| 1 | Lung non-small cell carcinoma | Enrichment | EGFR, HRAS, KRAS, NRAS, PIK3CA | 9.26 |
| 2 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 7.98 |
| 3 | Alzheimer disease 4 | Enrichment | APOE, PSEN1, PSEN2 | 7.92 |
| 4 | Bladder cancer | Enrichment | EGFR, ERBB3, HRAS, KRAS, PIK3CA | 6.88 |
| 5 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 6.53 |
| 6 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS, SOS1 | 6.40 |
| 7 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS, PIK3CA | 5.83 |
| 8 | Childhood absence epilepsy | Enrichment | GABRA1, GABRB3, GABRG2 | 5.83 |
| 9 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS, SOS1 | 5.60 |
| 10 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 5.59 |
| 11 | Rasopathy | Enrichment | HRAS, KRAS, NRAS, SOS1 | 5.38 |
| 12 | Alzheimer disease 3 | Enrichment | APOE, PSEN1 | 5.27 |
| 13 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS, PIK3CA | 4.80 |
| 14 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.75 |
| 15 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.74 |
| 16 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.27 |
| 17 | Neonatal inflammatory skin and bowel disease | Enrichment | ADAM17, EGFR | 4.27 |
| 18 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.97 |
| 19 | Early-onset autosomal dominant alzheimer disease | Enrichment | PSEN1, PSEN2 | 3.95 |
| 20 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 3.60 |
| 21 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 3.57 |
| 22 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA | 3.57 |
| 23 | Breast cancer | Enrichment | ESR1, KRAS, PIK3CA, SHC1 | 3.54 |
| 24 | Migraine with or without aura 1 | Enrichment | ESR1, TAB2 | 3.53 |
| 25 | Lung cancer | Enrichment | EGFR, KRAS, PIK3CA | 3.47 |
| 26 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 3.43 |
| 27 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 3.43 |
| 28 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.43 |
| 29 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 3.43 |
| 30 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 3.43 |
| 31 | Alzheimer's disease | Enrichment | APOE, PSEN1 | 3.38 |
| 32 | Nk-cell enteropathy | Enrichment | ERBB4, PIK3CB | 3.33 |
| 33 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 3.31 |
| 34 | Lennox-gastaut syndrome | Enrichment | GABRB3, GABRG2 | 3.31 |
| 35 | Colorectal cancer | Enrichment | NRAS, PIK3CA, PIK3R1, SRC | 3.29 |
| 36 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 3.20 |
| 37 | Adult hepatocellular carcinoma | Enrichment | EGF, PIK3CA | 3.20 |
| 38 | Epilepsy | Enrichment | GABRA1, GABRB3, WWOX | 3.18 |
| 39 | Autoimmune disease, multisystem, with facial dysmorphism | Enrichment | ITCH | 3.18 |
| 40 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 3.18 |
| 41 | Thrombocytopenia 6 | Enrichment | SRC | 3.18 |
| 42 | Syndromic multisystem autoimmune disease due to itch deficiency | Enrichment | ITCH | 3.18 |
| 43 | Alzheimer disease, familial, 1 | Enrichment | APOE, PSEN1 | 3.14 |
| 44 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 3.10 |
| 45 | Dravet syndrome | Enrichment | GABRA1, GABRG2 | 3.10 |
| 46 | Hereditary breast carcinoma | Enrichment | ESR1, KRAS, PIK3CA | 3.06 |
| 47 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 2.94 |
| 48 | Submucosal cleft palate | Enrichment | UBB | 2.88 |
| 49 | Cleft hard palate | Enrichment | UBB | 2.88 |
| 50 | Aortic valve disease 1 | Enrichment | SOS1, TAB2 | 2.87 |
| 51 | Lung cancer susceptibility 3 | Enrichment | EGFR, KRAS | 2.80 |
| 52 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1, WWOX | 2.80 |
| 53 | Undetermined early-onset epileptic encephalopathy | Enrichment | GABRB2, GABRG2, WWOX | 2.76 |
| 54 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 2.74 |
| 55 | Uvula, bifid | Enrichment | UBB | 2.70 |
| 56 | Cleft soft palate | Enrichment | UBB | 2.70 |
| 57 | Sea-blue histiocyte disease | Enrichment | APOE | 2.63 |
| 58 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development | Enrichment | YAP1 | 2.63 |
| 59 | Acne inversa, familial, 1 | Enrichment | NCSTN | 2.63 |
| 60 | Lipoprotein glomerulopathy | Enrichment | APOE | 2.63 |
| 61 | Progesterone resistance | Enrichment | PGR | 2.63 |
| 62 | Cardiomyopathy, dilated, 1v | Enrichment | PSEN2 | 2.63 |
| 63 | Uveal coloboma-cleft lip and palate-intellectual disability | Enrichment | YAP1 | 2.63 |
| 64 | Cardiomyopathy, dilated, 1u | Enrichment | PSEN1 | 2.63 |
| 65 | Acne inversa, familial, 2, with or without dowling-degos disease | Enrichment | PSENEN | 2.63 |
| 66 | Acne inversa, familial, 3 | Enrichment | PSEN1 | 2.63 |
| 67 | Esophagus squamous cell carcinoma | Enrichment | WWOX | 2.63 |
| 68 | Pash syndrome | Enrichment | NCSTN | 2.63 |
| 69 | Huntington's disease-like | Enrichment | PSEN2 | 2.63 |
| 70 | Polyvalvular heart disease syndrome | Enrichment | TAB2 | 2.63 |
| 71 | Hirschsprung disease 1 | Enrichment | ERBB2, NRG3 | 2.62 |
| 72 | Macrodactyly | Enrichment | PIK3CA | 2.60 |
| 73 | Paget disease, extramammary | Enrichment | ERBB2 | 2.60 |
| 74 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.60 |
| 75 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.60 |
| 76 | Multiple fibroadenomas of the breast | Enrichment | PRLR | 2.60 |
| 77 | Developmental and epileptic encephalopathy 27 | Enrichment | GRIN2B | 2.60 |
| 78 | Accelerated tumor formation | Enrichment | MDM2 | 2.60 |
| 79 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.60 |
| 80 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.60 |
| 81 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.60 |
| 82 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.60 |
| 83 | Short syndrome | Enrichment | PIK3R1 | 2.60 |
| 84 | Hyperprolactinemia | Enrichment | PRLR | 2.60 |
| 85 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.60 |
| 86 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.60 |
| 87 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | Enrichment | GRIN2B | 2.60 |
| 88 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.60 |
| 89 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.60 |
| 90 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.60 |
| 91 | Hypospadias | Enrichment | PIK3CA | 2.60 |
| 92 | Familial hyperprolactinemia | Enrichment | PRLR | 2.60 |
| 93 | Grin2b-related neurodevelopmental disorder | Enrichment | GRIN2B | 2.60 |
| 94 | Rare venous malformation | Enrichment | PIK3CA | 2.60 |
| 95 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.60 |
| 96 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.60 |
| 97 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.60 |
| 98 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.60 |
| 99 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.60 |
| 100 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.60 |
| 101 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.60 |
| 102 | Macrodactyly of toe | Enrichment | PIK3CA | 2.60 |
| 103 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.60 |
| 104 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 2.53 |
| 105 | Erythroleukemia, familial | Enrichment | ERBB3 | 2.37 |
| 106 | Oculoectodermal syndrome | Enrichment | KRAS | 2.37 |
| 107 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.37 |
| 108 | Noonan syndrome 4 | Enrichment | SOS1 | 2.37 |
| 109 | Febrile seizures, familial, 8 | Enrichment | GABRG2 | 2.37 |
| 110 | Epilepsy, idiopathic generalized 13 | Enrichment | GABRA1 | 2.37 |
| 111 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.37 |
| 112 | Lethal congenital contracture syndrome 2 | Enrichment | ERBB3 | 2.37 |
| 113 | Noonan syndrome 6 | Enrichment | NRAS | 2.37 |
| 114 | Developmental and epileptic encephalopathy 74 | Enrichment | GABRG2 | 2.37 |
| 115 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.37 |
| 116 | Developmental and epileptic encephalopathy 19 | Enrichment | GABRA1 | 2.37 |
| 117 | Epilepsy, childhood absence 5 | Enrichment | GABRB3 | 2.37 |
| 118 | Developmental and epileptic encephalopathy 92 | Enrichment | GABRB2 | 2.37 |
| 119 | Developmental and epileptic encephalopathy 43 | Enrichment | GABRB3 | 2.37 |
| 120 | Developmental and epileptic encephalopathy 45 | Enrichment | GABRB1 | 2.37 |
| 121 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.37 |
| 122 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.37 |
| 123 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.37 |
| 124 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.37 |
| 125 | Myelofibrosis | Enrichment | SRC | 2.33 |
| 126 | Alexander disease | Enrichment | GFAP | 2.33 |
| 127 | Pick disease of brain | Enrichment | PSEN1 | 2.33 |
| 128 | Developmental and epileptic encephalopathy 28 | Enrichment | WWOX | 2.33 |
| 129 | Spinocerebellar ataxia, autosomal recessive 12 | Enrichment | WWOX | 2.33 |
| 130 | Spastic paraplegia, intellectual disability, nystagmus, and obesity | Enrichment | GFAP | 2.33 |
| 131 | Hyperlipoproteinemia, type iii | Enrichment | APOE | 2.33 |
| 132 | Osteogenesis imperfecta, type xvii | Enrichment | SPARC | 2.33 |
| 133 | Inflammatory skin and bowel disease, neonatal, 1 | Enrichment | ADAM17 | 2.33 |
| 134 | Congenital heart defects, multiple types, 2 | Enrichment | TAB2 | 2.33 |
| 135 | Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome | Enrichment | TAB2 | 2.33 |
| 136 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.30 |
| 137 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.30 |
| 138 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.30 |
| 139 | Thrombocythemia 3 | Enrichment | JAK2 | 2.30 |
| 140 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.30 |
| 141 | Vulto-van silfhout-de vries syndrome | Enrichment | DLG4 | 2.30 |
| 142 | Polycythemia | Enrichment | JAK2 | 2.30 |
| 143 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.30 |
| 144 | Acute megakaryoblastic leukemia in children without down syndrome | Enrichment | CBFA2T3 | 2.30 |
| 145 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.30 |
| 146 | Gastric cancer | Enrichment | ERBB2, PIK3CA | 2.29 |
| 147 | West syndrome | Enrichment | GRIN2B, WWOX | 2.27 |
| 148 | Familial isolated dilated cardiomyopathy | Enrichment | PSEN1, PSEN2 | 2.16 |
| 149 | Autosomal dominant non-syndromic intellectual disability | Enrichment | ERBB4, GRIN2B | 2.16 |
| 150 | Pelvic organ prolapse | Enrichment | TAB2 | 2.15 |
| 151 | Estrogen resistance | Enrichment | ESR1 | 2.15 |
| 152 | Migraine without aura | Enrichment | ESR1 | 2.15 |
| 153 | Polycythemia vera | Enrichment | JAK2 | 2.12 |
| 154 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.12 |
| 155 | Heart defects, congenital, and other congenital anomalies | Enrichment | DLG4 | 2.12 |
| 156 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.12 |
| 157 | Intellectual developmental disorder, autosomal dominant 62 | Enrichment | DLG4 | 2.12 |
| 158 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2 | 2.12 |
| 159 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 2.12 |
| 160 | Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures | Enrichment | DLG4 | 2.12 |
| 161 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.12 |
| 162 | Dlg4-related synaptopathy | Enrichment | DLG4 | 2.12 |
| 163 | Well-differentiated liposarcoma | Enrichment | MDM2 | 2.12 |
| 164 | Keratoacanthoma | Enrichment | PIK3CA | 2.12 |
| 165 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.11 |
| 166 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4, PSEN1 | 2.09 |
| 167 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.07 |
| 168 | Costello syndrome | Enrichment | HRAS | 2.07 |
| 169 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | ERBB3 | 2.07 |
| 170 | Pulmonic stenosis | Enrichment | SOS1 | 2.07 |
| 171 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.07 |
| 172 | Wooly hair nevus | Enrichment | HRAS | 2.07 |
| 173 | Ovarian cancer | Enrichment | EGFR, KRAS, PIK3CA | 2.04 |
| 174 | Osteoporosis | Enrichment | SRC | 2.03 |
| 175 | Macular degeneration, age-related, 1 | Enrichment | APOE | 2.03 |
| 176 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 2.03 |
| 177 | Dowling-degos disease | Enrichment | PSENEN | 2.03 |
| 178 | Malignant epithelioid hemangioendothelioma | Enrichment | YAP1 | 2.03 |
| 179 | Primary ovarian insufficiency | Enrichment | JAK2, PRLR | 2.02 |
| 180 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 2.00 |
| 181 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DLG4 | 2.00 |
| 182 | Astigmatism | Enrichment | GRIN2B | 2.00 |
| 183 | Budd-chiari syndrome | Enrichment | JAK2 | 2.00 |
| 184 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.00 |
| 185 | Barrett esophagus | Enrichment | ERBB2 | 2.00 |
| 186 | Cerebrovascular disease | Enrichment | PIK3CA | 2.00 |
| 187 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.00 |
| 188 | Alzheimer disease 2 | Enrichment | APOE | 1.93 |
| 189 | Dementia | Enrichment | PSEN1 | 1.93 |
| 190 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.90 |
| 191 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.90 |
| 192 | Hemimegalencephaly | Enrichment | PIK3CA | 1.90 |
| 193 | Sleep disorder | Enrichment | GRIN2B | 1.90 |
| 194 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 1.90 |
| 195 | Nuchal bleb, familial | Enrichment | SOS1 | 1.89 |
| 196 | Langerhans cell histiocytosis | Enrichment | NRAS | 1.89 |
| 197 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.89 |
| 198 | Spermatocytoma | Enrichment | HRAS | 1.89 |
| 199 | Benign epilepsy with centrotemporal spikes | Enrichment | GABRG2, WWOX | 1.88 |
| 200 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | PSEN1 | 1.85 |
| 201 | Metachromatic leukodystrophy | Enrichment | GFAP | 1.85 |
| 202 | Lipid metabolism disorder | Enrichment | APOE | 1.85 |
| 203 | Centralopathic epilepsy | Enrichment | GABRG2, WWOX | 1.84 |
| 204 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.83 |
| 205 | Li-fraumeni syndrome | Enrichment | MDM2 | 1.83 |
| 206 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.83 |
| 207 | Esophageal cancer | Enrichment | WWOX | 1.79 |
| 208 | Semantic dementia | Enrichment | PSEN1 | 1.79 |
| 209 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 1.77 |
| 210 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.77 |
| 211 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 1.77 |
| 212 | Autosomal dominant nocturnal frontal lobe epilepsy | Enrichment | GABRG2 | 1.77 |
| 213 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.77 |
| 214 | Pilocytic astrocytoma | Enrichment | KRAS | 1.77 |
| 215 | Epidermolytic nevus | Enrichment | HRAS | 1.77 |
| 216 | Gingival fibromatosis | Enrichment | SOS1 | 1.77 |
| 217 | Essential thrombocythemia | Enrichment | JAK2 | 1.76 |
| 218 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.76 |
| 219 | Glioma susceptibility 1 | Enrichment | ERBB2 | 1.70 |
| 220 | Progressive non-fluent aphasia | Enrichment | PSEN1 | 1.68 |
| 221 | Behavioral variant of frontotemporal dementia | Enrichment | PSEN1 | 1.68 |
| 222 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.65 |
| 223 | Cowden syndrome | Enrichment | PIK3CA | 1.65 |
| 224 | Myeloma, multiple | Enrichment | KRAS, YAP1 | 1.62 |
| 225 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.61 |
| 226 | Angelman syndrome | Enrichment | GABRG3 | 1.60 |
| 227 | Epilepsy, childhood absence 1 | Enrichment | GABRB3 | 1.60 |
| 228 | Frontotemporal dementia 1 | Enrichment | PSEN1 | 1.59 |
| 229 | Congenital nervous system abnormality | Enrichment | PSEN1, WWOX | 1.59 |
| 230 | Nervous system disease | Enrichment | PSEN1, WWOX | 1.59 |
| 231 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.53 |
| 232 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.53 |
| 233 | Meningioma | Enrichment | PIK3CA | 1.53 |
| 234 | Microphthalmia/coloboma 12 | Enrichment | YAP1 | 1.52 |
| 235 | Osteogenesis imperfecta, type iv | Enrichment | SPARC | 1.52 |
| 236 | Thrombocytopenia | Enrichment | SRC | 1.50 |
| 237 | Acute promyelocytic leukemia | Enrichment | STAT5B | 1.49 |
| 238 | Coloboma of macula | Enrichment | YAP1 | 1.46 |
| 239 | Familial hypercholesterolemia | Enrichment | APOE | 1.46 |
| 240 | Complex neurodevelopmental disorder | Enrichment | DLG4, GRIN2B | 1.42 |
| 241 | Human immunodeficiency virus type 1 | Enrichment | CXCL12 | 1.38 |
| 242 | Patent foramen ovale | Enrichment | TAB2 | 1.38 |
| 243 | Epilepsy, myoclonic juvenile | Enrichment | GABRA1 | 1.34 |
| 244 | Epilepsy, idiopathic generalized | Enrichment | GABRA1 | 1.34 |
| 245 | Craniosynostosis | Enrichment | GRIN2B | 1.31 |
| 246 | Myocardial infarction | Enrichment | ESR1 | 1.30 |
| 247 | Skin disease | Enrichment | NCSTN | 1.30 |
| 248 | Endometrial cancer | Enrichment | PIK3CA | 1.29 |
| 249 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.27 |
| 250 | Protein-deficiency anemia | Enrichment | NRAS | 1.27 |
| 251 | Scoliosis | Enrichment | GFAP | 1.26 |
| 252 | Developmental and epileptic encephalopathy 1 | Enrichment | WWOX | 1.24 |
| 253 | Generalized epilepsy with febrile seizures plus | Enrichment | GABRG2 | 1.23 |
| 254 | Rhabdomyosarcoma | Enrichment | HRAS | 1.18 |
| 255 | Gliosarcoma | Enrichment | EGFR | 1.18 |
| 256 | Prostate cancer | Enrichment | PIK3CA | 1.15 |
| 257 | Giant cell glioblastoma | Enrichment | EGFR | 1.15 |
| 258 | Cerebral palsy | Enrichment | GRIN2B | 1.03 |
| 259 | Pancreatic cancer | Enrichment | KRAS | 0.99 |
| 260 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.98 |
| 261 | Hypertelorism | Enrichment | PIK3CA | 0.91 |
| 262 | Dilated cardiomyopathy | Enrichment | TAB2 | 0.76 |
| 263 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.68 |
| 264 | Schizophrenia | Enrichment | GABRB2 | 0.65 |
| 265 | Autism spectrum disorder | Enrichment | GRIN2B | 0.62 |
| 266 | Microcephaly | Enrichment | GRIN2B | 0.57 |
| 267 | Inherited cancer-predisposing syndrome | Enrichment | EGFR | 0.36 |