| 1 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, JAK2, STAT3 | 7.13 |
| 2 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, MAP2K1, PIK3CA | 7.01 |
| 3 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS, PIK3CA, RB1 | 6.84 |
| 4 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, MAP2K1, RAF1 | 6.40 |
| 5 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, MAP2K1, RAF1 | 5.60 |
| 6 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, RAF1 | 5.39 |
| 7 | Rasopathy | Enrichment | BRAF, HRAS, MAP2K1, RAF1 | 5.38 |
| 8 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA | 5.21 |
| 9 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA | 5.06 |
| 10 | Colorectal cancer | Enrichment | AKT1, BRAF, PIK3CA, PIK3R1, SRC | 4.47 |
| 11 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 4.27 |
| 12 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.27 |
| 13 | Ovarian cancer | Enrichment | AKT1, CDKN1B, PIK3CA, RB1, TSHR | 4.16 |
| 14 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, MAP2K1 | 3.97 |
| 15 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 3.97 |
| 16 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, MAP2K1 | 3.97 |
| 17 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 3.97 |
| 18 | Capillary malformations, congenital | Enrichment | GNAQ, PIK3CA | 3.75 |
| 19 | Hemimegalencephaly | Enrichment | MTOR, PIK3CA | 3.75 |
| 20 | Bladder cancer | Enrichment | HRAS, PIK3CA, RB1 | 3.60 |
| 21 | Klippel-trenaunay-weber syndrome | Enrichment | GNAQ, PIK3CA | 3.57 |
| 22 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.57 |
| 23 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 3.43 |
| 24 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS | 3.43 |
| 25 | Myelofibrosis | Enrichment | JAK2, SRC | 3.43 |
| 26 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 3.43 |
| 27 | Noonan syndrome 3 | Enrichment | HRAS, RAF1 | 3.43 |
| 28 | Gallbladder cancer | Enrichment | BRAF, PIK3CA | 3.43 |
| 29 | Pilomyxoid astrocytoma | Enrichment | BRAF, RAF1 | 3.43 |
| 30 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS | 3.43 |
| 31 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.43 |
| 32 | Primary hyperaldosteronism | Enrichment | BRAF, GNAS | 3.20 |
| 33 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.20 |
| 34 | Meningioma | Enrichment | AKT1, PIK3CA | 2.94 |
| 35 | Lung cancer susceptibility 3 | Enrichment | BRAF, RB1 | 2.80 |
| 36 | Rare genetic intellectual disability | Enrichment | GNAO1, MTOR | 2.74 |
| 37 | Microcephaly | Enrichment | GNAO1, GNB1, IGF1R, MAPK1 | 2.73 |
| 38 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF, CDK4 | 2.63 |
| 39 | Diffuse large b-cell lymphoma | Enrichment | BRAF, STAT3 | 2.53 |
| 40 | Macrodactyly | Enrichment | PIK3CA | 2.37 |
| 41 | Proteus syndrome | Enrichment | AKT1 | 2.37 |
| 42 | Noonan syndrome 5 | Enrichment | RAF1 | 2.37 |
| 43 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.37 |
| 44 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.37 |
| 45 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.37 |
| 46 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.37 |
| 47 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.37 |
| 48 | Noonan syndrome 7 | Enrichment | BRAF | 2.37 |
| 49 | Leopard syndrome 3 | Enrichment | BRAF | 2.37 |
| 50 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.37 |
| 51 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.37 |
| 52 | Cardiac valvular dysplasia 1 | Enrichment | PLD1 | 2.37 |
| 53 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.37 |
| 54 | Neurodevelopmental disorder with involuntary movements | Enrichment | GNAO1 | 2.37 |
| 55 | Sturge-weber syndrome | Enrichment | GNAQ | 2.37 |
| 56 | Ventricular tachycardia, familial | Enrichment | GNAI2 | 2.37 |
| 57 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.37 |
| 58 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.37 |
| 59 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.37 |
| 60 | Brunet-wagner neurodevelopmental syndrome | Enrichment | RBL2 | 2.37 |
| 61 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.37 |
| 62 | Short syndrome | Enrichment | PIK3R1 | 2.37 |
| 63 | Hypothyroidism, congenital, nongoitrous, 4 | Enrichment | TSHB | 2.37 |
| 64 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.37 |
| 65 | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | Enrichment | GNAI1 | 2.37 |
| 66 | Developmental and epileptic encephalopathy 17 | Enrichment | GNAO1 | 2.37 |
| 67 | Lymphangioma | Enrichment | BRAF | 2.37 |
| 68 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.37 |
| 69 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.37 |
| 70 | Phace association | Enrichment | BRAF | 2.37 |
| 71 | Melorheostosis | Enrichment | MAP2K1 | 2.37 |
| 72 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.37 |
| 73 | Leopard syndrome 2 | Enrichment | RAF1 | 2.37 |
| 74 | Immunodeficiency 31a | Enrichment | STAT1 | 2.37 |
| 75 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.37 |
| 76 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 2.37 |
| 77 | Cowden syndrome 6 | Enrichment | AKT1 | 2.37 |
| 78 | Acrodysostosis 2 with or without hormone resistance | Enrichment | PDE4D | 2.37 |
| 79 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.37 |
| 80 | Immunodeficiency 31b | Enrichment | STAT1 | 2.37 |
| 81 | Disorders of gnas inactivation | Enrichment | GNAS | 2.37 |
| 82 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.37 |
| 83 | Thrombocytopenia 6 | Enrichment | SRC | 2.37 |
| 84 | Intellectual developmental disorder, autosomal dominant 42 | Enrichment | GNB1 | 2.37 |
| 85 | Trigonitis | Enrichment | RAF1 | 2.37 |
| 86 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.37 |
| 87 | Trilateral retinoblastoma | Enrichment | RB1 | 2.37 |
| 88 | Hypospadias | Enrichment | PIK3CA | 2.37 |
| 89 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.37 |
| 90 | Rare venous malformation | Enrichment | PIK3CA | 2.37 |
| 91 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.37 |
| 92 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.37 |
| 93 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.37 |
| 94 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.37 |
| 95 | Ganglioglioma | Enrichment | BRAF | 2.37 |
| 96 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.37 |
| 97 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.37 |
| 98 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.37 |
| 99 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.37 |
| 100 | Phace syndrome | Enrichment | BRAF | 2.37 |
| 101 | Gnao1-related disorder | Enrichment | GNAO1 | 2.37 |
| 102 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.37 |
| 103 | Classic hairy cell leukemia | Enrichment | BRAF | 2.37 |
| 104 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.37 |
| 105 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.37 |
| 106 | Mazabraud syndrome | Enrichment | GNAS | 2.37 |
| 107 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.37 |
| 108 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.37 |
| 109 | Macrodactyly of toe | Enrichment | PIK3CA | 2.37 |
| 110 | Lung oat cell carcinoma | Enrichment | RB1 | 2.37 |
| 111 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS | 2.17 |
| 112 | Lung cancer | Enrichment | BRAF, PIK3CA | 2.09 |
| 113 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 2.07 |
| 114 | Costello syndrome | Enrichment | HRAS | 2.07 |
| 115 | Pituitary adenoma 4, acth-secreting | Enrichment | GNAI2 | 2.07 |
| 116 | Pulmonic stenosis | Enrichment | BRAF | 2.07 |
| 117 | Hyperthyroidism, familial gestational | Enrichment | TSHR | 2.07 |
| 118 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.07 |
| 119 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS | 2.07 |
| 120 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 2.07 |
| 121 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.07 |
| 122 | Chromosome 5q12 deletion syndrome | Enrichment | PDE4D | 2.07 |
| 123 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.07 |
| 124 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.07 |
| 125 | Thrombocythemia 3 | Enrichment | JAK2 | 2.07 |
| 126 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.07 |
| 127 | Immunodeficiency 31c | Enrichment | STAT1 | 2.07 |
| 128 | Cebalid syndrome | Enrichment | MTOR | 2.07 |
| 129 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.07 |
| 130 | Acrodysostosis | Enrichment | PDE4D | 2.07 |
| 131 | Pseudohypoparathyroidism | Enrichment | GNAS | 2.07 |
| 132 | Body mass index quantitative trait locus 19 | Enrichment | ADCY3 | 2.07 |
| 133 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.07 |
| 134 | Hypopituitarism | Enrichment | GNAI2 | 2.07 |
| 135 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.07 |
| 136 | Polycythemia | Enrichment | JAK2 | 2.07 |
| 137 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 2.07 |
| 138 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.07 |
| 139 | Familial retinoblastoma | Enrichment | RB1 | 2.07 |
| 140 | Cerebral visual impairment | Enrichment | GNB1 | 2.07 |
| 141 | Phakomatosis cesioflammea | Enrichment | GNAQ | 2.07 |
| 142 | Wooly hair nevus | Enrichment | HRAS | 2.07 |
| 143 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.89 |
| 144 | Mccune-albright syndrome | Enrichment | GNAS | 1.89 |
| 145 | Retinoblastoma | Enrichment | RB1 | 1.89 |
| 146 | Ataxia-telangiectasia | Enrichment | BRAF | 1.89 |
| 147 | Polycythemia vera | Enrichment | JAK2 | 1.89 |
| 148 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.89 |
| 149 | Osteogenic sarcoma | Enrichment | RB1 | 1.89 |
| 150 | Hyperthyroidism, nonautoimmune | Enrichment | TSHR | 1.89 |
| 151 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.89 |
| 152 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.89 |
| 153 | Hypothyroidism, congenital, nongoitrous, 1 | Enrichment | TSHR | 1.89 |
| 154 | Hypotrichosis 8 | Enrichment | RB1 | 1.89 |
| 155 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.89 |
| 156 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.89 |
| 157 | Hyper ige syndrome | Enrichment | STAT3 | 1.89 |
| 158 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 1.89 |
| 159 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.89 |
| 160 | Squamous cell carcinoma | Enrichment | RB1 | 1.89 |
| 161 | Bone osteosarcoma | Enrichment | RB1 | 1.89 |
| 162 | Spermatocytoma | Enrichment | HRAS | 1.89 |
| 163 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 1.89 |
| 164 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.89 |
| 165 | Melanoma of soft tissue | Enrichment | CREB1 | 1.89 |
| 166 | Well-differentiated liposarcoma | Enrichment | CDK4 | 1.89 |
| 167 | Familial hyperthyroidism due to mutations in tsh receptor | Enrichment | TSHR | 1.89 |
| 168 | Anastomosing haemangioma | Enrichment | GNAQ | 1.89 |
| 169 | Keratoacanthoma | Enrichment | PIK3CA | 1.89 |
| 170 | Gastric cancer | Enrichment | CDK4, PIK3CA | 1.84 |
| 171 | West syndrome | Enrichment | GNAO1, PLCB1 | 1.82 |
| 172 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 1.82 |
| 173 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.77 |
| 174 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.77 |
| 175 | Small cell cancer of the lung | Enrichment | RB1 | 1.77 |
| 176 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.77 |
| 177 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.77 |
| 178 | Budd-chiari syndrome | Enrichment | JAK2 | 1.77 |
| 179 | Smith-lemli-opitz syndrome | Enrichment | TSHR | 1.77 |
| 180 | Auriculocondylar syndrome 1 | Enrichment | GNAI3 | 1.77 |
| 181 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.77 |
| 182 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.77 |
| 183 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.77 |
| 184 | Developmental and epileptic encephalopathy 12 | Enrichment | PLCB1 | 1.77 |
| 185 | Lynch syndrome 4 | Enrichment | RB1 | 1.77 |
| 186 | Achromatopsia 4 | Enrichment | GNAI3 | 1.77 |
| 187 | Cerebrovascular disease | Enrichment | PIK3CA | 1.77 |
| 188 | Craniopharyngioma | Enrichment | BRAF | 1.77 |
| 189 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.77 |
| 190 | Epidermolytic nevus | Enrichment | HRAS | 1.77 |
| 191 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.77 |
| 192 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.77 |
| 193 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.77 |
| 194 | Inherited cancer-predisposing syndrome | Enrichment | CDK4, CDKN1B, RB1 | 1.73 |
| 195 | Body mass index quantitative trait locus 11 | Enrichment | ADCY3, GNAS | 1.71 |
| 196 | Insulin-like growth factor i | Enrichment | IGF1R | 1.67 |
| 197 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.67 |
| 198 | Myeloma, multiple | Enrichment | BRAF, PIK3R2 | 1.62 |
| 199 | Melanoma, uveal | Enrichment | GNAQ | 1.60 |
| 200 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.60 |
| 201 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.60 |
| 202 | Wilms tumor 5 | Enrichment | BRAF | 1.60 |
| 203 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.60 |
| 204 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.60 |
| 205 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.53 |
| 206 | Hypothyroidism, congenital, nongoitrous, 2 | Enrichment | TSHR | 1.53 |
| 207 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.53 |
| 208 | Brachydactyly | Enrichment | GNAS | 1.53 |
| 209 | Essential thrombocythemia | Enrichment | JAK2 | 1.53 |
| 210 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.47 |
| 211 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.47 |
| 212 | Hypothyroidism | Enrichment | GNB1 | 1.47 |
| 213 | Choreatic disease | Enrichment | GNAO1 | 1.47 |
| 214 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.47 |
| 215 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.42 |
| 216 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.42 |
| 217 | Developmental and epileptic encephalopathy 14 | Enrichment | PLCB1 | 1.42 |
| 218 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.42 |
| 219 | Ventricular septal defect | Enrichment | BRAF | 1.42 |
| 220 | Breast cancer | Enrichment | AKT1, PIK3CA | 1.39 |
| 221 | Melanoma | Enrichment | BRAF | 1.38 |
| 222 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.38 |
| 223 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 1.34 |
| 224 | Leukemia, acute lymphoblastic | Enrichment | GNB1 | 1.34 |
| 225 | Myelodysplastic syndrome | Enrichment | GNB1 | 1.34 |
| 226 | Movement disease | Enrichment | GNAO1 | 1.34 |
| 227 | Specific learning disability | Enrichment | MAPK1 | 1.34 |
| 228 | Congenital hypothyroidism | Enrichment | TSHR | 1.30 |
| 229 | Neural tube defects | Enrichment | SCRIB | 1.27 |
| 230 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.27 |
| 231 | Nk-cell enteropathy | Enrichment | IGF1R | 1.27 |
| 232 | Osteoporosis | Enrichment | SRC | 1.23 |
| 233 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.21 |
| 234 | Wilms tumor 1 | Enrichment | BRAF | 1.21 |
| 235 | Lynch syndrome | Enrichment | PIK3CA | 1.21 |
| 236 | Rhabdomyosarcoma | Enrichment | HRAS | 1.18 |
| 237 | Cleft palate, isolated | Enrichment | GNB1 | 1.15 |
| 238 | Dandy-walker syndrome | Enrichment | BRAF | 1.15 |
| 239 | Heart, malformation of | Enrichment | MAPK1 | 1.13 |
| 240 | Early infantile developmental and epileptic encephalopathy | Enrichment | GNAO1 | 1.13 |
| 241 | Arteriovenous malformations of the brain | Enrichment | BRAF | 1.11 |
| 242 | Autism spectrum disorder | Enrichment | GNB1, MAP2K1 | 1.10 |
| 243 | Endometrial cancer | Enrichment | PIK3CA | 1.06 |
| 244 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.05 |
| 245 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.01 |
| 246 | Developmental and epileptic encephalopathy 1 | Enrichment | GNAO1 | 0.99 |
| 247 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.98 |
| 248 | Strabismus | Enrichment | GNB1 | 0.96 |
| 249 | Prostate cancer | Enrichment | PIK3CA | 0.93 |
| 250 | Non-immune hydrops fetalis | Enrichment | HRAS | 0.90 |
| 251 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.88 |
| 252 | Left ventricular noncompaction | Enrichment | RAF1 | 0.86 |
| 253 | Dystonia | Enrichment | GNB1 | 0.86 |
| 254 | Developmental and epileptic encephalopathy | Enrichment | GNAO1 | 0.84 |
| 255 | Cerebral palsy | Enrichment | GNB1 | 0.81 |
| 256 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.80 |
| 257 | Epilepsy | Enrichment | TSHR | 0.80 |
| 258 | Benign epilepsy with centrotemporal spikes | Enrichment | PLCB1 | 0.79 |
| 259 | Centralopathic epilepsy | Enrichment | PLCB1 | 0.77 |
| 260 | Thrombocytopenia | Enrichment | SRC | 0.73 |
| 261 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GNB1 | 0.71 |
| 262 | Hypertelorism | Enrichment | PIK3CA | 0.70 |
| 263 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.69 |
| 264 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.65 |
| 265 | Congenital nervous system abnormality | Enrichment | GNAO1 | 0.44 |
| 266 | Nervous system disease | Enrichment | GNAO1 | 0.44 |