| 1 | Rasopathy | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS2 | 16.00 |
| 2 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1 | 10.86 |
| 3 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS2 | 10.60 |
| 4 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 9.08 |
| 5 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 9.08 |
| 6 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, KRAS, MAP2K1, NRAS | 8.72 |
| 7 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1, SOS1 | 7.55 |
| 8 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, NRAS, RAF1 | 7.25 |
| 9 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 6.81 |
| 10 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS, KRAS, NRAS, NTRK1 | 6.35 |
| 11 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 6.21 |
| 12 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, TP53 | 5.51 |
| 13 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 5.27 |
| 14 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS | 5.27 |
| 15 | Gallbladder cancer | Enrichment | BRAF, KRAS, TP53 | 5.27 |
| 16 | Pilomyxoid astrocytoma | Enrichment | BRAF, KRAS, RAF1 | 5.27 |
| 17 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS | 5.27 |
| 18 | Colorectal cancer | Enrichment | AKT1, BAX, BRAF, NRAS, PIK3R1, TP53 | 5.12 |
| 19 | Myeloma, multiple | Enrichment | BRAF, CREBBP, KRAS, PIK3R2, TP53 | 4.89 |
| 20 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 4.53 |
| 21 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.53 |
| 22 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, RRAS | 4.48 |
| 23 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS, TP53 | 4.48 |
| 24 | Lung cancer susceptibility 3 | Enrichment | BRAF, KRAS, TP53 | 4.26 |
| 25 | Tethered spinal cord syndrome | Enrichment | BRAF, CREBBP | 4.06 |
| 26 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.06 |
| 27 | Diffuse large b-cell lymphoma | Enrichment | BRAF, CREBBP, TP53 | 3.85 |
| 28 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF, TP53 | 3.76 |
| 29 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3R2 | 3.76 |
| 30 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.76 |
| 31 | Lung sarcomatoid carcinoma | Enrichment | KRAS, TP53 | 3.76 |
| 32 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.76 |
| 33 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 3.76 |
| 34 | Ovarian cancer | Enrichment | AKT1, KRAS, NTRK1, RRAS2, TP53 | 3.65 |
| 35 | Bladder cancer | Enrichment | HRAS, KRAS, TP53 | 3.29 |
| 36 | Incontinentia pigmenti | Enrichment | IKBKG | 3.23 |
| 37 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 3.23 |
| 38 | Noonan syndrome 5 | Enrichment | RAF1 | 3.23 |
| 39 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 3.23 |
| 40 | Fetal encasement syndrome | Enrichment | CHUK | 3.23 |
| 41 | Immunodeficiency 15b | Enrichment | IKBKB | 3.23 |
| 42 | Noonan syndrome 13 | Enrichment | MAPK1 | 3.23 |
| 43 | Immunodeficiency 15a | Enrichment | IKBKB | 3.23 |
| 44 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 3.23 |
| 45 | Leopard syndrome 2 | Enrichment | RAF1 | 3.23 |
| 46 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 3.23 |
| 47 | Trigonitis | Enrichment | RAF1 | 3.23 |
| 48 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 3.23 |
| 49 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 3.22 |
| 50 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.22 |
| 51 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NGF, NTRK1 | 3.22 |
| 52 | Breast cancer | Enrichment | AKT1, JUN, KRAS, TP53 | 3.13 |
| 53 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF, TP53 | 3.09 |
| 54 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 2.99 |
| 55 | Primary hyperaldosteronism | Enrichment | BRAF, TP53 | 2.99 |
| 56 | Immunodeficiency 33 | Enrichment | IKBKG | 2.93 |
| 57 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.93 |
| 58 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG | 2.93 |
| 59 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.93 |
| 60 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.93 |
| 61 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 2.89 |
| 62 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS, TP53 | 2.88 |
| 63 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, TP53 | 2.76 |
| 64 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.63 |
| 65 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | TRAF6 | 2.53 |
| 66 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 2.53 |
| 67 | Rhabdomyosarcoma | Enrichment | HRAS, TP53 | 2.47 |
| 68 | Common variable immunodeficiency | Enrichment | NFKB1 | 2.38 |
| 69 | Arteriovenous malformations of the brain | Enrichment | BRAF, KRAS | 2.33 |
| 70 | Coronary heart disease 5 | Enrichment | IKBKG | 2.28 |
| 71 | Proteus syndrome | Enrichment | AKT1 | 2.26 |
| 72 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.26 |
| 73 | Oculoectodermal syndrome | Enrichment | KRAS | 2.26 |
| 74 | Pallister-killian syndrome | Enrichment | ARAF | 2.26 |
| 75 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.26 |
| 76 | Noonan syndrome 4 | Enrichment | SOS1 | 2.26 |
| 77 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 2.26 |
| 78 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.26 |
| 79 | Noonan syndrome 7 | Enrichment | BRAF | 2.26 |
| 80 | Leopard syndrome 3 | Enrichment | BRAF | 2.26 |
| 81 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.26 |
| 82 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.26 |
| 83 | Noonan syndrome 9 | Enrichment | SOS2 | 2.26 |
| 84 | Noonan syndrome 6 | Enrichment | NRAS | 2.26 |
| 85 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.26 |
| 86 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.26 |
| 87 | Noonan syndrome 11 | Enrichment | MRAS | 2.26 |
| 88 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 2.26 |
| 89 | Short syndrome | Enrichment | PIK3R1 | 2.26 |
| 90 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.26 |
| 91 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.26 |
| 92 | Papilloma of choroid plexus | Enrichment | TP53 | 2.26 |
| 93 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.26 |
| 94 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 2.26 |
| 95 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.26 |
| 96 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.26 |
| 97 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.26 |
| 98 | Lymphangioma | Enrichment | BRAF | 2.26 |
| 99 | Thrombocytopenia 4 | Enrichment | CYCS | 2.26 |
| 100 | Phace association | Enrichment | BRAF | 2.26 |
| 101 | Melorheostosis | Enrichment | MAP2K1 | 2.26 |
| 102 | Long qt syndrome 12 | Enrichment | SNTA1 | 2.26 |
| 103 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.26 |
| 104 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.26 |
| 105 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.26 |
| 106 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 2.26 |
| 107 | Cowden syndrome 6 | Enrichment | AKT1 | 2.26 |
| 108 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.26 |
| 109 | Ductal carcinoma in situ | Enrichment | TP53 | 2.26 |
| 110 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.26 |
| 111 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.26 |
| 112 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.26 |
| 113 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.26 |
| 114 | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | Enrichment | TRIO | 2.26 |
| 115 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.26 |
| 116 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 2.26 |
| 117 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.26 |
| 118 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.26 |
| 119 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.26 |
| 120 | Capillary hemangioma | Enrichment | AKT3 | 2.26 |
| 121 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.26 |
| 122 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.26 |
| 123 | Cerebral cavernous malformations 5 | Enrichment | MAP3K3 | 2.26 |
| 124 | Choroid plexus cancer | Enrichment | TP53 | 2.26 |
| 125 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 2.26 |
| 126 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 2.26 |
| 127 | Nocarh syndrome | Enrichment | CDC42 | 2.26 |
| 128 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.26 |
| 129 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.26 |
| 130 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.26 |
| 131 | Ganglioglioma | Enrichment | BRAF | 2.26 |
| 132 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.26 |
| 133 | Phace syndrome | Enrichment | BRAF | 2.26 |
| 134 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.26 |
| 135 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.26 |
| 136 | Classic hairy cell leukemia | Enrichment | BRAF | 2.26 |
| 137 | Verrucous hemangioma | Enrichment | MAP3K3 | 2.26 |
| 138 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 2.26 |
| 139 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.26 |
| 140 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.26 |
| 141 | Acid sphingomyelinase deficiency | Enrichment | SMPD1 | 2.24 |
| 142 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 2.23 |
| 143 | Specific learning disability | Enrichment | MAPK1 | 2.19 |
| 144 | Pancreatic cancer | Enrichment | KRAS, TP53 | 2.09 |
| 145 | Heart, malformation of | Enrichment | MAPK1 | 1.98 |
| 146 | Burkitt lymphoma | Enrichment | MYC | 1.96 |
| 147 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.96 |
| 148 | Scoliosis, isolated 1 | Enrichment | MAPK7 | 1.96 |
| 149 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.96 |
| 150 | Costello syndrome | Enrichment | HRAS | 1.96 |
| 151 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 1.96 |
| 152 | Thumb deformity | Enrichment | CREBBP | 1.96 |
| 153 | Cervical cancer | Enrichment | TP53 | 1.96 |
| 154 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 1.96 |
| 155 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.96 |
| 156 | Deafness, autosomal recessive 28 | Enrichment | TRIO | 1.96 |
| 157 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.96 |
| 158 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.96 |
| 159 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 1.96 |
| 160 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.96 |
| 161 | Noonan syndrome 12 | Enrichment | RRAS2 | 1.96 |
| 162 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 1.96 |
| 163 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.96 |
| 164 | Congenital fibrosarcoma | Enrichment | TP53 | 1.96 |
| 165 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.96 |
| 166 | Sarcoma | Enrichment | TP53 | 1.96 |
| 167 | Cervix carcinoma | Enrichment | TP53 | 1.96 |
| 168 | Immune system disease | Enrichment | CDC42 | 1.96 |
| 169 | Hodgkin's lymphoma | Enrichment | TP53 | 1.96 |
| 170 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.96 |
| 171 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.96 |
| 172 | Tafro syndrome | Enrichment | MAP2K2 | 1.96 |
| 173 | Wooly hair nevus | Enrichment | HRAS | 1.96 |
| 174 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 1.91 |
| 175 | Lung cancer | Enrichment | BRAF, KRAS | 1.88 |
| 176 | Malaria | Enrichment | IKBKG | 1.87 |
| 177 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.85 |
| 178 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1 | 1.79 |
| 179 | Ataxia-telangiectasia | Enrichment | BRAF | 1.79 |
| 180 | Nuchal bleb, familial | Enrichment | SOS1 | 1.79 |
| 181 | Osteogenic sarcoma | Enrichment | TP53 | 1.79 |
| 182 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.79 |
| 183 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.79 |
| 184 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.79 |
| 185 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.79 |
| 186 | Intellectual developmental disorder, autosomal dominant 44, with microcephaly | Enrichment | TRIO | 1.79 |
| 187 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.79 |
| 188 | Anaplastic astrocytoma | Enrichment | TP53 | 1.79 |
| 189 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.79 |
| 190 | Squamous cell carcinoma | Enrichment | TP53 | 1.79 |
| 191 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 1.79 |
| 192 | Adenocarcinoma | Enrichment | TP53 | 1.79 |
| 193 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 1.79 |
| 194 | Bone osteosarcoma | Enrichment | TP53 | 1.79 |
| 195 | Spermatocytoma | Enrichment | HRAS | 1.79 |
| 196 | Melanoma of soft tissue | Enrichment | CREB1 | 1.79 |
| 197 | Niemann-pick disease, type a | Enrichment | SMPD1 | 1.77 |
| 198 | Niemann-pick disease, type b | Enrichment | SMPD1 | 1.77 |
| 199 | Ceroid lipofuscinosis, neuronal, 6a | Enrichment | SMPD1 | 1.77 |
| 200 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.71 |
| 201 | Severe combined immunodeficiency | Enrichment | IKBKB | 1.71 |
| 202 | Left ventricular noncompaction | Enrichment | RAF1 | 1.69 |
| 203 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.66 |
| 204 | Small cell cancer of the lung | Enrichment | TP53 | 1.66 |
| 205 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.66 |
| 206 | Atrial fibrillation | Enrichment | SNTA1 | 1.66 |
| 207 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.66 |
| 208 | Craniopharyngioma | Enrichment | BRAF | 1.66 |
| 209 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.66 |
| 210 | Pilocytic astrocytoma | Enrichment | KRAS | 1.66 |
| 211 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.66 |
| 212 | Epidermolytic nevus | Enrichment | HRAS | 1.66 |
| 213 | Gingival fibromatosis | Enrichment | SOS1 | 1.66 |
| 214 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.66 |
| 215 | Gastric cancer | Enrichment | KRAS, TP53 | 1.64 |
| 216 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.57 |
| 217 | Lymphoma | Enrichment | TP53 | 1.57 |
| 218 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.57 |
| 219 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 1.57 |
| 220 | Hemimegalencephaly | Enrichment | AKT3 | 1.57 |
| 221 | Niemann-pick disease, type c1 | Enrichment | SMPD1 | 1.55 |
| 222 | Niemann-pick disease | Enrichment | SMPD1 | 1.55 |
| 223 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 1.51 |
| 224 | Li-fraumeni syndrome | Enrichment | TP53 | 1.49 |
| 225 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP | 1.49 |
| 226 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.49 |
| 227 | Wilms tumor 5 | Enrichment | BRAF | 1.49 |
| 228 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP | 1.49 |
| 229 | Adrenocortical carcinoma | Enrichment | TP53 | 1.49 |
| 230 | Lung squamous cell carcinoma | Enrichment | KRAS | 1.49 |
| 231 | Hypertrichosis | Enrichment | CREBBP | 1.49 |
| 232 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, TP53 | 1.44 |
| 233 | Esophageal cancer | Enrichment | TP53 | 1.43 |
| 234 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.43 |
| 235 | Essential thrombocythemia | Enrichment | TP53 | 1.43 |
| 236 | Megacolon | Enrichment | AKT3 | 1.43 |
| 237 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.43 |
| 238 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.43 |
| 239 | Glioma susceptibility 1 | Enrichment | TP53 | 1.37 |
| 240 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.37 |
| 241 | Dilated cardiomyopathy | Enrichment | RAF1 | 1.34 |
| 242 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.32 |
| 243 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.32 |
| 244 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.32 |
| 245 | Ventricular septal defect | Enrichment | BRAF | 1.32 |
| 246 | Cowden syndrome | Enrichment | AKT1 | 1.32 |
| 247 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.27 |
| 248 | Polymicrogyria | Enrichment | AKT3 | 1.27 |
| 249 | Melanoma | Enrichment | BRAF | 1.27 |
| 250 | Familial colorectal cancer | Enrichment | TP53 | 1.27 |
| 251 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.27 |
| 252 | Myelodysplastic syndrome | Enrichment | TP53 | 1.23 |
| 253 | Meningioma | Enrichment | AKT1 | 1.20 |
| 254 | Aortic valve disease 1 | Enrichment | SOS1 | 1.16 |
| 255 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.16 |
| 256 | Protein-deficiency anemia | Enrichment | NRAS | 1.16 |
| 257 | Microcephaly | Enrichment | MAPK1 | 1.15 |
| 258 | Heart disease | Enrichment | CREBBP | 1.13 |
| 259 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.13 |
| 260 | Wilms tumor 1 | Enrichment | BRAF | 1.10 |
| 261 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.10 |
| 262 | Lynch syndrome | Enrichment | KRAS | 1.10 |
| 263 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.10 |
| 264 | Rare genetic intellectual disability | Enrichment | CREBBP | 1.10 |
| 265 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.10 |
| 266 | Gliosarcoma | Enrichment | TP53 | 1.08 |
| 267 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.05 |
| 268 | Dandy-walker syndrome | Enrichment | BRAF | 1.05 |
| 269 | Syndromic intellectual disability | Enrichment | TRIO | 1.05 |
| 270 | Giant cell glioblastoma | Enrichment | TP53 | 1.05 |
| 271 | Hepatoblastoma | Enrichment | TP53 | 0.96 |
| 272 | Hepatocellular carcinoma | Enrichment | TP53 | 0.95 |
| 273 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.93 |
| 274 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 0.93 |
| 275 | Scoliosis | Enrichment | CREBBP | 0.91 |
| 276 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.88 |
| 277 | Prostate cancer | Enrichment | TP53 | 0.83 |
| 278 | Long qt syndrome 1 | Enrichment | SNTA1 | 0.82 |
| 279 | Long qt syndrome | Enrichment | SNTA1 | 0.81 |
| 280 | Peripheral nervous system disease | Enrichment | NGF | 0.79 |
| 281 | Neuropathy | Enrichment | NGF | 0.79 |
| 282 | Diamond-blackfan anemia | Enrichment | TP53 | 0.75 |
| 283 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.69 |
| 284 | Thrombocytopenia | Enrichment | CYCS | 0.64 |
| 285 | Primary ovarian insufficiency | Enrichment | NTRK1 | 0.56 |
| 286 | Autism | Enrichment | CREBBP | 0.49 |
| 287 | Congenital nervous system abnormality | Enrichment | CREBBP | 0.36 |
| 288 | Nervous system disease | Enrichment | CREBBP | 0.36 |
| 289 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.35 |
| 290 | Complex neurodevelopmental disorder | Enrichment | RAC3 | 0.31 |
| 291 | Inherited cancer-predisposing syndrome | Enrichment | TP53 | 0.29 |