| 1 | Lissencephaly | Enrichment | ACTG1, TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB3 | 8.59 |
| 2 | Tubulinopathy-associated dysgyria | Enrichment | TUBA1A, TUBB2B, TUBB3 | 6.62 |
| 3 | Tubulinopathy | Enrichment | TUBA1A, TUBB2A, TUBB2B | 6.02 |
| 4 | Congenital fibrosis of the extraocular muscles | Enrichment | TUBA1A, TUBB2B, TUBB3 | 5.33 |
| 5 | Noonan syndrome 3 | Enrichment | HRAS, RAF1, SOS1 | 5.09 |
| 6 | Noonan syndrome 1 | Enrichment | HRAS, RAF1, SOS1, SOS2 | 4.94 |
| 7 | Rasopathy | Enrichment | HRAS, RAF1, SOS1, SOS2 | 4.71 |
| 8 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.41 |
| 9 | Anastomosing haemangioma | Enrichment | GNA11, GNA14 | 4.04 |
| 10 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, RAF1, SOS1 | 3.99 |
| 11 | Microcephaly | Enrichment | ACTB, ACTG1, CTNNB1, GNAO1, GNB1, TUBB4A | 3.92 |
| 12 | Achromatopsia 4 | Enrichment | GNAI3, GNAT2 | 3.75 |
| 13 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, CDC42 | 3.75 |
| 14 | Capillary malformations, congenital | Enrichment | GNA11, RASA1 | 3.46 |
| 15 | Congenital nervous system abnormality | Enrichment | CTNNB1, GNAO1, GNB5, TUBA1A, TUBB4A | 3.28 |
| 16 | Nervous system disease | Enrichment | CTNNB1, GNAO1, GNB5, TUBA1A, TUBB4A | 3.28 |
| 17 | Capillary malformation-arteriovenous malformation 1 | Enrichment | EPHB4, RASA1 | 3.14 |
| 18 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | TUBA1A, TUBB2B | 3.10 |
| 19 | Arteriovenous malformation | Enrichment | EPHB4, HRAS | 2.98 |
| 20 | Adult hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1 | 2.98 |
| 21 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 2.97 |
| 22 | Myopathy, x-linked, with excessive autophagy | Enrichment | EPHB4, HRAS | 2.88 |
| 23 | Bilateral perisylvian polymicrogyria | Enrichment | TUBA1A, TUBB2B | 2.87 |
| 24 | Autosomal dominant macrothrombocytopenia | Enrichment | TUBA8, TUBB1 | 2.77 |
| 25 | Cerebral palsy | Enrichment | GNB1, TUBA1A, TUBB4A | 2.73 |
| 26 | Juvenile myelomonocytic leukemia | Enrichment | CBL, RRAS | 2.65 |
| 27 | Rhabdomyosarcoma | Enrichment | CBL, HRAS | 2.46 |
| 28 | Lymphatic malformation 5 | Enrichment | EPHB4 | 2.26 |
| 29 | Hypocalciuric hypercalcemia, familial, type ii | Enrichment | GNA11 | 2.26 |
| 30 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.26 |
| 31 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 2.26 |
| 32 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.26 |
| 33 | Caudal duplication anomaly | Enrichment | AXIN1 | 2.26 |
| 34 | Neurodevelopmental disorder with involuntary movements | Enrichment | GNAO1 | 2.26 |
| 35 | Whim syndrome 1 | Enrichment | CXCR4 | 2.26 |
| 36 | Ventricular tachycardia, familial | Enrichment | GNAI2 | 2.26 |
| 37 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.26 |
| 38 | Neurodevelopmental disorder with hypotonia and dysmorphic facies | Enrichment | GNB2 | 2.26 |
| 39 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.26 |
| 40 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.26 |
| 41 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 2.26 |
| 42 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.26 |
| 43 | Craniofrontonasal syndrome | Enrichment | EFNB1 | 2.26 |
| 44 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 2.26 |
| 45 | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | Enrichment | GNAI1 | 2.26 |
| 46 | Developmental and epileptic encephalopathy 17 | Enrichment | GNAO1 | 2.26 |
| 47 | Prostate cancer/brain cancer susceptibility | Enrichment | EPHB2 | 2.26 |
| 48 | Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia | Enrichment | GNB5 | 2.26 |
| 49 | Night blindness, congenital stationary, autosomal dominant 3 | Enrichment | GNAT1 | 2.26 |
| 50 | Dystonia 25 | Enrichment | GNAL | 2.26 |
| 51 | Night blindness, congenital stationary, type 1g | Enrichment | GNAT1 | 2.26 |
| 52 | Hypocalcemia, autosomal dominant 2 | Enrichment | GNA11 | 2.26 |
| 53 | Charcot-marie-tooth disease, dominant intermediate f | Enrichment | GNB4 | 2.26 |
| 54 | Disorders of gnas inactivation | Enrichment | GNAS | 2.26 |
| 55 | Bleeding disorder, platelet-type, 22 | Enrichment | EPHB2 | 2.26 |
| 56 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.26 |
| 57 | Intellectual developmental disorder, autosomal dominant 42 | Enrichment | GNB1 | 2.26 |
| 58 | Sick sinus syndrome 4 | Enrichment | GNB2 | 2.26 |
| 59 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 2.26 |
| 60 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 2.26 |
| 61 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.26 |
| 62 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 2.26 |
| 63 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 2.26 |
| 64 | Nocarh syndrome | Enrichment | CDC42 | 2.26 |
| 65 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.26 |
| 66 | Gnao1-related disorder | Enrichment | GNAO1 | 2.26 |
| 67 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.26 |
| 68 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.26 |
| 69 | Phakomatosis cesiomarmorata | Enrichment | GNA11 | 2.26 |
| 70 | Kaposiform hemangioendothelioma | Enrichment | GNA14 | 2.26 |
| 71 | Mazabraud syndrome | Enrichment | GNAS | 2.26 |
| 72 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 2.26 |
| 73 | Ephb4-related lymphatic-related hydrops fetalis | Enrichment | EPHB4 | 2.26 |
| 74 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.26 |
| 75 | Vein of galen aneurysmal malformation | Enrichment | EPHB4 | 2.26 |
| 76 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.22 |
| 77 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.22 |
| 78 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.22 |
| 79 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.22 |
| 80 | Gorham's disease | Enrichment | RASA1 | 2.22 |
| 81 | Skin creases, congenital symmetric circumferential, 1 | Enrichment | TUBB | 2.20 |
| 82 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.20 |
| 83 | Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement | Enrichment | TUBB3 | 2.20 |
| 84 | Oligodontia-colorectal cancer syndrome | Enrichment | AXIN2 | 2.20 |
| 85 | Noonan syndrome 5 | Enrichment | RAF1 | 2.20 |
| 86 | Noonan syndrome 4 | Enrichment | SOS1 | 2.20 |
| 87 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.20 |
| 88 | Cortical dysplasia, complex, with other brain malformations 6 | Enrichment | TUBB | 2.20 |
| 89 | Noonan syndrome 9 | Enrichment | SOS2 | 2.20 |
| 90 | Macrothrombocytopenia, isolated, 1, autosomal dominant | Enrichment | TUBB1 | 2.20 |
| 91 | Wiskott-aldrich syndrome 2 | Enrichment | WIPF1 | 2.20 |
| 92 | Leber congenital amaurosis with early-onset deafness | Enrichment | TUBB4B | 2.20 |
| 93 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.20 |
| 94 | Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia | Enrichment | ARPC1B | 2.20 |
| 95 | Parkinson-dementia syndrome | Enrichment | MAPT | 2.20 |
| 96 | Oocyte/zygote/embryo maturation arrest 24 | Enrichment | TUBA1C | 2.20 |
| 97 | Supranuclear palsy, progressive, 1 | Enrichment | MAPT | 2.20 |
| 98 | Progressive supranuclear palsy | Enrichment | MAPT | 2.20 |
| 99 | Becker nevus syndrome | Enrichment | ACTB | 2.20 |
| 100 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.20 |
| 101 | Cortical dysplasia, complex, with other brain malformations 7 | Enrichment | TUBB2B | 2.20 |
| 102 | Leopard syndrome 2 | Enrichment | RAF1 | 2.20 |
| 103 | Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue | Enrichment | LIMS2 | 2.20 |
| 104 | Oocyte/zygote/embryo maturation arrest 23 | Enrichment | TUBA4A | 2.20 |
| 105 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 9 | Enrichment | TUBA4A | 2.20 |
| 106 | Thrombocytopenia 6 | Enrichment | SRC | 2.20 |
| 107 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | Enrichment | TUBB6 | 2.20 |
| 108 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.20 |
| 109 | Classic progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.20 |
| 110 | Trigonitis | Enrichment | RAF1 | 2.20 |
| 111 | Macrothrombocytopenia, isolated, 2, autosomal dominant | Enrichment | TUBA8 | 2.20 |
| 112 | Baraitser-winter syndrome | Enrichment | ACTB | 2.20 |
| 113 | Lissencephaly due to tuba1a mutation | Enrichment | TUBA1A | 2.20 |
| 114 | Congenital myopathy 26 | Enrichment | TUBA4A | 2.20 |
| 115 | Spastic ataxia 11, autosomal dominant | Enrichment | TUBA4A | 2.20 |
| 116 | Atypical progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.20 |
| 117 | Amyotrophic lateral sclerosis type 22 | Enrichment | TUBA4A | 2.20 |
| 118 | Polymicrogyria with optic nerve hypoplasia | Enrichment | TUBA8 | 2.20 |
| 119 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.20 |
| 120 | Autosomal recessive limb-girdle muscular dystrophy type 2w | Enrichment | LIMS2 | 2.20 |
| 121 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.20 |
| 122 | Hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1 | 2.19 |
| 123 | Congenital stationary night blindness | Enrichment | GNAT1, GNB3 | 2.15 |
| 124 | Hydrops fetalis, nonimmune | Enrichment | EPHB4, HRAS | 2.05 |
| 125 | Lymphatic malformation 1 | Enrichment | EPHB4 | 1.96 |
| 126 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 1.96 |
| 127 | Scoliosis, isolated 1 | Enrichment | MAPK7 | 1.96 |
| 128 | Costello syndrome | Enrichment | HRAS | 1.96 |
| 129 | Pituitary adenoma 4, acth-secreting | Enrichment | GNAI2 | 1.96 |
| 130 | Cutis marmorata telangiectatica congenita | Enrichment | GNA11 | 1.96 |
| 131 | Intracranial hypertension, idiopathic | Enrichment | EPHB4 | 1.96 |
| 132 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.96 |
| 133 | Ovarian germ cell cancer | Enrichment | CBL | 1.96 |
| 134 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS | 1.96 |
| 135 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 1.96 |
| 136 | Angioma, tufted | Enrichment | GNA14 | 1.96 |
| 137 | Night blindness, congenital stationary, type 1h | Enrichment | GNB3 | 1.96 |
| 138 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.96 |
| 139 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.96 |
| 140 | Autosomal dominant hypocalcemia | Enrichment | GNA11 | 1.96 |
| 141 | Pseudohypoparathyroidism | Enrichment | GNAS | 1.96 |
| 142 | Immune system disease | Enrichment | CDC42 | 1.96 |
| 143 | Hypopituitarism | Enrichment | GNAI2 | 1.96 |
| 144 | Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia | Enrichment | GNB5 | 1.96 |
| 145 | Hereditary lymphedema i | Enrichment | EPHB4 | 1.96 |
| 146 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.96 |
| 147 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 1.96 |
| 148 | Malignant germ cell tumor of ovary | Enrichment | CBL | 1.96 |
| 149 | Teratoma | Enrichment | CTNNB1 | 1.96 |
| 150 | Cerebral visual impairment | Enrichment | GNB1 | 1.96 |
| 151 | Phakomatosis cesioflammea | Enrichment | GNA11 | 1.96 |
| 152 | Wooly hair nevus | Enrichment | HRAS | 1.96 |
| 153 | Bladder cancer | Enrichment | CTNNB1, HRAS | 1.95 |
| 154 | Dystonia 4, torsion, autosomal dominant | Enrichment | TUBB4A | 1.90 |
| 155 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.90 |
| 156 | Wiskott-aldrich syndrome | Enrichment | WIPF1 | 1.90 |
| 157 | Pulmonic stenosis | Enrichment | SOS1 | 1.90 |
| 158 | Pick disease of brain | Enrichment | MAPT | 1.90 |
| 159 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 1.90 |
| 160 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 1.90 |
| 161 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | Enrichment | TUBA1A | 1.90 |
| 162 | Developmental delay, language impairment, and ocular abnormalities | Enrichment | ARPC4 | 1.90 |
| 163 | Keratoconus 9 | Enrichment | TUBA3D | 1.90 |
| 164 | Autosomal recessive limb-girdle muscular dystrophy type 2d | Enrichment | TUBA1A | 1.90 |
| 165 | Lissencephaly 3 | Enrichment | TUBA1A | 1.90 |
| 166 | Cortical dysplasia, complex, with other brain malformations 1 | Enrichment | TUBB3 | 1.90 |
| 167 | Immunodeficiency 113 with autoimmunity and autoinflammation | Enrichment | ARPC5 | 1.90 |
| 168 | Torsion dystonia 4 | Enrichment | TUBB4A | 1.90 |
| 169 | Multiple benign circumferential skin creases on limbs | Enrichment | TUBB | 1.90 |
| 170 | Immunodeficiency 133 | Enrichment | ARPC5 | 1.90 |
| 171 | Continuous spikes and waves during sleep | Enrichment | TUBA1A | 1.90 |
| 172 | Non-immune hydrops fetalis | Enrichment | EPHB4, HRAS | 1.90 |
| 173 | Dystonia | Enrichment | GNAL, GNB1 | 1.80 |
| 174 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.78 |
| 175 | Mccune-albright syndrome | Enrichment | GNAS | 1.78 |
| 176 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | GNA11 | 1.78 |
| 177 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.78 |
| 178 | Anus, imperforate | Enrichment | CTNNB1 | 1.78 |
| 179 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.78 |
| 180 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.78 |
| 181 | Desmoid tumor | Enrichment | CTNNB1 | 1.78 |
| 182 | Lymphatic malformation 7 | Enrichment | EPHB4 | 1.78 |
| 183 | Capillary malformation-arteriovenous malformation 2 | Enrichment | EPHB4 | 1.78 |
| 184 | Spermatocytoma | Enrichment | HRAS | 1.78 |
| 185 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 1.78 |
| 186 | Colorectal cancer | Enrichment | AXIN2, CTNNB1, SRC | 1.76 |
| 187 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.75 |
| 188 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.75 |
| 189 | Wieacker-wolff syndrome | Enrichment | RASA1 | 1.75 |
| 190 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.75 |
| 191 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | TUBB1 | 1.73 |
| 192 | Nuchal bleb, familial | Enrichment | SOS1 | 1.73 |
| 193 | Leukodystrophy, hypomyelinating, 6 | Enrichment | TUBB4A | 1.73 |
| 194 | Oocyte/zygote/embryo maturation arrest 2 | Enrichment | TUBB8 | 1.73 |
| 195 | Cortical dysplasia, complex, with other brain malformations 5 | Enrichment | TUBB2A | 1.73 |
| 196 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.66 |
| 197 | Intellectual developmental disorder, autosomal dominant 1 | Enrichment | ITSN1 | 1.66 |
| 198 | Spastic paraplegia 17, autosomal dominant | Enrichment | GNG3 | 1.66 |
| 199 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.66 |
| 200 | Auriculocondylar syndrome 1 | Enrichment | GNAI3 | 1.66 |
| 201 | Lipodystrophy, congenital generalized, type 2 | Enrichment | GNG3 | 1.66 |
| 202 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.66 |
| 203 | Pilomatrixoma | Enrichment | CTNNB1 | 1.66 |
| 204 | Au-kline syndrome | Enrichment | HNRNPK | 1.66 |
| 205 | Alazami syndrome | Enrichment | CTNNB1 | 1.66 |
| 206 | Craniopharyngioma | Enrichment | CTNNB1 | 1.66 |
| 207 | Epidermolytic nevus | Enrichment | HRAS | 1.66 |
| 208 | Familial sick sinus syndrome | Enrichment | GNB2 | 1.66 |
| 209 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.60 |
| 210 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.60 |
| 211 | Gingival fibromatosis | Enrichment | SOS1 | 1.60 |
| 212 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.60 |
| 213 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.60 |
| 214 | Hemifacial hyperplasia | Enrichment | EFNB1 | 1.56 |
| 215 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.56 |
| 216 | Night blindness, congenital stationary, type 1c | Enrichment | GNAT1 | 1.56 |
| 217 | Myeloproliferative neoplasm | Enrichment | CBL | 1.56 |
| 218 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.56 |
| 219 | Cataract 6, multiple types | Enrichment | EPHA2 | 1.53 |
| 220 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.53 |
| 221 | Aniridia | Enrichment | EPHA2 | 1.53 |
| 222 | Female infertility due to oocyte meiotic arrest | Enrichment | TUBB8 | 1.51 |
| 223 | Dementia | Enrichment | MAPT | 1.51 |
| 224 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.51 |
| 225 | West syndrome | Enrichment | GNAO1, TUBA1A | 1.51 |
| 226 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GNB1, ITSN1 | 1.51 |
| 227 | Melanoma, uveal | Enrichment | GNA11 | 1.49 |
| 228 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.49 |
| 229 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.49 |
| 230 | Klippel-trenaunay-weber syndrome | Enrichment | RASA1 | 1.45 |
| 231 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.45 |
| 232 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.45 |
| 233 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.45 |
| 234 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.45 |
| 235 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.45 |
| 236 | Thrombocytopenia | Enrichment | SRC, TUBB1 | 1.44 |
| 237 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | Enrichment | TUBB2B | 1.43 |
| 238 | Early myoclonic encephalopathy | Enrichment | TUBA1A | 1.43 |
| 239 | Nevus, epidermal | Enrichment | HRAS | 1.42 |
| 240 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.42 |
| 241 | Brachydactyly | Enrichment | GNAS | 1.42 |
| 242 | Gallbladder cancer | Enrichment | CTNNB1 | 1.42 |
| 243 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.42 |
| 244 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.39 |
| 245 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.39 |
| 246 | Myelofibrosis | Enrichment | SRC | 1.37 |
| 247 | Semantic dementia | Enrichment | MAPT | 1.37 |
| 248 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.37 |
| 249 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.36 |
| 250 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.36 |
| 251 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.36 |
| 252 | Hypothyroidism | Enrichment | GNB1 | 1.36 |
| 253 | Choreatic disease | Enrichment | GNAO1 | 1.36 |
| 254 | Early-onset posterior polar cataract | Enrichment | EPHA2 | 1.33 |
| 255 | Coronary heart disease 5 | Enrichment | KALRN | 1.31 |
| 256 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.31 |
| 257 | Primary hyperaldosteronism | Enrichment | GNAS | 1.31 |
| 258 | Cryptorchidism | Enrichment | TUBA1A | 1.31 |
| 259 | Achromatopsia | Enrichment | GNAT2 | 1.27 |
| 260 | Tooth agenesis, selective, 1 | Enrichment | AXIN2 | 1.26 |
| 261 | Cryptorchidism, unilateral or bilateral | Enrichment | TUBA1A | 1.26 |
| 262 | Progressive non-fluent aphasia | Enrichment | MAPT | 1.26 |
| 263 | Behavioral variant of frontotemporal dementia | Enrichment | MAPT | 1.26 |
| 264 | Leukemia, acute lymphoblastic | Enrichment | GNB1 | 1.23 |
| 265 | Myelodysplastic syndrome | Enrichment | GNB1 | 1.23 |
| 266 | Lung non-small cell carcinoma | Enrichment | HRAS | 1.23 |
| 267 | Movement disease | Enrichment | GNAO1 | 1.23 |
| 268 | Specific learning disability | Enrichment | MAPK1 | 1.23 |
| 269 | Cat eye syndrome | Enrichment | ACTG1 | 1.22 |
| 270 | Lip and oral cavity carcinoma | Enrichment | HRAS | 1.19 |
| 271 | Frontotemporal dementia 1 | Enrichment | MAPT | 1.18 |
| 272 | Combined immunodeficiency | Enrichment | ARPC1B | 1.18 |
| 273 | Combined t cell and b cell immunodeficiency | Enrichment | ARPC1B | 1.18 |
| 274 | Combined t and b cell immunodeficiency | Enrichment | ARPC1B | 1.18 |
| 275 | Congenital hypothyroidism | Enrichment | TUBB1 | 1.14 |
| 276 | Medulloblastoma | Enrichment | CTNNB1 | 1.13 |
| 277 | Cone-rod dystrophy 6 | Enrichment | GNAT2 | 1.13 |
| 278 | Neural tube defects | Enrichment | ITGB1 | 1.13 |
| 279 | Aortic valve disease 1 | Enrichment | SOS1 | 1.11 |
| 280 | Alzheimer's disease | Enrichment | MAPT | 1.11 |
| 281 | Rare genetic intellectual disability | Enrichment | GNAO1 | 1.10 |
| 282 | Cataract | Enrichment | EPHA2 | 1.09 |
| 283 | Osteoporosis | Enrichment | SRC | 1.07 |
| 284 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.07 |
| 285 | Hypertension, essential | Enrichment | GNB3 | 1.05 |
| 286 | Cleft palate, isolated | Enrichment | GNB1 | 1.05 |
| 287 | Polycystic liver disease | Enrichment | CTNNB1 | 1.05 |
| 288 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.05 |
| 289 | Corpus callosum, agenesis of | Enrichment | TUBA1A | 1.05 |
| 290 | Isolated corpus callosum agenesis | Enrichment | TUBA1A | 1.05 |
| 291 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | TUBA1A | 1.05 |
| 292 | Heart, malformation of | Enrichment | MAPK1 | 1.02 |
| 293 | Human immunodeficiency virus type 1 | Enrichment | CXCL12 | 1.02 |
| 294 | Early infantile developmental and epileptic encephalopathy | Enrichment | GNAO1 | 1.02 |
| 295 | Hydrocephalus, congenital, 1 | Enrichment | TUBB | 1.02 |
| 296 | Isolated congenital microcephaly | Enrichment | TUBA3E | 1.02 |
| 297 | Cataract 44 | Enrichment | EPHA2 | 1.01 |
| 298 | Esophageal atresia/tracheoesophageal fistula | Enrichment | ITSN1 | 1.00 |
| 299 | Alzheimer disease, familial, 1 | Enrichment | MAPT | 0.99 |
| 300 | Dandy-walker syndrome | Enrichment | TUBA1A | 0.99 |
| 301 | Early-onset nuclear cataract | Enrichment | EPHA2 | 0.99 |
| 302 | Hepatoblastoma | Enrichment | CTNNB1 | 0.96 |
| 303 | Attention deficit-hyperactivity disorder | Enrichment | GNB5 | 0.94 |
| 304 | Myocardial infarction | Enrichment | ITGB3 | 0.91 |
| 305 | Cone dystrophy | Enrichment | GNAT2 | 0.90 |
| 306 | Tooth agenesis | Enrichment | AXIN2 | 0.89 |
| 307 | Developmental and epileptic encephalopathy 1 | Enrichment | GNAO1 | 0.89 |
| 308 | Ovarian cancer | Enrichment | AXIN2, CTNNB1 | 0.88 |
| 309 | Tetralogy of fallot | Enrichment | EPHB4 | 0.87 |
| 310 | Strabismus | Enrichment | GNB1 | 0.86 |
| 311 | Parkinson disease, late-onset | Enrichment | MAPT | 0.85 |
| 312 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.85 |
| 313 | Prostate cancer | Enrichment | EPHB2 | 0.83 |
| 314 | Differentiated thyroid carcinoma | Enrichment | HRAS | 0.83 |
| 315 | Complex neurodevelopmental disorder | Enrichment | GNB2, RAC3 | 0.82 |
| 316 | Auditory neuropathy | Enrichment | TUBB4A | 0.82 |
| 317 | Hirschsprung disease 1 | Enrichment | AXIN2 | 0.78 |
| 318 | Eye disease | Enrichment | GNAT2 | 0.75 |
| 319 | Developmental and epileptic encephalopathy | Enrichment | GNAO1 | 0.74 |
| 320 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.73 |
| 321 | Cakut | Enrichment | ACTG1 | 0.72 |
| 322 | Left ventricular noncompaction | Enrichment | RAF1 | 0.70 |
| 323 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.69 |
| 324 | Fetal akinesia deformation sequence 1 | Enrichment | TUBA1A | 0.68 |
| 325 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.63 |
| 326 | Optic atrophy plus syndrome | Enrichment | TUBB6 | 0.62 |
| 327 | Body mass index quantitative trait locus 11 | Enrichment | GNAS | 0.62 |
| 328 | Hypertelorism | Enrichment | EFNB1 | 0.60 |
| 329 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.55 |
| 330 | Spastic ataxia | Enrichment | TUBB3 | 0.55 |
| 331 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.55 |
| 332 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MAPT | 0.51 |
| 333 | Breast cancer | Enrichment | GNG3 | 0.47 |
| 334 | Rare genetic deafness | Enrichment | ACTG1 | 0.41 |
| 335 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.40 |
| 336 | Leber plus disease | Enrichment | TUBB4B | 0.35 |
| 337 | Autism spectrum disorder | Enrichment | GNB1 | 0.34 |
| 338 | Hereditary retinal dystrophy | Enrichment | GNAT1, GNAT2 | 0.32 |
| 339 | Fundus dystrophy | Enrichment | GNAT1, GNAT2 | 0.32 |
| 340 | Inherited cancer-predisposing syndrome | Enrichment | AXIN2 | 0.25 |
| 341 | Retinitis pigmentosa | Enrichment | GNAT1 | 0.16 |