| 1 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, RAF1, SHOC2, SPRED2 | 16.00 |
| 2 | Rasopathy | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, RAF1, SHOC2 | 16.00 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 10.88 |
| 4 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 9.24 |
| 5 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 9.24 |
| 6 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, KRAS, MAP2K1, NRAS | 8.94 |
| 7 | Pilomyxoid astrocytoma | Enrichment | BRAF, KIAA1549, KRAS, RAF1 | 7.72 |
| 8 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, NRAS, RAF1 | 7.43 |
| 9 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 6.94 |
| 10 | Dysfibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 6.94 |
| 11 | Familial dysfibrinogenemia | Enrichment | FGA, FGB, FGG | 6.94 |
| 12 | Familial hypofibrinogenemia | Enrichment | FGA, FGB, FGG | 6.94 |
| 13 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS, KRAS, NRAS, TRIM24 | 6.56 |
| 14 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 6.34 |
| 15 | Afibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 6.34 |
| 16 | Thrombocytopenia | Enrichment | FGG, ITGA2B, ITGB3, SRC, VWF | 5.44 |
| 17 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 5.40 |
| 18 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS | 5.40 |
| 19 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1 | 5.40 |
| 20 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS | 5.40 |
| 21 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 5.20 |
| 22 | Long qt syndrome 1 | Enrichment | AKAP9, CALM1, CALM2, CALM3 | 4.87 |
| 23 | Long qt syndrome | Enrichment | AKAP9, CALM1, CALM2, LMNA | 4.81 |
| 24 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.62 |
| 25 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.62 |
| 26 | Noonan syndrome-like disorder with loose anagen hair | Enrichment | PPP1CB, SHOC2 | 4.42 |
| 27 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NF1, NRAS | 4.32 |
| 28 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGA2B, ITGB3 | 4.14 |
| 29 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.14 |
| 30 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.84 |
| 31 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 3.84 |
| 32 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2, NF1 | 3.65 |
| 33 | Pilocytic astrocytoma | Enrichment | KRAS, NF1 | 3.65 |
| 34 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2B, ITGB3 | 3.45 |
| 35 | Myelofibrosis | Enrichment | JAK2, SRC | 3.30 |
| 36 | Glanzmann thrombasthenia 1 | Enrichment | ITGA2B, ITGB3 | 3.30 |
| 37 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 3.30 |
| 38 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.30 |
| 39 | Gallbladder cancer | Enrichment | BRAF, KRAS | 3.30 |
| 40 | Dilated cardiomyopathy | Enrichment | BRAF, LMNA, RAF1, VCL | 3.19 |
| 41 | Bladder cancer | Enrichment | HRAS, KRAS, NF1 | 3.13 |
| 42 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 3.07 |
| 43 | Leukemia, acute myeloid | Enrichment | JAK2, KRAS, NRAS | 3.00 |
| 44 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 2.98 |
| 45 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGA2B, ITGB3 | 2.98 |
| 46 | Neurofibromatosis, type i | Enrichment | NF1, SPRED1 | 2.88 |
| 47 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2, NF1 | 2.88 |
| 48 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS | 2.81 |
| 49 | Lung cancer susceptibility 3 | Enrichment | BRAF, KRAS | 2.68 |
| 50 | Familial isolated dilated cardiomyopathy | Enrichment | LMNA, RAF1, VCL | 2.65 |
| 51 | Microcephaly | Enrichment | ACTB, ACTG1, CAMK2B, MAPK1 | 2.50 |
| 52 | Arteriovenous malformations of the brain | Enrichment | BRAF, KRAS | 2.41 |
| 53 | Rhabdomyosarcoma | Enrichment | HRAS, NF1 | 2.37 |
| 54 | Dandy-walker syndrome | Enrichment | BRAF, PPP1CB | 2.31 |
| 55 | Von willebrand disease, type 1 | Enrichment | VWF | 2.31 |
| 56 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.31 |
| 57 | Oculoectodermal syndrome | Enrichment | KRAS | 2.31 |
| 58 | Pallister-killian syndrome | Enrichment | ARAF | 2.31 |
| 59 | Noonan syndrome 5 | Enrichment | RAF1 | 2.31 |
| 60 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.31 |
| 61 | Noonan syndrome 7 | Enrichment | BRAF | 2.31 |
| 62 | Leopard syndrome 3 | Enrichment | BRAF | 2.31 |
| 63 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.31 |
| 64 | Von willebrand disease, type 2 | Enrichment | VWF | 2.31 |
| 65 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.31 |
| 66 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.31 |
| 67 | Noonan syndrome 6 | Enrichment | NRAS | 2.31 |
| 68 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.31 |
| 69 | Intellectual developmental disorder, x-linked, syndromic, houge type | Enrichment | CNKSR2 | 2.31 |
| 70 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.31 |
| 71 | Intellectual developmental disorder, autosomal dominant 54 | Enrichment | CAMK2B | 2.31 |
| 72 | Von willebrand disease, type 3 | Enrichment | VWF | 2.31 |
| 73 | Fetomaternal alloimmune thrombocytopenia 2 | Enrichment | ITGA2B | 2.31 |
| 74 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.31 |
| 75 | Cataract 38 | Enrichment | AGK | 2.31 |
| 76 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.31 |
| 77 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.31 |
| 78 | Lymphangioma | Enrichment | BRAF | 2.31 |
| 79 | Long qt syndrome 11 | Enrichment | AKAP9 | 2.31 |
| 80 | Phace association | Enrichment | BRAF | 2.31 |
| 81 | Becker nevus syndrome | Enrichment | ACTB | 2.31 |
| 82 | Melorheostosis | Enrichment | MAP2K1 | 2.31 |
| 83 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.31 |
| 84 | Leopard syndrome 2 | Enrichment | RAF1 | 2.31 |
| 85 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.31 |
| 86 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.31 |
| 87 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 2.31 |
| 88 | Long qt syndrome 16 | Enrichment | CALM3 | 2.31 |
| 89 | Visual impairment and progressive phthisis bulbi | Enrichment | MARK3 | 2.31 |
| 90 | Thrombocytopenia 6 | Enrichment | SRC | 2.31 |
| 91 | Atypical werner syndrome | Enrichment | LMNA | 2.31 |
| 92 | Retinitis pigmentosa 86 | Enrichment | KIAA1549 | 2.31 |
| 93 | Von willebrand's disease | Enrichment | VWF | 2.31 |
| 94 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.31 |
| 95 | Developmental and epileptic encephalopathy 68 | Enrichment | TRAK1 | 2.31 |
| 96 | Congenital myopathy 9b, proximal, with minicore lesions | Enrichment | FXR1 | 2.31 |
| 97 | Congenital myopathy 9a | Enrichment | FXR1 | 2.31 |
| 98 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.31 |
| 99 | Ceroid lipofuscinosis, neuronal, 15 | Enrichment | CLCN6 | 2.31 |
| 100 | Trigonitis | Enrichment | RAF1 | 2.31 |
| 101 | Intellectual developmental disorder, autosomal dominant 59 | Enrichment | CAMK2G | 2.31 |
| 102 | Hermansky-pudlak syndrome due to ap3b1 deficiency | Enrichment | AP3B1 | 2.31 |
| 103 | Long qt syndrome 15 | Enrichment | CALM2 | 2.31 |
| 104 | Baraitser-winter syndrome | Enrichment | ACTB | 2.31 |
| 105 | Mandibuloacral dysplasia | Enrichment | LMNA | 2.31 |
| 106 | Atrioventricular block | Enrichment | LMNA | 2.31 |
| 107 | Congenital fibrinogen deficiency | Enrichment | FGG | 2.31 |
| 108 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.31 |
| 109 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.31 |
| 110 | Capillary leak syndrome | Enrichment | TLN1 | 2.31 |
| 111 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.31 |
| 112 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.31 |
| 113 | Ganglioglioma | Enrichment | BRAF | 2.31 |
| 114 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.31 |
| 115 | Lmna-related cardiocutaneous progeria syndrome | Enrichment | LMNA | 2.31 |
| 116 | Phace syndrome | Enrichment | BRAF | 2.31 |
| 117 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.31 |
| 118 | Classic hairy cell leukemia | Enrichment | BRAF | 2.31 |
| 119 | Autosomal semi-dominant severe lipodystrophic laminopathy | Enrichment | LMNA | 2.31 |
| 120 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.31 |
| 121 | Autosomal recessive axonal hereditary motor and sensory neuropathy | Enrichment | LMNA | 2.31 |
| 122 | Laminopathy | Enrichment | LMNA | 2.31 |
| 123 | Myeloma, multiple | Enrichment | BRAF, KRAS, NF1 | 2.30 |
| 124 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | LMNA, RAF1 | 2.21 |
| 125 | Legius syndrome | Enrichment | SPRED1 | 2.21 |
| 126 | Noonan syndrome 11 | Enrichment | MRAS | 2.21 |
| 127 | Noonan syndrome 14 | Enrichment | SPRED2 | 2.21 |
| 128 | Noonan syndrome-like disorder with loose anagen hair 1 | Enrichment | SHOC2 | 2.21 |
| 129 | Hypogonadotropic hypogonadism 19 with or without anosmia | Enrichment | DUSP6 | 2.21 |
| 130 | Noonan syndrome-like disorder with loose anagen hair 2 | Enrichment | PPP1CB | 2.21 |
| 131 | Plexiform neurofibroma | Enrichment | NF1 | 2.21 |
| 132 | Neurofibroma | Enrichment | NF1 | 2.21 |
| 133 | Neurofibromatosis | Enrichment | NF1 | 2.21 |
| 134 | Chromosome 17q11.2 deletion syndrome | Enrichment | NF1 | 2.21 |
| 135 | Optic nerve glioma | Enrichment | NF1 | 2.21 |
| 136 | Brugada syndrome | Enrichment | AKAP9, LMNA | 2.14 |
| 137 | Skin disease | Enrichment | CLCN6, NF1 | 2.09 |
| 138 | Colorectal cancer | Enrichment | BRAF, NRAS, SRC | 2.04 |
| 139 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 2.01 |
| 140 | Costello syndrome | Enrichment | HRAS | 2.01 |
| 141 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 2.01 |
| 142 | Mandibuloacral dysplasia with type a lipodystrophy | Enrichment | LMNA | 2.01 |
| 143 | Pulmonic stenosis | Enrichment | BRAF | 2.01 |
| 144 | Heart-hand syndrome, slovenian type | Enrichment | LMNA | 2.01 |
| 145 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.01 |
| 146 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.01 |
| 147 | Charcot-marie-tooth disease, axonal, type 2b1 | Enrichment | LMNA | 2.01 |
| 148 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.01 |
| 149 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.01 |
| 150 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism | Enrichment | LMNA | 2.01 |
| 151 | Fatty liver disease 1 | Enrichment | ATG7 | 2.01 |
| 152 | Thrombocythemia 3 | Enrichment | JAK2 | 2.01 |
| 153 | Long qt syndrome 14 | Enrichment | CALM1 | 2.01 |
| 154 | Cardiomyopathy, dilated, 1d | Enrichment | LMNA | 2.01 |
| 155 | Restrictive dermopathy 2 | Enrichment | LMNA | 2.01 |
| 156 | Emery-dreifuss muscular dystrophy 3, autosomal recessive | Enrichment | LMNA | 2.01 |
| 157 | Deafness, autosomal recessive 109 | Enrichment | ESRP1 | 2.01 |
| 158 | Hermansky-pudlak syndrome 2 | Enrichment | AP3B1 | 2.01 |
| 159 | Lipodystrophy, familial partial, type 1 | Enrichment | LMNA | 2.01 |
| 160 | Spinocerebellar ataxia, autosomal recessive 31 | Enrichment | ATG7 | 2.01 |
| 161 | Neurogenic bladder | Enrichment | CLCN6 | 2.01 |
| 162 | Respiratory system disease | Enrichment | CLCN6 | 2.01 |
| 163 | Angiocentric glioma | Enrichment | QKI | 2.01 |
| 164 | Polycythemia | Enrichment | JAK2 | 2.01 |
| 165 | Familial partial lipodystrophy | Enrichment | LMNA | 2.01 |
| 166 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.01 |
| 167 | Charcot-marie-tooth disease type 2b1 | Enrichment | LMNA | 2.01 |
| 168 | Non-syndromic syndactyly | Enrichment | AGGF1 | 2.01 |
| 169 | Tafro syndrome | Enrichment | MAP2K2 | 2.01 |
| 170 | Wooly hair nevus | Enrichment | HRAS | 2.01 |
| 171 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 1.99 |
| 172 | Lung cancer | Enrichment | BRAF, KRAS | 1.97 |
| 173 | Cafe-au-lait spots, multiple | Enrichment | NF1 | 1.91 |
| 174 | Chromosome 17q11.2 duplication syndrome, 1.4-mb | Enrichment | NF1 | 1.91 |
| 175 | Bardet-biedl syndrome 9 | Enrichment | NF1 | 1.91 |
| 176 | Pleomorphic rhabdomyosarcoma | Enrichment | NF1 | 1.91 |
| 177 | Left ventricular noncompaction | Enrichment | LMNA, RAF1 | 1.89 |
| 178 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.83 |
| 179 | Myotonia congenita, autosomal dominant | Enrichment | FAM131B | 1.83 |
| 180 | Ataxia-telangiectasia | Enrichment | BRAF | 1.83 |
| 181 | Myotonia congenita, autosomal recessive | Enrichment | FAM131B | 1.83 |
| 182 | Sengers syndrome | Enrichment | AGK | 1.83 |
| 183 | Polycythemia vera | Enrichment | JAK2 | 1.83 |
| 184 | Periventricular nodular heterotopia 1 | Enrichment | VWF | 1.83 |
| 185 | Restrictive dermopathy 1 | Enrichment | LMNA | 1.83 |
| 186 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.83 |
| 187 | Lipodystrophy, familial partial, type 2 | Enrichment | LMNA | 1.83 |
| 188 | Muscular dystrophy, congenital, lmna-related | Enrichment | LMNA | 1.83 |
| 189 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.83 |
| 190 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2 | 1.83 |
| 191 | Restrictive dermopathy | Enrichment | LMNA | 1.83 |
| 192 | Spermatocytoma | Enrichment | HRAS | 1.83 |
| 193 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.83 |
| 194 | Watson syndrome | Enrichment | NF1 | 1.73 |
| 195 | Neurofibromatosis, familial spinal | Enrichment | NF1 | 1.73 |
| 196 | Chromosome 17q11.2 deletion syndrome, 1.4-mb | Enrichment | NF1 | 1.73 |
| 197 | Polycystic kidney disease 4 | Enrichment | SHOC2 | 1.73 |
| 198 | Brain cancer | Enrichment | NF1 | 1.73 |
| 199 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.71 |
| 200 | Hutchinson-gilford progeria syndrome | Enrichment | LMNA | 1.71 |
| 201 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.71 |
| 202 | Trichohepatoenteric syndrome 1 | Enrichment | AGK | 1.71 |
| 203 | Emery-dreifuss muscular dystrophy 1, x-linked | Enrichment | LMNA | 1.71 |
| 204 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.71 |
| 205 | Budd-chiari syndrome | Enrichment | JAK2 | 1.71 |
| 206 | Microtia-anotia | Enrichment | LMNA | 1.71 |
| 207 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.71 |
| 208 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.71 |
| 209 | Emery-dreifuss muscular dystrophy | Enrichment | LMNA | 1.71 |
| 210 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.71 |
| 211 | Craniopharyngioma | Enrichment | BRAF | 1.71 |
| 212 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.71 |
| 213 | Epidermolytic nevus | Enrichment | HRAS | 1.71 |
| 214 | Sick sinus syndrome | Enrichment | LMNA | 1.71 |
| 215 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.71 |
| 216 | Amyloidosis, hereditary systemic 2 | Enrichment | FGA | 1.61 |
| 217 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.61 |
| 218 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | LMNA | 1.61 |
| 219 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.61 |
| 220 | Histiocytoid hemangioma | Enrichment | LMNA | 1.61 |
| 221 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.61 |
| 222 | Embryonal rhabdomyosarcoma | Enrichment | NF1 | 1.61 |
| 223 | Middle aortic syndrome | Enrichment | NF1 | 1.61 |
| 224 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A, CAMK2B | 1.60 |
| 225 | Gastric cancer | Enrichment | KRAS, NF1 | 1.54 |
| 226 | Klippel-trenaunay-weber syndrome | Enrichment | AGGF1 | 1.53 |
| 227 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | Enrichment | LMNA | 1.53 |
| 228 | Wilms tumor 5 | Enrichment | BRAF | 1.53 |
| 229 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.53 |
| 230 | Breast adenocarcinoma | Enrichment | KRAS | 1.53 |
| 231 | Lung squamous cell carcinoma | Enrichment | KRAS | 1.53 |
| 232 | Polycystic kidney disease 3 with or without polycystic liver disease | Enrichment | SHOC2 | 1.51 |
| 233 | Rhabdomyosarcoma 2 | Enrichment | NF1 | 1.51 |
| 234 | Undetermined early-onset epileptic encephalopathy | Enrichment | CNKSR2, TRAK1 | 1.51 |
| 235 | Bethlem myopathy 1a | Enrichment | LMNA | 1.47 |
| 236 | Thrombophilia due to thrombin defect | Enrichment | FGA | 1.47 |
| 237 | Essential thrombocythemia | Enrichment | JAK2 | 1.47 |
| 238 | Spastic paraplegia 4, autosomal dominant | Enrichment | FGG | 1.41 |
| 239 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.41 |
| 240 | Congenital muscular dystrophy | Enrichment | LMNA | 1.41 |
| 241 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.41 |
| 242 | Myocarditis | Enrichment | LMNA | 1.41 |
| 243 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.36 |
| 244 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | LMNA | 1.36 |
| 245 | Primary hyperaldosteronism | Enrichment | BRAF | 1.36 |
| 246 | Ventricular septal defect | Enrichment | BRAF | 1.36 |
| 247 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, NF1 | 1.34 |
| 248 | Cat eye syndrome | Enrichment | ACTG1 | 1.32 |
| 249 | Melanoma | Enrichment | BRAF | 1.32 |
| 250 | Polycystic kidney disease 4 with or without polycystic liver disease | Enrichment | SHOC2 | 1.31 |
| 251 | Ewing sarcoma | Enrichment | NF1 | 1.31 |
| 252 | Movement disease | Enrichment | CLCN6 | 1.28 |
| 253 | Specific learning disability | Enrichment | MAPK1 | 1.28 |
| 254 | Cardiac conduction defect | Enrichment | LMNA | 1.24 |
| 255 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | LMNA | 1.24 |
| 256 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | LMNA | 1.24 |
| 257 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | LMNA | 1.24 |
| 258 | Protein-deficiency anemia | Enrichment | NRAS | 1.21 |
| 259 | Pectus excavatum | Enrichment | SHOC2 | 1.18 |
| 260 | Osteoporosis | Enrichment | SRC | 1.17 |
| 261 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | LMNA | 1.17 |
| 262 | Wilms tumor 1 | Enrichment | BRAF | 1.14 |
| 263 | Hermansky-pudlak syndrome | Enrichment | AP3B1 | 1.14 |
| 264 | Lynch syndrome | Enrichment | KRAS | 1.14 |
| 265 | Hermansky-pudlak syndrome 1 | Enrichment | AP3B1 | 1.12 |
| 266 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | LMNA | 1.12 |
| 267 | Breast cancer | Enrichment | KRAS, PHB1 | 1.10 |
| 268 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.09 |
| 269 | Sudden infant death syndrome | Enrichment | CALM2 | 1.09 |
| 270 | Cardiomyopathy, dilated, 1e | Enrichment | LMNA | 1.09 |
| 271 | Cataract 44 | Enrichment | AGK | 1.09 |
| 272 | Pheochromocytoma | Enrichment | NF1 | 1.08 |
| 273 | Heart, malformation of | Enrichment | MAPK1 | 1.07 |
| 274 | Neuromuscular disease | Enrichment | LMNA | 1.07 |
| 275 | Ovarian cancer | Enrichment | KRAS, TRIM24 | 1.05 |
| 276 | Male infertility with spermatogenesis disorder | Enrichment | SPRED1 | 1.05 |
| 277 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | LMNA | 1.05 |
| 278 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 1.05 |
| 279 | Cardiomyopathy, dilated, 1a | Enrichment | LMNA | 1.01 |
| 280 | Lissencephaly | Enrichment | ACTG1 | 1.01 |
| 281 | Myocardial infarction | Enrichment | ITGB3 | 0.99 |
| 282 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | DUSP6 | 0.98 |
| 283 | Autoinflammatory disease | Enrichment | AP3B1 | 0.95 |
| 284 | Muscular dystrophy | Enrichment | LMNA | 0.95 |
| 285 | Pancreatic cancer | Enrichment | KRAS | 0.93 |
| 286 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.92 |
| 287 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | NF1 | 0.91 |
| 288 | Kallmann syndrome | Enrichment | DUSP6 | 0.88 |
| 289 | Autism spectrum disorder | Enrichment | MAP2K1, NF1 | 0.83 |
| 290 | Peripheral nervous system disease | Enrichment | LMNA | 0.83 |
| 291 | Neuropathy | Enrichment | LMNA | 0.83 |
| 292 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.82 |
| 293 | Cakut | Enrichment | ACTG1 | 0.81 |
| 294 | Dystonia | Enrichment | CAMK2B | 0.80 |
| 295 | Non-syndromic x-linked intellectual disability | Enrichment | CNKSR2 | 0.79 |
| 296 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.79 |
| 297 | Charcot-marie-tooth disease | Enrichment | LMNA | 0.74 |
| 298 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.73 |
| 299 | Nephrotic syndrome | Enrichment | FN1 | 0.72 |
| 300 | Hereditary breast carcinoma | Enrichment | KRAS | 0.71 |
| 301 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.64 |
| 302 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.60 |
| 303 | Autism | Enrichment | CAMK2G | 0.52 |
| 304 | Rare genetic deafness | Enrichment | ACTG1 | 0.49 |
| 305 | Mitochondrial disease | Enrichment | AGK | 0.45 |
| 306 | Congenital nervous system abnormality | Enrichment | CAMK2B | 0.39 |
| 307 | Nervous system disease | Enrichment | CAMK2B | 0.39 |
| 308 | Inherited cancer-predisposing syndrome | Enrichment | NF1 | 0.25 |
| 309 | Retinitis pigmentosa | Enrichment | KIAA1549 | 0.19 |
| 310 | Hereditary retinal dystrophy | Enrichment | KIAA1549 | 0.12 |
| 311 | Fundus dystrophy | Enrichment | KIAA1549 | 0.12 |