| 1 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.89 |
| 2 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 6.95 |
| 3 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 6.75 |
| 4 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS | 6.28 |
| 5 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A, CAMK2B, GRIN1, GRIN2B | 6.03 |
| 6 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS | 5.84 |
| 7 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.64 |
| 8 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS | 5.26 |
| 9 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 5.16 |
| 10 | Rasopathy | Enrichment | HRAS, KRAS, NRAS | 5.09 |
| 11 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 4.94 |
| 12 | Specific learning disability | Enrichment | MAPK1, RPS6KA3 | 4.90 |
| 13 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3 | 4.90 |
| 14 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.86 |
| 15 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 4.32 |
| 16 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.32 |
| 17 | Noonan syndrome 3 | Enrichment | HRAS, KRAS | 4.32 |
| 18 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 4.32 |
| 19 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 4.20 |
| 20 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 3.83 |
| 21 | Coffin-lowry syndrome | Enrichment | RPS6KA3 | 3.29 |
| 22 | Noonan syndrome 13 | Enrichment | MAPK1 | 3.29 |
| 23 | Intellectual developmental disorder, x-linked 19 | Enrichment | RPS6KA3 | 3.29 |
| 24 | Symptomatic form of coffin-lowry syndrome in female carriers | Enrichment | RPS6KA3 | 3.29 |
| 25 | Bladder cancer | Enrichment | HRAS, KRAS | 3.04 |
| 26 | Long qt syndrome | Enrichment | CALM1, CALM2 | 2.99 |
| 27 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.99 |
| 28 | Oculoectodermal syndrome | Enrichment | KRAS | 2.81 |
| 29 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | Enrichment | ACTN2 | 2.81 |
| 30 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.81 |
| 31 | Charcot-marie-tooth disease, demyelinating, type 1f | Enrichment | NEFL | 2.81 |
| 32 | Noonan syndrome 6 | Enrichment | NRAS | 2.81 |
| 33 | Developmental and epileptic encephalopathy 27 | Enrichment | GRIN2B | 2.81 |
| 34 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.81 |
| 35 | Intellectual developmental disorder, autosomal dominant 54 | Enrichment | CAMK2B | 2.81 |
| 36 | Congenital myopathy 8 | Enrichment | ACTN2 | 2.81 |
| 37 | Charcot-marie-tooth disease, dominant intermediate g | Enrichment | NEFL | 2.81 |
| 38 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.81 |
| 39 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | Enrichment | GRIN1 | 2.81 |
| 40 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | Enrichment | GRIN2B | 2.81 |
| 41 | Charcot-marie-tooth disease type 1f | Enrichment | NEFL | 2.81 |
| 42 | Long qt syndrome 16 | Enrichment | CALM3 | 2.81 |
| 43 | Developmental and epileptic encephalopathy 101 | Enrichment | GRIN1 | 2.81 |
| 44 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | Enrichment | GRIN1 | 2.81 |
| 45 | Myopathy, distal, 6, adult-onset, autosomal dominant | Enrichment | ACTN2 | 2.81 |
| 46 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.81 |
| 47 | Intellectual developmental disorder, autosomal dominant 59 | Enrichment | CAMK2G | 2.81 |
| 48 | Long qt syndrome 15 | Enrichment | CALM2 | 2.81 |
| 49 | Charcot-marie-tooth disease type 2b5 | Enrichment | NEFL | 2.81 |
| 50 | Grin2b-related neurodevelopmental disorder | Enrichment | GRIN2B | 2.81 |
| 51 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.81 |
| 52 | Intellectual disability, autosomal dominant 8 | Enrichment | GRIN1 | 2.81 |
| 53 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.81 |
| 54 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.81 |
| 55 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 2.76 |
| 56 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.69 |
| 57 | West syndrome | Enrichment | GRIN1, GRIN2B | 2.68 |
| 58 | Microcephaly | Enrichment | CAMK2B, GRIN2B, MAPK1 | 2.65 |
| 59 | Non-syndromic x-linked intellectual disability | Enrichment | DLG3, RPS6KA3 | 2.58 |
| 60 | Costello syndrome | Enrichment | HRAS | 2.51 |
| 61 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.51 |
| 62 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.51 |
| 63 | Long qt syndrome 14 | Enrichment | CALM1 | 2.51 |
| 64 | Intellectual developmental disorder, x-linked 90 | Enrichment | DLG3 | 2.51 |
| 65 | Bilateral generalized polymicrogyria | Enrichment | GRIN1 | 2.51 |
| 66 | Developmental and epileptic encephalopathy 46 | Enrichment | GRIN2D | 2.51 |
| 67 | Vulto-van silfhout-de vries syndrome | Enrichment | DLG4 | 2.51 |
| 68 | Wooly hair nevus | Enrichment | HRAS | 2.51 |
| 69 | Gastroesophageal reflux | Enrichment | RPS6KA3 | 2.38 |
| 70 | Orthostatic intolerance | Enrichment | RPS6KA3 | 2.38 |
| 71 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.37 |
| 72 | Ventricular septal defect | Enrichment | RPS6KA3 | 2.33 |
| 73 | Heart defects, congenital, and other congenital anomalies | Enrichment | DLG4 | 2.33 |
| 74 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.33 |
| 75 | Intellectual developmental disorder, autosomal dominant 62 | Enrichment | DLG4 | 2.33 |
| 76 | Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures | Enrichment | DLG4 | 2.33 |
| 77 | Intrinsic cardiomyopathy | Enrichment | ACTN2 | 2.33 |
| 78 | Dlg4-related synaptopathy | Enrichment | DLG4 | 2.33 |
| 79 | Spermatocytoma | Enrichment | HRAS | 2.33 |
| 80 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.21 |
| 81 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.21 |
| 82 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DLG4 | 2.21 |
| 83 | Astigmatism | Enrichment | GRIN2B | 2.21 |
| 84 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.21 |
| 85 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.21 |
| 86 | Pilocytic astrocytoma | Enrichment | KRAS | 2.21 |
| 87 | Epidermolytic nevus | Enrichment | HRAS | 2.21 |
| 88 | Melanoma of soft tissue | Enrichment | CREB1 | 2.19 |
| 89 | Charcot-marie-tooth disease, axonal, type 2e | Enrichment | NEFL | 2.11 |
| 90 | Sleep disorder | Enrichment | GRIN2B | 2.11 |
| 91 | Heart, malformation of | Enrichment | MAPK1 | 2.03 |
| 92 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 2.03 |
| 93 | Breast adenocarcinoma | Enrichment | KRAS | 2.03 |
| 94 | Lung squamous cell carcinoma | Enrichment | KRAS | 2.03 |
| 95 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS | 1.97 |
| 96 | Gallbladder cancer | Enrichment | KRAS | 1.97 |
| 97 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.97 |
| 98 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.91 |
| 99 | Arteriovenous malformation | Enrichment | HRAS | 1.86 |
| 100 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS | 1.81 |
| 101 | Complex neurodevelopmental disorder | Enrichment | DLG4, GRIN2B | 1.81 |
| 102 | Lip and oral cavity carcinoma | Enrichment | HRAS | 1.73 |
| 103 | Protein-deficiency anemia | Enrichment | NRAS | 1.70 |
| 104 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.67 |
| 105 | Cleft lip/palate | Enrichment | DLG1 | 1.67 |
| 106 | Lynch syndrome | Enrichment | KRAS | 1.64 |
| 107 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | ACTN2 | 1.61 |
| 108 | Rhabdomyosarcoma | Enrichment | HRAS | 1.61 |
| 109 | Sudden infant death syndrome | Enrichment | CALM2 | 1.58 |
| 110 | Hypertelorism | Enrichment | RPS6KA3 | 1.58 |
| 111 | Early infantile developmental and epileptic encephalopathy | Enrichment | GRIN1 | 1.56 |
| 112 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.54 |
| 113 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | NEFL | 1.54 |
| 114 | Craniosynostosis | Enrichment | GRIN2B | 1.52 |
| 115 | Scoliosis | Enrichment | GRIN2B | 1.44 |
| 116 | Pancreatic cancer | Enrichment | KRAS | 1.42 |
| 117 | Developmental and epileptic encephalopathy 1 | Enrichment | GRIN1 | 1.42 |
| 118 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.40 |
| 119 | Auditory neuropathy | Enrichment | NEFL | 1.40 |
| 120 | Lung cancer | Enrichment | KRAS | 1.31 |
| 121 | Peripheral nervous system disease | Enrichment | NEFL | 1.31 |
| 122 | Neuropathy | Enrichment | NEFL | 1.31 |
| 123 | Familial hypertrophic cardiomyopathy | Enrichment | ACTN2 | 1.30 |
| 124 | Left ventricular noncompaction | Enrichment | ACTN2 | 1.28 |
| 125 | Dystonia | Enrichment | CAMK2B | 1.28 |
| 126 | Cerebral palsy | Enrichment | GRIN2B | 1.23 |
| 127 | Epilepsy | Enrichment | GRIN2B | 1.22 |
| 128 | Charcot-marie-tooth disease | Enrichment | NEFL | 1.21 |
| 129 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN1 | 1.21 |
| 130 | Centralopathic epilepsy | Enrichment | GRIN1 | 1.19 |
| 131 | Gastric cancer | Enrichment | KRAS | 1.19 |
| 132 | Hypertrophic cardiomyopathy | Enrichment | ACTN2 | 1.19 |
| 133 | Hereditary breast carcinoma | Enrichment | KRAS | 1.18 |
| 134 | Sensorineural hearing loss | Enrichment | NEFL | 1.14 |
| 135 | Familial isolated dilated cardiomyopathy | Enrichment | ACTN2 | 1.10 |
| 136 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 1.09 |
| 137 | Myeloma, multiple | Enrichment | KRAS | 1.08 |
| 138 | Undetermined early-onset epileptic encephalopathy | Enrichment | GRIN2D | 1.08 |
| 139 | Autosomal recessive non-syndromic intellectual disability | Enrichment | GRIN1 | 1.06 |
| 140 | Schizophrenia | Enrichment | DLG2 | 1.06 |
| 141 | Autism | Enrichment | CAMK2G | 0.98 |
| 142 | Breast cancer | Enrichment | KRAS | 0.96 |
| 143 | Dilated cardiomyopathy | Enrichment | ACTN2 | 0.93 |
| 144 | Colorectal cancer | Enrichment | NRAS | 0.90 |
| 145 | Ovarian cancer | Enrichment | KRAS | 0.84 |
| 146 | Congenital nervous system abnormality | Enrichment | CAMK2B | 0.82 |
| 147 | Nervous system disease | Enrichment | CAMK2B | 0.82 |
| 148 | Autism spectrum disorder | Enrichment | GRIN2B | 0.81 |