| 1 | Rasopathy | Enrichment | BRAF, HRAS, KRAS, MAP2K1, NRAS, SOS1 | 10.69 |
| 2 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, KRAS, MAP2K1, NRAS, SOS1 | 10.56 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, KRAS, MAP2K1, NRAS, SOS1 | 10.54 |
| 4 | Focal cortical dysplasia, type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 10.33 |
| 5 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 10.33 |
| 6 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, KRAS, MAP2K1, NRAS | 10.29 |
| 7 | Hemimegalencephaly | Enrichment | AKT3, MTOR, PTEN, RHEB | 10.07 |
| 8 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 7.88 |
| 9 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.28 |
| 10 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1 | 7.28 |
| 11 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1 | 7.28 |
| 12 | Bladder cancer | Enrichment | KRAS, NF1, PTEN, TSC1 | 6.54 |
| 13 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 6.34 |
| 14 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS | 6.34 |
| 15 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 6.34 |
| 16 | Pilomyxoid astrocytoma | Enrichment | BRAF, KRAS, NTRK2 | 6.34 |
| 17 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS | 6.34 |
| 18 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS, KRAS, NRAS | 6.18 |
| 19 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, NRAS | 6.14 |
| 20 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NF1, NRAS | 5.82 |
| 21 | Lymphangioleiomyomatosis | Enrichment | TSC1, TSC2 | 5.42 |
| 22 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.42 |
| 23 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 5.24 |
| 24 | Tuberous sclerosis 1 | Enrichment | TSC1, TSC2 | 4.94 |
| 25 | Hamartoma | Enrichment | TSC1, TSC2 | 4.94 |
| 26 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.76 |
| 27 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.64 |
| 28 | Tuberous sclerosis | Enrichment | TSC1, TSC2 | 4.64 |
| 29 | Pilocytic astrocytoma | Enrichment | KRAS, NF1 | 4.64 |
| 30 | Ovarian cancer | Enrichment | AKT1, KRAS, PTEN, TSC2 | 4.35 |
| 31 | Breast adenocarcinoma | Enrichment | AKT1, KRAS | 4.24 |
| 32 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.10 |
| 33 | Gastric cancer | Enrichment | KRAS, NF1, PTEN | 4.08 |
| 34 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PTEN | 4.05 |
| 35 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 3.92 |
| 36 | Gallbladder cancer | Enrichment | BRAF, KRAS | 3.92 |
| 37 | Inherited cancer-predisposing syndrome | Enrichment | NF1, PTEN, TSC1, TSC2 | 3.90 |
| 38 | Adult hepatocellular carcinoma | Enrichment | TSC1, TSC2 | 3.87 |
| 39 | Cowden syndrome | Enrichment | AKT1, PTEN | 3.87 |
| 40 | West syndrome | Enrichment | GRIN1, NTRK2, TSC2 | 3.79 |
| 41 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, NF1, PTEN | 3.76 |
| 42 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 3.69 |
| 43 | Meningioma | Enrichment | AKT1, PTEN | 3.60 |
| 44 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 3.59 |
| 45 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS | 3.43 |
| 46 | Breast cancer | Enrichment | AKT1, KRAS, PTEN | 3.36 |
| 47 | Rhabdomyosarcoma | Enrichment | NF1, PTEN | 3.35 |
| 48 | Lung cancer susceptibility 3 | Enrichment | BRAF, KRAS | 3.29 |
| 49 | Arteriovenous malformations of the brain | Enrichment | BRAF, KRAS | 3.02 |
| 50 | Congenital nervous system abnormality | Enrichment | CAMK2B, PTEN, TSC2 | 2.93 |
| 51 | Nervous system disease | Enrichment | CAMK2B, PTEN, TSC2 | 2.93 |
| 52 | Colorectal cancer | Enrichment | AKT1, BRAF, NRAS | 2.92 |
| 53 | Autism spectrum disorder | Enrichment | NF1, PTEN, TSC2 | 2.89 |
| 54 | Proteus syndrome | Enrichment | AKT1 | 2.70 |
| 55 | Oculoectodermal syndrome | Enrichment | KRAS | 2.70 |
| 56 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.70 |
| 57 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.70 |
| 58 | Noonan syndrome 6 | Enrichment | NRAS | 2.70 |
| 59 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.70 |
| 60 | Developmental and epileptic encephalopathy 58 | Enrichment | NTRK2 | 2.70 |
| 61 | Intellectual developmental disorder, autosomal dominant 54 | Enrichment | CAMK2B | 2.70 |
| 62 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.70 |
| 63 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.70 |
| 64 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.70 |
| 65 | Brugada syndrome 3 | Enrichment | CACNA1C | 2.70 |
| 66 | Cowden syndrome 6 | Enrichment | AKT1 | 2.70 |
| 67 | Obesity, hyperphagia, and developmental delay | Enrichment | NTRK2 | 2.70 |
| 68 | Glioma susceptibility 2 | Enrichment | PTEN | 2.70 |
| 69 | Plexiform neurofibroma | Enrichment | NF1 | 2.70 |
| 70 | Neurofibroma | Enrichment | NF1 | 2.70 |
| 71 | Capillary hemangioma | Enrichment | AKT3 | 2.70 |
| 72 | Neurofibromatosis | Enrichment | NF1 | 2.70 |
| 73 | Chromosome 17q11.2 deletion syndrome | Enrichment | NF1 | 2.70 |
| 74 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.70 |
| 75 | Optic nerve glioma | Enrichment | NF1 | 2.70 |
| 76 | Atypical timothy syndrome | Enrichment | CACNA1C | 2.70 |
| 77 | 15q11q13 microduplication syndrome | Enrichment | UBE3A | 2.70 |
| 78 | Timothy syndrome type 2 | Enrichment | CACNA1C | 2.70 |
| 79 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.70 |
| 80 | Timothy syndrome type 1 | Enrichment | CACNA1C | 2.70 |
| 81 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.70 |
| 82 | Cacna1c-related disorders | Enrichment | CACNA1C | 2.70 |
| 83 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.61 |
| 84 | Noonan syndrome 4 | Enrichment | SOS1 | 2.61 |
| 85 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.61 |
| 86 | Noonan syndrome 7 | Enrichment | BRAF | 2.61 |
| 87 | Leopard syndrome 3 | Enrichment | BRAF | 2.61 |
| 88 | Focal segmental glomerulosclerosis 2 | Enrichment | TRPC6 | 2.61 |
| 89 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.61 |
| 90 | Deafness, autosomal recessive 44 | Enrichment | ADCY1 | 2.61 |
| 91 | Spinocerebellar ataxia 41 | Enrichment | TRPC3 | 2.61 |
| 92 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.61 |
| 93 | Lymphangioma | Enrichment | BRAF | 2.61 |
| 94 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | Enrichment | GRIN1 | 2.61 |
| 95 | Phace association | Enrichment | BRAF | 2.61 |
| 96 | Melorheostosis | Enrichment | MAP2K1 | 2.61 |
| 97 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.61 |
| 98 | Developmental and epileptic encephalopathy 101 | Enrichment | GRIN1 | 2.61 |
| 99 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | Enrichment | GRIN1 | 2.61 |
| 100 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.61 |
| 101 | Ganglioglioma | Enrichment | BRAF | 2.61 |
| 102 | Intellectual disability, autosomal dominant 8 | Enrichment | GRIN1 | 2.61 |
| 103 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.61 |
| 104 | Phace syndrome | Enrichment | BRAF | 2.61 |
| 105 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.61 |
| 106 | Classic hairy cell leukemia | Enrichment | BRAF | 2.61 |
| 107 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.59 |
| 108 | Lung cancer | Enrichment | BRAF, KRAS | 2.57 |
| 109 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 2.55 |
| 110 | Cafe-au-lait spots, multiple | Enrichment | NF1 | 2.40 |
| 111 | Timothy syndrome | Enrichment | CACNA1C | 2.40 |
| 112 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.40 |
| 113 | Long qt syndrome 8 | Enrichment | CACNA1C | 2.40 |
| 114 | Cebalid syndrome | Enrichment | MTOR | 2.40 |
| 115 | Chromosome 17q11.2 duplication syndrome, 1.4-mb | Enrichment | NF1 | 2.40 |
| 116 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.40 |
| 117 | Bardet-biedl syndrome 9 | Enrichment | NF1 | 2.40 |
| 118 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.40 |
| 119 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.40 |
| 120 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.40 |
| 121 | Angelman syndrome due to maternal 15q11q13 deletion | Enrichment | UBE3A | 2.40 |
| 122 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.40 |
| 123 | Pleomorphic rhabdomyosarcoma | Enrichment | NF1 | 2.40 |
| 124 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.31 |
| 125 | Costello syndrome | Enrichment | HRAS | 2.31 |
| 126 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.31 |
| 127 | Bilateral generalized polymicrogyria | Enrichment | GRIN1 | 2.31 |
| 128 | Vulto-van silfhout-de vries syndrome | Enrichment | DLG4 | 2.31 |
| 129 | Wooly hair nevus | Enrichment | HRAS | 2.31 |
| 130 | Myeloma, multiple | Enrichment | KRAS, NF1 | 2.26 |
| 131 | Watson syndrome | Enrichment | NF1 | 2.22 |
| 132 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 2.22 |
| 133 | Neurofibromatosis, familial spinal | Enrichment | NF1 | 2.22 |
| 134 | Tuberous sclerosis 2 | Enrichment | TSC2 | 2.22 |
| 135 | Chromosome 17q11.2 deletion syndrome, 1.4-mb | Enrichment | NF1 | 2.22 |
| 136 | Auditory neuropathy and optic atrophy | Enrichment | GRIN2C | 2.22 |
| 137 | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | Enrichment | CACNA1C | 2.22 |
| 138 | Xanthinuria, type ii | Enrichment | TSC2 | 2.22 |
| 139 | Brain cancer | Enrichment | NF1 | 2.22 |
| 140 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 2.22 |
| 141 | Angelman syndrome due to imprinting defect in 15q11-q13 | Enrichment | UBE3A | 2.22 |
| 142 | Ataxia-telangiectasia | Enrichment | BRAF | 2.14 |
| 143 | Heart defects, congenital, and other congenital anomalies | Enrichment | DLG4 | 2.14 |
| 144 | Nuchal bleb, familial | Enrichment | SOS1 | 2.14 |
| 145 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.14 |
| 146 | Intellectual developmental disorder, autosomal dominant 62 | Enrichment | DLG4 | 2.14 |
| 147 | Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures | Enrichment | DLG4 | 2.14 |
| 148 | Dlg4-related synaptopathy | Enrichment | DLG4 | 2.14 |
| 149 | Spermatocytoma | Enrichment | HRAS | 2.14 |
| 150 | Melanoma of soft tissue | Enrichment | CREB1 | 2.14 |
| 151 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.10 |
| 152 | Neurofibromatosis-noonan syndrome | Enrichment | NF1 | 2.10 |
| 153 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3 | 2.10 |
| 154 | Ventricular fibrillation, paroxysmal familial, 1 | Enrichment | CACNA1C | 2.10 |
| 155 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.10 |
| 156 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 2.10 |
| 157 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.10 |
| 158 | Embryonal rhabdomyosarcoma | Enrichment | NF1 | 2.10 |
| 159 | Glioma | Enrichment | PTEN | 2.10 |
| 160 | Middle aortic syndrome | Enrichment | NF1 | 2.10 |
| 161 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DLG4 | 2.01 |
| 162 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 2.01 |
| 163 | Craniopharyngioma | Enrichment | BRAF | 2.01 |
| 164 | Noonan syndrome with multiple lentigines | Enrichment | BRAF | 2.01 |
| 165 | Newborn respiratory distress syndrome | Enrichment | BRAF | 2.01 |
| 166 | Epidermolytic nevus | Enrichment | HRAS | 2.01 |
| 167 | Gingival fibromatosis | Enrichment | SOS1 | 2.01 |
| 168 | Rhabdomyosarcoma 2 | Enrichment | NF1 | 2.00 |
| 169 | Macrocephaly/autism syndrome | Enrichment | PTEN | 2.00 |
| 170 | Heart conduction disease | Enrichment | CACNA1C | 2.00 |
| 171 | Hemangioma | Enrichment | PTEN | 2.00 |
| 172 | Acute megakaryocytic leukemia | Enrichment | PTEN | 2.00 |
| 173 | Angelman syndrome | Enrichment | UBE3A | 1.92 |
| 174 | Cowden syndrome 1 | Enrichment | PTEN | 1.92 |
| 175 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF | 1.92 |
| 176 | Keratoconus | Enrichment | TSC1 | 1.92 |
| 177 | Lung squamous cell carcinoma | Enrichment | KRAS | 1.92 |
| 178 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.86 |
| 179 | Squamous cell carcinoma, head and neck | Enrichment | PTEN | 1.86 |
| 180 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.86 |
| 181 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.86 |
| 182 | Megacolon | Enrichment | AKT3 | 1.86 |
| 183 | Overgrowth syndrome | Enrichment | MTOR | 1.86 |
| 184 | Wilms tumor 5 | Enrichment | BRAF | 1.84 |
| 185 | Ewing sarcoma | Enrichment | NF1 | 1.80 |
| 186 | Neurofibromatosis, type i | Enrichment | NF1 | 1.75 |
| 187 | Leukemia, acute lymphoblastic 3 | Enrichment | NF1 | 1.75 |
| 188 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | CACNA1C | 1.75 |
| 189 | Congenital central hypoventilation syndrome | Enrichment | BDNF | 1.75 |
| 190 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.71 |
| 191 | Polymicrogyria | Enrichment | AKT3 | 1.70 |
| 192 | Melanoma | Enrichment | PTEN | 1.70 |
| 193 | Meningioma, familial | Enrichment | PTEN | 1.66 |
| 194 | Uterine corpus cancer | Enrichment | PTEN | 1.66 |
| 195 | Specific learning disability | Enrichment | MAPK1 | 1.66 |
| 196 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.66 |
| 197 | Primary hyperaldosteronism | Enrichment | BRAF | 1.66 |
| 198 | Ventricular septal defect | Enrichment | BRAF | 1.66 |
| 199 | Cardiac conduction defect | Enrichment | CACNA1C | 1.63 |
| 200 | Microcephaly | Enrichment | CAMK2B, MAPK1 | 1.61 |
| 201 | Protein-deficiency anemia | Enrichment | NRAS | 1.59 |
| 202 | Pheochromocytoma | Enrichment | NF1 | 1.56 |
| 203 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.53 |
| 204 | Lynch syndrome | Enrichment | KRAS | 1.53 |
| 205 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 1.53 |
| 206 | Kidney disease | Enrichment | TSC1 | 1.53 |
| 207 | Rare genetic intellectual disability | Enrichment | MTOR | 1.53 |
| 208 | Aortic valve disease 1 | Enrichment | SOS1 | 1.51 |
| 209 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.47 |
| 210 | Heart, malformation of | Enrichment | MAPK1 | 1.45 |
| 211 | Wilms tumor 1 | Enrichment | BRAF | 1.44 |
| 212 | Diffuse large b-cell lymphoma | Enrichment | PTEN | 1.43 |
| 213 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.39 |
| 214 | Dandy-walker syndrome | Enrichment | BRAF | 1.39 |
| 215 | Endometrial cancer | Enrichment | PTEN | 1.39 |
| 216 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | NF1 | 1.39 |
| 217 | Skin disease | Enrichment | NF1 | 1.37 |
| 218 | Early infantile developmental and epileptic encephalopathy | Enrichment | GRIN1 | 1.37 |
| 219 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | CACNA1C | 1.33 |
| 220 | Focal segmental glomerulosclerosis | Enrichment | TRPC6 | 1.32 |
| 221 | Pancreatic cancer | Enrichment | KRAS | 1.31 |
| 222 | Brugada syndrome | Enrichment | CACNA1C | 1.30 |
| 223 | Prostate cancer | Enrichment | PTEN | 1.25 |
| 224 | Long qt syndrome 1 | Enrichment | CACNA1C | 1.24 |
| 225 | Developmental and epileptic encephalopathy 1 | Enrichment | GRIN1 | 1.23 |
| 226 | Long qt syndrome | Enrichment | CACNA1C | 1.22 |
| 227 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.21 |
| 228 | Dystonia | Enrichment | CAMK2B | 1.17 |
| 229 | Cerebral palsy | Enrichment | CACNA1C | 1.13 |
| 230 | Genetic steroid-resistant nephrotic syndrome | Enrichment | TRPC6 | 1.10 |
| 231 | Body mass index quantitative trait locus 11 | Enrichment | BDNF | 1.02 |
| 232 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2B | 1.02 |
| 233 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN1 | 1.02 |
| 234 | Centralopathic epilepsy | Enrichment | GRIN1 | 1.00 |
| 235 | Nephrotic syndrome | Enrichment | TRPC6 | 1.00 |
| 236 | Undetermined early-onset epileptic encephalopathy | Enrichment | NTRK2 | 0.98 |
| 237 | Autosomal recessive non-syndromic intellectual disability | Enrichment | GRIN1 | 0.88 |
| 238 | Dilated cardiomyopathy | Enrichment | BRAF | 0.75 |
| 239 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | ADCY1 | 0.71 |
| 240 | Complex neurodevelopmental disorder | Enrichment | CACNA1C | 0.66 |