |
| 167 | Li-fraumeni syndrome | Enrichment | TP53 | 1.57 |
| 168 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.57 |
| 169 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | PSEN1 | 1.57 |
| 170 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF | 1.57 |
| 171 | Mucopolysaccharidosis, type iiia | Enrichment | GNPTAB | 1.57 |
| 172 | Adrenocortical carcinoma | Enrichment | TP53 | 1.57 |
| 173 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.57 |
| 174 | Kidney clear cell sarcoma | Enrichment | YWHAE | 1.57 |
| 175 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PSEN1, SQSTM1 | 1.55 |
| 176 | Esophageal cancer | Enrichment | TP53 | 1.51 |
| 177 | Nevus, epidermal | Enrichment | PIK3CA | 1.51 |
| 178 | Prader-willi syndrome | Enrichment | NDN | 1.51 |
| 179 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.51 |
| 180 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.51 |
| 181 | Semantic dementia | Enrichment | PSEN1 | 1.51 |
| 182 | Alzheimer's disease 1 | Enrichment | APP | 1.51 |
| 183 | Essential thrombocythemia | Enrichment | TP53 | 1.51 |
| 184 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.51 |
| 185 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.51 |
| 186 | Glioma susceptibility 1 | Enrichment | TP53 | 1.45 |
| 187 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.45 |
| 188 | Ellis-van creveld syndrome | Enrichment | PRKACB | 1.40 |
| 189 | Coronary heart disease 5 | Enrichment | IKBKG | 1.40 |
| 190 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.40 |
| 191 | Arteriovenous malformation | Enrichment | PIK3CA | 1.40 |
| 192 | Congenital central hypoventilation syndrome | Enrichment | BDNF | 1.40 |
| 193 | Progressive non-fluent aphasia | Enrichment | PSEN1 | 1.40 |
| 194 | Primary hyperaldosteronism | Enrichment | TP53 | 1.40 |
| 195 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.36 |
| 196 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Enrichment | SQSTM1 | 1.36 |
| 197 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.36 |
| 198 | Familial colorectal cancer | Enrichment | TP53 | 1.36 |
| 199 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.36 |
| 200 | Frontotemporal dementia 1 | Enrichment | PSEN1 | 1.32 |
| 201 | Myelodysplastic syndrome | Enrichment | TP53 | 1.32 |
| 202 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.32 |
| 203 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.21 |
| 204 | Lynch syndrome | Enrichment | PIK3CA | 1.18 |
| 205 | Rhabdomyosarcoma | Enrichment | TP53 | 1.16 |
| 206 | Gliosarcoma | Enrichment | TP53 | 1.16 |
| 207 | Giant cell glioblastoma | Enrichment | TP53 | 1.13 |
| 208 | Endometrial cancer | Enrichment | PIK3CA | 1.04 |
| 209 | Hepatoblastoma | Enrichment | TP53 | 1.04 |
| 210 | Skin disease | Enrichment | NCSTN | 1.02 |
| 211 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.01 |
| 212 | Pancreatic cancer | Enrichment | TP53 | 0.97 |
| 213 | Differentiated thyroid carcinoma | Enrichment | NTRK1 | 0.91 |
| 214 | Lung cancer | Enrichment | PIK3CA | 0.87 |
| 215 | Cystic fibrosis | Enrichment | PLG | 0.87 |
| 216 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.86 |
| 217 | Genetic steroid-resistant nephrotic syndrome | Enrichment | ARHGDIA | 0.85 |
| 218 | Diamond-blackfan anemia | Enrichment | TP53 | 0.82 |
| 219 | Systemic lupus erythematosus | Enrichment | IRAK1 | 0.79 |
| 220 | Leukemia, acute myeloid | Enrichment | TP53 | 0.78 |
| 221 | Thrombocytopenia | Enrichment | CYCS | 0.71 |
| 222 | Body mass index quantitative trait locus 11 | Enrichment | BDNF | 0.69 |
| 223 | Hypertelorism | Enrichment | PIK3CA | 0.68 |
| 224 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | DIABLO | 0.68 |
| 225 | Familial isolated dilated cardiomyopathy | Enrichment | PSEN1 | 0.67 |
| 226 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.66 |
| 227 | Myeloma, multiple | Enrichment | TP53 | 0.65 |
| 228 | Schizophrenia | Enrichment | RTN4R | 0.63 |
| 229 | Primary ovarian insufficiency | Enrichment | NTRK1 | 0.63 |
| 230 | Congenital nervous system abnormality | Enrichment | PSEN1 | 0.42 |
| 231 | Nervous system disease | Enrichment | PSEN1 | 0.42 |
| 232 | Inherited cancer-predisposing syndrome | Enrichment | TP53 | 0.35 |