| 1 | Rasopathy | Enrichment | BRAF, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS2 | 16.00 |
| 2 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1 | 11.21 |
| 3 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS2 | 10.67 |
| 4 | Noonan syndrome 3 | Enrichment | HRAS, PTPN11, RAF1, SOS1 | 8.93 |
| 5 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA, RASA1 | 8.38 |
| 6 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA, RASA1 | 8.17 |
| 7 | Bladder cancer | Enrichment | ERBB2, ERBB3, HRAS, PIK3CA, TP53 | 7.83 |
| 8 | Lung non-small cell carcinoma | Enrichment | ERBB2, HRAS, MAP2K1, PIK3CA | 7.77 |
| 9 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 7.60 |
| 10 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS, PIK3CA, TP53 | 7.21 |
| 11 | Colorectal cancer | Enrichment | AKT1, BAX, ERBB2, PIK3CA, PIK3R1, TP53 | 6.86 |
| 12 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, MAP2K1, MAP2K2 | 6.81 |
| 13 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, MAP2K1, MAP2K2 | 6.81 |
| 14 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, PTPN11, RAF1 | 6.81 |
| 15 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NGF, NTRK1 | 6.64 |
| 16 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA, TP53 | 6.39 |
| 17 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA, RASA1 | 6.30 |
| 18 | Gallbladder cancer | Enrichment | BRAF, PIK3CA, TP53 | 5.87 |
| 19 | Pilomyxoid astrocytoma | Enrichment | BRAF, NTRK2, RAF1 | 5.87 |
| 20 | Breast cancer | Enrichment | AKT1, JUN, PIK3CA, SHC1, TP53 | 5.71 |
| 21 | Ovarian cancer | Enrichment | AKT1, CDH1, CTNNB1, MAP3K1, MET, PIK3CA | 5.70 |
| 22 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, RAF1 | 5.67 |
| 23 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS, NTRK1, NTRK3 | 5.55 |
| 24 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.98 |
| 25 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.98 |
| 26 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.98 |
| 27 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 4.93 |
| 28 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1, MET | 4.86 |
| 29 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 4.67 |
| 30 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 4.45 |
| 31 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA | 4.45 |
| 32 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | CRKL, MAPK1 | 4.44 |
| 33 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF, MET | 4.37 |
| 34 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 4.22 |
| 35 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF, TP53 | 4.15 |
| 36 | Hepatocellular carcinoma | Enrichment | CTNNB1, MET, PIK3CA | 4.13 |
| 37 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 4.13 |
| 38 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 4.04 |
| 39 | Cowden syndrome 1 | Enrichment | PIK3CA, PTEN | 4.04 |
| 40 | Lymphoma | Enrichment | PTPN11, TP53 | 3.93 |
| 41 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.90 |
| 42 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, PTEN | 3.90 |
| 43 | Follicular thyroid carcinoma | Enrichment | HRAS, PTEN | 3.90 |
| 44 | Deafness, autosomal recessive 39 | Enrichment | HGF | 3.83 |
| 45 | Osteofibrous dysplasia | Enrichment | MET | 3.83 |
| 46 | Deafness, autosomal recessive 97 | Enrichment | MET | 3.83 |
| 47 | Autism 9 | Enrichment | MET | 3.83 |
| 48 | Arthrogryposis, distal, type 11 | Enrichment | MET | 3.83 |
| 49 | Hereditary breast carcinoma | Enrichment | AKT1, ESR1, PIK3CA | 3.83 |
| 50 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.80 |
| 51 | Glioma susceptibility 1 | Enrichment | ERBB2, TP53 | 3.67 |
| 52 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 3.66 |
| 53 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 3.66 |
| 54 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 3.66 |
| 55 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 3.66 |
| 56 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 3.66 |
| 57 | Lung cancer | Enrichment | FAS, MET, PIK3CA | 3.64 |
| 58 | Meningioma | Enrichment | AKT1, PIK3CA | 3.64 |
| 59 | Gastric cancer | Enrichment | ERBB2, PIK3CA, TP53 | 3.64 |
| 60 | Adult hepatocellular carcinoma | Enrichment | PIK3CA, TP53 | 3.57 |
| 61 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 3.53 |
| 62 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 3.53 |
| 63 | Papillary renal cell carcinoma | Enrichment | MET | 3.53 |
| 64 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF, TP53 | 3.49 |
| 65 | Specific learning disability | Enrichment | MAPK1, PTPN11 | 3.48 |
| 66 | Metachondromatosis | Enrichment | PTPN11 | 3.43 |
| 67 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 3.43 |
| 68 | Leopard syndrome 1 | Enrichment | PTPN11 | 3.43 |
| 69 | Malignant astrocytoma | Enrichment | PTPN11 | 3.43 |
| 70 | Primary hyperaldosteronism | Enrichment | BRAF, TP53 | 3.38 |
| 71 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1 | 3.35 |
| 72 | Renal cell carcinoma | Enrichment | MET | 3.35 |
| 73 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 3.18 |
| 74 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 3.18 |
| 75 | Hyper ige syndrome | Enrichment | STAT3 | 3.18 |
| 76 | Lung cancer susceptibility 3 | Enrichment | ERBB2, TP53 | 3.17 |
| 77 | Rhabdomyosarcoma | Enrichment | HRAS, PTEN | 3.15 |
| 78 | Werner syndrome | Enrichment | PTPN11 | 3.13 |
| 79 | Inherited cancer-predisposing syndrome | Enrichment | MET, PTPN11 | 3.04 |
| 80 | Myeloma, multiple | Enrichment | BRAF, PIK3R2, TP53 | 3.02 |
| 81 | Diffuse large b-cell lymphoma | Enrichment | PTEN, STAT3 | 2.99 |
| 82 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 2.99 |
| 83 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1, SOS1 | 2.98 |
| 84 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.96 |
| 85 | Arthrogryposis, distal, type 1a | Enrichment | MET | 2.93 |
| 86 | Endometrial cancer | Enrichment | PIK3CA, PTEN | 2.91 |
| 87 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | CACNA1C, RAF1 | 2.84 |
| 88 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 2.83 |
| 89 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 2.75 |
| 90 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 2.72 |
| 91 | Macrodactyly | Enrichment | PIK3CA | 2.72 |
| 92 | Proteus syndrome | Enrichment | AKT1 | 2.72 |
| 93 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.72 |
| 94 | Noonan syndrome 4 | Enrichment | SOS1 | 2.72 |
| 95 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.72 |
| 96 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.72 |
| 97 | Chromosome 20q11-q12 deletion syndrome | Enrichment | EPB41L1 | 2.72 |
| 98 | Noonan syndrome 9 | Enrichment | SOS2 | 2.72 |
| 99 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.72 |
| 100 | Short syndrome | Enrichment | PIK3R1 | 2.72 |
| 101 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.72 |
| 102 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.72 |
| 103 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.72 |
| 104 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.72 |
| 105 | Cowden syndrome 6 | Enrichment | AKT1 | 2.72 |
| 106 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.72 |
| 107 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.72 |
| 108 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.72 |
| 109 | Hypospadias | Enrichment | PIK3CA | 2.72 |
| 110 | Capillary hemangioma | Enrichment | AKT3 | 2.72 |
| 111 | Acute myeloid leukemia with multilineage dysplasia | Enrichment | NPM1 | 2.72 |
| 112 | Rare venous malformation | Enrichment | PIK3CA | 2.72 |
| 113 | Acute myeloid leukemia with npm1 somatic mutations | Enrichment | NPM1 | 2.72 |
| 114 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.72 |
| 115 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.72 |
| 116 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.72 |
| 117 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.72 |
| 118 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.72 |
| 119 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.72 |
| 120 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.72 |
| 121 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.72 |
| 122 | Macrodactyly of toe | Enrichment | PIK3CA | 2.72 |
| 123 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.72 |
| 124 | Spinocerebellar ataxia 41 | Enrichment | TRPC3 | 2.70 |
| 125 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.70 |
| 126 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.70 |
| 127 | Thrombocytopenia 6 | Enrichment | SRC | 2.70 |
| 128 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.70 |
| 129 | Patent ductus arteriosus | Enrichment | PTPN11 | 2.66 |
| 130 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 2.66 |
| 131 | Noonan syndrome 5 | Enrichment | RAF1 | 2.63 |
| 132 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.63 |
| 133 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.63 |
| 134 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.63 |
| 135 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.63 |
| 136 | Brugada syndrome 3 | Enrichment | CACNA1C | 2.63 |
| 137 | Thrombocytopenia 4 | Enrichment | CYCS | 2.63 |
| 138 | Melorheostosis | Enrichment | MAP2K1 | 2.63 |
| 139 | Leopard syndrome 2 | Enrichment | RAF1 | 2.63 |
| 140 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.63 |
| 141 | Trigonitis | Enrichment | RAF1 | 2.63 |
| 142 | Atypical timothy syndrome | Enrichment | CACNA1C | 2.63 |
| 143 | Timothy syndrome type 2 | Enrichment | CACNA1C | 2.63 |
| 144 | Timothy syndrome type 1 | Enrichment | CACNA1C | 2.63 |
| 145 | Cacna1c-related disorders | Enrichment | CACNA1C | 2.63 |
| 146 | Peripheral nervous system disease | Enrichment | NGF | 2.63 |
| 147 | Neuropathy | Enrichment | NGF | 2.63 |
| 148 | Prostate cancer | Enrichment | PIK3CA, PTEN | 2.62 |
| 149 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.60 |
| 150 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.60 |
| 151 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.60 |
| 152 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.60 |
| 153 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 2.60 |
| 154 | Glioma susceptibility 2 | Enrichment | PTEN | 2.60 |
| 155 | Gorham's disease | Enrichment | RASA1 | 2.60 |
| 156 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.60 |
| 157 | Temporomandibular joint anomaly | Enrichment | DOCK1 | 2.60 |
| 158 | Autism spectrum disorder | Enrichment | MAP2K1, PTEN, PTPN11 | 2.60 |
| 159 | Non-immune hydrops fetalis | Enrichment | HRAS, PTPN11 | 2.57 |
| 160 | Erythroleukemia, familial | Enrichment | ERBB3 | 2.55 |
| 161 | Paget disease, extramammary | Enrichment | ERBB2 | 2.55 |
| 162 | Lethal congenital contracture syndrome 2 | Enrichment | ERBB3 | 2.55 |
| 163 | Lissencephaly 7 with cerebellar hypoplasia | Enrichment | CDK5 | 2.55 |
| 164 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.55 |
| 165 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.55 |
| 166 | Papilloma of choroid plexus | Enrichment | TP53 | 2.55 |
| 167 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.55 |
| 168 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.55 |
| 169 | Ductal carcinoma in situ | Enrichment | TP53 | 2.55 |
| 170 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.55 |
| 171 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.55 |
| 172 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.55 |
| 173 | Choroid plexus cancer | Enrichment | TP53 | 2.55 |
| 174 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.55 |
| 175 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.55 |
| 176 | Acute promyelocytic leukemia | Enrichment | STAT3 | 2.54 |
| 177 | Hirschsprung disease 1 | Enrichment | ERBB2, ERBB3 | 2.53 |
| 178 | Lymphoproliferative syndrome, x-linked, 2 | Enrichment | XIAP | 2.46 |
| 179 | Noonan syndrome 7 | Enrichment | BRAF | 2.46 |
| 180 | Leopard syndrome 3 | Enrichment | BRAF | 2.46 |
| 181 | Low density lipoprotein cholesterol level quantitative trait locus 6 | Enrichment | SORT1 | 2.46 |
| 182 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.46 |
| 183 | Developmental and epileptic encephalopathy 58 | Enrichment | NTRK2 | 2.46 |
| 184 | Lymphangioma | Enrichment | BRAF | 2.46 |
| 185 | Phace association | Enrichment | BRAF | 2.46 |
| 186 | Glaucoma 1, open angle, o | Enrichment | NTF4 | 2.46 |
| 187 | Obesity, hyperphagia, and developmental delay | Enrichment | NTRK2 | 2.46 |
| 188 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.46 |
| 189 | Ganglioglioma | Enrichment | BRAF | 2.46 |
| 190 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.46 |
| 191 | Phace syndrome | Enrichment | BRAF | 2.46 |
| 192 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.46 |
| 193 | Classic hairy cell leukemia | Enrichment | BRAF | 2.46 |
| 194 | Severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency | Enrichment | SH2B1 | 2.46 |
| 195 | Immunodeficiency 40 | Enrichment | DOCK2 | 2.42 |
| 196 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.42 |
| 197 | Breast lobular carcinoma | Enrichment | CDH1 | 2.42 |
| 198 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.42 |
| 199 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.42 |
| 200 | Costello syndrome | Enrichment | HRAS | 2.42 |
| 201 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.42 |
| 202 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.42 |
| 203 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.42 |
| 204 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.42 |
| 205 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.42 |
| 206 | Immune system disease | Enrichment | PIK3CD | 2.42 |
| 207 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.42 |
| 208 | Acute myeloid leukemia without maturation | Enrichment | NPM1 | 2.42 |
| 209 | Lymphomatoid papulosis | Enrichment | NPM1 | 2.42 |
| 210 | Primary cutaneous anaplastic large cell lymphoma | Enrichment | NPM1 | 2.42 |
| 211 | Wooly hair nevus | Enrichment | HRAS | 2.42 |
| 212 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.40 |
| 213 | Pectus excavatum | Enrichment | PTPN11 | 2.39 |
| 214 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A, EPB41L1 | 2.36 |
| 215 | Epicanthus | Enrichment | PTPN11 | 2.35 |
| 216 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 2.35 |
| 217 | Congenital long qt syndrome | Enrichment | PTPN11 | 2.35 |
| 218 | Timothy syndrome | Enrichment | CACNA1C | 2.33 |
| 219 | Long qt syndrome 8 | Enrichment | CACNA1C | 2.33 |
| 220 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.33 |
| 221 | Tafro syndrome | Enrichment | MAP2K2 | 2.33 |
| 222 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.30 |
| 223 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.30 |
| 224 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.25 |
| 225 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | ERBB3 | 2.25 |
| 226 | Cervical cancer | Enrichment | TP53 | 2.25 |
| 227 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.25 |
| 228 | Congenital fibrosarcoma | Enrichment | TP53 | 2.25 |
| 229 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.25 |
| 230 | Sarcoma | Enrichment | TP53 | 2.25 |
| 231 | Cervix carcinoma | Enrichment | TP53 | 2.25 |
| 232 | Hodgkin's lymphoma | Enrichment | TP53 | 2.25 |
| 233 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.25 |
| 234 | Thrombocytopenia | Enrichment | CYCS, SRC | 2.25 |
| 235 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.24 |
| 236 | Nuchal bleb, familial | Enrichment | SOS1 | 2.24 |
| 237 | Large congenital melanocytic nevus | Enrichment | HRAS | 2.24 |
| 238 | Spermatocytoma | Enrichment | HRAS | 2.24 |
| 239 | Keratoacanthoma | Enrichment | PIK3CA | 2.24 |
| 240 | Melanoma of soft tissue | Enrichment | CREB1 | 2.22 |
| 241 | Patent foramen ovale | Enrichment | PTPN11 | 2.18 |
| 242 | Chromosome 16p11.2 deletion syndrome, 220-kb | Enrichment | SH2B1 | 2.16 |
| 243 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.16 |
| 244 | Congenital mesoblastic nephroma | Enrichment | NTRK3 | 2.16 |
| 245 | Chromosome 16p11.2 deletion syndrome, 593-kb | Enrichment | SH2B1 | 2.16 |
| 246 | Fibrosarcoma | Enrichment | NTRK3 | 2.16 |
| 247 | Estrogen resistance | Enrichment | ESR1 | 2.15 |
| 248 | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | Enrichment | CACNA1C | 2.15 |
| 249 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 2.15 |
| 250 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 2.15 |
| 251 | Migraine without aura | Enrichment | ESR1 | 2.15 |
| 252 | Sensorineural hearing loss | Enrichment | HGF | 2.15 |
| 253 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.12 |
| 254 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 2.12 |
| 255 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 2.12 |
| 256 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.12 |
| 257 | Quebec platelet disorder | Enrichment | PLAU | 2.12 |
| 258 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.12 |
| 259 | Teratoma | Enrichment | CTNNB1 | 2.12 |
| 260 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 2.12 |
| 261 | Cerebrovascular disease | Enrichment | PIK3CA | 2.12 |
| 262 | Epidermolytic nevus | Enrichment | HRAS | 2.12 |
| 263 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.12 |
| 264 | Gingival fibromatosis | Enrichment | SOS1 | 2.12 |
| 265 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 2.12 |
| 266 | Mantle cell lymphoma | Enrichment | CCND1 | 2.10 |
| 267 | Osteogenic sarcoma | Enrichment | TP53 | 2.08 |
| 268 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.08 |
| 269 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.08 |
| 270 | Anaplastic astrocytoma | Enrichment | TP53 | 2.08 |
| 271 | Squamous cell carcinoma | Enrichment | TP53 | 2.08 |
| 272 | Adenocarcinoma | Enrichment | TP53 | 2.08 |
| 273 | Bone osteosarcoma | Enrichment | TP53 | 2.08 |
| 274 | Primary ovarian insufficiency | Enrichment | NTRK1 | 2.06 |
| 275 | Scoliosis | Enrichment | PTPN11 | 2.05 |
| 276 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 2.03 |
| 277 | Ventricular fibrillation, paroxysmal familial, 1 | Enrichment | CACNA1C | 2.03 |
| 278 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 2.03 |
| 279 | Acute myeloid leukemia with maturation | Enrichment | NPM1 | 2.02 |
| 280 | Von hippel-lindau syndrome | Enrichment | CCND1 | 2.00 |
| 281 | Strabismus | Enrichment | PTPN11 | 2.00 |
| 282 | Congenital generalized lipodystrophy | Enrichment | FOS | 2.00 |
| 283 | Glioma | Enrichment | PTEN | 2.00 |
| 284 | Ataxia-telangiectasia | Enrichment | BRAF | 1.98 |
| 285 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.98 |
| 286 | Type 2 diabetes mellitus | Enrichment | AKT2, TCF7L2 | 1.96 |
| 287 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.96 |
| 288 | Small cell cancer of the lung | Enrichment | TP53 | 1.95 |
| 289 | Barrett esophagus | Enrichment | ERBB2 | 1.95 |
| 290 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.95 |
| 291 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.95 |
| 292 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.95 |
| 293 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.95 |
| 294 | Anus, imperforate | Enrichment | CTNNB1 | 1.95 |
| 295 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.95 |
| 296 | Desmoid tumor | Enrichment | CTNNB1 | 1.95 |
| 297 | Vogt-koyanagi-harada disease | Enrichment | FAS | 1.95 |
| 298 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.94 |
| 299 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.94 |
| 300 | Alzheimer disease 2 | Enrichment | NOS3 | 1.93 |
| 301 | Pre-eclampsia | Enrichment | NOS3 | 1.93 |
| 302 | Follicular lymphoma | Enrichment | BCL2 | 1.93 |
| 303 | Heart conduction disease | Enrichment | CACNA1C | 1.93 |
| 304 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 1.93 |
| 305 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.90 |
| 306 | Hemangioma | Enrichment | PTEN | 1.90 |
| 307 | Histiocytoid hemangioma | Enrichment | FOS | 1.90 |
| 308 | Acute megakaryocytic leukemia | Enrichment | PTEN | 1.90 |
| 309 | Megacolon | Enrichment | AKT3 | 1.87 |
| 310 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.87 |
| 311 | Lymphoproliferative syndrome 2 | Enrichment | XIAP | 1.86 |
| 312 | Craniopharyngioma | Enrichment | BRAF | 1.86 |
| 313 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.86 |
| 314 | Myelofibrosis | Enrichment | SRC | 1.86 |
| 315 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.86 |
| 316 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.83 |
| 317 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.83 |
| 318 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.83 |
| 319 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1 | 1.83 |
| 320 | Autoimmune lymphoproliferative syndrome | Enrichment | FAS | 1.83 |
| 321 | Pilomatrixoma | Enrichment | CTNNB1 | 1.83 |
| 322 | Alazami syndrome | Enrichment | CTNNB1 | 1.83 |
| 323 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 1.80 |
| 324 | Li-fraumeni syndrome | Enrichment | TP53 | 1.78 |
| 325 | Adrenocortical carcinoma | Enrichment | TP53 | 1.78 |
| 326 | Squamous cell carcinoma, head and neck | Enrichment | PTEN | 1.76 |
| 327 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.76 |
| 328 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.73 |
| 329 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.73 |
| 330 | Polymicrogyria | Enrichment | AKT3 | 1.72 |
| 331 | Esophageal cancer | Enrichment | TP53 | 1.71 |
| 332 | Essential thrombocythemia | Enrichment | TP53 | 1.71 |
| 333 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.71 |
| 334 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.70 |
| 335 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 1.69 |
| 336 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF | 1.69 |
| 337 | Wilms tumor 5 | Enrichment | BRAF | 1.69 |
| 338 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | CACNA1C | 1.68 |
| 339 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.65 |
| 340 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.65 |
| 341 | Stroke, ischemic | Enrichment | NOS3 | 1.63 |
| 342 | Aortic valve disease 1 | Enrichment | SOS1 | 1.61 |
| 343 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.61 |
| 344 | Melanoma | Enrichment | PTEN | 1.61 |
| 345 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.59 |
| 346 | Meningioma, familial | Enrichment | PTEN | 1.56 |
| 347 | Uterine corpus cancer | Enrichment | PTEN | 1.56 |
| 348 | Osteoporosis | Enrichment | SRC | 1.56 |
| 349 | Familial colorectal cancer | Enrichment | TP53 | 1.56 |
| 350 | Cardiac conduction defect | Enrichment | CACNA1C | 1.55 |
| 351 | Lynch syndrome | Enrichment | PIK3CA | 1.55 |
| 352 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.53 |
| 353 | Myelodysplastic syndrome | Enrichment | TP53 | 1.52 |
| 354 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.51 |
| 355 | Congenital central hypoventilation syndrome | Enrichment | BDNF | 1.51 |
| 356 | Ventricular septal defect | Enrichment | BRAF | 1.51 |
| 357 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 1.50 |
| 358 | Neural tube defects | Enrichment | ITGB1 | 1.49 |
| 359 | Dyskeratosis congenita | Enrichment | NPM1 | 1.45 |
| 360 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.43 |
| 361 | Microcephaly | Enrichment | MAPK1, PTPN11 | 1.42 |
| 362 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 1.40 |
| 363 | Hypertension, essential | Enrichment | NOS3 | 1.40 |
| 364 | Heart, malformation of | Enrichment | MAPK1 | 1.38 |
| 365 | Gliosarcoma | Enrichment | TP53 | 1.36 |
| 366 | Giant cell glioblastoma | Enrichment | TP53 | 1.33 |
| 367 | Myocardial infarction | Enrichment | ESR1 | 1.30 |
| 368 | Wilms tumor 1 | Enrichment | BRAF | 1.29 |
| 369 | Medulloblastoma | Enrichment | CTNNB1 | 1.29 |
| 370 | Cleft lip/palate | Enrichment | CDH1 | 1.29 |
| 371 | Hepatoblastoma | Enrichment | TP53 | 1.24 |
| 372 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.24 |
| 373 | Dandy-walker syndrome | Enrichment | BRAF | 1.24 |
| 374 | Brugada syndrome | Enrichment | CACNA1C | 1.22 |
| 375 | Polycystic liver disease | Enrichment | CTNNB1 | 1.21 |
| 376 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.21 |
| 377 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.20 |
| 378 | Arteriovenous malformations of the brain | Enrichment | BRAF | 1.19 |
| 379 | Pancreatic cancer | Enrichment | TP53 | 1.17 |
| 380 | Behcet syndrome | Enrichment | FAS | 1.16 |
| 381 | Long qt syndrome | Enrichment | CACNA1C | 1.15 |
| 382 | Leukemia, acute myeloid | Enrichment | NPM1 | 1.13 |
| 383 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.12 |
| 384 | Left ventricular noncompaction | Enrichment | RAF1 | 1.10 |
| 385 | Autoinflammatory disease | Enrichment | XIAP | 1.10 |
| 386 | Cerebral palsy | Enrichment | CACNA1C | 1.05 |
| 387 | Hypertelorism | Enrichment | PIK3CA | 1.02 |
| 388 | Diamond-blackfan anemia | Enrichment | TP53 | 1.02 |
| 389 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.93 |
| 390 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN | 0.89 |
| 391 | West syndrome | Enrichment | NTRK2 | 0.85 |
| 392 | Body mass index quantitative trait locus 11 | Enrichment | BDNF | 0.80 |
| 393 | Undetermined early-onset epileptic encephalopathy | Enrichment | NTRK2 | 0.75 |
| 394 | Congenital nervous system abnormality | Enrichment | PTEN | 0.63 |
| 395 | Nervous system disease | Enrichment | PTEN | 0.63 |
| 396 | Autism | Enrichment | TCF7L2 | 0.62 |
| 397 | Complex neurodevelopmental disorder | Enrichment | CACNA1C | 0.59 |