| 1 | Rasopathy | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, RAF1, RRAS2 | 16.00 |
| 2 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2 | 16.00 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 11.33 |
| 4 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 9.53 |
| 5 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 9.53 |
| 6 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, KRAS, MAP2K1, NRAS | 9.26 |
| 7 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, NRAS, RAF1 | 7.68 |
| 8 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 7.13 |
| 9 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 6.53 |
| 10 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 5.59 |
| 11 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS | 5.59 |
| 12 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1, RASA1 | 5.59 |
| 13 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1 | 5.59 |
| 14 | Pilomyxoid astrocytoma | Enrichment | BRAF, KRAS, RAF1 | 5.59 |
| 15 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS | 5.59 |
| 16 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 5.39 |
| 17 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, RASA1 | 5.21 |
| 18 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS, KRAS, NRAS | 5.18 |
| 19 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, RASA1 | 5.06 |
| 20 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, RRAS | 4.80 |
| 21 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.75 |
| 22 | Angioma, tufted | Enrichment | GNA14, KDR | 4.75 |
| 23 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3, ITPR3 | 4.42 |
| 24 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.39 |
| 25 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.27 |
| 26 | Anastomosing haemangioma | Enrichment | GNA11, GNA14 | 4.27 |
| 27 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.97 |
| 28 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 3.97 |
| 29 | Capillary malformations, congenital | Enrichment | GNA11, RASA1 | 3.75 |
| 30 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2, MYLK | 3.62 |
| 31 | Hemangioma, capillary infantile | Enrichment | KDR, RASA1 | 3.57 |
| 32 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.43 |
| 33 | Gallbladder cancer | Enrichment | BRAF, KRAS | 3.43 |
| 34 | Visceral myopathy 1 | Enrichment | ACTG2, MYLK | 3.40 |
| 35 | Melanoma, uveal | Enrichment | GNA11, PLCB4 | 3.22 |
| 36 | Typical nemaline myopathy | Enrichment | ACTA1, CFL2 | 3.22 |
| 37 | Primary hyperaldosteronism | Enrichment | BRAF, GNAS | 3.20 |
| 38 | Stroke, ischemic | Enrichment | NOS3, PRKCH | 3.10 |
| 39 | Non-immune hydrops fetalis | Enrichment | ACTA1, HRAS, KRAS | 3.00 |
| 40 | Microcephaly | Enrichment | ACTB, ACTG1, GNB1, MAPK1, PAK3 | 2.94 |
| 41 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS | 2.94 |
| 42 | Lung cancer susceptibility 3 | Enrichment | BRAF, KRAS | 2.80 |
| 43 | Hypertension, essential | Enrichment | GNB3, NOS3 | 2.63 |
| 44 | Arteriovenous malformations of the brain | Enrichment | BRAF, KRAS | 2.53 |
| 45 | Hypocalciuric hypercalcemia, familial, type ii | Enrichment | GNA11 | 2.37 |
| 46 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.37 |
| 47 | Oculoectodermal syndrome | Enrichment | KRAS | 2.37 |
| 48 | Pallister-killian syndrome | Enrichment | ARAF | 2.37 |
| 49 | Noonan syndrome 5 | Enrichment | RAF1 | 2.37 |
| 50 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.37 |
| 51 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.37 |
| 52 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.37 |
| 53 | Noonan syndrome 7 | Enrichment | BRAF | 2.37 |
| 54 | Leopard syndrome 3 | Enrichment | BRAF | 2.37 |
| 55 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.37 |
| 56 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.37 |
| 57 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.37 |
| 58 | Noonan syndrome 6 | Enrichment | NRAS | 2.37 |
| 59 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.37 |
| 60 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.37 |
| 61 | Noonan syndrome 11 | Enrichment | MRAS | 2.37 |
| 62 | Neurodevelopmental disorder with hypotonia and dysmorphic facies | Enrichment | GNB2 | 2.37 |
| 63 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.37 |
| 64 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.37 |
| 65 | Oculoskeletodental syndrome | Enrichment | PIK3C2A | 2.37 |
| 66 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.37 |
| 67 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.37 |
| 68 | Lymphangioma | Enrichment | BRAF | 2.37 |
| 69 | Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia | Enrichment | GNB5 | 2.37 |
| 70 | Phace association | Enrichment | BRAF | 2.37 |
| 71 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.37 |
| 72 | Melorheostosis | Enrichment | MAP2K1 | 2.37 |
| 73 | Leopard syndrome 2 | Enrichment | RAF1 | 2.37 |
| 74 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.37 |
| 75 | Long qt syndrome 16 | Enrichment | CALM3 | 2.37 |
| 76 | Hypocalcemia, autosomal dominant 2 | Enrichment | GNA11 | 2.37 |
| 77 | Charcot-marie-tooth disease, dominant intermediate f | Enrichment | GNB4 | 2.37 |
| 78 | Disorders of gnas inactivation | Enrichment | GNAS | 2.37 |
| 79 | Congenital heart defects and ectodermal dysplasia | Enrichment | PRKD1 | 2.37 |
| 80 | Thrombocytopenia 6 | Enrichment | SRC | 2.37 |
| 81 | Intellectual developmental disorder, autosomal dominant 42 | Enrichment | GNB1 | 2.37 |
| 82 | Sick sinus syndrome 4 | Enrichment | GNB2 | 2.37 |
| 83 | Trigonitis | Enrichment | RAF1 | 2.37 |
| 84 | Tufted angioma of skin | Enrichment | KDR | 2.37 |
| 85 | Long qt syndrome 15 | Enrichment | CALM2 | 2.37 |
| 86 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.37 |
| 87 | Gorham's disease | Enrichment | RASA1 | 2.37 |
| 88 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.37 |
| 89 | Ganglioglioma | Enrichment | BRAF | 2.37 |
| 90 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.37 |
| 91 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.37 |
| 92 | Phace syndrome | Enrichment | BRAF | 2.37 |
| 93 | Oculocerebrodental syndrome | Enrichment | PIK3C2A | 2.37 |
| 94 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.37 |
| 95 | Classic hairy cell leukemia | Enrichment | BRAF | 2.37 |
| 96 | Phakomatosis cesiomarmorata | Enrichment | GNA11 | 2.37 |
| 97 | Malignant epithelial tumor of salivary glands | Enrichment | PRKD1 | 2.37 |
| 98 | Kaposiform hemangioendothelioma | Enrichment | GNA14 | 2.37 |
| 99 | Mazabraud syndrome | Enrichment | GNAS | 2.37 |
| 100 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.37 |
| 101 | Colorectal cancer | Enrichment | BRAF, NRAS, SRC | 2.21 |
| 102 | Anhidrosis, isolated, with normal sweat glands | Enrichment | ITPR2 | 2.19 |
| 103 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.19 |
| 104 | Intellectual developmental disorder, x-linked 30 | Enrichment | PAK3 | 2.19 |
| 105 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 2.19 |
| 106 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.19 |
| 107 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.19 |
| 108 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.19 |
| 109 | Spondylometaphyseal dysplasia with corneal dystrophy | Enrichment | PLCB3 | 2.19 |
| 110 | Charcot-marie-tooth disease, demyelinating, type 1j | Enrichment | ITPR3 | 2.19 |
| 111 | Knobloch syndrome 2 | Enrichment | PAK2 | 2.19 |
| 112 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 2.19 |
| 113 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.19 |
| 114 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.19 |
| 115 | Auriculocondylar syndrome 2a | Enrichment | PLCB4 | 2.19 |
| 116 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 2.19 |
| 117 | Nemaline myopathy 7 | Enrichment | CFL2 | 2.19 |
| 118 | Becker nevus syndrome | Enrichment | ACTB | 2.19 |
| 119 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.19 |
| 120 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.19 |
| 121 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.19 |
| 122 | Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder | Enrichment | PLA2G4A | 2.19 |
| 123 | Dystonia 25 | Enrichment | GNAL | 2.19 |
| 124 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.19 |
| 125 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.19 |
| 126 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets | Enrichment | PLA2G4A | 2.19 |
| 127 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.19 |
| 128 | Noonan syndrome-like disorder with loose anagen hair 2 | Enrichment | PPP1CB | 2.19 |
| 129 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.19 |
| 130 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.19 |
| 131 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.19 |
| 132 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 2.19 |
| 133 | Auriculocondylar syndrome 2b | Enrichment | PLCB4 | 2.19 |
| 134 | Baraitser-winter syndrome | Enrichment | ACTB | 2.19 |
| 135 | Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy | Enrichment | ITPR3 | 2.19 |
| 136 | Zebra body myopathy | Enrichment | ACTA1 | 2.19 |
| 137 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 2.19 |
| 138 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.19 |
| 139 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 2.19 |
| 140 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.19 |
| 141 | Cryptogenic multifocal ulcerous stenosing enteritis | Enrichment | PLA2G4A | 2.19 |
| 142 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.19 |
| 143 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.19 |
| 144 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.19 |
| 145 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 2.19 |
| 146 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.19 |
| 147 | Bladder cancer | Enrichment | HRAS, KRAS | 2.17 |
| 148 | Long qt syndrome | Enrichment | CALM1, CALM2 | 2.11 |
| 149 | Centronuclear myopathy | Enrichment | ACTA1, CFL2 | 2.10 |
| 150 | Lung cancer | Enrichment | BRAF, KRAS | 2.09 |
| 151 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 2.07 |
| 152 | Scoliosis, isolated 1 | Enrichment | MAPK7 | 2.07 |
| 153 | Costello syndrome | Enrichment | HRAS | 2.07 |
| 154 | Cutis marmorata telangiectatica congenita | Enrichment | GNA11 | 2.07 |
| 155 | Pulmonic stenosis | Enrichment | BRAF | 2.07 |
| 156 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS | 2.07 |
| 157 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 2.07 |
| 158 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.07 |
| 159 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.07 |
| 160 | Night blindness, congenital stationary, type 1h | Enrichment | GNB3 | 2.07 |
| 161 | Long qt syndrome 14 | Enrichment | CALM1 | 2.07 |
| 162 | Noonan syndrome 12 | Enrichment | RRAS2 | 2.07 |
| 163 | Autosomal dominant hypocalcemia | Enrichment | GNA11 | 2.07 |
| 164 | Pseudohypoparathyroidism | Enrichment | GNAS | 2.07 |
| 165 | Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia | Enrichment | GNB5 | 2.07 |
| 166 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 2.07 |
| 167 | Tafro syndrome | Enrichment | MAP2K2 | 2.07 |
| 168 | Cerebral visual impairment | Enrichment | GNB1 | 2.07 |
| 169 | Phakomatosis cesioflammea | Enrichment | GNA11 | 2.07 |
| 170 | Wooly hair nevus | Enrichment | HRAS | 2.07 |
| 171 | Hydrops fetalis, nonimmune | Enrichment | ACTA1, HRAS | 1.92 |
| 172 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 1.90 |
| 173 | Mccune-albright syndrome | Enrichment | GNAS | 1.89 |
| 174 | Ataxia-telangiectasia | Enrichment | BRAF | 1.89 |
| 175 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | GNA11 | 1.89 |
| 176 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.89 |
| 177 | Wieacker-wolff syndrome | Enrichment | RASA1 | 1.89 |
| 178 | Spermatocytoma | Enrichment | HRAS | 1.89 |
| 179 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 1.89 |
| 180 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 1.89 |
| 181 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 1.89 |
| 182 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 1.89 |
| 183 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 1.89 |
| 184 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 1.89 |
| 185 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 1.89 |
| 186 | Moyamoya disease 5 | Enrichment | ACTA2 | 1.89 |
| 187 | Genitourinary and/or brain malformation syndrome | Enrichment | PPP1R12A | 1.89 |
| 188 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.89 |
| 189 | Noonan syndrome-like disorder with loose anagen hair | Enrichment | PPP1CB | 1.89 |
| 190 | Ocular melanoma | Enrichment | PLCB4 | 1.89 |
| 191 | Intestinal obstruction | Enrichment | ACTG2 | 1.89 |
| 192 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.77 |
| 193 | Spastic paraplegia 17, autosomal dominant | Enrichment | GNG3 | 1.77 |
| 194 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.77 |
| 195 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.77 |
| 196 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.77 |
| 197 | Lipodystrophy, congenital generalized, type 2 | Enrichment | GNG3 | 1.77 |
| 198 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.77 |
| 199 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.77 |
| 200 | Hereditary ataxia | Enrichment | PRKCG | 1.77 |
| 201 | Craniopharyngioma | Enrichment | BRAF | 1.77 |
| 202 | Pilocytic astrocytoma | Enrichment | KRAS | 1.77 |
| 203 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.77 |
| 204 | Epidermolytic nevus | Enrichment | HRAS | 1.77 |
| 205 | Familial sick sinus syndrome | Enrichment | GNB2 | 1.77 |
| 206 | Gillespie syndrome | Enrichment | ITPR1 | 1.72 |
| 207 | Aortic aneurysm, familial thoracic 7 | Enrichment | MYLK | 1.72 |
| 208 | Dystonia | Enrichment | GNAL, GNB1 | 1.68 |
| 209 | Alzheimer disease 2 | Enrichment | NOS3 | 1.67 |
| 210 | Pre-eclampsia | Enrichment | NOS3 | 1.67 |
| 211 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1, KRAS | 1.64 |
| 212 | Myeloma, multiple | Enrichment | BRAF, KRAS | 1.62 |
| 213 | Klippel-trenaunay-weber syndrome | Enrichment | RASA1 | 1.60 |
| 214 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.60 |
| 215 | Wilms tumor 5 | Enrichment | BRAF | 1.60 |
| 216 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.60 |
| 217 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.60 |
| 218 | Breast adenocarcinoma | Enrichment | KRAS | 1.60 |
| 219 | Lung squamous cell carcinoma | Enrichment | KRAS | 1.60 |
| 220 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.59 |
| 221 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.59 |
| 222 | Auriculocondylar syndrome 1 | Enrichment | PLCB4 | 1.59 |
| 223 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 1.59 |
| 224 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.59 |
| 225 | Developmental and epileptic encephalopathy 12 | Enrichment | PLCB1 | 1.59 |
| 226 | Knobloch syndrome | Enrichment | PAK2 | 1.59 |
| 227 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.59 |
| 228 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.59 |
| 229 | Primary ovarian insufficiency | Enrichment | KDR, NOS3 | 1.58 |
| 230 | Myelofibrosis | Enrichment | SRC | 1.53 |
| 231 | Brachydactyly | Enrichment | GNAS | 1.53 |
| 232 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.53 |
| 233 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.50 |
| 234 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.50 |
| 235 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | PAK6 | 1.50 |
| 236 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.50 |
| 237 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.50 |
| 238 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2, MYLK | 1.49 |
| 239 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.47 |
| 240 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.47 |
| 241 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.47 |
| 242 | Hypothyroidism | Enrichment | GNB1 | 1.47 |
| 243 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.42 |
| 244 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.42 |
| 245 | Ventricular septal defect | Enrichment | BRAF | 1.42 |
| 246 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.42 |
| 247 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.42 |
| 248 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 1.42 |
| 249 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 1.42 |
| 250 | Breast cancer | Enrichment | GNG3, KRAS | 1.39 |
| 251 | Melanoma | Enrichment | BRAF | 1.38 |
| 252 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.36 |
| 253 | Complex neurodevelopmental disorder | Enrichment | GNB2, PAK3, RAC3 | 1.34 |
| 254 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 1.34 |
| 255 | Leukemia, acute lymphoblastic | Enrichment | GNB1 | 1.34 |
| 256 | Myelodysplastic syndrome | Enrichment | GNB1 | 1.34 |
| 257 | Specific learning disability | Enrichment | MAPK1 | 1.34 |
| 258 | Mosaic variegated aneuploidy syndrome | Enrichment | PAK6 | 1.30 |
| 259 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.27 |
| 260 | Protein-deficiency anemia | Enrichment | NRAS | 1.27 |
| 261 | Developmental and epileptic encephalopathy 14 | Enrichment | PLCB1 | 1.25 |
| 262 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.25 |
| 263 | Familial thoracic aortic aneurysm and dissection | Enrichment | MYLK | 1.25 |
| 264 | Osteoporosis | Enrichment | SRC | 1.23 |
| 265 | Wilms tumor 1 | Enrichment | BRAF | 1.21 |
| 266 | Lynch syndrome | Enrichment | KRAS | 1.21 |
| 267 | Cat eye syndrome | Enrichment | ACTG1 | 1.21 |
| 268 | Nemaline myopathy | Enrichment | ACTA1 | 1.21 |
| 269 | Rhabdomyosarcoma | Enrichment | HRAS | 1.18 |
| 270 | Asthma | Enrichment | CCL11 | 1.17 |
| 271 | Ovarian cancer | Enrichment | KRAS, RRAS2 | 1.16 |
| 272 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 1.15 |
| 273 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.15 |
| 274 | Cleft palate, isolated | Enrichment | GNB1 | 1.15 |
| 275 | Dandy-walker syndrome | Enrichment | BRAF | 1.15 |
| 276 | Sudden infant death syndrome | Enrichment | CALM2 | 1.15 |
| 277 | Heart, malformation of | Enrichment | MAPK1 | 1.13 |
| 278 | Congenital long qt syndrome | Enrichment | ITPR3 | 1.13 |
| 279 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 1.11 |
| 280 | Autism spectrum disorder | Enrichment | GNB1, MAP2K1 | 1.10 |
| 281 | Multiple sclerosis | Enrichment | ITPR1 | 1.06 |
| 282 | Aortic aneurysm, familial thoracic 1 | Enrichment | MYLK | 1.06 |
| 283 | Attention deficit-hyperactivity disorder | Enrichment | GNB5 | 1.05 |
| 284 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.04 |
| 285 | Anterior segment dysgenesis | Enrichment | ITPR1 | 1.04 |
| 286 | Congenital stationary night blindness | Enrichment | GNB3 | 1.03 |
| 287 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.01 |
| 288 | Pancreatic cancer | Enrichment | KRAS | 0.99 |
| 289 | Tetralogy of fallot | Enrichment | KDR | 0.98 |
| 290 | Strabismus | Enrichment | GNB1 | 0.96 |
| 291 | Human immunodeficiency virus type 1 | Enrichment | CCL11 | 0.96 |
| 292 | Neuromuscular disease | Enrichment | ACTA1 | 0.96 |
| 293 | Congenital myopathy | Enrichment | ACTA1 | 0.94 |
| 294 | Williams-beuren syndrome | Enrichment | LIMK1 | 0.92 |
| 295 | Lissencephaly | Enrichment | ACTG1 | 0.90 |
| 296 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.88 |
| 297 | Left ventricular noncompaction | Enrichment | RAF1 | 0.86 |
| 298 | Cerebral palsy | Enrichment | GNB1 | 0.81 |
| 299 | Gastric cancer | Enrichment | KRAS | 0.77 |
| 300 | Hereditary breast carcinoma | Enrichment | KRAS | 0.76 |
| 301 | Thrombocytopenia | Enrichment | SRC | 0.73 |
| 302 | Connective tissue disease | Enrichment | ACTA2 | 0.73 |
| 303 | Body mass index quantitative trait locus 11 | Enrichment | GNAS | 0.71 |
| 304 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GNB1 | 0.71 |
| 305 | Cakut | Enrichment | ACTG1 | 0.71 |
| 306 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.69 |
| 307 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.68 |
| 308 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1 | 0.67 |
| 309 | Myopathy | Enrichment | ACTA1 | 0.64 |
| 310 | Benign epilepsy with centrotemporal spikes | Enrichment | PLCB1 | 0.63 |
| 311 | Distal arthrogryposis | Enrichment | ACTA1 | 0.63 |
| 312 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.63 |
| 313 | Centralopathic epilepsy | Enrichment | PLCB1 | 0.62 |
| 314 | West syndrome | Enrichment | PLCB1 | 0.61 |
| 315 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.55 |
| 316 | Spastic ataxia | Enrichment | ITPR1 | 0.54 |
| 317 | Undetermined early-onset epileptic encephalopathy | Enrichment | LIMK1 | 0.52 |
| 318 | Congenital nervous system abnormality | Enrichment | GNB5 | 0.44 |
| 319 | Nervous system disease | Enrichment | GNB5 | 0.44 |
| 320 | Rare genetic deafness | Enrichment | ACTG1 | 0.40 |