| 1 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 7.95 |
| 2 | Tubulinopathy-associated dysgyria | Enrichment | TUBA1A, TUBB2B, TUBB3 | 7.53 |
| 3 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A, CAMK2B, ERBB4, GRIA1, GRIN1, GRIN2B, NBEA | 7.32 |
| 4 | Tubulinopathy | Enrichment | TUBA1A, TUBB2A, TUBB2B | 6.93 |
| 5 | Lissencephaly | Enrichment | TUBA1A, TUBA3E, TUBB2B, TUBB3 | 6.30 |
| 6 | Congenital fibrosis of the extraocular muscles | Enrichment | TUBA1A, TUBB2B, TUBB3 | 6.23 |
| 7 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3 | 6.09 |
| 8 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 6.09 |
| 9 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 5.15 |
| 10 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS | 4.49 |
| 11 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.45 |
| 12 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS | 4.05 |
| 13 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 3.98 |
| 14 | Long qt syndrome | Enrichment | CALM1, CALM2 | 3.74 |
| 15 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | TUBA1A, TUBB2B | 3.69 |
| 16 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.68 |
| 17 | West syndrome | Enrichment | GRIA3, GRIN1, GRIN2B, TUBA1A | 3.62 |
| 18 | Cerebral palsy | Enrichment | GRIN2B, TUBA1A, TUBB4A | 3.60 |
| 19 | Epilepsy | Enrichment | GRIN2A, GRIN2B, NBEA | 3.57 |
| 20 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS | 3.48 |
| 21 | Congenital nervous system abnormality | Enrichment | CAMK2B, CASK, TUBA1A, TUBB4A | 3.46 |
| 22 | Nervous system disease | Enrichment | CAMK2B, CASK, TUBA1A, TUBB4A | 3.46 |
| 23 | Bilateral perisylvian polymicrogyria | Enrichment | TUBA1A, TUBB2B | 3.46 |
| 24 | Autosomal dominant macrothrombocytopenia | Enrichment | TUBA8, TUBB1 | 3.36 |
| 25 | Rasopathy | Enrichment | HRAS, KRAS, NRAS | 3.32 |
| 26 | Microcephaly | Enrichment | CAMK2B, CASK, GRIN2B, TUBB4A | 3.22 |
| 27 | Long qt syndrome 16 | Enrichment | CALM3 | 3.18 |
| 28 | Long qt syndrome 15 | Enrichment | CALM2 | 3.18 |
| 29 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 3.18 |
| 30 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 3.17 |
| 31 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 3.14 |
| 32 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.14 |
| 33 | Noonan syndrome 3 | Enrichment | HRAS, KRAS | 3.14 |
| 34 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 3.14 |
| 35 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 3.02 |
| 36 | Isolated congenital microcephaly | Enrichment | CASK, TUBA3E | 2.94 |
| 37 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 2.91 |
| 38 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.88 |
| 39 | Long qt syndrome 14 | Enrichment | CALM1 | 2.88 |
| 40 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.88 |
| 41 | Early infantile developmental and epileptic encephalopathy | Enrichment | CASK, GRIN1 | 2.84 |
| 42 | Dystonia | Enrichment | CAMK2B, CASK, GRIA3 | 2.75 |
| 43 | Specific learning disability | Enrichment | MAPK1, RPS6KA3 | 2.73 |
| 44 | Non-syndromic x-linked intellectual disability | Enrichment | CASK, DLG3, RPS6KA3 | 2.71 |
| 45 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 2.65 |
| 46 | Auditory neuropathy | Enrichment | NEFL, TUBB4A | 2.52 |
| 47 | Epilepsy, focal, with speech disorder and with or without impaired intellectual development | Enrichment | GRIN2A | 2.50 |
| 48 | Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement | Enrichment | TUBB3 | 2.50 |
| 49 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | Enrichment | ACTN2 | 2.50 |
| 50 | Macrothrombocytopenia, isolated, 1, autosomal dominant | Enrichment | TUBB1 | 2.50 |
| 51 | Charcot-marie-tooth disease, demyelinating, type 1f | Enrichment | NEFL | 2.50 |
| 52 | Developmental and epileptic encephalopathy 27 | Enrichment | GRIN2B | 2.50 |
| 53 | Leber congenital amaurosis with early-onset deafness | Enrichment | TUBB4B | 2.50 |
| 54 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.50 |
| 55 | Intellectual developmental disorder, autosomal dominant 54 | Enrichment | CAMK2B | 2.50 |
| 56 | Congenital myopathy 8 | Enrichment | ACTN2 | 2.50 |
| 57 | Charcot-marie-tooth disease, dominant intermediate g | Enrichment | NEFL | 2.50 |
| 58 | Oocyte/zygote/embryo maturation arrest 24 | Enrichment | TUBA1C | 2.50 |
| 59 | Neurodevelopmental disorder with or without early-onset generalized epilepsy | Enrichment | NBEA | 2.50 |
| 60 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | Enrichment | GRIN1 | 2.50 |
| 61 | Cortical dysplasia, complex, with other brain malformations 7 | Enrichment | TUBB2B | 2.50 |
| 62 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | Enrichment | GRIN2B | 2.50 |
| 63 | Charcot-marie-tooth disease type 1f | Enrichment | NEFL | 2.50 |
| 64 | Oocyte/zygote/embryo maturation arrest 23 | Enrichment | TUBA4A | 2.50 |
| 65 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 9 | Enrichment | TUBA4A | 2.50 |
| 66 | Developmental and epileptic encephalopathy 101 | Enrichment | GRIN1 | 2.50 |
| 67 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | Enrichment | GRIN1 | 2.50 |
| 68 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | Enrichment | TUBB6 | 2.50 |
| 69 | Myopathy, distal, 6, adult-onset, autosomal dominant | Enrichment | ACTN2 | 2.50 |
| 70 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.50 |
| 71 | Intellectual developmental disorder, autosomal dominant 59 | Enrichment | CAMK2G | 2.50 |
| 72 | Macrothrombocytopenia, isolated, 2, autosomal dominant | Enrichment | TUBA8 | 2.50 |
| 73 | Lissencephaly due to tuba1a mutation | Enrichment | TUBA1A | 2.50 |
| 74 | Congenital myopathy 26 | Enrichment | TUBA4A | 2.50 |
| 75 | Spastic ataxia 11, autosomal dominant | Enrichment | TUBA4A | 2.50 |
| 76 | Amyotrophic lateral sclerosis type 22 | Enrichment | TUBA4A | 2.50 |
| 77 | Charcot-marie-tooth disease type 2b5 | Enrichment | NEFL | 2.50 |
| 78 | Grin2b-related neurodevelopmental disorder | Enrichment | GRIN2B | 2.50 |
| 79 | Landau-kleffner syndrome | Enrichment | GRIN2A | 2.50 |
| 80 | Cask-related intellectual disability | Enrichment | CASK | 2.50 |
| 81 | Polymicrogyria with optic nerve hypoplasia | Enrichment | TUBA8 | 2.50 |
| 82 | Intellectual disability, autosomal dominant 8 | Enrichment | GRIN1 | 2.50 |
| 83 | Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation | Enrichment | GRIN2A | 2.50 |
| 84 | Grin2a-related disorders | Enrichment | GRIN2A | 2.50 |
| 85 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 2.40 |
| 86 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 2.28 |
| 87 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 2.22 |
| 88 | Acrodysostosis 1 with or without hormone resistance | Enrichment | PRKAR1A | 2.22 |
| 89 | Coffin-lowry syndrome | Enrichment | RPS6KA3 | 2.22 |
| 90 | Oculoectodermal syndrome | Enrichment | KRAS | 2.22 |
| 91 | Carney complex, type 1 | Enrichment | PRKAR1A | 2.22 |
| 92 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.22 |
| 93 | Noonan syndrome 6 | Enrichment | NRAS | 2.22 |
| 94 | Deafness, autosomal recessive 44 | Enrichment | ADCY1 | 2.22 |
| 95 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.22 |
| 96 | Intellectual developmental disorder, x-linked 19 | Enrichment | RPS6KA3 | 2.22 |
| 97 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.22 |
| 98 | Cardiomyopathy, familial hypertrophic, 6 | Enrichment | PRKAG2 | 2.22 |
| 99 | Myxoma, intracardiac | Enrichment | PRKAR1A | 2.22 |
| 100 | Glycogen storage disease of heart, lethal congenital | Enrichment | PRKAG2 | 2.22 |
| 101 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.22 |
| 102 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 2.22 |
| 103 | Neurodevelopmental disorder with language impairment and behavioral abnormalities | Enrichment | GRIA2 | 2.22 |
| 104 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.22 |
| 105 | Skeletal muscle glycogen content and metabolism quantitative trait locus | Enrichment | PRKAG3 | 2.22 |
| 106 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.22 |
| 107 | Thrombocytopenia 6 | Enrichment | SRC | 2.22 |
| 108 | Intellectual developmental disorder, autosomal dominant 67 | Enrichment | GRIA1 | 2.22 |
| 109 | Intellectual developmental disorder, autosomal recessive 76 | Enrichment | GRIA1 | 2.22 |
| 110 | Symptomatic form of coffin-lowry syndrome in female carriers | Enrichment | RPS6KA3 | 2.22 |
| 111 | Prkar1b-related neurodegenerative dementia with intermediate filaments | Enrichment | PRKAR1B | 2.22 |
| 112 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.22 |
| 113 | Gria2-related neurodevelopmental disorder | Enrichment | GRIA2 | 2.22 |
| 114 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.22 |
| 115 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.22 |
| 116 | Dystonia 4, torsion, autosomal dominant | Enrichment | TUBB4A | 2.20 |
| 117 | Fg syndrome 4 | Enrichment | CASK | 2.20 |
| 118 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | Enrichment | TUBA1A | 2.20 |
| 119 | Intellectual developmental disorder, x-linked 90 | Enrichment | DLG3 | 2.20 |
| 120 | Cerebellar, ocular, craniofacial, and genital syndrome | Enrichment | NBEA | 2.20 |
| 121 | Keratoconus 9 | Enrichment | TUBA3D | 2.20 |
| 122 | Autosomal recessive limb-girdle muscular dystrophy type 2d | Enrichment | TUBA1A | 2.20 |
| 123 | Bilateral generalized polymicrogyria | Enrichment | GRIN1 | 2.20 |
| 124 | Lissencephaly 3 | Enrichment | TUBA1A | 2.20 |
| 125 | Intellectual developmental disorder, autosomal dominant 21 | Enrichment | GRIN2A | 2.20 |
| 126 | Developmental and epileptic encephalopathy 46 | Enrichment | GRIN2D | 2.20 |
| 127 | Syndromic x-linked intellectual disability | Enrichment | CASK | 2.20 |
| 128 | Vulto-van silfhout-de vries syndrome | Enrichment | DLG4 | 2.20 |
| 129 | Cortical dysplasia, complex, with other brain malformations 1 | Enrichment | TUBB3 | 2.20 |
| 130 | Torsion dystonia 4 | Enrichment | TUBB4A | 2.20 |
| 131 | Rolandic epilepsy-speech dyspraxia syndrome | Enrichment | GRIN2A | 2.20 |
| 132 | Continuous spikes and waves during sleep | Enrichment | TUBA1A | 2.20 |
| 133 | Epilepsy-aphasia spectrum | Enrichment | GRIN2A | 2.20 |
| 134 | Intellectual developmental disorder, x-linked, syndromic, wu type | Enrichment | GRIA3 | 2.16 |
| 135 | Neurodevelopmental disorder with or without seizures and gait abnormalities | Enrichment | GRIA4 | 2.16 |
| 136 | Syndromic x-linked intellectual disability 94 | Enrichment | GRIA3 | 2.16 |
| 137 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN1, GRIN2A | 2.13 |
| 138 | Centralopathic epilepsy | Enrichment | GRIN1, GRIN2A | 2.09 |
| 139 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | TUBB1 | 2.02 |
| 140 | Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia | Enrichment | CASK | 2.02 |
| 141 | Heart defects, congenital, and other congenital anomalies | Enrichment | DLG4 | 2.02 |
| 142 | Leukodystrophy, hypomyelinating, 6 | Enrichment | TUBB4A | 2.02 |
| 143 | Oocyte/zygote/embryo maturation arrest 2 | Enrichment | TUBB8 | 2.02 |
| 144 | Cortical dysplasia, complex, with other brain malformations 5 | Enrichment | TUBB2A | 2.02 |
| 145 | Auditory neuropathy and optic atrophy | Enrichment | GRIN2C | 2.02 |
| 146 | Intellectual developmental disorder, autosomal dominant 62 | Enrichment | DLG4 | 2.02 |
| 147 | Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures | Enrichment | DLG4 | 2.02 |
| 148 | Intrinsic cardiomyopathy | Enrichment | ACTN2 | 2.02 |
| 149 | Syndromic x-linked intellectual disability najm type | Enrichment | CASK | 2.02 |
| 150 | Cerebellar disease | Enrichment | CASK | 2.02 |
| 151 | Dlg4-related synaptopathy | Enrichment | DLG4 | 2.02 |
| 152 | Sudden infant death syndrome | Enrichment | CALM2 | 1.95 |
| 153 | Costello syndrome | Enrichment | HRAS | 1.92 |
| 154 | Amelogenesis imperfecta, type ig | Enrichment | PRKAR1A | 1.92 |
| 155 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.92 |
| 156 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | PRKAR1A | 1.92 |
| 157 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.92 |
| 158 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 1.92 |
| 159 | Marbach-schaaf neurodevelopmental syndrome | Enrichment | PRKAR1B | 1.92 |
| 160 | Usher syndrome, type iv | Enrichment | PRKAR1A | 1.92 |
| 161 | Acrodysostosis | Enrichment | PRKAR1A | 1.92 |
| 162 | Fibrolamellar carcinoma | Enrichment | PRKACA | 1.92 |
| 163 | Ciliary dyskinesia, primary, 18 | Enrichment | PRKAR1B | 1.92 |
| 164 | Isolated primary pigmented nodular adrenocortical disease | Enrichment | PRKAR1A | 1.92 |
| 165 | Wooly hair nevus | Enrichment | HRAS | 1.92 |
| 166 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DLG4 | 1.90 |
| 167 | Astigmatism | Enrichment | GRIN2B | 1.90 |
| 168 | Bladder cancer | Enrichment | HRAS, KRAS | 1.89 |
| 169 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 1.83 |
| 170 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | CASK | 1.80 |
| 171 | Charcot-marie-tooth disease, axonal, type 2e | Enrichment | NEFL | 1.80 |
| 172 | Female infertility due to oocyte meiotic arrest | Enrichment | TUBB8 | 1.80 |
| 173 | Sleep disorder | Enrichment | GRIN2B | 1.80 |
| 174 | Familial hypertrophic cardiomyopathy | Enrichment | ACTN2, PRKAG2 | 1.78 |
| 175 | Langerhans cell histiocytosis | Enrichment | NRAS | 1.75 |
| 176 | Spermatocytoma | Enrichment | HRAS | 1.75 |
| 177 | Melanoma of soft tissue | Enrichment | CREB1 | 1.75 |
| 178 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | Enrichment | TUBB2B | 1.72 |
| 179 | Early myoclonic encephalopathy | Enrichment | TUBA1A | 1.72 |
| 180 | Autism | Enrichment | CAMK2G, NBEA | 1.66 |
| 181 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 1.63 |
| 182 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.63 |
| 183 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.63 |
| 184 | Carney complex variant | Enrichment | PRKAR1A | 1.63 |
| 185 | Arrhythmogenic right ventricular dysplasia, familial, 10 | Enrichment | PRKAR1A | 1.63 |
| 186 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 1.63 |
| 187 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.63 |
| 188 | Pilocytic astrocytoma | Enrichment | KRAS | 1.63 |
| 189 | Epidermolytic nevus | Enrichment | HRAS | 1.63 |
| 190 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 1.62 |
| 191 | Cryptorchidism | Enrichment | TUBA1A | 1.60 |
| 192 | Hypertrophic cardiomyopathy | Enrichment | ACTN2, PRKAG2 | 1.57 |
| 193 | Mulibrey nanism | Enrichment | PPM1E | 1.56 |
| 194 | Cryptorchidism, unilateral or bilateral | Enrichment | TUBA1A | 1.55 |
| 195 | Thrombocytopenia | Enrichment | SRC, TUBB1 | 1.48 |
| 196 | Adrenocortical carcinoma | Enrichment | PRKAR1A | 1.45 |
| 197 | Breast adenocarcinoma | Enrichment | KRAS | 1.45 |
| 198 | Lung squamous cell carcinoma | Enrichment | KRAS | 1.45 |
| 199 | Congenital hypothyroidism | Enrichment | TUBB1 | 1.43 |
| 200 | Autism spectrum disorder | Enrichment | GRIA1, GRIN2B, NBEA | 1.40 |
| 201 | Myelofibrosis | Enrichment | SRC | 1.39 |
| 202 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS | 1.39 |
| 203 | Gallbladder cancer | Enrichment | KRAS | 1.39 |
| 204 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.39 |
| 205 | Cleft lip/palate | Enrichment | DLG1 | 1.36 |
| 206 | Corpus callosum, agenesis of | Enrichment | TUBA1A | 1.33 |
| 207 | Isolated corpus callosum agenesis | Enrichment | TUBA1A | 1.33 |
| 208 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | TUBA1A | 1.33 |
| 209 | Gastroesophageal reflux | Enrichment | RPS6KA3 | 1.33 |
| 210 | Orthostatic intolerance | Enrichment | RPS6KA3 | 1.33 |
| 211 | Autosomal recessive non-syndromic intellectual disability | Enrichment | GRIA1, GRIN1 | 1.33 |
| 212 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | CASK | 1.30 |
| 213 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | ACTN2 | 1.30 |
| 214 | Arteriovenous malformation | Enrichment | HRAS | 1.28 |
| 215 | Ventricular septal defect | Enrichment | RPS6KA3 | 1.28 |
| 216 | Dandy-walker syndrome | Enrichment | TUBA1A | 1.28 |
| 217 | Complex neurodevelopmental disorder | Enrichment | DLG4, GRIA4, GRIN2B | 1.26 |
| 218 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS | 1.24 |
| 219 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | NEFL | 1.23 |
| 220 | Craniosynostosis | Enrichment | GRIN2B | 1.21 |
| 221 | Lip and oral cavity carcinoma | Enrichment | HRAS | 1.16 |
| 222 | Scoliosis | Enrichment | GRIN2B | 1.13 |
| 223 | Acute promyelocytic leukemia | Enrichment | PRKAR1A | 1.13 |
| 224 | Protein-deficiency anemia | Enrichment | NRAS | 1.13 |
| 225 | Nk-cell enteropathy | Enrichment | ERBB4 | 1.13 |
| 226 | Developmental and epileptic encephalopathy 1 | Enrichment | GRIN1 | 1.12 |
| 227 | Osteoporosis | Enrichment | SRC | 1.09 |
| 228 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.09 |
| 229 | Lynch syndrome | Enrichment | KRAS | 1.07 |
| 230 | Wolff-parkinson-white syndrome | Enrichment | PRKAG2 | 1.04 |
| 231 | Rhabdomyosarcoma | Enrichment | HRAS | 1.04 |
| 232 | Colorectal cancer | Enrichment | NRAS, SRC | 1.02 |
| 233 | Peripheral nervous system disease | Enrichment | NEFL | 1.01 |
| 234 | Neuropathy | Enrichment | NEFL | 1.01 |
| 235 | Heart, malformation of | Enrichment | MAPK1 | 0.99 |
| 236 | Left ventricular noncompaction | Enrichment | ACTN2 | 0.98 |
| 237 | Arteriovenous malformations of the brain | Enrichment | KRAS | 0.97 |
| 238 | Fetal akinesia deformation sequence 1 | Enrichment | TUBA1A | 0.95 |
| 239 | Charcot-marie-tooth disease | Enrichment | NEFL | 0.91 |
| 240 | Optic atrophy plus syndrome | Enrichment | TUBB6 | 0.88 |
| 241 | Pancreatic cancer | Enrichment | KRAS | 0.86 |
| 242 | Sensorineural hearing loss | Enrichment | NEFL | 0.85 |
| 243 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.84 |
| 244 | Spastic ataxia | Enrichment | TUBB3 | 0.81 |
| 245 | Familial isolated dilated cardiomyopathy | Enrichment | ACTN2 | 0.81 |
| 246 | Undetermined early-onset epileptic encephalopathy | Enrichment | GRIN2D | 0.79 |
| 247 | Schizophrenia | Enrichment | DLG2 | 0.77 |
| 248 | Lung cancer | Enrichment | KRAS | 0.76 |
| 249 | Developmental and epileptic encephalopathy | Enrichment | GRIA3 | 0.65 |
| 250 | Dilated cardiomyopathy | Enrichment | ACTN2 | 0.65 |
| 251 | Gastric cancer | Enrichment | KRAS | 0.64 |
| 252 | Hereditary breast carcinoma | Enrichment | KRAS | 0.63 |
| 253 | Leber plus disease | Enrichment | TUBB4B | 0.58 |
| 254 | Hypertelorism | Enrichment | RPS6KA3 | 0.57 |
| 255 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.55 |
| 256 | Myeloma, multiple | Enrichment | KRAS | 0.54 |
| 257 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4 | 0.53 |
| 258 | Body mass index quantitative trait locus 11 | Enrichment | GRIA4 | 0.53 |
| 259 | Breast cancer | Enrichment | KRAS | 0.44 |
| 260 | Primary ciliary dyskinesia | Enrichment | PRKAR1B | 0.44 |
| 261 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | ADCY1 | 0.38 |
| 262 | Ovarian cancer | Enrichment | KRAS | 0.34 |
| 263 | Inherited cancer-predisposing syndrome | Enrichment | PRKAR1A | 0.26 |