| 1 | Rasopathy | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS2 | 16.00 |
| 2 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1 | 10.51 |
| 3 | Noonan syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS2 | 10.41 |
| 4 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 8.66 |
| 5 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 8.66 |
| 6 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA, RASA1 | 7.56 |
| 7 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA, RASA1 | 7.33 |
| 8 | Noonan syndrome 3 | Enrichment | KRAS, PTPN11, RAF1, SOS1 | 7.13 |
| 9 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 6.62 |
| 10 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, JAK2, STAT3 | 6.49 |
| 11 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, PTPN11, RAF1 | 5.89 |
| 12 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA, RASA1 | 5.69 |
| 13 | Bladder cancer | Enrichment | BRCA1, HRAS, NF1, PIK3CA | 5.31 |
| 14 | Lung non-small cell carcinoma | Enrichment | HRAS, MAP2K1, PIK3CA | 5.02 |
| 15 | Pilomyxoid astrocytoma | Enrichment | BRAF, KRAS, RAF1 | 4.96 |
| 16 | Breast cancer | Enrichment | AKT1, BRCA1, ESR1, JUN, PIK3CA | 4.94 |
| 17 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG, NFKBIA | 4.81 |
| 18 | Colorectal cancer | Enrichment | AKT1, BRCA1, PIK3CA, PIK3R1, SRC | 4.62 |
| 19 | Hereditary breast carcinoma | Enrichment | AKT1, BRCA1, ESR1, PIK3CA | 4.57 |
| 20 | Rhabdomyosarcoma | Enrichment | BRCA1, HRAS, NF1 | 4.49 |
| 21 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.33 |
| 22 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.33 |
| 23 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.33 |
| 24 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 4.32 |
| 25 | Immune system disease | Enrichment | CDC42, PIK3CD | 4.32 |
| 26 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.30 |
| 27 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2, NF1 | 4.03 |
| 28 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 4.03 |
| 29 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3, STAT3 | 3.85 |
| 30 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 3.85 |
| 31 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 3.81 |
| 32 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA | 3.81 |
| 33 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 3.64 |
| 34 | Hemangioma, capillary infantile | Enrichment | KDR, RASA1 | 3.64 |
| 35 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.64 |
| 36 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42, PTPN11 | 3.55 |
| 37 | Diffuse large b-cell lymphoma | Enrichment | BRAF, FOXO1, STAT3 | 3.54 |
| 38 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 3.49 |
| 39 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 3.49 |
| 40 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 3.37 |
| 41 | Histiocytoid hemangioma | Enrichment | FOS, FOSB | 3.33 |
| 42 | Alzheimer disease 2 | Enrichment | NOS3, PLAU | 3.31 |
| 43 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.26 |
| 44 | Gastric cancer | Enrichment | BRCA1, NF1, PIK3CA | 3.18 |
| 45 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.16 |
| 46 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.14 |
| 47 | Myelofibrosis | Enrichment | JAK2, SRC | 3.01 |
| 48 | Gallbladder cancer | Enrichment | BRAF, KRAS | 3.01 |
| 49 | Meningioma | Enrichment | AKT1, PIK3CA | 3.00 |
| 50 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 3.00 |
| 51 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 2.76 |
| 52 | Stroke, ischemic | Enrichment | NOS3, PRKCH | 2.67 |
| 53 | Specific learning disability | Enrichment | MAPK1, PTPN11 | 2.60 |
| 54 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, PTPN11 | 2.52 |
| 55 | Endometrial cancer | Enrichment | BRCA1, PIK3CA | 2.51 |
| 56 | Nk-cell enteropathy | Enrichment | JAK3, PIK3CB | 2.45 |
| 57 | Malaria | Enrichment | ICAM1, IKBKG | 2.43 |
| 58 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.40 |
| 59 | Macrodactyly | Enrichment | PIK3CA | 2.40 |
| 60 | Proteus syndrome | Enrichment | AKT1 | 2.40 |
| 61 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.40 |
| 62 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.40 |
| 63 | Incontinentia pigmenti | Enrichment | IKBKG | 2.40 |
| 64 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.40 |
| 65 | Noonan syndrome 5 | Enrichment | RAF1 | 2.40 |
| 66 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.40 |
| 67 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.40 |
| 68 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.40 |
| 69 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.40 |
| 70 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.40 |
| 71 | Fetal encasement syndrome | Enrichment | CHUK | 2.40 |
| 72 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.40 |
| 73 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.40 |
| 74 | Immunodeficiency 15b | Enrichment | IKBKB | 2.40 |
| 75 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.40 |
| 76 | Immunodeficiency 15a | Enrichment | IKBKB | 2.40 |
| 77 | Immunodeficiency 92 | Enrichment | REL | 2.40 |
| 78 | Short syndrome | Enrichment | PIK3R1 | 2.40 |
| 79 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.40 |
| 80 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.40 |
| 81 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.40 |
| 82 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.40 |
| 83 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.40 |
| 84 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.40 |
| 85 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.40 |
| 86 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.40 |
| 87 | Melorheostosis | Enrichment | MAP2K1 | 2.40 |
| 88 | Leopard syndrome 2 | Enrichment | RAF1 | 2.40 |
| 89 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.40 |
| 90 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.40 |
| 91 | Cowden syndrome 6 | Enrichment | AKT1 | 2.40 |
| 92 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.40 |
| 93 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.40 |
| 94 | Congenital heart defects and ectodermal dysplasia | Enrichment | PRKD1 | 2.40 |
| 95 | Thrombocytopenia 6 | Enrichment | SRC | 2.40 |
| 96 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.40 |
| 97 | Immunodeficiency 53 | Enrichment | RELB | 2.40 |
| 98 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.40 |
| 99 | Trigonitis | Enrichment | RAF1 | 2.40 |
| 100 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.40 |
| 101 | Tufted angioma of skin | Enrichment | KDR | 2.40 |
| 102 | Plexiform neurofibroma | Enrichment | NF1 | 2.40 |
| 103 | Neurofibroma | Enrichment | NF1 | 2.40 |
| 104 | Hypospadias | Enrichment | PIK3CA | 2.40 |
| 105 | Capillary hemangioma | Enrichment | AKT3 | 2.40 |
| 106 | Neurofibromatosis | Enrichment | NF1 | 2.40 |
| 107 | Chromosome 17q11.2 deletion syndrome | Enrichment | NF1 | 2.40 |
| 108 | Optic nerve glioma | Enrichment | NF1 | 2.40 |
| 109 | Rare venous malformation | Enrichment | PIK3CA | 2.40 |
| 110 | Gorham's disease | Enrichment | RASA1 | 2.40 |
| 111 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.40 |
| 112 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.40 |
| 113 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.40 |
| 114 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.40 |
| 115 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.40 |
| 116 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.40 |
| 117 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.40 |
| 118 | Malignant epithelial tumor of salivary glands | Enrichment | PRKD1 | 2.40 |
| 119 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.40 |
| 120 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.40 |
| 121 | Macrodactyly of toe | Enrichment | PIK3CA | 2.40 |
| 122 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.40 |
| 123 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.40 |
| 124 | Lung cancer susceptibility 3 | Enrichment | BRAF, KRAS | 2.39 |
| 125 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1, SOS1 | 2.37 |
| 126 | Thrombocytopenia | Enrichment | ITGB3, PTPN11, SRC | 2.35 |
| 127 | Wilms tumor 1 | Enrichment | BRAF, GPC3 | 2.33 |
| 128 | Ovarian cancer | Enrichment | AKT1, CTNNB1, MAP3K1, PIK3CA | 2.24 |
| 129 | Prostate cancer | Enrichment | BRCA1, PIK3CA | 2.23 |
| 130 | Alzheimer disease, familial, 1 | Enrichment | NOS3, PLAU | 2.20 |
| 131 | Myeloma, multiple | Enrichment | BRAF, KRAS, PIK3R2 | 2.16 |
| 132 | Metachondromatosis | Enrichment | PTPN11 | 2.16 |
| 133 | Glycoprotein storage disease | Enrichment | GAA | 2.16 |
| 134 | Oculoectodermal syndrome | Enrichment | KRAS | 2.16 |
| 135 | Pallister-killian syndrome | Enrichment | ARAF | 2.16 |
| 136 | Noonan syndrome 4 | Enrichment | SOS1 | 2.16 |
| 137 | Noonan syndrome 7 | Enrichment | BRAF | 2.16 |
| 138 | Leopard syndrome 3 | Enrichment | BRAF | 2.16 |
| 139 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.16 |
| 140 | Noonan syndrome 9 | Enrichment | SOS2 | 2.16 |
| 141 | Knobloch syndrome 2 | Enrichment | PAK2 | 2.16 |
| 142 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.16 |
| 143 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.16 |
| 144 | Lymphangioma | Enrichment | BRAF | 2.16 |
| 145 | Phace association | Enrichment | BRAF | 2.16 |
| 146 | Charcot-marie-tooth disease, axonal, type 2f | Enrichment | HSPB1 | 2.16 |
| 147 | Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder | Enrichment | PLA2G4A | 2.16 |
| 148 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.16 |
| 149 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.16 |
| 150 | Neurocardiofaciodigital syndrome | Enrichment | MAPKAPK5 | 2.16 |
| 151 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.16 |
| 152 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.16 |
| 153 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets | Enrichment | PLA2G4A | 2.16 |
| 154 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.16 |
| 155 | T-b+ severe combined immunodeficiency due to jak3 deficiency | Enrichment | JAK3 | 2.16 |
| 156 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.16 |
| 157 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.16 |
| 158 | Pompe disease, late-onset | Enrichment | GAA | 2.16 |
| 159 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.16 |
| 160 | Nocarh syndrome | Enrichment | CDC42 | 2.16 |
| 161 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.16 |
| 162 | Ganglioglioma | Enrichment | BRAF | 2.16 |
| 163 | Cryptogenic multifocal ulcerous stenosing enteritis | Enrichment | PLA2G4A | 2.16 |
| 164 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.16 |
| 165 | Phace syndrome | Enrichment | BRAF | 2.16 |
| 166 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.16 |
| 167 | Classic hairy cell leukemia | Enrichment | BRAF | 2.16 |
| 168 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.16 |
| 169 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.16 |
| 170 | Malignant astrocytoma | Enrichment | PTPN11 | 2.16 |
| 171 | Anhidrosis, isolated, with normal sweat glands | Enrichment | ITPR2 | 2.15 |
| 172 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.15 |
| 173 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.15 |
| 174 | Charcot-marie-tooth disease, demyelinating, type 1j | Enrichment | ITPR3 | 2.15 |
| 175 | Developmental and epileptic encephalopathy 91 | Enrichment | PPP3CA | 2.15 |
| 176 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | Enrichment | PPP3CA | 2.15 |
| 177 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.15 |
| 178 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.15 |
| 179 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.15 |
| 180 | Becker nevus syndrome | Enrichment | ACTB | 2.15 |
| 181 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.15 |
| 182 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.15 |
| 183 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.15 |
| 184 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.15 |
| 185 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.15 |
| 186 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.15 |
| 187 | Baraitser-winter syndrome | Enrichment | ACTB | 2.15 |
| 188 | Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy | Enrichment | ITPR3 | 2.15 |
| 189 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.15 |
| 190 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.15 |
| 191 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.15 |
| 192 | Lung cancer | Enrichment | BRCA1, PIK3CA | 2.15 |
| 193 | Arteriovenous malformations of the brain | Enrichment | BRAF, KRAS | 2.12 |
| 194 | Primary ovarian insufficiency | Enrichment | JAK2, KDR, NOS3 | 2.10 |
| 195 | Cafe-au-lait spots, multiple | Enrichment | NF1 | 2.10 |
| 196 | Costello syndrome | Enrichment | HRAS | 2.10 |
| 197 | Immunodeficiency 33 | Enrichment | IKBKG | 2.10 |
| 198 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.10 |
| 199 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.10 |
| 200 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.10 |
| 201 | Angioma, tufted | Enrichment | KDR | 2.10 |
| 202 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.10 |
| 203 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.10 |
| 204 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 2.10 |
| 205 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.10 |
| 206 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.10 |
| 207 | Chromosome 17q11.2 duplication syndrome, 1.4-mb | Enrichment | NF1 | 2.10 |
| 208 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.10 |
| 209 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.10 |
| 210 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.10 |
| 211 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.10 |
| 212 | Bardet-biedl syndrome 9 | Enrichment | NF1 | 2.10 |
| 213 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.10 |
| 214 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.10 |
| 215 | Inflammatory breast carcinoma | Enrichment | BRCA1 | 2.10 |
| 216 | Peritoneum cancer | Enrichment | BRCA1 | 2.10 |
| 217 | Bilateral breast cancer | Enrichment | BRCA1 | 2.10 |
| 218 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.10 |
| 219 | Pleomorphic rhabdomyosarcoma | Enrichment | NF1 | 2.10 |
| 220 | Tafro syndrome | Enrichment | MAP2K2 | 2.10 |
| 221 | Wooly hair nevus | Enrichment | HRAS | 2.10 |
| 222 | Hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 1.98 |
| 223 | Microcephaly | Enrichment | ACTB, ACTG1, CTNNB1, MAPK1 | 1.95 |
| 224 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.92 |
| 225 | Watson syndrome | Enrichment | NF1 | 1.92 |
| 226 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 1.92 |
| 227 | Neurofibromatosis, familial spinal | Enrichment | NF1 | 1.92 |
| 228 | Estrogen resistance | Enrichment | ESR1 | 1.92 |
| 229 | Chromosome 17q11.2 deletion syndrome, 1.4-mb | Enrichment | NF1 | 1.92 |
| 230 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.92 |
| 231 | Wieacker-wolff syndrome | Enrichment | RASA1 | 1.92 |
| 232 | Migraine without aura | Enrichment | ESR1 | 1.92 |
| 233 | Brain cancer | Enrichment | NF1 | 1.92 |
| 234 | Spermatocytoma | Enrichment | HRAS | 1.92 |
| 235 | Keratoacanthoma | Enrichment | PIK3CA | 1.92 |
| 236 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.86 |
| 237 | Omodysplasia 1 | Enrichment | GPC6 | 1.86 |
| 238 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.86 |
| 239 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.86 |
| 240 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS | 1.86 |
| 241 | Neuronopathy, distal hereditary motor, autosomal dominant 3 | Enrichment | HSPB1 | 1.86 |
| 242 | Thrombocythemia 3 | Enrichment | JAK2 | 1.86 |
| 243 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.86 |
| 244 | Werner syndrome | Enrichment | PTPN11 | 1.86 |
| 245 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 1.86 |
| 246 | Polycythemia | Enrichment | JAK2 | 1.86 |
| 247 | Hypereosinophilic syndrome | Enrichment | JAK2 | 1.86 |
| 248 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 1.85 |
| 249 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.85 |
| 250 | Quebec platelet disorder | Enrichment | PLAU | 1.85 |
| 251 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 1.85 |
| 252 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 1.85 |
| 253 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.85 |
| 254 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.85 |
| 255 | Teratoma | Enrichment | CTNNB1 | 1.85 |
| 256 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.80 |
| 257 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1 | 1.80 |
| 258 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.80 |
| 259 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.80 |
| 260 | Cholangiocarcinoma | Enrichment | BRCA1 | 1.80 |
| 261 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.80 |
| 262 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 1.80 |
| 263 | Hereditary ataxia | Enrichment | PRKCG | 1.80 |
| 264 | Cerebrovascular disease | Enrichment | PIK3CA | 1.80 |
| 265 | Embryonal rhabdomyosarcoma | Enrichment | NF1 | 1.80 |
| 266 | Pilocytic astrocytoma | Enrichment | NF1 | 1.80 |
| 267 | Epidermolytic nevus | Enrichment | HRAS | 1.80 |
| 268 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.80 |
| 269 | Cerebral malaria | Enrichment | ICAM1 | 1.80 |
| 270 | Middle aortic syndrome | Enrichment | NF1 | 1.80 |
| 271 | Severe covid-19 | Enrichment | ITGAV, JAK3 | 1.77 |
| 272 | Differentiated thyroid carcinoma | Enrichment | BRAF, KRAS | 1.77 |
| 273 | Non-immune hydrops fetalis | Enrichment | KRAS, PTPN11 | 1.71 |
| 274 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.70 |
| 275 | Rhabdomyosarcoma 2 | Enrichment | NF1 | 1.70 |
| 276 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1 | 1.70 |
| 277 | Hereditary breast ovarian cancer syndrome | Enrichment | BRCA1, NF1 | 1.69 |
| 278 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | JAK3 | 1.69 |
| 279 | Ataxia-telangiectasia | Enrichment | BRAF | 1.69 |
| 280 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.69 |
| 281 | Glycogen storage disease iv | Enrichment | GAA | 1.69 |
| 282 | Polycythemia vera | Enrichment | JAK2 | 1.69 |
| 283 | Simpson-golabi-behmel syndrome, type 1 | Enrichment | GPC3 | 1.69 |
| 284 | Nuchal bleb, familial | Enrichment | SOS1 | 1.69 |
| 285 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.69 |
| 286 | Hyper ige syndrome | Enrichment | STAT3 | 1.69 |
| 287 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.69 |
| 288 | Melanoma of soft tissue | Enrichment | CREB1 | 1.69 |
| 289 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.69 |
| 290 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.68 |
| 291 | Gillespie syndrome | Enrichment | ITPR1 | 1.68 |
| 292 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.68 |
| 293 | Anus, imperforate | Enrichment | CTNNB1 | 1.68 |
| 294 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.68 |
| 295 | Desmoid tumor | Enrichment | CTNNB1 | 1.68 |
| 296 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.63 |
| 297 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.63 |
| 298 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.63 |
| 299 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.63 |
| 300 | Cakut | Enrichment | ACTG1, TRAP1 | 1.62 |
| 301 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.56 |
| 302 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.56 |
| 303 | Glycogen storage disease ia | Enrichment | GAA | 1.56 |
| 304 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.56 |
| 305 | Budd-chiari syndrome | Enrichment | JAK2 | 1.56 |
| 306 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.56 |
| 307 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS | 1.56 |
| 308 | Craniopharyngioma | Enrichment | BRAF | 1.56 |
| 309 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.56 |
| 310 | Adenosine deaminase deficiency | Enrichment | JAK3 | 1.56 |
| 311 | Knobloch syndrome | Enrichment | PAK2 | 1.56 |
| 312 | Gingival fibromatosis | Enrichment | SOS1 | 1.56 |
| 313 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.56 |
| 314 | Pseudomyogenic hemangioendothelioma | Enrichment | FOSB | 1.56 |
| 315 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.56 |
| 316 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.56 |
| 317 | Megacolon | Enrichment | AKT3 | 1.56 |
| 318 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.56 |
| 319 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.56 |
| 320 | Pilomatrixoma | Enrichment | CTNNB1 | 1.55 |
| 321 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 1.55 |
| 322 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.55 |
| 323 | Alazami syndrome | Enrichment | CTNNB1 | 1.55 |
| 324 | Leukemia, acute myeloid | Enrichment | JAK2, KRAS | 1.51 |
| 325 | Ewing sarcoma | Enrichment | NF1 | 1.50 |
| 326 | Neuronopathy, distal hereditary motor, autosomal dominant 2 | Enrichment | HSPB1 | 1.47 |
| 327 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | JAK3 | 1.47 |
| 328 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.47 |
| 329 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.47 |
| 330 | Pre-eclampsia | Enrichment | NOS3 | 1.47 |
| 331 | Lymphoma | Enrichment | PTPN11 | 1.47 |
| 332 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.47 |
| 333 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.46 |
| 334 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.46 |
| 335 | Neurofibromatosis, type i | Enrichment | NF1 | 1.45 |
| 336 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.45 |
| 337 | Coronary heart disease 5 | Enrichment | IKBKG | 1.45 |
| 338 | Leukemia, acute lymphoblastic 3 | Enrichment | NF1 | 1.45 |
| 339 | Type 2 diabetes mellitus | Enrichment | AKT2, TCF7L2 | 1.45 |
| 340 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.41 |
| 341 | Polymicrogyria | Enrichment | AKT3 | 1.41 |
| 342 | Wilms tumor 5 | Enrichment | BRAF | 1.39 |
| 343 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.39 |
| 344 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.39 |
| 345 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.38 |
| 346 | Congenital anomalies of kidney and urinary tract 1 | Enrichment | TRAP1 | 1.38 |
| 347 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 1.38 |
| 348 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.38 |
| 349 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.37 |
| 350 | Uterine corpus cancer | Enrichment | BRCA1 | 1.37 |
| 351 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.32 |
| 352 | Leukemia, chronic myeloid | Enrichment | KRAS | 1.32 |
| 353 | Essential thrombocythemia | Enrichment | JAK2 | 1.32 |
| 354 | Breast-ovarian cancer, familial 1 | Enrichment | BRCA1 | 1.30 |
| 355 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.30 |
| 356 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1, VCL | 1.27 |
| 357 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.27 |
| 358 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.27 |
| 359 | Osteoporosis | Enrichment | SRC | 1.26 |
| 360 | Pheochromocytoma | Enrichment | NF1 | 1.26 |
| 361 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.26 |
| 362 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.26 |
| 363 | Lynch syndrome | Enrichment | PIK3CA | 1.24 |
| 364 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.22 |
| 365 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.22 |
| 366 | Primary hyperaldosteronism | Enrichment | BRAF | 1.22 |
| 367 | Ventricular septal defect | Enrichment | BRAF | 1.22 |
| 368 | Gliosarcoma | Enrichment | NFKBIA | 1.21 |
| 369 | Giant cell glioblastoma | Enrichment | NFKBIA | 1.18 |
| 370 | Melanoma | Enrichment | BRAF | 1.17 |
| 371 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.17 |
| 372 | Cat eye syndrome | Enrichment | ACTG1 | 1.16 |
| 373 | Heart, malformation of | Enrichment | MAPK1 | 1.16 |
| 374 | Autism spectrum disorder | Enrichment | MAP2K1, NF1 | 1.16 |
| 375 | Pectus excavatum | Enrichment | PTPN11 | 1.13 |
| 376 | Glycogen storage disease | Enrichment | GAA | 1.13 |
| 377 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.12 |
| 378 | Epicanthus | Enrichment | PTPN11 | 1.10 |
| 379 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.10 |
| 380 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | NF1 | 1.09 |
| 381 | Myocardial infarction | Enrichment | ESR1 | 1.08 |
| 382 | Skin disease | Enrichment | NF1 | 1.08 |
| 383 | Aortic valve disease 1 | Enrichment | SOS1 | 1.06 |
| 384 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.06 |
| 385 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.04 |
| 386 | Multiple sclerosis | Enrichment | ITPR1 | 1.02 |
| 387 | Medulloblastoma | Enrichment | CTNNB1 | 1.02 |
| 388 | Pancreatic cancer | Enrichment | BRCA1 | 1.02 |
| 389 | Inherited cancer-predisposing syndrome | Enrichment | BRCA1, NF1 | 1.01 |
| 390 | Tetralogy of fallot | Enrichment | KDR | 1.01 |
| 391 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.01 |
| 392 | Anterior segment dysgenesis | Enrichment | ITPR1 | 1.00 |
| 393 | Creatine phosphokinase, elevated serum | Enrichment | GAA | 0.98 |
| 394 | Isolated elevated serum creatine phosphokinase levels | Enrichment | GAA | 0.98 |
| 395 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 0.97 |
| 396 | Hypertension, essential | Enrichment | NOS3 | 0.95 |
| 397 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 0.95 |
| 398 | Dandy-walker syndrome | Enrichment | BRAF | 0.95 |
| 399 | Polycystic liver disease | Enrichment | CTNNB1 | 0.94 |
| 400 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 0.94 |
| 401 | Patent foramen ovale | Enrichment | PTPN11 | 0.93 |
| 402 | Human immunodeficiency virus type 1 | Enrichment | CCL2 | 0.92 |
| 403 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.91 |
| 404 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.91 |
| 405 | Fanconi anemia, complementation group a | Enrichment | BRCA1 | 0.88 |
| 406 | Left ventricular noncompaction | Enrichment | RAF1 | 0.88 |
| 407 | Lissencephaly | Enrichment | ACTG1 | 0.86 |
| 408 | Hepatoblastoma | Enrichment | CTNNB1 | 0.86 |
| 409 | Scoliosis | Enrichment | PTPN11 | 0.81 |
| 410 | Strabismus | Enrichment | PTPN11 | 0.77 |
| 411 | Hypertelorism | Enrichment | PIK3CA | 0.73 |
| 412 | Long qt syndrome 1 | Enrichment | PTPN11 | 0.72 |
| 413 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.65 |
| 414 | Myopathy | Enrichment | GAA | 0.61 |
| 415 | Charcot-marie-tooth disease | Enrichment | HSPB1 | 0.60 |
| 416 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.59 |
| 417 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.59 |
| 418 | Body mass index quantitative trait locus 11 | Enrichment | SDC3 | 0.53 |
| 419 | Autosomal dominant non-syndromic intellectual disability | Enrichment | PPP3CA | 0.52 |
| 420 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.51 |
| 421 | Spastic ataxia | Enrichment | ITPR1 | 0.50 |
| 422 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.49 |
| 423 | Undetermined early-onset epileptic encephalopathy | Enrichment | PPP3CA | 0.48 |
| 424 | Autism | Enrichment | TCF7L2 | 0.40 |
| 425 | Rare genetic deafness | Enrichment | GAA | 0.37 |
| 426 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.28 |
| 427 | Nervous system disease | Enrichment | CTNNB1 | 0.28 |
| 428 | Complex neurodevelopmental disorder | Enrichment | TCF7L2 | 0.23 |