| 1 | Rasopathy | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 16.00 |
| 2 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, KRAS, MAP2K1, NRAS, PIK3CA | 10.80 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 10.68 |
| 4 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 10.64 |
| 5 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 10.33 |
| 6 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 10.33 |
| 7 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 9.34 |
| 8 | Pilomyxoid astrocytoma | Enrichment | BRAF, FGFR1, KRAS, RAF1 | 9.34 |
| 9 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, NRAS, RAF1 | 9.05 |
| 10 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS, KRAS, NRAS, RET | 8.62 |
| 11 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS, KIT, PIK3CA | 8.21 |
| 12 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 8.15 |
| 13 | Colorectal cancer | Enrichment | AKT1, BRAF, NRAS, PIK3CA, PIK3R1, RET | 7.81 |
| 14 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.55 |
| 15 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA | 6.85 |
| 16 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 6.67 |
| 17 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS | 6.61 |
| 18 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1, PIK3CA | 6.61 |
| 19 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1 | 6.61 |
| 20 | Gallbladder cancer | Enrichment | BRAF, KRAS, PIK3CA | 6.61 |
| 21 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS | 6.61 |
| 22 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA | 6.23 |
| 23 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA | 6.08 |
| 24 | Leukemia, acute myeloid | Enrichment | FLT3, KIT, KRAS, NRAS | 5.97 |
| 25 | Ovarian cancer | Enrichment | AKT1, KIT, KRAS, PIK3CA, RET | 5.83 |
| 26 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PIK3CA, RET | 5.80 |
| 27 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1, KRAS | 5.42 |
| 28 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.42 |
| 29 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 5.42 |
| 30 | Myeloma, multiple | Enrichment | BRAF, FLT3, KRAS, PIK3R2 | 5.37 |
| 31 | Lung cancer | Enrichment | BRAF, CASP8, KRAS, PIK3CA | 5.20 |
| 32 | Breast cancer | Enrichment | AKT1, CASP8, JUN, KRAS, PIK3CA | 5.02 |
| 33 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.94 |
| 34 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.94 |
| 35 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.94 |
| 36 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.94 |
| 37 | Tetralogy of fallot | Enrichment | FLT4, KDR, RET | 4.75 |
| 38 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.64 |
| 39 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 4.64 |
| 40 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | FLT3, KIT | 4.64 |
| 41 | Bladder cancer | Enrichment | HRAS, KRAS, PIK3CA | 4.61 |
| 42 | Non-immune hydrops fetalis | Enrichment | FLT4, HRAS, KRAS | 4.52 |
| 43 | Acute myeloid leukemia with maturation | Enrichment | FLT3, KIT | 4.42 |
| 44 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | FLT3, KIT | 4.42 |
| 45 | Primary hypereosinophilic syndrome | Enrichment | FGFR1, PDGFRB | 4.42 |
| 46 | Hemangioma, capillary infantile | Enrichment | FLT4, KDR | 4.24 |
| 47 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 4.24 |
| 48 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.10 |
| 49 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 4.07 |
| 50 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.87 |
| 51 | Pre-eclampsia | Enrichment | FLT1, NOS3 | 3.84 |
| 52 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA | 3.84 |
| 53 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.77 |
| 54 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 3.60 |
| 55 | Meningioma | Enrichment | AKT1, PIK3CA | 3.60 |
| 56 | Lung cancer susceptibility 3 | Enrichment | BRAF, KRAS | 3.47 |
| 57 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 3.40 |
| 58 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF, CASP10 | 3.40 |
| 59 | Dandy-walker syndrome | Enrichment | BRAF, PDGFRB | 3.29 |
| 60 | Adult hepatocellular carcinoma | Enrichment | CASP8, PIK3CA | 3.29 |
| 61 | Gastric cancer | Enrichment | CASP10, KRAS, PIK3CA | 3.23 |
| 62 | Stroke, ischemic | Enrichment | NOS3, PRKCH | 3.20 |
| 63 | Arteriovenous malformations of the brain | Enrichment | BRAF, KRAS | 3.19 |
| 64 | Hepatocellular carcinoma | Enrichment | PIK3CA, RET | 3.07 |
| 65 | Hydrops fetalis, nonimmune | Enrichment | FLT4, HRAS | 2.92 |
| 66 | Multiple endocrine neoplasia, type iib | Enrichment | RET | 2.70 |
| 67 | Macrodactyly | Enrichment | PIK3CA | 2.70 |
| 68 | Proteus syndrome | Enrichment | AKT1 | 2.70 |
| 69 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.70 |
| 70 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.70 |
| 71 | Oculoectodermal syndrome | Enrichment | KRAS | 2.70 |
| 72 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.70 |
| 73 | Noonan syndrome 5 | Enrichment | RAF1 | 2.70 |
| 74 | Mastocytosis, cutaneous | Enrichment | KIT | 2.70 |
| 75 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.70 |
| 76 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.70 |
| 77 | Noonan syndrome 7 | Enrichment | BRAF | 2.70 |
| 78 | Leopard syndrome 3 | Enrichment | BRAF | 2.70 |
| 79 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.70 |
| 80 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.70 |
| 81 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.70 |
| 82 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.70 |
| 83 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.70 |
| 84 | Noonan syndrome 6 | Enrichment | NRAS | 2.70 |
| 85 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.70 |
| 86 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.70 |
| 87 | Short syndrome | Enrichment | PIK3R1 | 2.70 |
| 88 | Oculoskeletodental syndrome | Enrichment | PIK3C2A | 2.70 |
| 89 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.70 |
| 90 | Lymphangioma | Enrichment | BRAF | 2.70 |
| 91 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.70 |
| 92 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.70 |
| 93 | Phace association | Enrichment | BRAF | 2.70 |
| 94 | Melorheostosis | Enrichment | MAP2K1 | 2.70 |
| 95 | Leopard syndrome 2 | Enrichment | RAF1 | 2.70 |
| 96 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.70 |
| 97 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.70 |
| 98 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.70 |
| 99 | Cowden syndrome 6 | Enrichment | AKT1 | 2.70 |
| 100 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.70 |
| 101 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.70 |
| 102 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.70 |
| 103 | Acute myeloid leukemia with minimal differentiation | Enrichment | FLT3 | 2.70 |
| 104 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.70 |
| 105 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.70 |
| 106 | Hartsfield syndrome | Enrichment | FGFR1 | 2.70 |
| 107 | Congenital heart defects, multiple types, 7 | Enrichment | FLT4 | 2.70 |
| 108 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.70 |
| 109 | Chronic mast cell leukemia | Enrichment | KIT | 2.70 |
| 110 | Trigonitis | Enrichment | RAF1 | 2.70 |
| 111 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.70 |
| 112 | Tufted angioma of skin | Enrichment | KDR | 2.70 |
| 113 | Hypospadias | Enrichment | PIK3CA | 2.70 |
| 114 | Isolated bone marrow mastocytosis | Enrichment | KIT | 2.70 |
| 115 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.70 |
| 116 | Thyroid cancer | Enrichment | RET | 2.70 |
| 117 | Smoldering systemic mastocytosis | Enrichment | KIT | 2.70 |
| 118 | Rare venous malformation | Enrichment | PIK3CA | 2.70 |
| 119 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.70 |
| 120 | Mastocytosis | Enrichment | KIT | 2.70 |
| 121 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.70 |
| 122 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.70 |
| 123 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.70 |
| 124 | Ganglioglioma | Enrichment | BRAF | 2.70 |
| 125 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.70 |
| 126 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.70 |
| 127 | Cutaneous mastocytoma | Enrichment | KIT | 2.70 |
| 128 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.70 |
| 129 | Phace syndrome | Enrichment | BRAF | 2.70 |
| 130 | Oculocerebrodental syndrome | Enrichment | PIK3C2A | 2.70 |
| 131 | Typical urticaria pigmentosa | Enrichment | KIT | 2.70 |
| 132 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.70 |
| 133 | Classic hairy cell leukemia | Enrichment | BRAF | 2.70 |
| 134 | Nodular urticaria pigmentosa | Enrichment | KIT | 2.70 |
| 135 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.70 |
| 136 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.70 |
| 137 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.70 |
| 138 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 2.70 |
| 139 | Acute mast cell leukemia | Enrichment | KIT | 2.70 |
| 140 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.70 |
| 141 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 2.70 |
| 142 | Macrodactyly of toe | Enrichment | PIK3CA | 2.70 |
| 143 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.70 |
| 144 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.70 |
| 145 | Gastrointestinal system disease | Enrichment | RET | 2.70 |
| 146 | Multiple endocrine neoplasia | Enrichment | RET | 2.70 |
| 147 | Testis seminoma | Enrichment | KIT | 2.70 |
| 148 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.42 |
| 149 | Pallister-killian syndrome | Enrichment | ARAF | 2.42 |
| 150 | Caspase 8 deficiency | Enrichment | CASP8 | 2.42 |
| 151 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.42 |
| 152 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.42 |
| 153 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.42 |
| 154 | Autoimmune lymphoproliferative syndrome, type iia | Enrichment | CASP10 | 2.42 |
| 155 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.42 |
| 156 | Capillary hemangioma | Enrichment | AKT3 | 2.42 |
| 157 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.42 |
| 158 | Lymphatic malformation 1 | Enrichment | FLT4 | 2.40 |
| 159 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.40 |
| 160 | Costello syndrome | Enrichment | HRAS | 2.40 |
| 161 | Intracranial hypertension, idiopathic | Enrichment | FLT4 | 2.40 |
| 162 | Pulmonic stenosis | Enrichment | BRAF | 2.40 |
| 163 | Piebald trait | Enrichment | KIT | 2.40 |
| 164 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.40 |
| 165 | Pfeiffer syndrome | Enrichment | FGFR1 | 2.40 |
| 166 | Jackson-weiss syndrome | Enrichment | FGFR1 | 2.40 |
| 167 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.40 |
| 168 | Angioma, tufted | Enrichment | KDR | 2.40 |
| 169 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.40 |
| 170 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.40 |
| 171 | Medullary thyroid carcinoma | Enrichment | RET | 2.40 |
| 172 | Immune system disease | Enrichment | PIK3CD | 2.40 |
| 173 | Hereditary lymphedema i | Enrichment | FLT4 | 2.40 |
| 174 | Acute myeloid leukemia without maturation | Enrichment | FLT3 | 2.40 |
| 175 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 2.40 |
| 176 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 2.40 |
| 177 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 2.40 |
| 178 | Tafro syndrome | Enrichment | MAP2K2 | 2.40 |
| 179 | Wooly hair nevus | Enrichment | HRAS | 2.40 |
| 180 | Hypertelorism | Enrichment | PIK3CA, RET | 2.32 |
| 181 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 2.22 |
| 182 | Thyroid carcinoma, familial medullary | Enrichment | RET | 2.22 |
| 183 | Ataxia-telangiectasia | Enrichment | BRAF | 2.22 |
| 184 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.22 |
| 185 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 2.22 |
| 186 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.22 |
| 187 | Testicular germ cell cancer | Enrichment | KIT | 2.22 |
| 188 | Gingival overgrowth | Enrichment | RET | 2.22 |
| 189 | Spermatocytoma | Enrichment | HRAS | 2.22 |
| 190 | Mixed phenotype acute leukemia with t | Enrichment | FLT3 | 2.22 |
| 191 | Keratoacanthoma | Enrichment | PIK3CA | 2.22 |
| 192 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 2.12 |
| 193 | Spermatogenic failure 17 | Enrichment | PIK3C2G | 2.12 |
| 194 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.12 |
| 195 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.12 |
| 196 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.10 |
| 197 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 2.10 |
| 198 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 2.10 |
| 199 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.10 |
| 200 | Central hypoventilation syndrome, congenital, 1 | Enrichment | RET | 2.10 |
| 201 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.10 |
| 202 | Chronic myelomonocytic leukemia | Enrichment | FLT3 | 2.10 |
| 203 | Cerebrovascular disease | Enrichment | PIK3CA | 2.10 |
| 204 | Craniopharyngioma | Enrichment | BRAF | 2.10 |
| 205 | Pilocytic astrocytoma | Enrichment | KRAS | 2.10 |
| 206 | Newborn respiratory distress syndrome | Enrichment | BRAF | 2.10 |
| 207 | Epidermolytic nevus | Enrichment | HRAS | 2.10 |
| 208 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.10 |
| 209 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 2.10 |
| 210 | Haddad syndrome | Enrichment | RET | 2.10 |
| 211 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.00 |
| 212 | Multiple endocrine neoplasia, type iia | Enrichment | RET | 2.00 |
| 213 | Holoprosencephaly | Enrichment | FGFR1 | 2.00 |
| 214 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 1.96 |
| 215 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 1.94 |
| 216 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.92 |
| 217 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.92 |
| 218 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.92 |
| 219 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.92 |
| 220 | Testicular germ cell tumor | Enrichment | KIT | 1.92 |
| 221 | Wilms tumor 5 | Enrichment | BRAF | 1.92 |
| 222 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | RET | 1.92 |
| 223 | Gastrointestinal stromal tumor | Enrichment | KIT | 1.86 |
| 224 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.86 |
| 225 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 1.86 |
| 226 | Autoimmune lymphoproliferative syndrome | Enrichment | CASP10 | 1.82 |
| 227 | Hereditary ataxia | Enrichment | PRKCG | 1.82 |
| 228 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFRB | 1.80 |
| 229 | Renal hypodysplasia/aplasia 1 | Enrichment | RET | 1.80 |
| 230 | Hypothyroidism | Enrichment | RET | 1.80 |
| 231 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.75 |
| 232 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | FLT3 | 1.75 |
| 233 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.75 |
| 234 | Congenital central hypoventilation syndrome | Enrichment | RET | 1.75 |
| 235 | Primary hyperaldosteronism | Enrichment | BRAF | 1.75 |
| 236 | Ventricular septal defect | Enrichment | BRAF | 1.75 |
| 237 | Renal agenesis, bilateral | Enrichment | RET | 1.75 |
| 238 | Alzheimer disease 2 | Enrichment | NOS3 | 1.72 |
| 239 | Melanoma | Enrichment | BRAF | 1.70 |
| 240 | Primary ovarian insufficiency | Enrichment | KDR, NOS3 | 1.67 |
| 241 | Leukemia, acute lymphoblastic | Enrichment | FLT3 | 1.66 |
| 242 | Specific learning disability | Enrichment | MAPK1 | 1.66 |
| 243 | Septooptic dysplasia | Enrichment | FGFR1 | 1.63 |
| 244 | Renal hypodysplasia/aplasia 3 | Enrichment | RET | 1.63 |
| 245 | Protein-deficiency anemia | Enrichment | NRAS | 1.59 |
| 246 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.59 |
| 247 | Megacolon | Enrichment | AKT3 | 1.58 |
| 248 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.56 |
| 249 | Pheochromocytoma | Enrichment | RET | 1.56 |
| 250 | Inherited cancer-predisposing syndrome | Enrichment | KIT, RET | 1.55 |
| 251 | Wilms tumor 1 | Enrichment | BRAF | 1.53 |
| 252 | Hydrocephalus | Enrichment | PDGFRB | 1.53 |
| 253 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.52 |
| 254 | Rhabdomyosarcoma | Enrichment | HRAS | 1.50 |
| 255 | Gliosarcoma | Enrichment | FGFR1 | 1.50 |
| 256 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.50 |
| 257 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.50 |
| 258 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.48 |
| 259 | Giant cell glioblastoma | Enrichment | FGFR1 | 1.48 |
| 260 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.47 |
| 261 | Heart, malformation of | Enrichment | MAPK1 | 1.45 |
| 262 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 1.45 |
| 263 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.45 |
| 264 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 1.43 |
| 265 | Polymicrogyria | Enrichment | AKT3 | 1.42 |
| 266 | Endometrial cancer | Enrichment | PIK3CA | 1.39 |
| 267 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | RET | 1.39 |
| 268 | Tooth agenesis | Enrichment | FGFR1 | 1.37 |
| 269 | Kallmann syndrome | Enrichment | FGFR1 | 1.35 |
| 270 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | FLT3 | 1.35 |
| 271 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.33 |
| 272 | Pancreatic cancer | Enrichment | KRAS | 1.31 |
| 273 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.31 |
| 274 | Hirschsprung disease 1 | Enrichment | RET | 1.25 |
| 275 | Prostate cancer | Enrichment | PIK3CA | 1.25 |
| 276 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 1.20 |
| 277 | Hypertension, essential | Enrichment | NOS3 | 1.20 |
| 278 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.20 |
| 279 | Left ventricular noncompaction | Enrichment | RAF1 | 1.17 |
| 280 | Cerebral palsy | Enrichment | PDGFRB | 1.13 |
| 281 | Sensorineural hearing loss | Enrichment | RET | 1.04 |
| 282 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 1.00 |
| 283 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.98 |
| 284 | Severe covid-19 | Enrichment | CASP10 | 0.98 |
| 285 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.83 |
| 286 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.71 |
| 287 | Microcephaly | Enrichment | MAPK1 | 0.66 |